FHC0001 commonName g. 5256G>A FHC0001 protEffect E258K FHC0001 funChange phosphorylation site disrupted or titin and myosin binding sites may be lost FHC0002 commonName g. 5254A>C FHC0002 protEffect H257P FHC0002 funChange net charge substitution +1 to 0 FHC0003 commonName g. 5824 g>t FHC0003 funChange phosphorylation site truncated; loss of titin and myosin binding sites FHC0004 commonName g. 5166G>A FHC0004 protEffect D228N FHC0004 funChange net charge substitution -1 to 0; muscle contractile regulation region possibly related to the myosin regulatory light chain FHC0005 commonName g. 5824g>a FHC0005 funChange phosphorylation site truncated; loss of titin and myosin binding sites FHC0006 commonName g. 5828g>a FHC0006 funChange loss of phosphorylation site, titin and myosin binding sites FHC0007 commonName g. 6011G>A FHC0007 protEffect G278E FHC0007 funChange net charge substitution 0 to -1 FHC0008 commonName g. 6014G>C FHC0008 protEffect G279A FHC0008 funChange neutral charge substitution FHC0010 commonName g. 7308a>g FHC0010 funChange phosphorylation site truncated; loss of titin and myosin binding sites FHC0012 commonName g. 7360G>A FHC0012 protEffect R326Q FHC0012 funChange net charge substitution +1 to 0 FHC0015 commonName g. 7438T>C FHC0015 protEffect L352P FHC0015 funChange neutral charge substitution FHC0016 commonName g. 10385a>g FHC0016 funChange loss of function FHC0017 commonName g. 10512-10513del FHC0017 funChange loss of function FHC0018 commonName g. 10587delT FHC0018 funChange loss of function FHC0019 commonName g. 10618delC FHC0019 funChange loss of function FHC0020 commonName g. 10628G>C FHC0020 protEffect E451Q FHC0020 funChange loss of titin and myosin binding sites FHC0022 commonName g. 10732 C>T FHC0022 protEffect T457M FHC0022 funChange neutral charge substitution FHC0025 commonName g. 10931G>A FHC0025 protEffect R495Q FHC0025 funChange protein phosphorylation may be affected FHC0026 commonName g. 10951C>T FHC0026 protEffect R502W FHC0026 funChange net charge substitution +1 to 0 FHC0027 commonName g. 10952G>A FHC0027 protEffect R502Q FHC0027 funChange protein phosphorylation may be affected FHC0028 commonName g. 10957-10959del FHC0028 protEffect K504del FHC0028 funChange unknown FHC0029 commonName g. 11071G>C FHC0029 protEffect E542Q FHC0029 funChange loss of titin and myosin binding sites FHC0030 commonName g. 11047-11048del FHC0030 funChange loss of function FHC0032 commonName g. 11073t>c FHC0032 funChange loss of function FHC0035 commonName g. 11645delT FHC0035 protEffect delta593S FHC0035 funChange loss of titin and myosin binding sites FHC0038 commonName g. 12413delA FHC0038 funChange loss of function FHC0040 commonName g. 13858a>g FHC0040 funChange loss of titin and myosin binding sites FHC0045 commonName g. 13893G>A FHC0045 protEffect R654H FHC0045 funChange may disrupt the binding of Ca2+/calmodulin kinase to myosin binding protein C FHC0048 commonName g. 13980G>A FHC0048 protEffect W683X FHC0048 funChange loss of function FHC0050 commonName g. 14271delC FHC0050 protEffect delta698C FHC0050 funChange loss of titin and myosin binding sites FHC0053 commonName g. 15042-15063dupl FHC0053 funChange loss of function FHC0055 commonName g. 15087C>A FHC0055 protEffect N755K FHC0055 funChange conformation of C5 domain disrupted FHC0060 commonName g. 15829a>g FHC0060 funChange loss of titin and myosin binding sites (870aa) or C6 domain truncated (1239aa) FHC0061 commonName g. 15131g>t FHC0061 funChange loss of titin and myosin binding sites FHC0062 commonName g. 15131g>a FHC0062 funChange loss of titin and myosin binding sites FHC0063 commonName g. 15088delC FHC0063 protEffect delta756C FHC0063 funChange loss of titin and myosin binding sites FHC0065 commonName g. 15919insG FHC0065 funChange loss of titin and myosin binding sites FHC0066 commonName g. 16085 G>A FHC0066 protEffect R810H FHC0066 funChange neutral charge substitution; located in the fibronectin type-3 domain (C6) FHC0067 commonName g. 16088A>G FHC0067 protEffect K811R FHC0067 funChange neutral charge substitution FHC0068 commonName g. 16154C>T FHC0068 protEffect A833V FHC0068 funChange neutral charge substitution FHC0069 commonName g. 16189-16193del FHC0069 funChange loss of function FHC0070 commonName g. 16190-16194del FHC0070 funChange loss of titin and myosin binding sites FHC0071 commonName g. 16234-16247dupl FHC0071 funChange loss of titin and myosin binding sites FHC0072 commonName g. 16212delC FHC0072 funChange loss of function FHC0073 commonName g. 17721G>A FHC0073 protEffect V896M FHC0073 funChange neutral charge substitution FHC0074 commonName g. 17773-17774delgt FHC0074 funChange loss of function FHC0075 commonName g. 17721G>A FHC0075 protEffect V896M FHC0075 funChange neutral charge substitution FHC0076 commonName g. 18566-18567del FHC0076 funChange loss of titin and myosin binding sites FHC0077 commonName g. 18607C>T FHC0077 protEffect Q969X FHC0077 funChange loss of titin and myosin binding sites FHC0078 commonName g. 18608g>a FHC0078 funChange may result in additional residues and loss of wild-type residues FHC0079 commonName g. 18535-18536del FHC0079 funChange loss of titin and myosin binding sites FHC0080 commonName g. 20025^20026ins FHC0080 funChange loss of titin and myosin binding sites FHC0081 commonName g. 19935 C>T FHC0081 protEffect Q1012X FHC0081 funChange loss of titin and myosin binding sites FHC0082 commonName g. 20082 C>T FHC0082 protEffect Q1061X FHC0082 funChange loss of titin and myosin binding sites FHC0083 commonName g. 20096 g>a FHC0083 funChange loss of titin and myosin binding sites FHC0084 commonName g. 20410G>T FHC0084 protEffect E1096X FHC0084 funChange loss of function FHC0085 commonName g. 20459g>c FHC0085 funChange loss of titin and myosin binding sites FHC0086 commonName g. 20456 t>g FHC0086 funChange loss of titin and myosin binding sites FHC0090 commonName g. 20835g>a FHC0090 funChange loss of titin and myosin binding sites; truncated protein undetected by Western blotting FHC0091 commonName g. 21034G>A FHC0091 protEffect A1194T FHC0091 funChange neutral charge substitution FHC0092 commonName g. 21059delG FHC0092 funChange loss of function FHC0093 commonName g. 21524G>A FHC0093 protEffect A1255T FHC0093 funChange neutral charge substitution FHC0094 commonName g. 21082g>a FHC0094 funChange loss of myosin-binding site FHC0095 commonName g. [21420^21421ins21404-21415; 21420-21423del] FHC0095 funChange partial loss of myosin binding site FHC0096 commonName g. 21458 C>T FHC0096 protEffect Q1233X FHC0096 funChange loss of titin and myosin binding sites FHC0097 commonName g. 21520^21521ins21503-21520 FHC0097 protEffect 1253^1254insGGIYVC FHC0097 funChange conformation of myosin binding site disrupted FHC0098 commonName g. 4421-4423del FHC0098 protEffect Gdel10 FHC0098 funChange unknown FHC0099 commonName g. 4470C>T FHC0099 protEffect A26V FHC0099 funChange neutral charge substitution; located in the globular head domain FHC0101 commonName g. 4568G>A FHC0101 protEffect V59I FHC0101 funChange neutral charge substitution FHC0102 commonName g. 5353C>T FHC0102 protEffect T124I FHC0102 funChange neutral charge substitution; located in the ATP-binding site FHC0103 commonName g. 5410G>A FHC0103 protEffect R143Q FHC0103 funChange net charge substitution +1 to 0; located in the ATP-binding site FHC0104 commonName g. 5467A>G FHC0104 protEffect Y162C FHC0104 funChange neutral charge substitution; located at the end of the ATP-binding site FHC0105 commonName g. 6283G>C FHC0105 protEffect R190T FHC0105 funChange net charge substitution in the F-helix in close proximity to the phosphate binding P-loop; located in the ATP-binding region of the myosin head; FHC0106 commonName g. 6275C>G FHC0106 protEffect N187K FHC0106 funChange net charge substitution 0 to +1; located in the ATP-binding site FHC0107 commonName g. 6277C>A FHC0107 protEffect T188N FHC0107 funChange neutral charge substitution; regulatory light chain and ATP binding domains FHC0108 commonName g. 6491A>G FHC0108 protEffect N232S FHC0108 funChange neutral charge substitution; located in the ATP-binding site; ATPase activity affected FHC0109 commonName g. 6460C>A FHC0109 protEffect Q222K FHC0109 funChange net charge substitution 0 to +1; located in the distal end of the ATP-binding site FHC0111 commonName g. 6643G>A FHC0111 protEffect R249Q FHC0111 funChange net charge substitution +1 to 0; may alter globular head conformation FHC0112 commonName g. 6664G>A FHC0112 protEffect G256E FHC0112 funChange net charge substitution -1 to 0; located in outer end of the ATP-binding site; contractile properties indistinguishable from normal myofibres FHC0113 commonName g. 6633A>C FHC0113 protEffect K246Q FHC0113 funChange net charge substitution +1 to 0 FHC0114 commonName g. 6685T>C FHC0114 protEffect I263T FHC0114 funChange unknown; located in the ATP-binding site FHC0115 commonName g. 7543G>C FHC0115 protEffect A326P FHC0115 funChange neutral charge substitution FHC0116 commonName g. [8808C>G;8810G>T] FHC0116 protEffect L390V FHC0116 funChange neutral charge substitution FHC0117 commonName g. 8848G>A FHC0117 protEffect R403Q FHC0117 funChange net charge substitution +1 to 0; located in the actin-binding site; may affect actin-myosin interaction;[mouse model] hyperdynamic contraction, increased end-systolic chamber stiffness FHC0118 commonName g. 8847C>T FHC0118 protEffect R403W FHC0118 funChange net charge substitution +1 to 0; located in the actin-binding site; may alter globular head conformation; may reduce contractile output by affecting actin-myosin interaction FHC0119 commonName g. 8848G>T FHC0119 protEffect R403L FHC0119 funChange net charge substitution +1 to 0; located in the actin-binding site; may alter globular head conformation; may reduce contractile output by affecting actin-myosin interaction FHC0120 commonName g. 8789G>T FHC0120 protEffect K383N FHC0120 funChange net charge substitution +1 to 0 FHC0121 commonName g. 9123C>T FHC0121 protEffect R453C FHC0121 funChange net charge substitution +1 to 0; located in outer end of the ATP-binding site FHC0123 commonName g. 9585T>G FHC0123 protEffect F513C FHC0123 funChange neutral charge substitution; located in the head-rod junction FHC0124 commonName g. 10391G>C FHC0124 protEffect G584R FHC0124 funChange net charge substitution 0 to +1; located in the head-rod junction; may alter; may affect the contractile property of the protein FHC0125 commonName g. 10401A>T FHC0125 protEffect D587V FHC0125 funChange net charge substitution -1 to 0 FHC0126 commonName g. 10446A>G FHC0126 protEffect N602S FHC0126 funChange neutral charge substitution FHC0127 commonName g. 10442C>G FHC0127 protEffect L601V FHC0127 funChange neutral charge substitution FHC0130 commonName V606L FHC0130 protEffect p.V606L FHC0130 funChange rod region FHC0131 commonName g. 9542G>A FHC0131 protEffect E499K FHC0131 funChange net charge substitution 0 to +1 FHC0132 commonName g. 10457G>A FHC0132 protEffect V606M FHC0132 funChange neutral charge subsititution; located in the actin-binding site FHC0134 commonName g. 10486G>C FHC0134 protEffect K615N FHC0134 funChange net charge substitution +1 to 0; located in the actin-binding domain FHC0135 commonName g. 11271G>A FHC0135 protEffect M659I FHC0135 funChange neutral charge substitution FHC0136 commonName g. 11281C>T FHC0136 protEffect R663C FHC0136 funChange net charge substitution +1 to 0; located in the actin-binding site FHC0137 commonName g. 11282G>A FHC0137 protEffect R663H FHC0137 funChange neutral charge substitution; located in the actin-binding site FHC0138 commonName g. 11281C>A FHC0138 protEffect R663S FHC0138 funChange net charge substitution +1 to 0 FHC0139 commonName g. 11306G>T FHC0139 protEffect R671C FHC0139 funChange net charge substitution +1 to 0 FHC0140 commonName g. 12072C>T FHC0140 protEffect R694C FHC0140 funChange reactive cysteines FHC0141 commonName g. 12079A>G FHC0141 protEffect N696S FHC0141 funChange neutral charge substitution; located within the region containing actin- and ATP-binding sites FHC0143 commonName g. 12127G>T FHC0143 protEffect R712L FHC0143 funChange unknown FHC0144 commonName g. 12138G>A FHC0144 protEffect G716R FHC0144 funChange net charge subsitution 0 to +1; located in the light chain-binding site FHC0146 commonName g. 12147C>T FHC0146 protEffect R719W FHC0146 funChange net charge substitution +1 to 0; located in the light chain-binding site FHC0147 commonName g. 12148G>A FHC0147 protEffect R719Q FHC0147 funChange net charge substitution +1 to 0; located in the light chain-binding site FHC0150 commonName g. 12307C>T FHC0150 protEffect R723C FHC0150 funChange net charge substitution +1 to 0; located in the light chain-binding site FHC0151 commonName g. 12307C>G FHC0151 protEffect R723G FHC0151 funChange net charge substitution +1 to 0; located in the light chain-binding site FHC0153 commonName g. 12332C>T FHC0153 protEffect P731L FHC0153 funChange neutral charge substitution; located in the light chain-binding site FHC0154 commonName g. 12338G>A FHC0154 protEffect G733E FHC0154 funChange net charge substitution 0 to -1 FHC0155 commonName g. 12348T>G FHC0155 protEffect I736M FHC0155 funChange neutral charge substitution; located in the light chain-binding site FHC0156 commonName g. 12340 C>G FHC0156 protEffect Q734E FHC0156 funChange net charge substitution 0 to -1; located close to MYL3 interface; may affect mechano-chemical coupling during contraction FHC0157 commonName g. 12361G>C FHC0157 protEffect G741R FHC0157 funChange net charge substitution 0 to +1; located in the light chain-binding site FHC0158 commonName g. 12361G>T FHC0158 protEffect G741W FHC0158 funChange neutral charge substitution; located in the light chain-binding site FHC0159 commonName g. 12361G>A FHC0159 protEffect G741R FHC0159 funChange net charge substitution 0 to +1; located in the light chain-binding site FHC0160 commonName g. 12362G>C FHC0160 protEffect G741A FHC0160 funChange neutral charge substitution; located in the light chain-binding site FHC0161 commonName g. 12707G>A FHC0161 protEffect G768R FHC0161 funChange net charge substitution 0 to +1 FHC0163 commonName g. 19227G>A FHC0163 protEffect A1379T FHC0163 funChange altering interaction of the light meromyosin with other sarcomeric proteins FHC0164 commonName g. 22240A>G FHC0164 protEffect S1775G FHC0164 funChange disrupting the coiled-coil structure of the light meromyosin FHC0165 commonName g. 13198G>A FHC0165 protEffect E846K FHC0165 funChange net charge substitution -1 to +1 FHC0167 commonName g. 12738A>G FHC0167 protEffect D778G FHC0167 funChange net charge substitution -1 to 0; located in the light chain-binding site; may affect actin-binding FHC0168 commonName g. 12739C>G FHC0168 protEffect D778E FHC0168 funChange neutral charge substitution; light chain binding region FHC0169 commonName g. 12750G>A FHC0169 protEffect S782N FHC0169 funChange neutral charge substitution; located in the light chain-binding site; may affect actin-binding FHC0170 commonName g. 12765G>A FHC0170 protEffect R787H FHC0170 funChange neutral charge substitution FHC0171 commonName g. 12794G>A FHC0171 protEffect A797T FHC0171 funChange neutral charge substitution; located in the light chain-binding domain FHC0173 commonName g. 13198G>C FHC0173 protEffect E846Q FHC0173 funChange rod region FHC0174 commonName g. 13267C>T FHC0174 protEffect R869C FHC0174 funChange net charge substitution +1 to 0; located in the rod FHC0175 commonName g. 13271G>A FHC0175 protEffect R870H FHC0175 funChange neutral charge substitution; located in the rod FHC0176 commonName g. 13270C>T FHC0176 protEffect R870C FHC0176 funChange net charge substitution +1 to 0; located in the rod FHC0177 commonName g. 13217T>C FHC0177 protEffect M852T FHC0177 funChange neutral charge substitution FHC0178 commonName g. 13267C>G FHC0178 protEffect R869G FHC0178 funChange net charge substitution +1 to 0 FHC0179 commonName g. 13292T>A FHC0179 protEffect M877K FHC0179 funChange net charge substitution 0 to +1; located in the rod FHC0180 commonName g. 13309-13311del FHC0180 protEffect Edel883 FHC0180 funChange S2 domain FHC0181 commonName g. 13968 A>G FHC0181 protEffect E894G FHC0181 funChange net charge substitution -1 to 0 FHC0182 commonName g. 14009C>G FHC0182 protEffect L908V FHC0182 funChange neutral charge substitution; located in the rod; may affect actin-binding FHC0183 commonName g. 14057G>A FHC0183 protEffect E924K FHC0183 funChange net charge substitution -1 to +1; located in the rod; may alter the conformation of the head-rod junction; may disrupt the assembly of thick filaments FHC0184 commonName g. 14066 G>A FHC0184 protEffect E927K FHC0184 funChange net charge substitution -1 to +1 FHC0185 commonName g. 14075-14077del FHC0185 protEffect Edel930 FHC0185 funChange unknown; located in the rod FHC0186 commonName g. 14075G>A FHC0186 protEffect E930K FHC0186 funChange net charge substitution -1 to +1; located in the rod; may alter the conformation of the head-rod junction; may disrupt the assembly of thick filaments FHC0188 commonName g. 14090G>A FHC0188 protEffect E935K FHC0188 funChange net charge substitution -1 to +1; located in the head-rod junction; may alter the conformation of the head-rod junction; may disrupt the assembly of thick filaments FHC0190 commonName g. 14132G>A FHC0190 protEffect E949K FHC0190 funChange net charge substitution -1 to +1; located in the rod; may alter the conformation of the head-rod junction; may disrupt the assembly of thick filaments FHC0191 commonName g. 14169T>G FHC0191 protEffect L961R FHC0191 funChange net charge substitution 0 to +1; located in the rod FHC0192 commonName g. 23793-26171del FHC0192 funChange unknown FHC0194 commonName g. 8856G>A FHC0194 protEffect V406M FHC0194 funChange neutral charge substitution; located in the actin-binding site FHC0196 commonName g. 9124G>A FHC0196 protEffect R453H FHC0196 funChange neutral charge substitution; located in outer end of the ATP-binding site FHC0197 commonName g. 9124G>T FHC0197 protEffect R453L FHC0197 funChange net charge substitution +1 to 0; located in outer end of the ATP-binding site FHC0198 commonName g. 9049C>T FHC0198 protEffect A428V FHC0198 funChange neutral charge substitution; actin binding domain FHC0199 commonName g. 9094T>C FHC0199 protEffect I443T FHC0199 funChange neutral charge substitution; actin binding domain FHC0201 commonName c. 67G>A FHC0201 protEffect A13T FHC0201 funChange may disrupt the phosphorylation site FHC0202 commonName c. 82T>C FHC0202 protEffect F18L FHC0202 funChange may disrupt the phosphorylation site FHC0203 commonName c. 94G>A FHC0203 protEffect E22K FHC0203 funChange may disrupt the phosphorylation site FHC0206 commonName c. 171C>A FHC0206 protEffect N47K FHC0211 commonName c. 203G>A FHC0211 protEffect R58Q FHC0211 funChange Mg2+ binding site disrupted FHC0214 commonName c. 314C>G FHC0214 protEffect P95R FHC0214 funChange may disrupt the phosphorylation site FHC0230 commonName c. 527A>T FHC0230 protEffect D166V FHC0230 funChange net charge substitution -1 to 0 FHC0320 commonName c. 217A>G FHC0320 protEffect E56G FHC0320 funChange net charge substitution -1 to 0 FHC0330 commonName c. 495A>G FHC0330 protEffect M149V FHC0330 funChange increased actin translocation FHC0335 commonName c. 511G>A FHC0335 protEffect R154H FHC0335 funChange increased actin translocation FHC0392 commonName g. 4745 G>A FHC0392 protEffect R162Q FHC0392 funChange net charge subsitution +1 to 0; located in the troponin C binding site FHC0393 commonName g. 4757 C>T FHC0393 protEffect S166F FHC0393 funChange neutral charge substitution; located in the troponin C binding site FHC0394 commonName g. 4792 A>G FHC0394 protEffect K178E FHC0394 funChange net charge substitution +1 to -1 FHC0395 commonName g. 4807 A>G FHC0395 protEffect K183E FHC0395 funChange net charge substitution +1 to -1 FHC0400 commonName g. 2530G>T FHC0400 protEffect K58N FHC0400 funChange no change FHC0402 commonName g. 2600 C>T FHC0402 protEffect P82S FHC0402 funChange neutral charge substitution FHC0404 commonName g. 4683G>A FHC0404 protEffect R141Q FHC0404 funChange net charge substitution +1 to 0; first binding site to cardiac troponin C FHC0405 commonName g. 4693 C>T FHC0405 protEffect R145W FHC0405 funChange net charge substitution +1 to 0 FHC0406 commonName g. 4730C>T FHC0406 protEffect A157V FHC0406 funChange neutral charge substitution; First binding site to cardiac troponin C FHC0407 commonName g. 4693C>G FHC0407 protEffect R145G FHC0407 funChange unknown FHC0408 commonName g. 4694G>A FHC0408 protEffect R145Q FHC0408 funChange unknown FHC0409 commonName g. 4744C>T FHC0409 protEffect R162W FHC0409 funChange unknown FHC0410 commonName g. 4807-4809del FHC0410 protEffect Kdel183 FHC0410 funChange unknown FHC0411 commonName g. 4745G>C FHC0411 protEffect R162P FHC0411 funChange net charge substitution +1 to 0; first binding site to cardiac troponin C FHC0412 commonName g. 4789-4791del FHC0412 protEffect K177del FHC0412 funChange located in the first binding site to cardiac troponin C FHC0413 commonName g. 6449G>A FHC0413 protEffect R186Q FHC0413 funChange net charge substitution +1 to 0; first binding site to cardiac troponin C FHC0414 commonName g. 6461 A>G FHC0414 protEffect D190G FHC0414 funChange net charge substitution -1 to 0 FHC0415 commonName g. 6467 G>A FHC0415 protEffect R192H FHC0415 funChange neutral charge substitution FHC0416 commonName g. 6498G>A FHC0416 protEffect D196N FHC0416 funChange net charge substitution -1 to 0; first binding site to cardiac troponin C FHC0418 commonName S199N FHC0418 protEffect p.S199N FHC0421 commonName g. 6499 G>C FHC0421 protEffect G203R FHC0421 funChange net charge subsitution 0 to +1 FHC0422 commonName g. 6499G>A FHC0422 protEffect G203S FHC0422 funChange unknown FHC0423 commonName g. 6508A>C FHC0423 protEffect K206Q FHC0423 funChange unknown FHC0546 commonName g.200T>C FHC0546 protEffect F70L FHC0546 funChange neutral charge substitution FHC0547 commonName g. 239 G>A FHC0547 protEffect E83K FHC0547 funChange net charge substitution -1 to +1 FHC0548 commonName g. 249 A>C FHC0548 protEffect D86A FHC0548 funChange net charge substitution -1 to 0; located in the TPM1-binding region FHC0549 commonName g. 228T>A FHC0549 protEffect I79N FHC0549 funChange net charge subsitution 0 to +1; [rabbit model] increased Ca2+ sensitivity of myofibril ATPase activity, no significant change in maximum ATPase activity, impaired inhibition of TNNT2 by TNNI3 FHC0550 commonName g. 119C>T FHC0550 protEffect R92W FHC0554 commonName g. 125 C>T FHC0554 protEffect R94C FHC0554 funChange net charge substitution +1 to 0 FHC0555 commonName g. 156C>T FHC0555 protEffect A104V FHC0565 commonName g. 161-163del FHC0565 protEffect Edel160 FHC0565 funChange net charge loss -1 FHC0567 commonName g. 170-172del FHC0567 protEffect E163del FHC0571 commonName g. 113 A>G FHC0571 protEffect K247R FHC0571 funChange neutral charge substitution FHC0573 commonName g.192A>T FHC0573 protEffect N271I FHC0573 funChange neutral charge substitution FHC0581 commonName g. 81G>C FHC0581 protEffect R278P FHC0581 funChange not specified; mutation affects conserved residue FHC0609 commonName c. 240 G>C FHC0609 protEffect E62Q FHC0609 funChange net charge subsitution -1 to 0; occurs at the f-position of the TPM1 heptad repeat FHC0610 commonName c. 244C>T FHC0610 protEffect A63V FHC0610 funChange neutral charge substitution FHC0611 commonName c. 265A>C FHC0611 protEffect K70T FHC0611 funChange net charge substitution +1 to 0 FHC0616 commonName c. 340T>C FHC0616 protEffect V95A FHC0616 funChange neutral charge substitution; increased calcium affinity FHC0621 commonName c. 571 T>C FHC0621 protEffect I172T FHC0621 funChange neutral charge substitution FHC0622 commonName c. 579G>A FHC0622 protEffect D175N FHC0622 funChange net charge substitution -1 to 0; may affect the Ca2+ dependent binding to troponin T; in vitro assay showed increased Ca2+ sensitivity FHC0623 commonName c. 595A>G FHC0623 protEffect E180G FHC0623 funChange net charge substitution -1 to 0 FHC0624 commonName c. 595A>T FHC0624 protEffect E180V FHC0624 funChange net charge substitution -1 to 0; Ca2+ dependent troponin T binding domain FHC0625 commonName c. 610T>G FHC0625 protEffect L185R FHC0625 funChange net charge substitution 0 to +1; near troponin T binding domain FHC0670 commonName c. 898 T>C FHC0670 protEffect M281T FHC0670 funChange neutral charge substitution; affect residues at the TPM1 dimer interface FHC0690 commonName g. 281G>A FHC0690 protEffect E101K(=E99K in the reference) FHC0690 funChange net charge substitution -1 to +1; close opposition to the myosin head and forming an electrostatic 'weak' actomyosin binding site FHC0695 commonName g.1146C>G FHC0695 protEffect P166A(=P164A in the reference) FHC0695 funChange neutral charge substitution; adjacent to an interaction region between actin monomers in the double helical actin filament FHC0800 commonName c. 2221G>T FHC0800 protEffect R740L FHC0800 funChange located within the alpha-actinin binding site; [yeast model] increased affinity to alpha-actinin FHC0904 commonName g. 2376-2382del FHC0904 funChange loss of function FHC0905 commonName g. 2377C>T FHC0905 protEffect Q76X FHC0905 funChange loss of function FHC0955 commonName g. 16115 G>A FHC0955 protEffect R820Q FHC0955 funChange net charge substitution +1 to 0 FHC0960 commonName g. 17653 C>A FHC0960 protEffect P873H FHC0960 funChange net charge subsitution 0 to +1; located in the fibronectin type-3 domain (C7) required for integration of MYBPC3 into the thick filament FHC0970 commonName g. 18509 C>T FHC0970 protEffect T936M FHC0970 funChange neutral charge substitution FHC1010 commonName g.4508G>A FHC1010 protEffect V39M FHC1010 funChange neutral charge substitution; regulatory light chain and ATP binding domains FHC1019 commonName g. 6300 G>A FHC1019 protEffect A196T FHC1019 funChange neutral charge substitution; located in the ATP-binding site FHC1020 commonName g. 6325G>A FHC1020 protEffect R204H FHC1020 funChange neutral charge substitution; regulatory light chain and ATP binding domains FHC1021 commonName g. 6346 C>T FHC1021 protEffect P211L FHC1021 funChange neutral charge substitution; located in the ATP-binding site FHC1024 commonName g. 6475 C>G FHC1024 protEffect L227V FHC1024 funChange neutral charge substitution FHC1025 commonName g. 7525 G>A FHC1025 protEffect V320M FHC1025 funChange neutral charge substitution FHC1026 commonName g. 7550 A>G FHC1026 protEffect E328G FHC1026 funChange net charge substitution -1 to 0 FHC1028 commonName g. 8266 A>G FHC1028 protEffect K351E FHC1028 funChange net charge substitution +1 to -1 FHC1030 commonName g. 8278G>A FHC1030 protEffect A355T FHC1030 funChange neutral charge substitution FHC1032 commonName g. 8850 G>T FHC1032 protEffect V404L FHC1032 funChange neutral charge substitution; located in the actin-binding site FHC1034 commonName g. 8871 G>A FHC1034 protEffect V411I FHC1034 funChange neutral charge substitution; located in the ATP-binding site FHC1036 commonName g. 9070 T>C FHC1036 protEffect M435T FHC1036 funChange neutral charge substitution FHC1040 commonName g. 9483A>G FHC1040 protEffect N479S FHC1040 funChange neutral charge substitution; reactive thiols FHC1042 commonName g. 9494G>A FHC1042 protEffect E483K FHC1042 funChange net charge substitution -1 to +1 FHC1044 commonName g. 9596 C>A FHC1044 protEffect L517M FHC1044 funChange neutral charge substitution; located close to reactive cysteine residues; may affect ATPase activity FHC1050 commonName g. 13126 A>G FHC1050 protEffect M822V FHC1050 funChange neutral charge substitution FHC1055 commonName g. 12726 A>T FHC1055 protEffect E774V FHC1055 funChange net charge subsitution -1 to 0; may affect interaction with actin FHC1056 commonName g. 12740 G>T FHC1056 protEffect E779X FHC1056 funChange loss of function FHC1060 commonName g. 17905T>G FHC1060 protEffect L1135R FHC1060 funChange net charge substitution 0 to +1; rod domain FHC1062 commonName g. 18153G>C FHC1062 protEffect E1218Q FHC1062 funChange net charge substitution -1 to 0; rod domain FHC1070 commonName g. 19222C>T FHC1070 protEffect T1377M FHC1070 funChange net charge substitution -1 to 0; rod domain FHC1072 commonName g. 19227G>A FHC1072 protEffect A1379T FHC1072 funChange neutral charge substitution; rod domain FHC1073 commonName g. 19236C>T FHC1073 protEffect R1382W FHC1073 funChange net charge substitution +1 to 0; rod domain FHC1080 commonName g. 21752G>A FHC1080 protEffect V1690M FHC1080 funChange neutral charge substitution; rod domain FHC1090 commonName g. 22243G>A FHC1090 protEffect A1776T FHC1090 funChange neutral charge substitution; rod domain CFMDB_1185 commonName - 816delCTC CFMDB_0 commonName - 816C- >T CFMDB_1053 commonName - 363C/T CFMDB_1517 commonName 40G/C CFMDB_1109 commonName 48C/G CFMDB_1107 commonName 99C/T CFMDB_902 commonName 125G/C CFMDB_955 commonName 129G/C CFMDB_1365 commonName 124del23bp CFMDB_3 commonName - 33G- >A CFMDB_815 commonName - 94G- >T CFMDB_901 commonName - 329A/G CFMDB_1410 commonName - 461A- >G CFMDB_5 protEffect p.Met1Val CFMDB_5 commonName M1V CFMDB_1694 protEffect p.Met1Leu CFMDB_1694 commonName M1L CFMDB_1551 commonName 107 G/A CFMDB_2 commonName - 471delAGG CFMDB_712 commonName - 102T- >A CFMDB_1675 commonName - 589G/A CFMDB_833 commonName - 790T9/8 CFMDB_1 commonName - 741T- >G CFMDB_720 commonName - 834T/G CFMDB_6 protEffect p.Met1Lys CFMDB_6 commonName M1K CFMDB_1186 protEffect p.Met1Thr CFMDB_1186 commonName M1T CFMDB_1910 protEffect p.Met1Arg CFMDB_1328 commonName 135del120ins300 CFMDB_7 protEffect p.Met1Ile CFMDB_7 commonName M1I(ATA) CFMDB_8 protEffect p.Met1Ile CFMDB_8 commonName M1I(ATT) CFMDB_9 protEffect p.Gln2X CFMDB_9 commonName Q2X (together with R3W) CFMDB_10 protEffect p.Ser4X CFMDB_10 commonName S4X CFMDB_11 protEffect p.Pro5Leu CFMDB_11 commonName P5L CFMDB_1280 protEffect p.Glu7X CFMDB_1280 commonName E7X CFMDB_876 commonName 156G/A CFMDB_872 protEffect p.Ser10Arg CFMDB_872 commonName S10R CFMDB_733 protEffect p.Val11Ile CFMDB_733 commonName 163G/A CFMDB_1800 protEffect p.Ser13IlefsX14 CFMDB_640 protEffect p.Ser13Phe CFMDB_640 commonName S13F CFMDB_12 protEffect p.Lys14X CFMDB_12 commonName K14X CFMDB_630 protEffect p.Lys14AsnfsX11 CFMDB_630 commonName 174delA CFMDB_13 protEffect p.Leu15PhefsX10 CFMDB_13 commonName 175delC CFMDB_14 protEffect p.Ser18GlnfsX27 CFMDB_14 commonName 175insT CFMDB_1442 protEffect p.Leu15Pro CFMDB_1442 commonName L15P CFMDB_1705 protEffect p.Trp19AlafsX7 CFMDB_15 protEffect p.Phe17SerfsX8 CFMDB_15 commonName 182delT CFMDB_1512 protEffect p.Ser18Gly CFMDB_1512 commonName S18G CFMDB_893 commonName 185+ 1G- >T CFMDB_16 commonName 185+ 4A- >T CFMDB_1032 commonName 185+ 45A- >G CFMDB_1636 commonName CFTR- dele2 CFMDB_17 commonName 186- 13C- >G CFMDB_18 protEffect p.Trp19Cys CFMDB_18 commonName W19C CFMDB_702 protEffect p.Trp19X CFMDB_702 commonName W19X CFMDB_1402 protEffect p.Leu24Phe CFMDB_1402 commonName L24F CFMDB_1894 protEffect p.Lys26Glu CFMDB_1463 protEffect p.Gly27Arg CFMDB_1463 commonName G27R(211G to C) CFMDB_1419 protEffect p.Gly27Arg CFMDB_1419 commonName G27R CFMDB_20 protEffect p.Gly27X CFMDB_20 commonName G27X CFMDB_19 protEffect p.Gly27AspfsX64 CFMDB_19 commonName 211delG CFMDB_21 protEffect p.Gly27Glu CFMDB_21 commonName G27E CFMDB_22 protEffect p.Gln30X CFMDB_22 commonName Q30X CFMDB_1001 protEffect p.Arg31Cys CFMDB_1001 commonName 223C/T CFMDB_860 protEffect p.Arg31Cys CFMDB_860 commonName R31C CFMDB_23 protEffect p.Arg31Leu CFMDB_23 commonName R31L CFMDB_1740 protEffect p.Leu32Pro CFMDB_587 protEffect p.Leu34_Gln39del CFMDB_587 commonName 232del18 CFMDB_24 protEffect p.Asp36ArgfsX9 CFMDB_24 commonName 237insA CFMDB_1348 protEffect p.Asp36Asn CFMDB_1348 commonName D36N CFMDB_1778 protEffect p.Ile37Val CFMDB_25 protEffect p.Tyr38ProfsX6 CFMDB_25 commonName 241delAT CFMDB_703 protEffect p.Tyr38ProfsX6 CFMDB_703 commonName 244delTA CFMDB_1875 protEffect p.Tyr38X CFMDB_1875 commonName Y38X CFMDB_26 protEffect p.Gln39X CFMDB_26 commonName Q39X CFMDB_27 protEffect p.Ser42Phe CFMDB_27 commonName S42F CFMDB_1002 protEffect p.Asp44Val CFMDB_1002 commonName 263A/T CFMDB_28 protEffect p.Asp44Gly CFMDB_28 commonName D44G CFMDB_29 protEffect p.Ala46Asp CFMDB_29 commonName A46D CFMDB_1840 protEffect p.Ala46Val CFMDB_1840 commonName A46V CFMDB_699 commonName 279A/G CFMDB_874 protEffect p.Ser50Pro CFMDB_874 commonName S50P CFMDB_31 protEffect p.Ser50Tyr CFMDB_31 commonName S50Y CFMDB_32 protEffect p.Lys52AsnfsX39 CFMDB_32 commonName 284delA CFMDB_690 protEffect p.Arg55AsnfsX39 CFMDB_690 commonName 295ins8 CFMDB_33 commonName 296+ 1G- >C CFMDB_34 commonName 296+ 2T- >C CFMDB_35 commonName 296+ 12T- >C CFMDB_907 commonName 296+ 128G/C CFMDB_1331 commonName 296+ 1G- >A CFMDB_1494 protEffect p.Arg55Lys CFMDB_1494 commonName R55K CFMDB_1368 commonName 296+ 28A- >G CFMDB_1336 commonName 296+ 2T- >A CFMDB_1401 commonName 296+ 2T- >G CFMDB_1130 commonName 296+ 1G- >T CFMDB_647 commonName 296+ 9A- >T CFMDB_971 commonName 296+ 3insT CFMDB_1979 protEffect p.Tyr89ArgfsX4 CFMDB_904 commonName 297- 67A/C CFMDB_1343 commonName 297- 55C/T CFMDB_38 commonName 297- 3C- >T CFMDB_850 commonName 297- 3C- >A CFMDB_1555 commonName 297- 73 A/G CFMDB_36 commonName 297- 28insA CFMDB_1187 commonName 297- 12insA CFMDB_1626 commonName 297- 45 A- >G CFMDB_1052 commonName 297- 10T- >G CFMDB_37 commonName 297- 2A- >G CFMDB_892 commonName 297- 50A/G CFMDB_1553 commonName 297- 57 G/T CFMDB_624 protEffect p.Glu56Lys CFMDB_624 commonName E56K CFMDB_39 protEffect p.Glu56AspfsX35 CFMDB_39 commonName 300delA CFMDB_731 protEffect p.Trp57Arg CFMDB_731 commonName W57R CFMDB_40 protEffect p.Trp57Gly CFMDB_40 commonName W57G CFMDB_41 protEffect p.Trp57X CFMDB_41 commonName W57X(TAG) CFMDB_1143 protEffect p.Trp57X CFMDB_1143 commonName W57X(TGA) CFMDB_625 protEffect p.Asp58Asn CFMDB_625 commonName D58N CFMDB_1119 protEffect p.Asp58Gly CFMDB_1119 commonName D58G CFMDB_43 protEffect p.Arg59LysfsX10 CFMDB_43 commonName 306insA CFMDB_42 protEffect p.Asp58GlufsX32 CFMDB_42 commonName 306delTAGA CFMDB_1123 protEffect p.Glu60Lys CFMDB_1123 commonName E60K CFMDB_44 protEffect p.Glu60X CFMDB_44 commonName E60X CFMDB_1465 protEffect p.Leu61Pro CFMDB_1465 commonName L61P CFMDB_1355 protEffect p.Lys64Glu CFMDB_1355 commonName K64E CFMDB_45 protEffect p.Asn66Ser CFMDB_45 commonName N66S CFMDB_46 protEffect p.Pro67Leu CFMDB_46 commonName P67L CFMDB_810 protEffect p.Lys68Glu CFMDB_810 commonName K68E CFMDB_47 protEffect p.Lys68Asn CFMDB_47 commonName K68N CFMDB_1717 protEffect p.Leu69Arg CFMDB_1003 commonName 345T/C CFMDB_1045 protEffect p.Ala72Thr CFMDB_1045 commonName A72T CFMDB_48 protEffect p.Leu73PhefsX18 CFMDB_48 commonName 347delC CFMDB_648 protEffect p.Ala72Asp CFMDB_648 commonName A72D CFMDB_49 protEffect p.Arg74Trp CFMDB_49 commonName R74W CFMDB_1082 protEffect p.Arg74Gln CFMDB_1082 commonName R74Q CFMDB_50 protEffect p.Arg75X CFMDB_50 commonName R75X CFMDB_1004 protEffect p.Arg75Gln CFMDB_1004 commonName R75Q CFMDB_51 protEffect p.Arg75Leu CFMDB_51 commonName R75L CFMDB_52 protEffect p.Trp79LeufsX32 CFMDB_52 commonName 359insT CFMDB_1715 protEffect p.Cys76Trp CFMDB_1439 protEffect p.Trp79LeufsX32 CFMDB_1439 commonName 365- 366insT (W79fs) CFMDB_805 protEffect p.Phe78SerfsX13 CFMDB_805 commonName 360delT CFMDB_1334 protEffect p.Trp79LeufsX32 CFMDB_1334 commonName 360- 365insT CFMDB_1781 protEffect p.Trp79GlyfsX12 CFMDB_53 protEffect p.Trp79Arg CFMDB_53 commonName W79R CFMDB_54 protEffect p.Trp79X CFMDB_54 commonName W79X CFMDB_1548 protEffect p.Met82Val CFMDB_1548 commonName M82V CFMDB_1335 protEffect p.Tyr84LeufsX27 CFMDB_1335 commonName 379- 381insT CFMDB_1583 protEffect p.Tyr84His CFMDB_1583 commonName Y84H CFMDB_56 protEffect p.Gly85Val CFMDB_56 commonName G85V CFMDB_55 protEffect p.Gly85Glu CFMDB_55 commonName G85E CFMDB_58 protEffect p.Phe87Leu CFMDB_58 commonName F87L CFMDB_1728 protEffect p.Phe87Ile CFMDB_1848 protEffect p.Phe87Ser CFMDB_1848 commonName F87S CFMDB_57 protEffect p.Leu88IlefsX22 CFMDB_57 commonName 394delTT CFMDB_59 protEffect p.Leu88Ser CFMDB_59 commonName L88S CFMDB_61 protEffect p.Leu88X CFMDB_61 commonName L88X(T- >G) CFMDB_60 protEffect p.Leu88X CFMDB_60 commonName L88X(T- >A) CFMDB_1988 protEffect p.Leu88PhefsX21 CFMDB_1092 protEffect p.Tyr89Cys CFMDB_1092 commonName Y89C CFMDB_1133 protEffect p.Leu90Ser CFMDB_1133 commonName L90S CFMDB_62 protEffect p.Gly91Arg CFMDB_62 commonName G91R CFMDB_64 commonName 405+ 3A- >C CFMDB_1826 commonName 405+ 10247C>T CFMDB_1827 commonName 405+ 10255delC CFMDB_63 commonName 405+ 1G- >A CFMDB_840 commonName 405+ 42A/G CFMDB_65 commonName 405+ 4A- >G CFMDB_905 commonName 405+ 46G/T CFMDB_1203 commonName 406- 13T/C CFMDB_66 commonName 406- 10C- >G CFMDB_67 commonName 406- 6T- >C CFMDB_848 commonName 406- 3T- >C CFMDB_68 commonName 406- 2A- >C CFMDB_69 commonName 406- 1G- >C CFMDB_70 commonName 406- 1G- >T CFMDB_906 commonName 406- 112T/A CFMDB_631 commonName 406- 2A- >G CFMDB_1671 commonName 406- 82T/A CFMDB_71 protEffect p.Glu92Lys CFMDB_71 commonName E92K CFMDB_72 protEffect p.Glu92X CFMDB_72 commonName E92X CFMDB_885 commonName 406- 1G- >A CFMDB_1403 commonName 406- 5T- >G CFMDB_1065 commonName 406- 83A/G CFMDB_1422 protEffect p.Glu92Asp CFMDB_1422 commonName E92D CFMDB_1815 protEffect p.Val93Asp CFMDB_636 protEffect p.Thr94GlnfsX11 CFMDB_636 commonName 412del7- >TA CFMDB_1134 protEffect p.Ala96Glu CFMDB_1134 commonName A96E CFMDB_73 protEffect p.Gln98X CFMDB_73 commonName Q98X CFMDB_74 protEffect p.Gln98Arg CFMDB_74 commonName Q98R CFMDB_1214 protEffect p.Gln98Pro CFMDB_1214 commonName Q98P CFMDB_75 protEffect p.Pro99Leu CFMDB_75 commonName P99L CFMDB_1352 protEffect p.Leu101Ser CFMDB_1352 commonName L101S CFMDB_593 protEffect p.Leu101X CFMDB_593 commonName L101X CFMDB_76 protEffect p.Leu102ThrfsX9 CFMDB_76 commonName 435insA CFMDB_1485 protEffect p.Leu102Arg CFMDB_1485 commonName L102R CFMDB_1254 protEffect p.Leu102Pro CFMDB_1254 commonName L102P CFMDB_77 protEffect p.Gly103X CFMDB_77 commonName G103X CFMDB_78 protEffect p.Arg104GlufsX3 CFMDB_78 commonName 441delA CFMDB_79 protEffect p.Ile105SerfsX2 CFMDB_79 commonName 444delA CFMDB_1108 protEffect p.Ile105Asn CFMDB_1108 commonName I105N CFMDB_735 protEffect p.Ala107X CFMDB_735 commonName 451del8 CFMDB_1629 protEffect p.Ala107Gly CFMDB_1629 commonName A107G CFMDB_80 protEffect p.Ser108Phe CFMDB_80 commonName S108F CFMDB_891 protEffect p.Tyr109Asn CFMDB_891 commonName Y109N CFMDB_81 protEffect p.Tyr109GlyfsX4 CFMDB_81 commonName 457TAT- >G CFMDB_1811 protEffect p.Tyr109His CFMDB_82 protEffect p.Tyr109Cys CFMDB_82 commonName Y109C CFMDB_863 protEffect p.Tyr109X CFMDB_863 commonName 458delAT CFMDB_1342 protEffect p.Tyr109X CFMDB_1342 commonName Y109X CFMDB_1290 protEffect p.Asp110Asn CFMDB_1290 commonName D110N CFMDB_84 protEffect p.Asp110His CFMDB_84 commonName D110H CFMDB_1124 protEffect p.Asp110Tyr CFMDB_1124 commonName D110Y CFMDB_83 protEffect p.Asp110ThrfsX14 CFMDB_83 commonName 460delG CFMDB_1097 protEffect p.Asp110Glu CFMDB_1097 commonName D110E CFMDB_696 protEffect p.Pro111Ala CFMDB_696 commonName P111A CFMDB_85 protEffect p.Pro111Leu CFMDB_85 commonName P111L CFMDB_1062 commonName 465G/A CFMDB_1630 protEffect p.Asn113Ile CFMDB_1630 commonName N113I CFMDB_1416 protEffect p.Lys114X CFMDB_1416 commonName K114X CFMDB_86 protEffect p.Glu115del CFMDB_86 commonName [delta]E115 CFMDB_1116 protEffect p.Glu116Gln CFMDB_1116 commonName E116Q CFMDB_87 protEffect p.Glu116Lys CFMDB_87 commonName E116K CFMDB_88 protEffect p.Arg117Cys CFMDB_88 commonName R117C CFMDB_1464 protEffect p.Arg117Gly CFMDB_1464 commonName R117G CFMDB_89 protEffect p.Arg117His CFMDB_89 commonName R117H CFMDB_90 protEffect p.Arg117Pro CFMDB_90 commonName R117P CFMDB_91 protEffect p.Arg117Leu CFMDB_91 commonName R117L CFMDB_1231 protEffect p.Ile119Val CFMDB_1231 commonName I119V CFMDB_1423 protEffect p.Ile119MetfsX5 CFMDB_1423 commonName 489delC CFMDB_1552 commonName 489 C/T CFMDB_92 protEffect p.Ala120Thr CFMDB_92 commonName A120T CFMDB_1278 protEffect p.Ala120Val CFMDB_1278 commonName A120V CFMDB_1005 commonName 492G/A CFMDB_1495 protEffect p.Tyr122His CFMDB_1495 commonName Y122H CFMDB_1624 protEffect p.Tyr122Cys CFMDB_1624 commonName Y122C CFMDB_93 protEffect p.Tyr122X CFMDB_93 commonName Y122X CFMDB_1850 protEffect p.Gly124Arg CFMDB_1850 commonName G124R CFMDB_882 protEffect p.Ile125Thr CFMDB_882 commonName I125T CFMDB_1729 protEffect p.Gly126Ser CFMDB_94 protEffect p.Gly126Asp CFMDB_94 commonName G126D CFMDB_1864 protEffect p.Leu127dup CFMDB_1864 commonName L127dup CFMDB_95 protEffect p.Leu127X CFMDB_95 commonName L127X CFMDB_1805 protEffect p.Cys128Arg CFMDB_1447 protEffect p.Leu130SerfsX? CFMDB_1447 commonName 519delT CFMDB_1693 protEffect p.Leu130Val CFMDB_1693 commonName L130V CFMDB_857 protEffect p.Phe131LeufsX3 CFMDB_857 commonName 525delT CFMDB_739 protEffect p.Ile132Met CFMDB_739 commonName I132M CFMDB_1877 protEffect p.Leu136HisfsX18 CFMDB_96 protEffect p.Leu137SerfsX16 CFMDB_96 commonName 541delC CFMDB_97 protEffect p.Leu137TyrfsX15 CFMDB_97 commonName 541del4 CFMDB_649 protEffect p.Leu137Pro CFMDB_649 commonName L137P CFMDB_611 protEffect p.Leu137His CFMDB_611 commonName L137H CFMDB_732 protEffect p.Leu137Arg CFMDB_732 commonName L137R CFMDB_626 protEffect p.Leu137_Leu138insThr CFMDB_626 commonName L138ins CFMDB_1006 protEffect p.Leu138Pro CFMDB_1006 commonName 545T/C CFMDB_1118 protEffect p.Leu139X CFMDB_1118 commonName 546insCTA CFMDB_650 protEffect p.His139LeufsX15 CFMDB_650 commonName 547insTA CFMDB_1589 protEffect p.His139ArgfsX15 CFMDB_1589 commonName 547insGA CFMDB_1217 protEffect p.His139Leu CFMDB_1217 commonName H139L CFMDB_98 protEffect p.His139Arg CFMDB_98 commonName H139R CFMDB_711 commonName 549C/T CFMDB_99 protEffect p.Pro140Ser CFMDB_99 commonName P140S CFMDB_802 protEffect p.Pro140Leu CFMDB_802 commonName P140L CFMDB_100 protEffect p.Ala141SerfsX18 CFMDB_100 commonName 552insA CFMDB_101 protEffect p.Ala141Asp CFMDB_101 commonName A141D CFMDB_102 protEffect p.Ile142PhefsX11 CFMDB_102 commonName 556delA CFMDB_103 protEffect p.Phe143LeufsX10 CFMDB_103 commonName 557delT CFMDB_600 protEffect p.Leu145PhefsX8 CFMDB_600 commonName 565delC CFMDB_1473 protEffect p.Leu145His CFMDB_1473 commonName L145H CFMDB_651 protEffect p.His146Arg CFMDB_651 commonName H146R CFMDB_1774 protEffect p.Ile148Phe CFMDB_104 protEffect p.Ile148LeufsX5 CFMDB_104 commonName 574delA CFMDB_601 protEffect p.Ile148Asn CFMDB_601 commonName I148N CFMDB_105 protEffect p.Ile148Thr CFMDB_105 commonName I148T CFMDB_1295 protEffect p.Leu149ins CFMDB_1295 commonName 576insCTA CFMDB_106 protEffect p.Gly149Arg CFMDB_106 commonName G149R CFMDB_1806 protEffect p.Gly149X CFMDB_1521 protEffect p.Gly149Val CFMDB_1521 commonName G149V CFMDB_1424 protEffect p.Gln151Lys CFMDB_1424 commonName Q151K CFMDB_107 protEffect p.Gln151X CFMDB_107 commonName Q151X CFMDB_108 protEffect p.Met152Val CFMDB_108 commonName M152V CFMDB_1524 protEffect p.Met152Leu CFMDB_1524 commonName M152L CFMDB_979 protEffect p.Met152Arg CFMDB_979 commonName M152R CFMDB_109 protEffect p.Ala155_Ile160del CFMDB_109 commonName 591del18 CFMDB_843 protEffect p.Ala155Pro CFMDB_843 commonName A155P CFMDB_1731 protEffect p.Phe157Tyr CFMDB_1188 protEffect p.Ser158Arg CFMDB_1188 commonName S158R CFMDB_1989 protEffect p.Ser158LysfsX5 CFMDB_1644 protEffect p.Ser158Asn CFMDB_1644 commonName S158N CFMDB_1613 protEffect p.Ser158Thr CFMDB_1613 commonName S158T CFMDB_1723 protEffect p.Ser158Asn CFMDB_110 protEffect p.Leu159PhefsX4 CFMDB_110 commonName 605insT CFMDB_1132 protEffect p.Leu159X CFMDB_1132 commonName L159X CFMDB_1271 protEffect p.Leu159Ser CFMDB_1271 commonName L159S CFMDB_1064 protEffect No Changes CFMDB_1064 commonName 612T/A CFMDB_1178 protEffect p.Tyr161Asn CFMDB_1178 commonName Y161N CFMDB_996 protEffect p.Tyr161Asp CFMDB_996 commonName Y161D CFMDB_1063 protEffect p.Tyr161Ser CFMDB_1063 commonName Y161S CFMDB_798 protEffect p.Lys162Glu CFMDB_798 commonName K162E CFMDB_1860 protEffect p.Lys163Thr CFMDB_1860 commonName K163T CFMDB_113 commonName 621+ 2T- >C CFMDB_1061 commonName 621+ 31C/G CFMDB_111 commonName 621G- >A CFMDB_112 commonName 621+ 1G- >T CFMDB_114 commonName 621+ 2T- >G CFMDB_836 commonName 621+ 3A- >G CFMDB_988 commonName 622- 152G/C CFMDB_1572 commonName 622- 16 T/C CFMDB_115 commonName 622- 2A- >C CFMDB_116 commonName 622- 1G- >A CFMDB_822 commonName 622- 103A/G CFMDB_1420 commonName 622- 2A- >G CFMDB_986 commonName 622- 116A/G CFMDB_1874 protEffect p.Thr164Ala CFMDB_1874 commonName T164A CFMDB_117 protEffect p.Leu165X CFMDB_117 commonName 624delT CFMDB_118 protEffect p.Leu165Ser CFMDB_118 commonName L165S CFMDB_119 protEffect p.Lys166Glu CFMDB_119 commonName K166Q CFMDB_1735 protEffect p.Leu167Arg CFMDB_120 protEffect p.Arg170Cys CFMDB_120 commonName R170C CFMDB_868 protEffect p.Arg170Gly CFMDB_868 commonName R170G CFMDB_1183 protEffect p.Arg170His CFMDB_1183 commonName R170H CFMDB_1679 protEffect p.Ile175TyrfsX6 CFMDB_1679 commonName 650delATAAA CFMDB_121 protEffect p.Ile175Val CFMDB_121 commonName I175V CFMDB_122 protEffect p.Ser176ValfsX13 CFMDB_122 commonName 657delA CFMDB_652 protEffect p.Ile177Thr CFMDB_652 commonName I177T CFMDB_888 protEffect p.Ile177MetfsX12 CFMDB_888 commonName 663delT CFMDB_1856 protEffect p.Ile177Met CFMDB_1856 commonName I177M CFMDB_123 protEffect p.Gly178Arg CFMDB_123 commonName G178R CFMDB_1441 protEffect p.Gly178Glu CFMDB_1441 commonName G178E CFMDB_1079 protEffect p.Gln179Lys CFMDB_1079 commonName Q179K CFMDB_823 protEffect p.Leu183PhefsX5 CFMDB_823 commonName 675del4 CFMDB_1008 protEffect p.Ser182Gly CFMDB_1008 commonName 676A/G CFMDB_1466 protEffect p.Leu183Ile CFMDB_1466 commonName L183I CFMDB_124 protEffect p.Leu184PhefsX5 CFMDB_124 commonName 681delC CFMDB_878 protEffect p.Asn186Lys CFMDB_878 commonName N186K CFMDB_987 protEffect p.Asn187Lys CFMDB_987 commonName N187K CFMDB_1525 protEffect p.Asn189Ser CFMDB_1525 commonName N189S CFMDB_1482 protEffect p.Asn189Lys CFMDB_1482 commonName N189K CFMDB_127 protEffect p.Asp192del CFMDB_127 commonName [delta]D192 CFMDB_125 protEffect p.Asp192Asn CFMDB_125 commonName D192N CFMDB_126 protEffect p.Asp192Gly CFMDB_126 commonName D192G CFMDB_128 protEffect p.Glu193Lys CFMDB_128 commonName E193K CFMDB_129 protEffect p.Glu193X CFMDB_129 commonName E193X CFMDB_1690 protEffect p.Glu193ValfsX20 CFMDB_1690 commonName 710_711+ 5del7 CFMDB_131 commonName 711+ 3A- >C CFMDB_130 commonName 711+ 1G- >T CFMDB_653 commonName 711+ 34A- >G CFMDB_132 commonName 711+ 3A- >G CFMDB_133 commonName 711+ 3A- >T CFMDB_134 commonName 711+ 5G- >A CFMDB_135 commonName 712- 1G- >T CFMDB_691 commonName 712- 92T/A CFMDB_1487 protEffect p.Gly194Arg CFMDB_1487 commonName G194R CFMDB_1135 protEffect p.Gly194Val CFMDB_1135 commonName G194V CFMDB_1068 protEffect p.Ala198Pro CFMDB_1068 commonName A198P CFMDB_1841 protEffect p.Ala198Thr CFMDB_1841 commonName A198T CFMDB_136 protEffect p.His199Tyr CFMDB_136 commonName H199Y CFMDB_1296 protEffect p.His199Arg CFMDB_1296 commonName H199R CFMDB_137 protEffect p.His199Gln CFMDB_137 commonName H199Q CFMDB_1224 protEffect p.Phe200Ile CFMDB_1224 commonName F200I CFMDB_1136 protEffect p.Val201Met CFMDB_1136 commonName V201M CFMDB_1647 protEffect p.Val201CysfsX14 CFMDB_1647 commonName 733delG CFMDB_1277 protEffect p.Trp202X CFMDB_1277 commonName W202X CFMDB_1009 commonName 741C/T CFMDB_1438 protEffect p.Ile203Met CFMDB_1438 commonName I203M CFMDB_138 protEffect p.Pro205Ser CFMDB_138 commonName P205S CFMDB_1297 protEffect p.Pro205Arg CFMDB_1297 commonName P205R CFMDB_1895 protEffect p.Pro205Leu CFMDB_139 protEffect p.Leu206Trp CFMDB_139 commonName L206W CFMDB_725 protEffect p.Leu206Phe CFMDB_725 commonName L206F CFMDB_140 protEffect p.Gln207X CFMDB_140 commonName Q207X CFMDB_942 protEffect p.Ala209Ser CFMDB_942 commonName A209S CFMDB_974 commonName 759A/G (A209A)) CFMDB_1347 protEffect p.Leu210Pro CFMDB_1347 commonName L210P CFMDB_1298 commonName G213V CFMDB_997 protEffect p.Trp216X CFMDB_997 commonName W216X CFMDB_1684 protEffect p.Trp216Cys CFMDB_1684 commonName W216C CFMDB_844 protEffect p.Glu217Gly CFMDB_844 commonName E217G CFMDB_1794 protEffect p.Glu217GlyfsX11 CFMDB_585 protEffect p.Leu218X CFMDB_585 commonName L218X CFMDB_141 protEffect p.Gln220X CFMDB_141 commonName Q220X CFMDB_894 protEffect p.Gln220Arg CFMDB_894 commonName Q220R CFMDB_1449 commonName 795G/A CFMDB_142 protEffect p.Cys225Arg CFMDB_142 commonName C225R CFMDB_646 protEffect p.Cys225X CFMDB_646 commonName C225X CFMDB_143 protEffect p.Leu227Arg CFMDB_143 commonName L227R CFMDB_144 protEffect p.Val232Asp CFMDB_144 commonName V232D CFMDB_1865 protEffect p.Leu233Phe CFMDB_1865 commonName L233F CFMDB_1701 protEffect p.Ala234Asp CFMDB_1789 protEffect p.Gln237ArgfsX4 CFMDB_145 protEffect p.Gln237Glu CFMDB_145 commonName Q237E CFMDB_1869 protEffect p.Gln237His CFMDB_1869 commonName Q237H CFMDB_1537 protEffect p.Ala238Val CFMDB_1537 commonName A238V CFMDB_1801 protEffect p.Leu240X CFMDB_146 protEffect p.Gly239Arg CFMDB_146 commonName G239R CFMDB_2014 protEffect p.Leu240X CFMDB_147 protEffect p.Gly241GlufsX13 CFMDB_147 commonName 852del22 CFMDB_635 protEffect p.Gly241Arg CFMDB_635 commonName G241R CFMDB_1013 protEffect p.Met243Leu CFMDB_1013 commonName M243L CFMDB_1946 protEffect p.Met243Val CFMDB_148 protEffect p.Met244Lys CFMDB_148 commonName M244K CFMDB_1010 commonName 873C/T CFMDB_149 protEffect p.Tyr247X CFMDB_149 commonName Y247X CFMDB_1503 protEffect p.Arg248IlefsX? CFMDB_1503 commonName 874Ins TACA CFMDB_151 commonName 875+ 1G- >C CFMDB_820 protEffect p.Arg248Thr CFMDB_820 commonName R248T CFMDB_150 commonName 875+ 1G- >A CFMDB_909 commonName 875+ 40A/G CFMDB_1828 commonName 875+ 4G>T CFMDB_1571 commonName 876- 8 A- >C CFMDB_1036 commonName 876- 3C- >T CFMDB_152 commonName 876- 14del12 CFMDB_153 commonName 876- 10del8 CFMDB_910 commonName TTGA repeats CFMDB_1845 protEffect p.Glu257Lys CFMDB_1845 commonName E257K CFMDB_154 protEffect p.Arg258Gly CFMDB_154 commonName R258G CFMDB_155 protEffect p.Arg258AsnfsX3 CFMDB_155 commonName 905delG CFMDB_1748 protEffect p.Leu259SerfsX7 CFMDB_156 protEffect p.Met265Arg CFMDB_156 commonName M265R CFMDB_968 protEffect p.Asn268IlefsX17 CFMDB_968 commonName 935delA CFMDB_157 protEffect p.Ile269ProfsX4 CFMDB_157 commonName 936delTA CFMDB_1779 protEffect p.Tyr275X CFMDB_158 protEffect p.Cys276X CFMDB_158 commonName C276X CFMDB_1418 protEffect p.Trp277Arg CFMDB_1418 commonName W277R CFMDB_762 protEffect p.Glu279del CFMDB_762 commonName E278del CFMDB_1687 protEffect p.Glu279Asp CFMDB_1687 commonName E279D CFMDB_1539 protEffect p.Glu279Asp CFMDB_1539 commonName E279D CFMDB_1272 protEffect p.Met281Thr CFMDB_1272 commonName M281T CFMDB_159 protEffect p.Met284AsnfsX3 CFMDB_159 commonName 977insA CFMDB_1846 protEffect p.Glu282Asp CFMDB_1846 commonName E282D CFMDB_1506 protEffect p.Ile285Phe CFMDB_1506 commonName I285F CFMDB_1281 protEffect p.Asn287LysfsX21 CFMDB_1281 commonName 989- 992insA CFMDB_591 protEffect p.Asn287Tyr CFMDB_591 commonName N287Y CFMDB_654 protEffect p.Asn287LysfsX19 CFMDB_654 commonName 991del5 CFMDB_1788 protEffect p.Asn287Lys CFMDB_856 protEffect p.Leu288fsX? CFMDB_856 commonName 994del9 CFMDB_160 protEffect p.Gln290X CFMDB_160 commonName Q290X CFMDB_1329 protEffect p.Asn287LysfsX21 CFMDB_1329 commonName 1001+ 4A- >C+ 993delCTTAA CFMDB_911 commonName 1001+ 11C/T CFMDB_912 commonName 1001+ 12C/T CFMDB_1386 commonName 1001+ 3A>T CFMDB_913 commonName 1002- 56C/G CFMDB_1387 commonName 1002- 7delTTT CFMDB_1663 commonName 1002- 2A>G CFMDB_161 commonName 1002- 3T- >G CFMDB_655 protEffect p.Glu292Lys CFMDB_655 commonName E292K CFMDB_1299 protEffect p.Leu293Met CFMDB_1299 commonName L293M CFMDB_162 protEffect p.Lys294ThrfsX13 CFMDB_162 commonName 1013delAA CFMDB_749 protEffect p.Arg297Trp CFMDB_749 commonName R297W CFMDB_163 protEffect p.Arg297Gln CFMDB_163 commonName R297Q CFMDB_1144 protEffect p.Ala299Thr CFMDB_1144 commonName A299T CFMDB_164 protEffect p.Tyr301Cys CFMDB_164 commonName Y301C CFMDB_165 protEffect p.Tyr304X CFMDB_165 commonName Y304X CFMDB_1516 protEffect p.Phe305Val CFMDB_1516 commonName F305V CFMDB_1011 commonName 1047C/T CFMDB_832 protEffect p.Ser307Asn CFMDB_832 commonName S307N CFMDB_1300 protEffect p.Ala309Thr CFMDB_1300 commonName A309T CFMDB_167 protEffect p.Phe310SerfsX18 CFMDB_167 commonName 1058delC CFMDB_1301 protEffect p.Ala309Val CFMDB_1301 commonName A309V CFMDB_656 protEffect p.Ala309Gly CFMDB_656 commonName A309G CFMDB_166 protEffect p.Ala309Asp CFMDB_166 commonName A309D CFMDB_859 commonName A309A (1059C/G) CFMDB_168 protEffect p.Phe312del CFMDB_168 commonName [delta]F311 CFMDB_169 protEffect p.Phe311Leu CFMDB_169 commonName F311L CFMDB_1483 protEffect p.Ser313X CFMDB_1483 commonName S313X CFMDB_170 protEffect p.Gly314Arg CFMDB_170 commonName G314R CFMDB_737 protEffect p.Gly314Val CFMDB_737 commonName G314V CFMDB_171 protEffect p.Gly314Glu CFMDB_171 commonName G314E CFMDB_1163 protEffect p.Phe316Leu CFMDB_1163 commonName F316L CFMDB_172 protEffect p.Phe316LeufsX12 CFMDB_172 commonName 1078delT CFMDB_173 protEffect p.Val317Ala CFMDB_173 commonName V317A CFMDB_1367 commonName 1086G/A CFMDB_1886 protEffect p.Phe319Val CFMDB_174 protEffect p.Leu320Val CFMDB_174 commonName L320V CFMDB_1228 protEffect p.Leu320X CFMDB_1228 commonName L320X CFMDB_1173 commonName 1092A/G CFMDB_175 protEffect p.Leu320Phe CFMDB_175 commonName L320F CFMDB_1405 protEffect p.Ser321Pro CFMDB_1405 commonName S321P CFMDB_870 protEffect p.Val322Met CFMDB_870 commonName V322M (1096(G/A)) CFMDB_176 protEffect p.Val322Ala CFMDB_176 commonName V322A CFMDB_746 commonName 1098G/A CFMDB_1698 protEffect p.Pro324Leu CFMDB_1698 commonName P324L CFMDB_871 commonName 1104(C/G) CFMDB_1873 protEffect p.Tyr325Cys CFMDB_1873 commonName Y325C CFMDB_1786 protEffect p.Tyr325Cys CFMDB_177 protEffect p.Leu327Arg CFMDB_177 commonName L327R CFMDB_825 protEffect p.Leu327GlnfsX42 CFMDB_825 commonName 1112delT CFMDB_178 protEffect p.Gly330GlufsX39 CFMDB_178 commonName 1119delA CFMDB_179 protEffect p.Gly330X CFMDB_179 commonName G330X CFMDB_1692 protEffect p.Ile331Asn CFMDB_1692 commonName I331N CFMDB_1866 protEffect p.Leu333Phe CFMDB_1866 commonName L333F CFMDB_180 protEffect p.Arg334Trp CFMDB_180 commonName R334W CFMDB_632 protEffect p.Arg334Leu CFMDB_632 commonName R334L CFMDB_181 protEffect p.Arg334Gln CFMDB_181 commonName R334Q CFMDB_182 protEffect p.Ile336SerfsX28 CFMDB_182 commonName 1138insG CFMDB_1911 protEffect p.Ile336Leu CFMDB_183 protEffect p.Ile336Lys CFMDB_183 commonName I336K CFMDB_1496 protEffect p.Thr338Ala CFMDB_1496 commonName T338A CFMDB_184 protEffect p.Thr338Ile CFMDB_184 commonName T338I CFMDB_1587 protEffect p.Thr339del CFMDB_1587 commonName [delta]T339 CFMDB_1681 protEffect p.Phe342HisfsX28 CFMDB_1681 commonName 1150insTC CFMDB_185 protEffect p.Ile340SerfsX29 CFMDB_185 commonName 1150delA CFMDB_1302 protEffect p.Ile340Asn CFMDB_1302 commonName I340N CFMDB_1371 protEffect p.Phe337_Ile340dup CFMDB_1371 commonName 1151ins12 CFMDB_1477 protEffect p.Ser341Pro CFMDB_1477 commonName S341P CFMDB_186 protEffect p.Phe342HisfsX28 CFMDB_186 commonName 1154insTC CFMDB_187 protEffect p.Cys343X CFMDB_187 commonName 1161delC CFMDB_188 protEffect p.Ile344AspfsX20 CFMDB_188 commonName 1161insG CFMDB_1554 commonName 1164 T/A CFMDB_1887 protEffect p.Leu346Leu CFMDB_189 protEffect p.Leu346Pro CFMDB_189 commonName L346P CFMDB_190 protEffect p.Arg347Cys CFMDB_190 commonName R347C CFMDB_191 protEffect p.Arg347His CFMDB_191 commonName R347H CFMDB_192 protEffect p.Arg347Leu CFMDB_192 commonName R347L CFMDB_193 protEffect p.Arg347Pro CFMDB_193 commonName R347P CFMDB_1467 protEffect p.Met348Val CFMDB_1467 commonName M348V CFMDB_194 protEffect p.Met348Lys CFMDB_194 commonName M348K CFMDB_1545 protEffect p.Met348Thr CFMDB_1545 commonName M348T CFMDB_195 protEffect p.Ala349Val CFMDB_195 commonName A349V CFMDB_864 protEffect p.Thr351Ser CFMDB_864 commonName T351S CFMDB_1699 protEffect p.Thr351Ile CFMDB_1699 commonName T351I CFMDB_1395 protEffect p.Arg352AlafsX11 CFMDB_1395 commonName 1185delTC CFMDB_1346 protEffect p.Arg352Gly CFMDB_1346 commonName R352G CFMDB_605 protEffect p.Arg352Trp CFMDB_605 commonName R352W CFMDB_196 protEffect p.Arg352Gln CFMDB_196 commonName R352Q CFMDB_1099 protEffect p.Gln353X CFMDB_1099 commonName Q353X CFMDB_865 protEffect p.Gln353His CFMDB_865 commonName Q353H CFMDB_1535 protEffect p.Pro355Ser CFMDB_1535 commonName P355S CFMDB_1408 protEffect p.Trp356Ser CFMDB_1408 commonName W356S CFMDB_657 protEffect p.Ala357LeufsX12 CFMDB_657 commonName 1199delG CFMDB_803 protEffect p.Trp356X CFMDB_803 commonName W356X CFMDB_197 protEffect p.[Gln359Lys;Thr360Lys] CFMDB_197 commonName Q359K/T360K CFMDB_1146 protEffect p.Gln359Arg CFMDB_1146 commonName Q359R CFMDB_704 protEffect p.Thr360Arg CFMDB_704 commonName T360R CFMDB_199 protEffect p.Trp361Arg CFMDB_199 commonName W361R(T- >C) CFMDB_1042 protEffect p.Trp361Arg CFMDB_1042 commonName W361R(T- >A) CFMDB_198 protEffect p.Trp361GlyfsX8 CFMDB_198 commonName 1213delT CFMDB_200 protEffect p.Trp361CysfsX8 CFMDB_200 commonName 1215delG CFMDB_1754 protEffect p.Tyr362X CFMDB_1792 protEffect p.Tyr362X CFMDB_201 protEffect p.Leu365TrpfsX16 CFMDB_201 commonName 1221delCT CFMDB_1893 protEffect p.Asp363_Ser364delinsGluIle CFMDB_202 protEffect p.Ser364Pro CFMDB_202 commonName S364P CFMDB_1125 protEffect p.Leu365Pro CFMDB_1125 commonName L365P CFMDB_1667 commonName 1233A/T CFMDB_203 protEffect p.Lys370_Ile371insThrLys CFMDB_203 commonName 1243ins6 CFMDB_1969 protEffect p.Gln372X CFMDB_1303 commonName 1248+ 1G- >C CFMDB_914 commonName 1248+ 17C- >T CFMDB_1570 commonName 1248+ 31 A/C CFMDB_592 commonName 1248+ 52T/C CFMDB_204 commonName 1248+ 1G- >A CFMDB_915 commonName 1249- 82C/T CFMDB_205 commonName 1249- 5A- >G CFMDB_1611 commonName 1249- 31A- >G CFMDB_883 commonName 1249- 27delTA CFMDB_586 commonName 1249- 30delAT CFMDB_1576 protEffect p.Asp373Glu CFMDB_1576 commonName D373E CFMDB_206 protEffect p.Leu375Phe CFMDB_206 commonName L375F CFMDB_588 protEffect p.Gln378AlafsX4 CFMDB_588 commonName 1259insA CFMDB_1261 protEffect p.Gln378Arg CFMDB_1261 commonName Q378R CFMDB_1225 protEffect p.Glu379Lys CFMDB_1225 commonName E379K CFMDB_1129 protEffect p.Glu379X CFMDB_1129 commonName E379X CFMDB_710 protEffect p.Leu383Ser CFMDB_710 commonName L383S CFMDB_1147 commonName L383L (1281G/A) CFMDB_207 protEffect p.Glu384AspfsX4 CFMDB_207 commonName 1283delA CFMDB_1362 protEffect p.Asn386IlefsX3 CFMDB_1362 commonName 1288insTA CFMDB_1683 protEffect p.Leu387ThrfsX2 CFMDB_1683 commonName 1289insTA CFMDB_1269 protEffect p.Leu387AsnfsX23 CFMDB_1269 commonName 1291delTT CFMDB_695 protEffect p.Thr388GlnfsX3 CFMDB_695 commonName 1294del7 CFMDB_208 protEffect p.Thr388X CFMDB_208 commonName T388X CFMDB_658 protEffect p.Thr388Met CFMDB_658 commonName T388M CFMDB_209 commonName 1296G/T CFMDB_659 protEffect p.Val392Ala CFMDB_659 commonName V392A CFMDB_816 protEffect p.Val392Gly CFMDB_816 commonName V392G CFMDB_604 protEffect p.Val393X CFMDB_604 commonName 1309delG CFMDB_1137 protEffect p.Met394Arg CFMDB_1137 commonName M394R CFMDB_1680 protEffect p.Asn396Tyr CFMDB_1680 commonName N369Y CFMDB_1000 protEffect p.Thr398AsnfsX13 CFMDB_1000 commonName 1323insA CFMDB_1685 protEffect p.Ala399Val CFMDB_1685 commonName I1328T CFMDB_1273 protEffect p.Ala399Asp CFMDB_1273 commonName A399D CFMDB_1083 protEffect p.Ala399Val CFMDB_1083 commonName A399V CFMDB_718 protEffect p.Trp401X CFMDB_718 commonName W401X(TAG) CFMDB_211 protEffect p.Trp401X CFMDB_211 commonName W401X(TGA) CFMDB_212 commonName 1341+ 18A- >C CFMDB_980 commonName 1341+ 28C/T CFMDB_1569 commonName 1341+ 79 C/T CFMDB_1148 protEffect p.Glu403Asp CFMDB_1148 commonName E403D CFMDB_618 commonName 1341+ 1G- >A CFMDB_1509 commonName 1341+ 80G>A CFMDB_1041 commonName 1341G- >A CFMDB_1639 commonName 1341+ 6 A- >G CFMDB_1361 commonName poly- T tract variations CFMDB_214 commonName 1342- 2A- >C CFMDB_873 commonName 1342- 1G- >C CFMDB_215 commonName 1342- 2delAG CFMDB_1678 commonName 1342- 1delG CFMDB_919 commonName 1342- 13G/T CFMDB_213 commonName 1342- 11TTT- >G CFMDB_957 commonName 1342- 265(GT)n CFMDB_918 commonName 1342- 12(GT)n CFMDB_994 protEffect p.Glu407Val CFMDB_994 commonName E407V CFMDB_1716 protEffect p.Glu407AlafsX4 CFMDB_1703 protEffect p.Phe409LeufsX33 CFMDB_752 protEffect p.Ala412GlnfsX30 CFMDB_752 commonName 1366delG CFMDB_1149 protEffect p.Ala412GlufsX30 CFMDB_1149 commonName 1367delC CFMDB_985 protEffect p.Asn415X CFMDB_985 commonName 1367del5 CFMDB_216 protEffect p.Gln414X CFMDB_216 commonName Q414X CFMDB_1538 protEffect p.Asn416Ser CFMDB_1538 commonName N416S CFMDB_217 protEffect p.Asn418Ser CFMDB_217 commonName N418S CFMDB_1795 protEffect p.Thr421Ala CFMDB_1087 protEffect p.Gly424Ser CFMDB_1087 commonName G424S CFMDB_1546 protEffect p.Ser431Gly CFMDB_1546 commonName S431G CFMDB_813 protEffect p.Ser434X CFMDB_813 commonName S434X CFMDB_1766 protEffect p.Gly437Val CFMDB_1924 protEffect p.Thr438Ala CFMDB_1501 protEffect p.Pro439Ser CFMDB_1501 commonName P439S CFMDB_1760 protEffect p.Leu441Pro CFMDB_1750 protEffect p.Lys442X CFMDB_218 protEffect p.Asp443Tyr CFMDB_218 commonName D443Y CFMDB_219 protEffect p.Ile444X CFMDB_219 commonName 1460delAT CFMDB_1568 commonName 1461 T/C CFMDB_220 protEffect p.Ile444ArgfsX3 CFMDB_220 commonName 1461ins4 CFMDB_1638 protEffect p.Ile444Thr CFMDB_1638 commonName I444T CFMDB_995 protEffect p.Ile444Ser CFMDB_995 commonName I444S CFMDB_1031 protEffect p.Lys447ArgfsX2 CFMDB_1031 commonName 1471delA CFMDB_1896 protEffect p.Ile448Arg CFMDB_1797 protEffect p.Gln452SerfsX30 CFMDB_841 protEffect p.Gln452Pro CFMDB_841 commonName Q452P CFMDB_221 protEffect p.Leu454del CFMDB_221 commonName [delta]L453 CFMDB_222 protEffect p.Ala455Glu CFMDB_222 commonName A455E CFMDB_1266 protEffect p.Val456CysfsX25 CFMDB_1266 commonName 1497delGG CFMDB_223 protEffect p.Val456Phe CFMDB_223 commonName V456F CFMDB_1184 protEffect p.Val456Ala CFMDB_1184 commonName V456A CFMDB_224 protEffect p.Gly458AspfsX11 CFMDB_224 commonName 1504delG CFMDB_225 protEffect p.Gly458Val CFMDB_225 commonName G458V CFMDB_1739 protEffect p.Gly463Val CFMDB_1851 protEffect p.Gly463Val CFMDB_1851 commonName G463V CFMDB_226 commonName 1524+ 6insC CFMDB_1373 protEffect p.Lys464Asn CFMDB_1373 commonName K464N CFMDB_1565 commonName 1524+ 68 G/A CFMDB_1211 commonName 1524+ 1G- >A CFMDB_1566 commonName 1524+ 60 insA CFMDB_227 commonName 1525- 1G- >A CFMDB_830 commonName 1525- 18G/A CFMDB_920 commonName 1525- 61A/G CFMDB_1656 commonName 1525- 47T- >G CFMDB_1510 commonName 1525- 42G>A CFMDB_921 commonName 1525- 60G/A CFMDB_1304 commonName 1525- 2A- >G CFMDB_229 protEffect p.Ser466X CFMDB_229 commonName S466X(TAG) CFMDB_228 protEffect p.Ser466Leu CFMDB_228 commonName S466L CFMDB_230 protEffect p.Ser466X CFMDB_230 commonName S466X(TAA) CFMDB_751 protEffect p.Leu467Phe CFMDB_751 commonName 1531C/T (L467F) CFMDB_1682 protEffect p.Leu468Pro CFMDB_1682 commonName L468P CFMDB_1349 protEffect p.Met469Val CFMDB_1349 commonName M469V CFMDB_1019 protEffect p.Met470Val CFMDB_1019 commonName M470V CFMDB_978 protEffect p.Met470GlufsX54 CFMDB_978 commonName 1540del10 CFMDB_1968 protEffect p.Ile471Val CFMDB_692 protEffect p.Gly473GlufsX54 CFMDB_692 commonName 1548delG CFMDB_1189 protEffect p.Glu474Lys CFMDB_1189 commonName E474K CFMDB_1785 protEffect p.Pro477Ser CFMDB_1574 protEffect p.Ser478X CFMDB_1574 commonName 1565 del CA CFMDB_1633 protEffect p.Glu479X CFMDB_1633 commonName E479X CFMDB_1983 protEffect p.Glu479Asp CFMDB_231 protEffect p.Gly480Cys CFMDB_231 commonName G480C CFMDB_1210 protEffect p.Gly480Ser CFMDB_1210 commonName G480S CFMDB_232 protEffect p.Gly480Asp CFMDB_232 commonName G480D CFMDB_233 protEffect p.Gly480ValfsX47 CFMDB_233 commonName 1571delG CFMDB_1020 commonName 1572T/C CFMDB_1164 protEffect p.Lys483X CFMDB_1164 commonName 1576insT CFMDB_723 protEffect p.His484Tyr CFMDB_723 commonName H484Y CFMDB_966 protEffect p.His484Arg CFMDB_966 commonName H484R CFMDB_1047 protEffect p.Ser485Cys CFMDB_1047 commonName S485C CFMDB_1871 protEffect p.Ser485Thr CFMDB_1871 commonName S485T CFMDB_234 protEffect p.Gly486X CFMDB_234 commonName G486X CFMDB_235 protEffect p.Ser489X CFMDB_235 commonName S489X CFMDB_660 protEffect p.Phe490LeufsX13 CFMDB_660 commonName 1601delTC CFMDB_1926 protEffect p.Phe490Serfs*37 CFMDB_722 protEffect p.Cys491Arg CFMDB_722 commonName C491R CFMDB_1909 protEffect p.Cys491Ser CFMDB_2006 protEffect p.Cys491Phe CFMDB_236 protEffect p.Ser492Phe CFMDB_236 commonName S492F CFMDB_238 protEffect p.Gln493ValfsX10 CFMDB_238 commonName 1609delCA CFMDB_237 protEffect p.Gln493X CFMDB_237 commonName Q493X CFMDB_1256 protEffect p.Gln493Pro CFMDB_1256 commonName Q493P CFMDB_239 protEffect p.Gln493Arg CFMDB_239 commonName Q493R CFMDB_240 protEffect p.Ser495LeufsX8 CFMDB_240 commonName 1612delTT CFMDB_1912 protEffect p.Ser495Tyr CFMDB_241 protEffect p.Trp496X CFMDB_241 commonName W496X CFMDB_1326 protEffect p.Ile497Val CFMDB_1326 commonName I497V CFMDB_1486 protEffect p.Met498Ile CFMDB_1486 commonName M498I CFMDB_661 protEffect p.Pro499Ala CFMDB_661 commonName P499A CFMDB_982 protEffect p.Thr501Ala CFMDB_982 commonName T501A CFMDB_726 protEffect p.Ile502Thr CFMDB_726 commonName I502T CFMDB_1223 protEffect p.Ile502Asn CFMDB_1223 commonName I502N CFMDB_724 protEffect p.Glu504X CFMDB_724 commonName E504X CFMDB_242 protEffect p.Glu504Gln CFMDB_242 commonName E504Q CFMDB_245 protEffect p.Ile507del CFMDB_245 commonName [delta]I507 CFMDB_1021 protEffect p.Ile506Val CFMDB_1021 commonName I506V (1648A/G) CFMDB_851 protEffect p.Ile506Leu CFMDB_851 commonName I506L CFMDB_243 protEffect p.Ile506Ser CFMDB_243 commonName I506S CFMDB_244 protEffect p.Ile506Thr CFMDB_244 commonName I506T CFMDB_869 protEffect p.Ile506Met CFMDB_869 commonName 1650C/G CFMDB_1023 protEffect p.Ile507Val CFMDB_1023 commonName 1651A/G CFMDB_1919 protEffect p.Ile507Met CFMDB_246 protEffect p.Phe508del CFMDB_246 commonName [delta]F508 CFMDB_1024 protEffect p.Phe508Cys CFMDB_1024 commonName F508C CFMDB_1138 protEffect p.Phe508Ser CFMDB_1138 commonName F508S CFMDB_1610 protEffect p.Val510PhefsX17 CFMDB_1610 commonName 1660delG CFMDB_1888 protEffect p.Ser511Cys CFMDB_818 protEffect p.Asp513Gly CFMDB_818 commonName D513G CFMDB_1258 protEffect p.Tyr515His CFMDB_1258 commonName Y515H CFMDB_247 protEffect p.Tyr515X CFMDB_247 commonName 1677delTA CFMDB_1268 protEffect p.Arg516Gly CFMDB_1268 commonName R516G CFMDB_760 protEffect p.Tyr517Cys CFMDB_760 commonName Y517C CFMDB_1226 protEffect p.Ser519Gly CFMDB_1226 commonName S519G CFMDB_249 protEffect p.Val520Ile CFMDB_249 commonName V520I CFMDB_248 protEffect p.Val520Phe CFMDB_248 commonName V520F CFMDB_1206 protEffect p.Ile521Leu CFMDB_1206 commonName 1693A- >C CFMDB_1907 protEffect p.Ile521Phe CFMDB_1810 protEffect p.Ala523Ser CFMDB_250 protEffect p.Cys524X CFMDB_250 commonName C524X CFMDB_251 protEffect p.Gln525X CFMDB_251 commonName Q525X CFMDB_252 protEffect p.Gln525LeufsX37 CFMDB_252 commonName 1706del17 CFMDB_817 protEffect p.Glu527Gln CFMDB_817 commonName E527Q CFMDB_964 protEffect p.Glu527Gly CFMDB_964 commonName E527G CFMDB_1025 commonName 1713A/G CFMDB_1653 protEffect p.Glu528Lys CFMDB_1653 commonName E528K CFMDB_662 commonName 1716+ 2T- >C CFMDB_922 commonName 1716+ 12T/C CFMDB_748 commonName 1716+ 64A/C CFMDB_598 commonName 1716+ 85C/T CFMDB_1026 commonName 1716G/A CFMDB_1190 protEffect p.Glu528Asp CFMDB_1190 commonName E528D CFMDB_923 commonName 1716+ 13G/T CFMDB_613 commonName 1716+ 77A/G CFMDB_1590 commonName 1716+ 1G- >T CFMDB_1591 commonName 1716+ 4 A- >T CFMDB_641 commonName 1716+ 1G- >A CFMDB_924 commonName dup1716+ 51- >61 CFMDB_896 commonName 1716+ 63ins11nt CFMDB_925 commonName 1717- 19T/C CFMDB_1139 protEffect p.Asp529His CFMDB_1139 commonName D529H CFMDB_255 commonName 1717- 1G- >A CFMDB_253 commonName 1717- 8G- >A CFMDB_254 commonName 1717- 2A- >G CFMDB_663 commonName 1717- 3T- >G CFMDB_1022 commonName 1717- 9T- >A CFMDB_1642 protEffect p.Asp529Gly CFMDB_1642 commonName D529G CFMDB_1724 protEffect p.Ile530Leu CFMDB_1993 protEffect p.Phe533Leu CFMDB_2007 protEffect p.Phe533Val CFMDB_256 protEffect p.Ala534Glu CFMDB_256 commonName A534E CFMDB_1497 protEffect p.Lys536X CFMDB_1497 commonName K536X CFMDB_1861 protEffect p.Lys536Glu CFMDB_1861 commonName K536E CFMDB_831 protEffect p.Asp537GlufsX30 CFMDB_831 commonName 1742delAC CFMDB_1291 protEffect p.Asp537Glu CFMDB_1291 commonName D537E CFMDB_257 protEffect p.Ile539Thr CFMDB_257 commonName I539T CFMDB_1128 protEffect p.Val540X CFMDB_1128 commonName 1749insTA CFMDB_1880 protEffect p.Leu541Pro CFMDB_258 protEffect p.Gly542X CFMDB_258 commonName G542X CFMDB_1852 protEffect p.Gly542Glu CFMDB_1852 commonName G542E CFMDB_259 protEffect p.Gly544Ser CFMDB_259 commonName G544S CFMDB_603 protEffect p.Gly544Val CFMDB_603 commonName G544V CFMDB_1150 commonName 1764T/G CFMDB_1284 protEffect p.Ile546_Thr547del CFMDB_1284 commonName 1767del6 CFMDB_1027 commonName 1773A/T CFMDB_260 protEffect p.Leu548GlufsX19 CFMDB_260 commonName 1774delCT CFMDB_1375 protEffect p.Leu548Gln CFMDB_1375 commonName L548Q CFMDB_261 protEffect p.Ser549Arg CFMDB_261 commonName S549R(A- >C) CFMDB_1780 protEffect p.Ser549GlufsX9 CFMDB_262 protEffect p.Ser549Asn CFMDB_262 commonName S549N CFMDB_263 protEffect p.Ser549Ile CFMDB_263 commonName S549I CFMDB_264 protEffect p.Ser549Arg CFMDB_264 commonName S549R(T- >G) CFMDB_265 protEffect p.Gly550Arg CFMDB_265 commonName G550R CFMDB_266 protEffect p.Gly550X CFMDB_266 commonName G550X CFMDB_267 protEffect p.Gly551ValfsX8 CFMDB_267 commonName 1782delA CFMDB_268 protEffect p.Gly551Ser CFMDB_268 commonName G551S CFMDB_269 protEffect p.Gly551Asp CFMDB_269 commonName G551D CFMDB_270 protEffect p.Gly551ValfsX8 CFMDB_270 commonName 1784delG CFMDB_596 protEffect p.Gln552Lys CFMDB_596 commonName Q552K CFMDB_271 protEffect p.Gln552X CFMDB_271 commonName Q552X CFMDB_1043 protEffect p.Gln552HisfsX7 CFMDB_1043 commonName 1787delA CFMDB_272 protEffect p.Arg553Gly CFMDB_272 commonName R553G CFMDB_273 protEffect p.Arg553X CFMDB_273 commonName R553X CFMDB_274 protEffect p.Arg553Gln CFMDB_274 commonName R553Q CFMDB_1726 protEffect p.Ala554AspfsX14 CFMDB_991 protEffect p.Arg555Gly CFMDB_991 commonName R555G CFMDB_275 protEffect p.Ile556Val CFMDB_275 commonName I556V CFMDB_664 protEffect p.Ser557PhefsX2 CFMDB_664 commonName 1802delC CFMDB_1829 commonName 1811+ 1643G>T CFMDB_276 protEffect p.Leu558Ser CFMDB_276 commonName L558S CFMDB_277 protEffect p.Ala559GlnfsX13 CFMDB_277 commonName 1806delA CFMDB_278 protEffect p.Ala559Thr CFMDB_278 commonName A559T CFMDB_1191 protEffect p.Ala559Glu CFMDB_1191 commonName A559E CFMDB_1592 protEffect p.Ala559Val CFMDB_1592 commonName A559V CFMDB_1274 protEffect p.Arg560Gly CFMDB_1274 commonName R560G CFMDB_281 commonName 1811+ 1G- >C CFMDB_1519 commonName 1811+ 16T- >C CFMDB_280 protEffect p.Arg560Thr CFMDB_280 commonName R560T CFMDB_279 protEffect p.Arg560Lys CFMDB_279 commonName R560K CFMDB_282 commonName 1811+ 18G- >A CFMDB_1505 commonName 1811 + 1 G>A CFMDB_1660 commonName 1811+ 24G- >A CFMDB_1388 commonName 1811+ 34 G>A CFMDB_1532 commonName 1811 + 1650 T>A CFMDB_1608 commonName 1811+ 5A- >G CFMDB_1287 commonName 1811+ 11A- >G CFMDB_639 commonName 1812- 136T/C CFMDB_926 commonName 1812- 108T/C CFMDB_1646 commonName 1812- 99 T- >C CFMDB_1363 commonName 1812- 26T- >C CFMDB_284 commonName 1812- 1G- >A CFMDB_1575 commonName 1812- 5 T- >A CFMDB_1088 commonName 1812- 59T/G CFMDB_285 protEffect p.Arg560Ser CFMDB_285 commonName R560S CFMDB_730 protEffect p.Val562SerfsX6 CFMDB_730 commonName 1813insC CFMDB_286 protEffect p.Ala561Glu CFMDB_286 commonName A561E CFMDB_288 protEffect p.Val562Leu CFMDB_288 commonName V562L CFMDB_287 protEffect p.Val562Ile CFMDB_287 commonName V562I CFMDB_289 protEffect p.Tyr563Asp CFMDB_289 commonName Y563D CFMDB_290 protEffect p.Tyr563Asn CFMDB_290 commonName Y563N CFMDB_1933 protEffect p.Tyr563His CFMDB_291 protEffect p.Tyr563Cys CFMDB_291 commonName Y563C CFMDB_1813 protEffect p.Lys564Glu CFMDB_1831 protEffect p.Asp565MetfsX7 CFMDB_1831 commonName 1824delA CFMDB_1267 protEffect p.Asp565Gly CFMDB_1267 commonName D565G CFMDB_1338 protEffect p.Ala566Thr CFMDB_1338 commonName A566T CFMDB_1899 protEffect p.Asp567Gly CFMDB_292 protEffect p.Leu568CysfsX4 CFMDB_292 commonName 1833delT CFMDB_293 protEffect p.Leu568X CFMDB_293 commonName L568X CFMDB_627 protEffect p.Leu568Phe CFMDB_627 commonName L568F CFMDB_295 protEffect p.Tyr569His CFMDB_295 commonName Y569H CFMDB_294 protEffect p.Tyr569Asp CFMDB_294 commonName Y569D CFMDB_296 protEffect p.Tyr569Cys CFMDB_296 commonName Y569C CFMDB_297 protEffect p.Tyr569X CFMDB_297 commonName Y569X CFMDB_298 protEffect p.Leu571Ser CFMDB_298 commonName L571S CFMDB_1096 protEffect p.Asp572LeufsX16 CFMDB_1096 commonName 1845delAG/1846delGA CFMDB_299 protEffect p.Asp572Asn CFMDB_299 commonName D572N CFMDB_1721 protEffect p.Asp572His CFMDB_1499 protEffect p.Ser573Cys CFMDB_1499 commonName S573C CFMDB_1492 protEffect p.Pro574Ser CFMDB_1492 commonName P574S CFMDB_300 protEffect p.Pro574His CFMDB_300 commonName P574H CFMDB_301 protEffect p.Gly576X CFMDB_301 commonName G576X CFMDB_590 protEffect p.Gly576Ala CFMDB_590 commonName G576A CFMDB_302 protEffect p.Tyr577Phe CFMDB_302 commonName Y577F CFMDB_755 commonName Y577Y (1863C/T) CFMDB_1804 protEffect p.Tyr577X CFMDB_303 protEffect p.Asp579Tyr CFMDB_303 commonName D579Y CFMDB_304 protEffect p.Asp579Gly CFMDB_304 commonName D579G CFMDB_210 protEffect p.Asp579Ala CFMDB_210 commonName D579A CFMDB_1175 protEffect p.Val580PhefsX2 CFMDB_1175 commonName 1870delG CFMDB_305 protEffect p.Leu581PhefsX8 CFMDB_305 commonName 1874insT CFMDB_1292 protEffect p.Thr582Ser CFMDB_1292 commonName T582S CFMDB_306 protEffect p.Thr582Ile CFMDB_306 commonName T582I CFMDB_307 protEffect p.Thr582Arg CFMDB_307 commonName T582R CFMDB_308 protEffect p.Glu585X CFMDB_308 commonName E585X CFMDB_1578 protEffect p.Ile586Val CFMDB_1578 commonName I586V CFMDB_1394 protEffect p.Phe587Ile CFMDB_1394 commonName F587I CFMDB_1471 protEffect p.Glu588Val CFMDB_1471 commonName E588V CFMDB_311 commonName 1898+ 1G- >C CFMDB_312 commonName 1898+ 3A- >C CFMDB_740 commonName 1898+ 5G- >A CFMDB_665 protEffect p.Ser589Asn CFMDB_665 commonName S589N CFMDB_1059 protEffect p.Ser589Ile CFMDB_1059 commonName S589I CFMDB_927 commonName 1898+ 152T/A CFMDB_309 commonName 1898+ 1G- >A CFMDB_310 commonName 1898+ 1G- >T CFMDB_1046 commonName 1898+ 30G/A CFMDB_313 commonName 1898+ 3A- >G CFMDB_314 commonName 1898+ 5G- >T CFMDB_315 commonName 1898+ 73T- >G CFMDB_1643 protEffect p.Leu594Pro CFMDB_1643 commonName L594P CFMDB_1905 protEffect p.Met595Val CFMDB_1493 protEffect p.Met595Thr CFMDB_1493 commonName M595T CFMDB_1632 protEffect p.Met595Ile CFMDB_1632 commonName M595I CFMDB_316 protEffect p.Ala596X CFMDB_316 commonName 1918delGC CFMDB_1618 protEffect p.Lys598X CFMDB_1618 commonName K598X CFMDB_317 protEffect p.Lys598GlyfsX11 CFMDB_317 commonName 1924del7 CFMDB_1151 commonName T599T (1929T/A) CFMDB_753 protEffect p.Arg600Gly CFMDB_753 commonName R600G CFMDB_1593 protEffect p.Ile601PhefsX10 CFMDB_1593 commonName 1932delG CFMDB_666 protEffect p.Ile601Phe CFMDB_666 commonName I601F CFMDB_1949 protEffect p.Ile601Val CFMDB_852 protEffect p.Val603Phe CFMDB_852 commonName V603F CFMDB_1192 protEffect p.Thr604Ile CFMDB_1192 commonName T604I CFMDB_1502 protEffect p.Thr604Ser CFMDB_1502 commonName T604S CFMDB_1830 commonName 1812- 13A>G CFMDB_1257 protEffect p.Glu608Gly CFMDB_1257 commonName E608G CFMDB_1536 protEffect p.His609Leu CFMDB_1536 commonName H609L CFMDB_754 protEffect p.His609Arg CFMDB_754 commonName H609R CFMDB_319 protEffect p.Leu610Ser CFMDB_319 commonName L610S CFMDB_667 protEffect p.Ala613Thr CFMDB_667 commonName A613T CFMDB_1193 protEffect p.Asp614Tyr CFMDB_1193 commonName D614Y CFMDB_320 protEffect p.Asp614Gly CFMDB_320 commonName D614G CFMDB_321 protEffect p.Ile618Thr CFMDB_321 commonName I618T CFMDB_322 protEffect p.Leu619Ser CFMDB_322 commonName L619S CFMDB_323 protEffect p.His620Pro CFMDB_323 commonName H620P CFMDB_668 protEffect p.His620Gln CFMDB_668 commonName H620Q CFMDB_669 protEffect p.Gly622Asp CFMDB_669 commonName G622D CFMDB_1689 protEffect p.Ser624IlefsX15 CFMDB_1689 commonName 2003del8 CFMDB_325 protEffect p.Gly628Arg CFMDB_325 commonName G628R(G- >C) CFMDB_324 protEffect p.Gly628Arg CFMDB_324 commonName G628R(G- >A) CFMDB_1520 protEffect p.Leu633Ile CFMDB_1520 commonName L633I CFMDB_326 protEffect p.Leu633Pro CFMDB_326 commonName L633P CFMDB_637 protEffect p.Gln634X CFMDB_637 commonName Q634X CFMDB_962 protEffect p.Leu636Pro CFMDB_962 commonName L636P CFMDB_1044 protEffect p.Gln637X CFMDB_1044 commonName Q637X CFMDB_327 protEffect p.Gln637HisfsX26 CFMDB_327 commonName 2043delG CFMDB_1270 protEffect p.Asp639Tyr CFMDB_1270 commonName D639Y CFMDB_969 protEffect p.Phe640X CFMDB_969 commonName 2051delTT CFMDB_1737 protEffect p.Phe640Phe CFMDB_1889 protEffect p.Ser641IlefsX23 CFMDB_328 protEffect p.Ser641ArgfsX5 CFMDB_328 commonName 2055del9- >A CFMDB_824 commonName 2064C/G CFMDB_981 commonName 2082C/T CFMDB_1259 protEffect p.Asp651His CFMDB_1259 commonName D651H CFMDB_961 protEffect p.Asp651Asn CFMDB_961 commonName D651N CFMDB_1030 protEffect p.Ser654Gly CFMDB_1030 commonName 2092A/G CFMDB_761 protEffect p.Glu656X CFMDB_761 commonName E656X CFMDB_1194 protEffect p.Arg658LysfsX7 CFMDB_1194 commonName 2104insA+ 2109- 2118del10 CFMDB_1283 protEffect p.Arg658LysfsX4 CFMDB_1283 commonName 2105- 2117del13insAGAAA CFMDB_1056 protEffect p.Asn659IlefsX4 CFMDB_1056 commonName 2108delA CFMDB_1544 protEffect p.Ser660Thr CFMDB_1544 commonName S660T CFMDB_330 protEffect p.Ile661SerfsX2 CFMDB_330 commonName 2113delA CFMDB_1093 protEffect p.Thr663ArgfsX8 CFMDB_1093 commonName 2116delCTAA CFMDB_331 protEffect p.Thr663ArgfsX8 CFMDB_331 commonName 2118del4 CFMDB_332 protEffect p.Glu664X CFMDB_332 commonName E664X CFMDB_333 protEffect p.Thr665Ser CFMDB_333 commonName T665S CFMDB_764 protEffect p.Arg668Cys CFMDB_764 commonName R668C CFMDB_334 protEffect p.Leu671IlefsX18 CFMDB_334 commonName 2141insA CFMDB_335 protEffect p.Leu671X CFMDB_335 commonName 2143delT CFMDB_714 protEffect p.Glu672del CFMDB_714 commonName E672del CFMDB_336 protEffect p.Gly673X CFMDB_336 commonName G673X CFMDB_1534 protEffect p.Asp674Val CFMDB_1534 commonName D674V CFMDB_1066 protEffect p.Trp679X CFMDB_1066 commonName W679X CFMDB_337 protEffect p.Gln685ThrfsX4 CFMDB_337 commonName 2176insC CFMDB_1718 protEffect p.Thr682GlnfsX40 CFMDB_1102 protEffect p.Lys683Arg CFMDB_1102 commonName K683R CFMDB_758 protEffect p.Lys684ThrfsX4 CFMDB_758 commonName 2183delAA CFMDB_338 protEffect p.Lys684SerfsX38 CFMDB_338 commonName 2183AA- >G CFMDB_1437 commonName 2184A/G CFMDB_340 protEffect p.Gln685ThrfsX4 CFMDB_340 commonName 2184insA CFMDB_339 protEffect p.Lys684AsnfsX38 CFMDB_339 commonName 2184delA CFMDB_1060 protEffect p.Gln685ProfsX4 CFMDB_1060 commonName 2185insC CFMDB_341 protEffect p.Gln685X CFMDB_341 commonName Q685X CFMDB_1526 protEffect p.Ser686Tyr CFMDB_1526 commonName S686Y CFMDB_1396 protEffect p.Lys688PhefsX? CFMDB_1396 commonName 2193ins4 CFMDB_1609 protEffect p.Lys688X CFMDB_1609 commonName K688X CFMDB_1339 protEffect p.Gln689X CFMDB_1339 commonName Q689X CFMDB_342 protEffect p.Glu692X CFMDB_342 commonName E692X CFMDB_343 protEffect p.Phe693Leu CFMDB_343 commonName F693L(CTT) CFMDB_1209 protEffect p.Phe693Leu CFMDB_1209 commonName F693L(TTG) CFMDB_1180 protEffect p.Glu695GlyfsX35 CFMDB_1180 commonName 2215insG CFMDB_1733 protEffect p.Lys696Arg CFMDB_1594 protEffect p.Arg697LysfsX33 CFMDB_1594 commonName 2221insA CFMDB_766 commonName 2238C/G CFMDB_344 protEffect p.Arg709X CFMDB_344 commonName R709X CFMDB_1285 protEffect p.Arg709Gln CFMDB_1285 commonName R709Q CFMDB_345 protEffect p.Lys710X CFMDB_345 commonName K710X CFMDB_1305 protEffect p.Ser712Cys CFMDB_1305 commonName S712C CFMDB_1661 protEffect p.Gln715X CFMDB_1661 commonName Q715X CFMDB_346 protEffect p.Lys716X CFMDB_346 commonName K716X CFMDB_347 protEffect p.Leu719X CFMDB_347 commonName L719X CFMDB_1333 protEffect p.Gln720MetfsX11 CFMDB_1333 commonName 2289- 2295del7bpinsGT CFMDB_1048 protEffect p.Gln720X CFMDB_1048 commonName Q720X CFMDB_1306 protEffect p.Gly723Val CFMDB_1306 commonName G723V CFMDB_799 protEffect p.Glu725Lys CFMDB_799 commonName E725K CFMDB_348 protEffect p.Glu726ArgfsX4 CFMDB_348 commonName 2307insA CFMDB_349 protEffect p.Glu730X CFMDB_349 commonName E730X CFMDB_350 protEffect p.Leu732X CFMDB_350 commonName L732X CFMDB_1153 protEffect p.Arg735GlyfsX4 CFMDB_1153 commonName 2335delA CFMDB_1222 protEffect p.Arg735Lys CFMDB_1222 commonName R735K CFMDB_1391 protEffect p.Ser737Phe CFMDB_1391 commonName S737F CFMDB_1393 protEffect p.Ser737Phe CFMDB_1393 commonName S737F CFMDB_351 protEffect p.Val739TyrfsX16 CFMDB_351 commonName 2347delG CFMDB_1461 protEffect p.Gly745X CFMDB_1461 commonName G745X(Gly745X) CFMDB_352 protEffect p.Ile748SerfsX28 CFMDB_352 commonName 2372del8 CFMDB_715 commonName 2377C/T CFMDB_1648 protEffect p.Pro750GlnfsX26 CFMDB_1648 commonName 2380_2387del CFMDB_1103 protEffect p.Pro750Leu CFMDB_1103 commonName P750L CFMDB_1870 protEffect p.Arg751Cys CFMDB_1870 commonName R751C CFMDB_1307 protEffect p.Arg751Pro CFMDB_1307 commonName R751P CFMDB_1987 protEffect p.Arg751Leu CFMDB_1425 protEffect p.Ile752Ser CFMDB_1425 commonName I752S CFMDB_1649 protEffect No Changes CFMDB_1649 commonName 2391 C/T CFMDB_1657 protEffect p.Ser753Arg CFMDB_1657 commonName S753R CFMDB_1755 protEffect p.Ser753Arg CFMDB_610 protEffect p.Val754Met CFMDB_610 commonName V754M CFMDB_1621 protEffect p.Pro759HisfsX19 CFMDB_1621 commonName 2406delCC CFMDB_1691 protEffect p.Thr760ArgfsX11 CFMDB_1691 commonName 2409delC CFMDB_1049 protEffect p.Thr760Met CFMDB_1049 commonName T760M CFMDB_1617 commonName 2412G/A CFMDB_1390 protEffect p.Gln762His CFMDB_1390 commonName 2418GG>T CFMDB_353 protEffect p.Arg764X CFMDB_353 commonName R764X CFMDB_354 protEffect p.Arg764GlnfsX7 CFMDB_354 commonName 2423delG CFMDB_1736 protEffect p.Arg765Ser CFMDB_355 protEffect p.Arg766Met CFMDB_355 commonName R766M CFMDB_1207 protEffect p.His775LeufsX3 CFMDB_1207 commonName 2456delAC CFMDB_757 protEffect p.Ser776X CFMDB_757 commonName S776X CFMDB_745 protEffect p.Gln781X CFMDB_745 commonName Q781X CFMDB_1195 protEffect p.Asn782Lys CFMDB_1195 commonName N782K CFMDB_356 protEffect p.Arg785X CFMDB_356 commonName R785X CFMDB_1208 protEffect p.Thr788fsX? CFMDB_1208 commonName 2493ins8 CFMDB_1581 protEffect p.Thr788Ile CFMDB_1581 commonName T788I CFMDB_358 protEffect p.Arg792Gly CFMDB_358 commonName R792G CFMDB_357 protEffect p.Arg792X CFMDB_357 commonName R792X CFMDB_1697 protEffect p.Val794CysfsX9 CFMDB_1697 commonName 2512delG CFMDB_359 protEffect p.Gln799SerfsX6 CFMDB_359 commonName 2522insC CFMDB_1868 protEffect p.Pro798Ser CFMDB_1868 commonName P798S CFMDB_360 protEffect p.Ala800Gly CFMDB_360 commonName A800G CFMDB_1585 protEffect p.Asp806Gly CFMDB_1585 commonName D806G CFMDB_1579 protEffect p.Ile807Val CFMDB_1579 commonName I807V CFMDB_866 protEffect p.Ile807Met CFMDB_866 commonName I807M CFMDB_767 protEffect p.Ile807Met CFMDB_767 commonName 2553A/G CFMDB_361 protEffect p.Ser809IlefsX13 CFMDB_361 commonName 2556insAT CFMDB_1221 protEffect p.Arg810Gly CFMDB_1221 commonName R810G CFMDB_1742 protEffect p.Leu812TyrfsX10 CFMDB_362 protEffect p.Leu812PhefsX11 CFMDB_362 commonName 2566insT CFMDB_1265 protEffect p.Ser813Pro CFMDB_1265 commonName S813P CFMDB_1670 protEffect p.Gln814X CFMDB_1670 commonName Q814X CFMDB_1908 protEffect p.Gly817Val CFMDB_1504 protEffect p.Leu818TrpfsX3 CFMDB_1504 commonName 2585delT CFMDB_1791 protEffect p.Ser821ArgfsX4 CFMDB_363 protEffect p.Glu822Lys CFMDB_363 commonName E822K CFMDB_364 protEffect p.Glu822X CFMDB_364 commonName E822X CFMDB_800 protEffect p.Glu823X CFMDB_800 commonName E823X CFMDB_365 protEffect p.Asn825ThrfsX5 CFMDB_365 commonName 2603delT CFMDB_366 protEffect p.Glu826Lys CFMDB_366 commonName E826K CFMDB_367 protEffect p.Glu827X CFMDB_367 commonName E827X CFMDB_1308 protEffect p.Asp828Gly CFMDB_1308 commonName D828G CFMDB_1152 commonName L829L (2619A/G) CFMDB_368 protEffect p.Lys830X CFMDB_368 commonName K830X CFMDB_1426 commonName 2622+ 2T>C CFMDB_849 commonName 2622+ 2del6 CFMDB_369 commonName 2622+ 1G- >A CFMDB_1196 commonName 2622+ 1G- >T CFMDB_811 commonName 2622+ 14G/A CFMDB_1595 commonName 2623- 11 C- >T CFMDB_1309 commonName 2623- 2A- >G CFMDB_370 protEffect p.Glu831X CFMDB_370 commonName E831X CFMDB_1612 commonName 2623- 23A- >G CFMDB_837 protEffect p.Asp835X CFMDB_837 commonName 2634insT CFMDB_1775 protEffect p.Phe834Leu CFMDB_1637 protEffect p.Phe834LeufsX10 CFMDB_1637 commonName 2634delT CFMDB_371 protEffect p.Asp836Tyr CFMDB_371 commonName D836Y CFMDB_879 protEffect p.Asp836GlufsX8 CFMDB_879 commonName 2640delT CFMDB_1541 protEffect p.Ile840Thr CFMDB_1541 commonName I840T CFMDB_1253 protEffect p.Pro841Arg CFMDB_1253 commonName P841R CFMDB_372 protEffect p.Trp846X CFMDB_372 commonName W846X CFMDB_373 protEffect p.Trp846X CFMDB_373 commonName W846X (2670TGG>TGA) CFMDB_1057 protEffect p.Tyr849X CFMDB_1057 commonName Y849X CFMDB_374 protEffect p.Arg851X CFMDB_374 commonName R851X CFMDB_670 protEffect p.Arg851Leu CFMDB_670 commonName R851L CFMDB_1696 protEffect p.Tyr852X CFMDB_1696 commonName Y852X CFMDB_768 commonName 2691T/C CFMDB_1114 commonName 2694T/C CFMDB_769 commonName 2694T/G CFMDB_1181 protEffect p.Val855SerfsX5 CFMDB_1181 commonName 2694delT CFMDB_954 protEffect p.Val855Ile CFMDB_954 commonName V855I CFMDB_1798 protEffect p.His856LeufsX40 CFMDB_759 commonName 2703G/A CFMDB_375 protEffect p.Phe861LeufsX3 CFMDB_375 commonName 2711delT CFMDB_1857 protEffect p.Ile860Thr CFMDB_1857 commonName I860T CFMDB_376 protEffect p.Ile864SerfsX28 CFMDB_376 commonName 2721del11 CFMDB_701 protEffect p.Ile864MetfsX31 CFMDB_701 commonName 2723delTT CFMDB_1436 protEffect p.Cys866Gly CFMDB_1436 commonName C866R CFMDB_1444 protEffect p.Cys866Ser CFMDB_1444 commonName C866S CFMDB_377 protEffect p.Cys866Tyr CFMDB_377 commonName C866Y CFMDB_705 protEffect p.Leu867X CFMDB_705 commonName L867X CFMDB_1081 protEffect p.Val868SerfsX28 CFMDB_1081 commonName 2732insA CFMDB_378 protEffect p.Val868X CFMDB_378 commonName 2734G- >AT CFMDB_770 protEffect No Changes CFMDB_770 commonName 2736G/A CFMDB_1596 protEffect p.Ala872GlufsX34 CFMDB_1596 commonName 2747delC CFMDB_379 commonName 2751G- >A CFMDB_380 commonName 2751+ 3A- >G CFMDB_990 commonName IVS14a+ 17del5 CFMDB_671 commonName 2751+ 2T- >A CFMDB_1310 commonName 2752- 97C- >T CFMDB_929 commonName 2752- 15C/G CFMDB_1311 commonName 2752- 6T- >C CFMDB_1017 commonName 2752- 1G- >C CFMDB_1358 commonName 2752- 17G/A CFMDB_381 commonName 2752- 26A- >G CFMDB_382 commonName 2752- 1G- >T CFMDB_1677 commonName 2752- 2A>G CFMDB_928 commonName 2752- 22A/G CFMDB_1832 commonName 2752- 33insA CFMDB_1872 protEffect p.Ser877del CFMDB_1872 commonName S877del CFMDB_383 protEffect p.Leu878PhefsX15 CFMDB_383 commonName 2766del8 CFMDB_385 protEffect p.Trp882X CFMDB_385 commonName W882X CFMDB_1478 protEffect p.Asn886ThrfsX15 CFMDB_1478 commonName 2787del16 CFMDB_930 commonName 2789+ 32T/C CFMDB_835 commonName 2789+ 2insA CFMDB_386 commonName 2789+ 3delG CFMDB_387 commonName 2789+ 5G>A CFMDB_931 commonName 2790- 108G/C CFMDB_389 commonName 2790- 1G- >C CFMDB_390 commonName 2790- 1G- >T CFMDB_932 commonName 2790- 21G/A CFMDB_388 commonName 2790- 2A- >G CFMDB_391 protEffect p.Gln890X CFMDB_391 commonName Q890X CFMDB_973 protEffect p.Gln890Arg CFMDB_973 commonName Q890R CFMDB_886 protEffect p.Asp891Gly CFMDB_886 commonName D891G CFMDB_1620 commonName 2811G/T CFMDB_1154 protEffect p.Ser895Thr CFMDB_1154 commonName S895T CFMDB_1799 protEffect p.Thr896IlefsX3 CFMDB_1168 protEffect p.Thr896Ile CFMDB_1168 commonName T896I CFMDB_1392 protEffect p.Thr896IlefsX9 CFMDB_1392 commonName 2819del4bpins13bp CFMDB_1155 protEffect p.Asn900Thr CFMDB_1155 commonName N900T CFMDB_1970 protEffect p.Ser902ThrfsX4 CFMDB_1227 protEffect p.Ser902Arg CFMDB_1227 commonName S902R CFMDB_771 protEffect p.Tyr903His CFMDB_771 commonName 2839T/C CFMDB_976 commonName 2844A/T CFMDB_1095 protEffect p.Ile907Val CFMDB_1095 commonName 2851A/G CFMDB_706 protEffect p.Thr908Asn CFMDB_706 commonName T908N CFMDB_842 commonName 2856C/T CFMDB_772 protEffect p.Ser909Ile CFMDB_772 commonName 2858G/T CFMDB_1293 protEffect p.Ser911Arg CFMDB_1293 commonName S911R CFMDB_392 protEffect p.Ser912Leu CFMDB_392 commonName S912L CFMDB_393 protEffect p.Ser912X CFMDB_393 commonName S912X CFMDB_1564 commonName 2868 G/A CFMDB_394 protEffect p.Tyr913X CFMDB_394 commonName 2869insG CFMDB_395 protEffect p.Tyr913Cys CFMDB_395 commonName Y913C CFMDB_1500 protEffect p.Tyr913X CFMDB_1500 commonName Y913X CFMDB_1686 protEffect p.Tyr914Cys CFMDB_1686 commonName Y914C CFMDB_1772 protEffect p.Val915Leu CFMDB_615 protEffect p.Tyr917Asp CFMDB_615 commonName Y917D CFMDB_396 protEffect p.Tyr917Cys CFMDB_396 commonName Y917C CFMDB_1197 protEffect p.Ile918Met CFMDB_1197 commonName I918M CFMDB_397 protEffect p.Tyr919Cys CFMDB_397 commonName Y919C CFMDB_398 protEffect p.Val920Met CFMDB_398 commonName V920M CFMDB_1198 protEffect p.Val920Leu CFMDB_1198 commonName V920L CFMDB_1853 protEffect p.Gly921Glu CFMDB_1853 commonName G921E CFMDB_1360 protEffect p.Val922Leu CFMDB_1360 commonName V922L CFMDB_713 protEffect p.Val922GlufsX2 CFMDB_713 commonName 2896insAG CFMDB_773 commonName 2901C/T CFMDB_1199 protEffect p.Asp924Asn CFMDB_1199 commonName D924N CFMDB_1844 protEffect p.Asp924Tyr CFMDB_1844 commonName D924Y CFMDB_399 protEffect p.Leu926AlafsX48 CFMDB_399 commonName 2907delTT CFMDB_400 protEffect p.Leu926CysfsX16 CFMDB_400 commonName 2909delT CFMDB_1902 protEffect p.Leu926Phe CFMDB_401 protEffect p.Leu927Pro CFMDB_401 commonName L927P CFMDB_1971 protEffect p.Gly930AspfsX12 CFMDB_1156 protEffect p.Phe932Ser CFMDB_1156 commonName F932S CFMDB_1340 protEffect p.Arg933Gly CFMDB_1340 commonName R933G CFMDB_619 protEffect p.Arg933Ser CFMDB_619 commonName R933S CFMDB_1972 protEffect p.Leu935AlafsX36 CFMDB_1929 protEffect p.Leu941X CFMDB_1881 protEffect p.Pro936Thr CFMDB_1171 commonName 2940A/G CFMDB_1067 protEffect p.Val938GlyfsX37 CFMDB_1067 commonName 2942insT CFMDB_1443 protEffect p.Val938Leu CFMDB_1443 commonName V938L CFMDB_620 protEffect p.Val938Gly CFMDB_620 commonName V938G CFMDB_402 protEffect p.His939Asp CFMDB_402 commonName H939D CFMDB_1018 protEffect p.His439ProfsX CFMDB_1018 commonName 2948AT- >C CFMDB_707 protEffect p.His939Arg CFMDB_707 commonName H939R CFMDB_1913 protEffect p.Thr940Thr CFMDB_1833 protEffect p.Ile942ThrfsX26 CFMDB_1833 commonName 2957delT CFMDB_403 protEffect p.Ser945Leu CFMDB_403 commonName S945L CFMDB_622 commonName 2967G/A CFMDB_616 protEffect p.Lys946X CFMDB_616 commonName K946X CFMDB_404 protEffect p.His949Tyr CFMDB_404 commonName H949Y CFMDB_405 protEffect p.His949Arg CFMDB_405 commonName H949R CFMDB_1489 protEffect p.His949Leu CFMDB_1489 commonName H949L CFMDB_1058 protEffect p.Met952Thr CFMDB_1058 commonName M952T CFMDB_406 protEffect p.Met952Ile CFMDB_406 commonName M952I CFMDB_407 protEffect p.Leu953PhefsX11 CFMDB_407 commonName 2991del32 CFMDB_1767 protEffect p.His954Pro CFMDB_408 protEffect p.Ala959HisfsX9 CFMDB_408 commonName 3007delG CFMDB_1345 protEffect p.Ala959Val CFMDB_1345 commonName A959V CFMDB_1777 protEffect p.Ala959AspfsX9 CFMDB_1131 protEffect p.Met961Ile CFMDB_1131 commonName M961I CFMDB_617 protEffect p.Thr966ArgfsX2 CFMDB_617 commonName 3028delA CFMDB_774 commonName 3030G/A CFMDB_809 protEffect p.Leu967Ser CFMDB_809 commonName L967S CFMDB_643 commonName 3040+ 2T- >C CFMDB_1312 commonName 3040+ 23T- >C CFMDB_1635 commonName CFTR- dele 16- 17a- 17b CFMDB_409 protEffect p.Gly970Arg CFMDB_409 commonName G970R CFMDB_1619 protEffect p.Gly970Ser CFMDB_1619 commonName G970S CFMDB_1597 commonName 3040+ 11A/T CFMDB_934 commonName 3041- 71G/C CFMDB_935 commonName 3041- 52C/G CFMDB_1219 commonName 3041- 11del7 CFMDB_410 commonName 3041- 1G- >A CFMDB_1220 commonName 3041- 15T- >G CFMDB_1330 commonName 3041- 4A- >G CFMDB_1563 commonName 3041- 51 T/G CFMDB_933 commonName 3041- 92G/A CFMDB_734 protEffect p.Gly970Asp CFMDB_734 commonName G970D CFMDB_411 protEffect p.Gly970ValfsX11 CFMDB_411 commonName 3041delG CFMDB_672 protEffect p.Leu973Phe CFMDB_672 commonName L973F CFMDB_1141 protEffect p.Leu973Pro CFMDB_1141 commonName L973P CFMDB_1445 protEffect p.Leu973His CFMDB_1445 commonName L973H CFMDB_412 protEffect p.Arg975IlefsX10 CFMDB_412 commonName 3056delGA CFMDB_413 protEffect p.Ser977Pro CFMDB_413 commonName S977P CFMDB_743 protEffect p.Ser977Phe CFMDB_743 commonName S977F CFMDB_1906 protEffect p.Ser977Cys CFMDB_1749 protEffect p.Lys978X CFMDB_1862 protEffect p.Lys978X CFMDB_1862 commonName K978X CFMDB_674 protEffect p.Asp979Val CFMDB_674 commonName D979V CFMDB_673 protEffect p.Asp979Ala CFMDB_673 commonName D979A CFMDB_414 protEffect p.Ile980Lys CFMDB_414 commonName I980K CFMDB_1625 protEffect p.Ile980Met CFMDB_1625 commonName I980M CFMDB_717 protEffect p.Leu983GlyfsX2 CFMDB_717 commonName 3079delTT CFMDB_880 protEffect p.Asp985His CFMDB_880 commonName D985H CFMDB_415 protEffect p.Asp985Tyr CFMDB_415 commonName D985Y CFMDB_1782 protEffect p.Pro988Arg CFMDB_1756 protEffect p.Thr990Ser CFMDB_416 protEffect p.Thr990AsnfsX4 CFMDB_416 commonName 3100insA CFMDB_1100 protEffect p.Ile991Val CFMDB_1100 commonName I991V CFMDB_417 protEffect p.Asp993Tyr CFMDB_417 commonName D993Y CFMDB_1634 protEffect p.Asp993Gly CFMDB_1634 commonName D993G CFMDB_797 protEffect p.Phe994Cys CFMDB_797 commonName F994C CFMDB_418 commonName 3120G- >A CFMDB_1313 commonName 3120+ 198G- >A CFMDB_419 commonName 3120+ 1G- >A CFMDB_1172 commonName 3120+ 45A/G CFMDB_1645 commonName 3120+ 35 A- >T CFMDB_1765 commonName 3120+ 33G>T CFMDB_1344 commonName 3120+ 41delA CFMDB_1668 commonName 3121- 14C/A CFMDB_1337 commonName 3121- 3C- >G CFMDB_422 commonName 3121- 1G- >A CFMDB_421 commonName 3121- 2A- >G CFMDB_420 commonName 3121- 2A- >T CFMDB_936 commonName 3121- 92A12/13 CFMDB_776 protEffect p.Leu997Phe CFMDB_776 commonName L997F CFMDB_853 protEffect p.Ile1000X CFMDB_853 commonName 3126del4 CFMDB_423 protEffect p.Ile1000X CFMDB_423 commonName 3129del4 CFMDB_424 protEffect p.Val1001_Ile1005del CFMDB_424 commonName 3131del15 CFMDB_1289 protEffect p.Ile1000_Ile1005del CFMDB_1289 commonName 3130del15 CFMDB_1376 protEffect p.Ile1000LeufsX2 CFMDB_1376 commonName 3130delA CFMDB_425 protEffect p.Val1001AspfsX45 CFMDB_425 commonName 3132delTG CFMDB_1964 protEffect p.Val1001Met CFMDB_1166 protEffect p.Gly1003X CFMDB_1166 commonName G1003X CFMDB_1676 protEffect p.Gly1003Glu CFMDB_1676 commonName G1003E CFMDB_1470 protEffect p.Ala1004_Ala1006del CFMDB_1470 commonName 3141del9 CFMDB_426 protEffect p.Ile1005Arg CFMDB_426 commonName I1005R CFMDB_427 protEffect p.Ala1006Glu CFMDB_427 commonName A1006E CFMDB_1262 protEffect p.Val1008SerfsX15 CFMDB_1262 commonName 3152delT CFMDB_428 protEffect p.Val1008SerfsX15 CFMDB_428 commonName 3153delT CFMDB_875 protEffect p.Val1008SerfsX15 CFMDB_875 commonName 3154delG CFMDB_763 protEffect p.Val1008Asp CFMDB_763 commonName V1008D CFMDB_1101 protEffect p.Ala1009Thr CFMDB_1101 commonName A1009T CFMDB_583 protEffect p.Pro1013Leu CFMDB_583 commonName P1013L CFMDB_1372 protEffect p.Pro1013His CFMDB_1372 commonName P1013H CFMDB_429 protEffect p.Tyr1014LeufsX33 CFMDB_429 commonName 3171insC CFMDB_1080 protEffect p.Tyr1014ThrfsX9 CFMDB_1080 commonName 3171delC CFMDB_582 protEffect p.Ile1015LeufsX31 CFMDB_582 commonName 3173delAC CFMDB_829 protEffect p.Tyr1014Cys CFMDB_829 commonName Y1014C CFMDB_1398 protEffect p.Phe1016Ser CFMDB_1398 commonName F1016S CFMDB_1598 protEffect p.Val1020Glu CFMDB_1598 commonName V1020E CFMDB_1263 protEffect p.Pro1021Ala CFMDB_1263 commonName P1021A CFMDB_736 protEffect p.Pro1021Ser CFMDB_736 commonName P1021S CFMDB_430 protEffect p.Ile1023_Val1024del CFMDB_430 commonName 3195del6 CFMDB_431 protEffect p.Val1022_Gln1039del CFMDB_431 commonName 3196del54 CFMDB_828 protEffect p.Ile1023_Val1024del CFMDB_828 commonName 3199del6 CFMDB_1650 protEffect p.Ile1023SerfsX22 CFMDB_1650 commonName 3200_3204delTAGTG CFMDB_1858 protEffect p.Ile1023Thr CFMDB_1858 commonName I1023T CFMDB_1385 protEffect p.Ala1025Asp CFMDB_1385 commonName A1025D CFMDB_1567 protEffect p.Ile1027Thr CFMDB_1567 commonName I1027T CFMDB_1169 protEffect p.Met1028Arg CFMDB_1169 commonName M1028R CFMDB_584 protEffect p.Met1028Ile CFMDB_584 commonName M1028I CFMDB_1400 protEffect p.Tyr1032Asn CFMDB_1400 commonName Y1032N CFMDB_721 protEffect p.Tyr1032Cys CFMDB_721 commonName Y1032C CFMDB_1409 protEffect p.Gln1035X CFMDB_1409 commonName Q1035X CFMDB_1469 protEffect p.Thr1036LeufsX? CFMDB_1469 commonName 3238delA CFMDB_1783 protEffect p.Leu1040Phe CFMDB_2013 protEffect p.Leu1040Arg CFMDB_1142 protEffect p.Gln1042X CFMDB_1142 commonName Q1042X CFMDB_1722 protEffect p.Glu1044Gly CFMDB_1973 protEffect p.Glu1046X CFMDB_937 commonName 3271+ 18C/T CFMDB_827 commonName 3271+ 101C/G CFMDB_1314 protEffect p.Gly1047Arg CFMDB_1314 commonName G1047R CFMDB_1672 commonName 3271+ 1G>T CFMDB_1508 commonName 3271+ 8A>G CFMDB_938 commonName 3271+ 42A/T CFMDB_1666 commonName 3271+ 80A/T CFMDB_1104 commonName 3271+ 183 T to G CFMDB_434 commonName 3271+ 1G- >A CFMDB_970 protEffect p.Gly1047GlnfsX28 CFMDB_970 commonName 3271delGG CFMDB_675 protEffect p.Gly1047Asp CFMDB_675 commonName G1047D CFMDB_436 commonName 3272- 4A- >G CFMDB_437 commonName 3272- 1G- >A CFMDB_1351 commonName 3272- 11A- >G CFMDB_433 commonName 3272- 9A- >T CFMDB_432 commonName 3272- 54del704 CFMDB_1562 commonName 3272- 42 G/T CFMDB_435 commonName 3272- 26A- >G CFMDB_1089 commonName 3272- 33A/G CFMDB_1540 protEffect p.Arg1048Gly CFMDB_1540 commonName R1048G CFMDB_1747 protEffect p.Pro1050Ala CFMDB_1397 protEffect p.Ile1051Val CFMDB_1397 commonName I1051V CFMDB_438 protEffect p.Phe1052Val CFMDB_438 commonName F1052V CFMDB_977 protEffect p.Thr1053Ile CFMDB_977 commonName T1053I CFMDB_439 protEffect p.His1054Asp CFMDB_439 commonName H1054D CFMDB_1577 protEffect p.His1054Arg CFMDB_1577 commonName H1054R CFMDB_1523 protEffect p.His1054Leu CFMDB_1523 commonName H1054 L CFMDB_440 protEffect p.His1054LeufsX6 CFMDB_440 commonName 3293delA CFMDB_676 protEffect p.Thr1057Ala CFMDB_676 commonName T1057A CFMDB_441 protEffect p.Leu1059X CFMDB_441 commonName L1059X CFMDB_777 commonName L1059L (3309A/G) CFMDB_442 protEffect p.Lys1060Thr CFMDB_442 commonName K1060T CFMDB_443 protEffect p.Gly1061Arg CFMDB_443 commonName G1061R CFMDB_2011 protEffect p.Leu1062Leu CFMDB_444 protEffect p.Trp1063CysfsX22 CFMDB_444 commonName 3320ins5 CFMDB_445 protEffect p.Trp1063X CFMDB_445 commonName W1063X CFMDB_801 protEffect p.Leu1065Phe CFMDB_801 commonName L1065F CFMDB_447 protEffect p.Leu1065Arg CFMDB_447 commonName L1065R CFMDB_446 protEffect p.Leu1065Pro CFMDB_446 commonName L1065P CFMDB_448 protEffect p.Arg1066Cys CFMDB_448 commonName R1066C CFMDB_449 protEffect p.Arg1066Ser CFMDB_449 commonName R1066S CFMDB_1974 protEffect p.Arg1066Gly CFMDB_450 protEffect p.Arg1066His CFMDB_450 commonName R1066H CFMDB_451 protEffect p.Arg1066Leu CFMDB_451 commonName R1066L CFMDB_452 protEffect p.Ala1067Thr CFMDB_452 commonName A1067T CFMDB_1631 protEffect p.Ala1067Pro CFMDB_1631 commonName A1067P CFMDB_1758 protEffect p.Ala1067ThrfsX16 CFMDB_1450 protEffect p.Ala1067Gly CFMDB_1450 commonName A1067G CFMDB_1200 protEffect p.Ala1067Asp CFMDB_1200 commonName A1067D CFMDB_778 protEffect p.Ala1067Val CFMDB_778 commonName A1067V CFMDB_779 commonName 3333C/T CFMDB_780 commonName 3336C/T CFMDB_453 protEffect p.Gly1069Arg CFMDB_453 commonName G1069R CFMDB_454 protEffect p.Arg1070Trp CFMDB_454 commonName R1070W CFMDB_455 protEffect p.Arg1070Gln CFMDB_455 commonName R1070Q CFMDB_589 protEffect p.Arg1070Pro CFMDB_589 commonName R1070P CFMDB_1357 protEffect p.Gln1071X CFMDB_1357 commonName Q1071X CFMDB_456 protEffect p.Gln1071Pro CFMDB_456 commonName Q1071P CFMDB_1120 protEffect p.Gln1071His CFMDB_1120 commonName Q1071H CFMDB_963 protEffect p.Pro1072Leu CFMDB_963 commonName P1072L CFMDB_1294 protEffect p.Tyr1073Cys CFMDB_1294 commonName Y1073C CFMDB_2010 protEffect p.Phe1074Leu CFMDB_457 protEffect p.Phe1074Leu CFMDB_457 commonName F1074L CFMDB_458 protEffect p.Leu1077ValfsX78 CFMDB_458 commonName 3359delCT CFMDB_459 protEffect p.Leu1077Pro CFMDB_459 commonName L1077P CFMDB_2005 protEffect p.Phe1078Ile CFMDB_1738 protEffect p.Phe1078Ser CFMDB_1474 protEffect p.His1079Pro CFMDB_1474 commonName H1079P CFMDB_1863 protEffect p.Lys1080Gln CFMDB_1863 commonName K1080Q CFMDB_1359 protEffect p.Lys1080Arg CFMDB_1359 commonName K1080R CFMDB_1966 protEffect p.Lys1080Ile CFMDB_1212 protEffect p.Ala1081Pro CFMDB_1212 commonName A1081P CFMDB_781 commonName 3384A/G CFMDB_460 protEffect p.His1085Arg CFMDB_460 commonName H1085R CFMDB_1354 protEffect p.Thr1086Ala CFMDB_1354 commonName T1086A CFMDB_461 protEffect p.Thr1086Ile CFMDB_461 commonName T1086I CFMDB_1468 protEffect p.Ala1087Pro CFMDB_1468 commonName A1087P CFMDB_855 protEffect p.Asn1088Asp CFMDB_855 commonName N1088D CFMDB_1711 protEffect p.Asn1088LysfsX68 CFMDB_1115 protEffect p.Trp1089GlyfsX13 CFMDB_1115 commonName 3396delC CFMDB_462 protEffect p.Trp1089X CFMDB_462 commonName W1089X CFMDB_747 protEffect p.Tyr1092His CFMDB_747 commonName Y1092H CFMDB_1488 protEffect p.Tyr1092Cys CFMDB_1488 commonName Y1092C CFMDB_463 protEffect p.Tyr1092X CFMDB_463 commonName Y1092X(C- >A) CFMDB_464 protEffect p.Tyr1092X CFMDB_464 commonName Y1092X(C- >G) CFMDB_594 protEffect p.Leu1093Pro CFMDB_594 commonName L1093P CFMDB_782 commonName 3417A/T CFMDB_1110 protEffect p.Leu1096Arg CFMDB_1110 commonName L1096R CFMDB_465 protEffect p.Leu1096ArgfsX6 CFMDB_465 commonName 3419delT CFMDB_466 protEffect p.Trp1098GlyfsX4 CFMDB_466 commonName 3423delC CFMDB_467 protEffect p.Trp1098Arg CFMDB_467 commonName W1098R CFMDB_1641 protEffect p.Trp1098Leu CFMDB_1641 commonName W1098L CFMDB_468 protEffect p.Trp1098X CFMDB_468 commonName W1098X(TAG) CFMDB_469 protEffect p.Trp1098CysfsX4 CFMDB_469 commonName 3425delG CFMDB_638 protEffect p.Trp1098X CFMDB_638 commonName W1098X(TGA) CFMDB_2003 protEffect p.Trp1098Cys CFMDB_470 protEffect p.Gln1100Pro CFMDB_470 commonName Q1100P CFMDB_472 protEffect p.Met1101Arg CFMDB_472 commonName M1101R CFMDB_471 protEffect p.Met1101Lys CFMDB_471 commonName M1101K CFMDB_1435 protEffect p.Arg1102X CFMDB_1435 commonName R1102X CFMDB_1688 commonName 3438A/G CFMDB_1937 protEffect p.Ile1103Lys CFMDB_473 protEffect p.Glu1104X CFMDB_473 commonName E1104X CFMDB_1977 protEffect p.Glu1104Lys CFMDB_1315 protEffect p.Met1105Arg CFMDB_1315 commonName M1105R CFMDB_1669 protEffect p.Met1105IlefsX16 CFMDB_1669 commonName 3447delG CFMDB_1515 protEffect p.Val1108Leu CFMDB_1515 commonName V1108L CFMDB_1890 protEffect p.Phe1111ThrfsX10 CFMDB_1849 protEffect p.Phe1111Leu CFMDB_1849 commonName F1111L CFMDB_783 commonName 3471T/C CFMDB_1157 commonName 3477C/A CFMDB_993 protEffect p.Ser1118Cys CFMDB_993 commonName S1118C CFMDB_897 protEffect p.Ser1118Phe CFMDB_897 commonName S1118F CFMDB_474 protEffect p.Thr1122GlnfsX12 CFMDB_474 commonName 3495delA CFMDB_478 commonName 3499+ 2T- >C CFMDB_941 commonName 3499+ 45T/C CFMDB_475 protEffect p.Gly1123Arg CFMDB_475 commonName G1123R CFMDB_1316 commonName 3499+ 7T- >G CFMDB_1674 commonName 3499+ 29G/A CFMDB_940 commonName 3499+ 37G/A CFMDB_677 commonName 3499+ 3A- >G CFMDB_476 commonName 3499+ 6A- >G CFMDB_943 commonName 3500- 140A/C CFMDB_1561 commonName 3500- 50 A/C CFMDB_967 commonName 3500- 2A- >G CFMDB_1588 commonName 3500 - 1 G to A CFMDB_693 commonName 3500- 44G/A CFMDB_804 protEffect p.Glu1124del CFMDB_804 commonName E1123del CFMDB_477 protEffect p.Gly1127Glu CFMDB_477 commonName G1127E CFMDB_678 protEffect p.Arg1128X CFMDB_678 commonName R1128X CFMDB_1252 protEffect p.Val1129Gly CFMDB_1252 commonName V1129G CFMDB_1651 protEffect p.Val1129Gly CFMDB_1651 commonName V1129G CFMDB_1218 protEffect p.Gly1130Ala CFMDB_1218 commonName G1130A CFMDB_1055 protEffect p.Ile1131Val CFMDB_1055 commonName 3523A- >G CFMDB_881 protEffect p.Thr1134Ala CFMDB_881 commonName 3532AC- >GTA CFMDB_1167 protEffect p.Ala1136Thr CFMDB_1167 commonName A1136T CFMDB_479 protEffect p.Met1137Val CFMDB_479 commonName M1137V CFMDB_1549 protEffect p.Met1137Thr CFMDB_1549 commonName M1137T CFMDB_480 protEffect p.Met1137Arg CFMDB_480 commonName M1137R CFMDB_481 protEffect p.Ile1139Val CFMDB_481 commonName I1139V CFMDB_482 protEffect p.Met1140del CFMDB_482 commonName [delta]M1140 CFMDB_898 protEffect p.Met1140Lys CFMDB_898 commonName M1140K CFMDB_483 protEffect p.Thr1142LysfsX15 CFMDB_483 commonName 3556insAGTA CFMDB_1170 protEffect p.Thr1142Ile CFMDB_1170 commonName T1142I CFMDB_484 protEffect p.Gln1144X CFMDB_484 commonName Q1144X CFMDB_1757 protEffect p.Trp1145X CFMDB_1117 protEffect p.Trp1145X CFMDB_1117 commonName W1145X CFMDB_834 protEffect p.Val1147Ile CFMDB_834 commonName V1147I CFMDB_1374 protEffect p.Asn1148Ser CFMDB_1374 commonName N1148S CFMDB_1126 protEffect p.Asn1148Lys CFMDB_1126 commonName N1148K CFMDB_838 protEffect p.Ser1149ProfsX3 CFMDB_838 commonName 3577delT CFMDB_485 protEffect p.Asp1152His CFMDB_485 commonName D1152H CFMDB_679 protEffect p.Val1153Glu CFMDB_679 commonName V1153E CFMDB_1662 protEffect p.Asp1154Tyr CFMDB_1662 commonName D1154Y CFMDB_486 protEffect p.Asp1154Gly CFMDB_486 commonName D1154G CFMDB_1174 commonName 3600+ 2T- >C CFMDB_1640 protEffect p.Leu1156Phe CFMDB_1640 commonName L1156F CFMDB_694 commonName 3600+ 42G/A CFMDB_488 commonName 3600+ 5G- >A CFMDB_845 commonName 3600+ 2insT CFMDB_487 commonName 3600G- >A CFMDB_945 commonName 3601- 111G/C CFMDB_944 commonName 3601- 65C/A CFMDB_608 commonName 3601- 20T- >C CFMDB_489 commonName 3601- 17T- >C CFMDB_490 commonName 3601- 2A- >G CFMDB_491 protEffect p.Arg1158X CFMDB_491 commonName R1158X CFMDB_1879 protEffect p.Arg1158Arg CFMDB_492 protEffect p.Ser1159Pro CFMDB_492 commonName S1159P CFMDB_1158 protEffect p.Ser1159Phe CFMDB_1158 commonName S1159F CFMDB_1745 protEffect p.Ser1159Tyr CFMDB_1317 protEffect p.Ser1161Arg CFMDB_1317 commonName S1161R CFMDB_493 protEffect p.Arg1162X CFMDB_493 commonName R1162X CFMDB_784 protEffect p.Arg1162Leu CFMDB_784 commonName 3617G/T CFMDB_1673 protEffect p.Val1163LeufsX2 CFMDB_1673 commonName 3617delGA CFMDB_607 protEffect p.Lys1165X CFMDB_607 commonName 3622insT CFMDB_1903 protEffect p.Lys1165Thr CFMDB_1366 protEffect p.Phe1166Cys CFMDB_1366 commonName F1166C CFMDB_1350 protEffect p.Phe1166SerfsX26 CFMDB_1350 commonName 3629delT CFMDB_494 protEffect p.Asp1168Gly CFMDB_494 commonName D1168G CFMDB_1560 commonName 3636 C/T CFMDB_495 protEffect p.Lys1177SerfsX15 CFMDB_495 commonName 3659delC CFMDB_1216 protEffect p.Lys1177X CFMDB_1216 commonName K1177X CFMDB_496 protEffect p.Lys1177Arg CFMDB_496 commonName K1177R CFMDB_497 protEffect p.Lys1177SerfsX15 CFMDB_497 commonName 3662delA CFMDB_499 protEffect p.Thr1179IlefsX17 CFMDB_499 commonName 3667ins4 CFMDB_498 protEffect p.Thr1179AsnfsX12 CFMDB_498 commonName 3667del4 CFMDB_1050 protEffect p.Lys1180AsnfsX12 CFMDB_1050 commonName 3670delA CFMDB_500 protEffect p.Tyr1182X CFMDB_500 commonName Y1182X CFMDB_602 protEffect p.Gln1186X CFMDB_602 commonName Q1186X CFMDB_785 commonName Q1186Q (3690A/G) CFMDB_984 commonName 3696G/A CFMDB_501 protEffect p.Val1190Asp CFMDB_501 commonName V1190D CFMDB_1288 protEffect p.Asn1195Thr CFMDB_1288 commonName N1195T CFMDB_502 protEffect p.Ser1196X CFMDB_502 commonName S1196X CFMDB_503 protEffect p.Val1198X CFMDB_503 commonName 3724delG CFMDB_786 commonName 3726G/T CFMDB_1930 protEffect p.Lys1200SerfsX12 CFMDB_504 protEffect p.Asp1201MetfsX10 CFMDB_504 commonName 3732delA CFMDB_505 protEffect p.Asp1202AlafsX9 CFMDB_505 commonName 3737delA CFMDB_1990 protEffect p.Ile1203Val CFMDB_506 protEffect p.Trp1204X CFMDB_506 commonName W1204X(3743G- >A) CFMDB_1511 protEffect p.Trp1204X CFMDB_1511 commonName W1204X(3744G- >A) CFMDB_1440 protEffect p.Ser1206X CFMDB_1440 commonName S1206X(C>A) CFMDB_623 protEffect p.Ser1206X CFMDB_623 commonName S1206X CFMDB_507 protEffect p.Gly1208ProfsX56 CFMDB_507 commonName 3750delAG CFMDB_960 protEffect p.Gly1208AlafsX3 CFMDB_960 commonName 3755delG CFMDB_2008 protEffect p.Gln1209His CFMDB_1399 protEffect p.Met1210Lys CFMDB_1399 commonName M1210K CFMDB_508 protEffect p.Met1210Ile CFMDB_508 commonName M1210I CFMDB_509 protEffect p.Val1212Ile CFMDB_509 commonName V1212I CFMDB_1878 protEffect p.Val1212Phe CFMDB_1559 commonName 3780 A/C CFMDB_890 protEffect p.Thr1220AsnfsX45 CFMDB_890 commonName 3789insA CFMDB_510 protEffect p.Thr1220LysfsX8 CFMDB_510 commonName 3791delC CFMDB_787 protEffect p.Thr1220Ile CFMDB_787 commonName 3791C/T CFMDB_1900 protEffect p.Gly1222ValfsX44 CFMDB_1904 protEffect p.Ala1225Val CFMDB_812 protEffect p.Leu1227Ser CFMDB_812 commonName L1227S CFMDB_1882 protEffect p.Leu1227Leu CFMDB_1847 protEffect p.Glu1228Lys CFMDB_1847 commonName E1228K CFMDB_1084 protEffect p.Glu1228Gly CFMDB_1084 commonName E1228G CFMDB_1746 protEffect p.Asn1229Lys CFMDB_728 protEffect p.Ile1230Thr CFMDB_728 commonName I1230T CFMDB_1230 protEffect p.Ser1231ProfsX4 CFMDB_1230 commonName 3821- 3823del T CFMDB_511 protEffect p.Ser1231ProfsX4 CFMDB_511 commonName 3821delT CFMDB_628 protEffect p.Ile1234Leu CFMDB_628 commonName I1234L CFMDB_512 protEffect p.Ile1234Val CFMDB_512 commonName I1234V CFMDB_513 protEffect p.Ser1235Arg CFMDB_513 commonName S1235R CFMDB_1975 protEffect p.Gly1237AlafsX22 CFMDB_1127 protEffect p.Gly1237Ser CFMDB_1127 commonName G1237S CFMDB_514 protEffect p.Gln1238X CFMDB_514 commonName Q1238X CFMDB_515 protEffect p.Gln1238Arg CFMDB_515 commonName Q1238R CFMDB_518 commonName 3849+ 10kbC- >T CFMDB_516 commonName 3849G- >A CFMDB_1695 protEffect p.Arg1239Ser CFMDB_1695 commonName R1239S CFMDB_1319 commonName 3849+ 40A- >G CFMDB_1320 commonName 3849+ 45G- >A CFMDB_519 commonName 3849+ 4A- >G CFMDB_847 commonName 3849+ 5G- >A CFMDB_517 commonName 3849+ 1G- >A CFMDB_595 commonName 3850- 129T/C CFMDB_741 commonName 3850- 79T/C CFMDB_1616 commonName 3850- 41C/G CFMDB_521 commonName 3850- 3T- >G CFMDB_520 commonName 3850- 1G- >A CFMDB_1054 protEffect p.Val1240Gly CFMDB_1054 commonName V1240G CFMDB_522 commonName 3860ins31 CFMDB_1481 protEffect p.Gly1244Arg CFMDB_1481 commonName G1244R CFMDB_523 protEffect p.Gly1244Glu CFMDB_523 commonName G1244E CFMDB_524 protEffect p.Gly1244Val CFMDB_524 commonName G1244V CFMDB_788 commonName 3867A/G CFMDB_525 protEffect p.Thr1246Ile CFMDB_525 commonName T1246I CFMDB_1490 protEffect p.Gly1247Arg CFMDB_1490 commonName G1247R(G- >C) CFMDB_599 protEffect p.Gly1247Arg CFMDB_599 commonName G1247R(G- >A) CFMDB_808 protEffect p.Lys1250ArgfsX9 CFMDB_808 commonName 3876delA CFMDB_526 protEffect p.Gly1249Arg CFMDB_526 commonName G1249R CFMDB_527 protEffect p.Gly1249Glu CFMDB_527 commonName G1249E CFMDB_1040 protEffect p.Lys1250ArgfsX9 CFMDB_1040 commonName 3878delG CFMDB_528 protEffect p.Ser1251Asn CFMDB_528 commonName S1251N CFMDB_609 protEffect p.Thr1252Pro CFMDB_609 commonName T1252P CFMDB_1615 commonName 3891 G/A CFMDB_1867 protEffect p.Leu1253Phe CFMDB_1867 commonName L1253F CFMDB_529 protEffect p.Leu1254X CFMDB_529 commonName L1254X CFMDB_1751 protEffect p.Leu1254Phe CFMDB_530 protEffect p.Ser1255Pro CFMDB_530 commonName S1255P CFMDB_698 protEffect p.Ser1255Leu CFMDB_698 commonName S1255L CFMDB_531 protEffect p.Ser1255X CFMDB_531 commonName S1255X CFMDB_532 protEffect p.Leu1258PhefsX7 CFMDB_532 commonName 3898insC CFMDB_1842 protEffect p.Ala1256Val CFMDB_1842 commonName A1256V CFMDB_899 protEffect p.Phe1257Leu CFMDB_899 commonName F1257L CFMDB_533 protEffect p.Leu1258PhefsX7 CFMDB_533 commonName 3905insT CFMDB_534 protEffect p.Arg1259GlufsX6 CFMDB_534 commonName 3906insG CFMDB_535 protEffect p.Leu1261del CFMDB_535 commonName [delta]L1260 CFMDB_1327 protEffect p.Leu1260Arg CFMDB_1327 commonName L1260R CFMDB_1582 protEffect p.Thr1263Ala CFMDB_1582 commonName T1263A CFMDB_1404 protEffect p.Thr1263Ile CFMDB_1404 commonName T1263I CFMDB_606 protEffect p.Glu1264SerfsX11 CFMDB_606 commonName 3922del10- >C CFMDB_1773 protEffect p.Ile1267Asn CFMDB_1623 protEffect p.Gln1268Arg CFMDB_1623 commonName Q1268R CFMDB_536 protEffect p.Ile1269Asn CFMDB_536 commonName I1269N CFMDB_789 commonName 3939C/T CFMDB_537 protEffect p.Asp1270Asn CFMDB_537 commonName D1270N CFMDB_1475 protEffect p.Asp1270Tyr CFMDB_1475 commonName D1270Y CFMDB_839 protEffect p.Ser1273LeufsX28 CFMDB_839 commonName 3944delGT CFMDB_1992 protEffect p.Ser1273LeufsX28 CFMDB_989 protEffect p.Trp1274X CFMDB_989 commonName W1274X CFMDB_1883 protEffect p.Asp1275Asp CFMDB_1332 protEffect p.Ile1277X CFMDB_1332 commonName 3960- 3961delA CFMDB_1770 protEffect p.Leu1279AlafsX22 CFMDB_1734 protEffect p.Leu1279Leu CFMDB_680 protEffect p.Gln1281X CFMDB_680 commonName Q1281X CFMDB_597 protEffect p.Trp1282Gly CFMDB_597 commonName W1282G CFMDB_538 protEffect p.Trp1282Arg CFMDB_538 commonName W1282R CFMDB_708 protEffect p.Trp1282Cys CFMDB_708 commonName W1282C CFMDB_539 protEffect p.Trp1282X CFMDB_539 commonName W1282X CFMDB_1744 protEffect p.Arg1283Gly CFMDB_541 protEffect p.Arg1283Met CFMDB_541 commonName R1283M CFMDB_540 protEffect p.Arg1283Lys CFMDB_540 commonName R1283K CFMDB_1834 commonName 3849+ 12192G>A CFMDB_1793 protEffect p.Ala1285Val CFMDB_1727 protEffect p.Phe1286LeufsX3 CFMDB_1843 protEffect p.Ala1285Val CFMDB_1843 commonName A1285V CFMDB_542 protEffect p.Phe1286Ser CFMDB_542 commonName F1286S CFMDB_1584 protEffect p.Pro1290Thr CFMDB_1584 commonName P1290T CFMDB_1513 protEffect p.Pro1290Ser CFMDB_1513 commonName P1290S CFMDB_790 commonName P1290P (4002A/G) CFMDB_1098 protEffect p.Gln1291X CFMDB_1098 commonName Q1291X CFMDB_543 protEffect p.Gln1291Arg CFMDB_543 commonName Q1291R CFMDB_756 commonName 4005+ 2T- >C CFMDB_1321 commonName 4005+ 29G- >C CFMDB_544 protEffect p.Gln1291His CFMDB_544 commonName Q1291H CFMDB_545 commonName 4005+ 1G- >A CFMDB_1659 commonName 4005+ 23delA CFMDB_1322 commonName 4005+ 33A- >G CFMDB_946 commonName 4005+ 117T/G CFMDB_947 commonName 4005+ 121delTT CFMDB_1835 commonName 4005+ 3G>T CFMDB_1557 commonName 4006- 50 A/C CFMDB_1558 commonName 4006- 26 T/C CFMDB_644 commonName 4006- 14C- >G CFMDB_1628 commonName 4006- 11 t- >G CFMDB_681 commonName 4006- 4A- >G CFMDB_547 commonName 4006- 19del3 CFMDB_949 commonName 4006- 200G/A CFMDB_614 commonName 4006- 103delT CFMDB_546 commonName 4006- 61del14 CFMDB_727 commonName 4006- 8T- >A CFMDB_1389 commonName 4006- 46delTATTT CFMDB_1051 protEffect p.Val1293TyrfsX35 CFMDB_1051 commonName 4006delA CFMDB_744 protEffect p.Val1293Ile CFMDB_744 commonName V1293I CFMDB_548 protEffect p.Ile1295PhefsX32 CFMDB_548 commonName 4010del4 CFMDB_549 protEffect p.Ile1295PhefsX33 CFMDB_549 commonName 4015delA CFMDB_550 protEffect p.Ser1297PhefsX5 CFMDB_550 commonName 4016insT CFMDB_1417 protEffect p.Gly1298TrpfsX4 CFMDB_1417 commonName 4022insT CFMDB_1854 protEffect p.Gly1298Ala CFMDB_1854 commonName G1298A CFMDB_1957 protEffect p.Gly1298Val CFMDB_682 protEffect p.Thr1299Ile CFMDB_682 commonName T1299I CFMDB_791 commonName 4029A/G CFMDB_645 protEffect p.Phe1300Leu CFMDB_645 commonName F1300L CFMDB_1427 protEffect p.Lys1302Arg CFMDB_1427 commonName K1302R CFMDB_551 protEffect p.Asn1303His CFMDB_551 commonName N1303H CFMDB_553 protEffect p.Asn1303Ile CFMDB_553 commonName N1303I CFMDB_552 protEffect p.Asn1303ThrfsX25 CFMDB_552 commonName 4040delA CFMDB_1762 protEffect p.Asn1303LysfsX6 CFMDB_554 protEffect p.Asn1303Lys CFMDB_554 commonName N1303K CFMDB_1599 protEffect p.Leu1304_Asp1305delinsVal1304 CFMDB_1599 commonName 4041_4046del6insTGT CFMDB_1753 protEffect p.Leu1304Met CFMDB_738 protEffect p.Asp1305Glu CFMDB_738 commonName D1305E CFMDB_555 protEffect p.Tyr1307ProfsX22 CFMDB_555 commonName 4048insCC CFMDB_792 commonName P1306P (4050C/T) CFMDB_1279 protEffect p.Tyr1307Cys CFMDB_1279 commonName Y1307C CFMDB_992 protEffect p.Tyr1307X CFMDB_992 commonName Y1307X CFMDB_719 protEffect p.Glu1308X CFMDB_719 commonName E1308X CFMDB_1928 protEffect p.Gln1309Glu CFMDB_1938 protEffect p.Gln1309X CFMDB_1600 protEffect p.Gln1309His CFMDB_1600 commonName Q1309H CFMDB_556 protEffect p.Trp1310X CFMDB_556 commonName W1310X CFMDB_1323 protEffect p.Ser1311Gly CFMDB_1323 commonName S1311R CFMDB_1759 protEffect p.Ser1311LysfsX12 CFMDB_1901 protEffect p.Ser1311Asn CFMDB_1654 protEffect p.Asp1312Gly CFMDB_1654 commonName D1312G CFMDB_683 protEffect p.Gln1313Lys CFMDB_683 commonName Q1313K CFMDB_557 protEffect p.Gln1313X CFMDB_557 commonName Q1313X CFMDB_558 protEffect p.Trp1316X CFMDB_558 commonName W1316X CFMDB_903 protEffect p.Val1318Ala CFMDB_903 commonName V1318A CFMDB_1997 protEffect p.Val1318Gly CFMDB_793 commonName 4086T/C CFMDB_1700 protEffect p.Ala1319Glu CFMDB_1700 commonName A1319E CFMDB_1836 protEffect p.Asp1320ArgfsX3 CFMDB_1836 commonName 4089ins4 CFMDB_559 protEffect p.Glu1321Gln CFMDB_559 commonName E1321Q CFMDB_1415 commonName CFTRdele22, 23 CFMDB_1601 commonName 4095+ 1G>C CFMDB_612 commonName 4095+ 42T/C CFMDB_1655 commonName 4095+ 1G- >T CFMDB_1370 commonName 4095+ 2T- >A CFMDB_950 commonName 4096- 283T/C CFMDB_1837 commonName 4096- 6C>T CFMDB_709 commonName 4096- 3C- >G CFMDB_1260 commonName 4096- 1G- >A CFMDB_684 commonName 4096- 28G- >A CFMDB_1377 protEffect p.Leu1324Pro CFMDB_1377 commonName L1324P CFMDB_633 protEffect p.Ser1326LeufsX2 CFMDB_633 commonName 4108delT CFMDB_560 protEffect p.Ile1328LeufsX? CFMDB_560 commonName 4114ATA- >TT CFMDB_1730 protEffect p.Glu1329Gln CFMDB_1982 protEffect p.Glu1329Val CFMDB_1855 protEffect p.Gly1333Trp CFMDB_1855 commonName G1333W CFMDB_1580 protEffect p.Leu1335Phe CFMDB_1580 commonName L1335F CFMDB_807 protEffect p.Leu1335Pro CFMDB_807 commonName L1335P CFMDB_819 protEffect p.Phe1337Val CFMDB_819 commonName F1337V CFMDB_1201 protEffect p.Leu1339Phe CFMDB_1201 commonName L1339F CFMDB_1784 protEffect p.Gly1343Ser CFMDB_1802 protEffect p.Cys1344GlyfsX16 CFMDB_1484 protEffect p.Leu1346MetfsX6 CFMDB_1484 commonName 4168delCTAAGCC CFMDB_1713 protEffect p.Ser1347ProfsX13 CFMDB_1602 protEffect p.Ser1347LysfsX12 CFMDB_1602 commonName 4171insA CFMDB_561 protEffect p.Ser1347ThrfsX11 CFMDB_561 commonName 4172delGC CFMDB_562 protEffect p.His1348MetfsX6 CFMDB_562 commonName 4173delC CFMDB_998 protEffect p.Gly1349Ser CFMDB_998 commonName G1349S CFMDB_563 protEffect p.Gly1349Asp CFMDB_563 commonName G1349D CFMDB_634 protEffect p.Lys1351Glu CFMDB_634 commonName K1351E CFMDB_1586 protEffect p.Gln1352Glu CFMDB_1586 commonName Q1352E CFMDB_564 protEffect p.Gln1352His CFMDB_564 commonName Q1352H(G- >C) CFMDB_1446 protEffect p.Gln1352His CFMDB_1446 commonName Q1352H(G- >T) CFMDB_1202 protEffect p.Ala1357LeufsX? CFMDB_1202 commonName 4203TAG- >AA CFMDB_1159 protEffect p.Arg1358Ser CFMDB_1159 commonName R1358S CFMDB_1472 protEffect p.Val1360delfsX? CFMDB_1472 commonName 4209TGTT- >AA CFMDB_565 protEffect p.Lys1363X CFMDB_565 commonName 4218insT CFMDB_566 protEffect p.Ala1364Val CFMDB_566 commonName A1364V CFMDB_1160 protEffect p.Ile1366Thr CFMDB_1160 commonName I1366T CFMDB_1976 protEffect p.Ile1366Asn CFMDB_1764 protEffect p.Ile1384X CFMDB_567 protEffect p.Glu1371X CFMDB_567 commonName E1371X CFMDB_1776 protEffect p.Glu1371dup CFMDB_1353 protEffect p.Pro1372Thr CFMDB_1353 commonName P1372T CFMDB_1507 protEffect p.Pro1372Leu CFMDB_1507 commonName P1372 L CFMDB_1768 protEffect p.His1375Asn CFMDB_1491 protEffect p.His1375Pro CFMDB_1491 commonName H1375P CFMDB_1932 protEffect p.Leu1376SerfsX8 CFMDB_568 protEffect p.Asp1377His CFMDB_568 commonName D1377H CFMDB_621 commonName 4269- 139G/A CFMDB_1037 commonName 4269- 108A- >G CFMDB_569 protEffect p.Thr1380AsnfsX4 CFMDB_569 commonName 4271delC CFMDB_1452 protEffect p.Tyr1381ThrfsX3 CFMDB_1452 commonName 4272delA CFMDB_1573 protEffect p.Tyr1381His CFMDB_1573 commonName Y1381H CFMDB_1275 protEffect p.Tyr1381X CFMDB_1275 commonName Y1381X CFMDB_959 protEffect p.Gln1382X CFMDB_959 commonName Q1382X CFMDB_570 protEffect p.Ile1383AsnfsX3 CFMDB_570 commonName 4279insA CFMDB_1622 protEffect p.Leu1388Val CFMDB_1622 commonName L1388V CFMDB_685 protEffect p.Leu1388Gln CFMDB_685 commonName L1388Q CFMDB_1652 protEffect p.Gln1390X CFMDB_1652 commonName Q1390X CFMDB_1213 protEffect p.Ala1391HisfsX7 CFMDB_1213 commonName 4301(4302?)delA CFMDB_1884 protEffect p.Asp1394Asp CFMDB_571 protEffect p.Val1397Glu CFMDB_571 commonName V1397E CFMDB_1479 protEffect p.Ile1398Ser CFMDB_1479 commonName I1398S CFMDB_573 protEffect p.Cys1400X CFMDB_573 commonName 4326delTC CFMDB_1665 protEffect p.Cys1400X CFMDB_1665 commonName 4326delTC CFMDB_1658 commonName 4329C/G CFMDB_1741 protEffect p.Leu1399Leu CFMDB_1111 protEffect p.Cys1400X CFMDB_1111 commonName 4332delTG CFMDB_1732 protEffect p.Glu1401GlyfsX61 CFMDB_1514 protEffect p.Glu1401Lys CFMDB_1514 commonName E1401K CFMDB_854 protEffect p.Glu1401X CFMDB_854 commonName E1401X CFMDB_1250 protEffect p.Glu1401Ala CFMDB_1250 commonName E1401A CFMDB_1603 protEffect p.Glu1401Gly CFMDB_1603 commonName E1401G CFMDB_1378 protEffect p.Met1407Thr CFMDB_1378 commonName M1407T CFMDB_794 commonName 4356G/A CFMDB_1364 protEffect p.Glu1409Lys CFMDB_1364 commonName E1409K CFMDB_572 protEffect p.Glu1409Val CFMDB_572 commonName E1409V CFMDB_574 protEffect p.Gln1411X CFMDB_574 commonName Q1411X CFMDB_1959 protEffect p.Gln1411Pro CFMDB_575 protEffect p.Gln1412X CFMDB_575 commonName Q1412X CFMDB_1547 protEffect p.Leu1414Ser CFMDB_1547 commonName L1414S CFMDB_1838 commonName 4374+ 2T>C CFMDB_917 commonName 4374+ 10T- >C CFMDB_951 commonName 4374+ 13A/G CFMDB_952 commonName 4374+ 14A/G CFMDB_576 commonName 4374+ 1G- >A CFMDB_577 commonName 4374+ 1G- >T CFMDB_1604 protEffect p.Leu1414Phe CFMDB_1604 commonName 4374_4374+ 1GG>TT CFMDB_953 commonName 4375- 15C/T CFMDB_1251 commonName 4375- 2A- >C CFMDB_1038 commonName 4375- 1G- >C CFMDB_1743 commonName 4375- 7delT CFMDB_578 protEffect p.Glu1418ArgfsX14 CFMDB_578 commonName 4382delA CFMDB_1428 protEffect p.Glu1418X CFMDB_1428 commonName E1418X CFMDB_814 protEffect p.Arg1422Trp CFMDB_814 commonName R1422W CFMDB_795 commonName 4404C/T CFMDB_1771 protEffect p.Tyr1424X CFMDB_1161 protEffect p.Ser1426Pro CFMDB_1161 commonName S1426P CFMDB_1276 protEffect p.Ser1426Phe CFMDB_1276 commonName S1426F CFMDB_1859 protEffect p.Ile427Thr CFMDB_1859 commonName I1427T CFMDB_700 protEffect p.Asn1432Lys CFMDB_700 commonName N1432K CFMDB_846 protEffect p.Ser1435GlyfsX14 CFMDB_846 commonName 4428insGA CFMDB_1406 protEffect p.Arg1438Trp CFMDB_1406 commonName R1438W CFMDB_1962 protEffect p.Ala1440Ala CFMDB_1556 commonName 4464 C/T CFMDB_629 protEffect p.Asp1445Asn CFMDB_629 commonName D1445N CFMDB_1014 protEffect p.Arg1453Trp CFMDB_1014 commonName R1453W CFMDB_579 protEffect p.Ser1455X CFMDB_579 commonName S1455X CFMDB_1978 protEffect p.Ser1456Asn CFMDB_1816 protEffect p.Lys1459Lys CFMDB_1543 protEffect p.Gln1463His CFMDB_1543 commonName Q1463H CFMDB_796 commonName 4521G/A CFMDB_1825 protEffect p.Lys1468Asn CFMDB_1341 protEffect p.Glu1473X CFMDB_1341 commonName E1473X CFMDB_1550 commonName 4557 G/A CFMDB_1034 protEffect p.Gln1476X CFMDB_1034 commonName Q1476X CFMDB_1162 commonName 4563T/C CFMDB_1542 protEffect p.Leu1480Pro CFMDB_1542 commonName L1480P CFMDB_1324 commonName 4575+ 2G- >A CFMDB_1039 commonName 4655T- >G CFMDB_1369 commonName CFTRdele14b- 17b CFMDB_580 commonName CFTR50kbdel CFMDB_1664 commonName CFTRdup1- 3 CFMDB_1380 commonName CFTRdele1 CFMDB_1411 commonName CFTRdele1Ins299bp CFMDB_1430 commonName CFTRdele1 or 136del119ins299 CFMDB_1429 commonName CFTRdele1- 24 CFMDB_687 protEffect p.Ser18ArgfsX16 CFMDB_687 commonName CFTRdele2, 3 CFMDB_686 commonName CFTRdele2 CFMDB_1105 commonName CFTRdele2- 10 CFMDB_1381 commonName CFTRdele3- 10, 14b- 16 CFMDB_1431 commonName CFTRdele3- 10, 14b- 16 CFMDB_1412 commonName CFTRdele4Ins41bp CFMDB_1413 commonName CFTRdele4- 6aIns6bp CFMDB_1407 commonName CFTRdup4- 8 CFMDB_581 commonName CFTR40kbdel CFMDB_1607 commonName CFTRdup10_18 CFMDB_1606 commonName CFTRdup11_13 CFMDB_1414 commonName CFTRdele11- 16Ins35bp CFMDB_689 commonName CFTRdele14a CFMDB_642 commonName CFTRdele14b- 18 CFMDB_1106 commonName CFTRdele16- 17b CFMDB_1085 commonName CFTRdele17b18 CFMDB_1205 commonName CFTRdele19 CFMDB_1086 commonName CFTRdele21 CFMDB_1522 commonName 120del23 CFMDB_1356 protEffect p.Leu454_Val456del CFMDB_1356 commonName 1491- 1500del CFMDB_1456 commonName Del exon 17a- 17b- 18 CFMDB_1434 commonName 3413del355_insTGTTAA CFMDB_1454 commonName Del Pr- Ex1 CFMDB_1457 commonName Del exon 17a- 17b CFMDB_1433 commonName 3121- 977_3499+ 248del2515 CFMDB_1498 protEffect p.Ser429_Val440delfsX1 CFMDB_1498 commonName 1429del7bp CFMDB_1518 commonName delePr- 3 CFMDB_1453 commonName Del Pr- Ex1- Ex2 CFMDB_1480 commonName Dup ex 6b- 10 (gIVS6a+ 415_IVS10+ 2987Dup26817bp) CFMDB_1459 commonName Del exon 4- 6a CFMDB_1460 commonName Del exon 2- 3 CFMDB_1605 commonName delEx2- 6b CFMDB_1455 commonName Del exon 22- 24 CFMDB_1458 commonName Del exon 22- 23 CFMDB_1533 commonName delEx2- 9 CFMDB_1432 commonName 2752- 674_3499+ 198del9855 CFMDB_1204 commonName 4375- 36delT CBS_c.833T>C commonName 833 T>C CBS_c.833T>C protEffect I278T CBS_c.572C>T commonName 572 C>T CBS_c.572C>T protEffect T191M CBS_c.919G>A commonName 919 G>A CBS_c.919G>A protEffect G307S CBS_c.1006C>T commonName 1006 C>T CBS_c.1006C>T protEffect R336C CBS_g.22159A>C commonName IVS11-2 A>C CBS_g.22159A>C protEffect del ex 12 CBS_c.969G>A commonName 969 G>A CBS_c.969G>A protEffect W323X CBS_c.1330G>A commonName 1330 G>A CBS_c.1330G>A protEffect D444N CBS_c.374G>A commonName 374 G>A CBS_c.374G>A protEffect R125Q CBS_c.430G>A commonName 430 G>A CBS_c.430G>A protEffect E144K CBS_c.1058C>T commonName 1058 C>T CBS_c.1058C>T protEffect T353M CBS_c.797G>A commonName 797 G>A CBS_c.797G>A protEffect R266K CBS_c.1566delG commonName 1566delG CBS_c.1566delG protEffect fs, stop at aa 540 CBS_c.785C>T commonName 785 C>T CBS_c.785C>T protEffect T262M CBS_c.341C>T commonName 341 C>T CBS_c.341C>T protEffect A114V CBS_c.494G>A commonName 494 G>A CBS_c.494G>A protEffect C165Y CBS_c.362G>A commonName 362 G>A CBS_c.362G>A protEffect R121H CBS_c.904G>A commonName 904 G>A CBS_c.904G>A protEffect E302K CBS_c.253G>A commonName 253 G>A CBS_c.253G>A protEffect G85R CBS_c.1039G>A commonName 1039 G>A CBS_c.1039G>A protEffect G347S CBS_c.302T>C commonName 302 T>C CBS_c.302T>C protEffect L101P CBS_c.676G>A commonName 676 G>A CBS_c.676G>A protEffect A226T CBS_c.1321A>T commonName 1321 A>T CBS_c.1321A>T protEffect K441X CBS_c.457G>A commonName 457 G>A CBS_c.457G>A protEffect G153R CBS_c.451G>A commonName 451 G>A CBS_c.451G>A protEffect G151R CBS_c.770C>T commonName 770 C>T CBS_c.770C>T protEffect T257M CBS_c.862G>A commonName 862 G>A CBS_c.862G>A protEffect A288T CBS_c.700G>A commonName 700 G>A CBS_c.700G>A protEffect D234N CBS_c.959T>C commonName 959 T>C CBS_c.959T>C protEffect V320A CBS_c.373C>T commonName 373 C>T CBS_c.373C>T protEffect R125W CBS_c.19_20insC commonName 19insC CBS_c.19_20insC protEffect fs, stop at aa 36 CBS_c.1007G>A commonName 1007 G>A CBS_c.1007G>A protEffect R336H CBS_g.9152G>A commonName IVS1+1G>A CBS_g.9152G>A protEffect del ex1 or 153del57 CBS_c.346G>A commonName 346 G>A CBS_c.346G>A protEffect G116R CBS_c.146C>T commonName 146 C>T CBS_c.146C>T protEffect P49L CBS_c.361C>T commonName 361 C>T CBS_c.361C>T protEffect R121C CBS_c.1105C>T commonName 1105 C>T CBS_c.1105C>T protEffect R369C CBS_c.1111G>A commonName 1111 G>A CBS_c.1111G>A protEffect V371M CBS_c.684C>A commonName 684 C>A CBS_c.684C>A protEffect N228K CBS_c.194A>G commonName 194 A>G CBS_c.194A>G protEffect H65R CBS_c.1013T>C commonName 1013 T>C CBS_c.1013T>C protEffect L338P CBS_c.533_550del commonName 533 del 18 CBS_c.533_550del protEffect del aa 179-184 CBS_c.1046G>A commonName 1046 G>A CBS_c.1046G>A protEffect S349N CBS_c.456C>G commonName 456 C>G CBS_c.456C>G protEffect I152M CBS_c.1316G>A commonName 1316 G>A CBS_c.1316G>A protEffect R439Q CBS_c.325T>C commonName 325 T>C CBS_c.325T>C protEffect C109R CBS_c.824G>A commonName 824 G>A CBS_c.824G>A protEffect C275Y CBS_c.442G>A commonName 442 G>A CBS_c.442G>A protEffect G148R CBS_c.463G>A commonName 463 G>A CBS_c.463G>A protEffect A155T CBS_c.694C>G commonName 694 C>G CBS_c.694C>G protEffect H232D CBS_c.1136G>A commonName 1136 G>A CBS_c.1136G>A protEffect R379Q CBS_c.683A>G commonName 683 A>G CBS_c.683A>G protEffect N228S CBS_c.689delT commonName 689delT CBS_c.689delT protEffect L230RfsX39 CBS_g.18827G>T commonName IVS9+1 G>T CBS_g.18827G>T protEffect del ex 9, T318fsX330 CBS_c.1081G>A commonName 1081G>A CBS_c.1081G>A protEffect A361T CBS_c.1106G>A commonName 1106 G>A CBS_c.1106G>A protEffect R369H CBS_c.1060G>A commonName 1060 G>A CBS_c.1060G>A protEffect V354M CBS_c.862_866del5 commonName 862_866del5 CBS_c.862_866del5 protEffect E289GfsX39 CBS_c.1150A>G commonName 1150 A>G CBS_c.1150A>G protEffect K384E CBS_c.1152G>C commonName 1152 G>C CBS_c.1152G>C protEffect K384N CBS_c.715G>A commonName 715 G>A CBS_c.715G>A protEffect E239K CBS_c.700_702delGAC commonName 700_702delGAC CBS_c.700_702delGAC protEffect 234delD CBS_c.691G>C commonName 691 G>C CBS_c.691G>C protEffect A231L CBS_g.15858_15865del commonName IVS5-14_-7del8 CBS_g.15858_15865del protEffect Y223GfsX23 CBS_g.22875G>C commonName IVS12-1 G>C CBS_g.22875G>C protEffect del exon 13 CBS_c.262C>T commonName 262 C>T CBS_c.262C>T protEffect P88S CBS_c.233C>G commonName 233 C>G CBS_c.233C>G protEffect P78R CBS_c.362G>T commonName 362 G>T CBS_c.362G>T protEffect R121L CBS_g.12518G>C commonName IVS1-1G>C CBS_g.12518G>C protEffect 210del26, fs stop at aa 9 CBS_c.1591_1594del commonName 1591del4 CBS_c.1591_1594del protEffect 1591delTTCG, fs CBS_c.502G>A commonName 502 G>A CBS_c.502G>A protEffect V168M CBS_c.518delTGA commonName 518delTGA CBS_c.518delTGA protEffect M173del CBS_c.526G>A commonName 526 G>A CBS_c.526G>A protEffect E176K CBS_g.15521G>A commonName IVS4+1 G>A CBS_g.15521G>A protEffect n.d. CBS_c.1226G>A commonName 1226 G>A CBS_c.1226G>A protEffect W409X CBS_c.28delG commonName 28delG CBS_c.28delG protEffect fs, stop at aa 81 CBS_c.1616T>C commonName 1616 T>C CBS_c.1616T>C protEffect L539S CBS_c.1367T>C commonName 1367 T>C CBS_c.1367T>C protEffect L456P CBS_c.1627_1645del commonName 1627del19 CBS_c.1627_1645del protEffect fs, stop at aa 568 CBS_g.18186G>A commonName IVS8+1G>A CBS_g.18186G>A protEffect del ex 8 CBS_c.429C>G commonName 429 C>G CBS_c.429C>G protEffect I143M CBS_c.1601T>A commonName 1601 T>A CBS_c.1601T>A protEffect V534D CBS_c.1590_1593del commonName 1590del4 CBS_c.1590_1593del protEffect 1590delGTTC, fs CBS_c.1063G>C commonName 1063G>C CBS_c.1063G>C protEffect A355P CBS_c.1576C>A commonName 1576 C>A CBS_c.1576C>A protEffect Q526K CBS_c.1055G>A commonName 1055 G>A CBS_c.1055G>A protEffect S352N CBS_c.1673_1677del commonName 1673del5 CBS_c.1673_1677del protEffect n.d. CBS_c.1471C>T commonName 1471 C>T CBS_c.1471C>T protEffect R491C CBS_c.1082C>T commonName 1082 T>C CBS_c.1082C>T protEffect A361V CBS_c.1221delC commonName 1221delC CBS_c.1221delC protEffect W408fsX423 CBS_g.21942_22040del commonName IVS11+39del99 CBS_g.21942_22040del protEffect n.d. CBS_g.22072_22120del commonName IVS11-89del49 CBS_g.22072_22120del protEffect n.d. CBS_c.1170G>A commonName 1170 G>A CBS_c.1170G>A protEffect W390X CBS_c.1259C>G commonName 1259C>G CBS_c.1259C>G protEffect S420X CBS_c.1265C>T commonName 1265 C>T CBS_c.1265C>T protEffect P422L CBS_c.1146_1223del commonName 1146 del 78 CBS_c.1146_1223del protEffect del ex 11 CBS_g.20700C>T commonName IVS10+7 C>T CBS_g.20700C>T protEffect n.d. CBS_c.1286_1288delTCA commonName 1286_1288delTCA CBS_c.1286_1288delTCA protEffect I429del,fs CBS_g.20694G>A commonName IVS11+1G>A CBS_g.20694G>A protEffect del aa382-407 CBS_c.1301C>A commonName 1301 C>A CBS_c.1301C>A protEffect T434N CBS_c.1304T>C commonName 1304T>C CBS_c.1304T>C protEffect I435T CBS_c.1336G>T commonName 1336 G>T CBS_c.1336G>T protEffect A446S CBS_c.1109G>A commonName 1109 G>A CBS_c.1109G>A protEffect C370Y CBS_c.1126G>A commonName 1126 G>A CBS_c.1126G>A protEffect D376N CBS_c.1397C>T commonName 1397C>T CBS_c.1397C>T protEffect S466L CBS_c.1173G>T commonName 1173 G>T CBS_c.1173G>T protEffect M391I CBS_c.103G>A;129G>A commonName 103G>A; 129G>A CBS_c.103G>A;129G>A protEffect D35N; W43X CBS_c.415G>A commonName 415 G>A CBS_c.415G>A protEffect G139R CBS_c.434C>T commonName 434 C>T CBS_c.434C>T protEffect P145L CBS_c.443G>A commonName 443 G>A CBS_c.443G>A protEffect G148E CBS_c.452_531del commonName 452del 80 CBS_c.452_531del protEffect del ex 4 CBS_c.461T>A commonName 461 T>A CBS_c.461T>A protEffect L154Q CBS_c.464C>T commonName 464C>T CBS_c.464C>T protEffect A155V CBS_c.469G>C commonName 469 G>C CBS_c.469G>C protEffect A157P CBS_c.493_514del commonName 493del22 CBS_c.493_514del protEffect fs,del aa 165-172 CBS_c.503T>C commonName 503 T>C CBS_c.503T>C protEffect V168A CBS_c.393G>C commonName 393 G>C CBS_c.393G>C protEffect E131D CBS_c.384G>C commonName 384 G>C CBS_c.384G>C protEffect E128D CBS_c.153_209del commonName del bp 153-209 CBS_c.153_209del protEffect del aa 52-70 CBS_c.172C>T commonName 172 C>T CBS_c.172C>T protEffect R58W CBS_c.194A>C commonName 194 A>C CBS_c.194A>C protEffect H65R CBS_g.9152_9153ins commonName IVS1+1insC CBS_g.9152_9153ins protEffect del ex 1 (?) CBS_c.260C>A commonName 260 C>A CBS_c.260C>A protEffect T87N CBS_c.306G>C commonName 306 G>C CBS_c.306G>C protEffect K102N CBS_c.313C>G commonName 313 C>G CBS_c.313C>G protEffect 313del4, fs CBS_c.374G>C commonName 374 G>C CBS_c.374G>C protEffect R125P CBS_c.376A>G commonName 376 A>G CBS_c.376A>G protEffect M126V CBS_g.16373_17168del commonName IVS4-38del796 CBS_g.16373_17168del protEffect V178GfsX23 CBS_g.15585_15613del commonName IVS4-31del 29 CBS_g.15585_15613del protEffect del ex 5 CBS_c.796A>G commonName 796A>G CBS_c.796A>G protEffect R266G CBS_c.808_810del commonName 808del3 CBS_c.808_810del protEffect del E270 CBS_g.17239G>A commonName IVS7+1 G>A CBS_g.17239G>A protEffect 828ins104, 737del92 CBS_c.833T>G commonName 833 T>G CBS_c.833T>G protEffect I278S CBS_c.869C>T commonName 869 C>T CBS_c.869C>T protEffect P290L CBS_c.913G>A commonName 913 G>A CBS_c.913G>A protEffect G305R CBS_c.593A>T commonName 593 A>T CBS_c.593A>T protEffect D198V CBS_c.955_1039del commonName 955del85 CBS_c.955_1039del protEffect del ex 9 CBS_c.962A>T commonName 962 A>T CBS_c.962A>T protEffect D321V CBS_c.992C>A commonName 992 C>A CBS_c.992C>A protEffect A331E CBS_c.785C>G commonName 785 C>G CBS_c.785C>G protEffect T262R CBS_c.775G>A commonName 775 G>A CBS_c.775G>A protEffect G259S CBS_c.539T>C commonName 539 T>C CBS_c.539T>C protEffect V180A CBS_c.599C>T commonName 599 C>T CBS_c.599C>T protEffect P200L CBS_c.650C>T commonName 650 C>T CBS_c.650C>T protEffect S217F CBS_c.671G>A commonName 671 G>A CBS_c.671G>A protEffect R224H CBS_c.684C>G commonName 684 C>G CBS_c.684C>G protEffect N228K CBS_c.727C>T commonName 727 C>T CBS_c.727C>T protEffect Q243X CBS_g.17146G>C commonName IVS6-1 G>C CBS_g.17146G>C protEffect n.d. CBS_c.739_768del commonName 739del 30 CBS_c.739_768del protEffect del aa 247-256 CBS_c.740_764del commonName 740del25 CBS_c.740_764del protEffect del aa 247-255 CBS_c.361C>A commonName 361 C>A CBS_c.361C>A protEffect R121S CBS_c.992C>T commonName 992 C>T CBS_c.992C>T protEffect A331V CASRdb_c.2788delC commonName Q930del/fsX938 CASRdb_c.2788delC protEffect Q930del/fsX938 CASRdb_c.2788delC phenoCommon ADH CASRdb_c.1061A>C commonName E354A CASRdb_c.1061A>C protEffect E354A CASRdb_c.1061A>C phenoCommon IE CASRdb_c.1256A>G commonName N419S CASRdb_c.1256A>G protEffect N419S CASRdb_c.1256A>G phenoCommon ADH CASRdb_c.141A>C commonName K47N CASRdb_c.141A>C protEffect K47N CASRdb_c.141A>C phenoCommon ADH CASRdb_c.1666G>A commonName E556K CASRdb_c.1666G>A protEffect E556K CASRdb_c.1666G>A phenoCommon ADH CASRdb_c.1693T>G commonName C565G CASRdb_c.1693T>G protEffect C565G CASRdb_c.1693T>G phenoCommon ADH CASRdb_c.1765T>C commonName F589L CASRdb_c.1765T>C protEffect F589L CASRdb_c.1765T>C phenoCommon ADH CASRdb_c.1810G>A commonName E604K CASRdb_c.1810G>A protEffect E604K CASRdb_c.1810G>A phenoCommon ADH CASRdb_c.1829A>G commonName E610G CASRdb_c.1829A>G protEffect E610G CASRdb_c.1829A>G phenoCommon ADH CASRdb_c.1835T>C commonName F612S CASRdb_c.1835T>C protEffect F612S CASRdb_c.1835T>C phenoCommon ADH CASRdb_c.2043G>T commonName Q681H CASRdb_c.2043G>T protEffect Q681H CASRdb_c.2043G>T phenoCommon ADH CASRdb_c.2056A>G commonName I686V CASRdb_c.2056A>G protEffect I686V CASRdb_c.2056A>G phenoCommon IE CASRdb_c.2180T>A commonName L727Q CASRdb_c.2180T>A protEffect L727Q CASRdb_c.2180T>A phenoCommon ADH CASRdb_c.2299G>A commonName E767K CASRdb_c.2299G>A protEffect E767K CASRdb_c.2299G>A phenoCommon ADH CASRdb_c.2318T>G commonName L773R CASRdb_c.2318T>G protEffect L773R CASRdb_c.2318T>G phenoCommon ADH CASRdb_c.2362T>C commonName F788L CASRdb_c.2362T>C protEffect F788L CASRdb_c.2362T>C phenoCommon ADH CASRdb_c.2363T>G commonName F788C CASRdb_c.2363T>G protEffect F788C CASRdb_c.2363T>G phenoCommon ADH CASRdb_c.2395G>A commonName E799K CASRdb_c.2395G>A protEffect E799K CASRdb_c.2395G>A phenoCommon ADH CASRdb_c.2405A>T commonName N802I CASRdb_c.2405A>T protEffect N802I CASRdb_c.2405A>T phenoCommon ADH CASRdb_c.2417T>C commonName F806S CASRdb_c.2417T>C protEffect F806S CASRdb_c.2417T>C phenoCommon ADH CASRdb_c.2431A>G commonName M811V CASRdb_c.2431A>G protEffect M811V CASRdb_c.2431A>G phenoCommon ADH CASRdb_c.2459C>G commonName S820F CASRdb_c.2459C>G protEffect S820F CASRdb_c.2459C>G phenoCommon ADH CASRdb_c.2461T>C commonName F821L CASRdb_c.2461T>C protEffect F821L CASRdb_c.2461T>C phenoCommon ADH CASRdb_c.2470G>T commonName A824S CASRdb_c.2470G>T protEffect A824S CASRdb_c.2470G>T phenoCommon ADH CASRdb_c.2483C>A commonName T828N CASRdb_c.2483C>A protEffect T828N CASRdb_c.2483C>A phenoCommon ADH CASRdb_c.2488G>A commonName G830S CASRdb_c.2488G>A protEffect G830S CASRdb_c.2488G>A phenoCommon ADH CASRdb_c.2494T>C commonName F832L CASRdb_c.2494T>C protEffect F832L CASRdb_c.2494T>C phenoCommon ADH CASRdb_c.2495T>C commonName F832S CASRdb_c.2495T>C protEffect F832S CASRdb_c.2495T>C phenoCommon ADH CASRdb_c.2503G>A commonName A835T CASRdb_c.2503G>A protEffect A835T CASRdb_c.2503G>A phenoCommon ADH CASRdb_c.2506G>C commonName V836L CASRdb_c.2506G>C protEffect V836L CASRdb_c.2506G>C phenoCommon ADH CASRdb_c.2528C>A commonName A843E CASRdb_c.2528C>A protEffect A843E CASRdb_c.2528C>A phenoCommon ADH CASRdb_c.2530G>A commonName A844T CASRdb_c.2530G>A protEffect A844T CASRdb_c.2530G>A phenoCommon ADH CASRdb_c.2534G>A commonName S845N CASRdb_c.2534G>A protEffect S845N CASRdb_c.2534G>A phenoCommon ADH CASRdb_c.2682_3224del542 commonName S895_V1075del CASRdb_c.2682_3224del542 protEffect S895_V1075del CASRdb_c.2682_3224del542 phenoCommon ADH CASRdb_c.2691_2692insG commonName K897ins/fsX979 CASRdb_c.2691_2692insG protEffect K897ins/fsX979 CASRdb_c.2691_2692insG phenoCommon ADH CASRdb_c.2693G>A commonName R898Q CASRdb_c.2693G>A protEffect R898Q CASRdb_c.2693G>A phenoCommon IE CASRdb_c.2824G>A commonName E942K CASRdb_c.2824G>A protEffect E942K CASRdb_c.2824G>A phenoCommon ADH CASRdb_c.2963C>G commonName A988G CASRdb_c.2963C>G protEffect A988G CASRdb_c.2963C>G phenoCommon IE CASRdb_c.2968A>G commonName R990G CASRdb_c.2968A>G protEffect R990G CASRdb_c.2980C>T commonName H994Y CASRdb_c.2980C>T protEffect H994Y CASRdb_c.2980C>T phenoCommon IH CASRdb_c.346G>A commonName A116T CASRdb_c.346G>A protEffect A116T CASRdb_c.346G>A phenoCommon ADH CASRdb_c.346G>C commonName A116P CASRdb_c.346G>C protEffect A116P CASRdb_c.346G>C phenoCommon ADH CASRdb_c.354C>A commonName N118K CASRdb_c.354C>A protEffect N118K CASRdb_c.354C>A phenoCommon ADH CASRdb_c.354C>G commonName N118K CASRdb_c.354C>G protEffect N118K CASRdb_c.354C>G phenoCommon ADH CASRdb_c.372C>A commonName N124K CASRdb_c.372C>A protEffect N124K CASRdb_c.372C>A phenoCommon ADH CASRdb_c.373C>T commonName L125F CASRdb_c.373C>T protEffect L125F CASRdb_c.373C>T phenoCommon ADH CASRdb_c.374T>C commonName L125P CASRdb_c.374T>C protEffect L125P CASRdb_c.374T>C phenoCommon ADH CASRdb_c.379G>A commonName E127K CASRdb_c.379G>A protEffect E127K CASRdb_c.379G>A phenoCommon ADH CASRdb_c.380A>C commonName E127A CASRdb_c.380A>C protEffect E127A CASRdb_c.380A>C phenoCommon ADH CASRdb_c.380A>G commonName E127G CASRdb_c.380A>G protEffect E127G CASRdb_c.380A>G phenoCommon ADH CASRdb_c.382T>C commonName F128L CASRdb_c.382T>C protEffect F128L CASRdb_c.382T>C phenoCommon ADH CASRdb_c.385T>A commonName C129S CASRdb_c.385T>A protEffect C129S CASRdb_c.385T>A phenoCommon ADH CASRdb_c.385T>C commonName C129R CASRdb_c.385T>C protEffect C129R CASRdb_c.385T>C phenoCommon ADH CASRdb_c.386G>A commonName C129Y CASRdb_c.386G>A protEffect C129Y CASRdb_c.386G>A phenoCommon ADH CASRdb_c.386G>T commonName C129F CASRdb_c.386G>T protEffect C129F CASRdb_c.386G>T phenoCommon ADH CASRdb_c.392G>A commonName C131Y CASRdb_c.392G>A protEffect C131Y CASRdb_c.392G>A phenoCommon ADH CASRdb_c.392G>T commonName C131F CASRdb_c.392G>T protEffect C131F CASRdb_c.392G>T phenoCommon ADH CASRdb_c.393C>G commonName C131W CASRdb_c.393C>G protEffect C131W CASRdb_c.393C>G phenoCommon ADH CASRdb_c.452C>G commonName T151R CASRdb_c.452C>G protEffect T151R CASRdb_c.452C>G phenoCommon ADH CASRdb_c.452C>T commonName T151M CASRdb_c.452C>T protEffect T151M CASRdb_c.452C>T phenoCommon ADH CASRdb_c.571G>A commonName E191K CASRdb_c.571G>A protEffect E191K CASRdb_c.571G>A phenoCommon ADH CASRdb_c.662C>T commonName P221L CASRdb_c.662C>T protEffect P221L CASRdb_c.662C>T phenoCommon ADH CASRdb_c.682G>A commonName E228K CASRdb_c.682G>A protEffect E228K CASRdb_c.682G>A phenoCommon ADH CASRdb_c.682G>C commonName E228Q CASRdb_c.682G>C protEffect E228Q CASRdb_c.682G>C phenoCommon ADH CASRdb_c.721G>A commonName E241K CASRdb_c.721G>A protEffect E241K CASRdb_c.721G>A phenoCommon ADH CASRdb_c.734A>G commonName Q245R CASRdb_c.734A>G protEffect Q245R CASRdb_c.734A>G phenoCommon ADH CASRdb_c.85A>G commonName K29E CASRdb_c.85A>G protEffect K29E CASRdb_c.85A>G phenoCommon ADH CASRdb_c.891G>C commonName E297D CASRdb_c.891G>C protEffect E297D CASRdb_c.891G>C phenoCommon ADH CASRdb_c1846C>G commonName L616V CASRdb_c1846C>G protEffect L616V CASRdb_c1846C>G phenoCommon ADH/Poly? CASRdb_c.653A>G commonName Y218C CASRdb_c.653A>G protEffect Y218C CASRdb_c.653A>G phenoCommon FHH CASRdb_c.1006_1008delAAG commonName K335_V337del CASRdb_c.1006_1008delAAG protEffect K335_V337del CASRdb_c.1006_1008delAAG phenoCommon FIHP CASRdb_c.1015C>A commonName P339T CASRdb_c.1015C>A protEffect P339T CASRdb_c.1015C>A phenoCommon FHH CASRdb_c.1031_1034delinsT commonName (H344-N345)L CASRdb_c.1031_1034delinsT protEffect (H344-N345)L CASRdb_c.1031_1034delinsT phenoCommon NSHPT CASRdb_c.1051T>G commonName F351V CASRdb_c.1051T>G protEffect F351V CASRdb_c.1051T>G phenoCommon FHH CASRdb_c.1056G>A commonName W352X CASRdb_c.1056G>A protEffect W352X CASRdb_c.1056G>A phenoCommon FHH CASRdb_c.115C>G commonName P39A CASRdb_c.115C>G protEffect P39A CASRdb_c.115C>G phenoCommon FHH/NSHPT CASRdb_c.1174C>T commonName R392X CASRdb_c.1174C>T protEffect R392X CASRdb_c.1174C>T phenoCommon NSHPT CASRdb_c.1183T>C commonName C395R CASRdb_c.1183T>C protEffect C395R CASRdb_c.1183T>C phenoCommon FHH CASRdb_c.1189G>A commonName G397R CASRdb_c.1189G>A protEffect G397R CASRdb_c.1189G>A phenoCommon FHH CASRdb_c.125T>G commonName F42S CASRdb_c.125T>G protEffect F42S CASRdb_c.125T>G phenoCommon FHH CASRdb_c.1280T>G commonName I427S CASRdb_c.1280T>G protEffect I427S CASRdb_c.1280T>G phenoCommon TCP CASRdb_c.1297G>C commonName D433H CASRdb_c.1297G>C protEffect D433H CASRdb_c.1297G>C phenoCommon TCP CASRdb_c.1333A>G commonName T445A CASRdb_c.1333A>G protEffect T445A CASRdb_c.1378-19A>C commonName -19A>C CASRdb_c.1378-19A>C protEffect -19A>C CASRdb_c.1378-19A>C phenoCommon FHH CASRdb_c.1393C>T commonName R465W CASRdb_c.1393C>T protEffect R465W CASRdb_c.1393C>T phenoCommon FHH CASRdb_c.1394G>A commonName R465Q CASRdb_c.1394G>A protEffect R465Q CASRdb_c.1394G>A phenoCommon FHH CASRdb_c.1430T>C commonName V477A CASRdb_c.1430T>C protEffect V477A CASRdb_c.1430T>C phenoCommon TCP CASRdb_c.1525G>A commonName G509R CASRdb_c.1525G>A protEffect G509R CASRdb_c.1525G>A phenoCommon FHH CASRdb_c.157T>C commonName S53P CASRdb_c.157T>C protEffect S53P CASRdb_c.157T>C phenoCommon FHH CASRdb_c.1588T>G commonName W530G CASRdb_c.1588T>G protEffect W530G CASRdb_c.1588T>G phenoCommon FHH CASRdb_c.1645G>A commonName G549R CASRdb_c.1645G>A protEffect G549R CASRdb_c.1645G>A phenoCommon FHH CASRdb_c.164C>T commonName P55L CASRdb_c.164C>T protEffect P55L CASRdb_c.164C>T phenoCommon FHH CASRdb_c.1652G>A commonName R551K CASRdb_c.1652G>A protEffect R551K CASRdb_c.1652G>A phenoCommon NSHPT CASRdb_c.1657G>A commonName G553R CASRdb_c.1657G>A protEffect G553R CASRdb_c.1657G>A phenoCommon FHH CASRdb_c.1663A>G commonName I555V CASRdb_c.1663A>G protEffect I555V CASRdb_c.1663A>G phenoCommon FHH CASRdb_c.1670G>A commonName G557E CASRdb_c.1670G>A protEffect G557E CASRdb_c.1670G>A phenoCommon FHH CASRdb_c.1685G>A commonName C562Y CASRdb_c.1685G>A protEffect C562Y CASRdb_c.1685G>A phenoCommon FHH CASRdb_c.1703G>A commonName C568Y CASRdb_c.1703G>A protEffect C568Y CASRdb_c.1703G>A phenoCommon FHH CASRdb_c.1719T>A commonName Y573X CASRdb_c.1719T>A protEffect Y573X CASRdb_c.1719T>A phenoCommon FHH CASRdb_c.1745G>A commonName C582Y CASRdb_c.1745G>A protEffect C582Y CASRdb_c.1745G>A phenoCommon FHH CASRdb_c.1745G>T commonName C582F CASRdb_c.1745G>T protEffect C582F CASRdb_c.1745G>T phenoCommon FHH CASRdb_c.1746_1747insT commonName N583X CASRdb_c.1746_1747insT protEffect N583X CASRdb_c.1746_1747insT phenoCommon FHH CASRdb_c.1772C>G commonName S591C CASRdb_c.1772C>G protEffect S591C CASRdb_c.1772C>G phenoCommon NSHPT CASRdb_c.1783C>T commonName H595Y CASRdb_c.1783C>T protEffect H595Y CASRdb_c.1783C>T phenoCommon FHH CASRdb_c.179G>T commonName C60F CASRdb_c.179G>T protEffect C60F CASRdb_c.179G>T phenoCommon NSHPT CASRdb_c.1820C>A commonName S607X CASRdb_c.1820C>A protEffect S607X CASRdb_c.1820C>A phenoCommon FHH CASRdb_c.185G>T commonName R62M CASRdb_c.185G>T protEffect R62M CASRdb_c.185G>T phenoCommon FHH/NSHPT CASRdb_c.1868G>A commonName G623D CASRdb_c.1868G>A protEffect G623D CASRdb_c.1868G>A phenoCommon FHH CASRdb_c.1913G>T commonName R638L CASRdb_c.1913G>T protEffect R638L CASRdb_c.1913G>T phenoCommon FHH/NSHPT CASRdb_c.1942C>T commonName R648X CASRdb_c.1942C>T protEffect R648X CASRdb_c.1942C>T phenoCommon FHH CASRdb_c.1949T>C commonName L650P CASRdb_c.1949T>C protEffect L650P CASRdb_c.1949T>C phenoCommon FIHP CASRdb_c.196C>T commonName R66C CASRdb_c.196C>T protEffect R66C CASRdb_c.196C>T phenoCommon FHH/NSHPT CASRdb_c.1970C>A commonName S657Y CASRdb_c.1970C>A protEffect S657Y CASRdb_c.1970C>A phenoCommon FHH CASRdb_c.197G>A commonName R66H CASRdb_c.197G>A protEffect R66H CASRdb_c.197G>A phenoCommon NSHPT CASRdb_c.1982G>A commonName C661Y CASRdb_c.1982G>A protEffect C661Y CASRdb_c.1982G>A phenoCommon FHH CASRdb_c.1997T>C commonName L666P CASRdb_c.1997T>C protEffect L666P CASRdb_c.1997T>C phenoCommon FHH CASRdb_c.1997_1998insT commonName L666ins/fsX707 CASRdb_c.1997_1998insT protEffect L666ins/fsX707 CASRdb_c.1997_1998insT phenoCommon FHH CASRdb_c.19_20insT commonName C7ins/fsX47 CASRdb_c.19_20insT protEffect C7ins/fsX47 CASRdb_c.19_20insT phenoCommon FHH CASRdb_c.2008G>A commonName G670R CASRdb_c.2008G>A protEffect G670R CASRdb_c.2008G>A phenoCommon FHH CASRdb_c.2009G>A commonName G670E CASRdb_c.2009G>A protEffect G670E CASRdb_c.2009G>A phenoCommon FHH/NSHPT CASRdb_c.2038C>T commonName R680C CASRdb_c.2038C>T protEffect R680C CASRdb_c.2038C>T phenoCommon FHH CASRdb_c.2039G>A commonName R680H CASRdb_c.2039G>A protEffect R680H CASRdb_c.2039G>A phenoCommon FHH CASRdb_c.2065G>A commonName V689M CASRdb_c.2065G>A protEffect V689M CASRdb_c.2065G>A phenoCommon FIHP CASRdb_c.206G>A commonName R69H CASRdb_c.206G>A protEffect R69H CASRdb_c.206G>A phenoCommon FHH CASRdb_c.2154G>A commonName W718X CASRdb_c.2154G>A protEffect W718X CASRdb_c.2154G>A phenoCommon FHH CASRdb_c.2182G>A commonName V728I CASRdb_c.2182G>A protEffect V728I CASRdb_c.2182G>A phenoCommon FHH CASRdb_c.2201T>G commonName M734R CASRdb_c.2201T>G protEffect M734R CASRdb_c.2201T>G phenoCommon FHH CASRdb_c.2224T>C commonName W742R CASRdb_c.2224T>C protEffect W742R CASRdb_c.2224T>C phenoCommon FHH CASRdb_c.2240_2241delCCinsT commonName P747ins/fsX776 CASRdb_c.2240_2241delCCinsT protEffect P747ins/fsX776 CASRdb_c.2240_2241delCCinsT phenoCommon NSHPT CASRdb_c.2243C>A commonName P748H CASRdb_c.2243C>A protEffect P748H CASRdb_c.2243C>A phenoCommon FHH CASRdb_c.2243C>G commonName P748R CASRdb_c.2243C>G protEffect P748R CASRdb_c.2243C>G phenoCommon FHH CASRdb_c.2243C>T commonName P748L CASRdb_c.2243C>T protEffect P748L CASRdb_c.2243C>T phenoCommon FHH CASRdb_c.2265G>T commonName E755D CASRdb_c.2265G>T protEffect E755D CASRdb_c.2281_2283delATC commonName I761del CASRdb_c.2281_2283delATC protEffect I761del CASRdb_c.2281_2283delATC phenoCommon FHH CASRdb_c.2295C>G commonName C765W CASRdb_c.2295C>G protEffect C765W CASRdb_c.2295C>G phenoCommon FHH CASRdb_c.2333G>A commonName G778D CASRdb_c.2333G>A protEffect G778D CASRdb_c.2333G>A phenoCommon FHH CASRdb_c.2383C>T commonName R795W CASRdb_c.2383C>T protEffect R795W CASRdb_c.2383C>T phenoCommon FHH CASRdb_c.2383delC commonName R795Gdel/fsX836 CASRdb_c.2383delC protEffect R795Gdel/fsX836 CASRdb_c.2383delC phenoCommon FHH CASRdb_c.2392C>A commonName P798T CASRdb_c.2392C>A protEffect P798T CASRdb_c.2392C>A phenoCommon FHH CASRdb_c.2411C>A commonName A804D CASRdb_c.2411C>A protEffect A804D CASRdb_c.2411C>A phenoCommon FHH/NSHPT CASRdb_c.2427C>G commonName F809L CASRdb_c.2427C>G protEffect F809L CASRdb_c.2427C>G phenoCommon FHH CASRdb_c.243A>G commonName I81M CASRdb_c.243A>G protEffect I81M CASRdb_c.243A>G phenoCommon FHH CASRdb_c.2449G>A commonName V817I CASRdb_c.2449G>A protEffect V817I CASRdb_c.2449G>A phenoCommon FHH CASRdb_c.2476G>A commonName A826T CASRdb_c.2476G>A protEffect A826T CASRdb_c.2495T>G commonName F832S CASRdb_c.2495T>G protEffect F832S CASRdb_c.2495T>G phenoCommon FHH CASRdb_c.2501delC commonName S834del/fsX836 CASRdb_c.2501delC protEffect S834del/fsX836 CASRdb_c.2501delC phenoCommon FHH CASRdb_c.2546T>C commonName L849P CASRdb_c.2546T>C protEffect L849P CASRdb_c.2546T>C phenoCommon FHH CASRdb_c.2550_2551insCCAG commonName A850ins/fsX981 CASRdb_c.2550_2551insCCAG protEffect A850ins/fsX981 CASRdb_c.2550_2551insCCAG phenoCommon FHH CASRdb_c.2551T>A commonName C851S CASRdb_c.2551T>A protEffect C851S CASRdb_c.2627_2628insAlu commonName T876 Alu ins CASRdb_c.2627_2628insAlu protEffect T876 Alu ins CASRdb_c.2627_2628insAlu phenoCommon FHH/NSHPT CASRdb_c.2641T>C commonName F881L CASRdb_c.2641T>C protEffect F881L CASRdb_c.2641T>C phenoCommon FHH CASRdb_c.2656C>T commonName R886W CASRdb_c.2656C>T protEffect R886W CASRdb_c.2656C>T phenoCommon FHH CASRdb_c.2657G>C commonName R886P CASRdb_c.2657G>C protEffect R886P CASRdb_c.2657G>C phenoCommon FIHP CASRdb_c.2687G>A commonName R896H CASRdb_c.2687G>A protEffect R896H CASRdb_c.2687G>A phenoCommon FHH CASRdb_c.2777A>G commonName Q926R CASRdb_c.2777A>G protEffect Q926R CASRdb_c.2777A>G phenoCommon FHH CASRdb_c.280G>C commonName G94R CASRdb_c.280G>C protEffect G94R CASRdb_c.280G>C phenoCommon FHH CASRdb_c.280G>T commonName G94X CASRdb_c.280G>T protEffect G94X CASRdb_c.280G>T phenoCommon NSHPT CASRdb_c.2956G>T commonName A986S CASRdb_c.2956G>T protEffect A986S CASRdb_c.299C>T commonName T100I CASRdb_c.299C>T protEffect T100I CASRdb_c.299C>T phenoCommon FIHP CASRdb_c.2T>G commonName M1R CASRdb_c.2T>G protEffect M1R CASRdb_c.2T>G phenoCommon FHH/NSHPT CASRdb_c.3013G>A commonName D1005N CASRdb_c.3013G>A protEffect D1005N CASRdb_c.3013G>A phenoCommon FHH CASRdb_c.3031C>G commonName Q1011E CASRdb_c.3031C>G protEffect Q1011E CASRdb_c.3235T>C commonName X1079QextX1087 CASRdb_c.3235T>C protEffect X1079QextX1087 CASRdb_c.3235T>C phenoCommon FHH CASRdb_c.32T>C commonName L11S CASRdb_c.32T>C protEffect L11S CASRdb_c.32T>C phenoCommon FHH CASRdb_c.38T>C commonName L13P CASRdb_c.38T>C protEffect L13P CASRdb_c.38T>C phenoCommon FHH CASRdb_c.409T>C commonName S137P CASRdb_c.409T>C protEffect S137P CASRdb_c.409T>C phenoCommon FHH CASRdb_c.40A>G commonName T14A CASRdb_c.40A>G protEffect T14A CASRdb_c.413C>T commonName T138M CASRdb_c.413C>T protEffect T138M CASRdb_c.413C>T phenoCommon FHH CASRdb_c.427G>C commonName G143R CASRdb_c.427G>C protEffect G143R CASRdb_c.427G>C phenoCommon FHH CASRdb_c.428G>A commonName G143E CASRdb_c.428G>A protEffect G143E CASRdb_c.428G>A phenoCommon FHH CASRdb_c.472G>C commonName G158R CASRdb_c.472G>C protEffect G158R CASRdb_c.472G>C phenoCommon FHH CASRdb_c.476T>C commonName L159P CASRdb_c.476T>C protEffect L159P CASRdb_c.476T>C phenoCommon FIHP CASRdb_c.482A>G commonName Y161C CASRdb_c.482A>G protEffect Y161C CASRdb_c.482A>G phenoCommon NSHPT CASRdb_c.488C>G commonName P163R CASRdb_c.488C>G protEffect P163R CASRdb_c.488C>G phenoCommon TCP CASRdb_c.490C>T commonName Q164X CASRdb_c.490C>T protEffect Q164X CASRdb_c.490C>T phenoCommon NSHPT CASRdb_c.492+1G>C commonName +1g>c CASRdb_c.492+1G>C protEffect +1g>c CASRdb_c.492+1G>C phenoCommon FHH CASRdb_c.493-1G>T commonName -1g>t CASRdb_c.493-1G>T protEffect -1g>t CASRdb_c.493-1G>T phenoCommon FHH/NSHPT CASRdb_c.496A>G commonName S166G CASRdb_c.496A>G protEffect S166G CASRdb_c.496A>G phenoCommon FHH CASRdb_c.512G>A commonName S171N CASRdb_c.512G>A protEffect S171N CASRdb_c.512G>A phenoCommon FHH CASRdb_c.514A>G commonName R172G CASRdb_c.514A>G protEffect R172G CASRdb_c.514A>G phenoCommon FHH CASRdb_c.518T>C commonName L173P CASRdb_c.518T>C protEffect L173P CASRdb_c.518T>C phenoCommon FHH CASRdb_c.521T>G commonName L174R CASRdb_c.521T>G protEffect L174R CASRdb_c.521T>G phenoCommon FHH CASRdb_c.532A>G commonName N178D CASRdb_c.532A>G protEffect N178D CASRdb_c.532A>G phenoCommon FHH CASRdb_c.539T>G commonName F180C CASRdb_c.539T>G protEffect F180C CASRdb_c.539T>G phenoCommon FHH CASRdb_c.553C>T commonName R185X CASRdb_c.553C>T protEffect R185X CASRdb_c.553C>T phenoCommon FHH/NSHPT CASRdb_c.554G>A commonName R185Q CASRdb_c.554G>A protEffect R185Q CASRdb_c.554G>A phenoCommon FHH CASRdb_c.570delT commonName D190EfsX154 CASRdb_c.570delT protEffect D190EfsX154 CASRdb_c.570delT phenoCommon NSHPT CASRdb_c.580G>A commonName A194T CASRdb_c.580G>A protEffect A194T CASRdb_c.580G>A phenoCommon FHH CASRdb_c.60C>T commonName Y20H CASRdb_c.60C>T protEffect Y20H CASRdb_c.61G>C commonName G21R CASRdb_c.61G>C protEffect G21R CASRdb_c.61G>C phenoCommon FHH CASRdb_c.623G>C commonName W208S CASRdb_c.623G>C protEffect W208S CASRdb_c.623G>C phenoCommon FHH CASRdb_c.635T>C commonName I212T CASRdb_c.635T>C protEffect I212T CASRdb_c.635T>C phenoCommon FHH CASRdb_c.635T>G commonName I212S CASRdb_c.635T>G protEffect I212S CASRdb_c.635T>G phenoCommon NSHPT CASRdb_c.644A>G commonName D215G CASRdb_c.644A>G protEffect D215G CASRdb_c.644A>G phenoCommon FHH CASRdb_c.653A>C commonName Y218S CASRdb_c.653A>C protEffect Y218S CASRdb_c.653A>C phenoCommon FHH CASRdb_c.658C>T commonName R220W CASRdb_c.658C>T protEffect R220W CASRdb_c.658C>T phenoCommon FHH CASRdb_c.659G>A commonName R220Q CASRdb_c.659G>A protEffect R220Q CASRdb_c.659G>A phenoCommon FHH CASRdb_c.659G>C commonName R220P CASRdb_c.659G>C protEffect R220P CASRdb_c.659G>C phenoCommon FHH CASRdb_c.661C>T commonName P221S CASRdb_c.661C>T protEffect P221S CASRdb_c.661C>T phenoCommon FHH CASRdb_c.662C>A commonName P221Q CASRdb_c.662C>A protEffect P221Q CASRdb_c.662C>A phenoCommon FHH CASRdb_c.674A>C commonName K225T CASRdb_c.674A>C protEffect K225T CASRdb_c.674A>C phenoCommon FHH CASRdb_c.680G>A commonName R227Q CASRdb_c.680G>A protEffect R227Q CASRdb_c.680G>A phenoCommon FHH CASRdb_c.680G>T commonName R227L CASRdb_c.680G>T protEffect R227L CASRdb_c.680G>T phenoCommon NSHPT CASRdb_c.73C>T commonName R25X CASRdb_c.73C>T protEffect R25X CASRdb_c.73C>T phenoCommon FHH CASRdb_c.748G>A commonName E250K CASRdb_c.748G>A protEffect E250K CASRdb_c.748G>A phenoCommon FHH CASRdb_c.801_812del11 commonName V268del/fsX273 CASRdb_c.801_812del11 protEffect V268del/fsX273 CASRdb_c.801_812del11 phenoCommon FIHP CASRdb_c.80A>G commonName Q27R CASRdb_c.80A>G protEffect Q27R CASRdb_c.80A>G phenoCommon NSHPT CASRdb_c.812C>T commonName S271F CASRdb_c.812C>T protEffect S271F CASRdb_c.812C>T phenoCommon FHH CASRdb_c.820C>T commonName P274S CASRdb_c.820C>T protEffect P274S CASRdb_c.848T>C commonName I283T CASRdb_c.848T>C protEffect I283T CASRdb_c.848T>C phenoCommon PHPT CASRdb_c.853C>T commonName R285W CASRdb_c.853C>T protEffect R285W CASRdb_c.883G>A commonName A295T CASRdb_c.883G>A protEffect A295T CASRdb_c.883G>A phenoCommon FHH CASRdb_c.887G>A commonName S296N CASRdb_c.887G>A protEffect S296N CASRdb_c.887G>A phenoCommon FHH CASRdb_c.889G>A commonName E297K CASRdb_c.889G>A protEffect E297K CASRdb_c.889G>A phenoCommon FHH CASRdb_c.961G>C commonName A321P CASRdb_c.961G>C protEffect A321P CASRdb_c.961G>C phenoCommon FHH CASRdb_c.967A>T commonName K323X CASRdb_c.967A>T protEffect K323X CASRdb_c.967A>T phenoCommon FHH HIFD_KRT10:c.467G>A commonName c.467G>A HIFD_KRT10:c.467G>A protEffect p.Arg156His HIFD_KRT10:c.467G>A phenoCommon BCIE/EHK HIFD_KRT10:c.482T>C commonName c.482T>C HIFD_KRT10:c.482T>C protEffect p.Leu161Ser HIFD_KRT10:c.482T>C phenoCommon BCIE/EHK HIFD_KRT10:c.467G>C commonName c.467G>C HIFD_KRT10:c.467G>C protEffect p.Arg156Pro HIFD_KRT10:c.467G>C phenoCommon BCIE/EHK HIFD_KRT10:c.466C>A commonName c.466C>A HIFD_KRT10:c.466C>A protEffect p.Arg156Ser HIFD_KRT10:c.466C>A phenoCommon BCIE/EHK HIFD_KRT10:c.466C>T commonName c.466C>T HIFD_KRT10:c.466C>T protEffect p.Arg156Cys HIFD_KRT10:c.466C>T phenoCommon BCIE/EHK HIFD_KRT10:c.460A>C commonName c.460A>C HIFD_KRT10:c.460A>C protEffect p.Asn154His HIFD_KRT10:c.460A>C phenoCommon BCIE/EHK HIFD_KRT10:c.478T>G commonName c.478T>G HIFD_KRT10:c.478T>G protEffect p.Tyr160Asp HIFD_KRT10:c.478T>G phenoCommon BCIE/EHK HIFD_KRT10:c.1325T>A commonName c.1325T>A HIFD_KRT10:c.1325T>A protEffect p.Leu442Gln HIFD_KRT10:c.1325T>A phenoCommon BCIE/EHK HIFD_KRT10:c.467G>T commonName c.467G>T HIFD_KRT10:c.467G>T protEffect p.Arg156Leu HIFD_KRT10:c.467G>T phenoCommon BCIE/EHK HIFD_KRT10:c.449T>G commonName c.449T>G HIFD_KRT10:c.449T>G protEffect p.Met150Arg HIFD_KRT10:c.449T>G phenoCommon BCIE/EHK HIFD_KRT10:c.1315A>G commonName c.1315A>G HIFD_KRT10:c.1315A>G protEffect p.Lys439Glu HIFD_KRT10:c.1315A>G phenoCommon BCIE/EHK HIFD_KRT10:c.449T>C commonName c.449T>C HIFD_KRT10:c.449T>C protEffect p.Met150Thr HIFD_KRT10:c.449T>C phenoCommon BCIE/EHK HIFD_KRT10:c.1264_1265delCGinsGA commonName c.1264_1265delCGinsGA HIFD_KRT10:c.1264_1265delCGinsGA protEffect p.Arg422Glu HIFD_KRT10:c.1264_1265delCGinsGA phenoCommon CIEH HIFD_KRT10:c.472G>C commonName c.472G>C HIFD_KRT10:c.472G>C protEffect p.Ala158Pro HIFD_KRT10:c.472G>C phenoCommon BCIE/EHK HIFD_KRT10:c.1337T>C commonName c.1337T>C HIFD_KRT10:c.1337T>C protEffect p.Ile446Thr HIFD_KRT10:c.1337T>C phenoCommon CIEH HIFD_KRT10:c.479A>C commonName c.479A>C HIFD_KRT10:c.479A>C protEffect p.Tyr160Ser HIFD_KRT10:c.479A>C phenoCommon BCIE/EHK HIFD_KRT10:c.1355T>C commonName c.1355T>C HIFD_KRT10:c.1355T>C protEffect p.Leu452Pro HIFD_KRT10:c.1355T>C phenoCommon BCIE/EHK HIFD_KRT10:c.465_466delCCinsAA commonName c.465_466delCCinsAA HIFD_KRT10:c.465_466delCCinsAA protEffect p.Asp155_Arg156delinsGluSer HIFD_KRT10:c.465_466delCCinsAA phenoCommon BCIE/EHK HIFD_KRT10:c.457C>G commonName c.457C>G HIFD_KRT10:c.457C>G protEffect p.Leu153Val HIFD_KRT10:c.457C>G phenoCommon BCIE/EHK HIFD_KRT10:c.466C>G commonName c.466C>G HIFD_KRT10:c.466C>G protEffect p.Arg156Gly HIFD_KRT10:c.466C>G phenoCommon BCIE/EHK HIFD_KRT10:c.1358T>C commonName c.1358T>C HIFD_KRT10:c.1358T>C protEffect p.Leu453Pro HIFD_KRT10:c.1358T>C phenoCommon BCIE/EHK HIFD_KRT10:c.481_486delTTGGAC commonName c.481_486delTTGGAC HIFD_KRT10:c.481_486delTTGGAC protEffect p.Leu161_Asp162del HIFD_KRT10:c.481_486delTTGGAC phenoCommon BCIE/EHK HIFD_KRT10:c.1300C>T commonName c.1300C>T HIFD_KRT10:c.1300C>T protEffect p.Gln434X HIFD_KRT10:c.1300C>T phenoCommon BCIE/EHK HIFD_KRT10:c.466C>T phenoCommon EPPK HIFD_KRT10:c.1281_1282delCCinsAA commonName c.1281_1282delCCinsAA HIFD_KRT10:c.1281_1282delCCinsAA protEffect p.Cys427X HIFD_KRT10:c.1281_1282delCCinsAA phenoCommon BCIE/EHK HIFD_KRT10:c.1340A>C commonName c.1340A>C HIFD_KRT10:c.1340A>C protEffect p.Gln447Pro HIFD_KRT10:c.1340A>C phenoCommon BCIE/EHK HIFD_KRT10:c.1314_1315insC commonName c.1314_1315insC HIFD_KRT10:c.1314_1315insC protEffect p.Lys439GlnfsX6 HIFD_KRT10:c.1314_1315insC phenoCommon BCIE/EHK HIFD_KRT10:c.1333G>A commonName c.1333G>A HIFD_KRT10:c.1333G>A protEffect p.Glu445Lys HIFD_KRT10:c.1333G>A phenoCommon BCIE/EHK HIFD_KRT10:c.1155+5G>A commonName c.1155+5G>A HIFD_KRT10:c.1155+5G>A protEffect p.= HIFD_KRT10:c.1155+5G>A phenoCommon BCIE/EHK HIFD_KRT10:c.1450_1451insC commonName c.1450_1451insC HIFD_KRT10:c.1450_1451insC protEffect p.Gly484ArgfsX97 HIFD_KRT10:c.1450_1451insC phenoCommon CRIE HIFD_KRT10:c.449T>C phenoCommon CIEH HIFD_KRT10:c.449T>G phenoCommon CIEH HIFD_KRT10:c.466C>T phenoCommon CIEH HIFD_KRT10:c.467G>A phenoCommon CIEH HIFD_KRT10:c.1300C>T phenoCommon CIEH HIFD_KRT10:c.1314_1315insC phenoCommon CIEH HIFD_KRT10:c.1346A>G commonName c.1346A>G HIFD_KRT10:c.1346A>G protEffect p.Tyr449Cys HIFD_KRT10:c.1346A>G phenoCommon CIEH HIFD_KRT10:c.1560_1561delCG commonName c.1560_1561delCG HIFD_KRT10:c.1560_1561delCG protEffect p.Gly521ProfsX59 HIFD_KRT10:c.1560_1561delCG phenoCommon CRIE HIFD_KRT10:c.376G>A commonName c.376G>A HIFD_KRT10:c.376G>A protEffect p.Gly126Ser HIFD_KRT10:c.376G>A phenoCommon CRIE HIFD_KRT10:c.1459C>T commonName c.1459C>T HIFD_KRT10:c.1459C>T protEffect p.His487Tyr HIFD_KRT10:c.1459C>T phenoCommon CRIE HIFD_complex_1 commonName c.[1468_1479delGGCCACGGCGGC; 1546_1551delGGAAGCinsT] HIFD_complex_1 protEffect p.[Gly490_Gly493del; Gly516SerfsX63] HIFD_complex_1 phenoCommon CRIE HIFD_KRT12:c.427G>C commonName c.427G>C HIFD_KRT12:c.427G>C protEffect p.Val143Leu HIFD_KRT12:c.427G>C phenoCommon MCD HIFD_KRT12:c.404G>C commonName c.404G>C HIFD_KRT12:c.404G>C protEffect p.Arg135Thr HIFD_KRT12:c.404G>C phenoCommon MCD HIFD_KRT12:c.403A>G commonName c.403A>G HIFD_KRT12:c.403A>G protEffect p.Arg135Gly HIFD_KRT12:c.403A>G phenoCommon MCD HIFD_KRT12:c.404G>T commonName c.404G>T HIFD_KRT12:c.404G>T protEffect p.Arg135Ile HIFD_KRT12:c.404G>T phenoCommon MCD HIFD_KRT12:c.419T>G commonName c.419T>G HIFD_KRT12:c.419T>G protEffect p.Leu140Arg HIFD_KRT12:c.419T>G phenoCommon MCD HIFD_KRT12:c.1285T>G commonName c.1285T>G HIFD_KRT12:c.1285T>G protEffect p.Tyr429Asp HIFD_KRT12:c.1285T>G phenoCommon MCD HIFD_KRT12:c.1276A>G commonName c.1276A>G HIFD_KRT12:c.1276A>G protEffect p.Ile426Val HIFD_KRT12:c.1276A>G phenoCommon MCD HIFD_KRT12:c.386T>C commonName c.386T>C HIFD_KRT12:c.386T>C protEffect p.Met129Thr HIFD_KRT12:c.386T>C phenoCommon MCD HIFD_KRT12:c.389A>C commonName c.389A>C HIFD_KRT12:c.389A>C protEffect p.Gln130Pro HIFD_KRT12:c.389A>C phenoCommon MCD HIFD_KRT12:c.399T>G commonName c.399T>G HIFD_KRT12:c.399T>G protEffect p.Asn133Lys HIFD_KRT12:c.399T>G phenoCommon MCD HIFD_KRT12:c.409G>C commonName c.409G>C HIFD_KRT12:c.409G>C protEffect p.Ala137Pro HIFD_KRT12:c.409G>C phenoCommon MCD HIFD_KRT12:c.405A>C commonName c.405A>C HIFD_KRT12:c.405A>C protEffect p.Arg135Ser HIFD_KRT12:c.405A>C phenoCommon MCD HIFD_KRT12:c.1197_1198ins27 commonName c.1197_1198insATCAGCAACCTGGAGGCACAGCTGCTC HIFD_KRT12:c.1197_1198ins27 protEffect p.Leu399_Gln400ins9 HIFD_KRT12:c.1197_1198ins27 phenoCommon MCD HIFD_KRT12:c.1286A>G commonName c.1286A>G HIFD_KRT12:c.1286A>G protEffect p.Tyr429Cys HIFD_KRT12:c.1286A>G phenoCommon MCD HIFD_KRT12:c.1277T>G commonName c.1277T>G HIFD_KRT12:c.1277T>G protEffect p.Ile426Ser HIFD_KRT12:c.1277T>G phenoCommon MCD HIFD_KRT12:c.1289G>C commonName c.1289G>C HIFD_KRT12:c.1289G>C protEffect p.Arg430Pro HIFD_KRT12:c.1289G>C phenoCommon MCD HIFD_KRT12:c.427G>T commonName c.427G>T HIFD_KRT12:c.427G>T protEffect p.Val143Leu HIFD_KRT12:c.427G>T phenoCommon MCD HIFD_KRT12:c.1298T>G commonName c.1298T>G HIFD_KRT12:c.1298T>G protEffect p.Leu433Arg HIFD_KRT12:c.1298T>G phenoCommon MCD HIFD_KRT12:c.385A>G commonName c.385A>G HIFD_KRT12:c.385A>G protEffect p.Met129Val HIFD_KRT12:c.385A>G phenoCommon MCD HIFD_KRT13:c.356T>C commonName c.356T>C HIFD_KRT13:c.356T>C protEffect p.Leu119Pro HIFD_KRT13:c.356T>C phenoCommon WSN HIFD_KRT13:c.344T>C commonName c.344T>C HIFD_KRT13:c.344T>C protEffect p.Leu115Pro HIFD_KRT13:c.344T>C phenoCommon WSN HIFD_KRT13:c.323T>C commonName c.323T>C HIFD_KRT13:c.323T>C protEffect p.Met108Thr HIFD_KRT13:c.323T>C phenoCommon WSN HIFD_KRT13:c.335A>G commonName c.335A>G HIFD_KRT13:c.335A>G protEffect p.Asn112Ser HIFD_KRT13:c.335A>G phenoCommon WSN HIFD_KRT13:c.332T>C commonName c.332T>C HIFD_KRT13:c.332T>C protEffect p.Leu111Pro HIFD_KRT13:c.332T>C phenoCommon WSN HIFD_KRT13:c.341G>A commonName c.341G>A HIFD_KRT13:c.341G>A protEffect p.Arg114His HIFD_KRT13:c.341G>A phenoCommon WSN HIFD_KRT14:c.1151T>C commonName c.1151T>C HIFD_KRT14:c.1151T>C protEffect p.Leu384Pro HIFD_KRT14:c.1151T>C phenoCommon EBS-K HIFD_KRT14:c.373C>T commonName c.373C>T HIFD_KRT14:c.373C>T protEffect p.Arg125Cys HIFD_KRT14:c.373C>T phenoCommon EBS-DM HIFD_KRT14:c.374G>A commonName c.374G>A HIFD_KRT14:c.374G>A protEffect p.Arg125His HIFD_KRT14:c.374G>A phenoCommon EBS-DM HIFD_KRT14:c.808G>A commonName c.808G>A HIFD_KRT14:c.808G>A protEffect p.Val270Met HIFD_KRT14:c.808G>A phenoCommon EBS-WC HIFD_KRT14:c.1123_1125delGAG commonName c.1123_1125delGAG HIFD_KRT14:c.1123_1125delGAG protEffect p.Glu375del HIFD_KRT14:c.1123_1125delGAG phenoCommon EBS-WC HIFD_KRT14:c.313_314delGC commonName c.313_314delGC HIFD_KRT14:c.313_314delGC protEffect p.Ala105TrpfsX3 HIFD_KRT14:c.313_314delGC phenoCommon REBS-K HIFD_KRT14:c.612T>A commonName c.612T>A HIFD_KRT14:c.612T>A protEffect p.Tyr204X HIFD_KRT14:c.612T>A phenoCommon REBS-K HIFD_KRT14:c.364C>T commonName c.364C>T HIFD_KRT14:c.364C>T protEffect p.Leu122Phe HIFD_KRT14:c.364C>T phenoCommon EBS-K HIFD_KRT14:c.431A>C commonName c.431A>C HIFD_KRT14:c.431A>C protEffect p.Glu144Ala HIFD_KRT14:c.431A>C phenoCommon REBS-WC HIFD_KRT14:c.359A>G commonName c.359A>G HIFD_KRT14:c.359A>G protEffect p.Gln120Arg HIFD_KRT14:c.359A>G phenoCommon EBS-DM HIFD_KRT14:c.821C>A commonName c.821C>A HIFD_KRT14:c.821C>A protEffect p.Ala274Asp HIFD_KRT14:c.821C>A phenoCommon EBS-WC HIFD_KRT14:c.1130T>A commonName c.1130T>A HIFD_KRT14:c.1130T>A protEffect p.Ile377Asn HIFD_KRT14:c.1130T>A phenoCommon EBS-WC HIFD_KRT14:c.1162C>T commonName c.1162C>T HIFD_KRT14:c.1162C>T protEffect p.Arg388Cys HIFD_KRT14:c.1162C>T phenoCommon EBS-WC HIFD_KRT14:c.815T>G commonName c.815T>G HIFD_KRT14:c.815T>G protEffect p.Met272Arg HIFD_KRT14:c.815T>G phenoCommon EBS-K HIFD_KRT14:c.385T>G commonName c.385T>G HIFD_KRT14:c.385T>G protEffect p.Tyr129Asp HIFD_KRT14:c.385T>G phenoCommon EBS-DM HIFD_KRT14:c.526-2A>C commonName c.526-2A>C HIFD_KRT14:c.526-2A>C protEffect "p.[Ile176ValfsX2, Ile176ProfsX30]" HIFD_KRT14:c.526-2A>C phenoCommon REBS-K HIFD_KRT14:c.357G>A commonName c.357G>A HIFD_KRT14:c.357G>A protEffect p.Met119Ile HIFD_KRT14:c.357G>A phenoCommon EBS-DM HIFD_KRT14:c.915G>A commonName c.915G>A HIFD_KRT14:c.915G>A protEffect p.Trp305X HIFD_KRT14:c.915G>A phenoCommon REBS-K HIFD_KRT14:c.356T>C commonName c.356T>C HIFD_KRT14:c.356T>C protEffect p.Met119Thr HIFD_KRT14:c.356T>C phenoCommon EBS-DM HIFD_KRT14:c.818A>G commonName c.818A>G HIFD_KRT14:c.818A>G protEffect p.Asp273Gly HIFD_KRT14:c.818A>G phenoCommon EBS-WC HIFD_KRT14:c.368A>G commonName c.368A>G HIFD_KRT14:c.368A>G protEffect p.Asn123Ser HIFD_KRT14:c.368A>G phenoCommon EBS-DM HIFD_KRT14:c.348G>C commonName c.348G>C HIFD_KRT14:c.348G>C protEffect p.Lys116Asn HIFD_KRT14:c.348G>C phenoCommon EBS-DM HIFD_KRT14:c.428T>C commonName c.428T>C HIFD_KRT14:c.428T>C protEffect p.Leu143Pro HIFD_KRT14:c.428T>C phenoCommon EBS-DM HIFD_KRT14:c.1243T>C commonName c.1243T>C HIFD_KRT14:c.1243T>C protEffect p.Tyr415His HIFD_KRT14:c.1243T>C phenoCommon EBS-K HIFD_KRT14:c.1256T>A commonName c.1256T>A HIFD_KRT14:c.1256T>A protEffect p.Leu419Gln HIFD_KRT14:c.1256T>A phenoCommon EBS-DM HIFD_KRT14:c.1264G>A commonName c.1264G>A HIFD_KRT14:c.1264G>A protEffect p.Glu422Lys HIFD_KRT14:c.1264G>A phenoCommon EBS-WC HIFD_KRT14:c.526-2A>C phenoCommon REBS HIFD_KRT14:c.1243T>C phenoCommon EBS-DM HIFD_KRT14:c.401G>C commonName c.401G>C HIFD_KRT14:c.401G>C protEffect p.Arg134Pro HIFD_KRT14:c.401G>C phenoCommon EBS-K HIFD_KRT14:c.92delT commonName c.92delT HIFD_KRT14:c.92delT protEffect p.Ile31ThrfsX87 HIFD_KRT14:c.92delT phenoCommon REBS HIFD_KRT14:c.355A>G commonName c.355A>G HIFD_KRT14:c.355A>G protEffect p.Met119Val HIFD_KRT14:c.355A>G phenoCommon EBS-K HIFD_KRT14:c.529_534delCTCACA commonName c.529_534delCTCACA HIFD_KRT14:c.529_534delCTCACA protEffect p.Leu177_Thr178del HIFD_KRT14:c.529_534delCTCACA phenoCommon REBS HIFD_KRT14:c.528T>G commonName c.528T>G HIFD_KRT14:c.528T>G protEffect p.Ile176Met HIFD_KRT14:c.528T>G phenoCommon REBS HIFD_KRT14:c.1231G>T commonName c.1231G>T HIFD_KRT14:c.1231G>T protEffect p.Glu411X HIFD_KRT14:c.1231G>T phenoCommon EBS-K HIFD_KRT14:c.1237G>A commonName c.1237G>A HIFD_KRT14:c.1237G>A protEffect p.Ala413Thr HIFD_KRT14:c.1237G>A phenoCommon EBS-K HIFD_KRT14:c.744delCinsAG commonName c.744delCinsAG HIFD_KRT14:c.744delCinsAG protEffect p.Tyr248X HIFD_KRT14:c.744delCinsAG phenoCommon REBS-K HIFD_KRT14:c.442C>T commonName c.442C>T HIFD_KRT14:c.442C>T protEffect p.Arg148Cys HIFD_KRT14:c.442C>T phenoCommon EBS-WC HIFD_KRT14:c.1247G>C commonName c.1247G>C HIFD_KRT14:c.1247G>C protEffect p.Arg416Pro HIFD_KRT14:c.1247G>C phenoCommon EBS-DM HIFD_KRT14:c.383_385delCCT commonName c.383_385delCCT HIFD_KRT14:c.383_385delCCT protEffect p.Ser128del HIFD_KRT14:c.383_385delCCT phenoCommon EBS-DM HIFD_KRT14:c.1222C>A commonName c.1222C>A HIFD_KRT14:c.1222C>A protEffect p.Leu408Met HIFD_KRT14:c.1222C>A phenoCommon EBS-WC HIFD_KRT14:c.389T>C commonName c.389T>C HIFD_KRT14:c.389T>C protEffect p.Leu130Pro HIFD_KRT14:c.389T>C phenoCommon EBS-DM HIFD_KRT14:c.927+1G>A commonName c.927+1G>A HIFD_KRT14:c.927+1G>A protEffect p.? HIFD_KRT14:c.927+1G>A phenoCommon EBS-K HIFD_KRT14:c.1244A>G commonName c.1244A>G HIFD_KRT14:c.1244A>G protEffect p.Tyr415Cys HIFD_KRT14:c.1244A>G phenoCommon EBS-WC HIFD_KRT14:c.[1163G>A; =]+[=; 1186C>T] commonName c.[1163G>A; =]+[=; 1186C>T] HIFD_KRT14:c.[1163G>A; =]+[=; 1186C>T] protEffect p.[Arg388His; =]+[=; Gln396X] HIFD_KRT14:c.[1163G>A; =]+[=; 1186C>T] phenoCommon REBS-WC HIFD_KRT14:c.915G>A phenoCommon EBS-K HIFD_KRT14:c.1186C>T commonName c.1186C>T HIFD_KRT14:c.1186C>T protEffect p.Gln396X HIFD_KRT14:c.1186C>T phenoCommon EBS-K HIFD_KRT14:c.242_243insG commonName c.242_243insG HIFD_KRT14:c.242_243insG protEffect p.Gly81GlyfsX2 HIFD_KRT14:c.242_243insG phenoCommon EBS-DM HIFD_KRT14:c.369T>A commonName c.369T>A HIFD_KRT14:c.369T>A protEffect p.Asn123Lys HIFD_KRT14:c.369T>A phenoCommon EBS-DM HIFD_KRT14:c.373C>G commonName c.373C>G HIFD_KRT14:c.373C>G protEffect p.Arg125Gly HIFD_KRT14:c.373C>G phenoCommon EBS-DM HIFD_KRT14:c.397G>T commonName c.397G>T HIFD_KRT14:c.397G>T protEffect p.Val133Leu HIFD_KRT14:c.397G>T phenoCommon EBS-WC HIFD_KRT14:c.400C>T commonName c.400C>T HIFD_KRT14:c.400C>T protEffect p.Arg134Cys HIFD_KRT14:c.400C>T phenoCommon EBS-WC HIFD_KRT14:c.397G>A commonName c.397G>A HIFD_KRT14:c.397G>A protEffect p.Val133Met HIFD_KRT14:c.397G>A phenoCommon EBS-WC HIFD_KRT14:c.359A>C commonName c.359A>C HIFD_KRT14:c.359A>C protEffect p.Gln120Pro HIFD_KRT14:c.359A>C phenoCommon EBS-K HIFD_KRT14:c.1246_1246delC commonName c.1246_1246delC HIFD_KRT14:c.1246_1246delC protEffect p.Arg416AlafsX26 HIFD_KRT14:c.1246_1246delC phenoCommon EBS-DM HIFD_KRT14:c.1163G>A commonName c.1163G>A HIFD_KRT14:c.1163G>A protEffect p.Arg388His HIFD_KRT14:c.1163G>A phenoCommon EBS-WC HIFD_KRT14:c.1163G>C commonName c.1163G>C HIFD_KRT14:c.1163G>C protEffect p.Arg388Pro HIFD_KRT14:c.1163G>C phenoCommon EBS-WC HIFD_KRT14:c.399G>T commonName c.399G>T HIFD_KRT14:c.399G>T protEffect p.Val133Leu HIFD_KRT14:c.399G>T phenoCommon EBS-K HIFD_KRT14:c.632G>C commonName c.632G>C HIFD_KRT14:c.632G>C protEffect p.Arg211Pro HIFD_KRT14:c.632G>C phenoCommon EBS-WC HIFD_KRT14:c.815T>C commonName c.815T>C HIFD_KRT14:c.815T>C protEffect p.Met272Thr HIFD_KRT14:c.815T>C phenoCommon EBS-K HIFD_KRT14:c.1231_1233delGAG commonName c.1231_1233delGAG HIFD_KRT14:c.1231_1233delGAG protEffect p.Glu411del HIFD_KRT14:c.1231_1233delGAG phenoCommon EBS-WC HIFD_KRT14:c.1250G>C commonName c.1250G>C HIFD_KRT14:c.1250G>C protEffect p.Arg417Pro HIFD_KRT14:c.1250G>C phenoCommon EBS-DM HIFD_KRT14:c.364C>T phenoCommon EBS-DM HIFD_KRT14:c.1218_1218delG commonName c.1218_1218delG HIFD_KRT14:c.1218_1218delG protEffect p.Thr406GlyfsX35 HIFD_KRT14:c.1218_1218delG phenoCommon EBS-WC HIFD_KRT14:c.1218_1218delG phenoCommon EBS-K HIFD_KRT14:c.356T>C phenoCommon EBS-MP HIFD_KRT14:c.427delC commonName c.427delC HIFD_KRT14:c.427delC protEffect p.Leu143TrpfsX3 HIFD_KRT14:c.427delC phenoCommon EBS-K HIFD_KRT14:c.129dupC commonName c.129dupC HIFD_KRT14:c.129dupC protEffect p.Ser44GlnfsX39 HIFD_KRT14:c.129dupC phenoCommon EBS-K HIFD_KRT14:c.355A>G phenoCommon EBS-WC HIFD_KRT14:c.17delG commonName c.17delG HIFD_KRT14:c.17delG protEffect p.Arg6ProfsX9 HIFD_KRT14:c.17delG phenoCommon NFJS HIFD_KRT14:c.54C>A commonName c.54C>A HIFD_KRT14:c.54C>A protEffect p.Cys18X HIFD_KRT14:c.54C>A phenoCommon DPR HIFD_KRT14:c.19C>T commonName c.19C>T HIFD_KRT14:c.19C>T protEffect p.Gln7X HIFD_KRT14:c.19C>T phenoCommon NFJS HIFD_KRT14:c.374G>C commonName c.374G>C HIFD_KRT14:c.374G>C protEffect p.Arg125Pro HIFD_KRT14:c.374G>C phenoCommon EBS-DM HIFD_KRT14:c.397G>C commonName c.397G>C HIFD_KRT14:c.397G>C protEffect p.Val133Leu HIFD_KRT14:c.397G>C phenoCommon EBS-K HIFD_KRT14:c.346A>G commonName c.346A>G HIFD_KRT14:c.346A>G protEffect p.Lys116Glu HIFD_KRT14:c.346A>G phenoCommon EBS-K HIFD_KRT14:c.386A>G commonName c.386A>G HIFD_KRT14:c.386A>G protEffect p.Tyr129Cys HIFD_KRT14:c.386A>G phenoCommon EBS-K HIFD_KRT14:c.398T>C commonName c.398T>C HIFD_KRT14:c.398T>C protEffect p.Val133Ala HIFD_KRT14:c.398T>C phenoCommon EBS-K HIFD_KRT14:c.1130T>C commonName c.1130T>C HIFD_KRT14:c.1130T>C protEffect p.Ile377Thr HIFD_KRT14:c.1130T>C phenoCommon EBS-WC HIFD_KRT14:c.1252C>G commonName c.1252C>G HIFD_KRT14:c.1252C>G protEffect p.Leu418Val HIFD_KRT14:c.1252C>G phenoCommon EBS-K HIFD_KRT14:c.927+1G>A phenoCommon EBS-WC HIFD_KRT14:c.407T>A commonName c.407T>A HIFD_KRT14:c.407T>A protEffect p.Leu136Gln HIFD_KRT14:c.407T>A phenoCommon EBS-WC HIFD_KRT14:c.1231G>A commonName c.1231G>A HIFD_KRT14:c.1231G>A protEffect p.Glu411Lys HIFD_KRT14:c.1231G>A phenoCommon EBS-DM HIFD_KRT14:c.1235T>A commonName c.1235T>A HIFD_KRT14:c.1235T>A protEffect p.Ile412Asn HIFD_KRT14:c.1235T>A phenoCommon EBS-DM HIFD_KRT14:c.373C>T phenoCommon DPR HIFD_KRT14:c.1202T>C commonName c.1202T>C HIFD_KRT14:c.1202T>C protEffect p.Leu401Pro HIFD_KRT14:c.1202T>C phenoCommon EBS-WC HIFD_KRT14:c.374G>T commonName c.374G>T HIFD_KRT14:c.374G>T protEffect p.Arg125Leu HIFD_KRT14:c.374G>T phenoCommon EBS-DM HIFD_KRT14:c.428T>C phenoCommon EBS-K HIFD_KRT14:c.1174G>T commonName c.1174G>T HIFD_KRT14:c.1174G>T protEffect p.Glu392X HIFD_KRT14:c.1174G>T phenoCommon EDMD3 HIFD_KRT14:c.382T>C commonName c.382T>C HIFD_KRT14:c.382T>C protEffect p.Ser128Pro HIFD_KRT14:c.382T>C phenoCommon EBS-DM HIFD_KRT14:c.407T>C commonName c.407T>C HIFD_KRT14:c.407T>C protEffect p.Leu136Pro HIFD_KRT14:c.407T>C phenoCommon EBS-WC HIFD_KRT14:c.419A>G commonName c.419A>G HIFD_KRT14:c.419A>G protEffect p.Asn140Ser HIFD_KRT14:c.419A>G phenoCommon EBS-K HIFD_KRT14:c.803T>A commonName c.803T>A HIFD_KRT14:c.803T>A protEffect p.Val268Asp HIFD_KRT14:c.803T>A phenoCommon EBS-K HIFD_KRT14:c.1141G>A commonName c.1141G>A HIFD_KRT14:c.1141G>A protEffect p.Glu381Lys HIFD_KRT14:c.1141G>A phenoCommon EBS-WC HIFD_KRT14:c.1162C>G commonName c.1162C>G HIFD_KRT14:c.1162C>G protEffect p.Arg388Gly HIFD_KRT14:c.1162C>G phenoCommon EBS-K HIFD_KRT14:c.1163G>C phenoCommon EBS-K HIFD_KRT14:c.373C>T phenoCommon EBS-WC HIFD_KRT14:c.397G>T phenoCommon EBS-K HIFD_KRT14:c.808G>A phenoCommon EBS-K HIFD_KRT14:c.815T>C phenoCommon EBS-WC HIFD_KRT14:c.915G>A phenoCommon EBS-WC HIFD_KRT14:c.1130T>A phenoCommon EBS-K HIFD_KRT14:c.1228C>T commonName c.1228C>T HIFD_KRT14:c.1228C>T protEffect p.Gln410X HIFD_KRT14:c.1228C>T phenoCommon EBS-K HIFD_KRT14:c.1228C>T phenoCommon EBS-WC HIFD_KRT14:c.1117_1158dup42 commonName c.1117_1158dupATCCAGGAGATGATTGGCAGCGTGGAGGAGCAGCTGGCCCAG HIFD_KRT14:c.1117_1158dup42 protEffect p.Ile373GlufsX53 HIFD_KRT14:c.1117_1158dup42 phenoCommon EBS-MP HIFD_KRT14:c.1256_1274+163del182insA commonName c.1256_1274+163delTGGAGGGCGAGGACGCCCAGTGAGTCTTGGCCCTCCCCTTAGTCCGCCCCCCCCATGGCACTCTCACGGCCCCACCATGTATCTAATGATCCTGTCCTTTTCTATTTTCACAGCCTCTCCTCCTCCCAGTTCTCCTCTGGATCGCAGTCATCCAGAGATGGTAAGACCCTCCTCCTCTGCAGinsA HIFD_KRT14:c.1256_1274+163del182insA protEffect p.Leu419HisfsX41 HIFD_KRT14:c.1256_1274+163del182insA phenoCommon EBS-WC HIFD_KRT14:c.1231G>A phenoCommon EBS-K HIFD_KRT14:c.382_384delTCC commonName c.382_384delTCC HIFD_KRT14:c.382_384delTCC protEffect p.Ser128del HIFD_KRT14:c.382_384delTCC phenoCommon EBS-DM HIFD_KRT14:c.815T>G phenoCommon EBS-DM HIFD_KRT14:c.740_748delCCTACCTGAinsGAA commonName c.740_748delCCTACCTGAinsGAA HIFD_KRT14:c.740_748delCCTACCTGAinsGAA protEffect p.Ala247_Lys250delinsGlu HIFD_KRT14:c.740_748delCCTACCTGAinsGAA phenoCommon EBS-WC HIFD_KRT14:c.740_748delCCTACCTGAinsGAA phenoCommon REBS-WC HIFD_KRT14:c.927+1G>T commonName c.927+1G>T HIFD_KRT14:c.927+1G>T protEffect p.? HIFD_KRT14:c.927+1G>T phenoCommon EBS-WC HIFD_KRT14:c.1234A>T commonName c.1234A>T HIFD_KRT14:c.1234A>T protEffect p.Ile412Phe HIFD_KRT14:c.1234A>T phenoCommon EBS-WC HIFD_KRT14:c.1240_1249delACCTACCGCC commonName c.1240_1249delACCTACCGCC HIFD_KRT14:c.1240_1249delACCTACCGCC protEffect p.Thr414AlafsX25 HIFD_KRT14:c.1240_1249delACCTACCGCC phenoCommon REBS-K HIFD_KRT14:c.955A>C commonName c.955A>C HIFD_KRT14:c.955A>C protEffect p.Thr319Pro HIFD_KRT14:c.955A>C phenoCommon EBS-WC HIFD_KRT14:c.346A>T commonName c.346A>T HIFD_KRT14:c.346A>T protEffect p.Lys116X HIFD_KRT14:c.346A>T phenoCommon REBS HIFD_KRT14:c.749delA commonName c.749delA HIFD_KRT14:c.749delA protEffect p.Lys250ArgfsX8 HIFD_KRT14:c.749delA phenoCommon REBS HIFD_KRT14:c.1237G>C commonName c.1237G>C HIFD_KRT14:c.1237G>C protEffect p.Ala413Pro HIFD_KRT14:c.1237G>C phenoCommon EBS-WC HIFD_KRT16:c.395T>C commonName c.395T>C HIFD_KRT16:c.395T>C protEffect p.Leu132Pro HIFD_KRT16:c.395T>C phenoCommon PC-1 HIFD_KRT16:c.379C>T commonName c.379C>T HIFD_KRT16:c.379C>T protEffect p.Arg127Cys HIFD_KRT16:c.379C>T phenoCommon FNEPPK HIFD_KRT16:c.374A>G commonName c.374A>G HIFD_KRT16:c.374A>G protEffect p.Asn125Ser HIFD_KRT16:c.374A>G phenoCommon FNEPPK HIFD_KRT16:c.389_391delCCT commonName c.389_391delCCT HIFD_KRT16:c.389_391delCCT protEffect p.Ser130del HIFD_KRT16:c.389_391delCCT phenoCommon PC-1 HIFD_KRT16:c.380G>C commonName c.380G>C HIFD_KRT16:c.380G>C protEffect p.Arg127Pro HIFD_KRT16:c.380G>C phenoCommon PC-1 HIFD_KRT16:c.365A>C commonName c.365A>C HIFD_KRT16:c.365A>C protEffect p.Gln122Pro HIFD_KRT16:c.365A>C phenoCommon PC-1 HIFD_KRT16:c.[1244_1266del23]+[1270delG] commonName c.[1244_1266delCCACCTACCGCCGCCTGCTGGAG]+[1270delG] HIFD_KRT16:c.[1244_1266del23]+[1270delG] protEffect p.[Ala415_Glu422del]+[Glu424Gln] HIFD_KRT16:c.[1244_1266del23]+[1270delG] phenoCommon FNEPPK HIFD_KRT16:c.371T>G commonName c.371T>G HIFD_KRT16:c.371T>G protEffect p.Leu124Arg HIFD_KRT16:c.371T>G phenoCommon PC-1 HIFD_KRT16:c.309_320del12 commonName c.309_320delTGGTGGTTTTGC HIFD_KRT16:c.309_320del12 protEffect p.Gly104_Ala107del HIFD_KRT16:c.309_320del12 phenoCommon EPPK HIFD_KRT16:c.1062A>T commonName c.1062A>T HIFD_KRT16:c.1062A>T protEffect p.Lys354Asn HIFD_KRT16:c.1062A>T phenoCommon PC-1 HIFD_KRT16:c.362T>C commonName c.362T>C HIFD_KRT16:c.362T>C protEffect p.Met121Thr HIFD_KRT16:c.362T>C phenoCommon PC-1 HIFD_KRT16:c.383T>A commonName c.383T>A HIFD_KRT16:c.383T>A protEffect p.Leu128Gln HIFD_KRT16:c.383T>A phenoCommon PC-1 HIFD_KRT16:c.371T>C commonName c.371T>C HIFD_KRT16:c.371T>C protEffect p.Leu124Pro HIFD_KRT16:c.371T>C phenoCommon PC-1 HIFD_KRT16:c.371T>A commonName c.371T>A HIFD_KRT16:c.371T>A protEffect p.Leu124His HIFD_KRT16:c.371T>A phenoCommon PC-1 HIFD_KRT16:c.373A>G commonName c.373A>G HIFD_KRT16:c.373A>G protEffect p.Asn125Asp HIFD_KRT16:c.373A>G phenoCommon PC-1 HIFD_KRT16:c.374A>G phenoCommon PC-1 HIFD_KRT16:c.43A>T commonName c.43A>T HIFD_KRT16:c.43A>T protEffect p.Lys15X HIFD_KRT16:c.43A>T phenoCommon PC-1 HIFD_KRT16:c.362T>A commonName c.362T>A HIFD_KRT16:c.362T>A protEffect p.Met121Lys HIFD_KRT16:c.362T>A phenoCommon PC-1 HIFD_KRT16:c.379C>T phenoCommon PC-1 HIFD_KRT16:c.371_373delTCA commonName c.371_373delTCA HIFD_KRT16:c.371_373delTCA protEffect p.Leu124_Asn125delinsHis HIFD_KRT16:c.371_373delTCA phenoCommon PC-1 HIFD_KRT16:c.25delA commonName c.25delA HIFD_KRT16:c.25delA protEffect p.Thr9ProfsX6 HIFD_KRT16:c.25delA phenoCommon FNEPPK HIFD_KRT17:c.274A>G commonName c.274A>G HIFD_KRT17:c.274A>G protEffect p.Asn92Asp HIFD_KRT17:c.274A>G phenoCommon PC-2 HIFD_KRT17:c.275A>G commonName c.275A>G HIFD_KRT17:c.275A>G protEffect p.Asn92Ser HIFD_KRT17:c.275A>G phenoCommon PC-2 HIFD_KRT17:c.292T>G commonName c.292T>G HIFD_KRT17:c.292T>G protEffect p.Tyr98Asp HIFD_KRT17:c.292T>G phenoCommon PC-2 HIFD_KRT17:c.274A>C commonName c.274A>C HIFD_KRT17:c.274A>C protEffect p.Asn92His HIFD_KRT17:c.274A>C phenoCommon SM HIFD_KRT17:c.281G>A commonName c.281G>A HIFD_KRT17:c.281G>A protEffect p.Arg94His HIFD_KRT17:c.281G>A phenoCommon SM HIFD_KRT17:c.280C>T commonName c.280C>T HIFD_KRT17:c.280C>T protEffect p.Arg94Cys HIFD_KRT17:c.280C>T phenoCommon PC-2 HIFD_KRT17:c.263T>C commonName c.263T>C HIFD_KRT17:c.263T>C protEffect p.Met88Thr HIFD_KRT17:c.263T>C phenoCommon PC-2 HIFD_KRT17:c.280_294del15 commonName c.280_294delCGCCTGGCCTCCTAC HIFD_KRT17:c.280_294del15 protEffect p.Arg94_Tyr98del HIFD_KRT17:c.280_294del15 phenoCommon PC-2 HIFD_KRT17:c.281G>C commonName c.281G>C HIFD_KRT17:c.281G>C protEffect p.Arg94Pro HIFD_KRT17:c.281G>C phenoCommon PC-2 HIFD_KRT17:c.284T>A commonName c.284T>A HIFD_KRT17:c.284T>A protEffect p.Leu95Gln HIFD_KRT17:c.284T>A phenoCommon PC-2 HIFD_KRT17:c.304G>A commonName c.304G>A HIFD_KRT17:c.304G>A protEffect p.Val102Met HIFD_KRT17:c.304G>A phenoCommon PC-2 HIFD_KRT17:c.289_291delTCC commonName c.289_291delTCC HIFD_KRT17:c.289_291delTCC protEffect p.Ser97del HIFD_KRT17:c.289_291delTCC phenoCommon PC-2 HIFD_KRT17:c.284T>C commonName c.284T>C HIFD_KRT17:c.284T>C protEffect p.Leu95Pro HIFD_KRT17:c.284T>C phenoCommon PC-2 HIFD_KRT17:c.296T>C commonName c.296T>C HIFD_KRT17:c.296T>C protEffect p.Leu99Pro HIFD_KRT17:c.296T>C phenoCommon PC-2 HIFD_KRT17:c.281G>A phenoCommon PC-2 HIFD_KRT17:c.325A>G commonName c.325A>G HIFD_KRT17:c.325A>G protEffect p.Asn109Asp HIFD_KRT17:c.325A>G phenoCommon PC-2 HIFD_KRT17:c.1163T>C commonName c.1163T>C HIFD_KRT17:c.1163T>C protEffect p.Leu388Pro HIFD_KRT17:c.1163T>C phenoCommon PC-2 HIFD_KRT17:c.275A>G phenoCommon PC-1 HIFD_KRT17:c.263T>A commonName c.263T>A HIFD_KRT17:c.263T>A protEffect p.Met88Lys HIFD_KRT17:c.263T>A phenoCommon PC-2 HIFD_KRT17:c.275A>G phenoCommon SM HIFD_KRT17:c.1112T>C commonName c.1112T>C HIFD_KRT17:c.1112T>C protEffect p.Leu371Pro HIFD_KRT17:c.1112T>C phenoCommon SM HIFD_KRT17:c.274_297del24 commonName c.274_297delAATGACCGCCTGGCCTCCTACCTG HIFD_KRT17:c.274_297del24 protEffect p.Asn92_Leu99del HIFD_KRT17:c.274_297del24 phenoCommon PC-2 HIFD_KRT17:c.295_303delCTGGACAAG commonName c.295_303delCTGGACAAG HIFD_KRT17:c.295_303delCTGGACAAG protEffect p.Leu99_Lys101del HIFD_KRT17:c.295_303delCTGGACAAG phenoCommon PC-2 HIFD_KRT17:c.287_298del12 commonName c.287_298delCCTCCTACCTGG HIFD_KRT17:c.287_298del12 protEffect p.Ala96_Leu99del HIFD_KRT17:c.287_298del12 phenoCommon PC-2 HIFD_KRT18:c.383A>T commonName c.383A>T HIFD_KRT18:c.383A>T protEffect p.His128Leu HIFD_KRT18:c.307A>G commonName c.307A>G HIFD_KRT18:c.307A>G protEffect p.Thr103Ala HIFD_KRT18:c.782G>A commonName c.782G>A HIFD_KRT18:c.782G>A protEffect p.Arg261Gln HIFD_KRT18:c.782G>A phenoCommon PBC HIFD_KRT18:c.1018G>A commonName c.1018G>A HIFD_KRT18:c.1018G>A protEffect p.Gly340Arg HIFD_KRT18:c.193_216del24 commonName c.193_216delACCGGGATAGCCGGGGGTCTGGCA HIFD_KRT18:c.193_216del24 protEffect p.Thr65_Ala72del HIFD_KRT18:c.448A>G commonName c.448A>G HIFD_KRT18:c.448A>G protEffect p.Ile150Val HIFD_KRT18:c.827A>G commonName c.827A>G HIFD_KRT18:c.827A>G protEffect p.Glu276Gly HIFD_KRT18:c.854A>G commonName c.854A>G HIFD_KRT18:c.854A>G protEffect p.Gln285Arg HIFD_KRT18:c.884C>T commonName c.884C>T HIFD_KRT18:c.884C>T protEffect p.Thr295Met HIFD_KRT18:c.890C>T commonName c.890C>T HIFD_KRT18:c.890C>T protEffect p.Thr297Ile HIFD_KRT18:c.1232G>A commonName c.1232G>A HIFD_KRT18:c.1232G>A protEffect p.Arg411His HIFD_KRT18:c.1232G>A phenoCommon PBC HIFD_KRT19:c.49G>A commonName c.49G>A HIFD_KRT19:c.49G>A protEffect p.Gly17Ser HIFD_KRT19:c.49G>A phenoCommon PBC HIFD_KRT9:c.481A>T commonName c.481A>T HIFD_KRT9:c.481A>T protEffect p.Asn161Tyr HIFD_KRT9:c.481A>T phenoCommon EPPK HIFD_KRT9:c.483T>A commonName c.483T>A HIFD_KRT9:c.483T>A protEffect p.Asn161Lys HIFD_KRT9:c.483T>A phenoCommon EPPK HIFD_KRT9:c.487C>T commonName c.487C>T HIFD_KRT9:c.487C>T protEffect p.Arg163Trp HIFD_KRT9:c.487C>T phenoCommon EPPK HIFD_KRT9:c.488G>A commonName c.488G>A HIFD_KRT9:c.488G>A protEffect p.Arg163Gln HIFD_KRT9:c.488G>A phenoCommon EPPK HIFD_KRT9:c.469A>G commonName c.469A>G HIFD_KRT9:c.469A>G protEffect p.Met157Val HIFD_KRT9:c.469A>G phenoCommon EPPK HIFD_KRT9:c.515A>C commonName c.515A>C HIFD_KRT9:c.515A>C protEffect p.Gln172Pro HIFD_KRT9:c.515A>C phenoCommon EPPK HIFD_KRT9:c.482A>G commonName c.482A>G HIFD_KRT9:c.482A>G protEffect p.Asn161Ser HIFD_KRT9:c.482A>G phenoCommon EPPK HIFD_KRT9:c.503T>C commonName c.503T>C HIFD_KRT9:c.503T>C protEffect p.Leu168Ser HIFD_KRT9:c.503T>C phenoCommon EPPK HIFD_KRT9:c.478C>G commonName c.478C>G HIFD_KRT9:c.478C>G protEffect p.Leu160Val HIFD_KRT9:c.478C>G phenoCommon EPPK HIFD_KRT9:c.470T>C commonName c.470T>C HIFD_KRT9:c.470T>C protEffect p.Met157Thr HIFD_KRT9:c.470T>C phenoCommon EPPK HIFD_KRT9:c.1362_1363insCAC commonName c.1362_1363insCAC HIFD_KRT9:c.1362_1363insCAC protEffect p.Tyr454_His455insHis HIFD_KRT9:c.1362_1363insCAC phenoCommon EPPK HIFD_KRT9:c.508A>T commonName c.508A>T HIFD_KRT9:c.508A>T protEffect p.Lys170X HIFD_KRT9:c.508A>T phenoCommon EPPK HIFD_KRT9:c.511G>A commonName c.511G>A HIFD_KRT9:c.511G>A protEffect p.Val171Met HIFD_KRT9:c.511G>A phenoCommon EPPK HIFD_KRT9:c.482A>T commonName c.482A>T HIFD_KRT9:c.482A>T protEffect p.Asn161Ile HIFD_KRT9:c.482A>T phenoCommon EPPK HIFD_KRT9:c.478C>T commonName c.478C>T HIFD_KRT9:c.478C>T protEffect p.Leu160Phe HIFD_KRT9:c.478C>T phenoCommon EPPK HIFD_KRT9:c.481A>C commonName c.481A>C HIFD_KRT9:c.481A>C protEffect p.Asn161His HIFD_KRT9:c.481A>C phenoCommon EPPK HIFD_KRT9:c.500_500delAinsGGCT commonName c.500_500delAinsGGCT HIFD_KRT9:c.500_500delAinsGGCT protEffect p.Tyr167delinsTrpLeu HIFD_KRT9:c.500_500delAinsGGCT phenoCommon EPPK HIFD_KRT9:c.488G>C commonName c.488G>C HIFD_KRT9:c.488G>C protEffect p.Arg163Pro HIFD_KRT9:c.488G>C phenoCommon EPPK HIFD_KRT9:c.500delAinsGGCT commonName c.500delAinsGGCT HIFD_KRT9:c.500delAinsGGCT protEffect p.Tyr167delinsTrpLeu HIFD_KRT9:c.500delAinsGGCT phenoCommon EPPK HIFD_KRT9:c.470T>G commonName c.470T>G HIFD_KRT9:c.470T>G protEffect p.Met157Arg HIFD_KRT9:c.470T>G phenoCommon EPPK HIFD_KRT9:c.1372C>T commonName c.1372C>T HIFD_KRT9:c.1372C>T protEffect p.Leu458Phe HIFD_KRT9:c.1372C>T phenoCommon EPPK HIFD_KRT9:c.484C>T commonName c.484C>T HIFD_KRT9:c.484C>T protEffect p.Pro162Ser HIFD_KRT9:c.484C>T phenoCommon EPPK HIFD_KRT9:c.470T>A commonName c.470T>A HIFD_KRT9:c.470T>A protEffect p.Met157Lys HIFD_KRT9:c.470T>A phenoCommon EPPK HIFD_KRT9:c.1360T>C commonName c.1360T>C HIFD_KRT9:c.1360T>C protEffect p.Tyr454His HIFD_KRT9:c.1360T>C phenoCommon EPPK HIFD_KRT9:c.1216T>C commonName c.1216T>C HIFD_KRT9:c.1216T>C protEffect p.Cys406Arg HIFD_KRT9:c.1216T>C phenoCommon EPPK HIFD_KRT1:c.1468G>C commonName c.1468G>C HIFD_KRT1:c.1468G>C protEffect p.Glu490Gln HIFD_KRT1:c.1468G>C phenoCommon BCIE/EHK HIFD_KRT1:c.482T>C commonName c.482T>C HIFD_KRT1:c.482T>C protEffect p.Leu161Pro HIFD_KRT1:c.482T>C phenoCommon BCIE/EHK HIFD_KRT1:c.563A>G commonName c.563A>G HIFD_KRT1:c.563A>G protEffect p.Asn188Ser HIFD_KRT1:c.563A>G phenoCommon BCIE/EHK HIFD_KRT1:c.577T>C commonName c.577T>C HIFD_KRT1:c.577T>C protEffect p.Ser193Pro HIFD_KRT1:c.577T>C phenoCommon BCIE/EHK HIFD_KRT1:c.464T>G commonName c.464T>G HIFD_KRT1:c.464T>G protEffect p.Val155Gly HIFD_KRT1:c.464T>G phenoCommon BCIE/EHK HIFD_KRT1:c.556T>C commonName c.556T>C HIFD_KRT1:c.556T>C protEffect p.Ser186Pro HIFD_KRT1:c.556T>C phenoCommon BCIE/EHK HIFD_KRT1:c.1445A>G commonName c.1445A>G HIFD_KRT1:c.1445A>G protEffect p.Tyr482Cys HIFD_KRT1:c.1445A>G phenoCommon BCIE/EHK HIFD_KRT1:c.221A>T commonName c.221A>T HIFD_KRT1:c.221A>T protEffect p.Lys74Ile HIFD_KRT1:c.221A>T phenoCommon NEPPK HIFD_KRT1:c.536G>C commonName c.536G>C HIFD_KRT1:c.536G>C protEffect p.Arg179Pro HIFD_KRT1:c.536G>C phenoCommon BCIE/EHK HIFD_KRT1:c.1019A>T commonName c.1019A>T HIFD_KRT1:c.1019A>T protEffect p.Asp340Val HIFD_KRT1:c.1019A>T phenoCommon BCIE/EHK HIFD_KRT1:c.1436T>C commonName c.1436T>C HIFD_KRT1:c.1436T>C protEffect p.Ile479Thr HIFD_KRT1:c.1436T>C phenoCommon BCIE/EHK HIFD_KRT1:c.1435A>T commonName c.1435A>T HIFD_KRT1:c.1435A>T protEffect p.Ile479Phe HIFD_KRT1:c.1435A>T phenoCommon BCIE/EHK HIFD_KRT1:c.1434G>T commonName c.1434G>T HIFD_KRT1:c.1434G>T protEffect p.Glu478Asp HIFD_KRT1:c.1434G>T phenoCommon BCIE/EHK HIFD_KRT1:c.563A>C commonName c.563A>C HIFD_KRT1:c.563A>C protEffect p.Asn188Thr HIFD_KRT1:c.563A>C phenoCommon BCIE/EHK HIFD_KRT1:c.641T>C commonName c.641T>C HIFD_KRT1:c.641T>C protEffect p.Leu214Pro HIFD_KRT1:c.641T>C phenoCommon BCIE/EHK HIFD_KRT1:c.1609_1610delGGinsA commonName c.1609_1610delGGinsA HIFD_KRT1:c.1609_1610delGGinsA protEffect p.Gly537IlefsX77 HIFD_KRT1:c.1609_1610delGGinsA phenoCommon IHCM HIFD_KRT1:c.1254+1G>A commonName c.1254+1G>A HIFD_KRT1:c.1254+1G>A protEffect p.Gln418_Ile419ins18 HIFD_KRT1:c.1254+1G>A phenoCommon EPPK HIFD_KRT1:c.464T>A commonName c.464T>A HIFD_KRT1:c.464T>A protEffect p.Val155Asp HIFD_KRT1:c.464T>A phenoCommon BCIE/EHK HIFD_KRT1:c.531G>T commonName c.531G>T HIFD_KRT1:c.531G>T protEffect p.Lys177Asn HIFD_KRT1:c.531G>T phenoCommon BCIE/EHK HIFD_KRT1:c.573T>G commonName c.573T>G HIFD_KRT1:c.573T>G protEffect p.Phe191Leu HIFD_KRT1:c.573T>G phenoCommon BCIE/EHK HIFD_KRT1:c.591+1G>C commonName c.591+1G>C HIFD_KRT1:c.591+1G>C protEffect p.? HIFD_KRT1:c.591+1G>C phenoCommon BCIE/EHK HIFD_KRT1:c.591+1G>A commonName c.591+1G>A HIFD_KRT1:c.591+1G>A protEffect p.? HIFD_KRT1:c.591+1G>A phenoCommon BCIE/EHK HIFD_KRT1:c.502_513del12 commonName c.502_513delGAGATTGACCCT HIFD_KRT1:c.502_513del12 protEffect p.Glu168_Pro171del HIFD_KRT1:c.502_513del12 phenoCommon BCIE/EHK HIFD_KRT1:c.1628delG commonName c.1628delG HIFD_KRT1:c.1628delG protEffect p.Gly543ValfsX70 HIFD_KRT1:c.1628delG phenoCommon SPPK HIFD_KRT1:c.1432G>A commonName c.1432G>A HIFD_KRT1:c.1432G>A protEffect p.Glu478Lys HIFD_KRT1:c.1432G>A phenoCommon BCIE/EHK HIFD_KRT1:c.591+2T>A commonName c.591+2T>A HIFD_KRT1:c.591+2T>A protEffect p.Val176_Lys197del HIFD_KRT1:c.591+2T>A phenoCommon PPK HIFD_KRT1:c.1376_1399del24 commonName c.1376_1399delCCCGCCTGCTGCGCGACTACCAGG HIFD_KRT1:c.1376_1399del24 protEffect p.Ala459_Gln466del HIFD_KRT1:c.1376_1399del24 phenoCommon PPK HIFD_KRT1:c.564C>A commonName c.564C>A HIFD_KRT1:c.564C>A protEffect p.Asn188Lys HIFD_KRT1:c.564C>A phenoCommon BCIE/EHK HIFD_KRT1:c.1457T>C commonName c.1457T>C HIFD_KRT1:c.1457T>C protEffect p.Leu486Pro HIFD_KRT1:c.1457T>C phenoCommon BCIE/EHK HIFD_KRT1:c.1751_1752insG commonName c.1751_1752insG HIFD_KRT1:c.1751_1752insG protEffect p.Tyr587LeufsX67 HIFD_KRT1:c.1751_1752insG phenoCommon BCIE/EHK HIFD_KRT1:c.572T>G commonName c.572T>G HIFD_KRT1:c.572T>G protEffect p.Phe191Cys HIFD_KRT1:c.572T>G phenoCommon BCIE/EHK HIFD_KRT1:c.508_519del12 commonName c.508_519delGACCCTGAGATC HIFD_KRT1:c.508_519del12 protEffect p.Asp170_Ile173del HIFD_KRT1:c.508_519del12 phenoCommon BCIE/EHK HIFD_KRT1:c.1436T>C phenoCommon EPPK HIFD_KRT1:c.591+3_591+6delGAGT commonName c.591+3_591+6delGAGT HIFD_KRT1:c.591+3_591+6delGAGT protEffect p.Val176_Lys197del HIFD_KRT1:c.591+3_591+6delGAGT phenoCommon BCIE/EHK HIFD_KRT1:c.1441A>C commonName c.1441A>C HIFD_KRT1:c.1441A>C protEffect p.Thr481Pro HIFD_KRT1:c.1441A>C phenoCommon BCIE/EHK HIFD_KRT1:c.563A>G phenoCommon GS HIFD_KRT1:c.559C>T commonName c.559C>T HIFD_KRT1:c.559C>T protEffect p.Leu187Phe HIFD_KRT1:c.559C>T phenoCommon BCIE/EHK HIFD_KRT1:c.1556_1556delG commonName c.1556_1556delG HIFD_KRT1:c.1556_1556delG protEffect p.Gly519GlufsX94 HIFD_KRT1:c.1556_1556delG phenoCommon IHCM HIFD_KRT1:c.698C>T commonName c.698C>T HIFD_KRT1:c.698C>T protEffect p.Ser233Leu HIFD_KRT1:c.698C>T phenoCommon EPPK HIFD_KRT1:c.1469A>G commonName c.1469A>G HIFD_KRT1:c.1469A>G protEffect p.Glu490Gly HIFD_KRT1:c.1469A>G phenoCommon BCIE/EHK HIFD_KRT1:c.623T>C commonName c.623T>C HIFD_KRT1:c.623T>C protEffect p.Leu208Pro HIFD_KRT1:c.623T>C phenoCommon BCIE/EHK HIFD_KRT1:c.571T>A commonName c.571T>A HIFD_KRT1:c.571T>A protEffect p.Phe191Ile HIFD_KRT1:c.571T>A phenoCommon BCIE/EHK HIFD_KRT1:c.1465G>A commonName c.1465G>A HIFD_KRT1:c.1465G>A protEffect p.Glu489Lys HIFD_KRT1:c.1465G>A phenoCommon BCIE/EHK HIFD_KRT1:c.591+2T>A phenoCommon BCIE/EHK HIFD_KRT1:c.1019A>G commonName c.1019A>G HIFD_KRT1:c.1019A>G protEffect p.Asp340Gly HIFD_KRT1:c.1019A>G phenoCommon BCIE/EHK HIFD_KRT1:c.1310T>C commonName c.1310T>C HIFD_KRT1:c.1310T>C protEffect p.Leu437Pro HIFD_KRT1:c.1310T>C phenoCommon NEPPK HIFD_KRT1:c.698C>T phenoCommon NEPPK HIFD_KRT1:c.693T>G commonName c.693T>G HIFD_KRT1:c.693T>G protEffect p.Phe231Leu HIFD_KRT1:c.693T>G phenoCommon NEPPK HIFD_KRT1:c.1457T>G commonName c.1457T>G HIFD_KRT1:c.1457T>G protEffect p.Leu486Arg HIFD_KRT1:c.1457T>G phenoCommon BCIE/EHK HIFD_KRT1:c.563A>G phenoCommon CIEH HIFD_KRT1:c.564C>A phenoCommon ADLD HIFD_KRT1:c.1432G>C commonName c.1432G>C HIFD_KRT1:c.1432G>C protEffect p.Glu478Gln HIFD_KRT1:c.1432G>C phenoCommon CIEH HIFD_KRT1:c.1436T>C phenoCommon CIEH HIFD_KRT1:c.1454T>C commonName c.1454T>C HIFD_KRT1:c.1454T>C protEffect p.Leu485Pro HIFD_KRT1:c.1454T>C phenoCommon CIEH HIFD_KRT1:c.1457T>C phenoCommon CIEH HIFD_KRT1:c.1468G>A commonName c.1468G>A HIFD_KRT1:c.1468G>A protEffect p.Glu490Lys HIFD_KRT1:c.1468G>A phenoCommon CIEH HIFD_KRT1:c.1861_1861insT commonName c.1861_1861insT HIFD_KRT1:c.1861_1861insT protEffect p.Gly621ValfsX32 HIFD_KRT1:c.1861_1861insT phenoCommon IHCM HIFD_KRT2:c.1459G>A commonName c.1459G>A HIFD_KRT2:c.1459G>A protEffect p.Glu487Lys HIFD_KRT2:c.1459G>A phenoCommon IBS HIFD_KRT2:c.1461G>T commonName c.1461G>T HIFD_KRT2:c.1461G>T protEffect p.Glu487Asp HIFD_KRT2:c.1461G>T phenoCommon IBS HIFD_KRT2:c.542A>T commonName c.542A>T HIFD_KRT2:c.542A>T protEffect p.Gln181Pro HIFD_KRT2:c.542A>T phenoCommon IBS HIFD_KRT2:c.1451T>C commonName c.1451T>C HIFD_KRT2:c.1451T>C protEffect p.Leu484Pro HIFD_KRT2:c.1451T>C phenoCommon IBS HIFD_KRT2:c.1462G>A commonName c.1462G>A HIFD_KRT2:c.1462G>A protEffect p.Glu488Lys HIFD_KRT2:c.1462G>A phenoCommon IBS HIFD_KRT2:c.1435A>C commonName c.1435A>C HIFD_KRT2:c.1435A>C protEffect p.Thr479Pro HIFD_KRT2:c.1435A>C phenoCommon IBS HIFD_KRT2:c.1426G>A commonName c.1426G>A HIFD_KRT2:c.1426G>A protEffect p.Glu476Lys HIFD_KRT2:c.1426G>A phenoCommon IBS HIFD_KRT2:c.556A>T commonName c.556A>T HIFD_KRT2:c.556A>T protEffect p.Asn186Tyr HIFD_KRT2:c.556A>T phenoCommon IBS HIFD_KRT2:c.545T>A commonName c.545T>A HIFD_KRT2:c.545T>A protEffect p.Ile182Asn HIFD_KRT2:c.545T>A phenoCommon IBS HIFD_KRT2:c.1427A>T commonName c.1427A>T HIFD_KRT2:c.1427A>T protEffect p.Glu476Val HIFD_KRT2:c.1427A>T phenoCommon IBS HIFD_KRT2:c.607A>G commonName c.607A>G HIFD_KRT2:c.607A>G protEffect p.Asn192Asp HIFD_KRT2:c.607A>G phenoCommon IBS HIFD_KRT2:c.1448T>A commonName c.1448T>A HIFD_KRT2:c.1448T>A protEffect p.Leu483Gln HIFD_KRT2:c.1448T>A phenoCommon IBS HIFD_KRT2:c.558C>A commonName c.558C>A HIFD_KRT2:c.558C>A protEffect p.Asn186Lys HIFD_KRT2:c.558C>A phenoCommon IBS HIFD_KRT2:c.532G>A commonName c.532G>A HIFD_KRT2:c.532G>A protEffect p.Glu178Lys HIFD_KRT2:c.532G>A phenoCommon IBS HIFD_KRT3:c.1525G>A commonName c.1525G>A HIFD_KRT3:c.1525G>A protEffect p.Glu509Lys HIFD_KRT3:c.1525G>A phenoCommon MCD HIFD_KRT3:c.1508G>C commonName c.1508G>C HIFD_KRT3:c.1508G>C protEffect p.Arg503Pro HIFD_KRT3:c.1508G>C phenoCommon MCD HIFD_KRT3:c.1493A>T commonName c.1493A>T HIFD_KRT3:c.1493A>T protEffect p.Glu498Val HIFD_KRT3:c.1493A>T phenoCommon MCD HIFD_KRT4:c.657_659delCAA commonName c.657_659delCAA HIFD_KRT4:c.657_659delCAA protEffect p.Asn220del HIFD_KRT4:c.657_659delCAA phenoCommon WSN HIFD_KRT4:c.638_639insACA commonName c.638_639insACA HIFD_KRT4:c.638_639insACA protEffect p.Glu213_Gln214insGln HIFD_KRT4:c.638_639insACA phenoCommon WSN HIFD_KRT4:c.1525G>A commonName c.1525G>A HIFD_KRT4:c.1525G>A protEffect p.Glu509Lys HIFD_KRT4:c.1525G>A phenoCommon WSN HIFD_KRT4:c.*269A>G commonName c.*269A>G HIFD_KRT4:c.*269A>G protEffect p.= HIFD_KRT4:c.*269A>G phenoCommon WSN HIFD_KRT4:c.1558G>A commonName c.1558G>A HIFD_KRT4:c.1558G>A protEffect p.Glu520Lys HIFD_KRT4:c.1558G>A phenoCommon WSN HIFD_KRT5:c.1424A>G commonName c.1424A>G HIFD_KRT5:c.1424A>G protEffect p.Glu475Gly HIFD_KRT5:c.1424A>G phenoCommon EBS-DM HIFD_KRT5:c.991C>T commonName c.991C>T HIFD_KRT5:c.991C>T protEffect p.Arg331Cys HIFD_KRT5:c.991C>T phenoCommon EBS-WC HIFD_KRT5:c.980T>C commonName c.980T>C HIFD_KRT5:c.980T>C protEffect p.Met327Thr HIFD_KRT5:c.980T>C phenoCommon EBS-WC HIFD_KRT5:c.987C>A commonName c.987C>A HIFD_KRT5:c.987C>A protEffect p.Asn329Lys HIFD_KRT5:c.987C>A phenoCommon EBS-WC HIFD_KRT5:c.519G>C commonName c.519G>C HIFD_KRT5:c.519G>C protEffect p.Lys173Asn HIFD_KRT5:c.519G>C phenoCommon EBS-K HIFD_KRT5:c.482T>G commonName c.482T>G HIFD_KRT5:c.482T>G protEffect p.Ile161Ser HIFD_KRT5:c.482T>G phenoCommon EBS-WC HIFD_KRT5:c.1388T>C commonName c.1388T>C HIFD_KRT5:c.1388T>C protEffect p.Leu463Pro HIFD_KRT5:c.1388T>C phenoCommon EBS-K HIFD_KRT5:c.983A>T commonName c.983A>T HIFD_KRT5:c.983A>T protEffect p.Asp328Val HIFD_KRT5:c.983A>T phenoCommon EBS-WC HIFD_KRT5:c.523C>T commonName c.523C>T HIFD_KRT5:c.523C>T protEffect p.Leu175Phe HIFD_KRT5:c.523C>T phenoCommon EBS-DM HIFD_KRT5:c.74C>T commonName c.74C>T HIFD_KRT5:c.74C>T protEffect p.Pro25Leu HIFD_KRT5:c.74C>T phenoCommon EBS-MP HIFD_KRT5:c.579C>G commonName c.579C>G HIFD_KRT5:c.579C>G protEffect p.Asn193Lys HIFD_KRT5:c.579C>G phenoCommon EBS-WC HIFD_KRT5:c.1429G>A commonName c.1429G>A HIFD_KRT5:c.1429G>A protEffect p.Glu477Lys HIFD_KRT5:c.1429G>A phenoCommon EBS-DM HIFD_KRT5:c.536T>C commonName c.536T>C HIFD_KRT5:c.536T>C protEffect p.Phe179Ser HIFD_KRT5:c.536T>C phenoCommon EBS-DM HIFD_KRT5:c.527A>G commonName c.527A>G HIFD_KRT5:c.527A>G protEffect p.Asn176Ser HIFD_KRT5:c.527A>G phenoCommon EBS-DM HIFD_KRT5:c.1400T>C commonName c.1400T>C HIFD_KRT5:c.1400T>C protEffect p.Ile467Thr HIFD_KRT5:c.1400T>C phenoCommon EBS-DM HIFD_KRT5:c.968T>C commonName c.968T>C HIFD_KRT5:c.968T>C protEffect p.Val323Ala HIFD_KRT5:c.968T>C phenoCommon EBS-K HIFD_KRT5:c.980T>A commonName c.980T>A HIFD_KRT5:c.980T>A protEffect p.Met327Lys HIFD_KRT5:c.980T>A phenoCommon EBS-WC HIFD_KRT5:c.455C>T commonName c.455C>T HIFD_KRT5:c.455C>T protEffect p.Pro152Leu HIFD_KRT5:c.455C>T phenoCommon EBS-WC HIFD_KRT5:c.982G>C commonName c.982G>C HIFD_KRT5:c.982G>C protEffect p.Asp328His HIFD_KRT5:c.982G>C phenoCommon EBS-WC HIFD_KRT5:c.974T>C commonName c.974T>C HIFD_KRT5:c.974T>C protEffect p.Leu325Pro HIFD_KRT5:c.974T>C phenoCommon EBS-DM HIFD_KRT5:c.490_555del66 commonName c.490_555delGTGAGGACCGAGGAGCGCGAGCAGATCAAGACCCTCAACAATAAGTTTGCCTCCTTCATCGACAAG HIFD_KRT5:c.490_555del66 protEffect p.Val164_Lys185del HIFD_KRT5:c.490_555del66 phenoCommon EBS-DM HIFD_KRT5:c.1429G>T commonName c.1429G>T HIFD_KRT5:c.1429G>T protEffect p.Glu477X HIFD_KRT5:c.1429G>T phenoCommon EBS-DM HIFD_KRT5:c.541T>C commonName c.541T>C HIFD_KRT5:c.541T>C protEffect p.Ser181Pro HIFD_KRT5:c.541T>C phenoCommon EBS-DM HIFD_KRT5:c.984C>A commonName c.984C>A HIFD_KRT5:c.984C>A protEffect p.Asp328Glu HIFD_KRT5:c.984C>A phenoCommon EBS-WC HIFD_KRT5:c.556G>T commonName c.556G>T HIFD_KRT5:c.556G>T protEffect p.Val186Leu HIFD_KRT5:c.556G>T phenoCommon EBS-K HIFD_KRT5:c.1414A>T commonName c.1414A>T HIFD_KRT5:c.1414A>T protEffect p.Lys472X HIFD_KRT5:c.[508G>C; =]+[=; 1252G>A] commonName c.[508G>C; =]+[=; 1252G>A] HIFD_KRT5:c.[508G>C; =]+[=; 1252G>A] protEffect p.[Glu170Lys; =]+[=; Glu418Lys] HIFD_KRT5:c.[508G>C; =]+[=; 1252G>A] phenoCommon REBS-K HIFD_KRT5:c.1635_1635delG commonName c.1635_1635delG HIFD_KRT5:c.1635_1635delG protEffect p.Leu546SerfsX82 HIFD_KRT5:c.1635_1635delG phenoCommon EBS-WC HIFD_KRT5:c.1210A>G commonName c.1210A>G HIFD_KRT5:c.1210A>G protEffect p.Lys404Glu HIFD_KRT5:c.1210A>G phenoCommon EBS-WC HIFD_KRT5:c.1313C>A commonName c.1313C>A HIFD_KRT5:c.1313C>A protEffect p.Ala438Asp HIFD_KRT5:c.1313C>A phenoCommon EBS-WC HIFD_KRT5:c.1423G>A commonName c.1423G>A HIFD_KRT5:c.1423G>A protEffect p.Glu475Lys HIFD_KRT5:c.1423G>A phenoCommon EBS-DM HIFD_KRT5:c.556-1G>C commonName c.556-1G>C HIFD_KRT5:c.556-1G>C protEffect p.Val186_Gln189del HIFD_KRT5:c.556-1G>C phenoCommon EBS-K HIFD_KRT5:c.932T>G commonName c.932T>G HIFD_KRT5:c.932T>G protEffect p.Leu311Arg HIFD_KRT5:c.932T>G phenoCommon EBS-WC HIFD_KRT5:c.499G>A commonName c.499G>A HIFD_KRT5:c.499G>A protEffect p.Glu167Lys HIFD_KRT5:c.499G>A phenoCommon EBS-WC HIFD_KRT5:c.971T>A commonName c.971T>A HIFD_KRT5:c.971T>A protEffect p.Val324Asp HIFD_KRT5:c.971T>A phenoCommon EBS-WC HIFD_KRT5:c.547A>T commonName c.547A>T HIFD_KRT5:c.547A>T protEffect p.Ile183Phe HIFD_KRT5:c.547A>T phenoCommon EBS-DM HIFD_KRT5:c.1649_1649delG commonName c.1649_1649delG HIFD_KRT5:c.1649_1649delG protEffect p.Gly550AlafsX77 HIFD_KRT5:c.1649_1649delG phenoCommon EBS-MCE HIFD_KRT5:c.596A>C commonName c.596A>C HIFD_KRT5:c.596A>C protEffect p.Lys199Thr HIFD_KRT5:c.596A>C phenoCommon EBS-WC HIFD_KRT5:c.530A>G commonName c.530A>G HIFD_KRT5:c.530A>G protEffect p.Asn177Ser HIFD_KRT5:c.530A>G phenoCommon EBS-WC HIFD_KRT5:c.983A>G commonName c.983A>G HIFD_KRT5:c.983A>G protEffect p.Asp328Gly HIFD_KRT5:c.983A>G phenoCommon EBS-WC HIFD_KRT5:c.539C>A commonName c.539C>A HIFD_KRT5:c.539C>A protEffect p.Ala180Asp HIFD_KRT5:c.539C>A phenoCommon EBS-DM HIFD_KRT5:c.1430A>G commonName c.1430A>G HIFD_KRT5:c.1430A>G protEffect p.Glu477Gly HIFD_KRT5:c.1430A>G phenoCommon EBS-WC HIFD_KRT5:c.974T>C phenoCommon EBS-WC HIFD_KRT5:c.1285_1299del15 commonName c.1285_1299delAGGAACAAGCTGGCC HIFD_KRT5:c.1285_1299del15 protEffect p.Arg429_Ala433del HIFD_KRT5:c.1285_1299del15 phenoCommon EBS-DM HIFD_KRT5:c.1649delG commonName c.1649delG HIFD_KRT5:c.1649delG protEffect p.Gly550AlafsX77 HIFD_KRT5:c.1649delG phenoCommon EBS-MP HIFD_KRT5:c.547_549delATC commonName c.547_549delATC HIFD_KRT5:c.547_549delATC protEffect p.Ile183del HIFD_KRT5:c.547_549delATC phenoCommon EBS-DM HIFD_KRT5:c.1401C>G commonName c.1401C>G HIFD_KRT5:c.1401C>G protEffect p.Ile467Met HIFD_KRT5:c.1401C>G phenoCommon EBS-K HIFD_KRT5:c.14C>A commonName c.14C>A HIFD_KRT5:c.14C>A protEffect p.Ser5X HIFD_KRT5:c.14C>A phenoCommon DDD HIFD_KRT5:c.418dupA commonName c.418dupA HIFD_KRT5:c.418dupA protEffect p.Ile140AsnfsX39 HIFD_KRT5:c.418dupA phenoCommon DDD HIFD_KRT5:c.1427G>C commonName c.1427G>C HIFD_KRT5:c.1427G>C protEffect p.Gly476Asp HIFD_KRT5:c.1427G>C phenoCommon EBS-WC HIFD_KRT5:c.596A>G commonName c.596A>G HIFD_KRT5:c.596A>G protEffect p.Lys199Arg HIFD_KRT5:c.596A>G phenoCommon EBS-WC HIFD_KRT5:c.502G>A commonName c.502G>A HIFD_KRT5:c.502G>A protEffect p.Glu168Lys HIFD_KRT5:c.502G>A phenoCommon EBS-DM HIFD_KRT5:c.506G>C commonName c.506G>C HIFD_KRT5:c.506G>C protEffect p.Arg169Pro HIFD_KRT5:c.506G>C phenoCommon EBS-DM HIFD_KRT5:c.568G>A commonName c.568G>A HIFD_KRT5:c.568G>A protEffect p.Glu190Lys HIFD_KRT5:c.568G>A phenoCommon EBS-WC HIFD_KRT5:c.992G>A commonName c.992G>A HIFD_KRT5:c.992G>A protEffect p.Arg331His HIFD_KRT5:c.992G>A phenoCommon EBS-WC HIFD_KRT5:c.1405A>C commonName c.1405A>C HIFD_KRT5:c.1405A>C protEffect p.Thr469Pro HIFD_KRT5:c.1405A>C phenoCommon EBS-DM HIFD_KRT5:c.508G>A commonName c.508G>A HIFD_KRT5:c.508G>A protEffect p.Glu170Lys HIFD_KRT5:c.508G>A phenoCommon EBS-WC HIFD_KRT5:c.442_443delAG commonName c.442_443delAG HIFD_KRT5:c.442_443delAG protEffect p.Leu149ProfsX29 HIFD_KRT5:c.442_443delAG phenoCommon DDD HIFD_KRT5:c.473A>T commonName c.473A>T HIFD_KRT5:c.473A>T protEffect p.Asp158Val HIFD_KRT5:c.473A>T phenoCommon EBS-WC HIFD_KRT5:c.428T>A commonName c.428T>A HIFD_KRT5:c.428T>A protEffect p.Val143Asp HIFD_KRT5:c.428T>A phenoCommon EBS-K HIFD_KRT5:c.572A>C commonName c.572A>C HIFD_KRT5:c.572A>C protEffect p.Gln191Pro HIFD_KRT5:c.572A>C phenoCommon EBS-K HIFD_KRT5:c.556G>A commonName c.556G>A HIFD_KRT5:c.556G>A protEffect p.Val186Met HIFD_KRT5:c.556G>A phenoCommon EBS-K HIFD_KRT5:c.1550G>A commonName c.1550G>A HIFD_KRT5:c.1550G>A protEffect p.Gly517Asp HIFD_KRT5:c.1550G>A phenoCommon EBS-K HIFD_KRT5:c.1054C>A commonName c.1054C>A HIFD_KRT5:c.1054C>A protEffect p.Arg352Ser HIFD_KRT5:c.1054C>A phenoCommon EBS-WC HIFD_KRT5:c.473A>T phenoCommon EBS-K HIFD_KRT5:c.579C>T commonName c.579C>T HIFD_KRT5:c.579C>T protEffect p.Asn193Lys HIFD_KRT5:c.579C>T phenoCommon EBS-K HIFD_KRT5:c.509A>G commonName c.509A>G HIFD_KRT5:c.509A>G protEffect p.Glu170Gly HIFD_KRT5:c.509A>G phenoCommon EBS-K HIFD_KRT5:c.986A>G commonName c.986A>G HIFD_KRT5:c.986A>G protEffect p.Asn329Ser HIFD_KRT5:c.986A>G phenoCommon EBS-WC HIFD_KRT5:c.1283C>T commonName c.1283C>T HIFD_KRT5:c.1283C>T protEffect p.Ala428Val HIFD_KRT5:c.1283C>T phenoCommon EBS-K HIFD_KRT5:c.1399A>C commonName c.1399A>C HIFD_KRT5:c.1399A>C protEffect p.Ile467Leu HIFD_KRT5:c.1399A>C phenoCommon EBS-WC HIFD_KRT5:c.449T>C commonName c.449T>C HIFD_KRT5:c.449T>C protEffect p.Leu150Pro HIFD_KRT5:c.449T>C phenoCommon EBS-K HIFD_KRT5:c.1398G>C commonName c.1398G>C HIFD_KRT5:c.1398G>C protEffect p.Glu466Asp HIFD_KRT5:c.1398G>C phenoCommon EBS-K HIFD_KRT5:c.593C>G commonName c.593C>G HIFD_KRT5:c.593C>G protEffect p.Thr198Ser HIFD_KRT5:c.593C>G phenoCommon EBS-WC HIFD_KRT5:c.489G>T commonName c.489G>T HIFD_KRT5:c.489G>T protEffect p.Arg165Ser HIFD_KRT5:c.489G>T phenoCommon EBS-DM HIFD_KRT5:c.547A>G commonName c.547A>G HIFD_KRT5:c.547A>G protEffect p.Ile183Val HIFD_KRT5:c.547A>G phenoCommon EBS-WC HIFD_KRT5:c.570G>C commonName c.570G>C HIFD_KRT5:c.570G>C protEffect p.Glu190Asp HIFD_KRT5:c.570G>C phenoCommon EBS-WC HIFD_KRT5:c.991C>G commonName c.991C>G HIFD_KRT5:c.991C>G protEffect p.Arg331Gly HIFD_KRT5:c.991C>G phenoCommon EBS-WC HIFD_KRT5:c.971T>C commonName c.971T>C HIFD_KRT5:c.971T>C protEffect p.Val324Ala HIFD_KRT5:c.971T>C phenoCommon EBS-WC HIFD_KRT5:c.1432G>A commonName c.1432G>A HIFD_KRT5:c.1432G>A protEffect p.Glu478Lys HIFD_KRT5:c.1432G>A phenoCommon EBS-DM HIFD_KRT5:c.596A>T commonName c.596A>T HIFD_KRT5:c.596A>T protEffect p.Lys199Met HIFD_KRT5:c.596A>T phenoCommon EBS-WC HIFD_KRT5:c.427G>T commonName c.427G>T HIFD_KRT5:c.427G>T protEffect p.Val143Phe HIFD_KRT5:c.427G>T phenoCommon EBS-K HIFD_KRT5:c.794G>C commonName c.794G>C HIFD_KRT5:c.794G>C protEffect p.Arg265Pro HIFD_KRT5:c.794G>C phenoCommon EBS-K HIFD_KRT5:c.1437delC commonName c.1437delC HIFD_KRT5:c.1437delC protEffect p.Cys479X HIFD_KRT5:c.1437delC phenoCommon EBS-DM HIFD_KRT5:c.531_533delTAA commonName c.531_533delTAA HIFD_KRT5:c.531_533delTAA protEffect p.Asn177del HIFD_KRT5:c.531_533delTAA phenoCommon EBS-DM HIFD_KRT5:c.1730T>A commonName c.1730T>A HIFD_KRT5:c.1730T>A protEffect p.Phe577Tyr HIFD_KRT5:c.1730T>A phenoCommon EBS-K HIFD_KRT5:c.549C>G commonName c.549C>G HIFD_KRT5:c.549C>G protEffect p.Ile183Met HIFD_KRT5:c.549C>G phenoCommon EBS-DM HIFD_KRT5:c.428T>C commonName c.428T>C HIFD_KRT5:c.428T>C protEffect p.Val143Ala HIFD_KRT5:c.428T>C phenoCommon EBS-WC HIFD_KRT5:c.2T>C commonName c.2T>C HIFD_KRT5:c.2T>C protEffect p.Met1Thr HIFD_KRT5:c.2T>C phenoCommon DDD HIFD_KRT5:c.514A>G commonName c.514A>G HIFD_KRT5:c.514A>G protEffect p.Ile172Val HIFD_KRT5:c.514A>G phenoCommon EBS-K HIFD_KRT5:c.991C>A commonName c.991C>A HIFD_KRT5:c.991C>A protEffect p.Arg331Ser HIFD_KRT5:c.991C>A phenoCommon EBS-K HIFD_KRT5:c.1438A>G commonName c.1438A>G HIFD_KRT5:c.1438A>G protEffect p.Arg480Gly HIFD_KRT5:c.1438A>G phenoCommon EBS-K HIFD_KRT5:c.1636C>A commonName c.1636C>A HIFD_KRT5:c.1636C>A protEffect p.Leu546Ile HIFD_KRT5:c.1636C>A phenoCommon EBS-K HIFD_KRT5:c.568G>A phenoCommon EBS-K HIFD_KRT5:c.579C>A commonName c.579C>A HIFD_KRT5:c.579C>A protEffect p.Asn193Lys HIFD_KRT5:c.579C>A phenoCommon EBS-K HIFD_KRT5:c.991C>T phenoCommon EBS-K HIFD_KRT5:c.992G>A phenoCommon EBS-K HIFD_KRT5:c.1649delG phenoCommon EBS-MCE HIFD_KRT5:c.413G>A commonName c.413G>A HIFD_KRT5:c.413G>A protEffect p.Gly138Glu HIFD_KRT5:c.413G>A phenoCommon EBS-MP HIFD_KRT5:c.[418dupA]+[982G>C] commonName c.[418dupA]+[982G>C] HIFD_KRT5:c.[418dupA]+[982G>C] protEffect p.[Ile140AsnfsX0]+[Asp328His] HIFD_KRT5:c.[418dupA]+[982G>C] phenoCommon EBS-MP HIFD_KRT5:c.1362_1365delGGAGinsAGCTGGTA commonName c.1362_1365delGGAGinsAGCTGGTA HIFD_KRT5:c.1362_1365delGGAGinsAGCTGGTA protEffect p.Glu455AlafsX117 HIFD_KRT5:c.1362_1365delGGAGinsAGCTGGTA phenoCommon EBS-K HIFD_KRT5:c.1411C>T commonName c.1411C>T HIFD_KRT5:c.1411C>T protEffect p.Arg471Cys HIFD_KRT5:c.1411C>T phenoCommon EBS-K HIFD_KRT5:c.1427G>A commonName c.1427G>A HIFD_KRT5:c.1427G>A protEffect p.Gly476Asp HIFD_KRT5:c.1427G>A phenoCommon EBS-WC HIFD_KRT5:c.446T>C commonName c.446T>C HIFD_KRT5:c.446T>C protEffect p.Leu149Pro HIFD_KRT5:c.446T>C phenoCommon REBS-WC HIFD_KRT5:c.451A>C commonName c.451A>C HIFD_KRT5:c.451A>C protEffect p.Thr151Pro HIFD_KRT5:c.451A>C phenoCommon EBS-WC HIFD_KRT5:c.509A>G phenoCommon EBS-WC HIFD_KRT5:c.539C>A phenoCommon REBS-K HIFD_KRT5:c.538G>C commonName c.538G>C HIFD_KRT5:c.538G>C protEffect p.Ala180Pro HIFD_KRT5:c.538G>C phenoCommon EBS-DM HIFD_KRT5:c.596A>T phenoCommon REBS-WC HIFD_KRT5:c.968T>C phenoCommon EBS-WC HIFD_KRT5:c.560G>C commonName c.560G>C HIFD_KRT5:c.560G>C protEffect p.Arg187Pro HIFD_KRT5:c.560G>C phenoCommon EBS-WC HIFD_KRT5:c.1329G>C commonName c.1329G>C HIFD_KRT5:c.1329G>C protEffect p.Lys443Asn HIFD_KRT5:c.1329G>C phenoCommon EBS-WC HIFD_KRT5:c.1401C>G phenoCommon REBS-K HIFD_KRT5:c.1427G>A phenoCommon EPPK HIFD_KRT5:c.1474+4A>G commonName c.1474+4A>G HIFD_KRT5:c.1474+4A>G protEffect p.? HIFD_KRT5:c.1474+4A>G phenoCommon EBS-WC HIFD_KRT5:c.1635delG commonName c.1635delG HIFD_KRT5:c.1635delG protEffect p.Leu546SerfsX82 HIFD_KRT5:c.1635delG phenoCommon REBS-K HIFD_KRT5:c.10C>T commonName c.10C>T HIFD_KRT5:c.10C>T protEffect p.Gln4X HIFD_KRT5:c.10C>T phenoCommon DDD HIFD_KRT5:c.508G>A phenoCommon EBS-K HIFD_KRT5:c.495G>T commonName c.495G>T HIFD_KRT5:c.495G>T protEffect p.Arg165Ser HIFD_KRT5:c.495G>T phenoCommon EBS-DM HIFD_KRT5:c.557T>A commonName c.557T>A HIFD_KRT5:c.557T>A protEffect p.Val186Glu HIFD_KRT5:c.557T>A phenoCommon EBS-WC HIFD_KRT5:c.1282G>A commonName c.1282G>A HIFD_KRT5:c.1282G>A protEffect p.Ala428Thr HIFD_KRT5:c.1282G>A phenoCommon EBS-WC HIFD_KRT6A:c.514_516delAAC commonName c.514_516delAAC HIFD_KRT6A:c.514_516delAAC protEffect p.Asn172del HIFD_KRT6A:c.514_516delAAC phenoCommon PC-1 HIFD_KRT6A:c.521T>C commonName c.521T>C HIFD_KRT6A:c.521T>C protEffect p.Phe174Ser HIFD_KRT6A:c.521T>C phenoCommon PC-1 HIFD_KRT6A:c.513C>A commonName c.513C>A HIFD_KRT6A:c.513C>A protEffect p.Asn171Lys HIFD_KRT6A:c.513C>A phenoCommon PC-1 HIFD_KRT6A:c.520T>G commonName c.520T>G HIFD_KRT6A:c.520T>G protEffect p.Phe174Val HIFD_KRT6A:c.520T>G phenoCommon PC-1 HIFD_KRT6A:c.1406T>G commonName c.1406T>G HIFD_KRT6A:c.1406T>G protEffect p.Leu469Arg HIFD_KRT6A:c.1406T>G phenoCommon PC-1 HIFD_KRT6A:c.1414G>A commonName c.1414G>A HIFD_KRT6A:c.1414G>A protEffect p.Glu472Lys HIFD_KRT6A:c.1414G>A phenoCommon PC-1 HIFD_KRT6A:c.1385T>G commonName c.1385T>G HIFD_KRT6A:c.1385T>G protEffect p.Ile462Ser HIFD_KRT6A:c.1385T>G phenoCommon PC-1 HIFD_KRT6A:c.1390A>C commonName c.1390A>C HIFD_KRT6A:c.1390A>C protEffect p.Thr464Pro HIFD_KRT6A:c.1390A>C phenoCommon PC-1 HIFD_KRT6A:c.500T>A commonName c.500T>A HIFD_KRT6A:c.500T>A protEffect p.Ile167Asn HIFD_KRT6A:c.500T>A phenoCommon PC-1 HIFD_KRT6A:c.508C>T commonName c.508C>T HIFD_KRT6A:c.508C>T protEffect p.Leu170Phe HIFD_KRT6A:c.508C>T phenoCommon PC-1 HIFD_KRT6A:c.512A>G commonName c.512A>G HIFD_KRT6A:c.512A>G protEffect p.Asn171Ser HIFD_KRT6A:c.512A>G phenoCommon PC-1 HIFD_KRT6A:c.526T>C commonName c.526T>C HIFD_KRT6A:c.526T>C protEffect p.Ser176Pro HIFD_KRT6A:c.526T>C phenoCommon PC-1 HIFD_KRT6A:c.1385T>A commonName c.1385T>A HIFD_KRT6A:c.1385T>A protEffect p.Ile462Asn HIFD_KRT6A:c.1385T>A phenoCommon PC-1 HIFD_KRT6A:c.1403T>C commonName c.1403T>C HIFD_KRT6A:c.1403T>C protEffect p.Leu468Pro HIFD_KRT6A:c.1403T>C phenoCommon PC-1 HIFD_KRT6A:c.1406T>C commonName c.1406T>C HIFD_KRT6A:c.1406T>C protEffect p.Leu469Pro HIFD_KRT6A:c.1406T>C phenoCommon PC-1 HIFD_KRT6A:c.1410_1411ins117 commonName c.1410_1411insGATGCCCTGCAGAAGGCCAAGCAGGACCTGGCCCGGCTGCTGAAGGAGTACCAGGAGCTGATGAATGTCAAGCTGGCCCTGGACGTGGAGATCGCCACCTACCGCAAGCTGCTGGAG HIFD_KRT6A:c.1410_1411ins117 protEffect p.Glu470_Gly471ins39 HIFD_KRT6A:c.1410_1411ins117 phenoCommon PC-1 HIFD_KRT6A:c.491G>C commonName c.491G>C HIFD_KRT6A:c.491G>C protEffect p.Arg164Pro HIFD_KRT6A:c.491G>C phenoCommon PC-1 HIFD_KRT6A:c.511A>G commonName c.511A>G HIFD_KRT6A:c.511A>G protEffect p.Asn171Asp HIFD_KRT6A:c.511A>G phenoCommon PC-1 HIFD_KRT6A:c.1403T>A commonName c.1403T>A HIFD_KRT6A:c.1403T>A protEffect p.Leu468Gln HIFD_KRT6A:c.1403T>A phenoCommon PC-1 HIFD_KRT6A:c.511A>T commonName c.511A>T HIFD_KRT6A:c.511A>T protEffect p.Asn171Tyr HIFD_KRT6A:c.511A>T phenoCommon PC-1 HIFD_KRT6A:c.521T>G commonName c.521T>G HIFD_KRT6A:c.521T>G protEffect p.Phe174Cys HIFD_KRT6A:c.521T>G phenoCommon PC-1 HIFD_KRT6A:c.497A>C commonName c.497A>C HIFD_KRT6A:c.497A>C protEffect p.Gln166Pro HIFD_KRT6A:c.497A>C phenoCommon PC-1 HIFD_KRT6A:c.533T>A commonName c.533T>A HIFD_KRT6A:c.533T>A protEffect p.Ile178Asn HIFD_KRT6A:c.533T>A phenoCommon PC-1 HIFD_KRT6A:c.1387G>C commonName c.1387G>C HIFD_KRT6A:c.1387G>C protEffect p.Ala463Pro HIFD_KRT6A:c.1387G>C phenoCommon PC-1 HIFD_KRT6A:c.1393T>C commonName c.1393T>C HIFD_KRT6A:c.1393T>C protEffect p.Tyr465His HIFD_KRT6A:c.1393T>C phenoCommon PC-1 HIFD_KRT6A:c.487G>A commonName c.487G>A HIFD_KRT6A:c.487G>A protEffect p.Glu163Lys HIFD_KRT6A:c.487G>A phenoCommon PC-1 HIFD_KRT6A:c.500T>G commonName c.500T>G HIFD_KRT6A:c.500T>G protEffect p.Ile167Ser HIFD_KRT6A:c.500T>G phenoCommon PC-1 HIFD_KRT6A:c.512A>C commonName c.512A>C HIFD_KRT6A:c.512A>C protEffect p.Asn171Thr HIFD_KRT6A:c.512A>C phenoCommon PC-1 HIFD_KRT6A:c.541-1G>C commonName c.541-1G>C HIFD_KRT6A:c.541-1G>C protEffect p.? HIFD_KRT6A:c.541-1G>C phenoCommon PC-1 HIFD_KRT6A:c.541-1G>T commonName c.541-1G>T HIFD_KRT6A:c.541-1G>T protEffect p.? HIFD_KRT6A:c.541-1G>T phenoCommon PC-1 HIFD_KRT6A:c.541-2A>C commonName c.541-2A>C HIFD_KRT6A:c.541-2A>C protEffect p.? HIFD_KRT6A:c.541-2A>C phenoCommon PC-1 HIFD_KRT6A:c.541-2A>G commonName c.541-2A>G HIFD_KRT6A:c.541-2A>G protEffect p.? HIFD_KRT6A:c.541-2A>G phenoCommon PC-1 HIFD_KRT6A:c.1303C>T commonName c.1303C>T HIFD_KRT6A:c.1303C>T protEffect p.Gln435X HIFD_KRT6A:c.1303C>T phenoCommon PC-1 HIFD_KRT6A:c.1381G>A commonName c.1381G>A HIFD_KRT6A:c.1381G>A protEffect p.Glu461Lys HIFD_KRT6A:c.1381G>A phenoCommon PC-1 HIFD_KRT6A:c.1381G>C commonName c.1381G>C HIFD_KRT6A:c.1381G>C protEffect p.Glu461Gln HIFD_KRT6A:c.1381G>C phenoCommon PC-1 HIFD_KRT6A:c.1394A>G commonName c.1394A>G HIFD_KRT6A:c.1394A>G protEffect p.Tyr465Cys HIFD_KRT6A:c.1394A>G phenoCommon PC-1 HIFD_KRT6A:c.1416G>C commonName c.1416G>C HIFD_KRT6A:c.1416G>C protEffect p.Glu472Asp HIFD_KRT6A:c.1416G>C phenoCommon PC-1 HIFD_KRT6A:c.1511_1512insG commonName c.1511_1512insG HIFD_KRT6A:c.1511_1512insG protEffect p.Ser505GlnfsX59 HIFD_KRT6A:c.1511_1512insG phenoCommon PC-1 HIFD_KRT6B:c.1414G>A commonName c.1414G>A HIFD_KRT6B:c.1414G>A protEffect p.Glu472Lys HIFD_KRT6B:c.1414G>A phenoCommon PC-2 HIFD_KRT6B:c.516_518delCAA commonName c.516_518delCAA HIFD_KRT6B:c.516_518delCAA protEffect p.Asn172del HIFD_KRT6B:c.516_518delCAA phenoCommon PC-2 HIFD_KRT6B:c.1381G>A commonName c.1381G>A HIFD_KRT6B:c.1381G>A protEffect p.Glu461Lys HIFD_KRT6B:c.1381G>A phenoCommon PC-2 HIFD_KRT6C:c.513_515delCAA commonName c.513_515delCAA HIFD_KRT6C:c.513_515delCAA protEffect p.Asn172del HIFD_KRT6C:c.513_515delCAA phenoCommon FNEPPK HIFD_KRT6C:c.1384_1410del27 commonName c.1384_1410delATCGCCACCTACCGCAAGCTGCTGGAG HIFD_KRT6C:c.1384_1410del27 protEffect p.Ile462_Glu470del HIFD_KRT6C:c.1384_1410del27 phenoCommon FNEPPK HIFD_KRT74:c.444C>G commonName c.444C>G HIFD_KRT74:c.444C>G protEffect p.Asn148Lys HIFD_KRT74:c.444C>G phenoCommon ADWH HIFD_KRT74:c.1444G>A commonName c.1444G>A HIFD_KRT74:c.1444G>A protEffect p.Asp482Asn HIFD_KRT74:c.1391-1G>A commonName c.1391-1G>A HIFD_KRT74:c.1391-1G>A protEffect p.? HIFD_KRT74:c.1391-1G>A phenoCommon ADWH HIFD_KRT8:c.160T>C commonName c.160T>C HIFD_KRT8:c.160T>C protEffect p.Tyr54His HIFD_KRT8:c.184G>T commonName c.184G>T HIFD_KRT8:c.184G>T protEffect p.Gly62Cys HIFD_KRT8:c.158G>T commonName c.158G>T HIFD_KRT8:c.158G>T protEffect p.Gly53Val HIFD_KRT8:c.184G>T phenoCommon IBD HIFD_KRT8:c.187A>G commonName c.187A>G HIFD_KRT8:c.187A>G protEffect p.Ile63Val HIFD_KRT8:c.187A>G phenoCommon IBD HIFD_KRT8:c.1392G>T commonName c.1392G>T HIFD_KRT8:c.1392G>T protEffect p.Lys464Asn HIFD_KRT8:c.1392G>T phenoCommon IBD HIFD_KRT8:c.1022G>A commonName c.1022G>A HIFD_KRT8:c.1022G>A protEffect p.Arg341His HIFD_KRT8:c.1300G>A commonName c.1300G>A HIFD_KRT8:c.1300G>A protEffect p.Gly434Ser HIFD_KRT8:c.1360C>T commonName c.1360C>T HIFD_KRT8:c.1360C>T protEffect p.Arg454Cys HIFD_KRT8:c.1399_1399insC commonName c.1399_1399insC HIFD_KRT8:c.1399_1399insC protEffect p.Glu467ArgfsX4 HIFD_KRT8:c.1128G>A commonName c.1128G>A HIFD_KRT8:c.1128G>A protEffect p.= HIFD_KRT8:c.1138G>A commonName c.1138G>A HIFD_KRT8:c.1138G>A protEffect p.Val380Ile HIFD_KRT8:c.77C>G commonName c.77C>G HIFD_KRT8:c.77C>G protEffect p.Thr26Arg HIFD_KRT8:c.164G>C commonName c.164G>C HIFD_KRT8:c.164G>C protEffect p.Gly55Ala HIFD_KRT8:c.1022G>A phenoCommon IBD HIFD_KRT8:c.1021C>T commonName c.1021C>T HIFD_KRT8:c.1021C>T protEffect p.Arg341Cys HIFD_KRT8:c.1021C>T phenoCommon IBD HIFD_KRT8:c.184G>T phenoCommon PBC HIFD_KRT8:c.1022G>A phenoCommon PBC HIFD_KRT8:c.1138G>A phenoCommon PBC HIFD_KRT8:c.1202+46A>T commonName c.1202+46A>T HIFD_KRT8:c.1202+46A>T protEffect p.= HIFD_KRT81:c.1204G>A commonName c.1204G>A HIFD_KRT81:c.1204G>A protEffect p.Glu402Lys HIFD_KRT81:c.1237G>A commonName c.1237G>A HIFD_KRT81:c.1237G>A protEffect p.Glu413Lys HIFD_KRT83:c.1219G>A commonName c.1219G>A HIFD_KRT83:c.1219G>A protEffect p.Glu407Lys HIFD_KRT85:c.233G>A commonName c.233G>A HIFD_KRT85:c.233G>A protEffect p.Arg78His HIFD_KRT86:c.1239G>T commonName c.1239G>T HIFD_KRT86:c.1239G>T protEffect p.Glu413Asp HIFD_KRT86:c.1237G>A commonName c.1237G>A HIFD_KRT86:c.1237G>A protEffect p.Glu413Lys HIFD_KRT86:c.1204G>A commonName c.1204G>A HIFD_KRT86:c.1204G>A protEffect p.Glu402Lys HIFD_KRT86:c.340A>G commonName c.340A>G HIFD_KRT86:c.340A>G protEffect p.Asn114Asp HIFD_KRT86:c.340A>C commonName c.340A>C HIFD_KRT86:c.340A>C protEffect p.Asn114His HIFD_KRT86:c.1204G>C commonName c.1204G>C HIFD_KRT86:c.1204G>C protEffect p.Glu402Gln HIFD_KRT86:c.353C>A commonName c.353C>A HIFD_KRT86:c.353C>A protEffect p.Ala118Glu HIFD_DES:c.1009G>C commonName c.1009G>C HIFD_DES:c.1009G>C protEffect p.Ala337Pro HIFD_DES:c.[1078G>C; 1178A>T] commonName c.[1078G>C; 1178A>T] HIFD_DES:c.[1078G>C; 1178A>T] protEffect p.[Ala360Pro; Asn393Ile] HIFD_DES:c.517_537del21 commonName c.517_537delCGCGCGCGCGTCGACGTCGAG HIFD_DES:c.517_537del21 protEffect p.Arg173_Glu179del HIFD_DES:c.1353C>G commonName c.1353C>G HIFD_DES:c.1353C>G protEffect p.Ile451Met HIFD_DES:c.1353C>G phenoCommon CMD1I HIFD_DES:c.1034T>C commonName c.1034T>C HIFD_DES:c.1034T>C protEffect p.Leu345Pro HIFD_DES:c.1024A>G commonName c.1024A>G HIFD_DES:c.1024A>G protEffect p.Asn342Asp HIFD_DES:c.1216C>T commonName c.1216C>T HIFD_DES:c.1216C>T protEffect p.Arg406Trp HIFD_DES:c.735+3A>G commonName c.735+3A>G HIFD_DES:c.735+3A>G protEffect p.Asp214_Glu245del HIFD_DES:c.1154T>C commonName c.1154T>C HIFD_DES:c.1154T>C protEffect p.Leu385Pro HIFD_DES:c.640-1G>A commonName c.640-1G>A HIFD_DES:c.640-1G>A protEffect p.Asp214_Glu245del HIFD_DES:c.1166A>C commonName c.1166A>C HIFD_DES:c.1166A>C protEffect p.Gln389Pro HIFD_DES:c.720_721insA commonName c.720_721insA HIFD_DES:c.720_721insA protEffect p.Lys241GlufsX4 HIFD_DES:c.1069G>C commonName c.1069G>C HIFD_DES:c.1069G>C protEffect p.Ala357Pro HIFD_DES:c.1109T>C commonName c.1109T>C HIFD_DES:c.1109T>C protEffect p.Leu370Pro HIFD_DES:c.1075_1083delGAGGCCAGT commonName c.1075_1083delGAGGCCAGT HIFD_DES:c.1075_1083delGAGGCCAGT protEffect p.Glu359_Ser361del HIFD_DES:c.1096_1098delAAC commonName c.1096_1098delAAC HIFD_DES:c.1096_1098delAAC protEffect p.Asn366del HIFD_DES:c.5G>T commonName c.5G>T HIFD_DES:c.5G>T protEffect p.Ser2Ile HIFD_DES:c.137C>T commonName c.137C>T HIFD_DES:c.137C>T protEffect p.Ser46Phe HIFD_DES:c.137C>A commonName c.137C>A HIFD_DES:c.137C>A protEffect p.Ser46Tyr HIFD_DES:c.1346A>C commonName c.1346A>C HIFD_DES:c.1346A>C protEffect p.Lys449Thr HIFD_DES:c.735G>C commonName c.735G>C HIFD_DES:c.735G>C protEffect p.Glu245Asp HIFD_DES:c.1049G>C commonName c.1049G>C HIFD_DES:c.1049G>C protEffect p.Arg350Pro HIFD_DES:c.1064G>C commonName c.1064G>C HIFD_DES:c.1064G>C protEffect p.Arg355Pro HIFD_DES:c.1405G>A commonName c.1405G>A HIFD_DES:c.1405G>A protEffect p.Val469Met HIFD_DES:c.1237G>A commonName c.1237G>A HIFD_DES:c.1237G>A protEffect p.Glu413Lys HIFD_DES:c.1237G>A phenoCommon RCM2 HIFD_DES:c.1126C>T commonName c.1126C>T HIFD_DES:c.1126C>T protEffect p.Arg406Trp HIFD_DES:c.46C>T commonName c.46C>T HIFD_DES:c.46C>T protEffect p.Arg16Cys HIFD_DES:c.1358C>T commonName c.1358C>T HIFD_DES:c.1358C>T protEffect p.Thr453Ile HIFD_DES:c.735+2_735+11delTATACCTTGG commonName c.735+2_735+11delTATACCTTGG HIFD_DES:c.735+2_735+11delTATACCTTGG protEffect p.? HIFD_DES:c.1325C>T commonName c.1325C>T HIFD_DES:c.1325C>T protEffect p.Thr442Ile HIFD_DES:c.1360C>T commonName c.1360C>T HIFD_DES:c.1360C>T protEffect p.Arg454Trp HIFD_DES:c.1379G>T commonName c.1379G>T HIFD_DES:c.1379G>T protEffect p.Ser460Ile HIFD_DES:c.638C>T commonName c.638C>T HIFD_DES:c.638C>T protEffect p.Ala213Val HIFD_DES:c.1013T>G commonName c.1013T>G HIFD_DES:c.1013T>G protEffect p.Leu338Arg HIFD_DES:c.1195G>T commonName c.1195G>T HIFD_DES:c.1195G>T protEffect p.Asp399Tyr HIFD_DES:c.1201G>A commonName c.1201G>A HIFD_DES:c.1201G>A protEffect p.Glu401Lys HIFD_DES:c.322G>A commonName c.322G>A HIFD_DES:c.322G>A protEffect p.Glu108Lys HIFD_DES:c.322G>A phenoCommon DCM-CD HIFD_DES:c.893C>T commonName c.893C>T HIFD_DES:c.893C>T protEffect p.Ser298Leu HIFD_DES:c.893C>T phenoCommon DCM-CD HIFD_DES:c.934G>A commonName c.934G>A HIFD_DES:c.934G>A protEffect p.Asp312Asn HIFD_DES:c.934G>A phenoCommon CMD1A HIFD_DES:c.1048C>T commonName c.1048C>T HIFD_DES:c.1048C>T protEffect p.Arg350Trp HIFD_DES:c.1048C>T phenoCommon CMD1A HIFD_DES:c.1375G>A commonName c.1375G>A HIFD_DES:c.1375G>A protEffect p.Val459Ile HIFD_DES:c.1375G>A phenoCommon CMD1A HIFD_DES:c.1255C>T commonName c.1255C>T HIFD_DES:c.1255C>T protEffect p.Pro419Ser HIFD_DES:c.1175T>C commonName c.1175T>C HIFD_DES:c.1175T>C protEffect p.Leu392Pro HIFD_DES:c.1099A>T commonName c.1099A>T HIFD_DES:c.1099A>T protEffect p.Ile367Phe HIFD_DES:c.38C>T commonName c.38C>T HIFD_DES:c.38C>T protEffect p.Ser13Phe HIFD_DES:c.640-2A>G commonName c.640-2A>G HIFD_DES:c.640-2A>G protEffect p.? HIFD_DES:c.640-2A>G phenoCommon CMD1A HIFD_DES:c.638C>T phenoCommon CMD1A HIFD_DES:c.640-2A>G phenoCommon RCM2 HIFD_DES:c.340_342delGAG commonName c.340_342delGAG HIFD_DES:c.340_342delGAG protEffect p.Glu114del HIFD_DES:c.821T>C commonName c.821T>C HIFD_DES:c.821T>C protEffect p.Leu274Pro HIFD_DES:c.35C>T commonName c.35C>T HIFD_DES:c.35C>T protEffect p.Ser12Phe HIFD_DES:c.1370A>T commonName c.1370A>T HIFD_DES:c.1370A>T protEffect p.Glu457Val HIFD_DES:c.821T>G commonName c.821T>G HIFD_DES:c.821T>G protEffect p.Leu274Arg HIFD_DES:c.338_339delAG commonName c.338_339delAG HIFD_DES:c.338_339delAG protEffect p.Gln113ArgfsX115 HIFD_DES:c.1333A>G commonName c.1333A>G HIFD_DES:c.1333A>G protEffect p.Thr445Ala HIFD_DES:c.347A>G commonName c.347A>G HIFD_DES:c.347A>G protEffect p.Asn116Ser HIFD_DES:c.347A>G phenoCommon ARVD7 HIFD_GFAP:c.235C>T commonName c.235C>T HIFD_GFAP:c.235C>T protEffect p.Arg79Cys HIFD_GFAP:c.715C>T commonName c.715C>T HIFD_GFAP:c.715C>T protEffect p.Arg239Cys HIFD_GFAP:c.716G>A commonName c.716G>A HIFD_GFAP:c.716G>A protEffect p.Arg239His HIFD_GFAP:c.773G>C commonName c.773G>C HIFD_GFAP:c.773G>C protEffect p.Arg258Pro HIFD_GFAP:c.1246C>T commonName c.1246C>T HIFD_GFAP:c.1246C>T protEffect p.Arg416Trp HIFD_GFAP:c.236G>A commonName c.236G>A HIFD_GFAP:c.236G>A protEffect p.Arg79His HIFD_GFAP:c.[140C>T; 715C>T] commonName c.[140C>T; 715C>T] HIFD_GFAP:c.[140C>T; 715C>T] protEffect p.[Pro47Leu; Arg239Cys] HIFD_GFAP:c.226C>T commonName c.226C>T HIFD_GFAP:c.226C>T protEffect p.Leu76Phe HIFD_GFAP:c.229A>T commonName c.229A>T HIFD_GFAP:c.229A>T protEffect p.Asn77Tyr HIFD_GFAP:c.262C>T commonName c.262C>T HIFD_GFAP:c.262C>T protEffect p.Arg88Cys HIFD_GFAP:c.262C>A commonName c.262C>A HIFD_GFAP:c.262C>A protEffect p.Arg88Ser HIFD_GFAP:c.731C>T commonName c.731C>T HIFD_GFAP:c.731C>T protEffect p.Ala244Val HIFD_GFAP:c.260T>G commonName c.260T>G HIFD_GFAP:c.260T>G protEffect p.Val87Gly HIFD_GFAP:c.218T>G commonName c.218T>G HIFD_GFAP:c.218T>G protEffect p.Met73Arg HIFD_GFAP:c.235C>G commonName c.235C>G HIFD_GFAP:c.235C>G protEffect p.Arg79Gly HIFD_GFAP:c.724T>G commonName c.724T>G HIFD_GFAP:c.724T>G protEffect p.Tyr242Asp HIFD_GFAP:c.1117G>A commonName c.1117G>A HIFD_GFAP:c.1117G>A protEffect p.Glu373Lys HIFD_GFAP:c.1086G>C commonName c.1086G>C HIFD_GFAP:c.1086G>C protEffect p.Glu362Asp HIFD_GFAP:c.290T>C commonName c.290T>C HIFD_GFAP:c.290T>C protEffect p.Leu97Pro HIFD_GFAP:c.716G>C commonName c.716G>C HIFD_GFAP:c.716G>C protEffect p.Arg239Pro HIFD_GFAP:c.827G>T commonName c.827G>T HIFD_GFAP:c.827G>T protEffect p.Arg276Leu HIFD_GFAP:c.236G>T commonName c.236G>T HIFD_GFAP:c.236G>T protEffect p.Arg79Leu HIFD_GFAP:c.667G>C commonName c.667G>C HIFD_GFAP:c.667G>C protEffect p.Glu223Gln HIFD_GFAP:c.248C>A commonName c.248C>A HIFD_GFAP:c.248C>A protEffect p.Asp78Glu HIFD_GFAP:c.1055T>C commonName c.1055T>C HIFD_GFAP:c.1055T>C protEffect p.Leu352Pro HIFD_GFAP:c.269T>C commonName c.269T>C HIFD_GFAP:c.269T>C protEffect p.Leu90Pro HIFD_GFAP:c.992T>C commonName c.992T>C HIFD_GFAP:c.992T>C protEffect p.Leu331Pro HIFD_GFAP:c.187A>C commonName c.187A>C HIFD_GFAP:c.187A>C protEffect p.Lys63Gln HIFD_GFAP:c.226C>G commonName c.226C>G HIFD_GFAP:c.226C>G protEffect p.Leu76Val HIFD_GFAP:c.230A>G commonName c.230A>G HIFD_GFAP:c.230A>G protEffect p.Asn77Ser HIFD_GFAP:c.619G>A commonName c.619G>A HIFD_GFAP:c.619G>A protEffect p.Glu207Lys HIFD_GFAP:c.619G>C commonName c.619G>C HIFD_GFAP:c.619G>C protEffect p.Glu207Gln HIFD_GFAP:c.628G>A commonName c.628G>A HIFD_GFAP:c.628G>A protEffect p.Glu210Lys HIFD_GFAP:c.704T>C commonName c.704T>C HIFD_GFAP:c.704T>C protEffect p.Leu235Pro HIFD_GFAP:c.758C>G commonName c.758C>G HIFD_GFAP:c.758C>G protEffect p.Ala253Gly HIFD_GFAP:c.835A>G commonName c.835A>G HIFD_GFAP:c.835A>G protEffect p.Lys279Glu HIFD_GFAP:c.1075C>G commonName c.1075C>G HIFD_GFAP:c.1075C>G protEffect p.Leu359Val HIFD_GFAP:c.1090G>C commonName c.1090G>C HIFD_GFAP:c.1090G>C protEffect p.Ala364Pro HIFD_GFAP:c.1096T>C commonName c.1096T>C HIFD_GFAP:c.1096T>C protEffect p.Tyr366His HIFD_GFAP:c.1117G>C commonName c.1117G>C HIFD_GFAP:c.1117G>C protEffect p.Glu373Gln HIFD_GFAP:c.1121A>G commonName c.1121A>G HIFD_GFAP:c.1121A>G protEffect p.Glu374Gly HIFD_GFAP:c.343G>T commonName c.343G>T HIFD_GFAP:c.343G>T protEffect p.Val115Phe HIFD_GFAP:c.343G>A commonName c.343G>A HIFD_GFAP:c.343G>A protEffect p.Val115Ile HIFD_GFAP:c.1112A>G commonName c.1112A>G HIFD_GFAP:c.1112A>G protEffect p.Glu371Gly HIFD_GFAP:c.208C>T commonName c.208C>T HIFD_GFAP:c.208C>T protEffect p.Arg70Trp HIFD_GFAP:c.256_259delAAGGinsGAGT commonName c.256_259delAAGGinsGAGT HIFD_GFAP:c.256_259delAAGGinsGAGT protEffect p.Lys86_Val87delinsGluPhe HIFD_GFAP:c.1157A>T commonName c.1157A>T HIFD_GFAP:c.1157A>T protEffect p.Asn386Ile HIFD_GFAP:c.716G>T commonName c.716G>T HIFD_GFAP:c.716G>T protEffect p.Arg239Leu HIFD_GFAP:c.1178G>T commonName c.1178G>T HIFD_GFAP:c.1178G>T protEffect p.Ser393Ile HIFD_GFAP:c.[799G>C]+[*28C>G] commonName c.[799G>C]+[*28C>G] HIFD_GFAP:c.[799G>C]+[*28C>G] protEffect p.[Ala267Pro]+[=] HIFD_GFAP:c.1079A>T commonName c.1079A>T HIFD_GFAP:c.1079A>T protEffect p.Asp360Val HIFD_GFAP:c.1097A>G commonName c.1097A>G HIFD_GFAP:c.1097A>G protEffect p.Tyr366Cys HIFD_GFAP:c.1091C>T commonName c.1091C>T HIFD_GFAP:c.1091C>T protEffect p.Ala364Val HIFD_GFAP:c.221T>C commonName c.221T>C HIFD_GFAP:c.221T>C protEffect p.Met74Thr HIFD_GFAP:c.770A>G commonName c.770A>G HIFD_GFAP:c.770A>G protEffect p.Tyr257Cys HIFD_GFAP:c.1247_1249delGGGinsGG commonName c.1247_1249delGGGinsGG HIFD_GFAP:c.1247_1249delGGGinsGG protEffect p.Asp417MetfsX15 HIFD_GFAP:c.247T>C commonName c.247T>C HIFD_GFAP:c.247T>C protEffect p.Tyr83His HIFD_GFAP:c.613G>A commonName c.613G>A HIFD_GFAP:c.613G>A protEffect p.Glu205Lys HIFD_GFAP:c.1193C>A commonName c.1193C>A HIFD_GFAP:c.1193C>A protEffect p.Ser398Tyr HIFD_GFAP:c.382G>A commonName c.382G>A HIFD_GFAP:c.382G>A protEffect p.Asp128Asn HIFD_GFAP:c.209G>A commonName c.209G>A HIFD_GFAP:c.209G>A protEffect p.Arg70Gln HIFD_GFAP:c.218T>A commonName c.218T>A HIFD_GFAP:c.218T>A protEffect p.Met73Lys HIFD_GFAP:c.236G>C commonName c.236G>C HIFD_GFAP:c.236G>C protEffect p.Arg79Pro HIFD_GFAP:c.1076T>C commonName c.1076T>C HIFD_GFAP:c.1076T>C protEffect p.Leu359Pro HIFD_GFAP:c.469G>A commonName c.469G>A HIFD_GFAP:c.469G>A protEffect p.Asp157Asn HIFD_GFAP:c.1126C>T commonName c.1126C>T HIFD_GFAP:c.1126C>T protEffect p.Arg376Trp HIFD_GFAP:c.141G>A commonName c.141G>A HIFD_GFAP:c.141G>A protEffect p.= HIFD_GFAP:c.759C>T commonName c.759C>T HIFD_GFAP:c.759C>T protEffect p.= HIFD_GFAP:c.988C>G commonName c.988C>G HIFD_GFAP:c.988C>G protEffect p.Arg330Gly HIFD_GFAP:c.994G>A commonName c.994G>A HIFD_GFAP:c.994G>A protEffect p.Glu332Lys HIFD_GFAP:c.[236G>A; =]+[=; 667G>C] commonName c.[236G>A; =]+[=; 667G>C] HIFD_GFAP:c.[236G>A; =]+[=; 667G>C] protEffect p.[Arg79His; =]+[=; Glu223Gln] HIFD_GFAP:c.1070C>T commonName c.1070C>T HIFD_GFAP:c.1070C>T protEffect p.Pro357Leu HIFD_GFAP:c.302T>C commonName c.302T>C HIFD_GFAP:c.302T>C protEffect p.Leu101Pro HIFD_GFAP:c.1148C>T commonName c.1148C>T HIFD_GFAP:c.1148C>T protEffect p.Thr383Ile HIFD_GFAP:c.716G>T phenoCommon APL HIFD_GFAP:c.259G>C commonName c.259G>C HIFD_GFAP:c.259G>C protEffect p.Val87Leu HIFD_GFAP:c.739T>C commonName c.739T>C HIFD_GFAP:c.739T>C protEffect p.Ser247Pro HIFD_GFAP:c.1250A>C commonName c.1250A>C HIFD_GFAP:c.1250A>C protEffect p.Asp417Ala HIFD_GFAP:c.1277A>T commonName c.1277A>T HIFD_GFAP:c.1277A>T protEffect p.Gln426Leu HIFD_GFAP:c.211G>A commonName c.211G>A HIFD_GFAP:c.211G>A protEffect p.Arg66Gln HIFD_GFAP:c.214G>A commonName c.214G>A HIFD_GFAP:c.214G>A protEffect p.Glu72Lys HIFD_GFAP:c.235C>A commonName c.235C>A HIFD_GFAP:c.235C>A protEffect p.Arg79Ser HIFD_GFAP:c.257A>G commonName c.257A>G HIFD_GFAP:c.257A>G protEffect p.Lys86Glu HIFD_GFAP:c.707A>C commonName c.707A>C HIFD_GFAP:c.707A>C protEffect p.Lys236Thr HIFD_GFAP:c.1111G>C commonName c.1111G>C HIFD_GFAP:c.1111G>C protEffect p.Glu371Gln HIFD_GFAP:c.1112A>T commonName c.1112A>T HIFD_GFAP:c.1112A>T protEffect p.Glu371Val HIFD_GFAP:c.1126C>G commonName c.1126C>G HIFD_GFAP:c.1126C>G protEffect p.Arg376Gly HIFD_GFAP:c.1140C>T commonName c.1140C>T HIFD_GFAP:c.1140C>T protEffect p.Arg376Trp HIFD_PRPH:c.229delC commonName c.229delC HIFD_PRPH:c.229delC protEffect p.Arg77AlafsX53 HIFD_PRPH:c.229delC phenoCommon ALS1 HIFD_PRPH:c.398G>C commonName c.398G>C HIFD_PRPH:c.398G>C protEffect p.Arg133Pro HIFD_PRPH:c.398G>C phenoCommon ALS1 HIFD_PRPH:c.421G>T commonName c.421G>T HIFD_PRPH:c.421G>T protEffect p.Asp141Tyr HIFD_PRPH:c.421G>T phenoCommon ALS1 HIFD_PRPH:c.703-13C>T commonName c.703-13C>T HIFD_PRPH:c.703-13C>T protEffect p.= HIFD_PRPH:c.703-13C>T phenoCommon ALS1 HIFD_PRPH:c.547T>C commonName c.547T>C HIFD_PRPH:c.547T>C protEffect p.= HIFD_PRPH:c.547T>C phenoCommon ALS1 HIFD_PRPH:c.870+12G>A commonName c.870+12G>A HIFD_PRPH:c.870+12G>A protEffect p.= HIFD_PRPH:c.870+12G>A phenoCommon ALS1 HIFD_PRPH:c.1217+34G>A commonName c.1217+34G>A HIFD_PRPH:c.1217+34G>A protEffect p.= HIFD_PRPH:c.1217+34G>A phenoCommon ALS1 HIFD_PRPH:c.-24G>C commonName c.-24G>C HIFD_PRPH:c.-24G>C protEffect p.= HIFD_PRPH:c.-24G>C phenoCommon ALS1 HIFD_VIM:c.451G>A commonName c.451G>A HIFD_VIM:c.451G>A protEffect p.Glu151Lys HIFD_VIM:c.451G>A phenoCommon ADC HIFD_NEF3:c.1006G>A commonName c.1006G>A HIFD_NEF3:c.1006G>A protEffect p.Gly336Ser HIFD_NEF3:c.1006G>A phenoCommon PD HIFD_NEF3:c.104T>A commonName c.104T>A HIFD_NEF3:c.104T>A protEffect p.Phe35Tyr HIFD_NEF3:c.104T>A phenoCommon ALS1 HIFD_NEF3:c.837C>A commonName c.837C>A HIFD_NEF3:c.837C>A protEffect p.Ser279Arg HIFD_NEF3:c.837C>A phenoCommon ALS1 HIFD_NEF3:c.1423G>A commonName c.1423G>A HIFD_NEF3:c.1423G>A protEffect p.Ala475Thr HIFD_NEF3:c.1423G>A phenoCommon ALS1 HIFD_NEF3:c.2089G>C commonName c.2089G>C HIFD_NEF3:c.2089G>C protEffect p.Gly697Arg HIFD_NEF3:c.2089G>C phenoCommon ALS1 HIFD_NEF3:c.2263G>T commonName c.2263G>T HIFD_NEF3:c.2263G>T protEffect p.Val755Leu HIFD_NEF3:c.2263G>T phenoCommon ALS1 HIFD_NEF3:c.2572G>A commonName c.2572G>A HIFD_NEF3:c.2572G>A protEffect p.Val858Ile HIFD_NEF3:c.2572G>A phenoCommon ALS1 HIFD_NEF3:c.2153T>C commonName c.2153T>C HIFD_NEF3:c.2153T>C protEffect p.Val718Ala HIFD_NEF3:c.2153T>C phenoCommon ALS1 HIFD_NEFH:c.2368_2370delAAG commonName c.2368_2370delAAG HIFD_NEFH:c.2368_2370delAAG protEffect p.Lys790del HIFD_NEFH:c.2368_2370delAAG phenoCommon ALS1 HIFD_NEFH:c.1582_1683del102 commonName c.1582_1683delGCTGAGGCCAAGTCCCCAGAGAAGGAGGAAGCAAAATCCCCAGCCGAAGTCAAGTCCCCTGAGAAGGCCAAGTCTCCAGCAAAGGAAGAGGCAAAGTCACCG HIFD_NEFH:c.1582_1683del102 protEffect p.Ala528_Pro561del HIFD_NEFH:c.1582_1683del102 phenoCommon ALS1 HIFD_NEFH:c.2124_2125ins84 commonName c.2124_2125insAAGTCCCCAGTGAAGGAAGAAGCAAAGTCCCCTGAGAAGGCCAAGTCCCCAGTGAAGGAAGAAGCAAAGTCCCCTGAGAAGGCC HIFD_NEFH:c.2124_2125ins84 protEffect p.Ala708_Lys709ins28 HIFD_NEFH:c.2124_2125ins84 phenoCommon ALS1 HIFD_NEFH:c.1965_1988del24 commonName c.1965_1988delAGAGAAGGAAGAGGCCAAGTCCCC HIFD_NEFH:c.1965_1988del24 protEffect p.Glu656_Pro663del HIFD_NEFH:c.1965_1988del24 phenoCommon ALS1 HIFD_NEFH:c.1989_2006del18 commonName c.1989_2006delTGAGAAGGCCAAGTCCCC HIFD_NEFH:c.1989_2006del18 protEffect p.Glu664_Pro669del HIFD_NEFH:c.1989_2006del18 phenoCommon ALS1 HIFD_NEFH:c.1989_2030del42 commonName c.1989_2030delTGAGAAGGCCAAGTCCCCAGTGAAGGCAGAAGCAAAGTCCCC HIFD_NEFH:c.1989_2030del42 protEffect p.Glu664_Pro677del HIFD_NEFH:c.1989_2030del42 phenoCommon ALS1 HIFD_NEFH:c.2230_2247del18 commonName c.2230_2247delGCCAAGTCCCCAGAGAAG HIFD_NEFH:c.2230_2247del18 protEffect p.Ala744_Lys749del HIFD_NEFH:c.2230_2247del18 phenoCommon ALS1 HIFD_NEFH:c.1554A>C commonName c.1554A>C HIFD_NEFH:c.1554A>C protEffect p.= HIFD_NEFH:c.1554A>C phenoCommon NIFID HIFD_NEFH:c.1629A>G commonName c.1629A>G HIFD_NEFH:c.1629A>G protEffect p.= HIFD_NEFH:c.1629A>G phenoCommon NIFID HIFD_NEFH:c.1836A>C commonName c.1836A>C HIFD_NEFH:c.1836A>C protEffect p.= HIFD_NEFH:c.1836A>C phenoCommon NIFID HIFD_NEFH:c.1878A>C commonName c.1878A>C HIFD_NEFH:c.1878A>C protEffect p.= HIFD_NEFH:c.1878A>C phenoCommon NIFID HIFD_NEFH:c.269C>T commonName c.269C>T HIFD_NEFH:c.269C>T protEffect p.Ala90Val HIFD_NEFH:c.269C>T phenoCommon ALS1 HIFD_NEFH:c.745G>A commonName c.745G>A HIFD_NEFH:c.745G>A protEffect p.Gly249Ser HIFD_NEFH:c.745G>A phenoCommon ALS1 HIFD_NEFH:c.1054C>A commonName c.1054C>A HIFD_NEFH:c.1054C>A protEffect p.Arg352Ser HIFD_NEFH:c.1054C>A phenoCommon ALS1 HIFD_NEFH:c.1138G>A commonName c.1138G>A HIFD_NEFH:c.1138G>A protEffect p.Ala380Thr HIFD_NEFH:c.1138G>A phenoCommon ALS1 HIFD_NEFL:c.1402G>A commonName c.1402G>A HIFD_NEFL:c.1402G>A protEffect p.Asp468Asn HIFD_NEFL:c.1402G>A phenoCommon ALS1 HIFD_NEFL:c.995A>C commonName c.995A>C HIFD_NEFL:c.995A>C protEffect p.Gln332Pro HIFD_NEFL:c.995A>C phenoCommon CMT2 HIFD_NEFL:c.22_23delCCinsAG commonName c.22_23delCCinsAG HIFD_NEFL:c.22_23delCCinsAG protEffect p.Pro8Arg HIFD_NEFL:c.22_23delCCinsAG phenoCommon CMT2E HIFD_NEFL:c.64C>A commonName c.64C>A HIFD_NEFL:c.64C>A protEffect p.Pro22Thr HIFD_NEFL:c.64C>A phenoCommon CMT1 HIFD_NEFL:c.293A>G commonName c.293A>G HIFD_NEFL:c.293A>G protEffect p.Asn98Ser HIFD_NEFL:c.293A>G phenoCommon CMT1 HIFD_NEFL:c.446C>T commonName c.446C>T HIFD_NEFL:c.446C>T protEffect p.Ala149Val HIFD_NEFL:c.446C>T phenoCommon CMT1 HIFD_NEFL:c.64C>T commonName c.64C>T HIFD_NEFL:c.64C>T protEffect p.Pro22Ser HIFD_NEFL:c.64C>T phenoCommon CMT2 HIFD_NEFL:c.23C>G commonName c.23C>G HIFD_NEFL:c.23C>G protEffect p.Pro8Arg HIFD_NEFL:c.23C>G phenoCommon CMT1 HIFD_NEFL:c.23C>T commonName c.23C>T HIFD_NEFL:c.23C>T protEffect p.Pro8Leu HIFD_NEFL:c.23C>T phenoCommon CMT1 HIFD_NEFL:c.23C>A commonName c.23C>A HIFD_NEFL:c.23C>A protEffect p.Pro8Gln HIFD_NEFL:c.23C>A phenoCommon CMT1 HIFD_NEFL:c.1579_1581delGAG commonName c.1579_1581delGAG HIFD_NEFL:c.1579_1581delGAG protEffect p.Glu527del HIFD_NEFL:c.1579_1581delGAG phenoCommon CMT1 HIFD_NEFL:c.19G>A commonName c.19G>A HIFD_NEFL:c.19G>A protEffect p.Glu7Lys HIFD_NEFL:c.19G>A phenoCommon CMT1 HIFD_NEFL:c.268G>A commonName c.268G>A HIFD_NEFL:c.268G>A protEffect p.Glu90Lys HIFD_NEFL:c.268G>A phenoCommon CMT1 HIFD_NEFL:c.1189G>A commonName c.1189G>A HIFD_NEFL:c.1189G>A protEffect p.Glu397Lys HIFD_NEFL:c.1189G>A phenoCommon CMT2E HIFD_NEFL:c.64C>T phenoCommon CMT2E HIFD_NEFL:c.1189G>A phenoCommon CMT1F HIFD_NEFL:c.998T>C commonName c.998T>C HIFD_NEFL:c.998T>C protEffect p.Leu333Pro HIFD_NEFL:c.998T>C phenoCommon CMT2E HIFD_NEFL:c.1575_1576insG commonName c.1575_1576insG HIFD_NEFL:c.1575_1576insG protEffect p.Glu526Gly HIFD_NEFL:c.1575_1576insG phenoCommon CMT2E HIFD_NEFL:c.1579_1581delGAG phenoCommon ALS1 HIFD_NEFL:c.48_60dup13 commonName c.48_60dupGCGCTACGTGGAG HIFD_NEFL:c.48_60dup13 protEffect p.Thr21AlafsX83 HIFD_NEFL:c.48_60dup13 phenoCommon CMT2 HIFD_NEFL:c.639C>G commonName c.639C>G HIFD_NEFL:c.639C>G protEffect p.Ile213Met HIFD_NEFL:c.639C>G phenoCommon CMT2E HIFD_NEFL:c.803T>C commonName c.803T>C HIFD_NEFL:c.803T>C protEffect p.Leu268Pro HIFD_NEFL:c.803T>C phenoCommon CMT2E HIFD_NEFL:c.1186G>A commonName c.1186G>A HIFD_NEFL:c.1186G>A protEffect p.Glu396Lys HIFD_NEFL:c.1186G>A phenoCommon CMT2E HIFD_NEFL:c.963_977del15 commonName c.963_977delATGCCGGGGCATGAA HIFD_NEFL:c.963_977del15 protEffect p.Cys322_Asn326del HIFD_NEFL:c.963_977del15 phenoCommon CMT2E HIFD_NEFL:c.281T>C commonName c.281T>C HIFD_NEFL:c.281T>C protEffect p.Leu94Pro HIFD_NEFL:c.281T>C phenoCommon CMT2 HIFD_NEFL:c.23C>G phenoCommon CMT2 HIFD_NEFL:c.64C>T phenoCommon CMT1 HIFD_NEFL:c.418G>T commonName c.418G>T HIFD_NEFL:c.418G>T protEffect p.Glu140X HIFD_NEFL:c.418G>T phenoCommon CMT1 HIFD_NEFL:c.65C>G commonName c.65C>G HIFD_NEFL:c.65C>G protEffect p.Pro22Arg HIFD_NEFL:c.65C>G phenoCommon CMT1 HIFD_NEFL:c.1186G>A phenoCommon CMT1 HIFD_LMNA:c.16C>T commonName c.16C>T HIFD_LMNA:c.16C>T protEffect p.Gln6X HIFD_LMNA:c.16C>T phenoCommon EDMD2 HIFD_LMNA:c.1357C>T commonName c.1357C>T HIFD_LMNA:c.1357C>T protEffect p.Arg453Trp HIFD_LMNA:c.1357C>T phenoCommon EDMD2 HIFD_LMNA:c.1580G>C commonName c.1580G>C HIFD_LMNA:c.1580G>C protEffect p.Arg527Pro HIFD_LMNA:c.1580G>C phenoCommon EDMD2 HIFD_LMNA:c.1589T>C commonName c.1589T>C HIFD_LMNA:c.1589T>C protEffect p.Leu530Pro HIFD_LMNA:c.1589T>C phenoCommon EDMD2 HIFD_LMNA:c.178C>G commonName c.178C>G HIFD_LMNA:c.178C>G protEffect p.Arg60Gly HIFD_LMNA:c.178C>G phenoCommon CMD1A HIFD_LMNA:c.254T>G commonName c.254T>G HIFD_LMNA:c.254T>G protEffect p.Leu85Arg HIFD_LMNA:c.254T>G phenoCommon CMD1A HIFD_LMNA:c.585C>G commonName c.585C>G HIFD_LMNA:c.585C>G protEffect p.Asn195Lys HIFD_LMNA:c.585C>G phenoCommon CMD1A HIFD_LMNA:c.608A>G commonName c.608A>G HIFD_LMNA:c.608A>G protEffect p.Glu203Gly HIFD_LMNA:c.608A>G phenoCommon CMD1A HIFD_LMNA:c.1445G>A commonName c.1445G>A HIFD_LMNA:c.1445G>A protEffect p.Arg482Gln HIFD_LMNA:c.1445G>A phenoCommon FPLD2 HIFD_LMNA:c.1444C>T commonName c.1444C>T HIFD_LMNA:c.1444C>T protEffect p.Arg482Trp HIFD_LMNA:c.1444C>T phenoCommon FPLD2 HIFD_LMNA:c.1445G>T commonName c.1445G>T HIFD_LMNA:c.1445G>T protEffect p.Arg482Leu HIFD_LMNA:c.1445G>T phenoCommon FPLD2 HIFD_LMNA:c.1458G>C commonName c.1458G>C HIFD_LMNA:c.1458G>C protEffect p.Lys486Asn HIFD_LMNA:c.1458G>C phenoCommon FPLD2 HIFD_LMNA:c.1458G>T commonName c.1458G>T HIFD_LMNA:c.1458G>T protEffect p.Lys486Asn HIFD_LMNA:c.1458G>T phenoCommon FPLD2 HIFD_LMNA:c.959delT commonName c.959delT HIFD_LMNA:c.959delT protEffect p.Leu320fsX160 HIFD_LMNA:c.959delT phenoCommon CMD1A HIFD_LMNA:c.1745G>A commonName c.1745G>A HIFD_LMNA:c.1745G>A protEffect p.Arg582His HIFD_LMNA:c.1745G>A phenoCommon FPLD2 HIFD_LMNA:c.1394G>A commonName c.1394G>A HIFD_LMNA:c.1394G>A protEffect p.Gly465Asp HIFD_LMNA:c.1394G>A phenoCommon FPLD2 HIFD_LMNA:c.746G>A commonName c.746G>A HIFD_LMNA:c.746G>A protEffect p.Arg249Gln HIFD_LMNA:c.746G>A phenoCommon EDMD2 HIFD_LMNA:c.1007G>A commonName c.1007G>A HIFD_LMNA:c.1007G>A protEffect p.Arg336Gln HIFD_LMNA:c.1007G>A phenoCommon EDMD2 HIFD_LMNA:c.1406T>C commonName c.1406T>C HIFD_LMNA:c.1406T>C protEffect p.Ile469Thr HIFD_LMNA:c.1406T>C phenoCommon EDMD2 HIFD_LMNA:c.1583C>A commonName c.1583C>A HIFD_LMNA:c.1583C>A protEffect p.Thr528Lys HIFD_LMNA:c.1583C>A phenoCommon EDMD2 HIFD_LMNA:c.664C>T commonName c.664C>T HIFD_LMNA:c.664C>T protEffect p.His222Tyr HIFD_LMNA:c.664C>T phenoCommon EDMD3 HIFD_LMNA:c.1130G>A commonName c.1130G>A HIFD_LMNA:c.1130G>A protEffect p.Arg377His HIFD_LMNA:c.1130G>A phenoCommon LGMD1B HIFD_LMNA:c.1608+5G>C commonName c.1608+5G>C HIFD_LMNA:c.1608+5G>C protEffect p.Glu537ValfsX36 HIFD_LMNA:c.1608+5G>C phenoCommon LGMD1B HIFD_LMNA:c.622_624delAAG commonName c.622_624delAAG HIFD_LMNA:c.622_624delAAG protEffect p.Lys208del HIFD_LMNA:c.622_624delAAG phenoCommon LGMD1B HIFD_LMNA:c.448A>C commonName c.448A>C HIFD_LMNA:c.448A>C protEffect p.Thr150Pro HIFD_LMNA:c.448A>C phenoCommon EDMD2 HIFD_LMNA:c.781_783delAAG commonName c.781_783delAAG HIFD_LMNA:c.781_783delAAG protEffect p.Lys261del HIFD_LMNA:c.781_783delAAG phenoCommon EDMD2 HIFD_LMNA:c.134A>G commonName c.134A>G HIFD_LMNA:c.134A>G protEffect p.Tyr45Cys HIFD_LMNA:c.134A>G phenoCommon EDMD2 HIFD_LMNA:c.149G>C commonName c.149G>C HIFD_LMNA:c.149G>C protEffect p.Arg50Pro HIFD_LMNA:c.149G>C phenoCommon EDMD2 HIFD_LMNA:c.188T>G commonName c.188T>G HIFD_LMNA:c.188T>G protEffect p.Ile63Ser HIFD_LMNA:c.188T>G phenoCommon EDMD2 HIFD_LMNA:c.665A>C commonName c.665A>C HIFD_LMNA:c.665A>C protEffect p.His222Pro HIFD_LMNA:c.665A>C phenoCommon EDMD2 HIFD_LMNA:c.695G>A commonName c.695G>A HIFD_LMNA:c.695G>A protEffect p.Gly232Glu HIFD_LMNA:c.695G>A phenoCommon EDMD2 HIFD_LMNA:c.881A>C commonName c.881A>C HIFD_LMNA:c.881A>C protEffect p.Gln294Pro HIFD_LMNA:c.881A>C phenoCommon EDMD2 HIFD_LMNA:c.1072G>A commonName c.1072G>A HIFD_LMNA:c.1072G>A protEffect p.Glu358Lys HIFD_LMNA:c.1072G>A phenoCommon EDMD2 HIFD_LMNA:c.1112T>A commonName c.1112T>A HIFD_LMNA:c.1112T>A protEffect p.Met371Lys HIFD_LMNA:c.1112T>A phenoCommon EDMD2 HIFD_LMNA:c.1368C>A commonName c.1368C>A HIFD_LMNA:c.1368C>A protEffect p.Asn456Lys HIFD_LMNA:c.1368C>A phenoCommon EDMD2 HIFD_LMNA:c.1559G>C commonName c.1559G>C HIFD_LMNA:c.1559G>C protEffect p.Trp520Ser HIFD_LMNA:c.1559G>C phenoCommon EDMD2 HIFD_LMNA:c.334_336delGAG commonName c.334_336delGAG HIFD_LMNA:c.334_336delGAG protEffect p.Glu112del HIFD_LMNA:c.334_336delGAG phenoCommon EDMD2 HIFD_LMNA:c.1397_1397delA commonName c.1397_1397delA HIFD_LMNA:c.1397_1397delA protEffect p.Asn466IlefsX14 HIFD_LMNA:c.1397_1397delA phenoCommon CMD1A HIFD_LMNA:c.1751G>A commonName c.1751G>A HIFD_LMNA:c.1751G>A protEffect p.Arg584His HIFD_LMNA:c.1751G>A phenoCommon FPLD2 HIFD_LMNA:c.16C>T phenoCommon CMD1A HIFD_LMNA:c.1930C>T commonName c.1930C>T HIFD_LMNA:c.1930C>T protEffect p.Arg644Cys HIFD_LMNA:c.1930C>T phenoCommon CMD1A HIFD_LMNA:c.74G>C commonName c.74G>C HIFD_LMNA:c.74G>C protEffect p.Arg25Pro HIFD_LMNA:c.74G>C phenoCommon EDMD2 HIFD_LMNA:c.127G>A commonName c.127G>A HIFD_LMNA:c.127G>A protEffect p.Ala43Thr HIFD_LMNA:c.127G>A phenoCommon EDMD2 HIFD_LMNA:c.148C>A commonName c.148C>A HIFD_LMNA:c.148C>A protEffect p.Arg50Ser HIFD_LMNA:c.148C>A phenoCommon EDMD2 HIFD_LMNA:c.398G>C commonName c.398G>C HIFD_LMNA:c.398G>C protEffect p.Arg133Pro HIFD_LMNA:c.398G>C phenoCommon EDMD2 HIFD_LMNA:c.588_596delGCTGCAGAC commonName c.588_596delGCTGCAGAC HIFD_LMNA:c.588_596delGCTGCAGAC protEffect p.Arg196_Thr199delinsSer HIFD_LMNA:c.588_596delGCTGCAGAC phenoCommon EDMD2 HIFD_LMNA:c.1871G>A commonName c.1871G>A HIFD_LMNA:c.1871G>A protEffect p.Arg624His HIFD_LMNA:c.1871G>A phenoCommon EDMD2 HIFD_LMNA:c.1367A>T commonName c.1367A>T HIFD_LMNA:c.1367A>T protEffect p.Asn456Ile HIFD_LMNA:c.1367A>T phenoCommon EDMD2 HIFD_LMNA:c.1441T>C commonName c.1441T>C HIFD_LMNA:c.1441T>C protEffect p.Tyr481His HIFD_LMNA:c.1441T>C phenoCommon LGMD1B HIFD_LMNA:c.892C>T commonName c.892C>T HIFD_LMNA:c.892C>T protEffect p.Arg298Cys HIFD_LMNA:c.892C>T phenoCommon CMT2B1 HIFD_LMNA:c.331G>T commonName c.331G>T HIFD_LMNA:c.331G>T protEffect p.Glu111X HIFD_LMNA:c.331G>T phenoCommon CMD1A HIFD_LMNA:c.289A>G commonName c.289A>G HIFD_LMNA:c.289A>G protEffect p.Lys97Glu HIFD_LMNA:c.289A>G phenoCommon CMD1A HIFD_LMNA:c.568C>T commonName c.568C>T HIFD_LMNA:c.568C>T protEffect p.Arg190Trp HIFD_LMNA:c.568C>T phenoCommon CMD1A HIFD_LMNA:c.949G>A commonName c.949G>A HIFD_LMNA:c.949G>A protEffect p.Glu317Lys HIFD_LMNA:c.949G>A phenoCommon CMD1A HIFD_LMNA:c.82C>T commonName c.82C>T HIFD_LMNA:c.82C>T protEffect p.Arg28Trp HIFD_LMNA:c.82C>T phenoCommon FPLD2 HIFD_LMNA:c.184C>G commonName c.184C>G HIFD_LMNA:c.184C>G protEffect p.Arg62Gly HIFD_LMNA:c.184C>G phenoCommon FPLD2 HIFD_LMNA:c.1130G>T commonName c.1130G>T HIFD_LMNA:c.1130G>T protEffect p.Arg377Leu HIFD_LMNA:c.1130G>T phenoCommon LGMD1B HIFD_LMNA:c.1580G>A commonName c.1580G>A HIFD_LMNA:c.1580G>A protEffect p.Arg527His HIFD_LMNA:c.1580G>A phenoCommon MADA HIFD_LMNA:c.178C>G phenoCommon FPLD2 HIFD_LMNA:c.1201C>T commonName c.1201C>T HIFD_LMNA:c.1201C>T protEffect p.Arg401Cys HIFD_LMNA:c.1201C>T phenoCommon EDMD2 HIFD_LMNA:c.907T>C commonName c.907T>C HIFD_LMNA:c.907T>C protEffect p.Ser303Pro HIFD_LMNA:c.907T>C phenoCommon EDMD2 HIFD_LMNA:c.188T>A commonName c.188T>A HIFD_LMNA:c.188T>A protEffect p.Ile63Asn HIFD_LMNA:c.188T>A phenoCommon EDMD2 HIFD_LMNA:c.94_96delAAG commonName c.94_96delAAG HIFD_LMNA:c.94_96delAAG protEffect p.Lys32del HIFD_LMNA:c.94_96delAAG phenoCommon EDMD2 HIFD_LMNA:c.644T>C commonName c.644T>C HIFD_LMNA:c.644T>C protEffect p.Leu215Pro HIFD_LMNA:c.644T>C phenoCommon CMD1A HIFD_LMNA:c.266G>T commonName c.266G>T HIFD_LMNA:c.266G>T protEffect p.Arg89Leu HIFD_LMNA:c.266G>T phenoCommon CMD1A HIFD_LMNA:c.1130G>A phenoCommon CMD1A HIFD_LMNA:c.1718C>T commonName c.1718C>T HIFD_LMNA:c.1718C>T protEffect p.Ser573Leu HIFD_LMNA:c.1718C>T phenoCommon CMD1A HIFD_LMNA:c.398G>T commonName c.398G>T HIFD_LMNA:c.398G>T protEffect p.Arg133Leu HIFD_LMNA:c.1824C>T commonName c.1824C>T HIFD_LMNA:c.1824C>T protEffect "p.[=, Val607_Gln656del]" HIFD_LMNA:c.1824C>T phenoCommon HGPS HIFD_LMNA:c.433G>A commonName c.433G>A HIFD_LMNA:c.433G>A protEffect p.Glu145Lys HIFD_LMNA:c.433G>A phenoCommon HGPS HIFD_LMNA:c.1822G>A commonName c.1822G>A HIFD_LMNA:c.1822G>A protEffect p.Gly608Ser HIFD_LMNA:c.1822G>A phenoCommon HGPS HIFD_LMNA:c.1411C>T commonName c.1411C>T HIFD_LMNA:c.1411C>T protEffect p.Arg471Cys HIFD_LMNA:c.1411C>T phenoCommon HGPS HIFD_LMNA:c.1579C>T commonName c.1579C>T HIFD_LMNA:c.1579C>T protEffect p.Arg527Cys HIFD_LMNA:c.1579C>T phenoCommon HGPS HIFD_LMNA:c.481G>A commonName c.481G>A HIFD_LMNA:c.481G>A protEffect p.Glu161Lys HIFD_LMNA:c.481G>A phenoCommon CMD1A HIFD_LMNA:c.28_29insA commonName c.28_29insA HIFD_LMNA:c.28_29insA protEffect p.Thr10AsnfsX31 HIFD_LMNA:c.28_29insA phenoCommon CMD1A HIFD_LMNA:c.169G>C commonName c.169G>C HIFD_LMNA:c.169G>C protEffect p.Ala57Pro HIFD_LMNA:c.169G>C phenoCommon WRN HIFD_LMNA:c.398G>T phenoCommon WRN HIFD_LMNA:c.419T>G commonName c.419T>G HIFD_LMNA:c.419T>G protEffect p.Leu140Arg HIFD_LMNA:c.419T>G phenoCommon WRN HIFD_LMNA:c.513G>A commonName c.513G>A HIFD_LMNA:c.513G>A protEffect p.= HIFD_LMNA:c.513G>A phenoCommon LGMD1B HIFD_LMNA:c.1621C>T commonName c.1621C>T HIFD_LMNA:c.1621C>T protEffect p.Arg541Cys HIFD_LMNA:c.1621C>T phenoCommon DCM-CD HIFD_LMNA:c.103C>G commonName c.103C>G HIFD_LMNA:c.103C>G protEffect p.Leu35Val HIFD_LMNA:c.103C>G phenoCommon EDMD2 HIFD_LMNA:c.743T>C commonName c.743T>C HIFD_LMNA:c.743T>C protEffect p.Leu248Pro HIFD_LMNA:c.743T>C phenoCommon EDMD2 HIFD_LMNA:c.800A>G commonName c.800A>G HIFD_LMNA:c.800A>G protEffect p.Tyr267Cys HIFD_LMNA:c.800A>G phenoCommon EDMD2 HIFD_LMNA:c.1337A>T commonName c.1337A>T HIFD_LMNA:c.1337A>T protEffect p.Asp446Val HIFD_LMNA:c.1337A>T phenoCommon EDMD2 HIFD_LMNA:c.1583C>G commonName c.1583C>G HIFD_LMNA:c.1583C>G protEffect p.Thr528Arg HIFD_LMNA:c.1583C>G phenoCommon EDMD2 HIFD_LMNA:c.1622G>A commonName c.1622G>A HIFD_LMNA:c.1622G>A protEffect p.Arg541His HIFD_LMNA:c.1622G>A phenoCommon EDMD2 HIFD_LMNA:c.73C>G commonName c.73C>G HIFD_LMNA:c.73C>G protEffect p.Arg25Gly HIFD_LMNA:c.73C>G phenoCommon EDMD2 HIFD_LMNA:c.1072G>A phenoCommon CMD HIFD_LMNA:c.99G>T commonName c.99G>T HIFD_LMNA:c.99G>T protEffect p.Glu33Asp HIFD_LMNA:c.29C>T commonName c.29C>T HIFD_LMNA:c.29C>T protEffect p.Thr10Ile HIFD_LMNA:c.29C>T phenoCommon HGPS HIFD_LMNA:c.1733A>T commonName c.1733A>T HIFD_LMNA:c.1733A>T protEffect p.Glu578Val HIFD_LMNA:c.1733A>T phenoCommon HGPS HIFD_LMNA:c.1930C>T phenoCommon HGPS HIFD_LMNA:c.1868C>G commonName c.1868C>G HIFD_LMNA:c.1868C>G protEffect "p.[Thr623Ser, Val622_Gln656del]" HIFD_LMNA:c.1868C>G phenoCommon HGPS HIFD_LMNA:c.427T>C commonName c.427T>C HIFD_LMNA:c.427T>C protEffect p.Ser143Pro HIFD_LMNA:c.427T>C phenoCommon CMD1A HIFD_LMNA:c.1046G>T commonName c.1046G>T HIFD_LMNA:c.1046G>T protEffect p.Arg349Leu HIFD_LMNA:c.1046G>T phenoCommon CMD1A HIFD_LMNA:c.1626G>C commonName c.1626G>C HIFD_LMNA:c.1626G>C protEffect p.Lys542Asn HIFD_LMNA:c.1626G>C phenoCommon HGPS HIFD_LMNA:c.1748C>T commonName c.1748C>T HIFD_LMNA:c.1748C>T protEffect p.Ser583Leu HIFD_LMNA:c.1748C>T phenoCommon FPLD1 HIFD_LMNA:c.[1583C>T; =]+[=; 1748C>T] commonName c.[1583C>T; =]+[=; 1748C>T] HIFD_LMNA:c.[1583C>T; =]+[=; 1748C>T] protEffect p.[Thr528Met; =]+[=; Ser583Leu] HIFD_LMNA:c.[1583C>T; =]+[=; 1748C>T] phenoCommon FPLD1 HIFD_LMNA:c.1824C>T phenoCommon RD HIFD_LMNA:c.1968+1G>A commonName c.1968+1G>A HIFD_LMNA:c.1968+1G>A protEffect p.Gly567_Gln656del HIFD_LMNA:c.1968+1G>A phenoCommon RD HIFD_LMNA:c.1621C>T phenoCommon CMD1A HIFD_LMNA:c.428C>T commonName c.428C>T HIFD_LMNA:c.428C>T protEffect p.Ser143Phe HIFD_LMNA:c.428C>T phenoCommon EDMD2 HIFD_LMNA:c.428C>T phenoCommon HGPS HIFD_LMNA:c.777T>A commonName c.777T>A HIFD_LMNA:c.777T>A protEffect p.Tyr259X HIFD_LMNA:c.777T>A phenoCommon LGMD1B HIFD_LMNA:c.1187A>G commonName c.1187A>G HIFD_LMNA:c.1187A>G protEffect p.Gln396Arg HIFD_LMNA:c.1187A>G phenoCommon EDMD2 HIFD_LMNA:c.640-10A>G commonName c.640-10A>G HIFD_LMNA:c.640-10A>G protEffect p.? HIFD_LMNA:c.640-10A>G phenoCommon CMD1A HIFD_LMNA:c.1930C>A commonName c.1930C>A HIFD_LMNA:c.1930C>A protEffect p.Arg644His HIFD_LMNA:c.1930C>A phenoCommon CMD1A HIFD_LMNA:c.1494G>T commonName c.1494G>T HIFD_LMNA:c.1494G>T protEffect p.Trp498Cys HIFD_LMNA:c.1494G>T phenoCommon LGMD1B HIFD_LMNA:c.1804G>A commonName c.1804G>A HIFD_LMNA:c.1804G>A protEffect p.Gly602Ser HIFD_LMNA:c.864_867delCCAC commonName c.864_867delCCAC HIFD_LMNA:c.864_867delCCAC protEffect p.His289ArgfsX189 HIFD_LMNA:c.864_867delCCAC phenoCommon LGMD1B HIFD_LMNA:c.1586C>T commonName c.1586C>T HIFD_LMNA:c.1586C>T protEffect p.Ala529Val HIFD_LMNA:c.1586C>T phenoCommon MADA HIFD_LMNA:c.575A>G commonName c.575A>G HIFD_LMNA:c.575A>G protEffect p.Asp192Gly HIFD_LMNA:c.575A>G phenoCommon CMD1A HIFD_LMNA:c.1621C>A commonName c.1621C>A HIFD_LMNA:c.1621C>A protEffect p.Arg541Ser HIFD_LMNA:c.1621C>A phenoCommon CMD1A HIFD_LMNA:c.1443C>G commonName c.1443C>G HIFD_LMNA:c.1443C>G protEffect p.Tyr481X HIFD_LMNA:c.1443C>G phenoCommon CMD1A HIFD_LMNA:c.1535T>C commonName c.1535T>C HIFD_LMNA:c.1535T>C protEffect p.Leu512Pro HIFD_LMNA:c.1535T>C phenoCommon LGMD1B HIFD_LMNA:c.425_426ins21 commonName c.425_426insGGCACTGGAGGCTCTGCTGAA HIFD_LMNA:c.425_426ins21 protEffect p.Leu141_Asn142ins7 HIFD_LMNA:c.425_426ins21 phenoCommon CMD1A HIFD_LMNA:c.394G>C commonName c.394G>C HIFD_LMNA:c.394G>C protEffect p.Ala132Pro HIFD_LMNA:c.394G>C phenoCommon CMD1A HIFD_LMNA:c.1085_1085delT commonName c.1085_1085delT HIFD_LMNA:c.1085_1085delT protEffect p.Leu363TrpfsX117 HIFD_LMNA:c.1085_1085delT phenoCommon CMD1A HIFD_LMNA:c.1493_1493delG commonName c.1493_1493delG HIFD_LMNA:c.1493_1493delG protEffect p.Ala499LeufsX47 HIFD_LMNA:c.1493_1493delG phenoCommon CMD1A HIFD_LMNA:c.1930C>T phenoCommon EDMD2 HIFD_LMNA:c.976T>A commonName c.976T>A HIFD_LMNA:c.976T>A protEffect p.Ser326Thr HIFD_LMNA:c.976T>A phenoCommon CMD1A HIFD_LMNA:c.244G>A commonName c.244G>A HIFD_LMNA:c.244G>A protEffect p.Glu82Lys HIFD_LMNA:c.244G>A phenoCommon CMD1A HIFD_LMNA:c.1488+5G>C commonName c.1488+5G>C HIFD_LMNA:c.1488+5G>C protEffect p.Ile497_Met664delins20 HIFD_LMNA:c.1488+5G>C phenoCommon FPLD2 HIFD_LMNA:c.[1318G>A; =]+[=; 1445G>A] commonName c.[1318G>A; =]+[=; 1445G>A] HIFD_LMNA:c.[1318G>A; =]+[=; 1445G>A] protEffect p.[Val440Met; =]+[=; Arg482Gln] HIFD_LMNA:c.[1318G>A; =]+[=; 1445G>A] phenoCommon FPLD2 HIFD_LMNA:c.908_909delCT commonName c.908_909delCT HIFD_LMNA:c.908_909delCT protEffect p.Ser303CysfsX26 HIFD_LMNA:c.908_909delCT phenoCommon CMD1A HIFD_LMNA:c.1960C>T commonName c.1960C>T HIFD_LMNA:c.1960C>T protEffect p.Arg654X HIFD_LMNA:c.1960C>T phenoCommon HGPS HIFD_LMNA:c.1579_1580insCTGC commonName c.1579_1580insCTGC HIFD_LMNA:c.1579_1580insCTGC protEffect p.Arg527ProfsX26 HIFD_LMNA:c.1579_1580insCTGC phenoCommon CMD1A HIFD_LMNA:c.31delC commonName c.31delC HIFD_LMNA:c.31delC protEffect p.Arg11AlafsX85 HIFD_LMNA:c.31delC phenoCommon CMD1A HIFD_LMNA:c.1157G>A commonName c.1157G>A HIFD_LMNA:c.1157G>A protEffect p.Arg386Lys HIFD_LMNA:c.1157G>A phenoCommon EDMD2 HIFD_LMNA:c.419T>C commonName c.419T>C HIFD_LMNA:c.419T>C protEffect p.Leu140Pro HIFD_LMNA:c.419T>C phenoCommon EDMD2 HIFD_LMNA:c.1130G>T phenoCommon EDMD2 HIFD_LMNA:c.-3_12del15 commonName c.-3_12delGCCATGGAGACCCCG HIFD_LMNA:c.-3_12del15 protEffect p.Met1_Pro4del HIFD_LMNA:c.-3_12del15 phenoCommon EDMD2 HIFD_LMNA:c.-3_12del15 phenoCommon CMT2 HIFD_LMNA:c.607G>A commonName c.607G>A HIFD_LMNA:c.607G>A protEffect p.Glu203Lys HIFD_LMNA:c.607G>A phenoCommon CMD1A HIFD_LMNA:c.673C>T commonName c.673C>T HIFD_LMNA:c.673C>T protEffect p.Arg225X HIFD_LMNA:c.673C>T phenoCommon CMD1A HIFD_LMNA:c.[1583C>T; =]+[=; 1619T>C] commonName c.[1583C>T; =]+[=; 1619T>C] HIFD_LMNA:c.[1583C>T; =]+[=; 1619T>C] protEffect p.[Thr528Met; =]+[=; Met540Thr] HIFD_LMNA:c.[1583C>T; =]+[=; 1619T>C] phenoCommon HGPS HIFD_LMNA:c.1130G>A phenoCommon EDMD2 HIFD_LMNA:c.31delC phenoCommon EDMD2 HIFD_LMNA:c.99G>C commonName c.99G>C HIFD_LMNA:c.99G>C protEffect p.Glu33Asp HIFD_LMNA:c.99G>C phenoCommon EDMD2 HIFD_LMNA:c.116A>G commonName c.116A>G HIFD_LMNA:c.116A>G protEffect p.Asn39Ser HIFD_LMNA:c.116A>G phenoCommon EDMD2 HIFD_LMNA:c.775T>G commonName c.775T>G HIFD_LMNA:c.775T>G protEffect p.Tyr259Asp HIFD_LMNA:c.775T>G phenoCommon EDMD2 HIFD_LMNA:c.1146C>T commonName c.1146C>T HIFD_LMNA:c.1146C>T protEffect p.= HIFD_LMNA:c.1146C>T phenoCommon LGMD1B HIFD_LMNA:c.1357C>T phenoCommon LGMD1B HIFD_LMNA:c.1583C>A phenoCommon LGMD1B HIFD_LMNA:c.[992G>A; =]+[=; 1039G>A] commonName c.[992G>A; =]+[=; 1039G>A] HIFD_LMNA:c.[992G>A; =]+[=; 1039G>A] protEffect p.[Arg331Glu; =]+[=; Glu347Lys] HIFD_LMNA:c.[992G>A; =]+[=; 1039G>A] phenoCommon CMD1A HIFD_LMNA:c.1718C>T phenoCommon LGMD1B HIFD_LMNA:c.1477C>T commonName c.1477C>T HIFD_LMNA:c.1477C>T protEffect p.Gln493X HIFD_LMNA:c.1477C>T phenoCommon AD-SMA HIFD_LMNA:c.1130G>T phenoCommon AD-SMA HIFD_LMNA:c.688G>A commonName c.688G>A HIFD_LMNA:c.688G>A protEffect p.Asp230Asn HIFD_LMNA:c.688G>A phenoCommon FPLD2 HIFD_LMNA:c.1195C>T commonName c.1195C>T HIFD_LMNA:c.1195C>T protEffect p.Arg399Cys HIFD_LMNA:c.1195C>T phenoCommon FPLD2 HIFD_LMNA:c.1718C>T phenoCommon FPLD2 HIFD_LMNA:c.176T>G commonName c.176T>G HIFD_LMNA:c.176T>G protEffect p.Leu59Arg HIFD_LMNA:c.176T>G phenoCommon MADA HIFD_LMNA:c.1968+1G>A phenoCommon HGPS HIFD_LMNA:c.1821G>A commonName c.1821G>A HIFD_LMNA:c.1821G>A protEffect p.= HIFD_LMNA:c.1821G>A phenoCommon HGPS HIFD_LMNA:c.575A>G phenoCommon DCM-CD HIFD_LMNA:c.568C>T phenoCommon DCM-CD HIFD_LMNA:c.481G>A phenoCommon DCM-CD HIFD_LMNA:c.158A>T commonName c.158A>T HIFD_LMNA:c.158A>T protEffect p.Glu53Val HIFD_LMNA:c.158A>T phenoCommon DCM-CD HIFD_LMNA:c.556G>A commonName c.556G>A HIFD_LMNA:c.556G>A protEffect p.Glu186Lys HIFD_LMNA:c.556G>A phenoCommon DCM-CD HIFD_LMNA:c.800A>G phenoCommon CMD1A HIFD_LMNA:c.855delG commonName c.855delG HIFD_LMNA:c.855delG protEffect p.Ala287LeufsX191 HIFD_LMNA:c.855delG phenoCommon CMD1A HIFD_LMNA:c.855delG phenoCommon LGMD1B HIFD_LMNA:c.992G>C commonName c.992G>C HIFD_LMNA:c.992G>C protEffect p.Arg331Pro HIFD_LMNA:c.992G>C phenoCommon CMD1A HIFD_LMNA:c.992G>C phenoCommon LGMD1B HIFD_LMNA:c.1370delA commonName c.1370delA HIFD_LMNA:c.1370delA protEffect p.Lys457SerfsX21 HIFD_LMNA:c.1370delA phenoCommon CMD1A HIFD_LMNA:c.1370delA phenoCommon LGMD1B HIFD_LMNA:c.1526_1527insC commonName c.1526_1527insC HIFD_LMNA:c.1526_1527insC protEffect p.Thr510TyrfsX42 HIFD_LMNA:c.1526_1527insC phenoCommon DCM-CD HIFD_LMNA:c.1162C>T commonName c.1162C>T HIFD_LMNA:c.1162C>T protEffect p.Arg388Cys HIFD_LMNA:c.1162C>T phenoCommon EDMD2 HIFD_LMNA:c.1162C>T phenoCommon CMD HIFD_LMNA:c.1368_1370delCAA commonName c.1368_1370delCAA HIFD_LMNA:c.1368_1370delCAA protEffect p.Asn456del HIFD_LMNA:c.1368_1370delCAA phenoCommon CMD HIFD_LMNA:c.1368_1370delCAA phenoCommon EDMD2 HIFD_LMNA:c.624_626delGAA commonName c.624_626delGAA HIFD_LMNA:c.624_626delGAA protEffect p.Lys208del HIFD_LMNA:c.624_626delGAA phenoCommon LGMD1B HIFD_LMNA:c.673C>T phenoCommon CCD HIFD_LMNA:c.1380+1G>A commonName c.1380+1G>A HIFD_LMNA:c.1380+1G>A protEffect p.? HIFD_LMNA:c.1380+1G>A phenoCommon CMD1A HIFD_LMNA:c.1315C>T commonName c.1315C>T HIFD_LMNA:c.1315C>T protEffect p.Arg439Cys HIFD_LMNA:c.1315C>T phenoCommon FPLD2 HIFD_LMNA:c.398G>T phenoCommon FPLD2 HIFD_LMNA:c.1512_1513insAG commonName c.1512_1513insAG HIFD_LMNA:c.1512_1513insAG protEffect p.Thr505ArgfsX44 HIFD_LMNA:c.1512_1513insAG phenoCommon CMD1A HIFD_LMNA:c.585C>A commonName c.585C>A HIFD_LMNA:c.585C>A protEffect p.Asn195Lys HIFD_LMNA:c.585C>A phenoCommon CMD1A HIFD_LMNA:c.[1318G>A; =]+[=; 1580G>A] commonName c.[1318G>A; =]+[=; 1580G>A] HIFD_LMNA:c.[1318G>A; =]+[=; 1580G>A] protEffect p.[Val440Met; =]+[=; Arg527His] HIFD_LMNA:c.[1318G>A; =]+[=; 1580G>A] phenoCommon MADA HIFD_LMNA:c.961C>T commonName c.961C>T HIFD_LMNA:c.961C>T protEffect p.Arg321X HIFD_LMNA:c.961C>T phenoCommon CMD1A HIFD_LMNA:c.625delA commonName c.625delA HIFD_LMNA:c.625delA protEffect p.Asn209ThrfsX271 HIFD_LMNA:c.625delA phenoCommon EDMD2 HIFD_LMNA:c.908_909delCT phenoCommon LGMD1B HIFD_LMNA:c.73C>T commonName c.73C>T HIFD_LMNA:c.73C>T protEffect p.Arg25Cys HIFD_LMNA:c.1622G>C commonName c.1622G>C HIFD_LMNA:c.1622G>C protEffect p.Arg541Pro HIFD_LMNA:c.1045C>T commonName c.1045C>T HIFD_LMNA:c.1045C>T protEffect p.Arg349Trp HIFD_LMNA:c.1772G>T commonName c.1772G>T HIFD_LMNA:c.1772G>T protEffect p.Arg156Cys HIFD_LMNA:c.1772G>T phenoCommon FPLD2 HIFD_LMNA:c.1558T>G commonName c.1558T>G HIFD_LMNA:c.1558T>G protEffect p.Trp520Gly HIFD_LMNA:c.1558T>G phenoCommon EDMD2 HIFD_LMNA:c.1142A>C commonName c.1142A>C HIFD_LMNA:c.1142A>C protEffect p.Glu381Ala HIFD_LMNA:c.1142A>C phenoCommon EDMD2 HIFD_LMNA:c.265C>T commonName c.265C>T HIFD_LMNA:c.265C>T protEffect p.Arg89Cys HIFD_LMNA:c.265C>T phenoCommon EDMD2 HIFD_LMNA:c.1585G>A commonName c.1585G>A HIFD_LMNA:c.1585G>A protEffect p.Ala529Thr HIFD_LMNA:c.1585G>A phenoCommon MADA HIFD_LMNA:c.1411C>G commonName c.1411C>G HIFD_LMNA:c.1411C>G protEffect p.Arg471Gly HIFD_LMNA:c.1411C>G phenoCommon FPLD2 HIFD_LMNA:c.1411C>G phenoCommon FPLD1 HIFD_LMNA:c.176T>G phenoCommon CMD1A HIFD_LMNA:c.1411C>T phenoCommon MADA HIFD_LMNA:c.1698C>T commonName c.1698C>T HIFD_LMNA:c.1698C>T protEffect p.= HIFD_LMNA:c.274C>T commonName c.274C>T HIFD_LMNA:c.274C>T protEffect p.Leu92Phe HIFD_LMNA:c.1184C>T commonName c.1184C>T HIFD_LMNA:c.1184C>T protEffect p.Ser395Leu HIFD_LMNA:c.1159C>G commonName c.1159C>G HIFD_LMNA:c.1159C>G protEffect p.Leu387Val HIFD_LMNA:c.1196G>A commonName c.1196G>A HIFD_LMNA:c.1196G>A protEffect p.Arg399His HIFD_LMNA:c.1262T>C commonName c.1262T>C HIFD_LMNA:c.1262T>C protEffect p.Leu421Pro HIFD_LMNA:c.1516C>G commonName c.1516C>G HIFD_LMNA:c.1516C>G protEffect p.His506Asp HIFD_LMNA:c.1964_1965insG commonName c.1964_1965insG HIFD_LMNA:c.1964_1965insG protEffect p.Thr655fsX49 HIFD_LMNA:c.1069G>C commonName c.1069G>C HIFD_LMNA:c.1069G>C protEffect p.Asp357His HIFD_LMNA:c.1069G>C phenoCommon DCM-CD HIFD_LMNA:c.302G>C commonName c.302G>C HIFD_LMNA:c.302G>C protEffect p.Arg101Pro HIFD_LMNA:c.302G>C phenoCommon CMD1A HIFD_LMNA:c.357-1G>T commonName c.357-1G>T HIFD_LMNA:c.357-1G>T protEffect p.? HIFD_LMNA:c.357-1G>T phenoCommon CMD1A HIFD_LMNA:c.497G>C commonName c.497G>C HIFD_LMNA:c.497G>C protEffect p.Arg166Pro HIFD_LMNA:c.497G>C phenoCommon CMD1A HIFD_LMNA:c.569G>A commonName c.569G>A HIFD_LMNA:c.569G>A protEffect p.Arg190Gln HIFD_LMNA:c.569G>A phenoCommon CMD1A HIFD_LMNA:c.629T>G commonName c.629T>G HIFD_LMNA:c.629T>G protEffect p.Ile210Ser HIFD_LMNA:c.629T>G phenoCommon CMD1A HIFD_LMNA:c.700C>T commonName c.700C>T HIFD_LMNA:c.700C>T protEffect p.Gln234X HIFD_LMNA:c.700C>T phenoCommon CMD1A HIFD_LMNA:c.952G>A commonName c.952G>A HIFD_LMNA:c.952G>A protEffect p.Ala318Thr HIFD_LMNA:c.952G>A phenoCommon CMD1A HIFD_LMNA:c.1114delG commonName c.1114delG HIFD_LMNA:c.1114delG protEffect p.Glu372ArgfsX107 HIFD_LMNA:c.1114delG phenoCommon CMD1A HIFD_LMNA:c.1488+5G>A commonName c.1488+5G>A HIFD_LMNA:c.1488+5G>A protEffect p.? HIFD_LMNA:c.1488+5G>A phenoCommon LGMD1B HIFD_LMNA:c.1163G>A commonName c.1163G>A HIFD_LMNA:c.1163G>A protEffect p.Arg388His HIFD_LMNA:c.1163G>A phenoCommon CMD1A HIFD_LMNA:c.1195C>T phenoCommon CMD1A HIFD_LMNA:c.1307_1308insGCAC commonName c.1307_1308insGCAC HIFD_LMNA:c.1307_1308insGCAC protEffect p.Ser437HisfsX1 HIFD_LMNA:c.1307_1308insGCAC phenoCommon CMD1A HIFD_LMNA:c.1412G>A commonName c.1412G>A HIFD_LMNA:c.1412G>A protEffect p.Arg471His HIFD_LMNA:c.1412G>A phenoCommon CMD1A HIFD_LMNA:c.1424_1425insAGA commonName c.1424_1425insAGA HIFD_LMNA:c.1424_1425insAGA protEffect p.Gly474_Asp475insGlu HIFD_LMNA:c.1424_1425insAGA phenoCommon CMD1A HIFD_LMNA:c.1960C>T phenoCommon CMD1A HIFD_LMNA:c.1072G>T commonName c.1072G>T HIFD_LMNA:c.1072G>T protEffect p.Glu358X HIFD_LMNA:c.1072G>T phenoCommon CMD1A HIFD_LMNA:c.1579C>T phenoCommon MADA HIFD_LMNA:c.1496_1496delC commonName c.1496_1496delC HIFD_LMNA:c.1496_1496delC protEffect p.Ala499ValfsX141 HIFD_LMNA:c.1496_1496delC phenoCommon CMT2 HIFD_LMNA:c.1609-3C>G commonName c.1609-3C>G HIFD_LMNA:c.1609-3C>G protEffect p.? HIFD_LMNA:c.1609-3C>G phenoCommon LGMD1B HIFD_LMNA:c.1609-12T>G commonName c.1609-12T>G HIFD_LMNA:c.1609-12T>G protEffect p.Glu536fsX14 HIFD_LMNA:c.82C>T phenoCommon CMD1A HIFD_LMNA:c.548T>C commonName c.548T>C HIFD_LMNA:c.548T>C protEffect p.Leu183Pro HIFD_LMNA:c.548T>C phenoCommon CMD1A HIFD_LMNA:c.656A>C commonName c.656A>C HIFD_LMNA:c.656A>C protEffect p.Lys219Thr HIFD_LMNA:c.656A>C phenoCommon CMD1A HIFD_LMNA:c.1492T>A commonName c.1492T>A HIFD_LMNA:c.1492T>A protEffect p.Trp498Arg HIFD_LMNA:c.1492T>A phenoCommon EDMD2 HIFD_LMNA:c.1492T>A phenoCommon CMD1A HIFD_LMNA:c.1130G>T phenoCommon CMD1A HIFD_LMNA:c.203_208delAGGTGG commonName c.203_208delAGGTGG HIFD_LMNA:c.203_208delAGGTGG protEffect p.Glu68_Val69del HIFD_LMNA:c.203_208delAGGTGG phenoCommon CMD1A HIFD_LMNA:c.203_208delAGGTGG phenoCommon EDMD2 HIFD_LMNA:c.736C>T commonName c.736C>T HIFD_LMNA:c.736C>T protEffect p.Gln246X HIFD_LMNA:c.736C>T phenoCommon CMD1A HIFD_LMNA:c.936+1G>T commonName c.936+1G>T HIFD_LMNA:c.936+1G>T protEffect p.? HIFD_LMNA:c.936+1G>T phenoCommon CMD1A HIFD_LMNA:c.514-1G>A commonName c.514-1G>A HIFD_LMNA:c.514-1G>A protEffect p.? HIFD_LMNA:c.514-1G>A phenoCommon DCM-CD HIFD_LMNA:c.1157+1G>A commonName c.1157+1G>A HIFD_LMNA:c.1157+1G>A protEffect p.? HIFD_LMNA:c.1157+1G>A phenoCommon DCM-CD HIFD_LMNA:c.1580G>C phenoCommon EDMD3 HIFD_LMNA:c.608A>T commonName c.608A>T HIFD_LMNA:c.608A>T protEffect p.Glu203Val HIFD_LMNA:c.608A>T phenoCommon CMD1A HIFD_LMNA:c.898G>A commonName c.898G>A HIFD_LMNA:c.898G>A protEffect p.Asp300Asn HIFD_LMNA:c.898G>A phenoCommon WRN HIFD_LMNA:c.1608+1G>A commonName c.1608+1G>A HIFD_LMNA:c.1608+1G>A protEffect p.? HIFD_LMNA:c.1608+1G>A phenoCommon LGMD1B HIFD_LMNA:c.799T>C commonName c.799T>C HIFD_LMNA:c.799T>C protEffect p.Tyr267His HIFD_LMNA:c.799T>C phenoCommon CCD HIFD_LMNA:c.485T>C commonName c.485T>C HIFD_LMNA:c.485T>C protEffect p.Leu162Pro HIFD_LMNA:c.485T>C phenoCommon EDMD2 HIFD_LMNA:c.1139T>C commonName c.1139T>C HIFD_LMNA:c.1139T>C protEffect p.Leu380Ser HIFD_LMNA:c.1139T>C phenoCommon CMD HIFD_LMNA:c.506delT commonName c.506delT HIFD_LMNA:c.506delT protEffect p.Val169GlyfsX7 HIFD_LMNA:c.506delT phenoCommon WRN HIFD_LMNA:c.745C>T commonName c.745C>T HIFD_LMNA:c.745C>T protEffect p.Arg249Trp HIFD_LMNA:c.745C>T phenoCommon CMD HIFD_LMNA:c.905T>C commonName c.905T>C HIFD_LMNA:c.905T>C protEffect p.Leu302Pro HIFD_LMNA:c.1364G>C commonName c.1364G>C HIFD_LMNA:c.1364G>C protEffect p.Arg455Pro HIFD_LMNA:c.1358G>C commonName c.1358G>C HIFD_LMNA:c.1358G>C protEffect p.Arg453Pro HIFD_LMNA:c.1366A>G commonName c.1366A>G HIFD_LMNA:c.1366A>G protEffect p.Asn456Asp HIFD_LMNA:c.1381-2A>G commonName c.1381-2A>G HIFD_LMNA:c.1381-2A>G protEffect p.? HIFD_LMNA:c.106C>T commonName c.106C>T HIFD_LMNA:c.106C>T protEffect p.Gln36X HIFD_LMNA:c.106C>T phenoCommon DCM-CD HIFD_LMNA:c.810+63C>A commonName c.810+63C>A HIFD_LMNA:c.810+63C>A protEffect p.? HIFD_LMNA:c.810+63C>A phenoCommon LAF HIFD_LMNA:c.1158-44C>T commonName c.1158-44C>T HIFD_LMNA:c.1158-44C>T protEffect p.? HIFD_LMNA:c.1158-44C>T phenoCommon LAF HIFD_LMNA:c.937-46A>G commonName c.937-46A>G HIFD_LMNA:c.937-46A>G protEffect p.? HIFD_LMNA:c.937-46A>G phenoCommon LAF HIFD_LMNA:c.1149G>A commonName c.1149G>A HIFD_LMNA:c.1149G>A protEffect p.= HIFD_LMNA:c.1149G>A phenoCommon LAF HIFD_LMNA:c.1803C>T commonName c.1803C>T HIFD_LMNA:c.1803C>T protEffect p.= HIFD_LMNA:c.1803C>T phenoCommon LAF HIFD_LMNA:c.373G>A commonName c.373G>A HIFD_LMNA:c.373G>A protEffect p.Gly125Ser HIFD_LMNA:c.373G>A phenoCommon LAF HIFD_LMNA:c.1243G>A commonName c.1243G>A HIFD_LMNA:c.1243G>A protEffect p.Val415Ile HIFD_LMNA:c.1243G>A phenoCommon LAF HIFD_LMNA:c.[373G>A; =]+[=; 1243G>A] commonName c.[373G>A; =]+[=; 1243G>A] HIFD_LMNA:c.[373G>A; =]+[=; 1243G>A] protEffect p.[Gly125Ser; =]+[=; Val415Ile] HIFD_LMNA:c.[373G>A; =]+[=; 1243G>A] phenoCommon LAF HIFD_LMNA:c.1462A>C commonName c.1462A>C HIFD_LMNA:c.1462A>C protEffect p.Thr488Pro HIFD_LMNA:c.1462A>C phenoCommon LAF HIFD_LMNA:c.139G>C commonName c.139G>C HIFD_LMNA:c.139G>C protEffect p.Asp47His HIFD_LMNA:c.139G>C phenoCommon EDMD2 HIFD_LMNA:c.694G>C commonName c.694G>C HIFD_LMNA:c.694G>C protEffect p.Gly232Arg HIFD_LMNA:c.694G>C phenoCommon EDMD2 HIFD_LMNA:c.746G>A phenoCommon LGMD1B HIFD_LMNA:c.1622G>A phenoCommon CMD1A HIFD_LMNA:c.1048G>C commonName c.1048G>C HIFD_LMNA:c.1048G>C protEffect p.Ala350Pro HIFD_LMNA:c.1048G>C phenoCommon CMD1A HIFD_LMNA:c.155T>C commonName c.155T>C HIFD_LMNA:c.155T>C protEffect p.Leu52Pro HIFD_LMNA:c.155T>C phenoCommon CMD1A HIFD_LMNA:c.1904G>A commonName c.1904G>A HIFD_LMNA:c.1904G>A protEffect p.Gly635Asp HIFD_LMNA:c.1904G>A phenoCommon CMD1A HIFD_LMNA:c.1930C>T phenoCommon FPLD2 HIFD_LMNA:c.781_783delAAGins18 commonName c.781_783delAAGinsGTGGAGCAGTATAAGAAA HIFD_LMNA:c.781_783delAAGins18 protEffect p.Lys261delins6 HIFD_LMNA:c.781_783delAAGins18 phenoCommon EDMD2 HIFD_LMNA:c.1633C>T commonName c.1633C>T HIFD_LMNA:c.1633C>T protEffect p.Arg545Cys HIFD_LMNA:c.1633C>T phenoCommon EDMD2 HIFD_LMNA:c.98A>G commonName c.98A>G HIFD_LMNA:c.98A>G protEffect p.Glu33Gly HIFD_LMNA:c.98A>G phenoCommon EDMD2 HIFD_LMNA:c.136A>G commonName c.136A>G HIFD_LMNA:c.136A>G protEffect p.Ile46Val HIFD_LMNA:c.136A>G phenoCommon EDMD2 HIFD_LMNA:c.274C>T phenoCommon CMD1A HIFD_LMNA:c.1567G>A commonName c.1567G>A HIFD_LMNA:c.1567G>A protEffect p.Gly523Arg HIFD_LMNA:c.1567G>A phenoCommon CMD1A HIFD_LMNA:c.1157G>T commonName c.1157G>T HIFD_LMNA:c.1157G>T protEffect p.Arg386Met HIFD_LMNA:c.1157G>T phenoCommon EDMD2 HIFD_LMNA:c.775T>C commonName c.775T>C HIFD_LMNA:c.775T>C protEffect p.Tyr259His HIFD_LMNA:c.815_818delACAAinsCCAGAC commonName c.815_818delACAAinsCCAGAC HIFD_LMNA:c.815_818delACAAinsCCAGAC protEffect p.Asp272AlafsX208 HIFD_LMNA:c.1063C>T commonName c.1063C>T HIFD_LMNA:c.1063C>T protEffect p.Gln355X HIFD_LMNA:c.1063C>T phenoCommon CMD1A HIFD_LMNA:c.992G>A commonName c.992G>A HIFD_LMNA:c.992G>A protEffect p.Arg331Gln HIFD_LMNA:c.992G>A phenoCommon CMD1A HIFD_LMNA:c.1294C>T commonName c.1294C>T HIFD_LMNA:c.1294C>T protEffect p.Gln432X HIFD_LMNA:c.1294C>T phenoCommon CMD1A HIFD_LMNA:c.1318G>A commonName c.1318G>A HIFD_LMNA:c.1318G>A protEffect p.Val440Met HIFD_LMNA:c.1318G>A phenoCommon CMD1A HIFD_LMNA:c.406G>C commonName c.406G>C HIFD_LMNA:c.406G>C protEffect p.Asp136His HIFD_LMNA:c.406G>C phenoCommon HGPS HIFD_LMNA:c.11C>G commonName c.11C>G HIFD_LMNA:c.11C>G protEffect p.Pro4Arg HIFD_LMNA:c.11C>G phenoCommon HGPS HIFD_LMNA:c.1762T>C commonName c.1762T>C HIFD_LMNA:c.1762T>C protEffect p.Cys588Arg HIFD_LMNA:c.1762T>C phenoCommon HGPS HIFD_LMNA:c.331G>T phenoCommon HGPS HIFD_LMNA:c.475G>A commonName c.475G>A HIFD_LMNA:c.475G>A protEffect p.Glu159Lys HIFD_LMNA:c.475G>A phenoCommon HGPS HIFD_LMNA:c.1303C>T commonName c.1303C>T HIFD_LMNA:c.1303C>T protEffect p.Arg435Cys HIFD_LMNA:c.1303C>T phenoCommon HGPS HIFD_LMNA:c.1057C>A commonName c.1057C>A HIFD_LMNA:c.1057C>A protEffect p.Gln353Lys HIFD_LMNA:c.1057C>A phenoCommon CMD1A HIFD_LMNA:c.73C>G phenoCommon CMD1A HIFD_LMNA:c.73C>G phenoCommon LGMD1B HIFD_LMNA:c.575A>T commonName c.575A>T HIFD_LMNA:c.575A>T protEffect p.Asp192Val HIFD_LMNA:c.575A>T phenoCommon FPLD2 HIFD_LMNA:c.1102_1130dup29 commonName c.1102_1130dupGCCCTGGACATGGAGATCCACGCCTACCG HIFD_LMNA:c.1102_1130dup29 protEffect p.Lys378ProfsX112 HIFD_LMNA:c.1102_1130dup29 phenoCommon CMD1A HIFD_LMNA:c.673C>T phenoCommon LGMD1B HIFD_LMNA:c.788T>C commonName c.788T>C HIFD_LMNA:c.788T>C protEffect p.Leu263Pro HIFD_LMNA:c.788T>C phenoCommon EDMD2 HIFD_LMNA:c.565C>T commonName c.565C>T HIFD_LMNA:c.565C>T protEffect p.Arg189Trp HIFD_LMNA:c.565C>T phenoCommon CMD1A HIFD_LMNA:c.302G>C phenoCommon LGMD1B HIFD_LMNA:c.115A>T commonName c.115A>T HIFD_LMNA:c.115A>T protEffect p.Asn39Tyr HIFD_LMNA:c.115A>T phenoCommon CMD HIFD_LMNA:c.357C>T commonName c.357C>T HIFD_LMNA:c.357C>T protEffect p.= HIFD_LMNA:c.357C>T phenoCommon EDMD2 HIFD_LMNA:c.568_570dupCGG commonName c.568_570dupCGG HIFD_LMNA:c.568_570dupCGG protEffect p.Arg190dup HIFD_LMNA:c.568_570dupCGG phenoCommon EDMD2 HIFD_LMNA:c.618C>G commonName c.618C>G HIFD_LMNA:c.618C>G protEffect p.Phe206Leu HIFD_LMNA:c.618C>G phenoCommon EDMD2 HIFD_LMNA:c.802T>C commonName c.802T>C HIFD_LMNA:c.802T>C protEffect p.Ser268Pro HIFD_LMNA:c.802T>C phenoCommon EDMD2 HIFD_LMNA:c.810G>A commonName c.810G>A HIFD_LMNA:c.810G>A protEffect p.= HIFD_LMNA:c.810G>A phenoCommon EDMD2 HIFD_LMNA:c.810+1G>A commonName c.810+1G>A HIFD_LMNA:c.810+1G>A protEffect p.? HIFD_LMNA:c.810+1G>A phenoCommon EDMD2 HIFD_LMNA:c.883T>C commonName c.883T>C HIFD_LMNA:c.883T>C protEffect p.Ser295Pro HIFD_LMNA:c.883T>C phenoCommon EDMD2 HIFD_LMNA:c.1081G>A commonName c.1081G>A HIFD_LMNA:c.1081G>A protEffect p.Glu361Lys HIFD_LMNA:c.1081G>A phenoCommon EDMD2 HIFD_LMNA:c.1064_1066delAGC commonName c.1064_1066delAGC HIFD_LMNA:c.1064_1066delAGC protEffect p.Gln355del HIFD_LMNA:c.1064_1066delAGC phenoCommon EDMD2 HIFD_LMNA:c.1158-2A>G commonName c.1158-2A>G HIFD_LMNA:c.1158-2A>G protEffect p.? HIFD_LMNA:c.1158-2A>G phenoCommon EDMD2 HIFD_LMNA:c.1346G>A commonName c.1346G>A HIFD_LMNA:c.1346G>A protEffect p.Gly449Asp HIFD_LMNA:c.1346G>A phenoCommon EDMD2 HIFD_LMNA:c.1361T>C commonName c.1361T>C HIFD_LMNA:c.1361T>C protEffect p.Leu454Pro HIFD_LMNA:c.1361T>C phenoCommon EDMD2 HIFD_LMNA:c.1399T>C commonName c.1399T>C HIFD_LMNA:c.1399T>C protEffect p.Trp467Arg HIFD_LMNA:c.1399T>C phenoCommon EDMD2 HIFD_LMNA:c.1488+1G>A commonName c.1488+1G>A HIFD_LMNA:c.1488+1G>A protEffect p.? HIFD_LMNA:c.1488+1G>A phenoCommon EDMD2 HIFD_LMNA:c.745C>T phenoCommon EDMD2 HIFD_LMNA:c.[745C>T; 1930C>T] commonName c.[745C>T; 1930C>T] HIFD_LMNA:c.[745C>T; 1930C>T] protEffect p.[Arg249Trp; Arg644Cys] HIFD_LMNA:c.[745C>T; 1930C>T] phenoCommon EDMD2 HIFD_LMNA:c.812T>C commonName c.812T>C HIFD_LMNA:c.812T>C protEffect p.Leu271Pro HIFD_LMNA:c.812T>C phenoCommon EDMD2 HIFD_LMNA:c.1381-2A>G phenoCommon EDMD2 HIFD_LMNA:c.[1381-1G>T; 1381G>T] commonName c.[1381-1G>T; 1381G>T] HIFD_LMNA:c.[1381-1G>T; 1381G>T] protEffect p.[?; Asp461Tyr] HIFD_LMNA:c.[1381-1G>T; 1381G>T] phenoCommon EDMD2 HIFD_LMNA:c.1526dupC commonName c.1526dupC HIFD_LMNA:c.1526dupC protEffect p.Thr510TyrfsX42 HIFD_LMNA:c.1526dupC phenoCommon EDMD2 HIFD_LMNA:c.1621C>A phenoCommon EDMD2 HIFD_LMNA:c.1622G>C phenoCommon EDMD2 HIFD_LMNA:c.1804G>A phenoCommon EDMD2 HIFD_LMNA:c.566_567delGGinsCC commonName c.566_567delGGinsCC HIFD_LMNA:c.566_567delGGinsCC protEffect p.Arg189Pro HIFD_LMNA:c.566_567delGGinsCC phenoCommon EDMD2 HIFD_LMNA:c.104T>C commonName c.104T>C HIFD_LMNA:c.104T>C protEffect p.Leu35Pro HIFD_LMNA:c.104T>C phenoCommon CMD HIFD_LMNA:c.1621C>G commonName c.1621C>G HIFD_LMNA:c.1621C>G protEffect p.Arg541Gly HIFD_LMNA:c.1621C>G phenoCommon CMD1A HIFD_LMNA:c.937-11C>G commonName c.937-11C>G HIFD_LMNA:c.937-11C>G protEffect p.Leu313GlyfsX31 HIFD_LMNA:c.937-11C>G phenoCommon CMD1A HIFD_LMNA:c.348_349insG commonName c.348_349insG HIFD_LMNA:c.348_349insG protEffect p.Lys117GlufsX10 HIFD_LMNA:c.348_349insG phenoCommon CMD1A HIFD_LMNA:c.1445G>A phenoCommon T2D HIFD_LMNA:c.1303C>T phenoCommon RD HIFD_LMNA:c.1232G>A commonName c.1232G>A HIFD_LMNA:c.1232G>A protEffect p.Gly411Asp HIFD_LMNA:c.1232G>A phenoCommon FPLD2 HIFD_LMNA:c.1892G>A commonName c.1892G>A HIFD_LMNA:c.1892G>A protEffect p.Gly631Asp HIFD_LMNA:c.1892G>A phenoCommon FPLD2 HIFD_LMNA:c.412G>A commonName c.412G>A HIFD_LMNA:c.412G>A protEffect p.Glu138Lys HIFD_LMNA:c.412G>A phenoCommon HGPS HIFD_LMNA:c.1711C>A commonName c.1711C>A HIFD_LMNA:c.1711C>A protEffect p.Arg571Ser HIFD_LMNA:c.1711C>A phenoCommon CMD1A HIFD_LMNA:c.1711C>T commonName c.1711C>T HIFD_LMNA:c.1711C>T protEffect p.Arg571Cys HIFD_LMNB2:c.644G>A commonName c.644G>A HIFD_LMNB2:c.644G>A protEffect p.Arg215Gln HIFD_LMNB2:c.644G>A phenoCommon APL HIFD_LMNB2:c.205-6C>T commonName c.205-6C>T HIFD_LMNB2:c.205-6C>T protEffect p.? HIFD_LMNB2:c.205-6C>T phenoCommon APL HIFD_LMNB2:c.1219G>A commonName c.1219G>A HIFD_LMNB2:c.1219G>A protEffect p.Ala407Thr HIFD_LMNB2:c.1219G>A phenoCommon APL HIFD_BFSP2:c.859C>T commonName c.859C>T HIFD_BFSP2:c.859C>T protEffect p.Arg287Trp HIFD_BFSP2:c.859C>T phenoCommon ADC HIFD_BFSP2:c.697_699delGAA commonName c.697_699delGAA HIFD_BFSP2:c.697_699delGAA protEffect p.Glu233del HIFD_BFSP2:c.697_699delGAA phenoCommon ADC HIFD_KRT12:c.55C>T commonName c.55C>T HIFD_KRT12:c.55C>T protEffect p.Arg19Trp HIFD_KRT12:c.55C>T disease not phenotype-associated HIFD_KRT12:c.43C>T commonName c.43C>T HIFD_KRT12:c.43C>T protEffect p.Pro15Ser HIFD_KRT12:c.43C>T disease not phenotype-associated HIFD_KRT12:c.*360A>C commonName c.*360A>C HIFD_KRT12:c.*360A>C protEffect p.= HIFD_KRT12:c.*360A>C disease not phenotype-associated HIFD_KRT14:c.369T>C commonName c.369T>C HIFD_KRT14:c.369T>C protEffect p.= HIFD_KRT14:c.369T>C disease not phenotype-associated HIFD_KRT14:c.[556G>A]+[1237G>A] commonName c.[556G>A]+[1237G>A] HIFD_KRT14:c.[556G>A]+[1237G>A] protEffect p.[Val186Met]+[Ala413Thr] HIFD_KRT14:c.[556G>A]+[1237G>A] phenoCommon EBS-K HIFD_KRT14:c.88C>T commonName c.88C>T HIFD_KRT14:c.88C>T protEffect p.Arg30Lys HIFD_KRT14:c.88C>T phenoCommon EBS-WC HIFD_KRT14:c.88C>T disease not phenotype-associated HIFD_KRT14:c.231C>T commonName c.231C>T HIFD_KRT14:c.231C>T protEffect p.= HIFD_KRT14:c.231C>T disease not phenotype-associated HIFD_KRT14:c.280G>A commonName c.280G>A HIFD_KRT14:c.280G>A protEffect p.Ala94Thr HIFD_KRT14:c.280G>A disease not phenotype-associated HIFD_KRT14:c.6C>T commonName c.6C>T HIFD_KRT14:c.6C>T protEffect p.= HIFD_KRT14:c.6C>T disease not phenotype-associated HIFD_KRT14:c.188A>G commonName c.188A>G HIFD_KRT14:c.188A>G protEffect p.Tyr63Cys HIFD_KRT14:c.188A>G disease not phenotype-associated HIFD_KRT14:c.189C>T commonName c.189C>T HIFD_KRT14:c.189C>T protEffect p.= HIFD_KRT14:c.189C>T disease not phenotype-associated HIFD_KRT14:c.193C>T commonName c.193C>T HIFD_KRT14:c.193C>T protEffect p.= HIFD_KRT14:c.193C>T disease not phenotype-associated HIFD_KRT14:c.1322-13A>G commonName c.1322-13A>G HIFD_KRT14:c.1322-13A>G protEffect p.= HIFD_KRT14:c.1322-13A>G disease not phenotype-associated HIFD_KRT17:c.309T>C commonName c.309T>C HIFD_KRT17:c.309T>C protEffect p.= HIFD_KRT17:c.309T>C disease not phenotype-associated HIFD_KRT18:c.418-4C>G commonName c.418-4C>G HIFD_KRT18:c.418-4C>G protEffect p.= HIFD_KRT18:c.418-4C>G disease not phenotype-associated HIFD_KRT18:c.689G>C commonName c.689G>C HIFD_KRT18:c.689G>C protEffect p.Ser230Thr HIFD_KRT18:c.689G>C disease not phenotype-associated HIFD_KRT18:c.993C>T commonName c.993C>T HIFD_KRT18:c.993C>T protEffect p.= HIFD_KRT18:c.993C>T disease not phenotype-associated HIFD_KRT18:c.-15C>T commonName c.-15C>T HIFD_KRT18:c.-15C>T protEffect p.= HIFD_KRT18:c.-15C>T disease not phenotype-associated HIFD_KRT18:c.500+38G>A commonName c.500+38G>A HIFD_KRT18:c.500+38G>A protEffect p.= HIFD_KRT18:c.500+38G>A disease not phenotype-associated HIFD_KRT19:c.-99G>C commonName c.-99G>C HIFD_KRT19:c.-99G>C protEffect p.= HIFD_KRT19:c.-99G>C disease not phenotype-associated HIFD_KRT19:c.685G>A commonName c.685G>A HIFD_KRT19:c.685G>A protEffect p.Val229Met HIFD_KRT19:c.685G>A disease not phenotype-associated HIFD_KRT19:c.179C>G commonName c.179C>G HIFD_KRT19:c.179C>G protEffect p.Ala60Gly HIFD_KRT19:c.179C>G disease not phenotype-associated HIFD_KRT19:c.90C>T commonName c.90C>T HIFD_KRT19:c.90C>T protEffect p.= HIFD_KRT19:c.90C>T disease not phenotype-associated HIFD_KRT19:c.471T>C commonName c.471T>C HIFD_KRT19:c.471T>C protEffect p.= HIFD_KRT19:c.471T>C disease not phenotype-associated HIFD_KRT19:c.552C>T commonName c.552C>T HIFD_KRT19:c.552C>T protEffect p.= HIFD_KRT19:c.552C>T disease not phenotype-associated HIFD_KRT31:c.1097+1G>A commonName c.1097+1G>A HIFD_KRT31:c.1097+1G>A protEffect p.Asn366_Arg416delinsLysX HIFD_KRT31:c.1097+1G>A disease not phenotype-associated HIFD_KRT9:c.426A>C commonName c.426A>C HIFD_KRT9:c.426A>C protEffect p.= HIFD_KRT9:c.426A>C disease not phenotype-associated HIFD_KRT9:c.216C>T commonName c.216C>T HIFD_KRT9:c.216C>T protEffect p.= HIFD_KRT9:c.216C>T disease not phenotype-associated HIFD_KRT9:c.429A>C commonName c.429A>C HIFD_KRT9:c.429A>C protEffect p.= HIFD_KRT9:c.429A>C disease not phenotype-associated HIFD_KRT1:c.720G>A commonName c.720G>A HIFD_KRT1:c.720G>A protEffect p.= HIFD_KRT1:c.720G>A disease not phenotype-associated HIFD_KRT1:c.1389C>T commonName c.1389C>T HIFD_KRT1:c.1389C>T protEffect p.= HIFD_KRT1:c.1389C>T disease not phenotype-associated HIFD_KRT1:c.1413C>A commonName c.1413C>A HIFD_KRT1:c.1413C>A protEffect p.= HIFD_KRT1:c.1413C>A disease not phenotype-associated HIFD_KRT1:c.1657_1677del21 commonName c.1657_1677delGGCTCCGGAGGTAGCAGCTAC HIFD_KRT1:c.1657_1677del21 protEffect p.Gly553_Tyr559del HIFD_KRT1:c.1657_1677del21 phenoCommon IHCM HIFD_KRT1:c.1657_1677del21 disease not phenotype-associated HIFD_KRT1:c.1570_1596del27 commonName c.1570_1596delGGCTACGGCTCTGGAGGTAGCAGCTAT HIFD_KRT1:c.1570_1596del27 protEffect p.Gly524_Tyr532del HIFD_KRT1:c.1570_1596del27 disease not phenotype-associated HIFD_KRT1:c.800G>A commonName c.800G>A HIFD_KRT1:c.800G>A protEffect p.Arg267Gln HIFD_KRT1:c.800G>A disease not phenotype-associated HIFD_KRT1:c.1762G>A commonName c.1762G>A HIFD_KRT1:c.1762G>A protEffect p.Gly588Arg HIFD_KRT1:c.1762G>A disease not phenotype-associated HIFD_KRT1:c.1360G>T commonName c.1360G>T HIFD_KRT1:c.1360G>T protEffect p.Ala454Ser HIFD_KRT1:c.1360G>T disease not phenotype-associated HIFD_KRT1:c.963+52T>G commonName c.963+52T>G HIFD_KRT1:c.963+52T>G protEffect p.= HIFD_KRT1:c.963+52T>G disease not phenotype-associated HIFD_KRT1:c.75C>T commonName c.75C>T HIFD_KRT1:c.75C>T protEffect p.= HIFD_KRT1:c.75C>T disease not phenotype-associated HIFD_KRT1:c.868-31T>C commonName c.868-31T>C HIFD_KRT1:c.868-31T>C protEffect p.= HIFD_KRT1:c.868-31T>C disease not phenotype-associated HIFD_KRT1:c.1072A>T commonName c.1072A>T HIFD_KRT1:c.1072A>T protEffect p.Asn358Tyr HIFD_KRT1:c.1072A>T disease not phenotype-associated HIFD_KRT1:c.720A>G commonName c.720A>G HIFD_KRT1:c.720A>G protEffect p.= HIFD_KRT1:c.720A>G disease not phenotype-associated HIFD_KRT5:c.237A>T commonName c.237A>T HIFD_KRT5:c.237A>T protEffect p.Arg79Ser HIFD_KRT5:c.237A>T disease not phenotype-associated HIFD_KRT5:c.591C>A commonName c.591C>A HIFD_KRT5:c.591C>A protEffect p.Asp197Glu HIFD_KRT5:c.591C>A disease not phenotype-associated HIFD_KRT5:c.1159A>T commonName c.1159A>T HIFD_KRT5:c.1159A>T protEffect p.Thr387Ser HIFD_KRT5:c.1159A>T disease not phenotype-associated HIFD_KRT5:c.240A>T commonName c.240A>T HIFD_KRT5:c.240A>T protEffect p.= HIFD_KRT5:c.240A>T disease not phenotype-associated HIFD_KRT5:c.594C>T commonName c.594C>T HIFD_KRT5:c.594C>T protEffect p.= HIFD_KRT5:c.594C>T disease not phenotype-associated HIFD_KRT5:c.630T>C commonName c.630T>C HIFD_KRT5:c.630T>C protEffect p.= HIFD_KRT5:c.630T>C disease not phenotype-associated HIFD_KRT5:c.382G>C commonName c.382G>C HIFD_KRT5:c.382G>C protEffect p.Gly128Arg HIFD_KRT5:c.382G>C disease not phenotype-associated HIFD_KRT5:c.513G>A commonName c.513G>A HIFD_KRT5:c.513G>A protEffect p.= HIFD_KRT5:c.513G>A disease not phenotype-associated HIFD_KRT5:c.732G>A commonName c.732G>A HIFD_KRT5:c.732G>A protEffect p.= HIFD_KRT5:c.732G>A disease not phenotype-associated HIFD_KRT5:c.1065A>C commonName c.1065A>C HIFD_KRT5:c.1065A>C protEffect p.= HIFD_KRT5:c.1065A>C disease not phenotype-associated HIFD_KRT5:c.1582A>G commonName c.1582A>G HIFD_KRT5:c.1582A>G protEffect p.Ser528Asp HIFD_KRT5:c.1582A>G disease not phenotype-associated HIFD_KRT5:c.1627G>A commonName c.1627G>A HIFD_KRT5:c.1627G>A protEffect p.Gly543Ser HIFD_KRT5:c.1627G>A disease not phenotype-associated HIFD_KRT5:c.1692C>A commonName c.1692C>A HIFD_KRT5:c.1692C>A protEffect p.= HIFD_KRT5:c.1692C>A disease not phenotype-associated HIFD_KRT5:c.1755G>A commonName c.1755G>A HIFD_KRT5:c.1755G>A protEffect p.= HIFD_KRT5:c.1755G>A disease not phenotype-associated HIFD_KRT5:c.555+9C>T commonName c.555+9C>T HIFD_KRT5:c.555+9C>T protEffect p.= HIFD_KRT5:c.555+9C>T disease not phenotype-associated HIFD_KRT5:c.594C>A commonName c.594C>A HIFD_KRT5:c.594C>A protEffect p.= HIFD_KRT5:c.594C>A disease not phenotype-associated HIFD_KRT5:c.548C>T commonName c.548C>T HIFD_KRT5:c.548C>T protEffect p.Thr183Ile HIFD_KRT5:c.548C>T disease not phenotype-associated HIFD_KRT5:c.556-1G>T commonName c.556-1G>T HIFD_KRT5:c.556-1G>T protEffect p.? HIFD_KRT5:c.556-1G>T disease not phenotype-associated HIFD_KRT75:c.481G>A commonName c.481G>A HIFD_KRT75:c.481G>A protEffect p.Ala161Thr HIFD_KRT75:c.481G>A phenoCommon PFB HIFD_KRT75:c.481G>A disease not phenotype-associated HIFD_KRT8:c.681A>G commonName c.681A>G HIFD_KRT8:c.681A>G protEffect p.= HIFD_KRT8:c.681A>G disease not phenotype-associated HIFD_KRT8:c.216G>A commonName c.216G>A HIFD_KRT8:c.216G>A protEffect p.= HIFD_KRT8:c.216G>A disease not phenotype-associated HIFD_KRT8:c.955G>T commonName c.955G>T HIFD_KRT8:c.955G>T protEffect p.Ala319Ser HIFD_KRT8:c.955G>T disease not phenotype-associated HIFD_KRT8:c.*8C>T commonName c.*8C>T HIFD_KRT8:c.*8C>T protEffect p.= HIFD_KRT8:c.*8C>T disease not phenotype-associated HIFD_KRT8:c.*31C>T commonName c.*31C>T HIFD_KRT8:c.*31C>T protEffect p.= HIFD_KRT8:c.*31C>T disease not phenotype-associated HIFD_KRT8:c.*38G>A commonName c.*38G>A HIFD_KRT8:c.*38G>A protEffect p.= HIFD_KRT8:c.*38G>A disease not phenotype-associated HIFD_KRT8:c.1261+10delC commonName c.1261+10delC HIFD_KRT8:c.1261+10delC protEffect p.= HIFD_KRT8:c.1261+10delC disease not phenotype-associated HIFD_KRT8:c.1261+20G>A commonName c.1261+20G>A HIFD_KRT8:c.1261+20G>A protEffect p.= HIFD_KRT8:c.1261+20G>A disease not phenotype-associated HIFD_KRT81:c.1053T>C commonName c.1053T>C HIFD_KRT81:c.1053T>C protEffect p.= HIFD_KRT81:c.1053T>C disease not phenotype-associated HIFD_KRT81:c.1077A>G commonName c.1077A>G HIFD_KRT81:c.1077A>G protEffect p.= HIFD_KRT81:c.1077A>G disease not phenotype-associated HIFD_KRT81:c.1027-13_1027-14insT commonName c.1027-13_1027-14insT HIFD_KRT81:c.1027-13_1027-14insT protEffect p.= HIFD_KRT81:c.1027-13_1027-14insT disease not phenotype-associated HIFD_KRT81:c.735+4C>T commonName c.735+4C>T HIFD_KRT81:c.735+4C>T protEffect p.= HIFD_KRT81:c.735+4C>T disease not phenotype-associated HIFD_KRT83:c.445T>C commonName c.445T>C HIFD_KRT83:c.445T>C protEffect p.Cys149Arg HIFD_KRT83:c.445T>C disease not phenotype-associated HIFD_KRT83:c.558C>T commonName c.558C>T HIFD_KRT83:c.558C>T protEffect p.= HIFD_KRT83:c.558C>T disease not phenotype-associated HIFD_KRT86:c.197G>A commonName c.197G>A HIFD_KRT86:c.197G>A protEffect p.Arg66His HIFD_KRT86:c.197G>A disease not phenotype-associated HIFD_KRT86:c.348G>A commonName c.348G>A HIFD_KRT86:c.348G>A protEffect p.= HIFD_KRT86:c.348G>A disease not phenotype-associated HIFD_KRT86:c.416A>C commonName c.416A>C HIFD_KRT86:c.416A>C protEffect p.Gln139Pro HIFD_KRT86:c.416A>C disease not phenotype-associated HIFD_GFAP:c.-518T>A commonName c.-518T>A HIFD_GFAP:c.-518T>A protEffect p.= HIFD_GFAP:c.-518T>A disease not phenotype-associated HIFD_GFAP:c.-264C>A commonName c.-264C>A HIFD_GFAP:c.-264C>A protEffect p.= HIFD_GFAP:c.-264C>A disease not phenotype-associated HIFD_GFAP:c.858G>A commonName c.858G>A HIFD_GFAP:c.858G>A protEffect p.= HIFD_GFAP:c.858G>A disease not phenotype-associated HIFD_GFAP:c.883G>A commonName c.883G>A HIFD_GFAP:c.883G>A protEffect p.Asp295Asn HIFD_GFAP:c.883G>A disease not phenotype-associated HIFD_GFAP:c.140C>T commonName c.140C>T HIFD_GFAP:c.140C>T protEffect p.Pro47Leu HIFD_GFAP:c.140C>T disease not phenotype-associated HIFD_GFAP:c.619-12C>T commonName c.619-12C>T HIFD_GFAP:c.619-12C>T protEffect p.? HIFD_GFAP:c.619-12C>T disease not phenotype-associated HIFD_GFAP:c.523-9C>G commonName c.523-9C>G HIFD_GFAP:c.523-9C>G protEffect p.? HIFD_GFAP:c.523-9C>G disease not phenotype-associated HIFD_GFAP:c.1128-66C>G commonName c.1128-66C>G HIFD_GFAP:c.1128-66C>G protEffect p.= HIFD_GFAP:c.1128-66C>G disease not phenotype-associated HIFD_GFAP:c.96T>C commonName c.96T>C HIFD_GFAP:c.96T>C protEffect p.= HIFD_GFAP:c.96T>C disease not phenotype-associated HIFD_GFAP:c.907-100A>C commonName c.907-100A>C HIFD_GFAP:c.907-100A>C protEffect p.= HIFD_GFAP:c.907-100A>C disease not phenotype-associated HIFD_GFAP:c.1258-86C>T commonName c.1258-86C>T HIFD_GFAP:c.1258-86C>T protEffect p.= HIFD_GFAP:c.1258-86C>T disease not phenotype-associated HIFD_GFAP:c.*28C>G commonName c.*28C>G HIFD_GFAP:c.*28C>G protEffect p.= HIFD_GFAP:c.*28C>G disease not phenotype-associated HIFD_GFAP:c.*33C>G commonName c.*33C>G HIFD_GFAP:c.*33C>G protEffect p.= HIFD_GFAP:c.*33C>G disease not phenotype-associated HIFD_GFAP:c.619-96G>T commonName c.619-96G>T HIFD_GFAP:c.619-96G>T protEffect p.= HIFD_GFAP:c.619-96G>T disease not phenotype-associated HIFD_GFAP:c.781-826G>A commonName c.781-826G>A HIFD_GFAP:c.781-826G>A protEffect p.= HIFD_GFAP:c.781-826G>A disease not phenotype-associated HIFD_GFAP:c.1128-151C>T commonName c.1128-151C>T HIFD_GFAP:c.1128-151C>T protEffect p.= HIFD_GFAP:c.1128-151C>T disease not phenotype-associated HIFD_GFAP:c.1171+471C>T commonName c.1171+471C>T HIFD_GFAP:c.1171+471C>T protEffect p.= HIFD_GFAP:c.1171+471C>T disease not phenotype-associated HIFD_GFAP:c.1171+501C>A commonName c.1171+501C>A HIFD_GFAP:c.1171+501C>A protEffect p.= HIFD_GFAP:c.1171+501C>A disease not phenotype-associated HIFD_GFAP:c.1172-306A>G commonName c.1172-306A>G HIFD_GFAP:c.1172-306A>G protEffect p.= HIFD_GFAP:c.1172-306A>G disease not phenotype-associated HIFD_GFAP:c.523-76G>C commonName c.523-76G>C HIFD_GFAP:c.523-76G>C protEffect p.= HIFD_GFAP:c.523-76G>C disease not phenotype-associated HIFD_GFAP:c.906+81A>G commonName c.906+81A>G HIFD_GFAP:c.906+81A>G protEffect p.= HIFD_GFAP:c.906+81A>G disease not phenotype-associated HIFD_GFAP:c.*32C>G commonName c.*32C>G HIFD_GFAP:c.*32C>G protEffect p.= HIFD_GFAP:c.*32C>G disease not phenotype-associated HIFD_PRPH:c.26G>A commonName c.26G>A HIFD_PRPH:c.26G>A protEffect p.Arg9Gln HIFD_PRPH:c.26G>A disease not phenotype-associated HIFD_PRPH:c.63C>T commonName c.63C>T HIFD_PRPH:c.63C>T protEffect p.= HIFD_PRPH:c.63C>T disease not phenotype-associated HIFD_PRPH:c.829G>A commonName c.829G>A HIFD_PRPH:c.829G>A protEffect p.Ala276Thr HIFD_PRPH:c.829G>A disease not phenotype-associated HIFD_PRPH:c.1083C>G commonName c.1083C>G HIFD_PRPH:c.1083C>G protEffect p.= HIFD_PRPH:c.1083C>G disease not phenotype-associated HIFD_PRPH:c.1108A>G commonName c.1108A>G HIFD_PRPH:c.1108A>G protEffect p.= HIFD_PRPH:c.1108A>G disease not phenotype-associated HIFD_PRPH:c.-23G>C commonName c.-23G>C HIFD_PRPH:c.-23G>C protEffect p.= HIFD_PRPH:c.-23G>C disease not phenotype-associated HIFD_PRPH:c.545+69G>C commonName c.545+69G>C HIFD_PRPH:c.545+69G>C protEffect p.= HIFD_PRPH:c.545+69G>C disease not phenotype-associated HIFD_PRPH:c.607-77A>C commonName c.607-77A>C HIFD_PRPH:c.607-77A>C protEffect p.= HIFD_PRPH:c.607-77A>C disease not phenotype-associated HIFD_PRPH:c.1217+27C>A commonName c.1217+27C>A HIFD_PRPH:c.1217+27C>A protEffect p.= HIFD_PRPH:c.1217+27C>A disease not phenotype-associated HIFD_PRPH:c.1217+43C>A commonName c.1217+43C>A HIFD_PRPH:c.1217+43C>A protEffect p.= HIFD_PRPH:c.1217+43C>A disease not phenotype-associated HIFD_PRPH:c.1267+58T>C commonName c.1267+58T>C HIFD_PRPH:c.1267+58T>C protEffect p.= HIFD_PRPH:c.1267+58T>C disease not phenotype-associated HIFD_PRPH:c.1348-36_1348-35insA commonName c.1348-36_1348-35insA HIFD_PRPH:c.1348-36_1348-35insA protEffect p.= HIFD_PRPH:c.1348-36_1348-35insA disease not phenotype-associated HIFD_PRPH:c.702+27T>C commonName c.702+27T>C HIFD_PRPH:c.702+27T>C protEffect p.= HIFD_PRPH:c.702+27T>C disease not phenotype-associated HIFD_PRPH:c.606+52T>G commonName c.606+52T>G HIFD_PRPH:c.606+52T>G protEffect p.= HIFD_PRPH:c.606+52T>G disease not phenotype-associated HIFD_PRPH:c.1107A>G commonName c.1107A>G HIFD_PRPH:c.1107A>G protEffect p.= HIFD_PRPH:c.1107A>G disease not phenotype-associated HIFD_PRPH:c.*82C>A commonName c.*82C>A HIFD_PRPH:c.*82C>A protEffect p.= HIFD_PRPH:c.*82C>A disease not phenotype-associated HIFD_NEF3:c.387T>G commonName c.387T>G HIFD_NEF3:c.387T>G protEffect p.Ile129Met HIFD_NEF3:c.387T>G disease not phenotype-associated HIFD_NEF3:c.1104T>C commonName c.1104T>C HIFD_NEF3:c.1104T>C protEffect p.= HIFD_NEF3:c.1104T>C disease not phenotype-associated HIFD_NEF3:c.1420A>G commonName c.1420A>G HIFD_NEF3:c.1420A>G protEffect p.Thr474Ala HIFD_NEF3:c.1420A>G disease not phenotype-associated HIFD_NEF3:c.447G>C commonName c.447G>C HIFD_NEF3:c.447G>C protEffect p.= HIFD_NEF3:c.447G>C disease not phenotype-associated HIFD_NEF3:c.1423G>A phenoCommon PD HIFD_NEF3:c.2089G>C phenoCommon PD HIFD_NEF3:c.2174C>A commonName c.2174C>A HIFD_NEF3:c.2174C>A protEffect p.Pro725Gln HIFD_NEF3:c.2174C>A phenoCommon PD HIFD_NEF3:c.2174C>A disease not phenotype-associated HIFD_NEF3:c.2485_2487delGTT commonName c.2485_2487delGTT HIFD_NEF3:c.2485_2487delGTT protEffect p.Val829del HIFD_NEF3:c.2485_2487delGTT phenoCommon PD HIFD_NEF3:c.2485_2487delGTT disease not phenotype-associated HIFD_NEFH:c.1844C>T commonName c.1844C>T HIFD_NEFH:c.1844C>T protEffect p.Pro615Leu HIFD_NEFH:c.1844C>T disease not phenotype-associated HIFD_NEFH:c.472C>T commonName c.472C>T HIFD_NEFH:c.472C>T protEffect p.= HIFD_NEFH:c.472C>T disease not phenotype-associated HIFD_NEFH:c.1203T>C commonName c.1203T>C HIFD_NEFH:c.1203T>C protEffect p.= HIFD_NEFH:c.1203T>C disease not phenotype-associated HIFD_NEFH:c.2414C>A commonName c.2414C>A HIFD_NEFH:c.2414C>A protEffect p.Ala805Glu HIFD_NEFH:c.2414C>A disease not phenotype-associated HIFD_NEFH:c.1375G>A commonName c.1375G>A HIFD_NEFH:c.1375G>A protEffect p.Glu459Lys HIFD_NEFH:c.1375G>A disease not phenotype-associated HIFD_NEFH:c.1387G>A commonName c.1387G>A HIFD_NEFH:c.1387G>A protEffect p.Glu463Lys HIFD_NEFH:c.1387G>A phenoCommon NIFID HIFD_NEFH:c.1387G>A disease not phenotype-associated HIFD_NEFH:c.1844C>T phenoCommon NIFID HIFD_NEFH:c.2232C>T commonName c.2232C>T HIFD_NEFH:c.2232C>T protEffect p.= HIFD_NEFH:c.2232C>T phenoCommon NIFID HIFD_NEFH:c.2232C>T disease not phenotype-associated HIFD_NEFH:c.2234A>T commonName c.2234A>T HIFD_NEFH:c.2234A>T protEffect p.Lys745Met HIFD_NEFH:c.2234A>T phenoCommon NIFID HIFD_NEFH:c.2234A>T disease not phenotype-associated HIFD_NEFH:c.2414A>C commonName c.2414A>C HIFD_NEFH:c.2414A>C protEffect p.Glu805Ala HIFD_NEFH:c.2414A>C phenoCommon NIFID HIFD_NEFH:c.2414A>C disease not phenotype-associated HIFD_NEFH:c.2784A>G commonName c.2784A>G HIFD_NEFH:c.2784A>G protEffect p.= HIFD_NEFH:c.2784A>G phenoCommon NIFID HIFD_NEFH:c.2784A>G disease not phenotype-associated HIFD_NEFL:c.667C>T commonName c.667C>T HIFD_NEFL:c.667C>T protEffect p.= HIFD_NEFL:c.667C>T disease not phenotype-associated HIFD_NEFL:c.1492G>A commonName c.1492G>A HIFD_NEFL:c.1492G>A protEffect p.Ala498Thr HIFD_NEFL:c.1492G>A disease not phenotype-associated HIFD_NEFL:c.227T>C commonName c.227T>C HIFD_NEFL:c.227T>C protEffect p.Val76Ala HIFD_NEFL:c.227T>C disease not phenotype-associated HIFD_NEFL:c.279G>A commonName c.279G>A HIFD_NEFL:c.279G>A protEffect p.= HIFD_NEFL:c.279G>A disease not phenotype-associated HIFD_NEFL:c.-44_-42delGGCinsATG commonName c.-44_-42delGGCinsATG HIFD_NEFL:c.-44_-42delGGCinsATG protEffect p.= HIFD_NEFL:c.-44_-42delGGCinsATG disease not phenotype-associated HIFD_NEFL:c.189G>A commonName c.189G>A HIFD_NEFL:c.189G>A protEffect p.= HIFD_NEFL:c.189G>A disease not phenotype-associated HIFD_NEFL:c.123C>T commonName c.123C>T HIFD_NEFL:c.123C>T protEffect p.= HIFD_NEFL:c.123C>T disease not phenotype-associated HIFD_NEFL:c.1212C>T commonName c.1212C>T HIFD_NEFL:c.1212C>T protEffect p.= HIFD_NEFL:c.1212C>T disease not phenotype-associated HIFD_NEFL:c.1458C>T commonName c.1458C>T HIFD_NEFL:c.1458C>T protEffect p.= HIFD_NEFL:c.1458C>T disease not phenotype-associated HIFD_NEFL:c.720C>T commonName c.720C>T HIFD_NEFL:c.720C>T protEffect p.= HIFD_NEFL:c.720C>T disease not phenotype-associated HIFD_NEFL:c.423G>A commonName c.423G>A HIFD_NEFL:c.423G>A protEffect p.= HIFD_NEFL:c.423G>A disease not phenotype-associated HIFD_NEFL:c.1045-23_1045-22insT commonName c.1045-23_1045-22insT HIFD_NEFL:c.1045-23_1045-22insT protEffect p.? HIFD_NEFL:c.1045-23_1045-22insT disease not phenotype-associated HIFD_NEFL:c.45G>A commonName c.45G>A HIFD_NEFL:c.45G>A protEffect p.= HIFD_NEFL:c.45G>A disease not phenotype-associated HIFD_NEFL:c.969G>T commonName c.969G>T HIFD_NEFL:c.969G>T protEffect p.= HIFD_NEFL:c.969G>T disease not phenotype-associated HIFD_NEFL:c.1560C>A commonName c.1560C>A HIFD_NEFL:c.1560C>A protEffect p.= HIFD_NEFL:c.1560C>A disease not phenotype-associated HIFD_NEFL:c.-48_-47delTC commonName c.-48_-47delTC HIFD_NEFL:c.-48_-47delTC protEffect p.= HIFD_NEFL:c.-48_-47delTC disease not phenotype-associated HIFD_NEFL:c.1590T>G commonName c.1590T>G HIFD_NEFL:c.1590T>G protEffect p.= HIFD_NEFL:c.1590T>G disease not phenotype-associated HIFD_NEFL:c.1329C>A commonName c.1329C>A HIFD_NEFL:c.1329C>A protEffect p.= HIFD_NEFL:c.1329C>A disease not phenotype-associated HIFD_NEFL:c.227T>A commonName c.227T>A HIFD_NEFL:c.227T>A protEffect p.Val76Ala HIFD_NEFL:c.227T>A disease not phenotype-associated HIFD_LMNA:c.51C>T commonName c.51C>T HIFD_LMNA:c.51C>T protEffect p.= HIFD_LMNA:c.51C>T disease not phenotype-associated HIFD_LMNA:c.861T>C commonName c.861T>C HIFD_LMNA:c.861T>C protEffect p.= HIFD_LMNA:c.861T>C disease not phenotype-associated HIFD_LMNA:c.1338T>C commonName c.1338T>C HIFD_LMNA:c.1338T>C protEffect p.= HIFD_LMNA:c.1338T>C disease not phenotype-associated HIFD_LMNA:c.810+13G>T commonName c.810+13G>T HIFD_LMNA:c.810+13G>T protEffect p.? HIFD_LMNA:c.810+13G>T disease not phenotype-associated HIFD_LMNA:c.1489-41C>T commonName c.1489-41C>T HIFD_LMNA:c.1489-41C>T protEffect p.? HIFD_LMNA:c.1489-41C>T disease not phenotype-associated HIFD_LMNA:c.1609-5A>G commonName c.1609-5A>G HIFD_LMNA:c.1609-5A>G protEffect p.? HIFD_LMNA:c.1609-5A>G disease not phenotype-associated HIFD_LMNA:c.1908C>T commonName c.1908C>T HIFD_LMNA:c.1908C>T protEffect p.= HIFD_LMNA:c.1908C>T disease not phenotype-associated HIFD_LMNA:c.1157+16G>A commonName c.1157+16G>A HIFD_LMNA:c.1157+16G>A protEffect p.? HIFD_LMNA:c.1157+16G>A phenoCommon MADA HIFD_LMNA:c.1157+16G>A disease not phenotype-associated HIFD_LMNA:c.1028G>A commonName c.1028G>A HIFD_LMNA:c.1028G>A protEffect p.Arg343Gln HIFD_LMNA:c.1028G>A disease not phenotype-associated HIFD_LMNA:c.723G>A commonName c.723G>A HIFD_LMNA:c.723G>A protEffect p.= HIFD_LMNA:c.723G>A disease not phenotype-associated HIFD_LMNA:c.810+61C>T commonName c.810+61C>T HIFD_LMNA:c.810+61C>T protEffect p.? HIFD_LMNA:c.810+61C>T disease not phenotype-associated HIFD_LMNA:c.1489-41C>T phenoCommon MADA HIFD_LMNA:c.1098G>A commonName c.1098G>A HIFD_LMNA:c.1098G>A protEffect p.= HIFD_LMNA:c.1098G>A disease not phenotype-associated HIFD_LMNA:c.1299C>T commonName c.1299C>T HIFD_LMNA:c.1299C>T protEffect p.= HIFD_LMNA:c.1299C>T disease not phenotype-associated HIFD_LMNA:c.612G>A commonName c.612G>A HIFD_LMNA:c.612G>A protEffect p.= HIFD_LMNA:c.612G>A disease not phenotype-associated HIFD_LMNA:c.1338T>C phenoCommon WRN HIFD_LMNA:c.*79G>C commonName c.*79G>C HIFD_LMNA:c.*79G>C protEffect p.= HIFD_LMNA:c.*79G>C disease not phenotype-associated HIFD_LMNA:c.937-7C>G commonName c.937-7C>G HIFD_LMNA:c.937-7C>G protEffect p.? HIFD_LMNA:c.937-7C>G disease not phenotype-associated HIFD_LMNA:c.357-20C>T commonName c.357-20C>T HIFD_LMNA:c.357-20C>T protEffect p.? HIFD_LMNA:c.357-20C>T disease not phenotype-associated HIFD_LMNA:c.811-13T>A commonName c.811-13T>A HIFD_LMNA:c.811-13T>A protEffect p.? HIFD_LMNA:c.811-13T>A disease not phenotype-associated HIFD_LMNA:c.1968+26A>G commonName c.1968+26A>G HIFD_LMNA:c.1968+26A>G protEffect p.? HIFD_LMNA:c.1968+26A>G disease not phenotype-associated HIFD_LMNA:c.*27G>A commonName c.*27G>A HIFD_LMNA:c.*27G>A protEffect p.? HIFD_LMNA:c.*27G>A disease not phenotype-associated HIFD_LMNA:c.1381-8C>G commonName c.1381-8C>G HIFD_LMNA:c.1381-8C>G protEffect p.? HIFD_LMNA:c.1381-8C>G disease not phenotype-associated HIFD_LMNA:c.896T>C commonName c.896T>C HIFD_LMNA:c.896T>C protEffect p.Ile299Thr HIFD_LMNA:c.896T>C disease not phenotype-associated HIFD_LMNA:c.640-10A>C commonName c.640-10A>C HIFD_LMNA:c.640-10A>C protEffect p.? HIFD_LMNA:c.640-10A>C disease not phenotype-associated HIFD_LMNA:c.811-10T>A commonName c.811-10T>A HIFD_LMNA:c.811-10T>A protEffect p.? HIFD_LMNA:c.811-10T>A disease not phenotype-associated HIFD_LMNA:c.1158-38G>A commonName c.1158-38G>A HIFD_LMNA:c.1158-38G>A protEffect p.? HIFD_LMNA:c.1158-38G>A disease not phenotype-associated HIFD_LMNB1:c.414T>C commonName c.414T>C HIFD_LMNB1:c.414T>C protEffect p.= HIFD_LMNB1:c.414T>C disease not phenotype-associated HIFD_LMNB1:c.852T>C commonName c.852T>C HIFD_LMNB1:c.852T>C protEffect p.= HIFD_LMNB1:c.852T>C disease not phenotype-associated HIFD_LMNB1:c.1502C>T commonName c.1502C>T HIFD_LMNB1:c.1502C>T protEffect p.Ala501Val HIFD_LMNB1:c.1502C>T disease not phenotype-associated HIFD_LMNB1:c.*18C>T commonName c.*18C>T HIFD_LMNB1:c.*18C>T protEffect p.= HIFD_LMNB1:c.*18C>T disease not phenotype-associated HIFD_LMNB1:c.*43C>T commonName c.*43C>T HIFD_LMNB1:c.*43C>T protEffect p.= HIFD_LMNB1:c.*43C>T disease not phenotype-associated HIFD_LMNB2:c.82G>A commonName c.82G>A HIFD_LMNB2:c.82G>A protEffect p.= HIFD_LMNB2:c.82G>A disease not phenotype-associated TP53_g.12512G>A commonName G>A TP53_g.12512G>A protEffect p.Arg175His TP53_g.12416T>C commonName T>C TP53_g.12416T>C protEffect p.Val143Ala TP53_g.12382A>C commonName A>C TP53_g.12382A>C protEffect p.Lys132Gln TP53_g.13833G>A commonName G>A TP53_g.13833G>A protEffect p.Glu285Lys TP53_g.13384G>C commonName G>C TP53_g.13384G>C protEffect p.Arg249Ser TP53_g.13819G>A commonName G>A TP53_g.13819G>A protEffect p.Arg280Lys TP53_g.12457G>T commonName G>T TP53_g.12457G>T protEffect p.Val157Phe TP53_g.13384G>T commonName G>T TP53_g.13384G>T protEffect p.Arg249Ser TP53_g.13836_13843del commonName del8 TP53_g.13798G>A commonName G>A TP53_g.13798G>A protEffect p.Arg273His TP53_g.12443C>T commonName C>T TP53_g.12443C>T protEffect p.Pro152Leu TP53_g.12515G>T commonName G>T TP53_g.12515G>T protEffect p.Cys176Phe TP53_g.12451A>G commonName A>G TP53_g.12451A>G protEffect p.Thr155Ala TP53_g.13359C>T commonName C>T TP53_g.13359C>T protEffect p.Ser241Phe TP53_g.13380G>A commonName G>A TP53_g.13380G>A protEffect p.Arg248Gln TP53_g.12439del commonName del1 TP53_g.12523C>A commonName C>A TP53_g.12523C>A protEffect p.His179Asn TP53_g.13382A>G commonName A>G TP53_g.13382A>G protEffect p.Arg249Gly TP53_g.12650T>G commonName T>G TP53_g.12650T>G protEffect p.Leu194Arg TP53_g.13373A>G commonName A>G TP53_g.13373A>G protEffect p.Met246Val TP53_g.13826G>A commonName G>A TP53_g.13826G>A protEffect p.Arg282Arg TP53_g.13827del commonName del1 TP53_g.13794G>A commonName G>A TP53_g.13794G>A protEffect p.Val272Met TP53_g.12655C>T commonName C>T TP53_g.12655C>T protEffect p.Arg196STOP TP53_g.12727T>C commonName T>C TP53_g.12727T>C protEffect p.Tyr220His TP53_g.12444G>A commonName G>A TP53_g.12444G>A protEffect p.Pro152Pro TP53_g.13820A>T commonName A>T TP53_g.13820A>T protEffect p.Arg280Ser TP53_g.13810G>A commonName G>A TP53_g.13810G>A protEffect p.Cys277Tyr TP53_g.12523C>T commonName C>T TP53_g.12523C>T protEffect p.His179Tyr TP53_g.12410G>A commonName G>A TP53_g.12410G>A protEffect p.Cys141Tyr TP53_g.13353A>G commonName A>G TP53_g.13353A>G protEffect p.Asn239Ser TP53_g.13379C>T commonName C>T TP53_g.13379C>T protEffect p.Arg248Trp TP53_g.12384_12385delinsCT commonName GA>CT TP53_g.12384_12385delinsCT protEffect K132N;M133L] TP53_g.13822A>G commonName A>G TP53_g.13822A>G protEffect p.Asp281Gly TP53_g.13797C>T commonName C>T TP53_g.13797C>T protEffect p.Arg273Cys TP53_g.12715G>A commonName G>A TP53_g.12715G>A protEffect p.Val216Met TP53_g.12390T>A commonName T>A TP53_g.12390T>A protEffect p.Phe134Leu TP53_g.13997C>T commonName C>T TP53_g.13997C>T protEffect p.Pro309Ser TP53_g.13857del commonName del1 TP53_g.12649C>T commonName C>T TP53_g.12649C>T protEffect p.Leu194Phe TP53_g.12490_12520del commonName del31 TP53_g.12511C>A commonName C>A TP53_g.12511C>A protEffect p.Arg175Ser TP53_g.13367G>A commonName G>A TP53_g.13367G>A protEffect p.Gly244Ser TP53_g.11559C>T commonName C>T TP53_g.11559C>T protEffect p.Arg110Cys TP53_g.17950del commonName del1 TP53_g.12401C>T commonName C>T TP53_g.12401C>T protEffect p.Ala138Val TP53_g.13824C>T commonName C>T TP53_g.13824C>T protEffect p.Arg282Trp TP53_g.12374C>A commonName C>A TP53_g.12374C>A protEffect p.Ala129Asp TP53_g.12462C>T commonName C>T TP53_g.12462C>T protEffect p.Arg158Arg TP53_g.13791G>A commonName G>A TP53_g.13791G>A protEffect p.Glu271Lys TP53_g.13352A>G commonName A>G TP53_g.13352A>G protEffect p.Asn239Asp TP53_g.12412del commonName del1 TP53_g.12511C>G commonName C>G TP53_g.12511C>G protEffect p.Arg175Gly TP53_g.11490_11497del commonName del8 TP53_g.13324T>A commonName T>A TP53_g.13324T>A protEffect p.Cys229STOP TP53_g.13348G>A commonName G>A TP53_g.13348G>A protEffect p.Met237Ile TP53_g.12647A>G commonName A>G TP53_g.12647A>G protEffect p.His193Arg TP53_g.13810G>T commonName G>T TP53_g.13810G>T protEffect p.Cys277Phe TP53_g.12449G>T commonName G>T TP53_g.12449G>T protEffect p.Gly154Val TP53_g.12505G>T commonName G>T TP53_g.12505G>T protEffect p.Val173Leu TP53_g.12686del commonName del1 TP53_g.12706C>T commonName C>T TP53_g.12706C>T protEffect p.Arg213STOP TP53_g.12515G>A commonName G>A TP53_g.12515G>A protEffect p.Cys176Tyr TP53_g.30017_30018ins25 commonName ins25 TP53_g.12683A>G commonName A>G TP53_g.12683A>G protEffect p.Tyr205Cys TP53_g.13823C>G commonName C>G TP53_g.13823C>G protEffect p.Asp281Glu TP53_g.12518C>G commonName C>G TP53_g.12518C>G protEffect p.Pro177Arg TP53_g.13332T>G commonName T>G TP53_g.13332T>G protEffect p.Ile232Ser TP53_g.12443_12444ins1 commonName ins1 TP53_g.13803_13804ins1 commonName ins1 TP53_g.12506T>G commonName T>G TP53_g.12506T>G protEffect p.Val173Gly TP53_g.12386T>A commonName T>A TP53_g.12386T>A protEffect p.Met133Lys TP53_g.13409G>A commonName G>A TP53_g.13409G>A protEffect p.Glu258Lys TP53_g.12716T>A commonName T>A TP53_g.12716T>A protEffect p.Val216Glu TP53_g.13344A>G commonName A>G TP53_g.13344A>G protEffect p.Tyr236Cys TP53_g.12419A>C commonName A>C TP53_g.12419A>C protEffect p.Gln144Pro TP53_g.13338A>G commonName A>G TP53_g.13338A>G protEffect p.Tyr234Cys TP53_g.30015_30029del commonName del15 TP53_g.13350G>A commonName G>A TP53_g.13350G>A protEffect p.Cys238Tyr TP53_g.12475T>C commonName T>C TP53_g.12475T>C protEffect p.Tyr163His TP53_g.13839G>T commonName G>T TP53_g.13839G>T protEffect p.Glu287STOP TP53_g.13397_13398delinsGA commonName AT>GA TP53_g.13397_13398delinsGA protEffect p.Ile254Asp TP53_g.14045_14058del commonName del14 TP53_g.12461G>A commonName G>A TP53_g.12461G>A protEffect p.Arg158His TP53_g.12707G>A commonName G>A TP53_g.12707G>A protEffect p.Arg213Gln TP53_g.13337T>C commonName T>C TP53_g.13337T>C protEffect p.Tyr234His TP53_g.13403A>G commonName A>G TP53_g.13403A>G protEffect p.Thr256Ala TP53_g.13413A>G commonName A>G TP53_g.13413A>G protEffect p.Asp259Gly TP53_g.13415T>G commonName T>G TP53_g.13415T>G protEffect p.Ser260Ala TP53_g.13347T>G commonName T>G TP53_g.13347T>G protEffect p.Met237Arg TP53_g.13367G>T commonName G>T TP53_g.13367G>T protEffect p.Gly244Cys TP53_g.13359C>G commonName C>G TP53_g.13359C>G protEffect p.Ser241Cys TP53_g.13371G>C commonName G>C TP53_g.13371G>C protEffect p.Gly245Ala TP53_g.13872G>T commonName G>T TP53_g.13872G>T protEffect p.Glu298STOP TP53_g.12536C>G commonName C>G TP53_g.12536C>G protEffect p.Ser183STOP TP53_g.13343_13366del commonName del24 TP53_g.13827C>T commonName C>T TP53_g.13827C>T protEffect p.Arg283Cys TP53_g.12728A>G commonName A>G TP53_g.12728A>G protEffect p.Tyr220Cys TP53_g.13836G>A commonName G>A TP53_g.13836G>A protEffect p.Glu286Lys TP53_g.12392G>A commonName G>A TP53_g.12392G>A protEffect p.Cys135Tyr TP53_g.12700A>G commonName A>G TP53_g.12700A>G protEffect p.Thr211Ala TP53_g.13361T>C commonName T>C TP53_g.13361T>C protEffect p.Cys242Arg TP53_g.12439C>T commonName C>T TP53_g.12439C>T protEffect p.Pro151Ser TP53_g.13338A>C commonName A>C TP53_g.13338A>C protEffect p.Tyr234Ser TP53_g.12505G>C commonName G>C TP53_g.12505G>C protEffect p.Val173Leu TP53_g.12384G>C commonName G>C TP53_g.12384G>C protEffect p.Lys132Asn TP53_g.12405G>C commonName G>C TP53_g.12405G>C protEffect p.Lys139Asn TP53_g.12400_12417del commonName del18 TP53_g.13348G>T commonName G>T TP53_g.13348G>T protEffect p.Met237Ile TP53_g.12455G>C commonName G>C TP53_g.12455G>C protEffect p.Arg156Pro TP53_g.13764_13787del commonName del24 TP53_g.13798G>T commonName G>T TP53_g.13798G>T protEffect p.Arg273Leu TP53_g.13377A>T commonName A>T TP53_g.13377A>T protEffect p.Asn247Ile TP53_g.12384G>T commonName G>T TP53_g.12384G>T protEffect p.Lys132Asn TP53_g.13828G>C commonName G>C TP53_g.13828G>C protEffect p.Arg283Pro TP53_g.13777G>T commonName G>T TP53_g.13777G>T protEffect p.Gly266Val TP53_g.13308A>T commonName A>T TP53_g.13798G>C commonName G>C TP53_g.13798G>C protEffect p.Arg273Pro TP53_g.12464C>T commonName C>T TP53_g.12464C>T protEffect p.Ala159Val TP53_g.12525T>G commonName T>G TP53_g.12525T>G protEffect p.His179Gln TP53_g.13375G>C commonName G>C TP53_g.13375G>C protEffect p.Met246Ile TP53_g.13362G>C commonName G>C TP53_g.13362G>C protEffect p.Cys242Ser TP53_g.13371G>T commonName G>T TP53_g.13371G>T protEffect p.Gly245Val TP53_g.13812C>T commonName C>T TP53_g.13812C>T protEffect p.Pro278Ser TP53_g.12643C>T commonName C>T TP53_g.12643C>T protEffect p.Gln192STOP TP53_g.13813C>T commonName C>T TP53_g.13813C>T protEffect p.Pro278Leu TP53_g.12514T>A commonName T>A TP53_g.12514T>A protEffect p.Cys176Ser TP53_g.12422T>A commonName T>A TP53_g.12422T>A protEffect p.Leu145Gln TP53_g.12499G>T commonName G>T TP53_g.12499G>T protEffect p.Glu171STOP TP53_g.12646C>T commonName C>T TP53_g.12646C>T protEffect p.His193Tyr TP53_g.13893A>T commonName A>T TP53_g.13893A>T protEffect p.Lys305STOP TP53_g.12524A>T commonName A>T TP53_g.12524A>T protEffect p.His179Leu TP53_g.12418C>T commonName C>T TP53_g.12418C>T protEffect p.Gln144STOP TP53_g.13789T>G commonName T>G TP53_g.13789T>G protEffect p.Phe270Cys TP53_g.13370G>A commonName G>A TP53_g.13370G>A protEffect p.Gly245Ser TP53_g.13380G>T commonName G>T TP53_g.13380G>T protEffect p.Arg248Leu TP53_g.12469G>A commonName G>A TP53_g.12469G>A protEffect p.Ala161Thr TP53_g.13863_13867del commonName del5 TP53_g.12397_12403del commonName del7 TP53_g.12507G>A commonName G>A TP53_g.12507G>A protEffect p.Val173Val TP53_g.13389T>G commonName T>G TP53_g.13389T>G protEffect p.Ile251Ser TP53_g.13390_13391ins4 commonName ins4 TP53_g.11409C>T commonName C>T TP53_g.11409C>T protEffect p.Pro60Ser TP53_g.11376G>C commonName G>C TP53_g.11376G>C protEffect p.Asp49His TP53_g.11390G>T commonName G>T TP53_g.11390G>T protEffect p.Trp53Cys TP53_g.12680A>G commonName A>G TP53_g.12680A>G protEffect p.Glu204Gly TP53_g.12674G>T commonName G>T TP53_g.12674G>T protEffect p.Arg202Leu TP53_g.13825G>C commonName G>C TP53_g.13825G>C protEffect p.Arg282Pro TP53_g.12487del commonName del1 TP53_g.12683A>T commonName A>T TP53_g.12683A>T protEffect p.Tyr205Phe TP53_g.12415del commonName del1 TP53_g.12715G>T commonName G>T TP53_g.12715G>T protEffect p.Val216Leu TP53_g.13773C>T commonName C>T TP53_g.13773C>T protEffect p.Leu265Leu TP53_g.13383G>T commonName G>T TP53_g.13383G>T protEffect p.Arg249Met TP53_g.12530G>A commonName G>A TP53_g.12530G>A protEffect p.Arg181His TP53_g.13795T>C commonName T>C TP53_g.13795T>C protEffect p.Val272Ala TP53_g.14066G>A commonName G>A TP53_g.13838A>G commonName A>G TP53_g.13838A>G protEffect p.Glu286Glu TP53_g.13349T>A commonName T>A TP53_g.13349T>A protEffect p.Cys238Ser TP53_g.12442_12454del commonName del13 TP53_g.12712A>G commonName A>G TP53_g.12712A>G protEffect p.Ser215Gly TP53_g.13398T>A commonName T>A TP53_g.13398T>A protEffect p.Ile254Asn TP53_g.12659T>G commonName T>G TP53_g.12659T>G protEffect p.Val197Gly TP53_g.13371G>A commonName G>A TP53_g.13371G>A protEffect p.Gly245Asp TP53_g.11606G>A commonName G>A TP53_g.11606G>A protEffect p.Thr125Thr TP53_g.12383A>G commonName A>G TP53_g.12383A>G protEffect p.Lys132Arg TP53_g.13333_13334ins4 commonName ins4 TP53_g.12534C>A commonName C>A TP53_g.12534C>A protEffect p.Cys182STOP TP53_g.12392G>C commonName G>C TP53_g.12392G>C protEffect p.Cys135Ser TP53_g.13801T>A commonName T>A TP53_g.13801T>A protEffect p.Val274Asp TP53_g.13350G>T commonName G>T TP53_g.13350G>T protEffect p.Cys238Phe TP53_g.12715_12716delinsTG commonName GT>TG TP53_g.12715_12716delinsTG protEffect p.Val216Trp TP53_g.12707G>C commonName G>C TP53_g.12707G>C protEffect p.Arg213Pro TP53_g.12724_12727del commonName del4 TP53_g.12538G>T commonName G>T TP53_g.12538G>T protEffect p.Asp184Tyr TP53_g.12364T>A commonName T>A TP53_g.12364T>A protEffect p.Tyr126Asn TP53_g.12529C>T commonName C>T TP53_g.12529C>T protEffect p.Arg181Cys TP53_g.13819G>C commonName G>C TP53_g.13819G>C protEffect p.Arg280Thr TP53_g.13804G>T commonName G>T TP53_g.13804G>T protEffect p.Cys275Phe TP53_g.11560G>T commonName G>T TP53_g.11560G>T protEffect p.Arg110Leu TP53_g.12461G>T commonName G>T TP53_g.12461G>T protEffect p.Arg158Leu TP53_g.12512G>T commonName G>T TP53_g.12512G>T protEffect p.Arg175Leu TP53_g.13319_13340del commonName del22 TP53_g.13385C>T commonName C>T TP53_g.13385C>T protEffect p.Pro250Ser TP53_g.13853_13854ins1 commonName ins1 TP53_g.12438_12439ins4 commonName ins4 TP53_g.17968_17986del commonName del19 TP53_g.12451_12459del commonName del9 TP53_g.13375G>A commonName G>A TP53_g.13375G>A protEffect p.Met246Ile TP53_g.11578C>G commonName C>G TP53_g.11578C>G protEffect p.Ser116Cys TP53_g.13332T>A commonName T>A TP53_g.13332T>A protEffect p.Ile232Asn TP53_g.12380A>T commonName A>T TP53_g.12380A>T protEffect p.Asn131Ile TP53_g.12710A>G commonName A>G TP53_g.12710A>G protEffect p.His214Arg TP53_g.12476A>G commonName A>G TP53_g.12476A>G protEffect p.Tyr163Cys TP53_g.12482A>G commonName A>G TP53_g.12482A>G protEffect p.Gln165Arg TP53_g.16887del commonName del1 TP53_g.11493del commonName del1 TP53_g.12392del commonName del1 TP53_g.12653T>C commonName T>C TP53_g.12653T>C protEffect p.Ile195Thr TP53_g.13815del commonName del1 TP53_g.12514T>C commonName T>C TP53_g.12514T>C protEffect p.Cys176Arg TP53_g.13764G>A commonName G>A TP53_g.13764G>A protEffect p.Gly262Ser TP53_g.16915C>T commonName C>T TP53_g.16915C>T protEffect p.Arg342STOP TP53_g.13308A>C commonName A>C TP53_g.16892G>T commonName G>T TP53_g.16892G>T protEffect p.Gly334Val TP53_g.14066G>T commonName G>T TP53_g.11433G>T commonName G>T TP53_g.11433G>T protEffect p.Glu68STOP TP53_g.12440C>A commonName C>A TP53_g.12440C>A protEffect p.Pro151His TP53_g.12428T>A commonName T>A TP53_g.12428T>A protEffect p.Val147Asp TP53_g.12694A>T commonName A>T TP53_g.12694A>T protEffect p.Arg209STOP TP53_g.13761A>C commonName A>C TP53_g.13824C>G commonName C>G TP53_g.13824C>G protEffect p.Arg282Gly TP53_g.12350_12377del commonName del28 TP53_g.11606G>T commonName G>T TP53_g.11606G>T protEffect p.Thr125Thr TP53_g.13363_13364ins7 commonName ins7 TP53_g.13863_13864del commonName del2 TP53_g.12442_12443del commonName del2 TP53_g.12712A>C commonName A>C TP53_g.12712A>C protEffect p.Ser215Arg TP53_g.12404A>C commonName A>C TP53_g.12404A>C protEffect p.Lys139Thr TP53_g.12505G>A commonName G>A TP53_g.12505G>A protEffect p.Val173Met TP53_g.12647A>C commonName A>C TP53_g.12647A>C protEffect p.His193Pro TP53_g.12706del commonName del1 TP53_g.12376C>G commonName C>G TP53_g.12376C>G protEffect p.Leu130Val TP53_g.14021C>T commonName C>T TP53_g.14021C>T protEffect p.Gln317STOP TP53_g.13370G>T commonName G>T TP53_g.13370G>T protEffect p.Gly245Cys TP53_g.11024G>C commonName G>C TP53_g.11024G>C protEffect p.Asp7His TP53_g.11397G>T commonName G>T TP53_g.11397G>T protEffect p.Glu56STOP TP53_g.13370_13371delinsAA commonName GG>AA TP53_g.13370_13371delinsAA protEffect p.Gly245Asn TP53_g.13835_13836delinsAA commonName GG>AA TP53_g.13835_13836delinsAA protEffect E286K TP53_g.13378_13379delinsTT commonName CC>TT TP53_g.13378_13379delinsTT protEffect R248W TP53_g.12442C>T commonName C>T TP53_g.12442C>T protEffect p.Pro152Ser TP53_g.11543del commonName del1 TP53_g.12665G>T commonName G>T TP53_g.12665G>T protEffect p.Gly199Val TP53_g.13362G>T commonName G>T TP53_g.13362G>T protEffect p.Cys242Phe TP53_g.13332T>C commonName T>C TP53_g.13332T>C protEffect p.Ile232Thr TP53_g.13351_13352ins1 commonName ins1 TP53_g.12741G>C commonName G>C TP53_g.12741G>C protEffect p.Glu224Asp TP53_g.11371C>T commonName C>T TP53_g.11371C>T protEffect p.Pro47Leu TP53_g.12411C>G commonName C>G TP53_g.12411C>G protEffect p.Cys141Trp TP53_g.13780G>C commonName G>C TP53_g.13780G>C protEffect p.Arg267Pro TP53_g.11496del commonName del1 TP53_g.11333_11334ins1 commonName ins1 TP53_g.13900G>T commonName G>T TP53_g.12742G>A commonName G>A TP53_g.13851A>T commonName A>T TP53_g.13851A>T protEffect p.Lys291STOP TP53_g.13363C>G commonName C>G TP53_g.13363C>G protEffect p.Cys242Trp TP53_g.13413A>T commonName A>T TP53_g.13413A>T protEffect p.Asp259Val TP53_g.12426G>A commonName G>A TP53_g.12426G>A protEffect p.Trp146STOP TP53_g.12640del commonName del1 TP53_g.12480G>T commonName G>T TP53_g.12480G>T protEffect p.Lys164Asn TP53_g.12713G>T commonName G>T TP53_g.12713G>T protEffect p.Ser215Ile TP53_g.12718G>T commonName G>T TP53_g.12718G>T protEffect p.Val217Leu TP53_g.11535del commonName del1 TP53_g.12516C>G commonName C>G TP53_g.12516C>G protEffect p.Cys176Trp TP53_g.12480_12481ins9 commonName ins9 TP53_g.13830A>C commonName A>C TP53_g.13830A>C protEffect p.Thr284Pro TP53_g.12628G>T commonName G>T TP53_g.12478del commonName del1 TP53_g.12658G>C commonName G>C TP53_g.12658G>C protEffect p.Val197Leu TP53_g.12470C>A commonName C>A TP53_g.12470C>A protEffect p.Ala161Asp TP53_g.12452C>A commonName C>A TP53_g.12452C>A protEffect p.Thr155Asn TP53_g.12457_12468del commonName del12 TP53_g.12691_12694del commonName del4 TP53_g.12652A>T commonName A>T TP53_g.12652A>T protEffect p.Ile195Phe TP53_g.13821G>C commonName G>C TP53_g.13821G>C protEffect p.Asp281His TP53_g.12667del commonName del1 TP53_g.13381_13382ins1 commonName ins1 TP53_g.12494T>C commonName T>C TP53_g.12494T>C protEffect p.Met169Thr TP53_g.13812C>A commonName C>A TP53_g.13812C>A protEffect p.Pro278Thr TP53_g.12460C>T commonName C>T TP53_g.12460C>T protEffect p.Arg158Cys TP53_g.13804G>A commonName G>A TP53_g.13804G>A protEffect p.Cys275Tyr TP53_g.12728A>C commonName A>C TP53_g.12728A>C protEffect p.Tyr220Ser TP53_g.12661G>A commonName G>A TP53_g.12661G>A protEffect p.Glu198Lys TP53_g.12682T>G commonName T>G TP53_g.12682T>G protEffect p.Tyr205Asp TP53_g.13371_13372delinsTT commonName GC>TT TP53_g.13371_13372delinsTT protEffect p.Gly245Val TP53_g.13407T>C commonName T>C TP53_g.13407T>C protEffect p.Leu257Pro TP53_g.13409_13417del commonName del9 TP53_g.13867A>C commonName A>C TP53_g.13867A>C protEffect p.His296Pro TP53_g.13814_13815ins1 commonName ins1 TP53_g.13389T>A commonName T>A TP53_g.13389T>A protEffect p.Ile251Asn TP53_g.13345C>A commonName C>A TP53_g.13345C>A protEffect p.Tyr236STOP TP53_g.13797C>G commonName C>G TP53_g.13797C>G protEffect p.Arg273Gly TP53_g.13860G>T commonName G>T TP53_g.13860G>T protEffect p.Glu294STOP TP53_g.13811_13812ins1 commonName ins1 TP53_g.13321C>G commonName C>G TP53_g.13321C>G protEffect p.Asp228Glu TP53_g.13340_13353del commonName del14 TP53_g.14057del commonName del1 TP53_g.12508_12525del commonName del18 TP53_g.13803T>C commonName T>C TP53_g.13803T>C protEffect p.Cys275Arg TP53_g.13349T>C commonName T>C TP53_g.13349T>C protEffect p.Cys238Arg TP53_g.13812C>G commonName C>G TP53_g.13812C>G protEffect p.Pro278Ala TP53_g.13825G>T commonName G>T TP53_g.13825G>T protEffect p.Arg282Leu TP53_g.12370C>T commonName C>T TP53_g.12370C>T protEffect p.Pro128Ser TP53_g.12502del commonName del1 TP53_g.12372T>G commonName T>G TP53_g.12372T>G protEffect p.Pro128Pro TP53_g.13347T>A commonName T>A TP53_g.13347T>A protEffect p.Met237Lys TP53_g.12388T>C commonName T>C TP53_g.12388T>C protEffect p.Phe134Leu TP53_g.13788T>A commonName T>A TP53_g.13788T>A protEffect p.Phe270Ile TP53_g.12694_12695del commonName del2 TP53_g.12402C>T commonName C>T TP53_g.12402C>T protEffect p.Ala138Ala TP53_g.13757_13761del commonName del5 TP53_g.12715_12717del commonName del3 TP53_g.12524A>G commonName A>G TP53_g.12524A>G protEffect p.His179Arg TP53_g.11326A>T commonName A>T TP53_g.13385_13386delinsTT commonName CC>TT TP53_g.13385_13386delinsTT protEffect p.Pro250Phe TP53_g.13396_13397ins1 commonName ins1 TP53_g.12548G>A commonName G>A TP53_g.12365A>G commonName A>G TP53_g.12365A>G protEffect p.Tyr126Cys TP53_g.13308A>G commonName A>G TP53_g.13821G>T commonName G>T TP53_g.13821G>T protEffect p.Asp281Tyr TP53_g.12460C>G commonName C>G TP53_g.12460C>G protEffect p.Arg158Gly TP53_g.12491A>G commonName A>G TP53_g.12491A>G protEffect p.His168Arg TP53_g.12469G>T commonName G>T TP53_g.12469G>T protEffect p.Ala161Ser TP53_g.12455G>T commonName G>T TP53_g.12455G>T protEffect p.Arg156Leu TP53_g.11491C>A commonName C>A TP53_g.11491C>A protEffect p.Pro87Gln TP53_g.12504_12505ins1 commonName ins1 TP53_g.12408_12409ins14 commonName ins14 TP53_g.12379_12381del commonName del3 TP53_g.13339C>A commonName C>A TP53_g.13339C>A protEffect p.Tyr234STOP TP53_g.13334_13341del commonName del8 TP53_g.13391_13399del commonName del9 TP53_g.13805T>G commonName T>G TP53_g.13805T>G protEffect p.Cys275Trp TP53_g.12418_12420del commonName del3 TP53_g.12475T>A commonName T>A TP53_g.12475T>A protEffect p.Tyr163Asn TP53_g.12382A>G commonName A>G TP53_g.12382A>G protEffect p.Lys132Glu TP53_g.13385_13392del commonName del8 TP53_g.13372C>T commonName C>T TP53_g.13372C>T protEffect p.Gly245Gly TP53_g.11328_11605del commonName del278 TP53_g.12637del commonName del1 TP53_g.13374T>C commonName T>C TP53_g.13374T>C protEffect p.Met246Thr TP53_g.11582_11583ins2 commonName ins2 TP53_g.12430G>A commonName G>A TP53_g.12430G>A protEffect p.Asp148Asn TP53_g.12459_12460delinsTT commonName CC>TT TP53_g.12459_12460delinsTT protEffect R158C TP53_g.12465C>T commonName C>T TP53_g.12465C>T protEffect p.Ala159Ala TP53_g.11382G>T commonName G>T TP53_g.11382G>T protEffect p.Glu51STOP TP53_g.12654_12655delinsTT commonName CC>TT TP53_g.12654_12655delinsTT protEffect R196X TP53_g.13383del commonName del1 TP53_g.14018del commonName del1 TP53_g.12739G>T commonName G>T TP53_g.12739G>T protEffect p.Glu224STOP TP53_g.12684T>G commonName T>G TP53_g.12684T>G protEffect p.Tyr205STOP TP53_g.12634G>C commonName G>C TP53_g.12634G>C protEffect p.Ala189Pro TP53_g.12703del commonName del1 TP53_g.12504T>C commonName T>C TP53_g.12504T>C protEffect p.Val172Val TP53_g.12511C>T commonName C>T TP53_g.12511C>T protEffect p.Arg175Cys TP53_g.12506T>A commonName T>A TP53_g.12506T>A protEffect p.Val173Glu TP53_g.13800G>T commonName G>T TP53_g.13800G>T protEffect p.Val274Phe TP53_g.13830A>G commonName A>G TP53_g.13830A>G protEffect p.Thr284Ala TP53_g.12552G>C commonName G>C TP53_g.12440C>G commonName C>G TP53_g.12440C>G protEffect p.Pro151Arg TP53_g.12445C>A commonName C>A TP53_g.12445C>A protEffect p.Pro153Thr TP53_g.11511T>A commonName T>A TP53_g.11511T>A protEffect p.Ser94Thr TP53_g.13822A>T commonName A>T TP53_g.13822A>T protEffect p.Asp281Val TP53_g.12737C>T commonName C>T TP53_g.12737C>T protEffect p.Pro223Leu TP53_g.12401del commonName del1 TP53_g.12366C>G commonName C>G TP53_g.12366C>G protEffect p.Tyr126STOP BGMUT_10 alias A201 intronic BGMUT_10 commonName A201 BGMUT_10 phenoCommon A2 BGMUT_100 commonName Aw07 BGMUT_100 phenoCommon Aw BGMUT_100 protEffect P156L; R198W; 354fs + 21aa BGMUT_101 commonName Aw08 BGMUT_101 phenoCommon Aw BGMUT_101 protEffect P74S; T163M; R176G; G268R BGMUT_103 commonName Ael01 BGMUT_103 phenoCommon Ael BGMUT_103 protEffect 269fs BGMUT_104 commonName Ael02 BGMUT_104 phenoCommon Ael BGMUT_104 protEffect P156L; F216I BGMUT_105 alias Aelvar BGMUT_105 commonName Ael03 BGMUT_105 phenoCommon Ael BGMUT_105 protEffect 269fs BGMUT_106 commonName Ael04 BGMUT_106 phenoCommon Ael BGMUT_106 protEffect no full transcript; alternatively spliced fragments BGMUT_107 commonName Ael05 BGMUT_107 phenoCommon Ael BGMUT_107 protEffect P156L; I256T BGMUT_108 alias A112 BGMUT_108 commonName Am01 BGMUT_108 phenoCommon Am BGMUT_108 protEffect P156L A254V BGMUT_109 commonName Am02 BGMUT_109 phenoCommon Am BGMUT_109 protEffect V222M BGMUT_11 commonName A202 BGMUT_11 phenoCommon A2 BGMUT_11 protEffect R352W BGMUT_110 commonName cis-AB01 BGMUT_110 phenoCommon cisAB BGMUT_110 protEffect P156L; G268A BGMUT_111 commonName cis-AB02 BGMUT_111 phenoCommon cisAB BGMUT_111 protEffect R176G; G235S; G268A BGMUT_112 commonName cis-AB03 BGMUT_112 phenoCommon cisAB BGMUT_112 protEffect R176G; P234A; G235S; L266M; G268A; BGMUT_113 commonName cis-AB04 BGMUT_113 phenoCommon cisAB BGMUT_113 protEffect P156L; L266M BGMUT_114 commonName B301 BGMUT_114 phenoCommon B3 BGMUT_114 protEffect R176G; G235S; L266M; G268A; R352W BGMUT_115 commonName B302 BGMUT_115 phenoCommon B3 BGMUT_115 protEffect R176G; F216I; G235S; L266M; G268A BGMUT_117 commonName B304 BGMUT_117 phenoCommon B3 BGMUT_117 protEffect D83Y; R176G; G235S; L266M; G268A BGMUT_118 commonName B(A)01 BGMUT_118 phenoCommon B(A) BGMUT_118 protEffect R176G; L266M; G268A BGMUT_119 commonName B(A)02 BGMUT_119 phenoCommon B(A) BGMUT_119 protEffect R176G; P234A; G235S; L266M; G268A; BGMUT_12 commonName A203 BGMUT_12 phenoCommon A2 BGMUT_12 protEffect R352G BGMUT_120 alias B(A)var BGMUT_120 commonName B(A)03 BGMUT_120 phenoCommon B(A) BGMUT_120 protEffect R176G; L266M; G268A BGMUT_121 alias B104 BGMUT_121 commonName Bx01 BGMUT_121 phenoCommon Bx BGMUT_121 protEffect R176G; G235S; L266M; G268A; D291N BGMUT_122 alias B105 BGMUT_122 commonName Bel01 BGMUT_122 phenoCommon Bel. very low B antigen expression BGMUT_122 protEffect R176G; M214R; G235S; L266M; G268A BGMUT_123 alias B106 BGMUT_123 commonName Bel02 BGMUT_123 phenoCommon Bel BGMUT_123 protEffect R176; E223D; G235S; L266M; G268A BGMUT_124 commonName Bel03 BGMUT_124 phenoCommon Bel BGMUT_124 protEffect R168W; R176G; G235S; L266M; G268A BGMUT_125 commonName Bel04 TP53_g.11445_11454del commonName del10 TP53_g.11564del commonName del1 BGMUT_125 phenoCommon Bel BGMUT_125 protEffect P156L; F216I; L266M; G268A; V277M BGMUT_126 commonName Bw02 BGMUT_126 phenoCommon Bw BGMUT_126 protEffect R176G; G235S; L266M; G268A; D291E BGMUT_127 commonName Bw03 BGMUT_127 phenoCommon Bw BGMUT_127 protEffect R176G; G235S; R241W; L266M; G268A BGMUT_128 commonName Bw04 BGMUT_128 phenoCommon Bw BGMUT_128 protEffect R176G; D183G; G235S; R241W; L266M; G268A BGMUT_129 commonName Bw05 BGMUT_129 phenoCommon Bw BGMUT_129 protEffect R176GR180H; G235S; L266M; G268A BGMUT_13 commonName A204 BGMUT_13 phenoCommon A2 BGMUT_13 protEffect R176G; G235S; V277M BGMUT_130 commonName Bw06 BGMUT_130 phenoCommon Bw BGMUT_130 protEffect R176G; G235S; L266M; G268A; K346E BGMUT_131 commonName Bw07 BGMUT_131 phenoCommon Bw BGMUT_131 protEffect R176G; G235S; L266M; G268A; R352Q BGMUT_132 commonName Bw08 BGMUT_132 phenoCommon Bw BGMUT_132 protEffect R176G; G235S; L266M; G268A; M288R BGMUT_133 commonName Bw09 BGMUT_133 phenoCommon Bw BGMUT_133 protEffect R176G; G235S; L266M; K346M BGMUT_134 commonName Bw10 BGMUT_134 protEffect R176G; M186V; G235S; L266M; G268A BGMUT_136 commonName C4A*1 BGMUT_136 phenoCommon Chi 3, 4, 5, 6; Rg - BGMUT_136 protEffect D1054G; N1157S; V1188A; L1191R; BGMUT_137 commonName C4A*3(WH) BGMUT_137 phenoCommon Ch6; Rg1 BGMUT_137 protEffect N1157S BGMUT_139 commonName C4B*1 BGMUT_139 phenoCommon Ch1, 2, 4, 5; Rg1 BGMUT_139 protEffect S1157N BGMUT_14 commonName A205 BGMUT_14 phenoCommon A2 BGMUT_14 protEffect P156L; R337G BGMUT_140 commonName C4B*2 BGMUT_140 phenoCommon Ch1, 3, 5, 6; Rg- BGMUT_140 protEffect G1054D BGMUT_141 commonName C4B*5 BGMUT_141 phenoCommon Ch4, 6; Rg1 BGMUT_141 protEffect G1054D; A1188V; R1191V; BGMUT_143 commonName AQP1-2 BGMUT_143 phenoCommon CO2; CO3; Co(a-,b+) BGMUT_143 protEffect A45V BGMUT_144 commonName AQP1-n1 BGMUT_144 phenoCommon Co(a-,b-) BGMUT_144 protEffect deletion of exon 1 encoded aa BGMUT_145 commonName AQP1-n2 BGMUT_145 phenoCommon Co(a-,b-) BGMUT_145 protEffect G107fs BGMUT_146 commonName AQP1-n3 BGMUT_146 phenoCommon Co(a-,b-) BGMUT_146 protEffect P38L BGMUT_147 commonName AQP1-n4 BGMUT_147 phenoCommon Co(a-,b-) BGMUT_147 protEffect N192K BGMUT_148 commonName AQP1-n5 BGMUT_148 phenoCommon Co(a-,b-) BGMUT_148 protEffect 78fs BGMUT_149 commonName AQP1-n6 BGMUT_149 protEffect Q47R BGMUT_15 commonName A206 BGMUT_15 phenoCommon A2 BGMUT_15 protEffect 354fs + 21aa BGMUT_151 alias DAF 679C BGMUT_151 commonName DAF Cr(a-) BGMUT_151 phenoCommon Cr(a-) BGMUT_151 protEffect A227P BGMUT_152 alias DAF 155T BGMUT_152 commonName DAF Tc-b BGMUT_152 phenoCommon Tc-b BGMUT_152 protEffect R52L BGMUT_153 alias DAF 155C BGMUT_153 commonName DAF Tc-c BGMUT_153 phenoCommon Tc-c BGMUT_153 protEffect R52P BGMUT_155 alias DAF 239A BGMUT_155 commonName DAF Es(a-) BGMUT_155 phenoCommon Es(a-) BGMUT_155 protEffect I80N BGMUT_156 alias DAF 261A BGMUT_156 commonName DAF IFC- BGMUT_156 phenoCommon null; Inab- BGMUT_156 protEffect W87X BGMUT_157 alias DAF 263A BGMUT_157 commonName DAF IFC- BGMUT_157 phenoCommon null; Inab- BGMUT_157 protEffect S88X BGMUT_158 alias DAF 245T BGMUT_158 commonName DAF WES-a BGMUT_158 phenoCommon WES-a BGMUT_158 protEffect L82R BGMUT_159 alias DAF 749T BGMUT_159 commonName DAF UMC- BGMUT_159 phenoCommon UMC- BGMUT_159 protEffect T250M BGMUT_16 commonName A207 BGMUT_16 phenoCommon A2 BGMUT_16 protEffect R180P BGMUT_160 alias DAF 719A BGMUT_160 commonName DAF GUTI- BGMUT_160 phenoCommon GUT1- BGMUT_160 protEffect R240H BGMUT_161 alias DAF 647T BGMUT_161 commonName DAF SERF- BGMUT_161 phenoCommon SERF- BGMUT_161 protEffect P216L BGMUT_162 alias DAF 726G BGMUT_162 commonName DAF Zena (CROM13) BGMUT_162 phenoCommon Zena- BGMUT_162 protEffect H242Q BGMUT_164 alias DO 378T; 624C; 793G BGMUT_164 commonName DOB BGMUT_164 phenoCommon DOb BGMUT_164 protEffect Y126Y; L208L; N265D BGMUT_165 alias DO 323T, 378T BGMUT_165 commonName DO HY BGMUT_165 phenoCommon Hy + BGMUT_165 protEffect G108V BGMUT_166 alias DO 350T, 378T BGMUT_166 commonName DO JO BGMUT_166 phenoCommon Jo(a -) BGMUT_166 protEffect T117I BGMUT_167 alias DO intron 1 3'G BGMUT_167 commonName DO GY1 BGMUT_167 phenoCommon Donull; Gy(a-) BGMUT_167 protEffect DOB exon 2 del BGMUT_168 alias DO intron 1 5'C BGMUT_168 commonName DO GY4 BGMUT_168 phenoCommon Donull; Gy(a-) BGMUT_168 protEffect DOB exon 2 del BGMUT_169 alias DO 442T BGMUT_169 commonName DO GY5 BGMUT_169 phenoCommon Donull; Gy(a-) BGMUT_169 protEffect Q148X BGMUT_17 alias B101 exonic BGMUT_17 commonName B101 BGMUT_17 phenoCommon B BGMUT_17 protEffect R176G; G235S; L266M; G268A BGMUT_170 commonName DO 343-350del BGMUT_170 phenoCommon Donull; Gy(a-) BGMUT_170 protEffect 114 fs + X BGMUT_171 alias DO 323T, 898G BGMUT_171 commonName DO HY1 BGMUT_171 phenoCommon Hy- BGMUT_171 protEffect G108V; N265D; L300V BGMUT_172 alias DO 323T BGMUT_172 commonName DO HY2 BGMUT_172 phenoCommon Hy- BGMUT_172 protEffect G108V; N265D; BGMUT_174 commonName SLC4A1 - DIa BGMUT_174 phenoCommon DIa (Memphis neg) BGMUT_174 protEffect P854L BGMUT_175 commonName SLC4A1 - Memphis-DIb BGMUT_175 phenoCommon DIb BGMUT_175 protEffect K56E BGMUT_176 commonName SLC4A1 - Memphis-DIa BGMUT_176 phenoCommon DIa BGMUT_176 protEffect K56E; P854L BGMUT_177 commonName SLC4A1 - Tuscaloosa BGMUT_177 protEffect K56E; P327R BGMUT_178 commonName SLC4A1 - Montefiore BGMUT_178 protEffect E40K BGMUT_179 commonName SLC4A1 - Foggia BGMUT_179 protEffect 54-55fs BGMUT_18 alias B101 intronic BGMUT_18 commonName B101 BGMUT_18 phenoCommon B BGMUT_18 protEffect none BGMUT_180 commonName SLC4A1 - Kagoshima BGMUT_180 protEffect 56fs BGMUT_181 commonName SLC4A1 - Hodonin BGMUT_181 protEffect W81X BGMUT_182 commonName SLC4A1 - Cape Town BGMUT_182 protEffect E90K BGMUT_183 commonName SLC4A1 - Napoli I BGMUT_183 protEffect 99-100fs BGMUT_184 commonName SLC4A1 - Fukayama I BGMUT_184 protEffect 112-113fs BGMUT_185 commonName SLC4A1 - Nachod BGMUT_185 protEffect 117-121del GTVLL BGMUT_186 commonName SLC4A1 - Fukoka BGMUT_186 protEffect G130R BGMUT_187 commonName SLC4A1 - Osnabruck I BGMUT_187 protEffect R150X BGMUT_188 commonName SLC4A1 - Worcester BGMUT_188 protEffect 172-173fs BGMUT_189 commonName SLC4A1 - Fukayama II BGMUT_189 protEffect 183fs BGMUT_19 commonName B101 var1 BGMUT_19 phenoCommon B BGMUT_19 protEffect R176G; G235S; L266M; G268A BGMUT_190 commonName SLC4A1 - Campinas BGMUT_190 protEffect 203fs BGMUT_191 commonName SLC4A1 - Bohain BGMUT_191 protEffect 241fs BGMUT_192 commonName SLC4A1 - Princeton BGMUT_192 protEffect 273-275fs BGMUT_193 commonName SLC4A1 - Boston BGMUT_193 protEffect A285D BGMUT_194 commonName SLC4A1 - Noirterre BGMUT_194 protEffect Q330X BGMUT_195 commonName SLC4A1 - Bruggen BGMUT_195 protEffect 419fs BGMUT_196 commonName SLC4A1 - Benesov BGMUT_196 protEffect G455E BGMUT_197 commonName SLC4A1 - Bicetre II BGMUT_197 protEffect 456fs BGMUT_198 commonName SLC4A1 - Pribram BGMUT_198 protEffect 477fs BGMUT_199 commonName SLC4A1 - Coimbra BGMUT_199 protEffect V488M BGMUT_20 commonName B102 BGMUT_20 phenoCommon B BGMUT_20 protEffect R176G; G235S L266M; G268A BGMUT_200 commonName SLC4A1 - Bicetre I BGMUT_200 protEffect R490C BGMUT_201 commonName SLC4A1 - Evry BGMUT_201 protEffect 492fs BGMUT_202 commonName SLC4A1 - Milano BGMUT_202 protEffect 498ins, 23 residues BGMUT_203 commonName SLC4A1 - Dresden BGMUT_203 protEffect R518C BGMUT_204 commonName SLC4A1 - Smichov BGMUT_204 protEffect 616fs BGMUT_205 commonName SLC4A1 - Trutnov BGMUT_205 protEffect Y628X BGMUT_206 commonName SLC4A1 - Hobart BGMUT_206 protEffect 646-647fs BGMUT_207 commonName SLC4A1 - Osnabruck II BGMUT_207 protEffect 663-664fs BGMUT_208 commonName SLC4A1 - Most BGMUT_208 protEffect P707L BGMUT_209 commonName SLC4A1 - Okinawa BGMUT_209 protEffect G714R BGMUT_21 commonName B103 BGMUT_21 phenoCommon B BGMUT_21 protEffect R176G; G235S L266M; G268A BGMUT_210 commonName SLC4A1 - Prague II BGMUT_210 protEffect R760Q BGMUT_211 alias SCLCA1 2278T BGMUT_211 commonName SLC4A1 - Hradec Kralove BGMUT_211 protEffect R760W BGMUT_212 commonName SLC4A1 - Chur BGMUT_212 protEffect G771D BGMUT_213 commonName SLC4A1 - Napoli II BGMUT_213 protEffect I783N BGMUT_214 commonName SLC4A1 - Jablonec BGMUT_214 protEffect R808C BGMUT_215 commonName SLC4A1 - Nara BGMUT_215 protEffect R808H BGMUT_216 commonName SLC4A1 - Prague I BGMUT_216 protEffect 822fs BGMUT_217 commonName SLC4A1 - Birmingham BGMUT_217 protEffect H834P BGMUT_218 commonName SLC4A1 - Philadelphia BGMUT_218 protEffect T837M BGMUT_219 commonName SLC4A1 - Tokyo BGMUT_219 protEffect T837A BGMUT_22 commonName B107 BGMUT_22 phenoCommon B BGMUT_22 protEffect R176G G235S L266M G268A BGMUT_220 commonName SLC4A1 - HT BGMUT_220 protEffect P868L BGMUT_221 commonName SLC4A1 - Prague III BGMUT_221 protEffect R870W BGMUT_222 commonName SLC4A1 - Vesuvio BGMUT_222 protEffect 984fs BGMUT_223 commonName SLC4A1 - SAO BGMUT_223 protEffect K56E; del400-408 BGMUT_224 commonName SLC4A1 - dRTA1 BGMUT_224 protEffect R589H BGMUT_225 commonName SLC4A1 - dRTA2(1765T) BGMUT_225 protEffect R589C BGMUT_226 commonName SLC4A1 - dRTA2(1765A) BGMUT_226 protEffect R589S BGMUT_227 commonName SLC4A1 - dRTA2(2703del) BGMUT_227 protEffect del901-911 BGMUT_228 commonName SLC4A1 - dRTA3 BGMUT_228 protEffect S613F BGMUT_229 commonName SLC4A1 - dRTA4 BGMUT_229 protEffect M31T; K56E; G701D BGMUT_23 alias O01 exonic BGMUT_23 commonName O01 BGMUT_23 phenoCommon O BGMUT_23 protEffect 88fs + truncation BGMUT_230 commonName SLC4A1 - dRTA5 BGMUT_230 protEffect A858D BGMUT_231 commonName SLC4A1 - dRTA6 BGMUT_231 protEffect 850delV BGMUT_232 commonName SLC4A1 - dRTA6 BGMUT_232 protEffect G701D BGMUT_233 commonName SLC4A1 - Wra BGMUT_233 phenoCommon Wra BGMUT_233 protEffect E658K BGMUT_234 commonName SLC4A1 - Wda BGMUT_234 phenoCommon Wda BGMUT_234 protEffect V557M BGMUT_235 commonName SLC4A1 - Rba BGMUT_235 phenoCommon Rba BGMUT_235 protEffect P548L BGMUT_236 commonName SLC4A1 - WARR BGMUT_236 protEffect T552I BGMUT_237 commonName SLC4A1 - ELO BGMUT_237 phenoCommon ELO BGMUT_237 protEffect R432W BGMUT_238 commonName SLC4A1 - Wu BGMUT_238 phenoCommon Wu BGMUT_238 protEffect G565A BGMUT_239 commonName SLC4A1 - Bpa BGMUT_239 phenoCommon Bpa BGMUT_239 protEffect N569K BGMUT_24 alias O01 intronic BGMUT_24 commonName O01 BGMUT_24 phenoCommon O BGMUT_240 commonName SLC4A1 - Moa BGMUT_240 phenoCommon Moa BGMUT_240 protEffect R656H BGMUT_241 commonName SLC4A1 - Hga BGMUT_241 phenoCommon Hga BGMUT_241 protEffect R656C BGMUT_242 commonName SLC4A1 - Vga BGMUT_242 protEffect Y555H BGMUT_243 commonName SLC4A1 - Swa1 BGMUT_243 phenoCommon Swa BGMUT_243 protEffect R646Q BGMUT_244 commonName SLC4A1 - Swa2 BGMUT_244 phenoCommon Swa BGMUT_244 protEffect R646W BGMUT_245 commonName SLC4A1 - BOW BGMUT_245 phenoCommon BOW BGMUT_245 protEffect P561S BGMUT_246 commonName SLC4A1 - NFLD BGMUT_246 phenoCommon NFLD BGMUT_246 protEffect E429D; P561A BGMUT_247 commonName SLC4A1 - Jna BGMUT_247 phenoCommon Jna BGMUT_247 protEffect P566S BGMUT_248 commonName SLC4A1 - KREP BGMUT_248 phenoCommon KREP BGMUT_248 protEffect P566A BGMUT_249 commonName SLC4A1 - Tra BGMUT_249 phenoCommon Tra BGMUT_249 protEffect K551N BGMUT_25 commonName O011 BGMUT_25 phenoCommon O BGMUT_250 commonName SLC4A1 - Fra BGMUT_250 phenoCommon Fra BGMUT_250 protEffect E480K BGMUT_251 alias FYA 125G BGMUT_251 commonName FYA BGMUT_251 phenoCommon FY(a+b-) BGMUT_251 protEffect D42G BGMUT_253 alias FYB -33C BGMUT_253 commonName FYB ES BGMUT_253 phenoCommon FY(a-b-) BGMUT_253 protEffect protein is not expressed in erythroid cells. BGMUT_254 alias FYB 298A BGMUT_254 commonName FYB 1 BGMUT_254 phenoCommon FY(a-b+) BGMUT_254 protEffect A100T BGMUT_255 alias FYB 265T, 298A BGMUT_255 commonName FYB 2; FYBWK BGMUT_255 phenoCommon FY(a-b+wk) BGMUT_255 protEffect R89C; A100T BGMUT_256 alias FYB 145T, 298A BGMUT_256 commonName FYB 3 BGMUT_256 phenoCommon FY(a-b+wk) BGMUT_256 protEffect A49S; R89C; A100T BGMUT_257 alias FYA 281-295del BGMUT_257 commonName FYAO (AZ) BGMUT_257 phenoCommon FY(a-b-) BGMUT_257 protEffect putative truncated protein of 118 residues BGMUT_258 alias FYA 293A BGMUT_258 commonName FYAO (Ye) BGMUT_258 phenoCommon FY(a-b-) BGMUT_258 protEffect W98X BGMUT_259 alias FYA 413A BGMUT_259 commonName FYAO(NE) BGMUT_259 phenoCommon FY(a-b-) BGMUT_259 protEffect W138X BGMUT_26 alias O02 exonic BGMUT_26 commonName O02 BGMUT_26 phenoCommon O BGMUT_26 protEffect V36F; R63H; P74S; 88fs + truncation BGMUT_260 alias FYB 413A BGMUT_260 commonName FYBO (patient 2) BGMUT_260 phenoCommon FY(a-b-) BGMUT_260 protEffect W138X BGMUT_261 alias FYA 414A BGMUT_261 commonName FYAO (patient 3) BGMUT_261 phenoCommon FY(a-b-) BGMUT_261 protEffect W138X BGMUT_263 commonName GYPC -2 BGMUT_263 phenoCommon Ge:-2,3,4 (Yus type) BGMUT_263 protEffect altered GPC BGMUT_264 commonName GYPC -2-3+4 BGMUT_264 phenoCommon Ge:-2,-2,4 (Gerbich type) BGMUT_264 protEffect altered GPC BGMUT_266 alias GYPC -2-3-4 BGMUT_266 commonName LN BGMUT_266 phenoCommon Ge:-2,-3,-4; (Leach LN type) BGMUT_266 protEffect W44L 45fs; 55X BGMUT_267 alias Webb; GYPC-5 BGMUT_267 commonName Wb BGMUT_267 phenoCommon Wb (Webb) BGMUT_267 protEffect N8S BGMUT_269 alias GYPC-7; GYPC 67T BGMUT_269 commonName Ana BGMUT_269 phenoCommon Ana BGMUT_269 protEffect A2S in GPD BGMUT_27 alias O02 intronic BGMUT_27 commonName O02 BGMUT_27 phenoCommon O BGMUT_27 protEffect none BGMUT_270 alias GYPC-8; GYPC 40T BGMUT_270 commonName Dha BGMUT_270 phenoCommon Dha (Duch) BGMUT_270 protEffect L14F BGMUT_272 commonName AQP3 delta 5, French, USA BGMUT_272 protEffect exon 5 skipped; fs BGMUT_274 alias FUT1 349T BGMUT_274 commonName Reunion Island BGMUT_274 phenoCommon Reunion BGMUT_274 protEffect H117Y BGMUT_275 alias FUT1 442T BGMUT_275 commonName h4 (Japan) BGMUT_275 phenoCommon para-Bombay BGMUT_275 protEffect D148Y BGMUT_276 alias FUT1 460C, 1042A BGMUT_276 commonName h5 (Japan) BGMUT_276 phenoCommon para-Bombay BGMUT_276 protEffect Y154H; E348K BGMUT_277 alias FUT1 460C BGMUT_277 commonName h5 (Taiwan) BGMUT_277 phenoCommon para-Bombay BGMUT_277 protEffect Y154H BGMUT_278 alias FUT1 461G BGMUT_278 commonName Europe 1 BGMUT_278 phenoCommon Bombay BGMUT_278 protEffect Y154C BGMUT_279 alias FUT1 462A BGMUT_279 commonName h6 (Japan) BGMUT_279 phenoCommon Bombay BGMUT_279 protEffect Y154X BGMUT_28 alias O03 exonic BGMUT_28 commonName O03 BGMUT_28 phenoCommon O BGMUT_28 protEffect P74S; R176G; G268R BGMUT_280 alias USA1 BGMUT_280 commonName FUT1 491A BGMUT_280 phenoCommon para-Bombay BGMUT_280 protEffect L164H BGMUT_281 alias FUT1 513C BGMUT_281 commonName Europe 2 BGMUT_281 phenoCommon Bombay BGMUT_281 protEffect W171C BGMUT_282 alias FUT1 522A BGMUT_282 commonName China BGMUT_282 phenoCommon para-Bombay BGMUT_282 protEffect F174L BGMUT_283 alias FUT1 547delAG BGMUT_283 commonName h1 (Taiwan) BGMUT_283 phenoCommon para-Bombay BGMUT_283 protEffect 182fs BGMUT_284 alias FUT1 658T BGMUT_284 commonName h3 (Taiwan) BGMUT_284 phenoCommon para-Bombay BGMUT_284 protEffect R220C BGMUT_285 alias FUT1 695A BGMUT_285 commonName h1 (Japan) BGMUT_285 phenoCommon Bombay BGMUT_285 protEffect W232X BGMUT_286 alias FUT1 721C BGMUT_286 commonName h3 (Japan) BGMUT_286 phenoCommon para-Bombay BGMUT_286 protEffect Y241H BGMUT_287 alias FUT1 725G BGMUT_287 commonName India BGMUT_287 phenoCommon Bombay BGMUT_287 protEffect L242R BGMUT_288 alias FUT1 776A BGMUT_288 commonName Europe 3 BGMUT_288 phenoCommon Bombay BGMUT_288 protEffect V259E BGMUT_289 alias FUT1 785A, 786A BGMUT_289 commonName Europe 4 BGMUT_289 phenoCommon Bombay BGMUT_289 protEffect S262K BGMUT_290 commonName FUT1 801C BGMUT_290 protEffect W267C BGMUT_291 commonName FUT1 801T BGMUT_291 protEffect W267C BGMUT_292 alias USA2 BGMUT_292 commonName FUT1 826T BGMUT_292 phenoCommon para-Bombay BGMUT_292 protEffect Q276X BGMUT_293 commonName FUT1 832A BGMUT_293 protEffect D278N BGMUT_294 alias FUT1 880delTT h2 BGMUT_294 commonName h2 (Taiwan) BGMUT_294 phenoCommon para-Bombay BGMUT_294 protEffect 294fs BGMUT_295 alias FUT1 522A BGMUT_295 commonName h6 (China) BGMUT_295 phenoCommon para-Bombay BGMUT_295 protEffect F174L BGMUT_296 alias FUT1 904 insAAC BGMUT_296 commonName h7 (Japan) BGMUT_296 phenoCommon para-Bombay BGMUT_296 protEffect H302-T303 insN BGMUT_297 alias FUT1 944T BGMUT_297 commonName Europe 5 BGMUT_297 phenoCommon Bombay BGMUT_297 protEffect A315V BGMUT_299 alias FUT1 990delG BGMUT_299 commonName h2 (Japan) BGMUT_299 phenoCommon para-Bombay BGMUT_299 protEffect 330fs BGMUT_30 commonName O04 BGMUT_30 phenoCommon O BGMUT_30 protEffect 88fs + truncation BGMUT_300 alias FUT1 1047C BGMUT_300 commonName Europe 6 BGMUT_300 phenoCommon Bombay BGMUT_300 protEffect W349C BGMUT_302 alias FUT2 428A BGMUT_302 commonName se2 (Reunion) BGMUT_302 phenoCommon non-secretor BGMUT_302 protEffect W143X; enzyme inactive BGMUT_303 alias FUT2 715del BGMUT_303 commonName Sec1 BGMUT_303 protEffect D238fs BGMUT_304 alias FUT2 357T BGMUT_304 commonName Se2 BGMUT_304 phenoCommon secretor BGMUT_304 protEffect no change BGMUT_308 alias FUT2 571T BGMUT_308 commonName se3 Japan, Philippines Polynesia, Taiwan BGMUT_308 phenoCommon non-secretor BGMUT_308 protEffect R191X BGMUT_309 alias FUT2 628T BGMUT_309 commonName se5 Japan BGMUT_309 phenoCommon non-secretor BGMUT_309 protEffect R210X BGMUT_31 commonName O05 BGMUT_31 phenoCommon O BGMUT_31 protEffect 88fs + truncation BGMUT_310 alias FUT2 658T BGMUT_310 commonName China BGMUT_310 phenoCommon non-secretor BGMUT_310 protEffect R220X BGMUT_311 alias FUT2 delGT BGMUT_311 commonName Taiwan BGMUT_311 phenoCommon non-secretor BGMUT_311 protEffect V230del BGMUT_312 alias FUT2 849A BGMUT_312 commonName se4 Philippines, Taiwan BGMUT_312 phenoCommon non-secretor BGMUT_312 protEffect W283X BGMUT_313 alias FUT2 40G BGMUT_313 commonName Se40 South Africa BGMUT_313 phenoCommon secretor BGMUT_313 protEffect I14V BGMUT_314 alias FUT2 481A BGMUT_314 commonName Se481 South Africa BGMUT_314 phenoCommon secretor BGMUT_314 protEffect D161N BGMUT_315 alias FUT2 40G, 481A BGMUT_315 commonName Se40, 481 South Africa BGMUT_315 phenoCommon secretor BGMUT_315 protEffect I14V; D161N BGMUT_316 alias FUT2 357T BGMUT_316 commonName Se357 Taiwan, new Quinea BGMUT_316 phenoCommon secretor BGMUT_316 protEffect no change BGMUT_317 alias FUT2 357T, 480T BGMUT_317 commonName Se357, 480 Africa new Guinea BGMUT_317 phenoCommon secretor BGMUT_317 protEffect no change BGMUT_318 alias FUT2 357T, 379T, 480T BGMUT_318 commonName Se South Africa BGMUT_318 phenoCommon secretor BGMUT_318 protEffect R127C BGMUT_319 alias FUT2 375G BGMUT_319 commonName Se375 South Africa BGMUT_319 phenoCommon secretor BGMUT_319 protEffect no change BGMUT_32 alias O06 exonic BGMUT_32 commonName O06 BGMUT_32 phenoCommon O BGMUT_32 protEffect 88fs + truncation BGMUT_320 alias FUT2 357T, 480T, 778delC BGMUT_320 commonName se 357, 480, 778 South Africa BGMUT_320 phenoCommon non-secretor BGMUT_320 protEffect 259fs 275X BGMUT_321 alias FUT2 385T BGMUT_321 commonName Se385 Polynesia, Taiwan (se2) BGMUT_321 phenoCommon weak secretor BGMUT_321 protEffect I129F BGMUT_322 alias FUT2 357T, 385T BGMUT_322 commonName se385 New Guinea BGMUT_322 protEffect I129F BGMUT_323 alias FUT2 400A BGMUT_323 commonName Se400 New Guinea BGMUT_323 protEffect V134I BGMUT_324 commonName se428 New Guinea BGMUT_324 protEffect W143X; G247S BGMUT_325 alias FUT2 357T, 571T BGMUT_325 commonName se571 New Guinea BGMUT_325 protEffect R191X BGMUT_326 alias FUT2 375G, 664T BGMUT_326 commonName se664 New Guinea BGMUT_326 phenoCommon non-secretor BGMUT_326 protEffect R222C BGMUT_327 alias FUT2 400A, 760A BGMUT_327 commonName se760 New Guinea BGMUT_327 phenoCommon non-secretor BGMUT_327 protEffect V134I; D254N BGMUT_328 alias FUT2 357T, 868A BGMUT_328 commonName se868 New Guinea BGMUT_328 phenoCommon non-secretor BGMUT_328 protEffect G290R BGMUT_329 alias FUT2 357T, 385T BGMUT_329 commonName sej Japan BGMUT_329 phenoCommon non-secretor BGMUT_329 protEffect I129F BGMUT_33 alias O06 intronic BGMUT_33 commonName O06 BGMUT_33 phenoCommon O BGMUT_33 protEffect none BGMUT_330 alias FUT2 688-690del BGMUT_330 commonName se7 BGMUT_330 phenoCommon non-secretor BGMUT_330 protEffect 230delV BGMUT_332 commonName GYPA N BGMUT_332 phenoCommon N BGMUT_332 protEffect S20L; G24E BGMUT_334 commonName GYPB S BGMUT_334 phenoCommon S BGMUT_334 protEffect T48M BGMUT_337 alias GYPA 78R BGMUT_337 commonName GYP Erik/Sta BGMUT_337 phenoCommon ERIK/Sta BGMUT_337 protEffect G78R + /- DTHKRDT YAATPRA HEVSEISV RTVYPPEEET27-78del (sequence encoded by exon 3 is not expressed) BGMUT_338 alias GYPA 84P BGMUT_338 commonName GYP HAG BGMUT_338 phenoCommon HAG BGMUT_338 protEffect A84P BGMUT_34 commonName O07 BGMUT_34 phenoCommon O BGMUT_34 protEffect 88fs + truncation BGMUT_35 commonName O08 BGMUT_35 phenoCommon O BGMUT_35 protEffect P156L; 268fs; also 354fs (residues 269-354 are altered) BGMUT_359 alias GYPB 161A BGMUT_359 commonName GYP Mit BGMUT_359 phenoCommon Mit BGMUT_359 protEffect R54H BGMUT_36 commonName O09 BGMUT_36 phenoCommon O BGMUT_36 protEffect 88fs + truncation BGMUT_361 alias GYPA 230T BGMUT_361 commonName GYPA Mta BGMUT_361 phenoCommon Mta BGMUT_361 protEffect T77I BGMUT_362 alias GYPB 65G BGMUT_362 commonName GYPB M(V) BGMUT_362 phenoCommon M(v) BGMUT_362 protEffect T22S BGMUT_363 alias GYPA 138A BGMUT_363 commonName GYPA Nya BGMUT_363 phenoCommon Nya BGMUT_363 protEffect D46E BGMUT_364 alias GYPA 217T BGMUT_364 commonName GYPA Osa BGMUT_364 phenoCommon Osa BGMUT_364 protEffect P73S BGMUT_365 alias GYPB 173G BGMUT_365 commonName GYPB s(D) BGMUT_365 phenoCommon s(D) BGMUT_365 protEffect P58R BGMUT_37 commonName O10 BGMUT_37 phenoCommon O BGMUT_37 protEffect 88fs + truncation BGMUT_373 alias GYPA 66Y BGMUT_373 commonName GYP Vr BGMUT_373 phenoCommon Vr BGMUT_373 protEffect S66Y BGMUT_375 commonName IGnTC 505A BGMUT_375 phenoCommon adult i in Caucasians; no cataract BGMUT_375 protEffect A169T BGMUT_376 commonName IGnTC 683A BGMUT_376 phenoCommon adult i in Caucasians; no cataract BGMUT_376 protEffect R228Q BGMUT_377 commonName IGnTC 816C BGMUT_377 phenoCommon common I and adult i (the latter with congenital cataract) BGMUT_377 protEffect E272D BGMUT_379 alias IGnT 1043A BGMUT_379 commonName IGnT A, B, C 1 BGMUT_379 phenoCommon adult i in Taiwanese; congenital cataract BGMUT_379 protEffect G348E BGMUT_38 alias O11 exonic BGMUT_38 commonName O11 BGMUT_38 phenoCommon O BGMUT_38 protEffect 88fs + truncation BGMUT_380 alias IGnT 1148A BGMUT_380 commonName IGnT A, B, C 2 BGMUT_380 phenoCommon adult i in Taiwanese; congenital cataract BGMUT_380 protEffect R383H BGMUT_382 commonName IGnTB 978A BGMUT_382 phenoCommon adult i in Arabs (four families); congenital cataract BGMUT_382 protEffect W326X BGMUT_383 alias CD44 137C, 207C, 255C, 326C, 716A BGMUT_383 commonName IN1 (In a) BGMUT_383 phenoCommon In a+ b- BGMUT_383 protEffect R46P; A69A; H85H; Y109S; G239E BGMUT_387 alias 838A BGMUT_387 commonName JKB BGMUT_387 phenoCommon Jk(a-b+) BGMUT_387 protEffect D280N BGMUT_388 alias Delta 6 BGMUT_388 commonName JKB(BS) BGMUT_388 phenoCommon Jk(a-b-) BGMUT_388 protEffect 114-156 del (exon 6) BGMUT_389 alias Delta 7 BGMUT_389 commonName JKB (LP) BGMUT_389 phenoCommon Jk(a-b-) BGMUT_389 protEffect 157-221 del (exon 7); fs + premature X BGMUT_39 alias O11 intronic BGMUT_39 commonName O11 BGMUT_39 phenoCommon O BGMUT_390 commonName JKB 871C BGMUT_390 phenoCommon Jk(a-b-) BGMUT_390 protEffect S291P BGMUT_391 commonName JKA (delta4, 5 + E*) BGMUT_391 phenoCommon Jk(a-b-) BGMUT_391 protEffect protein not expressed BGMUT_392 alias 582G BGMUT_392 commonName JKA Swiss BGMUT_392 phenoCommon Jk(a-b-) BGMUT_392 protEffect Y194X BGMUT_393 commonName JKA English BGMUT_393 phenoCommon Jk(a-b-) BGMUT_393 protEffect protein not expressed BGMUT_395 alias 578T BGMUT_395 commonName KEL1 1 BGMUT_395 phenoCommon K1 BGMUT_395 protEffect T193M BGMUT_396 alias 578G BGMUT_396 commonName KEL1 2 BGMUT_396 phenoCommon K1 BGMUT_396 protEffect T193R BGMUT_397 alias 577T; KEL 1-Ser193 BGMUT_397 commonName KEL1 3 BGMUT_397 phenoCommon K1; may also express K2 BGMUT_397 protEffect T193S BGMUT_398 alias 841T BGMUT_398 commonName KEL3 BGMUT_398 phenoCommon K3 BGMUT_398 protEffect R281W BGMUT_399 alias 842A BGMUT_399 commonName KEL21 BGMUT_399 phenoCommon K21 BGMUT_399 protEffect R281Q BGMUT_4 commonName A102 BGMUT_4 phenoCommon A1 BGMUT_4 protEffect P156L BGMUT_40 alias O12 exonic BGMUT_40 commonName O12 BGMUT_40 phenoCommon O BGMUT_40 protEffect 88fs + truncation BGMUT_400 alias KEL 1790C, 1899G BGMUT_400 commonName KEL6 BGMUT_400 phenoCommon K6; Jsa BGMUT_400 protEffect L597P, L633L BGMUT_401 alias 1481T BGMUT_401 commonName KEL10 BGMUT_401 phenoCommon K10 BGMUT_401 protEffect E494V BGMUT_402 alias 905C BGMUT_402 commonName KEL17 BGMUT_402 phenoCommon K17 BGMUT_402 protEffect V302A BGMUT_403 alias 1145G BGMUT_403 commonName KEL23 BGMUT_403 protEffect Q382R BGMUT_404 alias 539C BGMUT_404 commonName KEL23 BGMUT_404 phenoCommon K24 BGMUT_404 protEffect R180P BGMUT_405 alias KEL 1643G BGMUT_405 commonName KEL12 BGMUT_405 phenoCommon K12 BGMUT_405 protEffect H548R BGMUT_406 alias KEL 388T, 389A BGMUT_406 commonName KEL18 BGMUT_406 phenoCommon K18 BGMUT_406 protEffect R130W; R130Q BGMUT_407 alias KEL 1475A BGMUT_407 commonName KEL19 BGMUT_407 phenoCommon K19 BGMUT_407 protEffect R492Q BGMUT_408 alias KEL 965T BGMUT_408 commonName KEL22 BGMUT_408 phenoCommon K-22 BGMUT_408 protEffect A322V BGMUT_409 alias VLAN BGMUT_409 commonName KEL25 BGMUT_409 phenoCommon VLAN BGMUT_409 protEffect R248Q BGMUT_41 alias O12 intronic BGMUT_41 commonName O12 BGMUT_41 phenoCommon O BGMUT_41 protEffect none BGMUT_410 commonName KEL 742T BGMUT_410 protEffect R248W BGMUT_411 alias TOU BGMUT_411 commonName KEL26 BGMUT_411 phenoCommon K26 BGMUT_411 protEffect R406Q BGMUT_412 alias RAZ BGMUT_412 commonName KEL27 BGMUT_412 phenoCommon RAZ BGMUT_412 protEffect E249K BGMUT_413 alias KEL 1268T BGMUT_413 commonName KEL 20 BGMUT_413 phenoCommon K2 weak BGMUT_413 protEffect A423V BGMUT_415 alias KEL 1088A, 2030G BGMUT_415 commonName KEL mod-2 BGMUT_415 protEffect S363N; Y677C BGMUT_416 alias KEL 986C,1596A BGMUT_416 commonName KEL mod-3 BGMUT_416 protEffect L329P; W532X BGMUT_417 alias KEL 2107A, 1719T BGMUT_417 commonName KEL mod-4 BGMUT_417 protEffect G703R BGMUT_418 alias KEL intron3 1C BGMUT_418 commonName Ko BGMUT_418 phenoCommon Ko; Kell null BGMUT_418 protEffect Protein not expressed. BGMUT_419 alias KEL 382T BGMUT_419 commonName Ko (Michigan, North Carolina) BGMUT_419 phenoCommon Ko; Kell null BGMUT_419 protEffect R128X BGMUT_42 commonName O13 BGMUT_42 phenoCommon O BGMUT_42 protEffect 88fs + truncation BGMUT_420 alias KEL 246A BGMUT_420 commonName Ko (Yougoslavia) BGMUT_420 phenoCommon Ko; Kell null BGMUT_420 protEffect C82X BGMUT_421 alias KEL 1042T BGMUT_421 commonName Ko (Portugal) BGMUT_421 phenoCommon Ko; Kell null BGMUT_421 protEffect Q348X BGMUT_422 alias KEL 2027A BGMUT_422 commonName Ko (Israel) BGMUT_422 phenoCommon Ko; Kell null BGMUT_422 protEffect S676N BGMUT_423 alias KEL intron3 1A BGMUT_423 commonName Ko (Reunion island, Seattle) BGMUT_423 phenoCommon Ko; Kell null BGMUT_423 protEffect Protein not expressed. BGMUT_424 alias KEL 1088A BGMUT_424 commonName Ko (Seattle, New York) BGMUT_424 phenoCommon Ko; Kell null BGMUT_424 protEffect S363N BGMUT_425 alias KEL 574T,1088A BGMUT_425 commonName Ko (New York) BGMUT_425 phenoCommon Ko; Kell null BGMUT_425 protEffect R192X BGMUT_426 alias KEL 1377A BGMUT_426 commonName Ko (Japan 1) BGMUT_426 phenoCommon Ko; Kell null BGMUT_426 protEffect W459X BGMUT_427 alias KEL intron5 3'G BGMUT_427 commonName Ko (Japan2) BGMUT_427 phenoCommon Ko; Kell null BGMUT_427 protEffect fs + termination BGMUT_428 alias KEL 1420T BGMUT_428 commonName Ko (Sweden1) BGMUT_428 phenoCommon Ko; Kell null BGMUT_428 protEffect Q474X BGMUT_429 alias KEL 903delG BGMUT_429 commonName Ko (Sweden2) BGMUT_429 phenoCommon Ko; Kell null BGMUT_429 protEffect 301fs BGMUT_43 commonName O14 BGMUT_43 phenoCommon O BGMUT_43 protEffect P156L; A298V BGMUT_431 alias KN2; KNB BGMUT_431 commonName CR1 4681A BGMUT_431 phenoCommon Kn(b +) BGMUT_431 protEffect V1561M BGMUT_433 alias KN6; KN McCB BGMUT_433 commonName CR1 4768G BGMUT_433 phenoCommon McC(b +) BGMUT_433 protEffect K1590E BGMUT_435 alias KN VIL BGMUT_435 commonName CR1 4801G BGMUT_435 phenoCommon Vil + (Sl2) BGMUT_435 protEffect R1601G BGMUT_437 alias KN Sl3 BGMUT_437 commonName CR1 4828A BGMUT_437 phenoCommon Sl3; needs Sl2 for expression BGMUT_437 protEffect S1610T BGMUT_439 alias KN L BGMUT_439 commonName CR1 L BGMUT_439 protEffect T445A; I684T; Q1022H; H1208R; I1615V; P1827R BGMUT_44 commonName O15 BGMUT_44 phenoCommon O BGMUT_44 protEffect Y309X BGMUT_444 commonName CR1 180A BGMUT_444 protEffect none BGMUT_445 commonName CR1 954C BGMUT_445 protEffect none BGMUT_446 commonName CR1 1329G BGMUT_446 protEffect none BGMUT_447 commonName CR1 1333A BGMUT_447 protEffect A445T BGMUT_448 commonName CR1 2051C BGMUT_448 protEffect I684T BGMUT_449 commonName CR1 2340C BGMUT_449 protEffect none BGMUT_45 commonName O16 BGMUT_45 phenoCommon O BGMUT_45 protEffect 88fs + truncation BGMUT_450 commonName CR1 3066T BGMUT_450 protEffect Q1022H BGMUT_451 commonName CR1 3623G BGMUT_451 protEffect H1208R BGMUT_452 commonName CR 1 4014C BGMUT_452 protEffect none BGMUT_453 commonName CR1 4145C BGMUT_453 protEffect S1382T BGMUT_454 commonName CR1 4223T BGMUT_454 protEffect T1408I BGMUT_455 commonName CR1 4843G BGMUT_455 phenoCommon KAM+ BGMUT_455 protEffect I1615V BGMUT_456 commonName CR1 5397G BGMUT_456 protEffect I1799M BGMUT_457 commonName CR1 5480G BGMUT_457 protEffect P1827R BGMUT_458 commonName CR1 5548G BGMUT_458 protEffect H1850D BGMUT_459 commonName CR1 5627T BGMUT_459 protEffect T1876I BGMUT_46 commonName O17 BGMUT_46 phenoCommon O BGMUT_46 protEffect 88fs + truncation BGMUT_461 alias FUT3 47C, 508A BGMUT_461 commonName le 47, 508 Sri Lanka BGMUT_461 phenoCommon Lewis negative BGMUT_461 protEffect C16S; G170S BGMUT_462 alias FUT3 47C, 202C, 314T BGMUT_462 commonName le47, 202, 314 Sri Lanka BGMUT_462 phenoCommon Lewis negative BGMUT_462 protEffect C16S; W68R; T105M BGMUT_463 alias FUT3 59G, le3, le1 Indonesia (L1), Japan and Sweden (le3), Denmark (le1) BGMUT_463 commonName L1 BGMUT_463 phenoCommon red cell Lewis negative; saliva Lewis positive BGMUT_463 protEffect L20R BGMUT_464 alias FUT3 1067A, le2 Indonesia(L2), Denmark (le2) BGMUT_464 commonName Le2 BGMUT_464 phenoCommon negative BGMUT_464 protEffect I356K BGMUT_465 alias FUT3 59G, 508A BGMUT_465 commonName le1, le4 Japan (le1), Denmark (le4) BGMUT_465 phenoCommon negative BGMUT_465 protEffect L20R; G170S BGMUT_466 alias FUT3 59G, 1067A BGMUT_466 commonName le2 Indonesia (le2), Japan (le3), Denmark BGMUT_466 phenoCommon negative BGMUT_466 protEffect L20R; I356K BGMUT_467 alias FUT3 202C, 314T BGMUT_467 commonName le5 Denmark and Sweden BGMUT_467 phenoCommon negative BGMUT_467 protEffect W68R; T105M BGMUT_468 alias FUT3 202C, 1067A BGMUT_468 commonName le6 Denmark BGMUT_468 phenoCommon negative BGMUT_468 protEffect W68R; I356K BGMUT_469 commonName le7 Denmark and Sweden BGMUT_469 phenoCommon negative BGMUT_469 protEffect L20R; L149M BGMUT_47 commonName O18 BGMUT_47 phenoCommon O BGMUT_47 protEffect 88fs + truncation BGMUT_470 alias FUT3 202C, 314T, 484A BGMUT_470 commonName le Caucasian (South Africa) BGMUT_470 phenoCommon negative BGMUT_470 protEffect W68R; T105M; D162N BGMUT_471 alias FUT3 484A, 667A BGMUT_471 commonName le1 Africa (Xhosa) BGMUT_471 phenoCommon negative BGMUT_471 protEffect D162N; G227R BGMUT_472 alias FUT3 484A, 667A, 808A BGMUT_472 commonName le2 Africa (Xhosa) BGMUT_472 phenoCommon negative BGMUT_472 protEffect D162N; G227R; V270M BGMUT_473 alias FUT3 760A BGMUT_473 commonName Indonesia BGMUT_473 phenoCommon negative BGMUT_473 protEffect D254N BGMUT_474 alias FUT3 304A BGMUT_474 commonName Le Caucasian (South Africa) BGMUT_474 phenoCommon positive BGMUT_474 protEffect Q102K BGMUT_475 alias FUT3 370G BGMUT_475 commonName Le Africa (Xhosa) BGMUT_475 phenoCommon positive BGMUT_475 protEffect S124A BGMUT_477 alias FUT6 370T, 730G, 907G BGMUT_477 commonName Jakarta, Indonesia 1 BGMUT_477 protEffect P124S; L244V; R303G BGMUT_478 alias FUT6 370T, 907G BGMUT_478 commonName Jakarta, Indonesia 2 BGMUT_478 protEffect P124S; R303G BGMUT_479 alias FUT6 370T, 739A BGMUT_479 commonName M1, M2 Jakarta, Indonesia, Sweden BGMUT_479 protEffect P124S; E247K BGMUT_48 commonName O19 BGMUT_48 phenoCommon O BGMUT_48 protEffect F216I; V277M BGMUT_480 alias FUT6 739A, 945A BGMUT_480 commonName M2, M4 Jakarta, Indonesia, Sweden BGMUT_480 protEffect E247K; Y315X BGMUT_482 alias FUT6 63A BGMUT_482 commonName A2 Xhosa, Africa BGMUT_482 protEffect L21L BGMUT_483 alias FUT6 63A, 172A, 376T BGMUT_483 commonName A3 Xhosa, Africa BGMUT_483 protEffect L21L; A58T; R126W BGMUT_484 alias FUT6 63A, 172A, 376T, 527T BGMUT_484 commonName A4 Xhosa, Africa BGMUT_484 protEffect L21L; A58T; R126W; G127V BGMUT_485 alias FUT6 729C BGMUT_485 commonName A5 Xhosa, Africa BGMUT_485 protEffect Y243Y BGMUT_486 alias FUT6 738T, 977A BGMUT_486 commonName A6 Japan, Europe, Xhosa, Africa BGMUT_486 protEffect F246F; R326Q BGMUT_487 alias FUT6 1002G BGMUT_487 commonName A7 Xhosa, Africa BGMUT_487 protEffect L334L BGMUT_488 alias FUT6 370T, 1002G BGMUT_488 commonName A8 Xhosa, Africa BGMUT_488 protEffect P124S; L334L BGMUT_489 alias FUT6 370T, 907G, 1002G BGMUT_489 commonName A9 Xhosa, Africa BGMUT_489 protEffect P124S; R303G; L334L BGMUT_49 commonName O20 BGMUT_49 phenoCommon O BGMUT_49 protEffect F216I; V277M BGMUT_490 alias FUT6 879T, 971T, 1002G BGMUT_490 commonName A10 Xhosa, Africa BGMUT_490 protEffect D293D; T324M; L334L BGMUT_491 alias FUT6 855A, 1002G BGMUT_491 commonName A11 Japan, Europe, Xhosa, Africa BGMUT_491 protEffect P285P; L334L BGMUT_492 alias FUT6 370T, 739A, 1002G BGMUT_492 commonName B1 Xhosa, Africa BGMUT_492 protEffect P124S; E247K; L334L BGMUT_493 alias FUT6 370T, 739A, 945A, 1002G BGMUT_493 commonName B2 Xhosa, Africa BGMUT_493 protEffect P124S; E247K; Y315X BGMUT_494 alias FUT6 18A, 336A, 499insC, 855A, 1002G BGMUT_494 commonName B3 Xhosa, Africa BGMUT_494 protEffect P6P; V112V; 167fs BGMUT_495 alias FUT6 18A, 336A, 499insC, 855A, 977A, 1002G BGMUT_495 commonName B4 Xhosa, Africa BGMUT_495 protEffect P6P; V112V; 167fs BGMUT_497 commonName FUT7 329A BGMUT_497 protEffect R110E BGMUT_498 alias LU 230A BGMUT_498 commonName LUA, LU1 BGMUT_498 phenoCommon Lu(a + b-) or Lu(a + b +) BGMUT_498 protEffect R77H BGMUT_499 alias Lu 1615A BGMUT_499 commonName AUA, LU18 BGMUT_499 phenoCommon Au(a + b-) or Au(a + b +) BGMUT_499 protEffect A539T BGMUT_5 commonName A103 BGMUT_5 phenoCommon A1 BGMUT_5 protEffect P156L; none BGMUT_50 alias O21 exonic BGMUT_50 commonName O21 BGMUT_50 phenoCommon O BGMUT_50 protEffect fs + truncation BGMUT_502 alias LU 524A BGMUT_502 commonName LU--4 BGMUT_502 phenoCommon Lu-4 BGMUT_502 protEffect R175Q BGMUT_503 alias LU 326A BGMUT_503 commonName LU-5 BGMUT_503 phenoCommon Lu-5 BGMUT_503 protEffect R109H BGMUT_504 alias LU 824T BGMUT_504 commonName LU9 BGMUT_504 phenoCommon Lu9 BGMUT_504 protEffect S275F BGMUT_505 alias LU 1878T BGMUT_505 commonName LU-11 BGMUT_505 phenoCommon Lu-11 BGMUT_505 protEffect D626D BGMUT_506 alias LU 611A BGMUT_506 commonName LU14 BGMUT_506 phenoCommon Lu14 BGMUT_506 protEffect M204K BGMUT_507 alias LU 99-104del BGMUT_507 commonName LU-12 99del BGMUT_507 phenoCommon Lu-12 BGMUT_507 protEffect R34; L35del BGMUT_508 alias LU 419A BGMUT_508 commonName LU-12 419A BGMUT_508 phenoCommon Lu-12 BGMUT_508 protEffect R140Q BGMUT_509 commonName LU-13 BGMUT_509 phenoCommon Lu-13 BGMUT_509 protEffect S447L; Q581L BGMUT_51 alias O21 intronic BGMUT_51 commonName O21 BGMUT_51 phenoCommon O BGMUT_510 alias LU 679T BGMUT_510 commonName LU-16 BGMUT_510 phenoCommon Lu-16 BGMUT_510 protEffect R227C BGMUT_511 commonName LU-17 BGMUT_511 phenoCommon Lu-17 BGMUT_511 protEffect E114K BGMUT_512 alias LU 905T BGMUT_512 commonName LU-20 BGMUT_512 phenoCommon Lu-20 BGMUT_512 protEffect T302M BGMUT_513 alias LU 282G BGMUT_513 commonName LU-21 BGMUT_513 phenoCommon Lu-21 BGMUT_513 protEffect D94E BGMUT_514 commonName LU 711A BGMUT_514 phenoCommon Lu a-b- BGMUT_514 protEffect C237X BGMUT_516 alias LW 299G; LW7 BGMUT_516 commonName LWB BGMUT_516 phenoCommon LW(a-b+) or LW(a+b+) BGMUT_516 protEffect Q100R BGMUT_517 alias LW 346del BGMUT_517 commonName LW Big BGMUT_517 phenoCommon LW(a-b-) BGMUT_517 protEffect 116del; 118X BGMUT_519 alias BSG 370T BGMUT_519 commonName OK1 BGMUT_519 phenoCommon Ok(a +) BGMUT_519 protEffect none BGMUT_52 commonName O22 BGMUT_52 phenoCommon O BGMUT_52 protEffect 88fs + truncation BGMUT_520 alias BSG 274A BGMUT_520 commonName OK2 BGMUT_520 phenoCommon Ok(a-) BGMUT_520 protEffect E92K BGMUT_521 alias BSG 176T,195T,234G BGMUT_521 commonName OK (SM) BGMUT_521 phenoCommon Ok(a-) BGMUT_521 protEffect G59V BGMUT_522 alias BSG 327C BGMUT_522 commonName OK3 BGMUT_522 phenoCommon OK(a +) BGMUT_522 protEffect none BGMUT_524 alias p 68insT BGMUT_524 commonName A4GALT 68insT BGMUT_524 phenoCommon p BGMUT_524 protEffect L23fs; 53X BGMUT_525 alias p 237 delCTT BGMUT_525 commonName A4GALT 237 delCTT BGMUT_525 phenoCommon p BGMUT_525 protEffect F80del BGMUT_526 alias p 241 delTTC BGMUT_526 commonName A4GALT 241 delTTC BGMUT_526 phenoCommon p BGMUT_526 protEffect F81del BGMUT_527 alias p 287A BGMUT_527 commonName A4GALT 287A BGMUT_527 phenoCommon p BGMUT_527 protEffect C96Y BGMUT_528 alias p 109G; 290T BGMUT_528 commonName A4GALT 109G; 290T BGMUT_528 phenoCommon p BGMUT_528 protEffect S97L; M37V; T329T BGMUT_529 alias p 300delG BGMUT_529 commonName A4GALT 300delG BGMUT_529 phenoCommon p BGMUT_529 protEffect 101fs BGMUT_53 commonName O23 BGMUT_53 phenoCommon O BGMUT_53 protEffect 88fs + truncation BGMUT_530 alias p 470ins BGMUT_530 commonName A4GALT 470ins BGMUT_530 phenoCommon p BGMUT_530 protEffect 157fs BGMUT_531 alias p 473A BGMUT_531 commonName A4GALT 473A BGMUT_531 phenoCommon p BGMUT_531 protEffect W158X BGMUT_532 alias p 502insC, 914T BGMUT_532 commonName A4GALT 502insC, 914T BGMUT_532 phenoCommon p BGMUT_532 protEffect 167fs; 281X; P305P BGMUT_533 alias p 548A BGMUT_533 commonName A4GALT 548A BGMUT_533 phenoCommon p BGMUT_533 protEffect M183K BGMUT_534 alias p 548A, 987A BGMUT_534 commonName A4GALT 548A, 987A BGMUT_534 phenoCommon p BGMUT_534 protEffect M183K BGMUT_535 alias p 560A BGMUT_535 commonName A4GALT 560A BGMUT_535 phenoCommon p BGMUT_535 protEffect G187D BGMUT_536 alias p 656T BGMUT_536 commonName A4GALT 656T BGMUT_536 phenoCommon p BGMUT_536 protEffect A219V BGMUT_537 alias p 657delG BGMUT_537 commonName A4GALT 657delG BGMUT_537 phenoCommon p BGMUT_537 protEffect A219fs; 348X BGMUT_538 alias p 733insG, 903G BGMUT_538 commonName A4GALT 733insG, 903G BGMUT_538 phenoCommon p BGMUT_538 protEffect 245fs; P301P BGMUT_539 alias p 751T BGMUT_539 commonName A4GALT 751T BGMUT_539 phenoCommon p BGMUT_539 protEffect P251S BGMUT_54 commonName O24 BGMUT_54 phenoCommon O BGMUT_54 protEffect 88fs + truncation BGMUT_540 alias p 752T BGMUT_540 commonName A4GALT 752T BGMUT_540 phenoCommon p BGMUT_540 protEffect P251L BGMUT_541 alias p 752T, 903G BGMUT_541 commonName A4GALT 752T, 903G BGMUT_541 phenoCommon p BGMUT_541 protEffect P251L; P301P BGMUT_542 alias p 109G, 903G, 987A BGMUT_542 commonName A4GALT 109G, 903G, 987A BGMUT_542 phenoCommon p BGMUT_542 protEffect M37V; P301 P; T329T BGMUT_543 alias p 972-997del BGMUT_543 commonName A4GALT 972-997del BGMUT_543 phenoCommon p BGMUT_543 protEffect 331fs; extra 83 aa residues BGMUT_544 alias p 972-997del, 109G, 903G BGMUT_544 commonName A4GALT 972-997del, 109G, 903G BGMUT_544 phenoCommon p BGMUT_544 protEffect 331fs: extra 83 aa residues; M37V; P301P BGMUT_545 alias p 769delG, 903G BGMUT_545 commonName A4GALT 769delG, 903G BGMUT_545 phenoCommon p BGMUT_545 protEffect 256fs BGMUT_546 alias p 783A BGMUT_546 commonName A4GALT 783A BGMUT_546 phenoCommon p BGMUT_546 protEffect W261X BGMUT_547 alias p 902 delC BGMUT_547 commonName A4GALT 902 delC BGMUT_547 phenoCommon p BGMUT_547 protEffect 301fs; 349X BGMUT_548 alias p 1026insC BGMUT_548 commonName A4GALT 1026insC BGMUT_548 phenoCommon p BGMUT_548 protEffect 342fs BGMUT_549 alias P2 -550insC BGMUT_549 commonName A4GALT -550insC BGMUT_549 phenoCommon P2 BGMUT_549 protEffect none BGMUT_55 commonName O25 BGMUT_55 phenoCommon O BGMUT_55 protEffect 88fs + truncation BGMUT_550 alias P2 -160G BGMUT_550 commonName A4GALT -160G BGMUT_550 phenoCommon P2 BGMUT_550 protEffect none BGMUT_552 commonName B3GALT3 202T BGMUT_552 phenoCommon P2k BGMUT_552 protEffect 67X BGMUT_553 commonName B3GALT3 292-293insT BGMUT_553 phenoCommon P1k BGMUT_553 protEffect 97fs; 102X BGMUT_554 commonName B3GALT3 433T BGMUT_554 phenoCommon P1k BGMUT_554 protEffect R145X BGMUT_555 commonName B3GALT3 538insA BGMUT_555 phenoCommon P2k BGMUT_555 protEffect 180fs; 182X BGMUT_556 commonName B3GALT3 648C BGMUT_556 phenoCommon P1k BGMUT_556 protEffect R216S BGMUT_557 commonName B3GALT3 797C BGMUT_557 phenoCommon P2k BGMUT_557 protEffect E266A BGMUT_558 commonName B3GALT3 811A BGMUT_558 phenoCommon P1k BGMUT_558 protEffect G271R BGMUT_559 commonName B3GALT3 959A BGMUT_559 phenoCommon P1k BGMUT_559 protEffect W319X BGMUT_56 alias Ovar.tlse02; O26 exonic BGMUT_56 commonName O26 BGMUT_56 phenoCommon O BGMUT_56 protEffect 88fs + truncation BGMUT_563 alias RHD 1060A BGMUT_563 commonName RHD II BGMUT_563 phenoCommon DII BGMUT_563 protEffect A354N BGMUT_564 alias RHD 455C; 602G; 667G BGMUT_564 commonName RHD IIIa BGMUT_564 phenoCommon DIIIa BGMUT_564 protEffect N152T; T201R; F223V BGMUT_567 alias RHD 186T, 410T, 455C BGMUT_567 commonName RHD III type 4 BGMUT_567 phenoCommon DIII type4 BGMUT_567 protEffect L62F; A137V; N152T BGMUT_568 commonName RHD III type 5 BGMUT_568 phenoCommon DIII type5 BGMUT_568 protEffect L62F; A137V; N152T; T201R; F223V BGMUT_570 alias RHD (186T, 455C, 1048C) BGMUT_570 commonName RHD IVa BGMUT_570 phenoCommon DIVa BGMUT_570 protEffect L62F; N152T; D350H BGMUT_573 alias RHD 667G, 697C BGMUT_573 commonName RHD BGMUT_573 phenoCommon DVa BGMUT_573 protEffect F223V; E233Q BGMUT_575 commonName RHD Va 2 BGMUT_575 phenoCommon DVa BGMUT_575 protEffect F223V; E233Q; V238M; V425L BGMUT_576 alias RHD 697A BGMUT_576 commonName RHD Va 3 BGMUT_576 phenoCommon DVa BGMUT_576 protEffect E233Q BGMUT_58 commonName O27 BGMUT_58 phenoCommon O BGMUT_58 protEffect 88fs + truncation BGMUT_580 alias RHD 329C BGMUT_580 commonName RHD VII BGMUT_580 phenoCommon DVII BGMUT_580 protEffect L110P BGMUT_581 alias RHD 307C, 329C BGMUT_581 commonName RHD VII-like BGMUT_581 phenoCommon DVII-like BGMUT_581 protEffect S103P; L110P BGMUT_582 alias RHD 602G, 667G, 1025C BGMUT_582 commonName RHD DAR BGMUT_582 phenoCommon DAR BGMUT_582 protEffect T201R; F223V; I342T BGMUT_583 alias RHD 505C, 509G, 514T (RHD1-3 CE4 D5-10) BGMUT_583 commonName RHD DFR-1 BGMUT_583 phenoCommon DFR BGMUT_583 protEffect M169L; M170R; I172F BGMUT_587 alias RHD 848T BGMUT_587 commonName RHD DHMi BGMUT_587 phenoCommon DHMi BGMUT_587 protEffect T283I BGMUT_588 alias RHD 854A BGMUT_588 commonName RHD DIM BGMUT_588 phenoCommon DIM BGMUT_588 protEffect C285Y BGMUT_589 alias RHD 1057A BGMUT_589 commonName RHD DNU (DNB) BGMUT_589 phenoCommon DNU (DNB) BGMUT_589 protEffect G353R BGMUT_59 commonName O28 BGMUT_59 phenoCommon O BGMUT_59 protEffect 88fs + truncation BGMUT_590 alias RHD 497C BGMUT_590 commonName RHD DFW BGMUT_590 phenoCommon DFW BGMUT_590 protEffect H166P BGMUT_591 alias RHD 1063A BGMUT_591 commonName RHD DNB BGMUT_591 phenoCommon DNB BGMUT_591 protEffect G355S BGMUT_592 alias RHD 621C BGMUT_592 commonName RHD DMA BGMUT_592 phenoCommon DMA BGMUT_592 protEffect L207F BGMUT_593 alias RHD 1073T BGMUT_593 commonName RHD DWI BGMUT_593 phenoCommon DWI BGMUT_593 protEffect M358T BGMUT_594 alias RHD 680C BGMUT_594 commonName RHD DBA BGMUT_594 phenoCommon DBA BGMUT_594 protEffect L227P BGMUT_595 alias RHD 851T BGMUT_595 commonName RHD DLO BGMUT_595 phenoCommon DLO BGMUT_595 protEffect S284L BGMUT_596 commonName RHD 384C BGMUT_596 protEffect no change BGMUT_598 alias RHD 8G BGMUT_598 commonName RHD weak D type 3 BGMUT_598 phenoCommon weak D(Du) type 3 BGMUT_598 protEffect S3C BGMUT_599 alias RHD 29A BGMUT_599 commonName RHD weak D(Du) type 6 BGMUT_599 phenoCommon weak D(Du) type 6 BGMUT_599 protEffect R10Q BGMUT_6 commonName A104 BGMUT_6 phenoCommon A1 BGMUT_6 protEffect T99T BGMUT_60 commonName O29 BGMUT_60 phenoCommon O BGMUT_60 protEffect 88fs + truncation BGMUT_600 alias RHD 446A BGMUT_600 commonName RHD weak D(Du) type 5 BGMUT_600 phenoCommon weak D(Du) type5 BGMUT_600 protEffect A149D BGMUT_601 alias RHD 658C BGMUT_601 commonName RHD weak D type 16 BGMUT_601 phenoCommon weak D(Du) type16 BGMUT_601 protEffect W220R BGMUT_602 alias RHD 809G BGMUT_602 commonName RHD weak D type 1 BGMUT_602 phenoCommon weak D(Du) type 1 BGMUT_602 protEffect V270G BGMUT_603 alias RHD 826C BGMUT_603 commonName RHD weak D type 13 BGMUT_603 phenoCommon weak D(Du) type 13 BGMUT_603 protEffect A276P BGMUT_604 alias RHD 830A BGMUT_604 commonName RHD weak D type 12 BGMUT_604 phenoCommon weak D(Du) type 12 BGMUT_604 protEffect G277E BGMUT_605 alias RHD 845A BGMUT_605 commonName RHD weak D type 15 BGMUT_605 phenoCommon weak D(Du) type 15 BGMUT_605 protEffect G282D BGMUT_606 alias RHD 880C BGMUT_606 commonName RHD weak D(Du) type 9 BGMUT_606 phenoCommon weak D(Du) type 9 BGMUT_606 protEffect A294P BGMUT_607 alias RHD 885 BGMUT_607 commonName RHD weak D type 11 BGMUT_607 phenoCommon weak D(Du) type 11 BGMUT_607 protEffect M295I BGMUT_608 alias RHD 919A BGMUT_608 commonName RHD weak D(Du) type 8 BGMUT_608 phenoCommon weak D(Du) type 8 BGMUT_608 protEffect G307R BGMUT_609 alias RHD 1016A BGMUT_609 commonName RHD weak D(Du) type 7 BGMUT_609 phenoCommon weak D(Du) type 7 BGMUT_609 protEffect G339E BGMUT_61 commonName O30 BGMUT_61 phenoCommon O BGMUT_61 protEffect 88fs + truncation BGMUT_610 alias RHD 1154A BGMUT_610 commonName RHD weak D type 2 BGMUT_610 phenoCommon weak D(Du) type 2 BGMUT_610 protEffect G385A BGMUT_611 alias RHD 1177C BGMUT_611 commonName RHD weak D type 10 BGMUT_611 phenoCommon weak D(Du) type 10 BGMUT_611 protEffect W393R BGMUT_612 alias RHD 602G, 667G BGMUT_612 commonName RHD weak D type 4 a BGMUT_612 phenoCommon weak D(Du) type 4 BGMUT_612 protEffect T201R; F223V BGMUT_613 commonName RHD weak D type 4 b BGMUT_613 phenoCommon weak D(Du) type 4 BGMUT_613 protEffect T201R; F223V BGMUT_614 commonName RHD weak D type 4. 1 BGMUT_614 phenoCommon weak D(Du) type 4. 1 BGMUT_614 protEffect W16C; T201R; F223V BGMUT_615 commonName RHD weak D type 4. 21 BGMUT_615 phenoCommon weak D(Du) type 4. 21 BGMUT_615 protEffect T201R; F223V; I342T BGMUT_616 commonName RHD weak D(Du) type 4. 22 BGMUT_616 phenoCommon weak D(Du) type 4. 22 BGMUT_616 protEffect T201R; F223V; I342T BGMUT_617 alias RHD 340T BGMUT_617 commonName RHD weak D type 17 BGMUT_617 phenoCommon weak D(Du) type 17 BGMUT_617 protEffect R114W BGMUT_618 commonName RHD weak D type 29 BGMUT_618 phenoCommon weak D(Du) type 29 BGMUT_618 protEffect I60L; S68N; K198N; F223V; I342T BGMUT_619 commonName RHD weak D type 14 BGMUT_619 phenoCommon weak D(Du) type 14 BGMUT_619 protEffect S182T; K198N; T201R BGMUT_62 commonName O31 BGMUT_62 phenoCommon O BGMUT_62 protEffect 88fs + truncation BGMUT_620 alias RHD 634T BGMUT_620 commonName RHD weak D type 23 BGMUT_620 phenoCommon weak D type 23 BGMUT_620 protEffect G212C BGMUT_621 alias RHD 1013C BGMUT_621 commonName RHD weak D type 24 BGMUT_621 phenoCommon weak D type 24 BGMUT_621 protEffect L338P BGMUT_622 alias RHD 26A BGMUT_622 commonName RHD weak D type 26 BGMUT_622 phenoCommon weakD type 26 BGMUT_622 protEffect V9D BGMUT_623 alias RHD 399T BGMUT_623 commonName RHD weak D type 37 BGMUT_623 phenoCommon weak D type 37 BGMUT_623 protEffect K133N BGMUT_624 alias RHD 833A BGMUT_624 commonName RHD weak D type 38 BGMUT_624 phenoCommon weak D type 38 BGMUT_624 protEffect G278E BGMUT_625 alias RHD 1015A BGMUT_625 commonName RHD weak D type 39 BGMUT_625 phenoCommon weak D type 39 BGMUT_625 protEffect G339R BGMUT_626 alias RHD 520A BGMUT_626 commonName RHD weak D type33 (Taiwan1) BGMUT_626 phenoCommon weak D Taiwan 1 BGMUT_626 protEffect V174M BGMUT_627 alias RHD 809A BGMUT_627 commonName RHD weak D type Taiwan2 BGMUT_627 phenoCommon weak D Taiwan 2 BGMUT_627 protEffect V270M BGMUT_628 alias RHD 1136T BGMUT_628 commonName RHD DAU-0 BGMUT_628 phenoCommon DAU-0 (European) BGMUT_628 protEffect T379M BGMUT_629 alias RHD 579A, 1136T BGMUT_629 commonName RHD DAU-0. 1 BGMUT_629 phenoCommon DAU-0. 1(African) BGMUT_629 protEffect T379M BGMUT_63 commonName O32 BGMUT_63 phenoCommon O BGMUT_63 protEffect 88fs + truncation BGMUT_630 alias RHD 689T, 1136T BGMUT_630 commonName RHD DAU-1 BGMUT_630 phenoCommon DAU-1 (African) BGMUT_630 protEffect S230I; T379M BGMUT_631 alias RHD 209A, 998A, 1136T BGMUT_631 commonName RHD DAU-2 BGMUT_631 phenoCommon DAU-2 (African) BGMUT_631 protEffect R70Q; S333N; T379M BGMUT_632 alias RHD 835A, 1136T BGMUT_632 commonName RHD DAU-3 BGMUT_632 phenoCommon DAU-3 (African) BGMUT_632 protEffect V279M; T379M BGMUT_633 alias RHD 697A, 1136T BGMUT_633 commonName RHD DAU- 4 BGMUT_633 phenoCommon DAU-4 (African) BGMUT_633 protEffect E233K; T379M BGMUT_637 alias RHD 121T BGMUT_637 commonName RHD neg2 BGMUT_637 phenoCommon D negative BGMUT_637 protEffect Q41X BGMUT_639 alias RHD 600delG BGMUT_639 commonName RHD neg4 BGMUT_639 phenoCommon D negative BGMUT_639 protEffect 228X BGMUT_64 commonName O33 BGMUT_64 phenoCommon O BGMUT_64 protEffect 88fs + truncation BGMUT_645 alias RHD 47A BGMUT_645 commonName RHD neg(Cde)3 BGMUT_645 phenoCommon D negative (Cde) BGMUT_645 protEffect W16X BGMUT_646 alias RHD 635T BGMUT_646 commonName RHD neg(Cde)4 BGMUT_646 phenoCommon D negative (Cde) BGMUT_646 protEffect G212V BGMUT_647 alias RHD intron 8 1A BGMUT_647 commonName RHD neg(Cde)5 BGMUT_647 phenoCommon D negative (Cde) BGMUT_648 alias RHD 269A BGMUT_648 commonName RHD neg6 BGMUT_648 phenoCommon D negative BGMUT_648 protEffect W90X BGMUT_65 commonName O34 BGMUT_65 phenoCommon O BGMUT_65 protEffect 88fs + truncation BGMUT_650 alias RHD 906ins BGMUT_650 commonName RHD neg8 BGMUT_650 phenoCommon D negative BGMUT_650 protEffect fs BGMUT_651 alias RHD 933A BGMUT_651 commonName RHD neg9 BGMUT_651 phenoCommon D neg BGMUT_651 protEffect 311X BGMUT_652 alias RHD intron 2 1A BGMUT_652 commonName RHD neg10 BGMUT_652 phenoCommon D neg BGMUT_652 protEffect exon2 is absent BGMUT_653 alias RHD 554A BGMUT_653 commonName RHD neg11 BGMUT_653 phenoCommon D neg BGMUT_653 protEffect W185X BGMUT_657 alias RHD 1222C BGMUT_657 commonName RHD DEL BGMUT_657 phenoCommon D-el BGMUT_657 protEffect W408R BGMUT_658 alias RHD intron 3 1A BGMUT_658 commonName RHD DEL (Cde)1 BGMUT_658 phenoCommon D-el (CDe); minimal expression of D antigen; D negative -like by serology. BGMUT_658 protEffect none BGMUT_659 alias RHD 885T BGMUT_659 commonName RHD DEL (Cde)2 BGMUT_659 phenoCommon D-el (CDe); minimal expression of D antigen; D negative -like by serology. BGMUT_659 protEffect M295I BGMUT_66 alias Ovar1 BGMUT_66 commonName O35 BGMUT_66 phenoCommon O BGMUT_66 protEffect V36F R63H P74S 88fs + truncation BGMUT_660 alias RHD intron 9 1A; 1227A BGMUT_660 commonName RHD DEL (Cde)3 TP53_g.12487_12488del commonName del2 BGMUT_660 phenoCommon D-el (CDe); minimal expression of D antigen; D negative -like by serology. BGMUT_660 protEffect K409K BGMUT_661 alias RHD intron 5 38del CTCT BGMUT_661 commonName RHD DEL (Cde)4 BGMUT_661 phenoCommon D-el (Cde); minimal expression of D antigen; D negative -like by serology. BGMUT_661 protEffect none BGMUT_662 alias RHD 1252insT BGMUT_662 commonName RHD DEL (Cde)5 BGMUT_662 phenoCommon D-el (Cde); minimal expression of D antigen; D negative -like by serology. BGMUT_662 protEffect X418L BGMUT_663 alias RHD 1203A BGMUT_663 commonName RHD DEL (Cde)6 BGMUT_663 phenoCommon D-el (Cde); minimal expression of D antigen; D negative -like by serology. BGMUT_663 protEffect Y401X BGMUT_668 alias RHCE 500A BGMUT_668 commonName RHCE EI,Ew BGMUT_668 phenoCommon EI;Ew BGMUT_668 protEffect M167K BGMUT_67 alias Ovar2 BGMUT_67 commonName O36 BGMUT_67 phenoCommon O BGMUT_67 protEffect V36F R63H P74S 88fs + truncation BGMUT_671 alias RHcE 697G, 712G BGMUT_671 commonName RHCE EIII BGMUT_671 phenoCommon EIII BGMUT_671 protEffect Q233E; M238V BGMUT_673 alias RHCE 733G BGMUT_673 commonName RHCE VS BGMUT_673 phenoCommon VS BGMUT_673 protEffect L245V BGMUT_674 alias RHCE 106A BGMUT_674 commonName RHCE CX BGMUT_674 phenoCommon CX BGMUT_674 protEffect A36T BGMUT_675 alias RHcE 602C BGMUT_675 commonName RHCE EIV BGMUT_675 phenoCommon EIV BGMUT_675 protEffect R201T BGMUT_676 alias RHCE 461C BGMUT_676 commonName RHCE EV/EKH; also RHCE ceRT BGMUT_676 phenoCommon EV/EKH; also ceRT, expresses D epitope 6 BGMUT_676 protEffect R154T BGMUT_677 alias RHCE122G BGMUT_677 commonName RHCE CW BGMUT_677 phenoCommon CW BGMUT_677 protEffect Q41R BGMUT_678 alias RHce 286A BGMUT_678 commonName RHCE Rh-26 BGMUT_678 phenoCommon ce variant c+Rh:-26 BGMUT_678 protEffect G96S BGMUT_68 commonName O39 BGMUT_68 phenoCommon O BGMUT_68 protEffect P74S; 88fs + truncation BGMUT_680 alias RHce 48C, 712G, 733G, 787G, 800A, 916G BGMUT_680 commonName RHce ceAR BGMUT_680 phenoCommon ceAR BGMUT_680 protEffect W16C; M239V; L245V; R263G; M267K; I306V BGMUT_681 alias Rhce 48C, 667T BGMUT_681 commonName Rhce ceMO BGMUT_681 phenoCommon ceMO (hrS-neg; altered expression of e) BGMUT_681 protEffect W16C; V223F BGMUT_69 commonName O40 BGMUT_69 phenoCommon O BGMUT_69 protEffect V36F; R63H; 88fs + truncation BGMUT_691 alias RHCE 685-687del BGMUT_691 commonName RHCE Dc-ceBP BGMUT_691 phenoCommon Dc-ceBP BGMUT_691 protEffect R229del BGMUT_696 alias RHcE 350-358del BGMUT_696 commonName RHCE-cEMI BGMUT_696 phenoCommon cEMI (silent RHE) BGMUT_696 protEffect A120-S122del BGMUT_698 alias RHCE intron 4: 1T BGMUT_698 commonName RHCE null amorph 2 BGMUT_698 phenoCommon Rh null amorph BGMUT_699 alias RHce 80-84del BGMUT_699 commonName RHCE null amorph 3 BGMUT_699 phenoCommon Rh null amorph BGMUT_699 protEffect L31X BGMUT_7 commonName A105 BGMUT_7 phenoCommon A1 BGMUT_7 protEffect P156L BGMUT_70 alias O1-vB, tlse13 BGMUT_70 commonName O41 BGMUT_70 phenoCommon O BGMUT_70 protEffect 88fs + truncation BGMUT_702 alias RHAG 236A BGMUT_702 commonName RH mod (VL) BGMUT_702 phenoCommon Rh mod (VL) BGMUT_702 protEffect S79N BGMUT_703 alias RHAG 3T BGMUT_703 commonName RH mod (SM) BGMUT_703 phenoCommon Rh mod (SM) BGMUT_703 protEffect M1I BGMUT_704 alias RHAG 1183delA BGMUT_704 commonName RH mod (Japan) BGMUT_704 phenoCommon Rh mod (Japanese) BGMUT_704 protEffect N395fs BGMUT_705 alias RHAG 836A BGMUT_705 commonName RH null reg (YT) BGMUT_705 phenoCommon Rh null (YT) reg BGMUT_705 protEffect G279E BGMUT_706 alias RHAG 808A, 838A BGMUT_706 commonName RH null reg (HT) BGMUT_706 phenoCommon Rh null (HT) reg BGMUT_706 protEffect V270I; G280R BGMUT_707 commonName RH null reg (AC) BGMUT_707 phenoCommon Rh null (AC) reg BGMUT_707 protEffect Exon 7 skipped. BGMUT_709 commonName RH null reg (AL) BGMUT_709 phenoCommon Rh null (AL) reg BGMUT_709 protEffect protein not expressed BGMUT_71 alias O1-vB, tlse14 BGMUT_71 commonName O42 BGMUT_71 phenoCommon O BGMUT_71 protEffect 88fs + truncation BGMUT_710 alias RHAG intron 7 1A BGMUT_710 commonName RH null reg (TT) BGMUT_710 phenoCommon Rh null (TT) reg BGMUT_711 alias RHAG 1139T BGMUT_711 commonName RH null reg (WO) BGMUT_711 phenoCommon Rh null (WO) reg BGMUT_711 protEffect G380V BGMUT_712 commonName RhCe polypeptide; Rh30 BGMUT_712 phenoCommon RhCe BGMUT_712 protEffect W16C; L60I; N68S; P103S BGMUT_713 commonName RhCE polypeptide; Rh30 BGMUT_713 phenoCommon RhCE BGMUT_713 protEffect W16C; L60I; N68S; P103S; A226P BGMUT_714 alias RHcE 676C BGMUT_714 commonName RhcE polypeptide; Rh30 BGMUT_714 phenoCommon RhcE BGMUT_714 protEffect A226P BGMUT_72 alias Ov7.1 BGMUT_72 commonName O43 BGMUT_72 phenoCommon O BGMUT_72 protEffect 88fs + truncation BGMUT_724 alias XK intron 2 5A BGMUT_724 commonName XK (MD) BGMUT_724 phenoCommon McLeod syndrome BGMUT_724 protEffect none BGMUT_725 alias XK 268del BGMUT_725 commonName XK (L) BGMUT_725 phenoCommon McLeod syndrome BGMUT_725 protEffect Y90fs BGMUT_726 alias XK intron 1 1C BGMUT_726 commonName XK (non-CGD) BGMUT_726 phenoCommon McLeod syndrome BGMUT_726 protEffect no protein (on membrane) BGMUT_73 alias Ov7.2 BGMUT_73 commonName O44 BGMUT_73 phenoCommon O BGMUT_73 protEffect 88fs + truncation BGMUT_735 alias XK 686del BGMUT_735 commonName XK 1 BGMUT_735 phenoCommon McLeod syndrome BGMUT_735 protEffect 229fs + 264X BGMUT_736 alias XK 771del BGMUT_736 commonName XK 2 BGMUT_736 phenoCommon McLeod syndrome BGMUT_736 protEffect 257fs + 267X BGMUT_737 alias XK 856del BGMUT_737 commonName XK 3 BGMUT_737 phenoCommon McLeod syndrome BGMUT_737 protEffect 286fs + 301X BGMUT_738 alias XK 938del BGMUT_738 commonName XK 4 BGMUT_738 phenoCommon McLeod syndrome BGMUT_738 protEffect 313fs + 336X BGMUT_74 alias Ovar, tlse51 BGMUT_74 commonName O45 BGMUT_74 phenoCommon O BGMUT_74 protEffect 88fs + truncation BGMUT_740 alias XK 1013delT BGMUT_740 commonName XK (Japan 1) BGMUT_740 phenoCommon McLeod syndrome BGMUT_740 protEffect fs + 408X BGMUT_742 alias XK intron 1 1C BGMUT_742 commonName XK (New Mexico; Ohio) BGMUT_742 phenoCommon McLeod syndrome BGMUT_743 alias XK 107A BGMUT_743 commonName XK 6 BGMUT_743 phenoCommon McLeod syndrome BGMUT_743 protEffect W36X BGMUT_744 alias XK 397T BGMUT_744 commonName XK 7 BGMUT_744 phenoCommon McLeod syndrome BGMUT_744 protEffect R133X BGMUT_745 alias XK 155X BGMUT_745 commonName XK 8 BGMUT_745 phenoCommon McLeod syndrome BGMUT_745 protEffect Q155X BGMUT_746 alias XK 236X BGMUT_746 commonName XK 9 BGMUT_746 phenoCommon McLeod syndrome BGMUT_746 protEffect W236X BGMUT_747 alias XK 880C BGMUT_747 commonName XK 10 BGMUT_747 phenoCommon McLeod syndrome BGMUT_747 protEffect C294R BGMUT_748 alias XK 895T BGMUT_748 commonName XK (Switzerland 1) BGMUT_748 phenoCommon McLeod syndrome BGMUT_748 protEffect Q299X BGMUT_749 alias XK 664G BGMUT_749 commonName XK (NYC) BGMUT_749 phenoCommon McLeod syndrome BGMUT_749 protEffect R222G BGMUT_75 alias Ovar, tlse52 BGMUT_75 commonName O46 BGMUT_75 phenoCommon O BGMUT_75 protEffect 88fs + truncation BGMUT_750 alias XK 11 BGMUT_750 commonName XK 11 BGMUT_750 phenoCommon McLeod syndrome BGMUT_750 protEffect W314X BGMUT_751 alias XK 979A BGMUT_751 commonName XK (Switzerland 2) BGMUT_751 phenoCommon McLeod BGMUT_751 protEffect E327K BGMUT_752 alias XK 39del BGMUT_752 commonName XK (Brazil) BGMUT_752 phenoCommon McLeod syndrome BGMUT_752 protEffect no protein BGMUT_754 alias Sc 169A BGMUT_754 commonName Sc -2 BGMUT_754 phenoCommon Sc: -1, 2 BGMUT_754 protEffect G57R BGMUT_755 commonName Sc null 1 BGMUT_755 phenoCommon Sc: -1, -2 BGMUT_755 protEffect none; H26Y; 113fs BGMUT_756 alias Rd 178G BGMUT_756 commonName Sc4 BGMUT_756 phenoCommon Rd + BGMUT_756 protEffect P60A BGMUT_757 alias Star; Sc 139A BGMUT_757 commonName Sc -5 BGMUT_757 phenoCommon Sc: 1, -2, 3 BGMUT_757 protEffect E47K BGMUT_759 alias MER 383ins BGMUT_759 commonName MER2 1 BGMUT_759 phenoCommon Mer2 negative with renal failure BGMUT_759 protEffect K127fs + 140X BGMUT_76 alias Ovar, tlse20 BGMUT_76 commonName O47 BGMUT_76 phenoCommon O BGMUT_76 protEffect 88fs + truncation BGMUT_760 alias MER2 533A BGMUT_760 commonName MER2 2 BGMUT_760 phenoCommon Mer2 negative and healthy BGMUT_760 protEffect R178H BGMUT_762 alias O01bantu BGMUT_762 commonName O54 BGMUT_762 phenoCommon O (associated with bantu phenotype) BGMUT_762 protEffect 88fs + truncation BGMUT_764 commonName A bantu 01 BGMUT_764 phenoCommon A bantu BGMUT_764 protEffect exon 4 del; P156L; 354fs + 21 aa BGMUT_765 alias FUT1 293T BGMUT_765 commonName China BGMUT_765 phenoCommon para-Bombay BGMUT_765 protEffect T98M BGMUT_766 commonName A304 BGMUT_766 phenoCommon A3 BGMUT_766 protEffect P156L; R180H; 354fs + 21aa BGMUT_77 alias O2-2 BGMUT_77 commonName O48 BGMUT_77 phenoCommon O BGMUT_77 protEffect P74S; R176G; R217C; G229D; G268R; BGMUT_771 commonName A208 BGMUT_771 phenoCommon A2 BGMUT_771 protEffect P156L; R180P BGMUT_772 commonName FUT1 682G BGMUT_772 phenoCommon para-Bombay BGMUT_772 protEffect M228V BGMUT_773 alias RHD 636T BGMUT_773 commonName RHD DUC-1 BGMUT_773 phenoCommon DUC-1; CcDee BGMUT_773 protEffect G212G BGMUT_774 alias RHD 667D, 697C, 1136T BGMUT_774 commonName RHD DAU-5 BGMUT_774 phenoCommon DAU-5; ccDee BGMUT_774 protEffect F223V; E233Q; T379M BGMUT_775 alias RHD 700T BGMUT_775 commonName RHD DQC or DYU BGMUT_775 phenoCommon DQC; ccDee BGMUT_775 protEffect R234W BGMUT_776 alias RHD 733C BGMUT_776 commonName RHD DUC-2 BGMUT_776 phenoCommon DUC-2; ccDEe BGMUT_776 protEffect V245L BGMUT_777 alias RH53; RHCE 365T BGMUT_777 commonName RHCE JAHK; also RHCE ceSL 1 BGMUT_777 phenoCommon JAHK antigen; associated with rG (d(C)(E)) haplotype;RHCE ceSL does not express JAHK, atypical serology BGMUT_777 protEffect S122L BGMUT_778 alias Avar BGMUT_778 commonName Aw10 BGMUT_778 phenoCommon Aw BGMUT_778 protEffect D262N BGMUT_779 alias RHD 998A, 1136T BGMUT_779 commonName RHD DAU-6 BGMUT_779 phenoCommon DAU (similar to DAU-2) BGMUT_779 protEffect S333N; T379M BGMUT_78 alias O2-3 BGMUT_78 commonName O49 BGMUT_78 phenoCommon O BGMUT_78 protEffect P74S; R176G; G229D; G268R; BGMUT_781 alias RHD 667G, 674T BGMUT_781 commonName RHD DTO BGMUT_781 phenoCommon weakD (similar to weak D type4 + RHD pseudo) BGMUT_781 protEffect F223V; S225F BGMUT_782 alias RHD 1226T BGMUT_782 commonName RHD weak D type 42 BGMUT_782 phenoCommon weak D (similar to weak D type 22) BGMUT_782 protEffect K409M BGMUT_783 alias 52G; 809G BGMUT_783 commonName RHD weak D type 1.1 BGMUT_783 phenoCommon very weak D; mistyped as D- or weak D type1 BGMUT_783 protEffect L18V; V270G BGMUT_784 alias 17T BGMUT_784 commonName RHD weak D type 31 BGMUT_784 phenoCommon very weak D BGMUT_784 protEffect P6L BGMUT_785 alias 1121A BGMUT_785 commonName RHD weak D type 32 BGMUT_785 phenoCommon very weak D BGMUT_785 protEffect I134N BGMUT_786 commonName Ael06 BGMUT_786 phenoCommon A weak BGMUT_786 protEffect M142T, P156L BGMUT_79 alias O2-4 BGMUT_79 commonName O50 BGMUT_79 phenoCommon O BGMUT_79 protEffect P74S; T163M; R176G; G268R; BGMUT_790 commonName C1GALT1C1 202T, 393A BGMUT_790 phenoCommon Tn syndrome BGMUT_790 protEffect R68X BGMUT_791 commonName C1GALT1C1 454A BGMUT_791 phenoCommon Tn syndrome BGMUT_791 protEffect E152K BGMUT_792 commonName C1GALT1C1 393A BGMUT_792 phenoCommon Encoded protein retains C1GALT1 chaperone activity leading to the absence of Tn syndrome BGMUT_792 protEffect D131E BGMUT_794 commonName B(A)04 BGMUT_794 phenoCommon Aweak B BGMUT_794 protEffect R176G; M214V; G235S; L266M; G268A; BGMUT_795 commonName B(A)05 BGMUT_795 phenoCommon Aweak B BGMUT_795 protEffect R176G; M214T; G235S; L266M; G268A; BGMUT_797 commonName Ax09 BGMUT_797 phenoCommon Ax BGMUT_797 protEffect P156L; W181C BGMUT_798 commonName A4GALT -550insC; -160G; 987A; 1697A BGMUT_798 phenoCommon P1; P2 BGMUT_798 protEffect none BGMUT_799 commonName A4GALT 109G; 987A BGMUT_799 phenoCommon P1 (observed so far) BGMUT_799 protEffect M37V BGMUT_8 commonName A106 BGMUT_8 phenoCommon A1 BGMUT_8 protEffect none; P156L BGMUT_80 alias O4 BGMUT_80 commonName O51 BGMUT_80 phenoCommon O BGMUT_80 protEffect 29fs BGMUT_800 commonName A4GALT 109G; 987A; 1697A BGMUT_800 phenoCommon P1 (observed so far) BGMUT_800 protEffect M37V BGMUT_801 commonName FUT2 357T, 716A BGMUT_801 phenoCommon Secretor BGMUT_801 protEffect R239Q BGMUT_802 commonName FUT1 328A BGMUT_802 phenoCommon para-Bombay BGMUT_802 protEffect A110T BGMUT_803 commonName FUT1 586T BGMUT_803 phenoCommon para-Bombay BGMUT_803 protEffect 196 Q>X BGMUT_805 commonName FUT1 35T BGMUT_805 phenoCommon none BGMUT_805 protEffect A12V BGMUT_806 alias Sc 54T, 76T, 103A BGMUT_806 commonName Sc -7 (SCAN 54T,76T,103A) BGMUT_806 phenoCommon Sc: 1,-2,3 BGMUT_806 protEffect H26Y; G35S BGMUT_807 commonName Sc null 2 BGMUT_807 phenoCommon Sc: -1,-2,-3 BGMUT_807 protEffect R332X BGMUT_808 alias Sc 242A BGMUT_808 commonName Sc-6 (SCER 242A) BGMUT_808 phenoCommon SC:1,-2,-3 BGMUT_808 protEffect R81Q BGMUT_809 commonName SC null 2A BGMUT_809 phenoCommon Sc: -1,-2,-3 BGMUT_809 protEffect R332X BGMUT_81 alias O5 BGMUT_81 commonName O52 BGMUT_81 phenoCommon O BGMUT_81 protEffect Q108X BGMUT_810 commonName Aw11 BGMUT_810 phenoCommon Aw BGMUT_810 protEffect V175M; R241W BGMUT_812 alias FUT2 357T, 685A BGMUT_812 commonName Se 357,685 BGMUT_812 phenoCommon secretor BGMUT_812 protEffect V229M BGMUT_813 alias FUT2 400A BGMUT_813 commonName Se 400 BGMUT_813 phenoCommon secretor BGMUT_813 protEffect V134I BGMUT_815 alias RHce 48C BGMUT_815 commonName Rhce BGMUT_815 phenoCommon Rhce e variant BGMUT_815 protEffect W16C BGMUT_816 alias O.02.16.1 BGMUT_816 commonName O55 BGMUT_816 protEffect 88fs BGMUT_817 commonName Bw11 BGMUT_817 phenoCommon Bw BGMUT_817 protEffect R176G; L232P; G235S; L266M; G268A BGMUT_818 commonName Ax10 BGMUT_818 phenoCommon Ax BGMUT_818 protEffect P156L; V277M; R337G BGMUT_819 alias O1 variant BGMUT_819 commonName O56 BGMUT_819 phenoCommon O BGMUT_819 protEffect 88fs+truncation BGMUT_82 alias O6 BGMUT_82 commonName O53 BGMUT_82 phenoCommon O BGMUT_82 protEffect W181X BGMUT_820 alias Avar (S#230); A207 (designated by Yip et al.) BGMUT_820 commonName A209 BGMUT_820 phenoCommon A2 BGMUT_820 protEffect P156L; R176H; fs + elongation BGMUT_821 alias Bvar (S#52) BGMUT_821 commonName B108 BGMUT_821 protEffect R176G; G235S; L266M; G268A; A298S BGMUT_822 alias Bvar (S#108) BGMUT_822 commonName B109 BGMUT_822 protEffect R176G; G235S; L266M; G268A BGMUT_823 alias Bvar (S#133,#216) BGMUT_823 commonName B110 (same as Bw14) BGMUT_823 phenoCommon Bw BGMUT_823 protEffect V175M; R176G; G235S; L266M; G268A BGMUT_824 alias Bvar (S#192) BGMUT_824 commonName B111 BGMUT_824 protEffect R178G; G235S; L266M; G268A BGMUT_825 commonName Aw12 BGMUT_825 phenoCommon Aw BGMUT_825 protEffect P156L; M186V BGMUT_826 commonName Bw12 BGMUT_826 phenoCommon Bw BGMUT_826 protEffect P93L; R176G; G235S; L266M; G268A BGMUT_827 alias O.01.11.1 BGMUT_827 commonName O57 BGMUT_827 phenoCommon O BGMUT_827 protEffect 88fs BGMUT_828 commonName Aw13 BGMUT_828 phenoCommon Aw BGMUT_828 protEffect initiator Met codon is disrupted; amino terminally truncated protein BGMUT_829 alias a common haplotype in 5'region BGMUT_829 commonName A4GALT -773G, -770T, -638C, 550insC, -212G, -164C, -160G BGMUT_829 phenoCommon P1, P2 BGMUT_829 protEffect none BGMUT_83 commonName A301 BGMUT_83 phenoCommon A3 BGMUT_83 protEffect D291N BGMUT_832 alias RHD DFV BGMUT_832 commonName RHD 223V BGMUT_832 phenoCommon weak D type 4 BGMUT_832 protEffect F223V BGMUT_833 alias RHD 410T,455C, 602G, 667G, 819A BGMUT_833 commonName RHD III type 6 BGMUT_833 phenoCommon DIII type 6 BGMUT_833 protEffect A137A; N152T; T201R; F223V; A273A BGMUT_835 alias RHD 602G, 667G, 697C, 957A,1025C BGMUT_835 commonName RHD DARE BGMUT_835 phenoCommon related to weak D type 4 BGMUT_835 protEffect T201R; F223V; E233Q; V319V; I342T BGMUT_836 alias RHCE 48C, 105T, 365T BGMUT_836 commonName RHCE ceSL 2 BGMUT_836 phenoCommon ceSL;atypical serology: D antigen expression not associated with D-specific amino acids BGMUT_836 protEffect W16C, S122L BGMUT_837 alias hybrid A102 X O02 BGMUT_837 commonName Ael07 BGMUT_837 phenoCommon Ael BGMUT_837 protEffect P156L; V277M BGMUT_838 alias O217 (designated by authors) BGMUT_838 commonName O58 BGMUT_838 phenoCommon O BGMUT_838 protEffect 88fs + truncation BGMUT_839 alias O103.1 (designated by authors) BGMUT_839 commonName O59 BGMUT_839 phenoCommon O BGMUT_839 protEffect 88fs + truncation BGMUT_84 commonName A302 BGMUT_84 phenoCommon A3 BGMUT_84 protEffect V277M; 354fs BGMUT_840 commonName B305 BGMUT_840 phenoCommon B3 BGMUT_840 protEffect M142T, R176G; G235S; L266M; G268A BGMUT_841 alias GYPC-9 BGMUT_841 commonName GEIS BGMUT_841 phenoCommon GEIS BGMUT_841 protEffect T32N BGMUT_842 alias B (var) BGMUT_842 commonName B306 BGMUT_842 phenoCommon A1B3 in A101/Bvar or A102/Bvar heterozygotes or B in Bvar/O01 heterozygotes BGMUT_842 protEffect R176G; D183N; G235S; L266M; G268A BGMUT_845 alias DO 378T; 624C; 793G; 898G BGMUT_845 commonName DOB WL BGMUT_845 phenoCommon DOb BGMUT_845 protEffect N265D; L300V BGMUT_847 commonName Fut1 661T BGMUT_847 phenoCommon Para-Bombay BGMUT_847 protEffect R221C BGMUT_848 alias RHcE 48C, 538C BGMUT_848 commonName RHce ceRA BGMUT_848 phenoCommon very weak RH5 antigen BGMUT_848 protEffect W16C; G180R BGMUT_85 commonName A303 BGMUT_85 phenoCommon A3 BGMUT_85 protEffect L280F BGMUT_851 alias 1868A; KALT BGMUT_851 commonName KEL29 BGMUT_851 phenoCommon KALT BGMUT_851 protEffect R623K BGMUT_852 alias KEL 913A; KTIM BGMUT_852 commonName KEL30 BGMUT_852 phenoCommon KTIM BGMUT_852 protEffect D305N BGMUT_853 alias RHD 611C BGMUT_853 commonName RHD weak D type 19 BGMUT_853 phenoCommon normal D BGMUT_853 protEffect I204T BGMUT_854 alias RHD 1250C BGMUT_854 commonName RHD weak D type 20 BGMUT_854 phenoCommon normal D BGMUT_854 protEffect F417S BGMUT_855 alias RHce 48C, 697G, 733G; Crawford; RH43 BGMUT_855 commonName RHce ceCF BGMUT_855 phenoCommon ceCF; Crawford antigen (RH43) and VS (RH20) are expressed BGMUT_855 protEffect W16C; Q233E; L245V BGMUT_859 commonName cis-AB05 BGMUT_859 phenoCommon cisAB BGMUT_859 protEffect R176G; G235S; L266M BGMUT_86 commonName Ax01 BGMUT_86 phenoCommon Ax BGMUT_86 protEffect F216I BGMUT_860 alias RHD 3A BGMUT_860 commonName RHD Del (Cde)7 BGMUT_860 phenoCommon Del BGMUT_860 protEffect loss initiation codon BGMUT_861 alias RHD 28T BGMUT_861 commonName RHD Del (Cde)8 BGMUT_861 phenoCommon Del BGMUT_861 protEffect R10W BGMUT_862 alias RHD 53C BGMUT_862 commonName RHD Del(Cde)9 BGMUT_862 phenoCommon Del BGMUT_862 protEffect L18P BGMUT_863 alias RHD 251C BGMUT_863 commonName RHD Del(Cde)10 BGMUT_863 phenoCommon Del BGMUT_863 protEffect L84P BGMUT_864 commonName IGnT C 243A BGMUT_864 phenoCommon adult i in Taiwanese; no congenital cataract BGMUT_864 protEffect N81K BGMUT_865 commonName FUT1 538T; 1089G BGMUT_865 phenoCommon para-Bombay BGMUT_865 protEffect Q180X; A363A BGMUT_866 commonName FUT1 689C BGMUT_866 phenoCommon para-Bombay BGMUT_866 protEffect Q230P BGMUT_867 alias KEL 1899G BGMUT_867 commonName KEL7 - 1 BGMUT_867 phenoCommon Jsb BGMUT_867 protEffect L633L BGMUT_868 alias RHD DVL-1 BGMUT_868 commonName RHD 684-686del BGMUT_868 phenoCommon partial D BGMUT_868 protEffect R229del BGMUT_869 alias RHD DVL-2 BGMUT_869 commonName RHD 705-707del BGMUT_869 phenoCommon partial D BGMUT_869 protEffect K235del BGMUT_87 commonName Ax02 BGMUT_87 phenoCommon Ax BGMUT_87 protEffect F216I; V277M BGMUT_870 alias RHce ceBP BGMUT_870 commonName RHce 685-687del BGMUT_870 phenoCommon altered e and f antigen expression BGMUT_870 protEffect R229del BGMUT_871 commonName FUT1 917T BGMUT_871 phenoCommon most likely para-Bombay BGMUT_871 protEffect T306I BGMUT_872 commonName FUT1 35T, 269T BGMUT_872 phenoCommon para-Bombay BGMUT_872 protEffect A12V; G90V BGMUT_873 commonName FUT2 278T; 357T BGMUT_873 phenoCommon para-Bombay BGMUT_873 protEffect A93V; N119N BGMUT_874 commonName FUT1 422A BGMUT_874 phenoCommon Bombay BGMUT_874 protEffect W141X BGMUT_875 commonName Bel05 BGMUT_875 phenoCommon Bel BGMUT_875 protEffect R176G; G235S; L266M; G268A; V318M BGMUT_876 commonName B(A)06 BGMUT_876 phenoCommon B(A) classified as AwB BGMUT_876 protEffect R176G;G235S;L266M BGMUT_879 commonName SEMA7A 620A BGMUT_879 phenoCommon variant JMH (variant C) BGMUT_879 protEffect R207Q BGMUT_88 commonName Ax03 BGMUT_88 phenoCommon Ax BGMUT_88 protEffect F216I; V277M BGMUT_880 commonName SEMA7A 1379A BGMUT_880 phenoCommon variant JMH (variant U) BGMUT_880 protEffect R460H BGMUT_881 commonName SEMA7A 1381T BGMUT_881 phenoCommon variant JMH (variantP) BGMUT_881 protEffect R461C BGMUT_883 commonName SEMA7A 619T, 1545G BGMUT_883 phenoCommon variant JMH (variant J) BGMUT_883 protEffect R207W; Q515Q BGMUT_884 commonName CR1 4619G BGMUT_884 protEffect N1540S BGMUT_885 commonName SEMA7A 507T BGMUT_885 phenoCommon JMH-negative BGMUT_885 protEffect Y169Y BGMUT_886 commonName SEMA7A 1059T BGMUT_886 phenoCommon JMH-negative BGMUT_886 protEffect G353G BGMUT_887 commonName SEMA7A 1239T BGMUT_887 phenoCommon JMH-negative BGMUT_887 protEffect V413V BGMUT_888 alias RHD 594T;602G BGMUT_888 commonName RHD weak D type 51 BGMUT_888 phenoCommon weak D BGMUT_888 protEffect K198N; T201R BGMUT_889 alias RHD 92C BGMUT_889 commonName RHD weak D type 52 BGMUT_889 phenoCommon weakD BGMUT_889 protEffect F31S BGMUT_89 commonName Ax04 BGMUT_89 phenoCommon Ax BGMUT_89 protEffect F216I BGMUT_890 alias RHD 740G BGMUT_890 commonName RHD weak D type 53 BGMUT_890 phenoCommon weak D BGMUT_890 protEffect V247G BGMUT_891 alias RHD 667G;676C;697C;712A;733C;744T;787A;800T (D1-4 CE5 D6-10) BGMUT_891 commonName RHD V type 2 BGMUT_891 phenoCommon weakD BGMUT_891 protEffect F223V; A226P; E233Q; V238M; V245L; S248S; G263R; K267M BGMUT_892 alias RHD 667G;676C;697C;712A;733C;744T; BGMUT_892 commonName RHD V type 8 BGMUT_892 phenoCommon weak D BGMUT_892 protEffect F223V; A226P; E233Q; V238M; V245L; S248S BGMUT_894 commonName LU 361T BGMUT_894 phenoCommon Lua-b- BGMUT_894 protEffect R121X BGMUT_895 commonName LU 691T BGMUT_895 phenoCommon Lu a-b- BGMUT_895 protEffect R231X BGMUT_896 commonName RHD 325delA BGMUT_896 phenoCommon D neg. BGMUT_896 protEffect T108fs + 118X BGMUT_898 commonName RHce 48C;733G BGMUT_898 protEffect W16C; L245V BGMUT_899 alias KEL intron8 1T BGMUT_899 commonName Ko (Germany 1) BGMUT_899 phenoCommon Kell null BGMUT_899 protEffect protein altered BGMUT_9 alias A201 exonic BGMUT_9 commonName A201 BGMUT_9 phenoCommon A2 BGMUT_9 protEffect P156L; 354fs + 21aa BGMUT_900 alias KEL intron8 1A BGMUT_900 commonName Ko (Austria 1) BGMUT_900 phenoCommon Kell null or 1;-2 BGMUT_900 protEffect protein altered BGMUT_901 alias KEL 948A BGMUT_901 commonName Ko (Germany 2) BGMUT_901 phenoCommon Kell null BGMUT_901 protEffect W316X BGMUT_902 alias KEL 1216T BGMUT_902 commonName Ko (Austria 2) BGMUT_902 phenoCommon Kell 1;-2 BGMUT_902 protEffect R406X BGMUT_903 alias KEL 1477T BGMUT_903 commonName Ko (Germany 3) BGMUT_903 phenoCommon Kell null BGMUT_903 protEffect Q493X BGMUT_904 alias KEL 1546T BGMUT_904 commonName Ko (Germany 4) BGMUT_904 phenoCommon Kell null BGMUT_904 protEffect R516X BGMUT_905 alias KEL 1678G BGMUT_905 commonName Ko (Austria 3) BGMUT_905 phenoCommon Kell 1;-2 BGMUT_905 protEffect P560A BGMUT_906 alias KEL 2023T BGMUT_906 commonName Ko (Austria 4) BGMUT_906 phenoCommon Kell 1;-2 BGMUT_906 protEffect R675X BGMUT_907 alias KEL 986C BGMUT_907 commonName Ko (US 1) BGMUT_907 phenoCommon Kell 1;2mod BGMUT_907 protEffect L329P BGMUT_908 alias KEL 306A,1298T BGMUT_908 commonName Ko (Austria 5) BGMUT_908 phenoCommon Kell 1;2el BGMUT_908 protEffect D102E; P433L BGMUT_909 alias KEL 1763G BGMUT_909 commonName Ko (Austria 6) BGMUT_909 phenoCommon Kell 1;2el BGMUT_909 protEffect Y588C BGMUT_910 alias KEL 841T BGMUT_910 commonName Ko (Austria 7) BGMUT_910 phenoCommon Kell 1;2 weak BGMUT_910 protEffect R281W BGMUT_911 commonName Aw14 BGMUT_911 phenoCommon Aweak BGMUT_911 protEffect P156L; H233Q BGMUT_912 commonName Bw18 BGMUT_912 phenoCommon Bw BGMUT_912 protEffect R176G; G235S; L266M; G268T BGMUT_913 commonName Bw15 BGMUT_913 phenoCommon Bw BGMUT_913 protEffect R176G; M189V; G235S; L266M; G268A BGMUT_914 commonName Bw16 BGMUT_914 phenoCommon Bw BGMUT_914 protEffect R176G; I192T; G235S; L266M; G268A BGMUT_915 commonName Bw17 BGMUT_915 phenoCommon Bw BGMUT_915 protEffect R176G; G235S; D262N; L266M; G268A BGMUT_916 commonName Bw19 BGMUT_916 phenoCommon Bw BGMUT_916 protEffect R176G; F216I; G235S; L266M; G268A BGMUT_917 commonName Bw14 ( same as B110) BGMUT_917 phenoCommon Bw BGMUT_917 protEffect V175M; R176G; G235S; L266M; G268A BGMUT_919 alias RHD 494G BGMUT_919 commonName RHD weak D 494G BGMUT_919 phenoCommon putative weak or partial D BGMUT_919 protEffect Y165C BGMUT_92 commonName Ax07 BGMUT_92 phenoCommon Ax BGMUT_92 protEffect W332X BGMUT_920 alias RHD 1148C BGMUT_920 commonName RHD weak D 1148C BGMUT_920 phenoCommon putative weak or partial D BGMUT_920 protEffect L383P BGMUT_922 alias RHD 1219-1224del BGMUT_922 commonName RHD weak D 1219-1224del BGMUT_922 phenoCommon putative weak or partial D BGMUT_922 protEffect F407-W408del BGMUT_924 alias RHD 640T BGMUT_924 commonName RHD weak D 640T BGMUT_924 phenoCommon probably weak D BGMUT_924 protEffect L214F BGMUT_925 alias RHD 677A BGMUT_925 commonName RHD weak D 677A BGMUT_925 phenoCommon putative weak or partial D BGMUT_925 protEffect A266D BGMUT_926 alias RHD 1006C BGMUT_926 commonName RHD weak D 1006C BGMUT_926 phenoCommon putative weak or partial D BGMUT_926 protEffect G366R BGMUT_927 alias RHD 65A BGMUT_927 commonName RHD weak D 65A BGMUT_927 phenoCommon putative weak or partial D BGMUT_927 protEffect A22E BGMUT_928 alias RHD 284G BGMUT_928 commonName RHD weak D 284G BGMUT_928 phenoCommon putative weak or partial D BGMUT_928 protEffect D95G BGMUT_929 alias RHD 330GTdel BGMUT_929 commonName RHD weak D 330GTdel BGMUT_929 phenoCommon D null BGMUT_929 protEffect fs BGMUT_93 commonName Ax08 BGMUT_93 phenoCommon Ax BGMUT_93 protEffect F216I; V277M BGMUT_930 alias RHD 667G,697C,1136T,1177C BGMUT_930 commonName RHD weak D 667G,697C,1136T,1177C BGMUT_930 phenoCommon partial D BGMUT_930 protEffect F223V, E233Q, T379M, W393R BGMUT_932 commonName A305 BGMUT_932 phenoCommon A3 BGMUT_932 protEffect V274M BGMUT_933 commonName A306 BGMUT_933 phenoCommon A3 BGMUT_933 protEffect P156L; V274M BGMUT_934 commonName A307 BGMUT_934 phenoCommon A3 BGMUT_934 protEffect P156L; R249W BGMUT_935 commonName Ax11 BGMUT_935 phenoCommon Ax BGMUT_935 protEffect P156L; A287V BGMUT_936 alias SLC4A1 2191C BGMUT_936 commonName SLC4A1 -Hemel BGMUT_936 phenoCommon hemolytic anemia; cation-leaky red cells BGMUT_936 protEffect S731P BGMUT_937 alias SLC4A1 166G, 1249T, 2201G BGMUT_937 commonName SLC4A1 - Hurstpierpoint 2 BGMUT_937 phenoCommon hemolytic anemia; cation-leaky red cells BGMUT_937 protEffect K56E; L417L; H734R BGMUT_938 alias SCL4A1 2113T BGMUT_938 commonName SLC4A1 - Horam BGMUT_938 phenoCommon hemolytic anemia; cation-leaky red cells BGMUT_938 protEffect D705Y BGMUT_939 alias SLC4A1 2201G BGMUT_939 commonName SLC4A1 - Hurstpierpoint 1 BGMUT_939 phenoCommon hemolytic anemia; cation-leaky red cells BGMUT_939 protEffect H734R BGMUT_94 commonName Aw01 BGMUT_94 phenoCommon Aw BGMUT_94 protEffect T136M; P156L; 354fs BGMUT_940 alias SLC4A1 2060C BGMUT_940 commonName SLC4A1 - Blackburn BGMUT_940 phenoCommon hemolytic anemia; cation-leaky red cells BGMUT_940 protEffect L687P BGMUT_941 commonName O60 (designated by authors O4 or O41) BGMUT_941 phenoCommon O BGMUT_941 protEffect 29fs; 55x BGMUT_942 commonName DO 185C,378T,624C,793G BGMUT_942 phenoCommon Do(a-b-), Hy-, Gy(a-) BGMUT_942 protEffect F62S; Y126Y; L208L; N265D BGMUT_943 alias DAF 466A BGMUT_943 commonName DAF CROM (CROM14) BGMUT_943 phenoCommon CROV- BGMUT_943 protEffect E156K BGMUT_944 alias DAF 740G BGMUT_944 commonName DAF CRAM (CROM15) BGMUT_944 phenoCommon CRAM- BGMUT_944 protEffect Q247R BGMUT_945 commonName FUT2 210G, 357T BGMUT_945 phenoCommon secretor BGMUT_945 protEffect T70T; N119N BGMUT_946 commonName FUT2 357T, 380A, 385T BGMUT_946 phenoCommon weak secretor (deduced) BGMUT_946 protEffect N119N; R127H; I129F BGMUT_947 commonName FUT2 853A BGMUT_947 phenoCommon weaker secretor (deduced reduced enzyme activity) BGMUT_947 protEffect A285T BGMUT_948 commonName FUT2 357T, 855C BGMUT_948 phenoCommon secretor BGMUT_948 protEffect N119N; A285A BGMUT_949 commonName FUT2 171G;216T;428A;572A;739A;960G;1009G;1011C BGMUT_949 phenoCommon non-secretor BGMUT_949 protEffect A57A; Y72Y; W143X; R191Q; G247S; T320T; BGMUT_95 commonName Aw02 BGMUT_95 phenoCommon Aw BGMUT_95 protEffect G117A; P156L; 354fs BGMUT_950 commonName FUT2 357T, 748insGTG BGMUT_950 phenoCommon not known BGMUT_950 protEffect 249-250insV BGMUT_951 alias CD44 488A BGMUT_951 commonName IN 4 BGMUT_951 phenoCommon IN:-4 BGMUT_951 protEffect T163K BGMUT_953 alias RHD 505C, 509G, 514T, 560A, 577A; 594T, 602G (RHD1-3 CE4 D5-10) BGMUT_953 commonName RHD DFR-2 BGMUT_953 phenoCommon DFR BGMUT_953 protEffect M169L;M170R;I172F;S182T;E193K;K198N;T201R BGMUT_959 alias RHD DCS-1 BGMUT_959 commonName RHD 667G; 676C BGMUT_959 phenoCommon ccDEe BGMUT_959 protEffect F223V; A226P BGMUT_96 commonName Aw03 BGMUT_96 phenoCommon Aw BGMUT_96 protEffect R68T; P156L; 354fs BGMUT_960 alias RHD DCS-2 BGMUT_960 commonName RHD 676C BGMUT_960 phenoCommon ccDEe BGMUT_960 protEffect A226P BGMUT_961 commonName Bw20 BGMUT_961 phenoCommon O; no or very weak anti-B in serum BGMUT_961 protEffect R176G; G235S; L266M; G268A; 272fs +38 aa BGMUT_962 commonName A210 BGMUT_962 phenoCommon A2 BGMUT_962 protEffect W90R;P156L BGMUT_963 commonName A211 BGMUT_963 phenoCommon A2 BGMUT_963 protEffect P89L;P156L BGMUT_964 commonName B307 BGMUT_964 phenoCommon B3 BGMUT_964 protEffect A137V; R176G; G235S; L266M; G268A BGMUT_97 commonName Aw04 BGMUT_97 phenoCommon Aw BGMUT_97 protEffect R241W BGMUT_98 commonName Aw05 BGMUT_98 phenoCommon Aw BGMUT_98 protEffect E322G BGMUT_99 commonName Aw06 BGMUT_99 phenoCommon Aw BGMUT_99 protEffect R168G BGMUT_101 longName AF134412.1(ABO):c.[220C>T; 297A>G; 488C>T; 526C>G; 802G>A; 98+127_98+128insA; 98+362C>T; 98+369C>G; 98+396T>C; 98+437C>T; 98+539C>A; 155+1095delC; 155+1096delA; 203+375C>T; 203+1467G>A; 203+1496T>C; 203+1511T>G; 203+1623_203+1624insC; 239+91T>C; 239+103_239+104insCCC; 239+266G>A; 373+42G>T; 373+163T>C; 373+179C>T; 373+271A>G; 373+280C>T; 373+446A>G; 373+628A>G; 373+786A>G; 373+891A>G; 373+901G>A; 373+950A>G] BGMUT_27 longName AF134412.1(ABO):c.[98+396T>C; 98+437C>T; 155+205C>T; 155+479C>T; 155+525A>T; 155+969T>C; 155+1063A>G; 155+1244C>T; 155+1278T>C; 155+1357C>T; 203+28G>C; 203+73_203+74insGTGTGGACAGAAG; 203+114C>T; 203+163G>A; 203+346T>G; 203+738T>G; 203+1176C>T; 203+1467G>A; 203+1496T>C; 203+1511T>G; 203+1623_203+1624insC; 239+103_239+104insCCC; 239+306C>T; 239+450C>A; 239+527G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+717G>A; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT_33 longName AF134412.1(ABO):c.[98+396T>C; 98+437C>T; 155+205C>T; 155+479C>T; 155+525A>T; 155+969T>C; 155+1063A>G; 155+1244C>T; 155+1278T>C; 203+28G>C; 203+73_203+74insGTGTGGACAGAAG; 203+114C>T; 203+163G>A; 203+346T>G; 203+738T>G; 203+1176C>T; 203+1467G>A; 203+1496T>C; 203+1511T>G; 203+1623_203+1624insC; 239+103_239+104insCCC; 239+306C>T; 239+450C>A; 239+527G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT_41 longName AF134412.1(ABO):c.[155+205C>T; 155+479C>T; 155+525A>T; 155+969T>C; 155+1063A>G; 155+1244C>T; 155+1278T>C; 203+28G>C; 203+73_203+74insGTGTGGACAGAAG; 203+114C>T; 203+163G>A; 203+346T>G; 203+738T>G; 203+1176C>T; 203+1467G>A; 203+1496T>C; 203+1511T>G; 203+1623_203+1624insC; 239+103_239+104insCCC; 239+306C>T; 239+450C>A; 239+527G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT_63 longName AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 538C>T; 646T>A; 681G>A; 771C>T; 829G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+717G>A; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT_64 longName AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 498C>T; 646T>A; 681G>A; 771C>T; 829G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+717G>A; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT_65 longName AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 351G>A; 646T>A; 681G>A; 771C>T; 829G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+717G>A; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] TP53_g.17910_17939del commonName del30 TP53_g.13806G>C commonName G>C TP53_g.13806G>C protEffect p.Ala276Pro TP53_g.12637_12639del commonName del3 TP53_g.13409G>T commonName G>T TP53_g.13409G>T protEffect p.Glu258STOP BGMUT_68 longName AF134412.1(ABO):c.[220C>T; 261delG #insertion in reference#; 297A>G; 681G>A; 771C>T; 829G>A; 98+396T>C; 98+437C>T; 155+205C>T; 155+479C>T; 155+525A>T; 155+969T>C; 155+1063A>G; 155+1244C>T; 155+1278T>C; 203+28G>C; 203+73_203+74insGTGTGGACAGAAG; 203+114C>T; 203+163G>A; 203+346T>G; 203+738T>G; 203+1176C>T; 203+1467G>A; 203+1496T>C; 203+1511T>G; 203+1623_203+1624insC; 239+103_239+104insCCC; 239+306C>T; 239+450C>A; 239+527G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT_69 longName AF134412.1(ABO):c.[106G>T; 188G>A; 189C>T; 261delG #insertion in reference#; 297A>G; 646T>A; 681G>A; 829G>A; 98+362C>T; 98+369C>G; 98+396T>C; 98+437C>T; 155+205C>T; 155+479C>T; 155+525A>T; 155+969T>C; 155+1063A>G; 155+1244C>T; 155+1278T>C; 203+28G>C; 203+73_203+74insGTGTGGACAGAAG; 203+114C>T; 203+163G>A; 203+346T>G; 203+738T>G; 203+1176C>T; 203+1467G>A; 203+1496T>C; 203+1511T>G; 203+1623_203+1624insC; 239+103_239+104insCCC; 239+306C>T; 239+450C>A; 239+527G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT_71 longName AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A; 373+89T>A; 373+163T>C; 373+180-187dupGTGGGCTC; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+717G>A; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT_762 longName AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 98+362C>T; 98+369C>G; 98+396T>C; 155+41G>A; 155+199C>T; 155+377C>T; 155+399G>A; 155+969T>C; 155+1170C>T; 155+1254C>T; 155+1357C>T; 203+1delG; 203+28G>C; 203+74A>T; 203+215A>G; 203+216A>C; 203+673A>T; 203+738T>G; 203+1467G>A; 203+1496T>C; 203+1511T>G; 203+1623C>CC; 239+496G>A; 373+160delT; 373+163T>C; 373+188G>A; 373+235C>G; 373+268T>G; 373+446A>G; 373+786A>G; 373+788G>A; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT_764 longName AF134412.1(ABO):c.[467C>T; 1061delC; 98+362C>T; 98+369C>G; 98+396T>C; 155+41G>A; 155+199C>T; 155+377C>T; 155+399G>A; 155+969T>C; 155+1254C>T; 155+1357C>T; 203+1delG; 203+28G>C; 203+74A>T; 203+215A>G; 203+216A>C; 203+673A>T; 203+738T>G; 203+1467G>A; 203+1496T>C; 203+1511T>G; 203+1623C>CC] TP53_g.12381C>G commonName C>G TP53_g.12381C>G protEffect p.Asn131Lys TP53_g.13860del commonName del1 TP53_g.13839G>A commonName G>A TP53_g.13839G>A protEffect p.Glu287Lys TP53_g.13833G>C commonName G>C TP53_g.13833G>C protEffect p.Glu285Gln TP53_g.13841G>A commonName G>A TP53_g.13841G>A protEffect p.Glu287Glu TP53_g.13410A>G commonName A>G TP53_g.13410A>G protEffect p.Glu258Gly TP53_g.13380_13381delinsAA commonName GG>AA TP53_g.13380_13381delinsAA protEffect p.Arg248Gln TP53_g.12701C>T commonName C>T TP53_g.12701C>T protEffect p.Thr211Ile TP53_g.12496A>T commonName A>T TP53_g.12496A>T protEffect p.Thr170Ser TP53_g.12439C>G commonName C>G TP53_g.12439C>G protEffect p.Pro151Ala TP53_g.12679G>T commonName G>T TP53_g.12679G>T protEffect p.Glu204STOP TP53_g.13819G>T commonName G>T TP53_g.13819G>T protEffect p.Arg280Ile TP53_g.12449G>A commonName G>A TP53_g.12449G>A protEffect p.Gly154Asp TP53_g.13368G>T commonName G>T TP53_g.13368G>T protEffect p.Gly244Val TP53_g.13383G>A commonName G>A TP53_g.13383G>A protEffect p.Arg249Lys TP53_g.13837A>G commonName A>G TP53_g.13837A>G protEffect p.Glu286Gly TP53_g.12661G>T commonName G>T TP53_g.12661G>T protEffect p.Glu198STOP TP53_g.13794G>C commonName G>C TP53_g.13794G>C protEffect p.Val272Leu TP53_g.13809T>G commonName T>G TP53_g.13809T>G protEffect p.Cys277Gly TP53_g.13351T>A commonName T>A TP53_g.13351T>A protEffect p.Cys238STOP TP53_g.13886G>T commonName G>T TP53_g.13886G>T protEffect p.Gly302Gly TP53_g.13805_13806ins30 commonName ins30 TP53_g.12468G>T commonName G>T TP53_g.12468G>T protEffect p.Met160Ile TP53_g.12363G>T commonName G>T TP53_g.13762G>T commonName G>T TP53_g.12400G>C commonName G>C TP53_g.12400G>C protEffect p.Ala138Pro TP53_g.12678G>T commonName G>T TP53_g.12678G>T protEffect p.Val203Val TP53_g.12415G>T commonName G>T TP53_g.12415G>T protEffect p.Val143Leu TP53_g.11569_11570delinsGT commonName TC>GT TP53_g.11569_11570delinsGT protEffect p.Phe113Cys TP53_g.11568_11569delinsGG commonName TT>GG TP53_g.11568_11569delinsGG protEffect p.Phe113Gly TP53_g.12364_12384del commonName del21 TP53_g.12364_12384del protEffect Y126_K132del TP53_g.12368C>T commonName C>T TP53_g.12368C>T protEffect p.Ser127Phe TP53_g.12506T>C commonName T>C TP53_g.12506T>C protEffect p.Val173Ala TP53_g.12521A>C commonName A>C TP53_g.12521A>C protEffect p.His178Pro TP53_g.12523C>G commonName C>G TP53_g.12523C>G protEffect p.His179Asp TP53_g.13351_13352del commonName del2 TP53_g.13362G>A commonName G>A TP53_g.13362G>A protEffect p.Cys242Tyr TP53_g.13401T>C commonName T>C TP53_g.13401T>C protEffect p.Ile255Thr TP53_g.13776G>A commonName G>A TP53_g.13776G>A protEffect p.Gly266Arg TP53_g.13813C>G commonName C>G TP53_g.13813C>G protEffect p.Pro278Arg TP53_g.13346_13347del commonName del2 TP53_g.12520C>G commonName C>G TP53_g.12520C>G protEffect p.His178Asp TP53_g.12393C>T commonName C>T TP53_g.12393C>T protEffect p.Cys135Cys TP53_g.12441C>T commonName C>T TP53_g.12441C>T protEffect p.Pro151Pro TP53_g.12440C>T commonName C>T TP53_g.12440C>T protEffect p.Pro151Leu TP53_g.13375G>T commonName G>T TP53_g.13375G>T protEffect p.Met246Ile TP53_g.12627A>C commonName A>C TP53_g.12724_12735del commonName del12 TP53_g.13402_13405del commonName del4 TP53_g.12517C>T commonName C>T TP53_g.12517C>T protEffect p.Pro177Ser TP53_g.12393C>G commonName C>G TP53_g.12393C>G protEffect p.Cys135Trp TP53_g.13880_13881ins2 commonName ins2 TP53_g.13388A>C commonName A>C TP53_g.13388A>C protEffect p.Ile251Leu TP53_g.13398T>C commonName T>C TP53_g.13398T>C protEffect p.Ile254Thr TP53_g.13323G>C commonName G>C TP53_g.13323G>C protEffect p.Cys229Ser TP53_g.12443C>A commonName C>A TP53_g.12443C>A protEffect p.Pro152Gln TP53_g.13412G>T commonName G>T TP53_g.13412G>T protEffect p.Asp259Tyr TP53_g.13404C>T commonName C>T TP53_g.13404C>T protEffect p.Thr256Ile TP53_g.12512G>C commonName G>C TP53_g.12512G>C protEffect p.Arg175Pro TP53_g.12497C>T commonName C>T TP53_g.12497C>T protEffect p.Thr170Met TP53_g.13355A>G commonName A>G TP53_g.13355A>G protEffect p.Ser240Gly TP53_g.12556C>T commonName C>T TP53_g.11327G>C commonName G>C TP53_g.13420G>T commonName G>T TP53_g.12706C>A commonName C>A TP53_g.12706C>A protEffect p.Arg213Arg TP53_g.13395C>T commonName C>T TP53_g.13395C>T protEffect p.Thr253Ile TP53_g.13823C>A commonName C>A TP53_g.13823C>A protEffect p.Asp281Glu TP53_g.13788T>C commonName T>C TP53_g.13788T>C protEffect p.Phe270Leu TP53_g.16915del commonName del1 TP53_g.12478A>G commonName A>G TP53_g.12478A>G protEffect p.Lys164Glu TP53_g.13350G>C commonName G>C TP53_g.13350G>C protEffect p.Cys238Ser TP53_g.13320A>G commonName A>G TP53_g.13320A>G protEffect p.Asp228Gly TP53_g.13341A>G commonName A>G TP53_g.13341A>G protEffect p.Asn235Ser TP53_g.13309G>T commonName G>T TP53_g.12658G>A commonName G>A TP53_g.12658G>A protEffect p.Val197Met TP53_g.12656G>C commonName G>C TP53_g.12656G>C protEffect p.Arg196Pro TP53_g.11213G>A commonName G>A TP53_g.11213G>A protEffect p.Val31Ile TP53_g.12460del commonName del1 TP53_g.13991G>A commonName G>A TP53_g.11559del commonName del1 TP53_g.11504G>A commonName G>A TP53_g.11504G>A protEffect p.Trp91STOP TP53_g.12487C>T commonName C>T TP53_g.12487C>T protEffect p.Gln167STOP TP53_g.12448_12461del commonName del14 TP53_g.12651_12652ins1 commonName ins1 TP53_g.12665G>A commonName G>A TP53_g.12665G>A protEffect p.Gly199Glu TP53_g.13801T>G commonName T>G TP53_g.13801T>G protEffect p.Val274Gly TP53_g.12519_12520ins1 commonName ins1 TP53_g.12415G>A commonName G>A TP53_g.12415G>A protEffect p.Val143Met TP53_g.13795T>A commonName T>A TP53_g.13795T>A protEffect p.Val272Glu TP53_g.13774_13775delinsCT commonName TG>CT TP53_g.13774_13775delinsCT protEffect p.Leu265Pro TP53_g.16936del commonName del1 TP53_g.13380_13381delinsTT commonName GG>TT TP53_g.13380_13381delinsTT protEffect p.Arg248Leu TP53_g.12626T>G commonName T>G TP53_g.13315_13316ins37 commonName ins37 TP53_g.13407T>A commonName T>A TP53_g.13407T>A protEffect p.Leu257Gln TP53_g.13892_13893ins4 commonName ins4 TP53_g.12741G>A commonName G>A TP53_g.12741G>A protEffect p.Glu224Glu TP53_g.13777G>A commonName G>A TP53_g.13777G>A protEffect p.Gly266Glu TP53_g.13816G>A commonName G>A TP53_g.13816G>A protEffect p.Gly279Glu TP53_g.12721_12722del commonName del2 TP53_g.12406del commonName del1 TP53_g.12394C>G commonName C>G TP53_g.12394C>G protEffect p.Gln136Glu TP53_g.12544G>T commonName G>T TP53_g.12544G>T protEffect p.Asp186Tyr TP53_g.12670del commonName del1 TP53_g.12478A>C commonName A>C TP53_g.12478A>C protEffect p.Lys164Gln TP53_g.12692A>T commonName A>T TP53_g.12692A>T protEffect p.Asp208Val TP53_g.13400_13402del commonName del3 TP53_g.12547G>T commonName G>T TP53_g.12547G>T protEffect p.Gly187Cys TP53_g.13385C>G commonName C>G TP53_g.13385C>G protEffect p.Pro250Ala TP53_g.13899G>A commonName G>A TP53_g.13899G>A protEffect p.Ala307Thr TP53_g.13818A>G commonName A>G TP53_g.13818A>G protEffect p.Arg280Gly TP53_g.13780G>A commonName G>A TP53_g.13780G>A protEffect p.Arg267Gln TP53_g.13773del commonName del1 TP53_g.13794G>T commonName G>T TP53_g.13794G>T protEffect p.Val272Leu TP53_g.13358_13360del commonName del3 TP53_g.13776G>T commonName G>T TP53_g.13776G>T protEffect p.Gly266STOP TP53_g.12530G>C commonName G>C TP53_g.12530G>C protEffect p.Arg181Pro TP53_g.13800G>C commonName G>C TP53_g.13800G>C protEffect p.Val274Leu TP53_g.13805_13806ins4 commonName ins4 TP53_g.12409T>G commonName T>G TP53_g.12409T>G protEffect p.Cys141Gly TP53_g.13368G>A commonName G>A TP53_g.13368G>A protEffect p.Gly244Asp TP53_g.13322_13323del commonName del2 TP53_g.13388del commonName del1 TP53_g.12398T>C commonName T>C TP53_g.12398T>C protEffect p.Leu137Pro TP53_g.13855A>G commonName A>G TP53_g.13855A>G protEffect p.Lys292Arg TP53_g.13399C>A commonName C>A TP53_g.13399C>A protEffect p.Ile254Ile TP53_g.13805T>C commonName T>C TP53_g.13805T>C protEffect p.Cys275Cys TP53_g.12638C>T commonName C>T TP53_g.12638C>T protEffect p.Pro190Leu TP53_g.12439C>A commonName C>A TP53_g.12439C>A protEffect p.Pro151Thr TP53_g.13812_13813delinsTT commonName CC>TT TP53_g.13812_13813delinsTT protEffect p.Pro278Phe TP53_g.13331A>T commonName A>T TP53_g.13331A>T protEffect p.Ile232Phe TP53_g.12438_12439ins1 commonName ins1 TP53_g.12525T>C commonName T>C TP53_g.12525T>C protEffect p.His179His TP53_g.12458T>A commonName T>A TP53_g.12458T>A protEffect p.Val157Asp TP53_g.12664_12677del commonName del14 TP53_g.12508A>T commonName A>T TP53_g.12508A>T protEffect p.Arg174Trp TP53_g.13345C>G commonName C>G TP53_g.13345C>G protEffect p.Tyr236STOP TP53_g.13411A>T commonName A>T TP53_g.13411A>T protEffect p.Glu258Asp TP53_g.12694_12700del commonName del7 TP53_g.12427G>A commonName G>A TP53_g.12427G>A protEffect p.Val147Ile TP53_g.12391T>C commonName T>C TP53_g.12391T>C protEffect p.Cys135Arg TP53_g.13774T>C commonName T>C TP53_g.13774T>C protEffect p.Leu265Pro TP53_g.12498_12499delinsTT commonName GG>TT TP53_g.12498_12499delinsTT protEffect E171X TP53_g.12447C>T commonName C>T TP53_g.12447C>T protEffect p.Pro153Pro TP53_g.12363G>C commonName G>C TP53_g.13417C>T commonName C>T TP53_g.13417C>T protEffect p.Ser260Ser TP53_g.12394C>T commonName C>T TP53_g.12394C>T protEffect p.Gln136STOP TP53_g.12494T>A commonName T>A TP53_g.12494T>A protEffect p.Met169Lys TP53_g.12496A>G commonName A>G TP53_g.12496A>G protEffect p.Thr170Ala TP53_g.13792A>G commonName A>G TP53_g.13792A>G protEffect p.Glu271Gly TP53_g.12406A>G commonName A>G TP53_g.12406A>G protEffect p.Thr140Ala TP53_g.12412C>T commonName C>T TP53_g.12412C>T protEffect p.Pro142Ser TP53_g.13827C>G commonName C>G TP53_g.13827C>G protEffect p.Arg283Gly TP53_g.12533G>A commonName G>A TP53_g.12533G>A protEffect p.Cys182Tyr TP53_g.13825G>A commonName G>A TP53_g.13825G>A protEffect p.Arg282Gln TP53_g.13829del commonName del1 TP53_g.13395C>G commonName C>G TP53_g.13395C>G protEffect p.Thr253Ser TP53_g.12463G>C commonName G>C TP53_g.12463G>C protEffect p.Ala159Pro TP53_g.13381G>T commonName G>T TP53_g.13381G>T protEffect p.Arg248Arg TP53_g.12472A>T commonName A>T TP53_g.12472A>T protEffect p.Ile162Phe TP53_g.13383G>C commonName G>C TP53_g.13383G>C protEffect p.Arg249Thr TP53_g.13379C>G commonName C>G TP53_g.13379C>G protEffect p.Arg248Gly TP53_g.13401T>G commonName T>G TP53_g.13401T>G protEffect p.Ile255Ser TP53_g.13815_13838del commonName del24 TP53_g.12482A>T commonName A>T TP53_g.12482A>T protEffect p.Gln165Leu TP53_g.13896C>T commonName C>T TP53_g.13896C>T protEffect p.Arg306STOP TP53_g.13899_13914del commonName del16 TP53_g.12683A>C commonName A>C TP53_g.12683A>C protEffect p.Tyr205Ser TP53_g.12676del commonName del1 TP53_g.13373A>T commonName A>T TP53_g.13373A>T protEffect p.Met246Leu TP53_g.12448del commonName del1 TP53_g.12363G>A commonName G>A TP53_g.13791del commonName del1 TP53_g.12473T>G commonName T>G TP53_g.12473T>G protEffect p.Ile162Ser TP53_g.12520del commonName del1 TP53_g.13403del commonName del1 TP53_g.12385A>C commonName A>C TP53_g.12385A>C protEffect p.Met133Leu TP53_g.12690T>G commonName T>G TP53_g.12690T>G protEffect p.Asp207Glu TP53_g.11036G>C commonName G>C TP53_g.11036G>C protEffect p.Glu11Gln TP53_g.13871C>T commonName C>T TP53_g.13871C>T protEffect p.His297His TP53_g.13821G>A commonName G>A TP53_g.13821G>A protEffect p.Asp281Asn TP53_g.13370G>C commonName G>C TP53_g.13370G>C protEffect p.Gly245Arg TP53_g.13356G>T commonName G>T TP53_g.13356G>T protEffect p.Ser240Ile TP53_g.13823_13824ins1 commonName ins1 TP53_g.13347del commonName del1 TP53_g.13813C>A commonName C>A TP53_g.13813C>A protEffect p.Pro278His TP53_g.12530G>T commonName G>T TP53_g.12530G>T protEffect p.Arg181Leu TP53_g.13409G>C commonName G>C TP53_g.13409G>C protEffect p.Glu258Gln TP53_g.14020C>T commonName C>T TP53_g.14020C>T protEffect p.Pro316Pro TP53_g.13355del commonName del1 TP53_g.12380A>G commonName A>G TP53_g.12380A>G protEffect p.Asn131Ser TP53_g.13386C>T commonName C>T TP53_g.13386C>T protEffect p.Pro250Leu TP53_g.12398T>A commonName T>A TP53_g.12398T>A protEffect p.Leu137Gln TP53_g.12454_12458del commonName del5 TP53_g.13801T>C commonName T>C TP53_g.13801T>C protEffect p.Val274Ala TP53_g.13385del commonName del1 TP53_g.12513_12514ins1 commonName ins1 TP53_g.13374T>G commonName T>G TP53_g.13374T>G protEffect p.Met246Arg TP53_g.12457_12463del commonName del7 TP53_g.13346_13363del commonName del18 TP53_g.13358T>G commonName T>G TP53_g.13358T>G protEffect p.Ser241Ala TP53_g.13382A>T commonName A>T TP53_g.13382A>T protEffect p.Arg249Trp TP53_g.12409del commonName del1 TP53_g.12377T>G commonName T>G TP53_g.12377T>G protEffect p.Leu130Arg TP53_g.12724del commonName del1 TP53_g.13788T>G commonName T>G TP53_g.13788T>G protEffect p.Phe270Val TP53_g.11499_11556del commonName del58 TP53_g.13422C>G commonName C>G TP53_g.12393C>A commonName C>A TP53_g.12393C>A protEffect p.Cys135STOP TP53_g.12713G>A commonName G>A TP53_g.12713G>A protEffect p.Ser215Asn TP53_g.16900C>T commonName C>T TP53_g.16900C>T protEffect p.Arg337Cys TP53_g.13361T>A commonName T>A TP53_g.13361T>A protEffect p.Cys242Ser TP53_g.11336G>C commonName G>C TP53_g.11336G>C protEffect p.Leu35Phe TP53_g.13400A>T commonName A>T TP53_g.13400A>T protEffect p.Ile255Phe TP53_g.12502G>T commonName G>T TP53_g.12502G>T protEffect p.Val172Phe TP53_g.12466A>G commonName A>G TP53_g.12466A>G protEffect p.Met160Val TP53_g.13346A>C commonName A>C TP53_g.13346A>C protEffect p.Met237Leu TP53_g.12428T>C commonName T>C TP53_g.12428T>C protEffect p.Val147Ala TP53_g.13324del commonName del1 TP53_g.11596_11597del commonName del2 TP53_g.13391_13396del commonName del6 TP53_g.12457_12465del commonName del9 TP53_g.12464C>A commonName C>A TP53_g.12464C>A protEffect p.Ala159Asp TP53_g.13399C>G commonName C>G TP53_g.13399C>G protEffect p.Ile254Met TP53_g.12370_12396del commonName del27 TP53_g.13824_13829del commonName del6 TP53_g.12677T>C commonName T>C TP53_g.12677T>C protEffect p.Val203Ala TP53_g.11415G>T commonName G>T TP53_g.11415G>T protEffect p.Glu62STOP TP53_g.12724C>T commonName C>T TP53_g.12724C>T protEffect p.Pro219Ser TP53_g.11442del commonName del1 TP53_g.13358del commonName del1 TP53_g.12472A>G commonName A>G TP53_g.12472A>G protEffect p.Ile162Val TP53_g.14014_14015ins1 commonName ins1 TP53_g.13398T>G commonName T>G TP53_g.13398T>G protEffect p.Ile254Ser TP53_g.13848C>T commonName C>T TP53_g.13848C>T protEffect p.Arg290Cys TP53_g.12417G>T commonName G>T TP53_g.12417G>T protEffect p.Val143Val TP53_g.12425G>A commonName G>A TP53_g.12425G>A protEffect p.Trp146STOP TP53_g.13360C>A commonName C>A TP53_g.13360C>A protEffect p.Ser241Ser TP53_g.12699_12700ins1 commonName ins1 TP53_g.12650T>C commonName T>C TP53_g.12650T>C protEffect p.Leu194Pro TP53_g.13343T>A commonName T>A TP53_g.13343T>A protEffect p.Tyr236Asn TP53_g.13779C>T commonName C>T TP53_g.13779C>T protEffect p.Arg267Trp TP53_g.12477C>G commonName C>G TP53_g.12477C>G protEffect p.Tyr163STOP TP53_g.12532T>A commonName T>A TP53_g.12532T>A protEffect p.Cys182Ser TP53_g.13803T>G commonName T>G TP53_g.13803T>G protEffect p.Cys275Gly TP53_g.12460_12463del commonName del4 TP53_g.11565del commonName del1 TP53_g.13316_13319del commonName del4 TP53_g.12648T>A commonName T>A TP53_g.12648T>A protEffect p.His193Gln TP53_g.11367del commonName del1 TP53_g.13359C>A commonName C>A TP53_g.13359C>A protEffect p.Ser241Tyr TP53_g.12730G>T commonName G>T TP53_g.12730G>T protEffect p.Glu221STOP TP53_g.14017_14018ins1 commonName ins1 TP53_g.30020_30115del commonName del96 TP53_g.12677T>A commonName T>A TP53_g.12677T>A protEffect p.Val203Glu TP53_g.13844_13845ins2 commonName ins2 TP53_g.12430_12439del commonName del10 TP53_g.13800_13831del commonName del32 TP53_g.13337_13341del commonName del5 TP53_g.13806_13811del commonName del6 TP53_g.13854_13855del commonName del2 TP53_g.12739_12742del commonName del4 TP53_g.12460_12465del commonName del6 TP53_g.12410G>T commonName G>T TP53_g.12410G>T protEffect p.Cys141Phe TP53_g.12532del commonName del1 TP53_g.13764_13777del commonName del14 TP53_g.16957G>T commonName G>T TP53_g.16957G>T protEffect p.Gly356Trp TP53_g.13420G>A commonName G>A TP53_g.13839_13843del commonName del5 TP53_g.13836G>T commonName G>T TP53_g.13836G>T protEffect p.Glu286STOP TP53_g.13859G>A commonName G>A TP53_g.13859G>A protEffect p.Gly293Gly TP53_g.12427del commonName del1 TP53_g.12481C>T commonName C>T TP53_g.12481C>T protEffect p.Gln165STOP TP53_g.13850del commonName del1 TP53_g.12389T>C commonName T>C TP53_g.12389T>C protEffect p.Phe134Ser TP53_g.12428T>G commonName T>G TP53_g.12428T>G protEffect p.Val147Gly TP53_g.12517del commonName del1 TP53_g.13876T>C commonName T>C TP53_g.13876T>C protEffect p.Leu299Pro TP53_g.11545G>T commonName G>T TP53_g.11545G>T protEffect p.Gly105Val TP53_g.12707G>T commonName G>T TP53_g.12707G>T protEffect p.Arg213Leu TP53_g.13417_13418ins3 commonName ins3 TP53_g.11336G>T commonName G>T TP53_g.11336G>T protEffect p.Leu35Phe TP53_g.13865T>C commonName T>C TP53_g.13865T>C protEffect p.Pro295Pro TP53_g.12628G>A commonName G>A TP53_g.12694del commonName del1 TP53_g.13408_13409delinsAA commonName GG>AA TP53_g.13408_13409delinsAA protEffect E258K TP53_g.11529C>T commonName C>T TP53_g.11529C>T protEffect p.Gln100STOP TP53_g.12518C>T commonName C>T TP53_g.12518C>T protEffect p.Pro177Leu TP53_g.12520C>A commonName C>A TP53_g.12520C>A protEffect p.His178Asn TP53_g.11370_11371del commonName del2 TP53_g.16914_16915delinsTT commonName CC>TT TP53_g.16914_16915delinsTT protEffect R342X TP53_g.13823_13824delinsTT commonName CC>TT TP53_g.13823_13824delinsTT protEffect R282W TP53_g.12515del commonName del1 TP53_g.13387C>T commonName C>T TP53_g.13387C>T protEffect p.Pro250Pro TP53_g.13834A>T commonName A>T TP53_g.13834A>T protEffect p.Glu285Val TP53_g.12649_12652del commonName del4 TP53_g.13789T>C commonName T>C TP53_g.13789T>C protEffect p.Phe270Ser TP53_g.12510G>C commonName G>C TP53_g.12510G>C protEffect p.Arg174Ser TP53_g.11556_11561del commonName del6 TP53_g.12430_12453del commonName del24 TP53_g.13879C>G commonName C>G TP53_g.13879C>G protEffect p.Pro300Arg TP53_g.12515G>C commonName G>C TP53_g.12515G>C protEffect p.Cys176Ser TP53_g.16906G>T commonName G>T TP53_g.16906G>T protEffect p.Glu339STOP TP53_g.13842A>T commonName A>T TP53_g.13842A>T protEffect p.Asn288Tyr TP53_g.12501G>C commonName G>C TP53_g.12501G>C protEffect p.Glu171Asp TP53_g.12659T>A commonName T>A TP53_g.12659T>A protEffect p.Val197Glu TP53_g.13354C>A commonName C>A TP53_g.13354C>A protEffect p.Asn239Lys TP53_g.13797C>A commonName C>A TP53_g.13797C>A protEffect p.Arg273Ser TP53_g.13343T>G commonName T>G TP53_g.13343T>G protEffect p.Tyr236Asp TP53_g.13336_13337ins1 commonName ins1 TP53_g.12433del commonName del1 TP53_g.12646C>G commonName C>G TP53_g.12646C>G protEffect p.His193Asp TP53_g.12517_12534del commonName del18 TP53_g.12490C>G commonName C>G TP53_g.12490C>G protEffect p.His168Asp TP53_g.12672G>C commonName G>C TP53_g.12672G>C protEffect p.Leu201Phe TP53_g.12435C>T commonName C>T TP53_g.12435C>T protEffect p.Ser149Ser TP53_g.13382del commonName del1 TP53_g.12508del commonName del1 TP53_g.13800_13807del commonName del8 TP53_g.12675_12676ins1 commonName ins1 TP53_g.13336C>T commonName C>T TP53_g.13336C>T protEffect p.His233His TP53_g.13343T>C commonName T>C TP53_g.13343T>C protEffect p.Tyr236His TP53_g.13346A>G commonName A>G TP53_g.13346A>G protEffect p.Met237Val TP53_g.13846T>A commonName T>A TP53_g.13846T>A protEffect p.Leu289His TP53_g.16885_16991del commonName del107 TP53_g.12505_12507del commonName del3 TP53_g.12716T>G commonName T>G TP53_g.12716T>G protEffect p.Val216Gly TP53_g.13863C>T commonName C>T TP53_g.13863C>T protEffect p.Pro295Ser TP53_g.13928G>A commonName G>A TP53_g.13783A>G commonName A>G TP53_g.13783A>G protEffect p.Asn268Ser TP53_g.13885G>A commonName G>A TP53_g.13885G>A protEffect p.Gly302Glu TP53_g.13828G>A commonName G>A TP53_g.13828G>A protEffect p.Arg283His TP53_g.13412G>A commonName G>A TP53_g.13412G>A protEffect p.Asp259Asn TP53_g.13364A>T commonName A>T TP53_g.13364A>T protEffect p.Met243Leu TP53_g.13349T>G commonName T>G TP53_g.13349T>G protEffect p.Cys238Gly TP53_g.13405A>G commonName A>G TP53_g.13405A>G protEffect p.Thr256Thr TP53_g.13760T>C commonName T>C TP53_g.13885G>T commonName G>T TP53_g.13885G>T protEffect p.Gly302Val TP53_g.13882C>T commonName C>T TP53_g.13882C>T protEffect p.Pro301Leu TP53_g.12662A>G commonName A>G TP53_g.12662A>G protEffect p.Glu198Gly TP53_g.12541del commonName del1 TP53_g.13763T>C commonName T>C TP53_g.13763T>C protEffect p.Ser261Ser TP53_g.13778A>G commonName A>G TP53_g.13778A>G protEffect p.Gly266Gly TP53_g.12505_12506delinsTG commonName GT>TG TP53_g.12505_12506delinsTG protEffect p.Val173Trp TP53_g.12514del commonName del1 TP53_g.12504T>A commonName T>A TP53_g.12504T>A protEffect p.Val172Val TP53_g.12392G>T commonName G>T TP53_g.12392G>T protEffect p.Cys135Phe TP53_g.13849G>A commonName G>A TP53_g.13849G>A protEffect p.Arg290His TP53_g.13764del commonName del1 TP53_g.13857G>T commonName G>T TP53_g.13857G>T protEffect p.Gly293Trp TP53_g.12278T>C commonName T>C TP53_g.13898_13899ins1 commonName ins1 TP53_g.12393_12394ins1 commonName ins1 TP53_g.12391T>A commonName T>A TP53_g.12391T>A protEffect p.Cys135Ser TP53_g.12442_12443delinsTT commonName CC>TT TP53_g.12442_12443delinsTT protEffect p.Pro152Leu TP53_g.12522_12523delinsTT commonName CC>TT TP53_g.12522_12523delinsTT protEffect H179Y TP53_g.12393_12394delinsTT commonName CC>TT TP53_g.12393_12394delinsTT protEffect Q136X TP53_g.13377A>C commonName A>C TP53_g.13377A>C protEffect p.Asn247Thr TP53_g.12464_12465delinsTT commonName CC>TT TP53_g.12464_12465delinsTT protEffect p.Ala159Val TP53_g.11568T>G commonName T>G TP53_g.11568T>G protEffect p.Phe113Val TP53_g.13368G>C commonName G>C TP53_g.13368G>C protEffect p.Gly244Ala TP53_g.13770_13787del commonName del18 TP53_g.13380G>C commonName G>C TP53_g.13380G>C protEffect p.Arg248Pro TP53_g.12709_12710del commonName del2 TP53_g.13353A>C commonName A>C TP53_g.13353A>C protEffect p.Asn239Thr TP53_g.13367_13374del commonName del8 TP53_g.12508_12524del commonName del17 TP53_g.12385del commonName del1 TP53_g.13791G>T commonName G>T TP53_g.13791G>T protEffect p.Glu271STOP TP53_g.13770del commonName del1 TP53_g.13402_13403ins1 commonName ins1 TP53_g.12718_12720del commonName del3 TP53_g.16905_16906ins5 commonName ins5 TP53_g.12649_12653del commonName del5 TP53_g.12396A>G commonName A>G TP53_g.12396A>G protEffect p.Gln136Gln TP53_g.12478A>T commonName A>T TP53_g.12478A>T protEffect p.Lys164STOP TP53_g.12425G>C commonName G>C TP53_g.12425G>C protEffect p.Trp146Ser TP53_g.11504G>T commonName G>T TP53_g.11504G>T protEffect p.Trp91Cys TP53_g.12485C>G commonName C>G TP53_g.12485C>G protEffect p.Ser166STOP TP53_g.12680A>T commonName A>T TP53_g.12680A>T protEffect p.Glu204Val TP53_g.13878del commonName del1 TP53_g.12649_12661del commonName del13 TP53_g.12451_12460del commonName del10 TP53_g.13360_13361ins1 commonName ins1 TP53_g.12684_12685ins1 commonName ins1 TP53_g.12383A>T commonName A>T TP53_g.12383A>T protEffect p.Lys132Met TP53_g.12698A>G commonName A>G TP53_g.12698A>G protEffect p.Asn210Ser TP53_g.12719T>C commonName T>C TP53_g.12719T>C protEffect p.Val217Ala TP53_g.13838A>C commonName A>C TP53_g.13838A>C protEffect p.Glu286Asp TP53_g.12636C>T commonName C>T TP53_g.12636C>T protEffect p.Ala189Ala TP53_g.30002_30011del commonName del10 TP53_g.13761A>T commonName A>T TP53_g.12627A>T commonName A>T TP53_g.12712_12727del commonName del16 TP53_g.12463del commonName del1 TP53_g.12653T>G commonName T>G TP53_g.12653T>G protEffect p.Ile195Ser TP53_g.12414_12415ins5 commonName ins5 TP53_g.12647A>T commonName A>T TP53_g.12647A>T protEffect p.His193Leu TP53_g.12481_12484del commonName del4 TP53_g.12489_12490ins8 commonName ins8 TP53_g.13850C>T commonName C>T TP53_g.13850C>T protEffect p.Arg290Arg TP53_g.12633_12634ins1 commonName ins1 TP53_g.12499G>A commonName G>A TP53_g.12499G>A protEffect p.Glu171Lys TP53_g.13323G>A commonName G>A TP53_g.13323G>A protEffect p.Cys229Tyr TP53_g.12711T>G commonName T>G TP53_g.12711T>G protEffect p.His214Gln TP53_g.13818A>T commonName A>T TP53_g.13818A>T protEffect p.Arg280STOP TP53_g.13828G>T commonName G>T TP53_g.13828G>T protEffect p.Arg283Leu TP53_g.13386_13387delinsAG commonName CC>AG TP53_g.13386_13387delinsAG protEffect p.Pro250Gln TP53_g.13389del commonName del1 TP53_g.12508_12533del commonName del26 TP53_g.13763_13899del commonName del137 TP53_g.12432T>A commonName T>A TP53_g.12432T>A protEffect p.Asp148Glu TP53_g.13385_13386delinsAA commonName CC>AA TP53_g.13385_13386delinsAA protEffect p.Pro250Asn TP53_g.12547G>A commonName G>A TP53_g.12547G>A protEffect p.Gly187Ser TP53_g.13822A>C commonName A>C TP53_g.13822A>C protEffect p.Asp281Ala TP53_g.13881del commonName del1 TP53_g.12454C>T commonName C>T TP53_g.12454C>T protEffect p.Arg156Cys TP53_g.11463_11475del commonName del13 TP53_g.11370_11373del commonName del4 TP53_g.11560G>C commonName G>C TP53_g.11560G>C protEffect p.Arg110Pro TP53_g.13370_13382del commonName del13 TP53_g.11553_11557del commonName del5 TP53_g.13387_13388ins4 commonName ins4 TP53_g.13857_13871del commonName del15 TP53_g.11472del commonName del1 TP53_g.13796G>C commonName G>C TP53_g.13796G>C protEffect p.Val272Val TP53_g.12640C>A commonName C>A TP53_g.12640C>A protEffect p.Pro191Thr TP53_g.12394C>A commonName C>A TP53_g.12394C>A protEffect p.Gln136Lys TP53_g.13370_13371delinsCA commonName GG>CA TP53_g.13370_13371delinsCA protEffect p.Gly245His TP53_g.13807C>A commonName C>A TP53_g.13807C>A protEffect p.Ala276Asp TP53_g.12400del commonName del1 TP53_g.12503T>C commonName T>C TP53_g.12503T>C protEffect p.Val172Ala TP53_g.12485C>T commonName C>T TP53_g.12485C>T protEffect p.Ser166Leu TP53_g.11424A>T commonName A>T TP53_g.11424A>T protEffect p.Arg65STOP TP53_g.13767A>C commonName A>C TP53_g.13767A>C protEffect p.Asn263His TP53_g.13363C>T commonName C>T TP53_g.13363C>T protEffect p.Cys242Cys TP53_g.11605C>T commonName C>T TP53_g.11605C>T protEffect p.Thr125Met TP53_g.12491A>T commonName A>T TP53_g.12491A>T protEffect p.His168Leu TP53_g.11541_11561del commonName del21 TP53_g.11359T>C commonName T>C TP53_g.11359T>C protEffect p.Leu43Ser TP53_g.14054del commonName del1 TP53_g.13818_13819ins1 commonName ins1 TP53_g.12498_12499del commonName del2 TP53_g.12692del commonName del1 TP53_g.13359del commonName del1 TP53_g.13357_13358ins2 commonName ins2 TP53_g.11389G>A commonName G>A TP53_g.11389G>A protEffect p.Trp53STOP TP53_g.13323_13324del commonName del2 TP53_g.13764_13765delinsCA commonName GG>CA TP53_g.13764_13765delinsCA protEffect p.Gly262His TP53_g.13852A>G commonName A>G TP53_g.13852A>G protEffect p.Lys291Arg TP53_g.12407C>T commonName C>T TP53_g.12407C>T protEffect p.Thr140Ile TP53_g.13894A>G commonName A>G TP53_g.13894A>G protEffect p.Lys305Arg TP53_g.12454C>A commonName C>A TP53_g.12454C>A protEffect p.Arg156Ser TP53_g.12519C>T commonName C>T TP53_g.12519C>T protEffect p.Pro177Pro TP53_g.13861A>G commonName A>G TP53_g.13861A>G protEffect p.Glu294Gly TP53_g.13898A>T commonName A>T TP53_g.13898A>T protEffect p.Arg306Arg TP53_g.13412G>C commonName G>C TP53_g.13412G>C protEffect p.Asp259His TP53_g.13839del commonName del1 TP53_g.12474C>G commonName C>G TP53_g.12474C>G protEffect p.Ile162Met TP53_g.13402_13403ins28 commonName ins28 TP53_g.12695G>A commonName G>A TP53_g.12695G>A protEffect p.Arg209Lys TP53_g.12695G>C commonName G>C TP53_g.12695G>C protEffect p.Arg209Thr TP53_g.12491A>C commonName A>C TP53_g.12491A>C protEffect p.His168Pro TP53_g.12441_12442ins1 commonName ins1 TP53_g.12509del commonName del1 TP53_g.13404C>A commonName C>A TP53_g.13404C>A protEffect p.Thr256Lys TP53_g.12516_12517ins1 commonName ins1 TP53_g.12580T>G commonName T>G TP53_g.12617G>A commonName G>A TP53_g.13849G>T commonName G>T TP53_g.13849G>T protEffect p.Arg290Leu TP53_g.13392T>C commonName T>C TP53_g.13392T>C protEffect p.Leu252Pro TP53_g.13807C>T commonName C>T TP53_g.13807C>T protEffect p.Ala276Val TP53_g.16938A>C commonName A>C TP53_g.16938A>C protEffect p.Glu349Asp TP53_g.13310G>C commonName G>C TP53_g.13310G>C protEffect p.Val225Leu TP53_g.13789T>A commonName T>A TP53_g.13789T>A protEffect p.Phe270Tyr TP53_g.12508_12516del commonName del9 TP53_g.12740A>G commonName A>G TP53_g.12740A>G protEffect p.Glu224Gly TP53_g.13374T>A commonName T>A TP53_g.13374T>A protEffect p.Met246Lys TP53_g.12641C>A commonName C>A TP53_g.12641C>A protEffect p.Pro191His TP53_g.12363_12364ins3 commonName ins3 TP53_g.12411_12412ins1 commonName ins1 TP53_g.13355A>C commonName A>C TP53_g.13355A>C protEffect p.Ser240Arg TP53_g.13869C>T commonName C>T TP53_g.13869C>T protEffect p.His297Tyr TP53_g.13782A>C commonName A>C TP53_g.13782A>C protEffect p.Asn268His TP53_g.12702_12703ins1 commonName ins1 TP53_g.13829C>T commonName C>T TP53_g.13829C>T protEffect p.Arg283Arg TP53_g.13328A>G commonName A>G TP53_g.13328A>G protEffect p.Thr231Ala TP53_g.12732G>A commonName G>A TP53_g.12732G>A protEffect p.Glu221Glu TP53_g.12422T>C commonName T>C TP53_g.12422T>C protEffect p.Leu145Pro TP53_g.13790T>C commonName T>C TP53_g.13790T>C protEffect p.Phe270Phe TP53_g.12640C>T commonName C>T TP53_g.12640C>T protEffect p.Pro191Ser TP53_g.13310G>A commonName G>A TP53_g.13310G>A protEffect p.Val225Ile TP53_g.13418A>C commonName A>C TP53_g.13418A>C protEffect p.Ser261Arg TP53_g.12508_12517del commonName del10 TP53_g.12514T>G commonName T>G TP53_g.12514T>G protEffect p.Cys176Gly TP53_g.12652del commonName del1 TP53_g.13792A>T commonName A>T TP53_g.13792A>T protEffect p.Glu271Val TP53_g.14027A>T commonName A>T TP53_g.14027A>T protEffect p.Lys319STOP TP53_g.12518C>A commonName C>A TP53_g.12518C>A protEffect p.Pro177His TP53_g.13793G>C commonName G>C TP53_g.13793G>C protEffect p.Glu271Asp TP53_g.13856A>T commonName A>T TP53_g.13856A>T protEffect p.Lys292Asn TP53_g.13878C>T commonName C>T TP53_g.13878C>T protEffect p.Pro300Ser TP53_g.13386_13387delinsTG commonName CC>TG TP53_g.13386_13387delinsTG protEffect p.Pro250Leu TP53_g.12518_12519delinsTT commonName CC>TT TP53_g.12518_12519delinsTT protEffect p.Pro177Leu TP53_g.12674G>C commonName G>C TP53_g.12674G>C protEffect p.Arg202Pro TP53_g.12447_12448ins1 commonName ins1 TP53_g.13302T>A commonName T>A TP53_g.13418A>T commonName A>T TP53_g.13418A>T protEffect p.Ser261Cys TP53_g.13888G>C commonName G>C TP53_g.13888G>C protEffect p.Ser303Thr TP53_g.13939del commonName del1 TP53_g.13815G>A commonName G>A TP53_g.13815G>A protEffect p.Gly279Arg TP53_g.12503T>G commonName T>G TP53_g.12503T>G protEffect p.Val172Gly TP53_g.14061T>A commonName T>A TP53_g.14061T>A protEffect p.Leu330His TP53_g.12436_12447del commonName del12 TP53_g.12742G>T commonName G>T TP53_g.13328A>T commonName A>T TP53_g.13328A>T protEffect p.Thr231Ser TP53_g.13348G>C commonName G>C TP53_g.13348G>C protEffect p.Met237Ile TP53_g.13366G>C commonName G>C TP53_g.13366G>C protEffect p.Met243Ile TP53_g.13881C>G commonName C>G TP53_g.13881C>G protEffect p.Pro301Ala TP53_g.12463G>T commonName G>T TP53_g.12463G>T protEffect p.Ala159Ser TP53_g.14032G>C commonName G>C TP53_g.14032G>C protEffect p.Lys320Asn TP53_g.12479A>T commonName A>T TP53_g.12479A>T protEffect p.Lys164Met TP53_g.12656G>A commonName G>A TP53_g.12656G>A protEffect p.Arg196Gln TP53_g.12693C>A commonName C>A TP53_g.12693C>A protEffect p.Asp208Glu TP53_g.12693C>G commonName C>G TP53_g.12693C>G protEffect p.Asp208Glu TP53_g.13388_13390del commonName del3 TP53_g.12399G>A commonName G>A TP53_g.12399G>A protEffect p.Leu137Leu TP53_g.13830_13831del commonName del2 TP53_g.12687_12688ins4 commonName ins4 TP53_g.12677del commonName del1 TP53_g.12488A>G commonName A>G TP53_g.12488A>G protEffect p.Gln167Arg TP53_g.12439_12440del commonName del2 TP53_g.13866C>T commonName C>T TP53_g.13866C>T protEffect p.His296Tyr TP53_g.12664G>A commonName G>A TP53_g.12664G>A protEffect p.Gly199Arg TP53_g.13406C>G commonName C>G TP53_g.13406C>G protEffect p.Leu257Val TP53_g.13825delinsCCC commonName G>CCC TP53_g.13815G>T commonName G>T TP53_g.13815G>T protEffect p.Gly279Trp TP53_g.13870A>C commonName A>C TP53_g.13870A>C protEffect p.His297Pro TP53_g.13341del commonName del1 TP53_g.12721G>A commonName G>A TP53_g.12721G>A protEffect p.Val218Met TP53_g.12381_12382ins1 commonName ins1 TP53_g.12640_12642del commonName del3 TP53_g.12515_12516ins2 commonName ins2 TP53_g.12635C>G commonName C>G TP53_g.12635C>G protEffect p.Ala189Gly TP53_g.12379A>C commonName A>C TP53_g.12379A>C protEffect p.Asn131His TP53_g.13358T>C commonName T>C TP53_g.13358T>C protEffect p.Ser241Pro TP53_g.12511_12512del commonName del2 TP53_g.12490C>A commonName C>A TP53_g.12490C>A protEffect p.His168Asn TP53_g.12470_12471delinsGA commonName CC>GA TP53_g.12470_12471delinsGA protEffect p.Ala161Gly TP53_g.13340A>G commonName A>G TP53_g.13340A>G protEffect p.Asn235Asp TP53_g.12516del commonName del1 TP53_g.12411C>T commonName C>T TP53_g.12411C>T protEffect p.Cys141Cys TP53_g.16916G>C commonName G>C TP53_g.16916G>C protEffect p.Arg342Pro TP53_g.13260_13261ins1 commonName ins1 TP53_g.12525T>A commonName T>A TP53_g.12525T>A protEffect p.His179Gln TP53_g.14007C>G commonName C>G TP53_g.14007C>G protEffect p.Thr312Ser TP53_g.12694_12708del commonName del15 TP53_g.13880_13881ins1 commonName ins1 TP53_g.12486_12487ins1 commonName ins1 TP53_g.12697del commonName del1 TP53_g.12682T>C commonName T>C TP53_g.12682T>C protEffect p.Tyr205His TP53_g.12461G>C commonName G>C TP53_g.12461G>C protEffect p.Arg158Pro TP53_g.12641_12650del commonName del10 TP53_g.11380_11419del commonName del40 TP53_g.13401T>A commonName T>A TP53_g.13401T>A protEffect p.Ile255Asn TP53_g.11531G>A commonName G>A TP53_g.11531G>A protEffect p.Gln100Gln TP53_g.11549C>G commonName C>G TP53_g.11549C>G protEffect p.Ser106Arg TP53_g.14044T>G commonName T>G TP53_g.14044T>G protEffect p.Asp324Glu TP53_g.13373_13391del commonName del19 TP53_g.16927_16941del commonName del15 TP53_g.12627_12636del commonName del10 TP53_g.30003_30015del commonName del13 TP53_g.13776G>C commonName G>C TP53_g.13776G>C protEffect p.Gly266Arg TP53_g.12497_12504del commonName del8 TP53_g.13337T>G commonName T>G TP53_g.13337T>G protEffect p.Tyr234Asp TP53_g.12404A>G commonName A>G TP53_g.12404A>G protEffect p.Lys139Arg TP53_g.16952A>G commonName A>G TP53_g.16952A>G protEffect p.Gln354Arg TP53_g.12442C>G commonName C>G TP53_g.12442C>G protEffect p.Pro152Ala TP53_g.30017_30018ins1200 commonName ins1200 TP53_g.13391del commonName del1 TP53_g.11536C>T commonName C>T TP53_g.11536C>T protEffect p.Thr102Ile TP53_g.11580G>C commonName G>C TP53_g.11580G>C protEffect p.Gly117Arg TP53_g.11433G>C commonName G>C TP53_g.11433G>C protEffect p.Glu68Gln TP53_g.11543G>C commonName G>C TP53_g.11543G>C protEffect p.Gln104His TP53_g.12512_12513del commonName del2 TP53_g.13358T>A commonName T>A TP53_g.13358T>A protEffect p.Ser241Thr TP53_g.13833del commonName del1 TP53_g.13842del commonName del1 TP53_g.13356G>C commonName G>C TP53_g.13356G>C protEffect p.Ser240Thr TP53_g.13896del commonName del1 TP53_g.12461_12462delinsTT commonName GC>TT TP53_g.12461_12462delinsTT protEffect p.Arg158Leu TP53_g.12504T>G commonName T>G TP53_g.12504T>G protEffect p.Val172Val TP53_g.13726_13770del commonName del45 TP53_g.13410A>T commonName A>T TP53_g.13410A>T protEffect p.Glu258Val TP53_g.13786G>T commonName G>T TP53_g.13786G>T protEffect p.Ser269Ile TP53_g.13369C>T commonName C>T TP53_g.13369C>T protEffect p.Gly244Gly TP53_g.12402_12403ins4 commonName ins4 TP53_g.13788_13809del commonName del22 TP53_g.12463G>A commonName G>A TP53_g.12463G>A protEffect p.Ala159Thr TP53_g.30015_30022del commonName del8 TP53_g.30014_30015ins6 commonName ins6 TP53_g.30016_30017ins5 commonName ins5 TP53_g.12457G>A commonName G>A TP53_g.12457G>A protEffect p.Val157Ile TP53_g.12650T>A commonName T>A TP53_g.12650T>A protEffect p.Leu194His TP53_g.12666A>G commonName A>G TP53_g.12666A>G protEffect p.Gly199Gly TP53_g.13840A>G commonName A>G TP53_g.13840A>G protEffect p.Glu287Gly TP53_g.12474C>T commonName C>T TP53_g.12474C>T protEffect p.Ile162Ile TP53_g.14035A>G commonName A>G TP53_g.14035A>G protEffect p.Lys321Lys TP53_g.12509G>A commonName G>A TP53_g.12509G>A protEffect p.Arg174Lys TP53_g.12657A>G commonName A>G TP53_g.12657A>G protEffect p.Arg196Arg TP53_g.12644A>G commonName A>G TP53_g.12644A>G protEffect p.Gln192Arg TP53_g.12417G>A commonName G>A TP53_g.12417G>A protEffect p.Val143Val TP53_g.12453C>T commonName C>T TP53_g.12453C>T protEffect p.Thr155Thr TP53_g.12454del commonName del1 TP53_g.12635C>T commonName C>T TP53_g.12635C>T protEffect p.Ala189Val TP53_g.12709C>T commonName C>T TP53_g.12709C>T protEffect p.His214Tyr TP53_g.12451del commonName del1 TP53_g.12451_12452del commonName del2 TP53_g.13787C>T commonName C>T TP53_g.13787C>T protEffect p.Ser269Ser TP53_g.12371C>T commonName C>T TP53_g.12371C>T protEffect p.Pro128Leu TP53_g.12395A>G commonName A>G TP53_g.12395A>G protEffect p.Gln136Arg TP53_g.13797_13798delinsAA commonName CG>AA TP53_g.13797_13798delinsAA protEffect p.Arg273Asn TP53_g.13893del commonName del1 TP53_g.13812del commonName del1 TP53_g.13361T>G commonName T>G TP53_g.13361T>G protEffect p.Cys242Gly TP53_g.12454C>G commonName C>G TP53_g.12454C>G protEffect p.Arg156Gly TP53_g.12413C>T commonName C>T TP53_g.12413C>T protEffect p.Pro142Leu TP53_g.12376C>T commonName C>T TP53_g.12376C>T protEffect p.Leu130Phe TP53_g.13850C>G commonName C>G TP53_g.13850C>G protEffect p.Arg290Arg TP53_g.12493A>G commonName A>G TP53_g.12493A>G protEffect p.Met169Val TP53_g.12665G>C commonName G>C TP53_g.12665G>C protEffect p.Gly199Ala TP53_g.13366G>A commonName G>A TP53_g.13366G>A protEffect p.Met243Ile TP53_g.13867A>G commonName A>G TP53_g.13867A>G protEffect p.His296Arg TP53_g.13856A>G commonName A>G TP53_g.13856A>G protEffect p.Lys292Lys TP53_g.13791G>C commonName G>C TP53_g.13791G>C protEffect p.Glu271Gln TP53_g.13416C>T commonName C>T TP53_g.13416C>T protEffect p.Ser260Phe TP53_g.12445C>T commonName C>T TP53_g.12445C>T protEffect p.Pro153Ser TP53_g.12417del commonName del1 TP53_g.13873A>C commonName A>C TP53_g.13873A>C protEffect p.Glu298Ala TP53_g.12451A>C commonName A>C TP53_g.12451A>C protEffect p.Thr155Pro TP53_g.16895G>T commonName G>T TP53_g.16895G>T protEffect p.Arg335Leu TP53_g.16905C>T commonName C>T TP53_g.16905C>T protEffect p.Phe338Phe TP53_g.12481_12495del commonName del15 TP53_g.12456_12457delinsGT commonName CG>GT TP53_g.12456_12457delinsGT protEffect V157F TP53_g.12457del commonName del1 TP53_g.13351T>C commonName T>C TP53_g.13351T>C protEffect p.Cys238Cys TP53_g.12501G>A commonName G>A TP53_g.12501G>A protEffect p.Glu171Glu TP53_g.13351T>G commonName T>G TP53_g.13351T>G protEffect p.Cys238Trp TP53_g.13825del commonName del1 TP53_g.12631_12642del commonName del12 TP53_g.12708_12709ins1 commonName ins1 TP53_g.12716T>C commonName T>C TP53_g.12716T>C protEffect p.Val216Ala TP53_g.12721G>C commonName G>C TP53_g.12721G>C protEffect p.Val218Leu TP53_g.13810G>C commonName G>C TP53_g.13810G>C protEffect p.Cys277Ser TP53_g.13864C>T commonName C>T TP53_g.13864C>T protEffect p.Pro295Leu TP53_g.12547del commonName del1 TP53_g.13382_13387del commonName del6 TP53_g.12390_12391ins2 commonName ins2 TP53_g.13770_13772del commonName del3 TP53_g.12389T>G commonName T>G TP53_g.12389T>G protEffect p.Phe134Cys TP53_g.12444_12445ins9 commonName ins9 TP53_g.13360_13361ins4 commonName ins4 TP53_g.12505del commonName del1 TP53_g.12544del commonName del1 TP53_g.11327_11328ins1 commonName ins1 TP53_g.12485C>A commonName C>A TP53_g.12485C>A protEffect p.Ser166STOP TP53_g.12694A>C commonName A>C TP53_g.12694A>C protEffect p.Arg209Arg TP53_g.12499del commonName del1 TP53_g.12507_12508ins1 commonName ins1 TP53_g.12460_12461del commonName del2 TP53_g.12400_12402del commonName del3 TP53_g.13807C>G commonName C>G TP53_g.13807C>G protEffect p.Ala276Gly TP53_g.12458T>G commonName T>G TP53_g.12458T>G protEffect p.Val157Gly TP53_g.11580del commonName del1 TP53_g.12451_12458del commonName del8 TP53_g.13811T>A commonName T>A TP53_g.13811T>A protEffect p.Cys277STOP TP53_g.12721_12723del commonName del3 TP53_g.13417_13418ins4 commonName ins4 TP53_g.13393C>T commonName C>T TP53_g.13393C>T protEffect p.Leu252Leu TP53_g.13399C>T commonName C>T TP53_g.13399C>T protEffect p.Ile254Ile TP53_g.12664del commonName del1 TP53_g.13800del commonName del1 TP53_g.13768A>G commonName A>G TP53_g.13768A>G protEffect p.Asn263Ser TP53_g.13800G>A commonName G>A TP53_g.13800G>A protEffect p.Val274Ile TP53_g.13843A>G commonName A>G TP53_g.13843A>G protEffect p.Asn288Ser TP53_g.11430C>T commonName C>T TP53_g.11430C>T protEffect p.Pro67Ser TP53_g.12460_12467del commonName del8 TP53_g.11608T>C commonName T>C TP53_g.13862G>A commonName G>A TP53_g.13862G>A protEffect p.Glu294Glu TP53_g.12522_12523delinsAT commonName CC>AT TP53_g.12522_12523delinsAT protEffect H178Q;H179S] TP53_g.12495G>A commonName G>A TP53_g.12495G>A protEffect p.Met169Ile TP53_g.14048G>T commonName G>T TP53_g.14048G>T protEffect p.Glu326STOP TP53_g.11552C>G commonName C>G TP53_g.11552C>G protEffect p.Tyr107STOP TP53_g.11559C>G commonName C>G TP53_g.11559C>G protEffect p.Arg110Gly TP53_g.13991G>T commonName G>T TP53_g.12738_12739ins5 commonName ins5 TP53_g.12499_12544del commonName del46 TP53_g.13857_13858del commonName del2 TP53_g.13815G>C commonName G>C TP53_g.13815G>C protEffect p.Gly279Arg TP53_g.12490del commonName del1 TP53_g.11385C>T commonName C>T TP53_g.11385C>T protEffect p.Gln52STOP TP53_g.11508C>T commonName C>T TP53_g.11508C>T protEffect p.Leu93Leu TP53_g.12673C>T commonName C>T TP53_g.12673C>T protEffect p.Arg202Cys TP53_g.13420_13761del commonName del342(del intron7) TP53_g.12490C>T commonName C>T TP53_g.12490C>T protEffect p.His168Tyr TP53_g.13326C>T commonName C>T TP53_g.13326C>T protEffect p.Thr230Ile TP53_g.13320A>C commonName A>C TP53_g.13320A>C protEffect p.Asp228Ala TP53_g.13341A>T commonName A>T TP53_g.13341A>T protEffect p.Asn235Ile TP53_g.13327C>A commonName C>A TP53_g.13327C>A protEffect p.Thr230Thr TP53_g.13376A>T commonName A>T TP53_g.13376A>T protEffect p.Asn247Tyr TP53_g.13337_13339del commonName del3 TP53_g.11285_11360del commonName del76 TP53_g.12442del commonName del1 TP53_g.12457G>C commonName G>C TP53_g.12457G>C protEffect p.Val157Leu TP53_g.13391C>T commonName C>T TP53_g.13391C>T protEffect p.Leu252Phe TP53_g.12661G>C commonName G>C TP53_g.12661G>C protEffect p.Glu198Gln TP53_g.13381G>C commonName G>C TP53_g.13381G>C protEffect p.Arg248Arg TP53_g.13381G>A commonName G>A TP53_g.13381G>A protEffect p.Arg248Arg TP53_g.11557T>C commonName T>C TP53_g.11557T>C protEffect p.Phe109Ser TP53_g.12714T>G commonName T>G TP53_g.12714T>G protEffect p.Ser215Arg TP53_g.13792_13795del commonName del4 TP53_g.12651_12655del commonName del5 TP53_g.13818_13819delinsCC commonName AG>CC TP53_g.13818_13819delinsCC protEffect p.Arg280Pro TP53_g.12722T>G commonName T>G TP53_g.12722T>G protEffect p.Val218Gly TP53_g.12682T>A commonName T>A TP53_g.12682T>A protEffect p.Tyr205Asn TP53_g.13771del commonName del1 TP53_g.11482C>T commonName C>T TP53_g.11482C>T protEffect p.Ala84Val TP53_g.14063C>T commonName C>T TP53_g.14063C>T protEffect p.Gln331STOP TP53_g.11506C>T commonName C>T TP53_g.11506C>T protEffect p.Pro92Leu TP53_g.12669_12670ins1 commonName ins1 TP53_g.12520C>T commonName C>T TP53_g.12520C>T protEffect p.His178Tyr TP53_g.12672_12673delinsTT commonName GC>TT TP53_g.12672_12673delinsTT protEffect L201F;R202C] TP53_g.12675del commonName del1 TP53_g.11091C>T commonName C>T TP53_g.12734C>T commonName C>T TP53_g.12734C>T protEffect p.Pro222Leu TP53_g.12736del commonName del1 TP53_g.12406A>T commonName A>T TP53_g.12406A>T protEffect p.Thr140Ser TP53_g.12725C>T commonName C>T TP53_g.12725C>T protEffect p.Pro219Leu TP53_g.11597del commonName del1 TP53_g.12448_12462del commonName del15 TP53_g.12390_12391ins19 commonName ins19 TP53_g.12642_12643ins20 commonName ins20 TP53_g.13899G>T commonName G>T TP53_g.13899G>T protEffect p.Ala307Ser TP53_g.12727T>A commonName T>A TP53_g.12727T>A protEffect p.Tyr220Asn TP53_g.12561_12562ins1 commonName ins1 TP53_g.13834A>G commonName A>G TP53_g.13834A>G protEffect p.Glu285Gly TP53_g.14018C>A commonName C>A TP53_g.14018C>A protEffect p.Pro316Thr TP53_g.13911G>A commonName G>A TP53_g.11457_11508del commonName del52 TP53_g.12373_12378del commonName del6 TP53_g.14073G>A commonName G>A TP53_g.13790_13791ins2 commonName ins2 TP53_g.11464C>T commonName C>T TP53_g.11464C>T protEffect p.Ala78Val TP53_g.12503T>A commonName T>A TP53_g.12503T>A protEffect p.Val172Asp TP53_g.12628G>C commonName G>C TP53_g.13811_13812ins21 commonName ins21 TP53_g.13394A>T commonName A>T TP53_g.13394A>T protEffect p.Thr253Ser TP53_g.12693_12694ins1 commonName ins1 TP53_g.13387_13388ins5 commonName ins5 TP53_g.11457_11509del commonName del53 TP53_g.16985A>G commonName A>G TP53_g.16985A>G protEffect p.His365Arg TP53_g.12364_12366del commonName del3 TP53_g.16936G>T commonName G>T TP53_g.16936G>T protEffect p.Glu349STOP TP53_g.12655C>A commonName C>A TP53_g.12655C>A protEffect p.Arg196Arg TP53_g.13806G>T commonName G>T TP53_g.13806G>T protEffect p.Ala276Ser TP53_g.12676G>A commonName G>A TP53_g.12676G>A protEffect p.Val203Met TP53_g.13318T>G commonName T>G TP53_g.13318T>G protEffect p.Ser227Ser TP53_g.12526G>T commonName G>T TP53_g.12526G>T protEffect p.Glu180STOP TP53_g.12674G>A commonName G>A TP53_g.12674G>A protEffect p.Arg202His TP53_g.13827_13839del commonName del13 TP53_g.12703_12704del commonName del2 TP53_g.11581G>A commonName G>A TP53_g.11581G>A protEffect p.Gly117Glu TP53_g.13330C>T commonName C>T TP53_g.13330C>T protEffect p.Thr231Thr TP53_g.13378C>T commonName C>T TP53_g.13378C>T protEffect p.Asn247Asn TP53_g.12400_12409del commonName del10 TP53_g.12734C>A commonName C>A TP53_g.12734C>A protEffect p.Pro222Gln TP53_g.12691G>A commonName G>A TP53_g.12691G>A protEffect p.Asp208Asn TP53_g.12388del commonName del1 TP53_g.12695_12696del commonName del2 TP53_g.12700_12701ins1 commonName ins1 TP53_g.12387_12388ins8 commonName ins8 TP53_g.12492del commonName del1 TP53_g.13366del commonName del1 TP53_g.13793G>A commonName G>A TP53_g.13793G>A protEffect p.Glu271Glu TP53_g.12391_12402del commonName del12 TP53_g.12470C>T commonName C>T TP53_g.12470C>T protEffect p.Ala161Val TP53_g.12362A>G commonName A>G TP53_g.12422T>G commonName T>G TP53_g.12422T>G protEffect p.Leu145Arg TP53_g.13309G>C commonName G>C TP53_g.13331_13345del commonName del15 TP53_g.12509G>T commonName G>T TP53_g.12509G>T protEffect p.Arg174Met TP53_g.12505_12542del commonName del38 TP53_g.13794del commonName del1 TP53_g.12416T>A commonName T>A TP53_g.12416T>A protEffect p.Val143Glu TP53_g.13379del commonName del1 TP53_g.11600_11601ins1 commonName ins1 TP53_g.11415_11434del commonName del20 TP53_g.16906_16913del commonName del8 TP53_g.11607_11608ins1 commonName ins1 TP53_g.11378_11379ins1 commonName ins1 TP53_g.14009_14013del commonName del5 TP53_g.16897G>T commonName G>T TP53_g.16897G>T protEffect p.Glu336STOP TP53_g.13860G>A commonName G>A TP53_g.13860G>A protEffect p.Glu294Lys TP53_g.12471C>T commonName C>T TP53_g.12471C>T protEffect p.Ala161Ala TP53_g.12711_12712ins3 commonName ins3 TP53_g.30001_30002ins1 commonName ins1 TP53_g.12450C>T commonName C>T TP53_g.12450C>T protEffect p.Gly154Gly TP53_g.13859G>C commonName G>C TP53_g.13859G>C protEffect p.Gly293Gly TP53_g.12448G>A commonName G>A TP53_g.12448G>A protEffect p.Gly154Ser TP53_g.13345C>T commonName C>T TP53_g.13345C>T protEffect p.Tyr236Tyr TP53_g.13415delinsGC commonName T>GC TP53_g.12468G>A commonName G>A TP53_g.12468G>A protEffect p.Met160Ile TP53_g.14065G>T commonName G>T TP53_g.14065G>T protEffect p.Gln331His TP53_g.12476del commonName del1 TP53_g.13846_13847del commonName del2 TP53_g.13355A>T commonName A>T TP53_g.13355A>T protEffect p.Ser240Cys TP53_g.12524A>C commonName A>C TP53_g.12524A>C protEffect p.His179Pro TP53_g.12696_12701delinsCCCACACGCA commonName AAACAC>CCCACACGCA TP53_g.16963G>A commonName G>A TP53_g.16963G>A protEffect p.Glu358Lys TP53_g.14035del commonName del1 TP53_g.11447_11453del commonName del7 TP53_g.13850C>A commonName C>A TP53_g.13850C>A protEffect p.Arg290Arg TP53_g.11437C>G commonName C>G TP53_g.11437C>G protEffect p.Ala69Gly TP53_g.13337T>A commonName T>A TP53_g.13337T>A protEffect p.Tyr234Asn TP53_g.11410C>T commonName C>T TP53_g.11410C>T protEffect p.Pro60Leu TP53_g.13880C>A commonName C>A TP53_g.13880C>A protEffect p.Pro300Pro TP53_g.14022A>C commonName A>C TP53_g.14022A>C protEffect p.Gln317Pro TP53_g.13877G>C commonName G>C TP53_g.13877G>C protEffect p.Leu299Leu TP53_g.12741G>T commonName G>T TP53_g.12741G>T protEffect p.Glu224Asp TP53_g.12732G>C commonName G>C TP53_g.12732G>C protEffect p.Glu221Asp TP53_g.13314G>A commonName G>A TP53_g.13314G>A protEffect p.Gly226Asp TP53_g.12722T>A commonName T>A TP53_g.12722T>A protEffect p.Val218Glu TP53_g.12411C>A commonName C>A TP53_g.12411C>A protEffect p.Cys141STOP TP53_g.13321C>T commonName C>T TP53_g.13321C>T protEffect p.Asp228Asp TP53_g.13322_13336del commonName del15 TP53_g.13900G>C commonName G>C TP53_g.12508A>G commonName A>G TP53_g.12508A>G protEffect p.Arg174Gly TP53_g.13803_13812del commonName del10 TP53_g.12514_12523del commonName del10 TP53_g.13786G>C commonName G>C TP53_g.13786G>C protEffect p.Ser269Thr TP53_g.13376A>G commonName A>G TP53_g.13376A>G protEffect p.Asn247Asp TP53_g.13408del commonName del1 TP53_g.11400_11416del commonName del17 TP53_g.14042_14043delinsAG commonName GA>AG TP53_g.14042_14043delinsAG protEffect p.Asp324Ser TP53_g.11201del commonName del1 TP53_g.12472_12477del commonName del6 TP53_g.13808_13809ins1 commonName ins1 TP53_g.12456del commonName del1 TP53_g.13360_13364del commonName del5 TP53_g.12462del commonName del1 TP53_g.13393del commonName del1 TP53_g.13839_13852del commonName del14 TP53_g.13785_13788del commonName del4 TP53_g.13316_13317del commonName del2 TP53_g.13328_13329del commonName del2 TP53_g.11565_11571del commonName del7 TP53_g.11589del commonName del1 TP53_g.13388A>T commonName A>T TP53_g.13388A>T protEffect p.Ile251Phe TP53_g.12376C>A commonName C>A TP53_g.12376C>A protEffect p.Leu130Ile TP53_g.13765del commonName del1 TP53_g.13352del commonName del1 TP53_g.12682del commonName del1 TP53_g.12710A>C commonName A>C TP53_g.12710A>C protEffect p.His214Pro TP53_g.13879C>T commonName C>T TP53_g.13879C>T protEffect p.Pro300Leu TP53_g.12483G>A commonName G>A TP53_g.12483G>A protEffect p.Gln165Gln TP53_g.12684T>A commonName T>A TP53_g.12684T>A protEffect p.Tyr205STOP TP53_g.12651T>C commonName T>C TP53_g.12651T>C protEffect p.Leu194Leu TP53_g.12411_12412ins6 commonName ins6 TP53_g.13888G>A commonName G>A TP53_g.13888G>A protEffect p.Ser303Asn TP53_g.13874G>A commonName G>A TP53_g.13874G>A protEffect p.Glu298Glu TP53_g.12560G>A commonName G>A TP53_g.12457_12461del commonName del5 TP53_g.13408G>A commonName G>A TP53_g.13408G>A protEffect p.Leu257Leu TP53_g.13811T>C commonName T>C TP53_g.13811T>C protEffect p.Cys277Cys TP53_g.11347C>T commonName C>T TP53_g.11347C>T protEffect p.Ala39Val TP53_g.12672G>T commonName G>T TP53_g.12672G>T protEffect p.Leu201Phe TP53_g.12423_12424ins1 commonName ins1 TP53_g.11328T>A commonName T>A TP53_g.11328T>A protEffect p.Ser33Thr TP53_g.16945G>C commonName G>C TP53_g.16945G>C protEffect p.Asp352His TP53_g.12676G>T commonName G>T TP53_g.12676G>T protEffect p.Val203Leu TP53_g.12439_12440delinsAT commonName CC>AT TP53_g.12439_12440delinsAT protEffect p.Pro151His TP53_g.13765G>T commonName G>T TP53_g.13765G>T protEffect p.Gly262Val TP53_g.12475del commonName del1 TP53_g.12688_12717del commonName del30 TP53_g.12475_12485del commonName del11 TP53_g.11388T>G commonName T>G TP53_g.11388T>G protEffect p.Trp53Gly TP53_g.12391_12425del commonName del35 TP53_g.13319G>C commonName G>C TP53_g.13319G>C protEffect p.Asp228His TP53_g.11512C>T commonName C>T TP53_g.11512C>T protEffect p.Ser94Leu TP53_g.11520G>T commonName G>T TP53_g.11520G>T protEffect p.Val97Phe TP53_g.13779C>G commonName C>G TP53_g.13779C>G protEffect p.Arg267Gly TP53_g.13806G>A commonName G>A TP53_g.13806G>A protEffect p.Ala276Thr TP53_g.12391T>G commonName T>G TP53_g.12391T>G protEffect p.Cys135Gly TP53_g.12400G>A commonName G>A TP53_g.12400G>A protEffect p.Ala138Thr TP53_g.12406A>C commonName A>C TP53_g.12406A>C protEffect p.Thr140Pro TP53_g.13926G>C commonName G>C TP53_g.30016_30018del commonName del3 TP53_g.12534C>T commonName C>T TP53_g.12534C>T protEffect p.Cys182Cys TP53_g.13917G>C commonName G>C TP53_g.30016_30017del commonName del2 TP53_g.30017_30018ins2 commonName ins2 TP53_g.12489G>T commonName G>T TP53_g.12489G>T protEffect p.Gln167His TP53_g.11056A>T commonName A>T TP53_g.11056A>T protEffect p.Glu17Asp TP53_g.11077A>T commonName A>T TP53_g.11077A>T protEffect p.Lys24Asn TP53_g.13384_13385ins3 commonName ins3 TP53_g.12643_12645del commonName del3 TP53_g.14008C>A commonName C>A TP53_g.14008C>A protEffect p.Thr312Thr TP53_g.12387G>T commonName G>T TP53_g.12387G>T protEffect p.Met133Ile TP53_g.12735G>T commonName G>T TP53_g.12735G>T protEffect p.Pro222Pro TP53_g.13843A>C commonName A>C TP53_g.13843A>C protEffect p.Asn288Thr TP53_g.13774T>A commonName T>A TP53_g.13774T>A protEffect p.Leu265Gln TP53_g.13866C>G commonName C>G TP53_g.13866C>G protEffect p.His296Asp TP53_g.13322T>A commonName T>A TP53_g.13322T>A protEffect p.Cys229Ser TP53_g.13340A>T commonName A>T TP53_g.13340A>T protEffect p.Asn235Tyr TP53_g.11500C>T commonName C>T TP53_g.11500C>T protEffect p.Ser90Phe TP53_g.11564G>A commonName G>A TP53_g.11564G>A protEffect p.Leu111Leu TP53_g.11588C>T commonName C>T TP53_g.11588C>T protEffect p.Ala119Ala TP53_g.12386T>C commonName T>C TP53_g.12386T>C protEffect p.Met133Thr TP53_g.12409T>C commonName T>C TP53_g.12409T>C protEffect p.Cys141Arg TP53_g.12675T>C commonName T>C TP53_g.12675T>C protEffect p.Arg202Arg TP53_g.14049A>G commonName A>G TP53_g.14049A>G protEffect p.Glu326Gly TP53_g.11339G>T commonName G>T TP53_g.11339G>T protEffect p.Pro36Pro TP53_g.11434A>G commonName A>G TP53_g.11434A>G protEffect p.Glu68Gly TP53_g.11582G>T commonName G>T TP53_g.11582G>T protEffect p.Gly117Gly TP53_g.12423G>T commonName G>T TP53_g.12423G>T protEffect p.Leu145Leu TP53_g.12456C>A commonName C>A TP53_g.12456C>A protEffect p.Arg156Arg TP53_g.12713_12714delinsAA commonName GT>AA TP53_g.12713_12714delinsAA protEffect p.Ser215Lys TP53_g.14046G>A commonName G>A TP53_g.14046G>A protEffect p.Gly325Glu TP53_g.11565G>A commonName G>A TP53_g.11565G>A protEffect p.Gly112Ser TP53_g.12500A>G commonName A>G TP53_g.12500A>G protEffect p.Glu171Gly TP53_g.13996G>A commonName G>A TP53_g.13996G>A protEffect p.Leu308Leu TP53_g.11419C>T commonName C>T TP53_g.11419C>T protEffect p.Ala63Val TP53_g.11542A>T commonName A>T TP53_g.11542A>T protEffect p.Gln104Leu TP53_g.14034A>G commonName A>G TP53_g.14034A>G protEffect p.Lys321Arg TP53_g.11574C>T commonName C>T TP53_g.11574C>T protEffect p.His115Tyr TP53_g.12704T>C commonName T>C TP53_g.12704T>C protEffect p.Phe212Ser TP53_g.14054T>C commonName T>C TP53_g.14054T>C protEffect p.Phe328Leu TP53_g.11364C>T commonName C>T TP53_g.11364C>T protEffect p.Leu45Leu TP53_g.11579T>C commonName T>C TP53_g.11579T>C protEffect p.Ser116Ser TP53_g.12641C>G commonName C>G TP53_g.12641C>G protEffect p.Pro191Arg TP53_g.12409T>A commonName T>A TP53_g.12409T>A protEffect p.Cys141Ser TP53_g.13887A>T commonName A>T TP53_g.13887A>T protEffect p.Ser303Cys TP53_g.13341A>C commonName A>C TP53_g.13341A>C protEffect p.Asn235Thr TP53_g.12445_12461del commonName del17 TP53_g.12732G>T commonName G>T TP53_g.12732G>T protEffect p.Glu221Asp TP53_g.13785_13792del commonName del8 TP53_g.12467T>A commonName T>A TP53_g.12467T>A protEffect p.Met160Lys TP53_g.13842A>G commonName A>G TP53_g.13842A>G protEffect p.Asn288Asp TP53_g.13770C>T commonName C>T TP53_g.13770C>T protEffect p.Leu264Leu TP53_g.12462C>A commonName C>A TP53_g.12462C>A protEffect p.Arg158Arg TP53_g.12695G>T commonName G>T TP53_g.12695G>T protEffect p.Arg209Ile TP53_g.13371_13372delinsTA commonName GC>TA TP53_g.13371_13372delinsTA protEffect p.Gly245Val TP53_g.13384_13385delinsTG commonName GC>TG TP53_g.13384_13385delinsTG protEffect R249S;P250A] TP53_g.13383_13384delinsTT commonName GG>TT TP53_g.13383_13384delinsTT protEffect p.Arg249Ile TP53_g.12454_12463del commonName del10 TP53_g.12490_12491delinsGT commonName CA>GT TP53_g.12490_12491delinsGT protEffect p.His168Val TP53_g.11539_11565del commonName del27 TP53_g.13376_13381del commonName del6 TP53_g.13415del commonName del1 TP53_g.12437C>A commonName C>A TP53_g.12437C>A protEffect p.Thr150Lys TP53_g.13367del commonName del1 TP53_g.12731A>G commonName A>G TP53_g.12731A>G protEffect p.Glu221Gly TP53_g.13367G>C commonName G>C TP53_g.13367G>C protEffect p.Gly244Arg TP53_g.13397del commonName del1 TP53_g.13349del commonName del1 TP53_g.11460C>G commonName C>G TP53_g.11460C>G protEffect p.Pro77Ala TP53_g.12535T>C commonName T>C TP53_g.12535T>C protEffect p.Ser183Pro TP53_g.12638_12639ins1 commonName ins1 TP53_g.12420G>C commonName G>C TP53_g.12420G>C protEffect p.Gln144His TP53_g.12735G>C commonName G>C TP53_g.12735G>C protEffect p.Pro222Pro TP53_g.13884del commonName del1 TP53_g.13706A>G commonName A>G TP53_g.12418del commonName del1 TP53_g.12558G>T commonName G>T TP53_g.12484T>G commonName T>G TP53_g.12484T>G protEffect p.Ser166Ala TP53_g.12584T>G commonName T>G TP53_g.12656G>T commonName G>T TP53_g.12656G>T protEffect p.Arg196Leu TP53_g.13795T>G commonName T>G TP53_g.13795T>G protEffect p.Val272Gly TP53_g.11390G>C commonName G>C TP53_g.11390G>C protEffect p.Trp53Cys TP53_g.13781G>A commonName G>A TP53_g.13781G>A protEffect p.Arg267Arg TP53_g.11397G>A commonName G>A TP53_g.11397G>A protEffect p.Glu56Lys TP53_g.12405G>A commonName G>A TP53_g.12405G>A protEffect p.Lys139Lys TP53_g.14025C>T commonName C>T TP53_g.14025C>T protEffect p.Pro318Leu TP53_g.12408C>T commonName C>T TP53_g.12408C>T protEffect p.Thr140Thr TP53_g.12419A>T commonName A>T TP53_g.12419A>T protEffect p.Gln144Leu TP53_g.30014_30015ins42 commonName ins42 TP53_g.12514_12532del commonName del19 TP53_g.13820A>G commonName A>G TP53_g.13820A>G protEffect p.Arg280Arg TP53_g.12485_12486ins1 commonName ins1 TP53_g.11563T>C commonName T>C TP53_g.11563T>C protEffect p.Leu111Pro TP53_g.12472_12473ins1 commonName ins1 TP53_g.12367T>C commonName T>C TP53_g.12367T>C protEffect p.Ser127Pro TP53_g.12650_12651del commonName del2 TP53_g.13395_13396ins1 commonName ins1 TP53_g.13370del commonName del1 TP53_g.12631del commonName del1 TP53_g.13324T>C commonName T>C TP53_g.13324T>C protEffect p.Cys229Cys TP53_g.12667A>G commonName A>G TP53_g.12667A>G protEffect p.Asn200Asp TP53_g.13824_13825delinsTA commonName CG>TA TP53_g.13824_13825delinsTA protEffect R282X TP53_g.12456_12457ins6 commonName ins6 TP53_g.12691_12706del commonName del16 TP53_g.13829_13830ins2 commonName ins2 TP53_g.12524del commonName del1 TP53_g.13325_13326ins1 commonName ins1 TP53_g.13805T>A commonName T>A TP53_g.13805T>A protEffect p.Cys275STOP TP53_g.16966del commonName del1 TP53_g.13373del commonName del1 TP53_g.12672_12673ins1 commonName ins1 TP53_g.12473T>A commonName T>A TP53_g.12473T>A protEffect p.Ile162Asn TP53_g.12733_12741del commonName del9 TP53_g.12433T>A commonName T>A TP53_g.12433T>A protEffect p.Ser149Thr TP53_g.12679_12699del commonName del21 TP53_g.12368C>A commonName C>A TP53_g.12368C>A protEffect p.Ser127Tyr TP53_g.13846T>C commonName T>C TP53_g.13846T>C protEffect p.Leu289Pro TP53_g.13418A>G commonName A>G TP53_g.13418A>G protEffect p.Ser261Gly TP53_g.12455G>A commonName G>A TP53_g.12455G>A protEffect p.Arg156His TP53_g.13785A>G commonName A>G TP53_g.13785A>G protEffect p.Ser269Gly TP53_g.12391del commonName del1 TP53_g.13814del commonName del1 TP53_g.12718_12731del commonName del14 TP53_g.13331_13336del commonName del6 TP53_g.13352_13362del commonName del11 TP53_g.13836G>C commonName G>C TP53_g.13836G>C protEffect p.Glu286Gln TP53_g.12715G>C commonName G>C TP53_g.12715G>C protEffect p.Val216Leu TP53_g.12484T>A commonName T>A TP53_g.12484T>A protEffect p.Ser166Thr TP53_g.12648T>C commonName T>C TP53_g.12648T>C protEffect p.His193His TP53_g.12466A>C commonName A>C TP53_g.12466A>C protEffect p.Met160Leu TP53_g.12705T>A commonName T>A TP53_g.12705T>A protEffect p.Phe212Leu TP53_g.12660G>A commonName G>A TP53_g.12660G>A protEffect p.Val197Val TP53_g.13364A>G commonName A>G TP53_g.13364A>G protEffect p.Met243Val TP53_g.12482A>C commonName A>C TP53_g.12482A>C protEffect p.Gln165Pro TP53_g.13396C>T commonName C>T TP53_g.13396C>T protEffect p.Thr253Thr TP53_g.12718_12720delinsATA commonName GTG>ATA TP53_g.12718_12720delinsATA protEffect V217I TP53_g.11368_11369del commonName del2 TP53_g.12540_12541del commonName del2 TP53_g.12490_12496del commonName del7 TP53_g.12513_12514delinsTA commonName CT>TA TP53_g.12513_12514delinsTA protEffect C176S TP53_g.12381_12382ins2 commonName ins2 TP53_g.13342_13343ins1 commonName ins1 TP53_g.13931G>A commonName G>A TP53_g.13824C>A commonName C>A TP53_g.13824C>A protEffect p.Arg282Arg TP53_g.13897G>C commonName G>C TP53_g.13897G>C protEffect p.Arg306Pro TP53_g.13857G>C commonName G>C TP53_g.13857G>C protEffect p.Gly293Arg TP53_g.12488A>T commonName A>T TP53_g.12488A>T protEffect p.Gln167Leu TP53_g.12431A>C commonName A>C TP53_g.12431A>C protEffect p.Asp148Ala TP53_g.12450_12451ins2 commonName ins2 TP53_g.13385C>A commonName C>A TP53_g.13385C>A protEffect p.Pro250Thr TP53_g.11475_11482del commonName del8 TP53_g.12379A>T commonName A>T TP53_g.12379A>T protEffect p.Asn131Tyr TP53_g.11398A>T commonName A>T TP53_g.11398A>T protEffect p.Glu56Val TP53_g.11451_11461del commonName del11 TP53_g.11585A>G commonName A>G TP53_g.11585A>G protEffect p.Thr118Thr TP53_g.12549T>G commonName T>G TP53_g.12551A>T commonName A>T TP53_g.12540T>C commonName T>C TP53_g.12540T>C protEffect p.Asp184Asp TP53_g.12496A>C commonName A>C TP53_g.12496A>C protEffect p.Thr170Pro TP53_g.12492C>T commonName C>T TP53_g.12492C>T protEffect p.His168His TP53_g.16913T>G commonName T>G TP53_g.16913T>G protEffect p.Phe341Cys TP53_g.13361del commonName del1 TP53_g.13764_13766del commonName del3 TP53_g.16970G>T commonName G>T TP53_g.16970G>T protEffect p.Gly360Val TP53_g.13405_13406ins1 commonName ins1 TP53_g.12388T>A commonName T>A TP53_g.12388T>A protEffect p.Phe134Ile TP53_g.13767del commonName del1 TP53_g.13899del commonName del1 TP53_g.13418del commonName del1 TP53_g.13421_13430del commonName del10 TP53_g.12454_12455del commonName del2 TP53_g.13370_13371delinsCT commonName GG>CT TP53_g.13370_13371delinsCT protEffect p.Gly245Leu TP53_g.12672G>A commonName G>A TP53_g.12672G>A protEffect p.Leu201Leu TP53_g.12478_12484del commonName del7 TP53_g.13399_13400ins1 commonName ins1 TP53_g.12697_12703del commonName del7 TP53_g.12675_12676ins2 commonName ins2 TP53_g.13384_13385ins5 commonName ins5 TP53_g.13334_13339del commonName del6 TP53_g.12436_12448del commonName del13 TP53_g.13375_13376ins1 commonName ins1 TP53_g.12498_12499ins2 commonName ins2 TP53_g.13796_13797ins1 commonName ins1 TP53_g.13848_13852del commonName del5 TP53_g.12689A>G commonName A>G TP53_g.12689A>G protEffect p.Asp207Gly TP53_g.12523del commonName del1 TP53_g.13823_13824ins6 commonName ins6 TP53_g.12698A>T commonName A>T TP53_g.12698A>T protEffect p.Asn210Ile TP53_g.12663A>T commonName A>T TP53_g.12663A>T protEffect p.Glu198Asp TP53_g.13797_13798del commonName del2 TP53_g.13832A>T commonName A>T TP53_g.13832A>T protEffect p.Thr284Thr TP53_g.13317C>T commonName C>T TP53_g.13317C>T protEffect p.Ser227Phe TP53_g.12691G>T commonName G>T TP53_g.12691G>T protEffect p.Asp208Tyr TP53_g.12468G>C commonName G>C TP53_g.12468G>C protEffect p.Met160Ile TP53_g.13319G>A commonName G>A TP53_g.13319G>A protEffect p.Asp228Asn TP53_g.12420G>A commonName G>A TP53_g.12420G>A protEffect p.Gln144Gln TP53_g.12701C>A commonName C>A TP53_g.12701C>A protEffect p.Thr211Asn TP53_g.13403A>T commonName A>T TP53_g.13403A>T protEffect p.Thr256Ser TP53_g.13866_13889del commonName del24 TP53_g.12433T>C commonName T>C TP53_g.12433T>C protEffect p.Ser149Pro TP53_g.13797_13800del commonName del4 TP53_g.13890A>G commonName A>G TP53_g.13890A>G protEffect p.Thr304Ala TP53_g.13854A>C commonName A>C TP53_g.13854A>C protEffect p.Lys292Gln TP53_g.13790T>A commonName T>A TP53_g.13790T>A protEffect p.Phe270Leu TP53_g.11476C>T commonName C>T TP53_g.11476C>T protEffect p.Pro82Leu TP53_g.13779_13787del commonName del9 TP53_g.12721G>T commonName G>T TP53_g.12721G>T protEffect p.Val218Leu TP53_g.13331del commonName del1 TP53_g.12702del commonName del1 TP53_g.12470del commonName del1 TP53_g.13901T>A commonName T>A TP53_g.12378C>G commonName C>G TP53_g.12378C>G protEffect p.Leu130Leu TP53_g.12437C>T commonName C>T TP53_g.12437C>T protEffect p.Thr150Ile TP53_g.12430G>T commonName G>T TP53_g.12430G>T protEffect p.Asp148Tyr TP53_g.12367del commonName del1 TP53_g.12434C>T commonName C>T TP53_g.12434C>T protEffect p.Ser149Phe TP53_g.13833G>T commonName G>T TP53_g.13833G>T protEffect p.Glu285STOP TP53_g.13325_13335del commonName del11 TP53_g.13394_13397del commonName del4 TP53_g.13388_13396del commonName del9 TP53_g.13414C>A commonName C>A TP53_g.13414C>A protEffect p.Asp259Glu TP53_g.13409_13415del commonName del7 TP53_g.12737C>A commonName C>A TP53_g.12737C>A protEffect p.Pro223His TP53_g.12487_12489del commonName del3 TP53_g.12469del commonName del1 TP53_g.12513C>G commonName C>G TP53_g.12513C>G protEffect p.Arg175Arg TP53_g.12415_12446del commonName del32 TP53_g.12679_12703del commonName del25 TP53_g.11436del commonName del1 TP53_g.11391_11403del commonName del13 TP53_g.11547_11561del commonName del15 TP53_g.12711_12712ins1 commonName ins1 TP53_g.13315C>T commonName C>T TP53_g.13315C>T protEffect p.Gly226Gly TP53_g.12720G>A commonName G>A TP53_g.12720G>A protEffect p.Val217Val TP53_g.12723G>A commonName G>A TP53_g.12723G>A protEffect p.Val218Val TP53_g.12714T>C commonName T>C TP53_g.12714T>C protEffect p.Ser215Ser TP53_g.11484C>T commonName C>T TP53_g.11484C>T protEffect p.Pro85Ser TP53_g.11496C>T commonName C>T TP53_g.11496C>T protEffect p.Pro89Ser TP53_g.11533A>G commonName A>G TP53_g.11533A>G protEffect p.Lys101Arg TP53_g.12382_12383delinsTG commonName AA>TG TP53_g.12382_12383delinsTG protEffect p.Lys132Trp TP53_g.11368C>T commonName C>T TP53_g.11368C>T protEffect p.Ser46Phe TP53_g.11595G>T commonName G>T TP53_g.11595G>T protEffect p.Val122Leu TP53_g.11540C>T commonName C>T TP53_g.11540C>T protEffect p.Tyr103Tyr TP53_g.13835G>A commonName G>A TP53_g.13835G>A protEffect p.Glu285Glu TP53_g.13857G>A commonName G>A TP53_g.13857G>A protEffect p.Gly293Arg TP53_g.11546C>T commonName C>T TP53_g.11546C>T protEffect p.Gly105Gly TP53_g.11554G>A commonName G>A TP53_g.11554G>A protEffect p.Gly108Asp TP53_g.12733C>T commonName C>T TP53_g.12733C>T protEffect p.Pro222Ser TP53_g.13765G>A commonName G>A TP53_g.13765G>A protEffect p.Gly262Asp TP53_g.13802T>C commonName T>C TP53_g.13802T>C protEffect p.Val274Val TP53_g.13821_13823delinsCGG commonName GAC>CGG TP53_g.13821_13823delinsCGG protEffect D281R TP53_g.16980G>A commonName G>A TP53_g.16980G>A protEffect p.Arg363Arg TP53_g.13315_13316ins1 commonName ins1 TP53_g.13338A>T commonName A>T TP53_g.13338A>T protEffect p.Tyr234Phe TP53_g.13343_13348del commonName del6 TP53_g.12448_12454del commonName del7 TP53_g.14066_14068delinsC commonName GTA>C TP53_g.13827_13828del commonName del2 TP53_g.12517_12533del commonName del17 TP53_g.12533G>C commonName G>C TP53_g.12533G>C protEffect p.Cys182Ser TP53_g.12508_12534del commonName del27 TP53_g.13357_13358del commonName del2 TP53_g.13776_13784del commonName del9 TP53_g.13340_13346del commonName del7 TP53_g.12507_12508ins12 commonName ins12 TP53_g.13352_13363del commonName del12 TP53_g.13899_13911del commonName del13 TP53_g.11569T>G commonName T>G TP53_g.11569T>G protEffect p.Phe113Cys TP53_g.11430del commonName del1 TP53_g.13400del commonName del1 TP53_g.13055_14754del commonName del exon5-9 TP53_g.12712A>T commonName A>T TP53_g.12712A>T protEffect p.Ser215Cys TP53_g.12429del commonName del1 TP53_g.14452_14588del commonName del exon8 TP53_g.12451_12471del commonName del21 TP53_g.12475_12483del commonName del9 TP53_g.13320_13432del commonName del exon6 TP53_g.11484_11500del commonName del17 TP53_g.11406_11605del commonName del200 TP53_g.13841G>C commonName G>C TP53_g.13841G>C protEffect p.Glu287Asp TP53_g.12739G>A commonName G>A TP53_g.12739G>A protEffect p.Glu224Lys TP53_g.13764_13786del commonName del23 TP53_g.13770C>A commonName C>A TP53_g.13770C>A protEffect p.Leu264Ile TP53_g.11447_11646del commonName del200 TP53_g.16935G>T commonName G>T TP53_g.16935G>T protEffect p.Leu348Phe TP53_g.12495_12496ins3 commonName ins3 TP53_g.11572T>A commonName T>A TP53_g.11572T>A protEffect p.Leu114STOP TP53_g.12444_12445ins1 commonName ins1 TP53_g.16981G>A commonName G>A TP53_g.16981G>A protEffect p.Ala364Thr TP53_g.13310_13315del commonName del6 TP53_g.11451del commonName del1 TP53_g.12451_12456del commonName del6 TP53_g.11427_11434del commonName del8 TP53_g.13403_13409del commonName del7 TP53_g.16918G>T commonName G>T TP53_g.16918G>T protEffect p.Glu343STOP TP53_g.17572_17678del commonName del exon10 TP53_g.11601T>C commonName T>C TP53_g.11601T>C protEffect p.Cys124Arg TP53_g.11441_11442ins4 commonName ins4 TP53_g.12370del commonName del1 TP53_g.11382del commonName del1 TP53_g.12498G>A commonName G>A TP53_g.12498G>A protEffect p.Thr170Thr TP53_g.12436_12441del commonName del6 TP53_g.11484_11497del commonName del14 TP53_g.12653T>A commonName T>A TP53_g.12653T>A protEffect p.Ile195Asn TP53_g.14012_14030del commonName del19 TP53_g.14681_14754del commonName del exon9 TP53_g.13386_13387delinsTT commonName CC>TT TP53_g.13386_13387delinsTT protEffect p.Pro250Leu TP53_g.12493del commonName del1 TP53_g.12532T>C commonName T>C TP53_g.12532T>C protEffect p.Cys182Arg TP53_g.12442C>A commonName C>A TP53_g.12442C>A protEffect p.Pro152Thr TP53_g.12469_12471delinsACT commonName GCC>ACT TP53_g.12469_12471delinsACT protEffect A161T TP53_g.12379A>G commonName A>G TP53_g.12379A>G protEffect p.Asn131Asp TP53_g.13869_13871del commonName del3 TP53_g.13322_13340del commonName del19 TP53_g.13782_13785del commonName del4 TP53_g.12339_12340ins1 commonName ins1 TP53_g.13326del commonName del1 TP53_g.11198del commonName del1 TP53_g.12548G>T commonName G>T TP53_g.14067T>C commonName T>C TP53_g.12362A>T commonName A>T TP53_g.12545A>T commonName A>T TP53_g.12545A>T protEffect p.Asp186Val TP53_g.12710del commonName del1 TP53_g.12645G>A commonName G>A TP53_g.12645G>A protEffect p.Gln192Gln TP53_g.13818A>C commonName A>C TP53_g.13818A>C protEffect p.Arg280Arg TP53_g.11363G>T commonName G>T TP53_g.11363G>T protEffect p.Met44Ile TP53_g.13344A>C commonName A>C TP53_g.13344A>C protEffect p.Tyr236Ser TP53_g.13365T>C commonName T>C TP53_g.13365T>C protEffect p.Met243Thr TP53_g.13893A>G commonName A>G TP53_g.13893A>G protEffect p.Lys305Glu TP53_g.12481C>G commonName C>G TP53_g.12481C>G protEffect p.Gln165Glu TP53_g.12517_12518delinsAT commonName CC>AT TP53_g.12517_12518delinsAT protEffect p.Pro177Ile TP53_g.13406del commonName del1 TP53_g.13766_13767ins5 commonName ins5 TP53_g.13818del commonName del1 TP53_g.12517_12525del commonName del9 TP53_g.13412_13413ins1 commonName ins1 TP53_g.13892T>G commonName T>G TP53_g.13892T>G protEffect p.Thr304Thr TP53_g.12522C>T commonName C>T TP53_g.12522C>T protEffect p.His178His TP53_g.12497C>A commonName C>A TP53_g.12497C>A protEffect p.Thr170Lys TP53_g.12706C>G commonName C>G TP53_g.12706C>G protEffect p.Arg213Gly TP53_g.13837A>T commonName A>T TP53_g.13837A>T protEffect p.Glu286Val TP53_g.12479A>G commonName A>G TP53_g.12479A>G protEffect p.Lys164Arg TP53_g.12421C>G commonName C>G TP53_g.12421C>G protEffect p.Leu145Val TP53_g.13331A>G commonName A>G TP53_g.13331A>G protEffect p.Ile232Val TP53_g.13860G>C commonName G>C TP53_g.13860G>C protEffect p.Glu294Gln TP53_g.12425G>T commonName G>T TP53_g.12425G>T protEffect p.Trp146Leu TP53_g.13407T>G commonName T>G TP53_g.13407T>G protEffect p.Leu257Arg TP53_g.11036G>A commonName G>A TP53_g.11036G>A protEffect p.Glu11Lys TP53_g.12548G>C commonName G>C TP53_g.13385_13391del commonName del7 TP53_g.12666_12667ins1 commonName ins1 TP53_g.11503G>A commonName G>A TP53_g.11503G>A protEffect p.Trp91STOP TP53_g.11446del commonName del1 TP53_g.13319_13320del commonName del2 TP53_g.12720G>C commonName G>C TP53_g.12720G>C protEffect p.Val217Val TP53_g.13875del commonName del1 TP53_g.12539_12540del commonName del2 TP53_g.12634G>A commonName G>A TP53_g.12634G>A protEffect p.Ala189Thr TP53_g.12716del commonName del1 TP53_g.13786G>A commonName G>A TP53_g.13786G>A protEffect p.Ser269Asn TP53_g.12470C>G commonName C>G TP53_g.12470C>G protEffect p.Ala161Gly TP53_g.11393_11394ins1 commonName ins1 TP53_g.11390G>A commonName G>A TP53_g.11390G>A protEffect p.Trp53STOP TP53_g.13399del commonName del1 TP53_g.13816_13817delinsAA commonName GG>AA TP53_g.13816_13817delinsAA protEffect p.Gly279Glu TP53_g.12490_12499del commonName del10 TP53_g.12445_12449del commonName del5 TP53_g.12724C>A commonName C>A TP53_g.12724C>A protEffect p.Pro219Thr TP53_g.12730G>A commonName G>A TP53_g.12730G>A protEffect p.Glu221Lys TP53_g.14009_14040del commonName del32 TP53_g.13797_13805del commonName del9 TP53_g.12715del commonName del1 TP53_g.13779del commonName del1 TP53_g.12686T>A commonName T>A TP53_g.12686T>A protEffect p.Leu206STOP TP53_g.13321C>A commonName C>A TP53_g.13321C>A protEffect p.Asp228Glu TP53_g.12547G>C commonName G>C TP53_g.12547G>C protEffect p.Gly187Arg TP53_g.13415_13416del commonName del2 TP53_g.12403A>C commonName A>C TP53_g.12403A>C protEffect p.Lys139Gln TP53_g.11518C>T commonName C>T TP53_g.11518C>T protEffect p.Ser96Phe TP53_g.13372C>A commonName C>A TP53_g.13372C>A protEffect p.Gly245Gly TP53_g.13856_13857ins1 commonName ins1 TP53_g.12740A>T commonName A>T TP53_g.12740A>T protEffect p.Glu224Val TP53_g.12460_12466del commonName del7 TP53_g.11547_11549del commonName del3 TP53_g.12487C>A commonName C>A TP53_g.12487C>A protEffect p.Gln167Lys TP53_g.12500A>T commonName A>T TP53_g.12500A>T protEffect p.Glu171Val TP53_g.13333C>A commonName C>A TP53_g.13333C>A protEffect p.Ile232Ile TP53_g.12726C>G commonName C>G TP53_g.12726C>G protEffect p.Pro219Pro TP53_g.13326C>A commonName C>A TP53_g.13326C>A protEffect p.Thr230Asn TP53_g.12687G>C commonName G>C TP53_g.12687G>C protEffect p.Leu206Phe TP53_g.13385_13393del commonName del9 TP53_g.13882del commonName del1 TP53_g.13354C>G commonName C>G TP53_g.13354C>G protEffect p.Asn239Lys TP53_g.13790T>G commonName T>G TP53_g.13790T>G protEffect p.Phe270Leu TP53_g.12399G>T commonName G>T TP53_g.12399G>T protEffect p.Leu137Leu TP53_g.12423G>C commonName G>C TP53_g.12423G>C protEffect p.Leu145Leu TP53_g.12424T>C commonName T>C TP53_g.12424T>C protEffect p.Trp146Arg TP53_g.12637C>A commonName C>A TP53_g.12637C>A protEffect p.Pro190Thr TP53_g.13409_13410delinsTT commonName GA>TT TP53_g.13409_13410delinsTT protEffect p.Glu258Leu TP53_g.11511del commonName del1 TP53_g.12390T>G commonName T>G TP53_g.12390T>G protEffect p.Phe134Leu TP53_g.13342_13343ins4 commonName ins4 TP53_g.11552C>A commonName C>A TP53_g.11552C>A protEffect p.Tyr107STOP TP53_g.30002del commonName del1 TP53_g.12403del commonName del1 TP53_g.13387_13388ins3 commonName ins3 TP53_g.13364del commonName del1 TP53_g.13895G>T commonName G>T TP53_g.13895G>T protEffect p.Lys305Asn TP53_g.13803T>A commonName T>A TP53_g.13803T>A protEffect p.Cys275Ser TP53_g.13372C>G commonName C>G TP53_g.13372C>G protEffect p.Gly245Gly TP53_g.13767A>G commonName A>G TP53_g.13767A>G protEffect p.Asn263Asp TP53_g.13851A>C commonName A>C TP53_g.13851A>C protEffect p.Lys291Gln TP53_g.13885G>C commonName G>C TP53_g.13885G>C protEffect p.Gly302Ala TP53_g.13352A>T commonName A>T TP53_g.13352A>T protEffect p.Asn239Tyr TP53_g.13826G>T commonName G>T TP53_g.13826G>T protEffect p.Arg282Arg TP53_g.13854_13855delinsGG commonName AA>GG TP53_g.13854_13855delinsGG protEffect p.Lys292Gly TP53_g.13859G>T commonName G>T TP53_g.13859G>T protEffect p.Gly293Gly TP53_g.13872G>C commonName G>C TP53_g.13872G>C protEffect p.Glu298Gln TP53_g.13874G>T commonName G>T TP53_g.13874G>T protEffect p.Glu298Asp TP53_g.13837_13838delinsGT commonName AA>GT TP53_g.13837_13838delinsGT protEffect p.Glu286Gly TP53_g.16951C>G commonName C>G TP53_g.16951C>G protEffect p.Gln354Glu TP53_g.13876T>A commonName T>A TP53_g.13876T>A protEffect p.Leu299Gln TP53_g.17988_17989ins20 commonName ins20 TP53_g.11504_11505ins1 commonName ins1 TP53_g.12364T>G commonName T>G TP53_g.12364T>G protEffect p.Tyr126Asp TP53_g.13395C>A commonName C>A TP53_g.13395C>A protEffect p.Thr253Asn TP53_g.13309_13310ins4 commonName ins4 TP53_g.13352A>C commonName A>C TP53_g.13352A>C protEffect p.Asn239His TP53_g.13386C>A commonName C>A TP53_g.13386C>A protEffect p.Pro250His TP53_g.13394A>G commonName A>G TP53_g.13394A>G protEffect p.Thr253Ala TP53_g.12549T>C commonName T>C TP53_g.12370_12406del commonName del37 TP53_g.12516C>A commonName C>A TP53_g.12516C>A protEffect p.Cys176STOP TP53_g.12520_12521ins2 commonName ins2 TP53_g.12482_12483ins1 commonName ins1 TP53_g.12405G>T commonName G>T TP53_g.12405G>T protEffect p.Lys139Asn TP53_g.12452C>T commonName C>T TP53_g.12452C>T protEffect p.Thr155Ile TP53_g.12387G>A commonName G>A TP53_g.12387G>A protEffect p.Met133Ile TP53_g.13384G>A commonName G>A TP53_g.13384G>A protEffect p.Arg249Arg TP53_g.12401C>A commonName C>A TP53_g.12401C>A protEffect p.Ala138Asp TP53_g.13872_13885del commonName del14 TP53_g.12697A>G commonName A>G TP53_g.12697A>G protEffect p.Asn210Asp TP53_g.12697A>C commonName A>C TP53_g.12697A>C protEffect p.Asn210His TP53_g.11577T>C commonName T>C TP53_g.11577T>C protEffect p.Ser116Pro TP53_g.12367T>A commonName T>A TP53_g.12367T>A protEffect p.Ser127Thr TP53_g.12649C>A commonName C>A TP53_g.12649C>A protEffect p.Leu194Ile TP53_g.16916G>A commonName G>A TP53_g.16916G>A protEffect p.Arg342Gln TP53_g.12364_12554del commonName del191 TP53_g.11589_11637del commonName del49 TP53_g.13764G>T commonName G>T TP53_g.13764G>T protEffect p.Gly262Cys TP53_g.11576T>C commonName T>C TP53_g.11576T>C protEffect p.His115His TP53_g.13346A>T commonName A>T TP53_g.13346A>T protEffect p.Met237Leu TP53_g.11586G>A commonName G>A TP53_g.11586G>A protEffect p.Ala119Thr TP53_g.17940C>A commonName C>A TP53_g.17940C>A protEffect p.Thr377Thr TP53_g.12385_12545del commonName del161 TP53_g.16901G>T commonName G>T TP53_g.16901G>T protEffect p.Arg337Leu TP53_g.12696A>G commonName A>G TP53_g.12696A>G protEffect p.Arg209Arg TP53_g.11556T>C commonName T>C TP53_g.11556T>C protEffect p.Phe109Leu TP53_g.12630T>C commonName T>C TP53_g.12630T>C protEffect p.Gly187Gly TP53_g.12510G>A commonName G>A TP53_g.12510G>A protEffect p.Arg174Arg TP53_g.13346_13348del commonName del3 TP53_g.12430del commonName del1 TP53_g.12634del commonName del1 TP53_g.13798_13799delinsAG commonName GT>AG TP53_g.13798_13799delinsAG protEffect p.Arg273Gln TP53_g.11219G>T commonName G>T TP53_g.12661del commonName del1 TP53_g.11589_11605del commonName del17 TP53_g.12453_12454ins1 commonName ins1 TP53_g.12436_12437del commonName del2 TP53_g.13316T>A commonName T>A TP53_g.13316T>A protEffect p.Ser227Thr TP53_g.13403_13406del commonName del4 TP53_g.13387C>G commonName C>G TP53_g.13387C>G protEffect p.Pro250Pro TP53_g.13788del commonName del1 TP53_g.13996_13997ins1 commonName ins1 TP53_g.13829C>A commonName C>A TP53_g.13829C>A protEffect p.Arg283Arg TP53_g.13852A>C commonName A>C TP53_g.13852A>C protEffect p.Lys291Thr TP53_g.14014C>T commonName C>T TP53_g.14014C>T protEffect p.Ser314Ser TP53_g.13384del commonName del1 TP53_g.13377A>G commonName A>G TP53_g.13377A>G protEffect p.Asn247Ser TP53_g.12412C>G commonName C>G TP53_g.12412C>G protEffect p.Pro142Ala TP53_g.13827_13853del commonName del27 TP53_g.12478_12487del commonName del10 TP53_g.12538del commonName del1 TP53_g.13796G>A commonName G>A TP53_g.13796G>A protEffect p.Val272Val TP53_g.13853G>C commonName G>C TP53_g.13853G>C protEffect p.Lys291Asn TP53_g.12428_12429delinsAA commonName TT>AA TP53_g.12428_12429delinsAA protEffect p.Val147Glu TP53_g.13833_13834del commonName del2 TP53_g.13859_13860ins1 commonName ins1 TP53_g.12473T>C commonName T>C TP53_g.12473T>C protEffect p.Ile162Thr TP53_g.13823C>T commonName C>T TP53_g.13823C>T protEffect p.Asp281Asp TP53_g.13802_13803ins1 commonName ins1 TP53_g.12655del commonName del1 TP53_g.13829C>G commonName C>G TP53_g.13829C>G protEffect p.Arg283Arg TP53_g.16975del commonName del1 TP53_g.11473C>T commonName C>T TP53_g.11473C>T protEffect p.Thr81Ile TP53_g.11532A>T commonName A>T TP53_g.11532A>T protEffect p.Lys101STOP TP53_g.13357T>A commonName T>A TP53_g.13357T>A protEffect p.Ser240Arg TP53_g.12736C>G commonName C>G TP53_g.12736C>G protEffect p.Pro223Ala TP53_g.12500A>C commonName A>C TP53_g.12500A>C protEffect p.Glu171Ala TP53_g.14054T>G commonName T>G TP53_g.14054T>G protEffect p.Phe328Val TP53_g.13393C>A commonName C>A TP53_g.13393C>A protEffect p.Leu252Leu TP53_g.13831C>A commonName C>A TP53_g.13831C>A protEffect p.Thr284Lys TP53_g.13376_13377del commonName del2 TP53_g.12690_12691ins1 commonName ins1 TP53_g.12507G>T commonName G>T TP53_g.12507G>T protEffect p.Val173Val TP53_g.12472del commonName del1 TP53_g.13857_13891del commonName del35 TP53_g.13803_13829del commonName del27 TP53_g.13346_13350del commonName del5 TP53_g.12469G>C commonName G>C TP53_g.12469G>C protEffect p.Ala161Pro TP53_g.12403A>G commonName A>G TP53_g.12403A>G protEffect p.Lys139Glu TP53_g.12669T>A commonName T>A TP53_g.12669T>A protEffect p.Asn200Lys TP53_g.13762G>A commonName G>A TP53_g.12631C>G commonName C>G TP53_g.12631C>G protEffect p.Leu188Val TP53_g.12674_12675ins2 commonName ins2 TP53_g.12477C>T commonName C>T TP53_g.12477C>T protEffect p.Tyr163Tyr TP53_g.13373A>C commonName A>C TP53_g.13373A>C protEffect p.Met246Leu TP53_g.12397C>A commonName C>A TP53_g.12397C>A protEffect p.Leu137Met TP53_g.13389T>C commonName T>C TP53_g.13389T>C protEffect p.Ile251Thr TP53_g.13799T>C commonName T>C TP53_g.13799T>C protEffect p.Arg273Arg TP53_g.13804G>C commonName G>C TP53_g.13804G>C protEffect p.Cys275Ser TP53_g.13352_13358del commonName del7 TP53_g.14011C>T commonName C>T TP53_g.14011C>T protEffect p.Ser313Ser TP53_g.11603C>G commonName C>G TP53_g.11603C>G protEffect p.Cys124Trp TP53_g.12786_12788delinsAGTTA commonName GTT>AGTTA TP53_g.13311T>G commonName T>G TP53_g.13311T>G protEffect p.Val225Gly TP53_g.13397A>G commonName A>G TP53_g.13397A>G protEffect p.Ile254Val TP53_g.13799T>G commonName T>G TP53_g.13799T>G protEffect p.Arg273Arg TP53_g.13805_13806ins8 commonName ins8 TP53_g.13309G>A commonName G>A TP53_g.13900G>A commonName G>A TP53_g.13784_13785ins1 commonName ins1 TP53_g.12438A>G commonName A>G TP53_g.12438A>G protEffect p.Thr150Thr TP53_g.12642T>C commonName T>C TP53_g.12642T>C protEffect p.Pro191Pro TP53_g.13868C>T commonName C>T TP53_g.13868C>T protEffect p.His296His TP53_g.13832A>C commonName A>C TP53_g.13832A>C protEffect p.Thr284Thr TP53_g.13337_13339delinsCAG commonName TAC>CAG TP53_g.13337_13339delinsCAG protEffect Y234Q TP53_g.12678_12679ins2 commonName ins2 TP53_g.12387_12388ins1 commonName ins1 TP53_g.13346_13354del commonName del9 TP53_g.13829_13830ins8 commonName ins8 TP53_g.12510_12511ins3 commonName ins3 TP53_g.30007del commonName del1 TP53_g.11479C>A commonName C>A TP53_g.11479C>A protEffect p.Ala83Glu TP53_g.13823_13824delinsGT commonName CC>GT TP53_g.13823_13824delinsGT protEffect D281E;R282W] TP53_g.14044T>C commonName T>C TP53_g.14044T>C protEffect p.Asp324Asp TP53_g.12460C>A commonName C>A TP53_g.12460C>A protEffect p.Arg158Ser TP53_g.11510G>A commonName G>A TP53_g.11510G>A protEffect p.Leu93Leu TP53_g.12356_12366del commonName del11 TP53_g.12459_12460ins1 commonName ins1 TP53_g.16958G>C commonName G>C TP53_g.16958G>C protEffect p.Gly356Ala TP53_g.12652_12666del commonName del15 TP53_g.13379_13387del commonName del9 TP53_g.13351_13352ins3 commonName ins3 TP53_g.13961_14009del commonName del49 TP53_g.11382_11421del commonName del40 TP53_g.13349_13360del commonName del12 TP53_g.13369_13370ins11 commonName ins11 TP53_g.13318_13319ins13 commonName ins13 TP53_g.12557_12571del commonName del15 TP53_g.13397A>T commonName A>T TP53_g.13397A>T protEffect p.Ile254Phe TP53_g.12513_12514ins2 commonName ins2 TP53_g.11580G>A commonName G>A TP53_g.11580G>A protEffect p.Gly117Arg TP53_g.13322del commonName del1 TP53_g.13346del commonName del1 TP53_g.13766_13767ins1 commonName ins1 TP53_g.13844_13845ins1 commonName ins1 TP53_g.13802_13803ins3 commonName ins3 TP53_g.13775_13776ins1 commonName ins1 TP53_g.14015del commonName del1 TP53_g.14007C>T commonName C>T TP53_g.14007C>T protEffect p.Thr312Ile TP53_g.12717_12718ins1 commonName ins1 TP53_g.11474_11475ins5 commonName ins5 TP53_g.13785A>T commonName A>T TP53_g.13785A>T protEffect p.Ser269Cys TP53_g.12373G>A commonName G>A TP53_g.12373G>A protEffect p.Ala129Thr TP53_g.13769del commonName del1 TP53_g.12510del commonName del1 TP53_g.12712del commonName del1 TP53_g.12654del commonName del1 TP53_g.12711T>A commonName T>A TP53_g.12711T>A protEffect p.His214Gln TP53_g.12480G>A commonName G>A TP53_g.12480G>A protEffect p.Lys164Lys TP53_g.12432T>G commonName T>G TP53_g.12432T>G protEffect p.Asp148Glu TP53_g.13402C>G commonName C>G TP53_g.13402C>G protEffect p.Ile255Met TP53_g.11400_11459del commonName del60 TP53_g.13349_13351del commonName del3 TP53_g.16931C>G commonName C>G TP53_g.16931C>G protEffect p.Ala347Gly TP53_g.11563T>G commonName T>G TP53_g.11563T>G protEffect p.Leu111Arg TP53_g.13350_13352del commonName del3 TP53_g.13400A>G commonName A>G TP53_g.13400A>G protEffect p.Ile255Val TP53_g.12649C>G commonName C>G TP53_g.12649C>G protEffect p.Leu194Val TP53_g.16915_16921del commonName del7 TP53_g.12676G>C commonName G>C TP53_g.12676G>C protEffect p.Val203Leu TP53_g.13358_13389del commonName del32 TP53_g.13387_13388ins1 commonName ins1 TP53_g.12652A>G commonName A>G TP53_g.12652A>G protEffect p.Ile195Val TP53_g.13820A>C commonName A>C TP53_g.13820A>C protEffect p.Arg280Ser TP53_g.13363_13364ins1 commonName ins1 TP53_g.13806del commonName del1 TP53_g.12483_12484ins1 commonName ins1 TP53_g.12454_12465del commonName del12 TP53_g.13815_13820del commonName del6 TP53_g.13363_13364ins3 commonName ins3 TP53_g.13867A>T commonName A>T TP53_g.13867A>T protEffect p.His296Leu TP53_g.12459C>T commonName C>T TP53_g.12459C>T protEffect p.Val157Val TP53_g.11445_11450del commonName del6 TP53_g.12692_12693delinsTT commonName AC>TT TP53_g.12692_12693delinsTT protEffect p.Asp208Val TP53_g.13417_13422del commonName del6 TP53_g.12495G>T commonName G>T TP53_g.12495G>T protEffect p.Met169Ile TP53_g.12538G>A commonName G>A TP53_g.12538G>A protEffect p.Asp184Asn TP53_g.13777G>C commonName G>C TP53_g.13777G>C protEffect p.Gly266Ala TP53_g.13881_13882del commonName del2 TP53_g.13878_13966del commonName del89 TP53_g.13803_13817del commonName del15 TP53_g.13890del commonName del1 TP53_g.12462_12463ins1 commonName ins1 TP53_g.11588C>G commonName C>G TP53_g.11588C>G protEffect p.Ala119Ala TP53_g.16922T>G commonName T>G TP53_g.16922T>G protEffect p.Leu344Arg TP53_g.12629G>A commonName G>A TP53_g.12629G>A protEffect p.Gly187Asp TP53_g.11541C>T commonName C>T TP53_g.11541C>T protEffect p.Gln104STOP TP53_g.13836del commonName del1 TP53_g.13872G>A commonName G>A TP53_g.13872G>A protEffect p.Glu298Lys TP53_g.13365T>G commonName T>G TP53_g.13365T>G protEffect p.Met243Arg TP53_g.13390C>A commonName C>A TP53_g.13390C>A protEffect p.Ile251Ile TP53_g.13369C>A commonName C>A TP53_g.13369C>A protEffect p.Gly244Gly TP53_g.13365T>A commonName T>A TP53_g.13365T>A protEffect p.Met243Lys TP53_g.13363C>A commonName C>A TP53_g.13363C>A protEffect p.Cys242STOP TP53_g.12709C>G commonName C>G TP53_g.12709C>G protEffect p.His214Asp TP53_g.12766G>C commonName G>C TP53_g.13771T>A commonName T>A TP53_g.13771T>A protEffect p.Leu264Gln TP53_g.12692A>G commonName A>G TP53_g.12692A>G protEffect p.Asp208Gly TP53_g.12706_12712del commonName del7 TP53_g.12368del commonName del1 TP53_g.12375_12382del commonName del8 TP53_g.12669del commonName del1 TP53_g.12694_12713del commonName del20 TP53_g.12714_12715ins5 commonName ins5 TP53_g.13355_13356del commonName del2 TP53_g.13360del commonName del1 TP53_g.13804_13805del commonName del2 TP53_g.12426_12427ins21 commonName ins21 TP53_g.13763T>G commonName T>G TP53_g.13763T>G protEffect p.Ser261Arg TP53_g.13357T>G commonName T>G TP53_g.13357T>G protEffect p.Ser240Arg TP53_g.13842_13843del commonName del2 TP53_g.14012del commonName del1 TP53_g.13883A>G commonName A>G TP53_g.13883A>G protEffect p.Pro301Pro TP53_g.13406_13413del commonName del8 TP53_g.11567C>G commonName C>G TP53_g.11567C>G protEffect p.Gly112Gly TP53_g.12477C>A commonName C>A TP53_g.12477C>A protEffect p.Tyr163STOP TP53_g.13331_13351del commonName del21 TP53_g.13346_13351del commonName del6 TP53_g.12727T>G commonName T>G TP53_g.12727T>G protEffect p.Tyr220Asp TP53_g.13791_13802del commonName del12 TP53_g.12641C>T commonName C>T TP53_g.12641C>T protEffect p.Pro191Leu TP53_g.11437C>A commonName C>A TP53_g.11437C>A protEffect p.Ala69Asp TP53_g.11567C>A commonName C>A TP53_g.11567C>A protEffect p.Gly112Gly TP53_g.12505_12506ins18 commonName ins18 TP53_g.12743T>G commonName T>G TP53_g.13923G>A commonName G>A TP53_g.13892_13893ins1 commonName ins1 TP53_g.12409_12416del commonName del8 TP53_g.12711T>C commonName T>C TP53_g.12711T>C protEffect p.His214His TP53_g.12719_12732del commonName del14 TP53_g.13855A>T commonName A>T TP53_g.13855A>T protEffect p.Lys292Ile TP53_g.13894_13895delinsCT commonName AG>CT TP53_g.13894_13895delinsCT protEffect p.Lys305Thr TP53_g.13786del commonName del1 TP53_g.12498_12499ins1 commonName ins1 TP53_g.30003_30026del commonName del24 TP53_g.13851A>G commonName A>G TP53_g.13851A>G protEffect p.Lys291Glu TP53_g.13869C>A commonName C>A TP53_g.13869C>A protEffect p.His297Asn TP53_g.13156G>T commonName G>T TP53_g.13443C>A commonName C>A TP53_g.13402C>T commonName C>T TP53_g.13402C>T protEffect p.Ile255Ile TP53_g.12722T>C commonName T>C TP53_g.12722T>C protEffect p.Val218Ala TP53_g.13773_13781del commonName del9 TP53_g.12706_12707del commonName del2 TP53_g.12366C>A commonName C>A TP53_g.12366C>A protEffect p.Tyr126STOP TP53_g.11370_11506del commonName del137 TP53_g.12484T>C commonName T>C TP53_g.12484T>C protEffect p.Ser166Pro TP53_g.11590A>G commonName A>G TP53_g.11590A>G protEffect p.Lys120Arg TP53_g.12430_12431del commonName del2 TP53_g.13391_13393del commonName del3 TP53_g.12373_12375del commonName del3 TP53_g.12713G>C commonName G>C TP53_g.12713G>C protEffect p.Ser215Thr TP53_g.12447C>A commonName C>A TP53_g.12447C>A protEffect p.Pro153Pro TP53_g.13325A>G commonName A>G TP53_g.13325A>G protEffect p.Thr230Ala TP53_g.13345_13346ins3 commonName ins3 TP53_g.12661_12669del commonName del9 TP53_g.12539A>G commonName A>G TP53_g.12539A>G protEffect p.Asp184Gly TP53_g.13385_13394del commonName del10 TP53_g.12456_12457ins4 commonName ins4 TP53_g.11514T>A commonName T>A TP53_g.11514T>A protEffect p.Ser95Thr TP53_g.14012_14016del commonName del5 TP53_g.12451_12462del commonName del12 TP53_g.13898A>G commonName A>G TP53_g.13898A>G protEffect p.Arg306Arg TP53_g.11364C>A commonName C>A TP53_g.11364C>A protEffect p.Leu45Met TP53_g.11529del commonName del1 TP53_g.13994del commonName del1 TP53_g.13860_13882del commonName del23 TP53_g.13785_13831del commonName del47 TP53_g.12472_12478del commonName del7 TP53_g.13858G>T commonName G>T TP53_g.13858G>T protEffect p.Gly293Val TP53_g.14027_14077del commonName del51 TP53_g.11568_11571del commonName del4 TP53_g.12450C>G commonName C>G TP53_g.12450C>G protEffect p.Gly154Gly TP53_g.12743T>C commonName T>C TP53_g.12419A>G commonName A>G TP53_g.12419A>G protEffect p.Gln144Arg TP53_g.12644A>T commonName A>T TP53_g.12644A>T protEffect p.Gln192Leu TP53_g.12673C>A commonName C>A TP53_g.12673C>A protEffect p.Arg202Ser TP53_g.12651T>G commonName T>G TP53_g.12651T>G protEffect p.Leu194Leu TP53_g.13799_13800ins1 commonName ins1 TP53_g.13881C>T commonName C>T TP53_g.13881C>T protEffect p.Pro301Ser TP53_g.11607G>A commonName G>A TP53_g.13808C>A commonName C>A TP53_g.13808C>A protEffect p.Ala276Ala TP53_g.13394A>C commonName A>C TP53_g.13394A>C protEffect p.Thr253Pro TP53_g.12526G>A commonName G>A TP53_g.12526G>A protEffect p.Glu180Lys TP53_g.12651del commonName del1 TP53_g.12376del commonName del1 TP53_g.12420_12431del commonName del12 TP53_g.12502_12547del commonName del46 TP53_g.13384_13385ins1 commonName ins1 TP53_g.12523_12525delinsTAG commonName CAT>TAG TP53_g.12523_12525delinsTAG protEffect H179X TP53_g.13837A>C commonName A>C TP53_g.13837A>C protEffect p.Glu286Ala TP53_g.13840A>T commonName A>T TP53_g.13840A>T protEffect p.Glu287Val TP53_g.12656del commonName del1 TP53_g.12685_12689del commonName del5 TP53_g.12359_12363del commonName del5 TP53_g.13378_13379delinsAT commonName CC>AT TP53_g.13378_13379delinsAT protEffect N247K;R248W] TP53_g.12409_12410ins1 commonName ins1 TP53_g.12489G>A commonName G>A TP53_g.12489G>A protEffect p.Gln167Gln TP53_g.12361C>T commonName C>T TP53_g.13311T>A commonName T>A TP53_g.13311T>A protEffect p.Val225Asp TP53_g.12450C>A commonName C>A TP53_g.12450C>A protEffect p.Gly154Gly TP53_g.12536C>T commonName C>T TP53_g.12536C>T protEffect p.Ser183Leu TP53_g.12456C>G commonName C>G TP53_g.12456C>G protEffect p.Arg156Arg TP53_g.12414T>C commonName T>C TP53_g.12414T>C protEffect p.Pro142Pro TP53_g.12717_12718ins8 commonName ins8 TP53_g.13803del commonName del1 TP53_g.12452C>G commonName C>G TP53_g.12452C>G protEffect p.Thr155Ser TP53_g.12397_12426del commonName del30 TP53_g.12517_12528del commonName del12 TP53_g.12469_12472del commonName del4 TP53_g.13791_13792delinsCG commonName GA>CG TP53_g.13791_13792delinsCG protEffect p.Glu271Arg TP53_g.14008_14009ins1 commonName ins1 TP53_g.14053T>G commonName T>G TP53_g.14053T>G protEffect p.Tyr327STOP TP53_g.12680A>C commonName A>C TP53_g.12680A>C protEffect p.Glu204Ala TP53_g.13353A>T commonName A>T TP53_g.13353A>T protEffect p.Asn239Ile TP53_g.12531C>T commonName C>T TP53_g.12531C>T protEffect p.Arg181Arg TP53_g.12369C>T commonName C>T TP53_g.12369C>T protEffect p.Ser127Ser TP53_g.12646C>A commonName C>A TP53_g.12646C>A protEffect p.His193Asn TP53_g.13329C>T commonName C>T TP53_g.13329C>T protEffect p.Thr231Ile TP53_g.12399_12400ins1 commonName ins1 TP53_g.12492C>A commonName C>A TP53_g.12492C>A protEffect p.His168Gln TP53_g.12630_12631ins1 commonName ins1 TP53_g.13373_13387del commonName del15 TP53_g.12403_12407del commonName del5 TP53_g.13337_13344del commonName del8 TP53_g.13362_13363delinsTT commonName GC>TT TP53_g.13362_13363delinsTT protEffect p.Cys242Phe TP53_g.13921C>T commonName C>T TP53_g.12466del commonName del1 TP53_g.12436_12454del commonName del19 TP53_g.12720_12721ins5 commonName ins5 TP53_g.13369C>G commonName C>G TP53_g.13369C>G protEffect p.Gly244Gly TP53_g.12527A>G commonName A>G TP53_g.12527A>G protEffect p.Glu180Gly TP53_g.12703T>C commonName T>C TP53_g.12703T>C protEffect p.Phe212Leu TP53_g.13797del commonName del1 TP53_g.12408C>A commonName C>A TP53_g.12408C>A protEffect p.Thr140Thr TP53_g.13802T>G commonName T>G TP53_g.13802T>G protEffect p.Val274Val TP53_g.12509G>C commonName G>C TP53_g.12509G>C protEffect p.Arg174Thr TP53_g.13784C>T commonName C>T TP53_g.13784C>T protEffect p.Asn268Asn TP53_g.13360C>T commonName C>T TP53_g.13360C>T protEffect p.Ser241Ser TP53_g.13397A>C commonName A>C TP53_g.13397A>C protEffect p.Ile254Leu TP53_g.13853G>A commonName G>A TP53_g.13853G>A protEffect p.Lys291Lys TP53_g.12405_12406ins1 commonName ins1 TP53_g.12513C>A commonName C>A TP53_g.12513C>A protEffect p.Arg175Arg TP53_g.13388A>G commonName A>G TP53_g.13388A>G protEffect p.Ile251Val TP53_g.11338C>T commonName C>T TP53_g.11338C>T protEffect p.Pro36Leu TP53_g.11205A>C commonName A>C TP53_g.11205A>C protEffect p.Glu28Ala TP53_g.14020_14021ins1 commonName ins1 TP53_g.11589_11788del commonName del200 TP53_g.11553_11563del commonName del11 TP53_g.13353_13354delinsGT commonName AC>GT TP53_g.13353_13354delinsGT protEffect p.Asn239Ser TP53_g.12643C>A commonName C>A TP53_g.12643C>A protEffect p.Gln192Lys TP53_g.12645G>C commonName G>C TP53_g.12645G>C protEffect p.Gln192His TP53_g.12408_12409ins1 commonName ins1 TP53_g.16905_16906ins16 commonName ins16 TP53_g.13990A>G commonName A>G TP53_g.16924del commonName del1 TP53_g.13761_13762ins3 commonName ins3 TP53_g.12412_12413delinsTT commonName CC>TT TP53_g.12412_12413delinsTT protEffect p.Pro142Phe TP53_g.12368_12369delinsTT commonName CC>TT TP53_g.12368_12369delinsTT protEffect p.Ser127Phe TP53_g.12733_12734delinsTT commonName CC>TT TP53_g.12733_12734delinsTT protEffect p.Pro222Leu TP53_g.13359_13360delinsTT commonName CC>TT TP53_g.13359_13360delinsTT protEffect p.Ser241Phe TP53_g.12401_12402delinsTT commonName CC>TT TP53_g.12401_12402delinsTT protEffect p.Ala138Val TP53_g.12725_12726delinsTT commonName CC>TT TP53_g.12725_12726delinsTT protEffect p.Pro219Leu TP53_g.13851_13869del commonName del19 TP53_g.12721_12730del commonName del10 TP53_g.13815_13818del commonName del4 TP53_g.11526_11527del commonName del2 TP53_g.30000_30001ins16 commonName ins16 TP53_g.13845del commonName del1 TP53_g.12678G>A commonName G>A TP53_g.12678G>A protEffect p.Val203Val TP53_g.13310_13311del commonName del2 TP53_g.13334C>T commonName C>T TP53_g.13334C>T protEffect p.His233Tyr TP53_g.12397C>T commonName C>T TP53_g.12397C>T protEffect p.Leu137Leu TP53_g.12544G>A commonName G>A TP53_g.12544G>A protEffect p.Asp186Asn TP53_g.11467C>G commonName C>G TP53_g.11467C>G protEffect p.Ala79Gly TP53_g.12382del commonName del1 TP53_g.12411del commonName del1 TP53_g.13768_13769ins1 commonName ins1 TP53_g.12538G>C commonName G>C TP53_g.12538G>C protEffect p.Asp184His TP53_g.12406_12407ins1 commonName ins1 TP53_g.12520_12521ins1 commonName ins1 TP53_g.12491_12492ins1 commonName ins1 TP53_g.12404del commonName del1 TP53_g.12729_12730ins1 commonName ins1 TP53_g.13343_13345del commonName del3 TP53_g.12397del commonName del1 TP53_g.12429_12430ins2 commonName ins2 TP53_g.12456_12457ins1 commonName ins1 TP53_g.12459_12460ins4 commonName ins4 TP53_g.12595_12616del commonName del22 TP53_g.12639_12640ins2 commonName ins2 TP53_g.13281_13304del commonName del24 TP53_g.13352_13357del commonName del6 TP53_g.13364_13371del commonName del8 TP53_g.13841G>T commonName G>T TP53_g.13841G>T protEffect p.Glu287Asp TP53_g.11424_11444del commonName del21 TP53_g.12700_12714del commonName del15 TP53_g.12727_12733del commonName del7 TP53_g.13322T>G commonName T>G TP53_g.13322T>G protEffect p.Cys229Gly TP53_g.13394_13396del commonName del3 TP53_g.13884_13888del commonName del5 TP53_g.11501_11502ins1 commonName ins1 TP53_g.13342_13343ins2 commonName ins2 TP53_g.14003A>C commonName A>C TP53_g.14003A>C protEffect p.Asn311His TP53_g.16891del commonName del1 TP53_g.12702T>C commonName T>C TP53_g.12702T>C protEffect p.Thr211Thr TP53_g.12658G>T commonName G>T TP53_g.12658G>T protEffect p.Val197Leu TP53_g.12725C>A commonName C>A TP53_g.12725C>A protEffect p.Pro219His TP53_g.12476A>C commonName A>C TP53_g.12476A>C protEffect p.Tyr163Ser TP53_g.12421_12423del commonName del3 TP53_g.12733_12736del commonName del4 TP53_g.12381_12383del commonName del3 TP53_g.12430_12458del commonName del29 TP53_g.12400_12403del commonName del4 TP53_g.12498_12499ins6 commonName ins6 TP53_g.13845C>T commonName C>T TP53_g.13845C>T protEffect p.Leu289Phe TP53_g.13333_13334ins1 commonName ins1 TP53_g.12550G>C commonName G>C TP53_g.17926del commonName del1 TP53_g.12688_12708del commonName del21 TP53_g.13418_13441del commonName del24 TP53_g.11563T>A commonName T>A TP53_g.11563T>A protEffect p.Leu111Gln TP53_g.13379_13381delinsTGC commonName CGG>TGC TP53_g.13379_13381delinsTGC protEffect R248C TP53_g.12571C>T commonName C>T TP53_g.12528G>C commonName G>C TP53_g.12528G>C protEffect p.Glu180Asp TP53_g.12511_12528del commonName del18 TP53_g.13848_13858del commonName del11 TP53_g.13826_13827ins2 commonName ins2 TP53_g.13791_13793del commonName del3 TP53_g.12638C>G commonName C>G TP53_g.12638C>G protEffect p.Pro190Arg TP53_g.11470C>T commonName C>T TP53_g.11470C>T protEffect p.Pro80Leu TP53_g.11485C>T commonName C>T TP53_g.11485C>T protEffect p.Pro85Leu TP53_g.11544del commonName del1 TP53_g.12414T>A commonName T>A TP53_g.12414T>A protEffect p.Pro142Pro TP53_g.13379C>A commonName C>A TP53_g.13379C>A protEffect p.Arg248Arg TP53_g.12730_12734del commonName del5 TP53_g.12545A>G commonName A>G TP53_g.12545A>G protEffect p.Asp186Gly TP53_g.11449del commonName del1 TP53_g.12637C>T commonName C>T TP53_g.12637C>T protEffect p.Pro190Ser TP53_g.13854A>T commonName A>T TP53_g.13854A>T protEffect p.Lys292STOP TP53_g.13794_13856del commonName del63 TP53_g.14020_14021delinsTT commonName CC>TT TP53_g.14020_14021delinsTT protEffect Q317X TP53_g.30004_30022del commonName del19 TP53_g.14059C>A commonName C>A TP53_g.14059C>A protEffect p.Thr329Thr TP53_g.12454_12457del commonName del4 TP53_g.12706_12709del commonName del4 TP53_g.13388_13399del commonName del12 TP53_g.13419del commonName del1 TP53_g.12542G>T commonName G>T TP53_g.12542G>T protEffect p.Ser185Ile TP53_g.12529C>A commonName C>A TP53_g.12529C>A protEffect p.Arg181Ser TP53_g.12645G>T commonName G>T TP53_g.12645G>T protEffect p.Gln192His TP53_g.12394del commonName del1 TP53_g.13337_13338del commonName del2 TP53_g.12714T>A commonName T>A TP53_g.12714T>A protEffect p.Ser215Arg TP53_g.12685T>A commonName T>A TP53_g.12685T>A protEffect p.Leu206Met TP53_g.13415T>A commonName T>A TP53_g.13415T>A protEffect p.Ser260Thr TP53_g.13778A>T commonName A>T TP53_g.13778A>T protEffect p.Gly266Gly TP53_g.13312T>C commonName T>C TP53_g.13312T>C protEffect p.Val225Val TP53_g.12421C>A commonName C>A TP53_g.12421C>A protEffect p.Leu145Met TP53_g.12679_12691del commonName del13 TP53_g.12701_12702del commonName del2 TP53_g.12435_12436ins1 commonName ins1 TP53_g.13777del commonName del1 TP53_g.30017_30022del commonName del6 TP53_g.12502G>A commonName G>A TP53_g.12502G>A protEffect p.Val172Ile TP53_g.12690_12691delinsGT commonName TG>GT TP53_g.12690_12691delinsGT protEffect D207E;D208Y] TP53_g.13347T>C commonName T>C TP53_g.13347T>C protEffect p.Met237Thr TP53_g.12639T>A commonName T>A TP53_g.12639T>A protEffect p.Pro190Pro TP53_g.13877G>T commonName G>T TP53_g.13877G>T protEffect p.Leu299Leu TP53_g.12734C>G commonName C>G TP53_g.12734C>G protEffect p.Pro222Arg TP53_g.13809T>C commonName T>C TP53_g.13809T>C protEffect p.Cys277Arg TP53_g.13411A>C commonName A>C TP53_g.13411A>C protEffect p.Glu258Asp TP53_g.13382_13388del commonName del7 TP53_g.13313del commonName del1 TP53_g.11495_11496ins1 commonName ins1 TP53_g.12649del commonName del1 TP53_g.13344A>T commonName A>T TP53_g.13344A>T protEffect p.Tyr236Phe TP53_g.13385_13396del commonName del12 TP53_g.12668A>G commonName A>G TP53_g.12668A>G protEffect p.Asn200Ser TP53_g.12514_12516del commonName del3 TP53_g.12736C>T commonName C>T TP53_g.12736C>T protEffect p.Pro223Ser TP53_g.12519C>G commonName C>G TP53_g.12519C>G protEffect p.Pro177Pro TP53_g.12364_12381del commonName del18 TP53_g.12429_12430ins1 commonName ins1 TP53_g.11569T>C commonName T>C TP53_g.11569T>C protEffect p.Phe113Ser TP53_g.30019_30020ins6 commonName ins6 TP53_g.12405_12410del commonName del6 TP53_g.12364_12365delinsGG commonName TA>GG TP53_g.12364_12365delinsGG protEffect p.Tyr126Gly TP53_g.13416C>A commonName C>A TP53_g.13416C>A protEffect p.Ser260Tyr TP53_g.11597_11598ins1 commonName ins1 TP53_g.13999C>T commonName C>T TP53_g.13999C>T protEffect p.Pro309Pro TP53_g.14016C>T commonName C>T TP53_g.14016C>T protEffect p.Ser315Phe TP53_g.12718_12723del commonName del6 TP53_g.13412_13414delinsCCG commonName GAC>CCG TP53_g.13412_13414delinsCCG protEffect D259P TP53_g.13322T>C commonName T>C TP53_g.13322T>C protEffect p.Cys229Arg TP53_g.13311T>C commonName T>C TP53_g.13311T>C protEffect p.Val225Ala TP53_g.11565_11579del commonName del15 TP53_g.11455C>G commonName C>G TP53_g.11455C>G protEffect p.Pro75Arg TP53_g.12629G>T commonName G>T TP53_g.12629G>T protEffect p.Gly187Val TP53_g.13855A>C commonName A>C TP53_g.13855A>C protEffect p.Lys292Thr TP53_g.11544G>C commonName G>C TP53_g.11544G>C protEffect p.Gly105Arg TP53_g.11540C>A commonName C>A TP53_g.11540C>A protEffect p.Tyr103STOP TP53_g.12711_12712ins5 commonName ins5 TP53_g.12621_12626del commonName del6 TP53_g.12522_12523ins1 commonName ins1 TP53_g.12370_12374del commonName del5 TP53_g.13397_13399del commonName del3 TP53_g.13839_13840del commonName del2 TP53_g.13820_13821ins8 commonName ins8 TP53_g.13357T>C commonName T>C TP53_g.13357T>C protEffect p.Ser240Ser TP53_g.13776del commonName del1 TP53_g.12636_12637ins1 commonName ins1 TP53_g.12671T>A commonName T>A TP53_g.12671T>A protEffect p.Leu201STOP TP53_g.12365A>C commonName A>C TP53_g.12365A>C protEffect p.Tyr126Ser TP53_g.11601T>A commonName T>A TP53_g.11601T>A protEffect p.Cys124Ser TP53_g.13378_13379delinsGT commonName CC>GT TP53_g.13378_13379delinsGT protEffect N247K;R248W] TP53_g.12363_12364ins1 commonName ins1 TP53_g.12515_12517delinsTTT commonName GCC>TTT TP53_g.12515_12517delinsTTT protEffect C176F;P177S] TP53_g.11370_11371delinsTT commonName CC>TT TP53_g.11370_11371delinsTT protEffect p.Pro47Leu TP53_g.12440_12441delinsTT commonName CC>TT TP53_g.12440_12441delinsTT protEffect p.Pro151Leu TP53_g.12517_12518delinsTT commonName CC>TT TP53_g.12517_12518delinsTT protEffect p.Pro177Phe TP53_g.12474_12475delinsTC commonName CT>TC TP53_g.12474_12475delinsTC protEffect Y163H TP53_g.11494_11495delinsTT commonName CC>TT TP53_g.11494_11495delinsTT protEffect p.Ala88Val TP53_g.11442C>A commonName C>A TP53_g.11442C>A protEffect p.Pro71Thr TP53_g.13402_13403ins2 commonName ins2 TP53_g.12724_12725del commonName del2 TP53_g.12402C>G commonName C>G TP53_g.12402C>G protEffect p.Ala138Ala TP53_g.12406_12408delinsGCG commonName ACC>GCG TP53_g.12406_12408delinsGCG protEffect T140A TP53_g.12526G>C commonName G>C TP53_g.12526G>C protEffect p.Glu180Gln TP53_g.12451A>T commonName A>T TP53_g.12451A>T protEffect p.Thr155Ser TP53_g.12438A>C commonName A>C TP53_g.12438A>C protEffect p.Thr150Thr TP53_g.12495G>C commonName G>C TP53_g.12495G>C protEffect p.Met169Ile TP53_g.12642T>A commonName T>A TP53_g.12642T>A protEffect p.Pro191Pro TP53_g.13888G>T commonName G>T TP53_g.13888G>T protEffect p.Ser303Ile TP53_g.13835G>C commonName G>C TP53_g.13835G>C protEffect p.Glu285Asp TP53_g.12446C>T commonName C>T TP53_g.12446C>T protEffect p.Pro153Leu TP53_g.13416C>G commonName C>G TP53_g.13416C>G protEffect p.Ser260Cys TP53_g.12421C>T commonName C>T TP53_g.12421C>T protEffect p.Leu145Leu TP53_g.13824del commonName del1 TP53_g.13863del commonName del1 TP53_g.13814T>C commonName T>C TP53_g.13814T>C protEffect p.Pro278Pro TP53_g.12529C>G commonName C>G TP53_g.12529C>G protEffect p.Arg181Gly TP53_g.12514_12525del commonName del12 TP53_g.12715_12720del commonName del6 TP53_g.12433_12465del commonName del33 TP53_g.13400_13405del commonName del6 TP53_g.12363del commonName del1 TP53_g.11509T>C commonName T>C TP53_g.11509T>C protEffect p.Leu93Pro TP53_g.11479C>T commonName C>T TP53_g.11479C>T protEffect p.Ala83Val TP53_g.11355G>T commonName G>T TP53_g.11355G>T protEffect p.Asp42Tyr TP53_g.11448G>T commonName G>T TP53_g.11448G>T protEffect p.Val73Leu TP53_g.12383A>C commonName A>C TP53_g.12383A>C protEffect p.Lys132Thr TP53_g.12646_12654delinsGCCCCT commonName CATCTTATC>GCCCCT TP53_g.13318T>A commonName T>A TP53_g.13318T>A protEffect p.Ser227Ser TP53_g.13760T>A commonName T>A TP53_g.11484del commonName del1 TP53_g.12684T>C commonName T>C TP53_g.12684T>C protEffect p.Tyr205Tyr TP53_g.13832A>G commonName A>G TP53_g.13832A>G protEffect p.Thr284Thr TP53_g.12705T>G commonName T>G TP53_g.12705T>G protEffect p.Phe212Leu TP53_g.13330C>A commonName C>A TP53_g.13330C>A protEffect p.Thr231Thr TP53_g.13896_13899del commonName del4 TP53_g.16894C>G commonName C>G TP53_g.16894C>G protEffect p.Arg335Gly TP53_g.13788_13789del commonName del2 TP53_g.14022A>T commonName A>T TP53_g.14022A>T protEffect p.Gln317Leu TP53_g.13391_13426del commonName del36 TP53_g.13319G>T commonName G>T TP53_g.13319G>T protEffect p.Asp228Tyr TP53_g.13328del commonName del1 TP53_g.12459C>A commonName C>A TP53_g.12459C>A protEffect p.Val157Val TP53_g.13325A>T commonName A>T TP53_g.13325A>T protEffect p.Thr230Ser TP53_g.12429T>G commonName T>G TP53_g.12429T>G protEffect p.Val147Val TP53_g.13791_13793delinsTAA commonName GAG>TAA TP53_g.13791_13793delinsTAA protEffect E271X TP53_g.12486A>C commonName A>C TP53_g.12486A>C protEffect p.Ser166Ser TP53_g.14006A>T commonName A>T TP53_g.14006A>T protEffect p.Thr312Ser TP53_g.14030A>T commonName A>T TP53_g.14030A>T protEffect p.Lys320STOP TP53_g.12510G>T commonName G>T TP53_g.12510G>T protEffect p.Arg174Ser TP53_g.12513C>T commonName C>T TP53_g.12513C>T protEffect p.Arg175Arg TP53_g.13378C>A commonName C>A TP53_g.13378C>A protEffect p.Asn247Lys TP53_g.12546T>A commonName T>A TP53_g.12546T>A protEffect p.Asp186Glu TP53_g.13343_13344del commonName del2 TP53_g.12535_12542del commonName del8 TP53_g.13854_13857del commonName del4 TP53_g.12718del commonName del1 TP53_g.12729T>G commonName T>G TP53_g.12729T>G protEffect p.Tyr220STOP TP53_g.12410G>C commonName G>C TP53_g.12410G>C protEffect p.Cys141Ser TP53_g.11524C>T commonName C>T TP53_g.11524C>T protEffect p.Pro98Leu TP53_g.11498C>T commonName C>T TP53_g.11498C>T protEffect p.Pro89Pro TP53_g.11570C>T commonName C>T TP53_g.11570C>T protEffect p.Phe113Phe TP53_g.13759G>A commonName G>A TP53_g.12546_12547ins2 commonName ins2 TP53_g.11537C>T commonName C>T TP53_g.11537C>T protEffect p.Thr102Thr TP53_g.11497C>T commonName C>T TP53_g.11497C>T protEffect p.Pro89Leu TP53_g.11522C>T commonName C>T TP53_g.11522C>T protEffect p.Val97Val TP53_g.11421del commonName del1 TP53_g.11556del commonName del1 TP53_g.16919A>G commonName A>G TP53_g.16919A>G protEffect p.Glu343Gly TP53_g.13857_13873del commonName del17 TP53_g.14021del commonName del1 TP53_g.12679G>A commonName G>A TP53_g.12679G>A protEffect p.Glu204Lys TP53_g.11018C>T commonName C>T TP53_g.11018C>T protEffect p.Gln5STOP TP53_g.11590A>T commonName A>T TP53_g.11590A>T protEffect p.Lys120Met TP53_g.11599C>T commonName C>T TP53_g.11599C>T protEffect p.Thr123Ile TP53_g.12366C>T commonName C>T TP53_g.12366C>T protEffect p.Tyr126Tyr TP53_g.14032G>A commonName G>A TP53_g.14032G>A protEffect p.Lys320Lys TP53_g.17945G>A commonName G>A TP53_g.17945G>A protEffect p.Arg379His TP53_g.12560_12561del commonName del2 TP53_g.13905C>T commonName C>T TP53_g.12623T>G commonName T>G TP53_g.13369_13370ins10 commonName ins10 TP53_g.12514_12531del commonName del18 TP53_g.13895G>C commonName G>C TP53_g.13895G>C protEffect p.Lys305Asn TP53_g.13292G>C commonName G>C TP53_g.12719T>G commonName T>G TP53_g.12719T>G protEffect p.Val217Gly TP53_g.12481_12483del commonName del3 TP53_g.12715_12716del commonName del2 TP53_g.13866C>A commonName C>A TP53_g.13866C>A protEffect p.His296Asn TP53_g.14018_14019del commonName del2 TP53_g.12681_12682ins2 commonName ins2 TP53_g.14053T>C commonName T>C TP53_g.14053T>C protEffect p.Tyr327Tyr TP53_g.12743T>A commonName T>A TP53_g.12726C>A commonName C>A TP53_g.12726C>A protEffect p.Pro219Pro TP53_g.12643_12644del commonName del2 TP53_g.13400_13401del commonName del2 TP53_g.12378C>T commonName C>T TP53_g.12378C>T protEffect p.Leu130Leu TP53_g.12384_12385ins1 commonName ins1 TP53_g.12430_12432delinsTGA commonName GAT>TGA TP53_g.12430_12432delinsTGA protEffect D148X TP53_g.12639T>G commonName T>G TP53_g.12639T>G protEffect p.Pro190Pro TP53_g.14001A>C commonName A>C TP53_g.14001A>C protEffect p.Asn310Thr TP53_g.13322_13324delinsTA commonName TGT>TA TP53_g.13352_13354delinsTAA commonName AAC>TAA TP53_g.13352_13354delinsTAA protEffect N239X TP53_g.13874_13875ins1 commonName ins1 TP53_g.13371_13372delinsAA commonName GC>AA TP53_g.13371_13372delinsAA protEffect p.Gly245Glu TP53_g.13392T>A commonName T>A TP53_g.13392T>A protEffect p.Leu252His TP53_g.14000_14001delinsTT commonName AA>TT TP53_g.14000_14001delinsTT protEffect p.Asn310Leu TP53_g.13355_13357delinsCCC commonName AGT>CCC TP53_g.13355_13357delinsCCC protEffect S240P TP53_g.14037C>G commonName C>G TP53_g.14037C>G protEffect p.Pro322Arg TP53_g.14039del commonName del1 TP53_g.14039_14040delinsGG commonName CT>GG TP53_g.14039_14040delinsGG protEffect p.Leu323Gly TP53_g.12395A>C commonName A>C TP53_g.12395A>C protEffect p.Gln136Pro TP53_g.13996G>C commonName G>C TP53_g.13996G>C protEffect p.Leu308Leu TP53_g.13368_13369delinsAA commonName GC>AA TP53_g.13368_13369delinsAA protEffect p.Gly244Glu TP53_g.13893_13895delinsTAA commonName AAG>TAA TP53_g.13893_13895delinsTAA protEffect K305X TP53_g.14040T>G commonName T>G TP53_g.14040T>G protEffect p.Leu323Arg TP53_g.14016C>G commonName C>G TP53_g.14016C>G protEffect p.Ser315Cys TP53_g.12652_12653delinsTA commonName AT>TA TP53_g.12652_12653delinsTA protEffect p.Ile195Tyr TP53_g.13878C>G commonName C>G TP53_g.13878C>G protEffect p.Pro300Ala TP53_g.12691_12728del commonName del38 TP53_g.12640_12647del commonName del8 TP53_g.12433_12511del commonName del79 TP53_g.16883A>T commonName A>T TP53_g.12635del commonName del1 TP53_g.11540C>G commonName C>G TP53_g.11540C>G protEffect p.Tyr103STOP TP53_g.12381C>T commonName C>T TP53_g.12381C>T protEffect p.Asn131Asn TP53_g.12365A>T commonName A>T TP53_g.12365A>T protEffect p.Tyr126Phe TP53_g.13396C>G commonName C>G TP53_g.13396C>G protEffect p.Thr253Thr TP53_g.12508A>C commonName A>C TP53_g.12508A>C protEffect p.Arg174Arg TP53_g.13847C>G commonName C>G TP53_g.13847C>G protEffect p.Leu289Leu TP53_g.13809_13838del commonName del30 TP53_g.11526del commonName del1 TP53_g.11603_11604ins1 commonName ins1 TP53_g.13782A>T commonName A>T TP53_g.13782A>T protEffect p.Asn268Tyr TP53_g.13792A>C commonName A>C TP53_g.13792A>C protEffect p.Glu271Ala TP53_g.13403_13411del commonName del9 TP53_g.12409_12417del commonName del9 TP53_g.12627A>G commonName A>G TP53_g.13376_13379del commonName del4 TP53_g.13339C>G commonName C>G TP53_g.13339C>G protEffect p.Tyr234STOP TP53_g.13340_13342del commonName del3 TP53_g.13331A>C commonName A>C TP53_g.13331A>C protEffect p.Ile232Leu TP53_g.12637C>G commonName C>G TP53_g.12637C>G protEffect p.Pro190Ala TP53_g.12733C>A commonName C>A TP53_g.12733C>A protEffect p.Pro222Thr TP53_g.12729T>A commonName T>A TP53_g.12729T>A protEffect p.Tyr220STOP TP53_g.13378C>G commonName C>G TP53_g.13378C>G protEffect p.Asn247Lys TP53_g.30018_30031del commonName del14 TP53_g.16885del commonName del1 TP53_g.11027C>T commonName C>T TP53_g.11027C>T protEffect p.Pro8Ser TP53_g.11048A>C commonName A>C TP53_g.11048A>C protEffect p.Ser15Arg TP53_g.11413A>G commonName A>G TP53_g.11413A>G protEffect p.Asp61Gly TP53_g.11317C>T commonName C>T TP53_g.11534_11535ins1 commonName ins1 TP53_g.11543G>T commonName G>T TP53_g.11543G>T protEffect p.Gln104His TP53_g.17962T>C commonName T>C TP53_g.17962T>C protEffect p.Phe385Leu TP53_g.11547A>G commonName A>G TP53_g.11547A>G protEffect p.Ser106Gly TP53_g.16992G>A commonName G>A TP53_g.11082G>A commonName G>A TP53_g.13306C>T commonName C>T TP53_g.16929G>A commonName G>A TP53_g.16929G>A protEffect p.Glu346Glu TP53_g.16979G>A commonName G>A TP53_g.16979G>A protEffect p.Arg363Lys TP53_g.16878G>A commonName G>A TP53_g.16974G>A commonName G>A TP53_g.16974G>A protEffect p.Gly361Gly TP53_g.16984C>T commonName C>T TP53_g.16984C>T protEffect p.His365Tyr TP53_g.11035C>T commonName C>T TP53_g.11035C>T protEffect p.Val10Val TP53_g.16982C>T commonName C>T TP53_g.16982C>T protEffect p.Ala364Val TP53_g.12432T>C commonName T>C TP53_g.12432T>C protEffect p.Asp148Asp TP53_g.13884G>A commonName G>A TP53_g.12444G>C commonName G>C TP53_g.12444G>C protEffect p.Pro152Pro TP53_g.12415G>C commonName G>C TP53_g.12688G>C commonName G>C TP53_g.12688G>C protEffect p.Asp207His TP53_g.12719T>A commonName T>A TP53_g.12719T>A protEffect p.Val217Glu TP53_g.12466A>T commonName A>T TP53_g.12466A>T protEffect p.Met160Leu TP53_g.12498G>T commonName G>T TP53_g.12498G>T protEffect p.Thr170Thr TP53_g.12690T>C commonName T>C TP53_g.12690T>C protEffect p.Asp207Asp TP53_g.12417G>C commonName G>C TP53_g.12417G>C protEffect p.Val143Val TP53_g.12681G>A commonName G>A TP53_g.12681G>A protEffect p.Glu204Glu TP53_g.12382_12392del commonName del11 TP53_g.12664G>T commonName G>T TP53_g.12664G>T protEffect p.Gly199STOP TP53_g.16891G>T commonName G>T TP53_g.16891G>T protEffect p.Gly334Trp TP53_g.12375_12376ins6 commonName ins6 TP53_g.11431C>G commonName C>G TP53_g.11431C>G protEffect p.Pro67Arg TP53_g.12430_12432delinsGG commonName GAT>GG TP53_g.13764_13769delinsCCTGAT commonName GGTAAT>CCTGAT TP53_g.13764_13769delinsCCTGAT protEffect G262P;N263D] TP53_g.13866_13890del commonName del25 TP53_g.13830_13838del commonName del9 TP53_g.13796_13797delinsAA commonName GC>AA TP53_g.13796_13797delinsAA protEffect R273S TP53_g.13335A>T commonName A>T TP53_g.13335A>T protEffect p.His233Leu TP53_g.12546T>C commonName T>C TP53_g.12546T>C protEffect p.Asp186Asp TP53_g.12544_12561del commonName del18 TP53_g.13365_13366delinsCA commonName TG>CA TP53_g.13365_13366delinsCA protEffect p.Met243Thr TP53_g.12412C>A commonName C>A TP53_g.12412C>A protEffect p.Pro142Thr TP53_g.12420G>T commonName G>T TP53_g.12420G>T protEffect p.Gln144His TP53_g.12403_12411del commonName del9 TP53_g.12514_12519del commonName del6 TP53_g.12460_12461delinsTA commonName CG>TA TP53_g.12460_12461delinsTA protEffect p.Arg158Tyr TP53_g.12443C>G commonName C>G TP53_g.12443C>G protEffect p.Pro152Arg TP53_g.16901G>A commonName G>A TP53_g.16901G>A protEffect p.Arg337His TP53_g.13356G>A commonName G>A TP53_g.13356G>A protEffect p.Ser240Asn TP53_g.11547_11612del commonName del66 TP53_g.11557T>G commonName T>G TP53_g.11557T>G protEffect p.Phe109Cys TP53_g.11593C>T commonName C>T TP53_g.11593C>T protEffect p.Ser121Phe TP53_g.12458T>C commonName T>C TP53_g.12458T>C protEffect p.Val157Ala TP53_g.12731A>C commonName A>C TP53_g.12731A>C protEffect p.Glu221Ala TP53_g.13390C>T commonName C>T TP53_g.13390C>T protEffect p.Ile251Ile TP53_g.13799T>A commonName T>A TP53_g.13799T>A protEffect p.Arg273Arg TP53_g.13866_13867delinsTG commonName CA>TG TP53_g.13866_13867delinsTG protEffect p.His296Cys TP53_g.13847C>A commonName C>A TP53_g.13847C>A protEffect p.Leu289Leu TP53_g.13883A>T commonName A>T TP53_g.13883A>T protEffect p.Pro301Pro TP53_g.13852A>T commonName A>T TP53_g.13852A>T protEffect p.Lys291Met TP53_g.13847C>T commonName C>T TP53_g.13847C>T protEffect p.Leu289Leu TP53_g.12704T>A commonName T>A TP53_g.12704T>A protEffect p.Phe212Tyr TP53_g.13385_13390del commonName del6 TP53_g.13993A>G commonName A>G TP53_g.13993A>G protEffect p.Ala307Ala TP53_g.12439_12444del commonName del6 TP53_g.12511del commonName del1 TP53_g.13383_13384delinsAT commonName GG>AT TP53_g.13383_13384delinsAT protEffect p.Arg249Asn TP53_g.11421_11481del commonName del61 TP53_g.11553del commonName del1 TP53_g.11558_11559ins14 commonName ins14 TP53_g.11600_11601ins5 commonName ins5 TP53_g.13793_13794ins2 commonName ins2 TP53_g.13848del commonName del1 TP53_g.13833_13844del commonName del12 TP53_g.16915_16926del commonName del12 TP53_g.11608T>G commonName T>G TP53_g.12362A>C commonName A>C TP53_g.11415_11418del commonName del4 TP53_g.12700del commonName del1 TP53_g.11513_11514ins17 commonName ins17 TP53_g.14060_14061del commonName del2 TP53_g.13806_13861del commonName del56 TP53_g.11484_11499del commonName del16 TP53_g.11486_11487ins4 commonName ins4 TP53_g.12634_12635del commonName del2 TP53_g.14015_14039del commonName del25 TP53_g.13829_13830ins1 commonName ins1 TP53_g.13429C>T commonName C>T TP53_g.13376del commonName del1 TP53_g.30015_30037del commonName del23 TP53_g.12384G>A commonName G>A TP53_g.12384G>A protEffect p.Lys132Lys TP53_g.12374C>T commonName C>T TP53_g.12374C>T protEffect p.Ala129Val TP53_g.12699C>T commonName C>T TP53_g.12699C>T protEffect p.Asn210Asn TP53_g.12654C>T commonName C>T TP53_g.12654C>T protEffect p.Ile195Ile TP53_g.12655_12656delinsTC commonName CG>TC TP53_g.12655_12656delinsTC protEffect p.Arg196Ser TP53_g.12717G>A commonName G>A TP53_g.12717G>A protEffect p.Val216Val TP53_g.13414C>T commonName C>T TP53_g.13414C>T protEffect p.Asp259Asp TP53_g.13333C>T commonName C>T TP53_g.13333C>T protEffect p.Ile232Ile TP53_g.13406C>T commonName C>T TP53_g.13406C>T protEffect p.Leu257Leu TP53_g.13808C>T commonName C>T TP53_g.13808C>T protEffect p.Ala276Ala TP53_g.13880C>T commonName C>T TP53_g.13880C>T protEffect p.Pro300Pro TP53_g.12436A>G commonName A>G TP53_g.12436A>G protEffect p.Thr150Ala TP53_g.13334del commonName del1 TP53_g.14046G>C commonName G>C TP53_g.14046G>C protEffect p.Gly325Ala TP53_g.11592del commonName del1 TP53_g.13415T>C commonName T>C TP53_g.13415T>C protEffect p.Ser260Pro TP53_g.12418_12450del commonName del33 TP53_g.14009A>T commonName A>T TP53_g.14009A>T protEffect p.Ser313Cys TP53_g.12536_12562del commonName del27 TP53_g.13825_13826delinsAT commonName GG>AT TP53_g.13825_13826delinsAT protEffect p.Arg282His TP53_g.12360A>G commonName A>G TP53_g.12712_12721del commonName del10 TP53_g.12709del commonName del1 TP53_g.12679_12680del commonName del2 TP53_g.12480_12481delinsAT commonName GC>AT TP53_g.12480_12481delinsAT protEffect Q165X TP53_g.16895G>A commonName G>A TP53_g.16895G>A protEffect p.Arg335His TP53_g.11366_11367ins16 commonName ins16 TP53_g.12523_12540del commonName del18 TP53_g.13892_13893ins23 commonName ins23 TP53_g.16912del commonName del1 TP53_g.12463_12464del commonName del2 TP53_g.13800_13801del commonName del2 TP53_g.13390_13391ins3 commonName ins3 TP53_g.11332C>T commonName C>T TP53_g.11332C>T protEffect p.Pro34Leu TP53_g.11460_11461del commonName del2 TP53_g.11488C>T commonName C>T TP53_g.11488C>T protEffect p.Ala86Val TP53_g.11567C>T commonName C>T TP53_g.11567C>T protEffect p.Gly112Gly TP53_g.12403_12404del commonName del2 TP53_g.12457_12464del commonName del8 TP53_g.12549T>A commonName T>A TP53_g.12661_12671del commonName del11 TP53_g.13388_13389del commonName del2 TP53_g.13872_13883del commonName del12 TP53_g.14029_14030ins4 commonName ins4 TP53_g.11328del commonName del1 TP53_g.11352del commonName del1 TP53_g.11469_11475del commonName del7 TP53_g.11517_11518del commonName del2 TP53_g.12688_12695del commonName del8 TP53_g.12712_12715del commonName del4 TP53_g.12739del commonName del1 TP53_g.13390_13391ins1 commonName ins1 TP53_g.13415_13417del commonName del3 TP53_g.13806_13821del commonName del16 TP53_g.13848_13863del commonName del16 TP53_g.13878_13881del commonName del4 TP53_g.12386T>G commonName T>G TP53_g.12386T>G protEffect p.Met133Arg TP53_g.13844T>A commonName T>A TP53_g.13844T>A protEffect p.Asn288Lys TP53_g.12457_12462del commonName del6 TP53_g.12690T>A commonName T>A TP53_g.12690T>A protEffect p.Asp207Glu TP53_g.12447_12448ins3 commonName ins3 TP53_g.12483_12484ins9 commonName ins9 TP53_g.11605C>A commonName C>A TP53_g.11605C>A protEffect p.Thr125Lys TP53_g.11417A>G commonName A>G TP53_g.11417A>G protEffect p.Glu62Glu TP53_g.11393C>T commonName C>T TP53_g.11393C>T protEffect p.Phe54Phe TP53_g.11482C>G commonName C>G TP53_g.11482C>G protEffect p.Ala84Gly TP53_g.13314G>C commonName G>C TP53_g.13314G>C protEffect p.Gly226Ala TP53_g.14027A>G commonName A>G TP53_g.14027A>G protEffect p.Lys319Glu TP53_g.12730del commonName del1 TP53_g.12393_12394ins3 commonName ins3 TP53_g.13771T>C commonName T>C TP53_g.13771T>C protEffect p.Leu264Pro TP53_g.13791_13792delinsCC commonName GA>CC TP53_g.13791_13792delinsCC protEffect p.Glu271Pro TP53_g.13986_13987ins1 commonName ins1 TP53_g.11559C>A commonName C>A TP53_g.11559C>A protEffect p.Arg110Ser TP53_g.13815_13816del commonName del2 TP53_g.13874_13875ins10 commonName ins10 TP53_g.13372_13373ins1 commonName ins1 TP53_g.30014del commonName del1 TP53_g.30016_30017ins1 commonName ins1 TP53_g.12370C>G commonName C>G TP53_g.12370C>G protEffect p.Pro128Ala TP53_g.30018del commonName del1 TP53_g.30015del commonName del1 TP53_g.13310G>T commonName G>T TP53_g.13310G>T protEffect p.Val225Phe TP53_g.13418_13426del commonName del9 TP53_g.13376_13387del commonName del12 TP53_g.14037C>T commonName C>T TP53_g.14037C>T protEffect p.Pro322Leu TP53_g.11611G>A commonName G>A TP53_g.11327G>A commonName G>A TP53_g.14030_14032del commonName del3 TP53_g.13333_13334ins11 commonName ins11 TP53_g.12733del commonName del1 TP53_g.12487_12496del commonName del10 TP53_g.12664_12694del commonName del31 TP53_g.13325_13334del commonName del10 TP53_g.13866_13887del commonName del22 TP53_g.13887_13889delinsGT commonName AGC>GT TP53_g.12403A>T commonName A>T TP53_g.12403A>T protEffect p.Lys139STOP TP53_g.16906_16926del commonName del21 TP53_g.16901G>C commonName G>C TP53_g.16901G>C protEffect p.Arg337Pro TP53_g.13894A>T commonName A>T TP53_g.13894A>T protEffect p.Lys305Met TP53_g.13812_13813del commonName del2 TP53_g.12547_12563del commonName del17 TP53_g.11459A>T commonName A>T TP53_g.11459A>T protEffect p.Ala76Ala TP53_g.11517T>C commonName T>C TP53_g.11517T>C protEffect p.Ser96Pro TP53_g.13994C>A commonName C>A TP53_g.13994C>A protEffect p.Leu308Met TP53_g.16903T>A commonName T>A TP53_g.16903T>A protEffect p.Phe338Ile TP53_g.12738_12739ins6 commonName ins6 TP53_g.13313_13314del commonName del2 TP53_g.12366_12370delinsA commonName CTCCC>A TP53_g.13366_13367ins9 commonName ins9 TP53_g.13790_13791ins6 commonName ins6 TP53_g.12445del commonName del1 TP53_g.13818_13820del commonName del3 TP53_g.12401_12402delinsTA commonName CC>TA TP53_g.12401_12402delinsTA protEffect p.Ala138Val TP53_g.12454_12456del commonName del3 TP53_g.13322_13328del commonName del7 TP53_g.13878_13879del commonName del2 TP53_g.12423G>A commonName G>A TP53_g.12423G>A protEffect p.Leu145Leu TP53_g.12521A>G commonName A>G TP53_g.12521A>G protEffect p.His178Arg TP53_g.12382_12402del commonName del21 TP53_g.12431A>T commonName A>T TP53_g.12431A>T protEffect p.Asp148Val TP53_g.13325del commonName del1 TP53_g.11566G>A commonName G>A TP53_g.11566G>A protEffect p.Gly112Asp TP53_g.12550G>A commonName G>A TP53_g.12687G>A commonName G>A TP53_g.12687G>A protEffect p.Leu206Leu TP53_g.12441C>A commonName C>A TP53_g.12441C>A protEffect p.Pro151Pro TP53_g.12541A>T commonName A>T TP53_g.12541A>T protEffect p.Ser185Cys TP53_g.12543_12544ins1 commonName ins1 TP53_g.12538_12539ins1 commonName ins1 TP53_g.12628_12629ins1 commonName ins1 TP53_g.13339C>T commonName C>T TP53_g.13339C>T protEffect p.Tyr234Tyr TP53_g.13339_13340ins1 commonName ins1 TP53_g.13773C>A commonName C>A TP53_g.13773C>A protEffect p.Leu265Met TP53_g.17940_17941ins2 commonName ins2 TP53_g.12657_12658ins2 commonName ins2 TP53_g.13349_13350delinsCA commonName TG>CA TP53_g.13349_13350delinsCA protEffect p.Cys238His TP53_g.12426G>C commonName G>C TP53_g.12426G>C protEffect p.Trp146Cys TP53_g.12519_12520delinsAT commonName CC>AT TP53_g.12519_12520delinsAT protEffect H178Y TP53_g.13322_13323delinsAA commonName TG>AA TP53_g.13322_13323delinsAA protEffect p.Cys229Asn TP53_g.17917A>C commonName A>C TP53_g.17917A>C protEffect p.Lys370Gln TP53_g.12434_12435delinsTT commonName CC>TT TP53_g.12434_12435delinsTT protEffect p.Ser149Phe TP53_g.13781_13782ins13 commonName ins13 TP53_g.12495_12496ins2 commonName ins2 TP53_g.30005_30006del commonName del2 TP53_g.12702_12703ins3 commonName ins3 TP53_g.12479A>C commonName A>C TP53_g.12479A>C protEffect p.Lys164Thr TP53_g.11411A>T commonName A>T TP53_g.11411A>T protEffect p.Pro60Pro TP53_g.11508C>A commonName C>A TP53_g.11508C>A protEffect p.Leu93Met TP53_g.14029G>T commonName G>T TP53_g.14029G>T protEffect p.Lys319Asn TP53_g.12446C>A commonName C>A TP53_g.12446C>A protEffect p.Pro153His TP53_g.11560del commonName del1 TP53_g.12424T>G commonName T>G TP53_g.12424T>G protEffect p.Trp146Gly TP53_g.11449T>A commonName T>A TP53_g.11449T>A protEffect p.Val73Glu TP53_g.12483G>T commonName G>T TP53_g.12483G>T protEffect p.Gln165His TP53_g.14010G>A commonName G>A TP53_g.14010G>A protEffect p.Ser313Asn TP53_g.30003del commonName del1 TP53_g.12394_12405del commonName del12 TP53_g.13882C>A commonName C>A TP53_g.13882C>A protEffect p.Pro301Gln TP53_g.13313_13314delinsAA commonName GG>AA TP53_g.13313_13314delinsAA protEffect p.Gly226Asn TP53_g.13880_13881delinsTT commonName CC>TT TP53_g.13880_13881delinsTT protEffect P301S TP53_g.13357_13358delinsCC commonName TT>CC TP53_g.13357_13358delinsCC protEffect S241P TP53_g.13853G>T commonName G>T TP53_g.13853G>T protEffect p.Lys291Asn TP53_g.12607A>G commonName A>G TP53_g.13793_13794ins1 commonName ins1 TP53_g.13790_13791ins1 commonName ins1 TP53_g.11406_11407delinsAA commonName GG>AA TP53_g.11406_11407delinsAA protEffect p.Gly59Asn TP53_g.12519_12520delinsTT commonName CC>TT TP53_g.12519_12520delinsTT protEffect H178Y TP53_g.12518_12519delinsAT commonName CC>AT TP53_g.12518_12519delinsAT protEffect p.Pro177His TP53_g.13419_13420delinsAA commonName GG>AA TP53_g.13419_13420delinsAA protEffect p.Ser261Asn TP53_g.13370_13371delinsTT commonName GG>TT TP53_g.13370_13371delinsTT protEffect p.Gly245Phe TP53_g.30002_30025del commonName del24 TP53_g.12493_12494ins1 commonName ins1 TP53_g.13364A>C commonName A>C TP53_g.13364A>C protEffect p.Met243Leu TP53_g.16934T>A commonName T>A TP53_g.16934T>A protEffect p.Leu348STOP TP53_g.13869C>G commonName C>G TP53_g.13869C>G protEffect p.His297Asp TP53_g.12394_12409del commonName del16 TP53_g.12432_12433ins1 commonName ins1 TP53_g.12711_12712del commonName del2 TP53_g.13318_13319ins1 commonName ins1 TP53_g.14054_14059del commonName del6 TP53_g.16904_16905ins18 commonName ins18 TP53_g.13369_13370ins1 commonName ins1 TP53_g.12480G>C commonName G>C TP53_g.12480G>C protEffect p.Lys164Asn TP53_g.11340T>C commonName T>C TP53_g.11340T>C protEffect p.Ser37Pro TP53_g.13340A>C commonName A>C TP53_g.13340A>C protEffect p.Asn235His TP53_g.12441C>G commonName C>G TP53_g.12441C>G protEffect p.Pro151Pro TP53_g.13817G>T commonName G>T TP53_g.13817G>T protEffect p.Gly279Gly TP53_g.12404_12405ins1 commonName ins1 TP53_g.12758G>C commonName G>C TP53_g.13329C>A commonName C>A TP53_g.13329C>A protEffect p.Thr231Asn TP53_g.13776_13793del commonName del18 TP53_g.12392_12393ins1 commonName ins1 TP53_g.11447_11448ins1 commonName ins1 TP53_g.13315C>A commonName C>A TP53_g.13315C>A protEffect p.Gly226Gly TP53_g.13886G>C commonName G>C TP53_g.13886G>C protEffect p.Gly302Gly TP53_g.12678G>C commonName G>C TP53_g.12678G>C protEffect p.Val203Val TP53_g.12402C>A commonName C>A TP53_g.12402C>A protEffect p.Ala138Ala TP53_g.14006del commonName del1 TP53_g.12450_12451ins1 commonName ins1 TP53_g.12472_12474delinsGTT commonName ATC>GTT TP53_g.12472_12474delinsGTT protEffect I162V TP53_g.12377T>C commonName T>C TP53_g.12377T>C protEffect p.Leu130Pro TP53_g.13377_13378delinsTA commonName AC>TA TP53_g.13377_13378delinsTA protEffect p.Asn247Ile TP53_g.30002_30027del commonName del26 TP53_g.11457G>A commonName G>A TP53_g.11457G>A protEffect p.Ala76Thr TP53_g.12385A>G commonName A>G TP53_g.12385A>G protEffect p.Met133Val TP53_g.11453C>T commonName C>T TP53_g.11453C>T protEffect p.Ala74Ala TP53_g.13354C>T commonName C>T TP53_g.13354C>T protEffect p.Asn239Asn TP53_g.12775G>A commonName G>A TP53_g.13424G>A commonName G>A TP53_g.11382_11385del commonName del4 TP53_g.13882_13886del commonName del5 TP53_g.11458C>G commonName C>G TP53_g.11458C>G protEffect p.Ala76Gly TP53_g.13382A>C commonName A>C TP53_g.13382A>C protEffect p.Arg249Arg TP53_g.11589_11718del commonName del130 TP53_g.11444C>T commonName C>T TP53_g.11444C>T protEffect p.Pro71Pro TP53_g.11444_11445ins1 commonName ins1 TP53_g.11525T>A commonName T>A TP53_g.11525T>A protEffect p.Pro98Pro TP53_g.12433_12434del commonName del2 TP53_g.13866del commonName del1 TP53_g.13421T>G commonName T>G TP53_g.12536C>A commonName C>A TP53_g.12536C>A protEffect p.Ser183STOP TP53_g.12448G>T commonName G>T TP53_g.12448G>T protEffect p.Gly154Cys TP53_g.12541A>G commonName A>G TP53_g.12541A>G protEffect p.Ser185Gly TP53_g.12661_12662ins1 commonName ins1 TP53_g.12691G>C commonName G>C TP53_g.12691G>C protEffect p.Asp208His TP53_g.14064A>C commonName A>C TP53_g.14064A>C protEffect p.Gln331Pro TP53_g.14030_14031ins2 commonName ins2 TP53_g.14064_14065delinsCA commonName AG>CA TP53_g.14064_14065delinsCA protEffect p.Gln331Pro TP53_g.12435_12436ins8 commonName ins8 TP53_g.12444_12445ins8 commonName ins8 TP53_g.12460_12472del commonName del13 TP53_g.12499_12504del commonName del6 TP53_g.13309_13310ins6 commonName ins6 TP53_g.13360_13361ins3 commonName ins3 TP53_g.13411_13412ins1 commonName ins1 TP53_g.13775_13776ins10 commonName ins10 TP53_g.13824_13841del commonName del18 TP53_g.13827_13846del commonName del20 TP53_g.12430_12432del commonName del3 TP53_g.12457_12474del commonName del18 TP53_g.12475_12493del commonName del19 TP53_g.12487_12491del commonName del5 TP53_g.13345_13346ins6 commonName ins6 TP53_g.13351_13352ins4 commonName ins4 TP53_g.13818_13823del commonName del6 TP53_g.13827_13845del commonName del19 TP53_g.14045G>T commonName G>T TP53_g.14045G>T protEffect p.Gly325STOP TP53_g.14039_14056del commonName del18 TP53_g.12726C>T commonName C>T TP53_g.12726C>T protEffect p.Pro219Pro TP53_g.12540_12541ins2 commonName ins2 TP53_g.11384_11385ins3 commonName ins3 TP53_g.12413C>A commonName C>A TP53_g.12413C>A protEffect p.Pro142His TP53_g.12477_12489del commonName del13 TP53_g.13350_13356del commonName del7 TP53_g.11530A>G commonName A>G TP53_g.11530A>G protEffect p.Gln100Arg TP53_g.12406_12419del commonName del14 TP53_g.12515_12516del commonName del2 TP53_g.12631_12658del commonName del28 TP53_g.13339_13340ins9 commonName ins9 TP53_g.13385_13386del commonName del2 TP53_g.13766_13767ins9 commonName ins9 TP53_g.13796_13797ins25 commonName ins25 TP53_g.14061T>G commonName T>G TP53_g.14061T>G protEffect p.Leu330Arg TP53_g.12517_12535del commonName del19 TP53_g.12542G>A commonName G>A TP53_g.12542G>A protEffect p.Ser185Asn TP53_g.12489_12490delinsTG commonName GC>TG TP53_g.12489_12490delinsTG protEffect Q167H;H168D] TP53_g.12521A>T commonName A>T TP53_g.12521A>T protEffect p.His178Leu TP53_g.12396A>C commonName A>C TP53_g.12396A>C protEffect p.Gln136His TP53_g.12648_12649ins1 commonName ins1 TP53_g.12469_12470delinsTT commonName GC>TT TP53_g.12469_12470delinsTT protEffect p.Ala161Phe TP53_g.13357_13358ins1 commonName ins1 TP53_g.13403A>C commonName A>C TP53_g.13403A>C protEffect p.Thr256Pro TP53_g.14052_14053del commonName del2 TP53_g.13873A>T commonName A>T TP53_g.13873A>T protEffect p.Glu298Val TP53_g.11419del commonName del1 TP53_g.13842_13846del commonName del5 TP53_g.13872_13876del commonName del5 TP53_g.12459_12460del commonName del2 TP53_g.13416_13417ins1 commonName ins1 TP53_g.11466_11495del commonName del30 TP53_g.12388_12389ins1 commonName ins1 TP53_g.12474C>A commonName C>A TP53_g.12474C>A protEffect p.Ile162Ile TP53_g.12350_12372del commonName del23 TP53_g.13274del commonName del1 TP53_g.12730G>C commonName G>C TP53_g.12730G>C protEffect p.Glu221Gln TP53_g.12660G>T commonName G>T TP53_g.12660G>T protEffect p.Val197Val TP53_g.12633G>A commonName G>A TP53_g.12633G>A protEffect p.Leu188Leu TP53_g.12682_12683ins1 commonName ins1 TP53_g.11568_11586del commonName del19 TP53_g.12415_12421del commonName del7 TP53_g.12431_12432del commonName del2 TP53_g.12452_12466del commonName del15 TP53_g.12460_12461delinsTT commonName CG>TT TP53_g.12460_12461delinsTT protEffect p.Arg158Phe TP53_g.12498_12505del commonName del8 TP53_g.13412_13452del commonName del41 TP53_g.12689A>T commonName A>T TP53_g.12689A>T protEffect p.Asp207Val TP53_g.12700_12701del commonName del2 TP53_g.13352_13354del commonName del3 TP53_g.13352_13354del protEffect N239del TP53_g.13371_13372del commonName del2 TP53_g.13777_13778ins1 commonName ins1 TP53_g.13832del commonName del1 TP53_g.13834_13835ins48 commonName ins48 TP53_g.13848_13849ins33 commonName ins33 TP53_g.13861del commonName del1 TP53_g.13337_13339delinsAAA commonName TAC>AAA TP53_g.13337_13339delinsAAA protEffect Y234K TP53_g.12767G>A commonName G>A TP53_g.14019C>T commonName C>T TP53_g.14019C>T protEffect p.Pro316Leu TP53_g.13901T>G commonName T>G TP53_g.12742G>C commonName G>C TP53_g.13909C>T commonName C>T TP53_g.12758G>T commonName G>T TP53_g.13971C>T commonName C>T TP53_g.12781G>T commonName G>T TP53_g.12773G>T commonName G>T TP53_g.12457_12459del commonName del3 TP53_g.13914C>T commonName C>T TP53_g.12766_12767delinsAA commonName GG>AA TP53_g.12522C>A commonName C>A TP53_g.12522C>A protEffect p.His178Gln TP53_g.12766G>A commonName G>A TP53_g.13828_13857del commonName del30 TP53_g.12520_12522del commonName del3 TP53_g.12429_12430ins4 commonName ins4 TP53_g.13781del commonName del1 TP53_g.13774T>G commonName T>G TP53_g.13774T>G protEffect p.Leu265Arg TP53_g.12521_12522ins1 commonName ins1 TP53_g.13847_13854del commonName del8 TP53_g.12368_12389del commonName del22 TP53_g.13325A>C commonName A>C TP53_g.13325A>C protEffect p.Thr230Pro TP53_g.13352_13364del commonName del13 TP53_g.13817G>A commonName G>A TP53_g.13817G>A protEffect p.Gly279Gly TP53_g.11343C>T commonName C>T TP53_g.11343C>T protEffect p.Gln38STOP TP53_g.12718_12762del commonName del45 TP53_g.12385_12392del commonName del8 TP53_g.11454C>T commonName C>T TP53_g.11454C>T protEffect p.Pro75Ser TP53_g.11575del commonName del1 TP53_g.11393_11394ins22 commonName ins22 TP53_g.12540_12545del commonName del6 TP53_g.12361_12362ins1 commonName ins1 TP53_g.12392_12393ins4 commonName ins4 TP53_g.11548del commonName del1 TP53_g.11436_11437del commonName del2 TP53_g.13874del commonName del1 TP53_g.12529_12530ins18 commonName ins18 TP53_g.13787_13788ins3 commonName ins3 TP53_g.12390_12407del commonName del18 TP53_g.12479_12482del commonName del4 TP53_g.12510_12521del commonName del12 TP53_g.13826G>C commonName G>C TP53_g.13826G>C protEffect p.Arg282Arg TP53_g.12468_12469delinsTT commonName GG>TT TP53_g.12468_12469delinsTT protEffect M160I;A161S] TP53_g.13381_13382del commonName del2 TP53_g.12700_12724del commonName del25 TP53_g.11569_11571del commonName del3 TP53_g.13898_13899ins74 commonName ins74 TP53_g.12417_12418delinsTT commonName GC>TT TP53_g.12417_12418delinsTT protEffect Q144X TP53_g.12439_12440ins1 commonName ins1 TP53_g.13313_13321del commonName del9 TP53_g.11512C>A commonName C>A TP53_g.11512C>A protEffect p.Ser94STOP TP53_g.16913del commonName del1 TP53_g.12457_12469del commonName del13 TP53_g.12664_12682del commonName del19 TP53_g.13819_13820del commonName del2 TP53_g.14008del commonName del1 TP53_g.11540_11541delinsAT commonName CC>AT TP53_g.11540_11541delinsAT protEffect Y103X TP53_g.12469_12470del commonName del2 TP53_g.12501G>T commonName G>T TP53_g.12501G>T protEffect p.Glu171Asp TP53_g.12384del commonName del1 TP53_g.13366_13367delinsTT commonName GG>TT TP53_g.13366_13367delinsTT protEffect M243I;G244C] TP53_g.13815_13836del commonName del22 TP53_g.13376_13384del commonName del9 TP53_g.13360_13361ins8 commonName ins8 TP53_g.13862_13865delinsACC commonName GCCT>ACC TP53_g.13861A>T commonName A>T TP53_g.13861A>T protEffect p.Glu294Val TP53_g.13891C>A commonName C>A TP53_g.13891C>A protEffect p.Thr304Asn TP53_g.13871_13872ins1 commonName ins1 TP53_g.13993_13994ins1 commonName ins1 TP53_g.13414_13415ins1 commonName ins1 TP53_g.12514_12515ins1 commonName ins1 TP53_g.12647_12648ins1 commonName ins1 TP53_g.11597_11608del commonName del12 TP53_g.13347_13348delinsCC commonName TG>CC TP53_g.13347_13348delinsCC protEffect p.Met237Thr TP53_g.12639T>C commonName T>C TP53_g.12639T>C protEffect p.Pro190Pro TP53_g.12645_12646delinsTT commonName GC>TT TP53_g.12645_12646delinsTT protEffect Q192H;H193Y] TP53_g.12430_12432delinsTAG commonName GAT>TAG TP53_g.12430_12432delinsTAG protEffect D148X TP53_g.12443del commonName del1 TP53_g.13379_13380delinsTT commonName CG>TT TP53_g.13379_13380delinsTT protEffect p.Arg248Leu TP53_g.13813del commonName del1 TP53_g.13836_13837del commonName del2 TP53_g.13825_13826delinsTC commonName GG>TC TP53_g.13825_13826delinsTC protEffect p.Arg282Leu TP53_g.13844T>C commonName T>C TP53_g.13844T>C protEffect p.Asn288Asn TP53_g.13858_13859delinsCC commonName GG>CC TP53_g.13858_13859delinsCC protEffect p.Gly293Ala TP53_g.13868C>G commonName C>G TP53_g.13868C>G protEffect p.His296Gln TP53_g.13822del commonName del1 TP53_g.13413_13414delinsGT commonName AC>GT TP53_g.13413_13414delinsGT protEffect p.Asp259Gly TP53_g.12527A>T commonName A>T TP53_g.12527A>T protEffect p.Glu180Val TP53_g.13319_13320delinsCC commonName GA>CC TP53_g.13319_13320delinsCC protEffect p.Asp228Pro TP53_g.13844_13845delinsCT commonName TC>CT TP53_g.13844_13845delinsCT protEffect L289F TP53_g.13391C>G commonName C>G TP53_g.13391C>G protEffect p.Leu252Val TP53_g.13836_13837delinsTT commonName GA>TT TP53_g.13836_13837delinsTT protEffect p.Glu286Leu TP53_g.13317C>G commonName C>G TP53_g.13317C>G protEffect p.Ser227Cys TP53_g.13348del commonName del1 TP53_g.12445C>G commonName C>G TP53_g.12445C>G protEffect p.Pro153Ala TP53_g.13383_13384delinsCC commonName GG>CC TP53_g.13383_13384delinsCC protEffect p.Arg249Thr TP53_g.12426del commonName del1 TP53_g.12464C>G commonName C>G TP53_g.12464C>G protEffect p.Ala159Gly TP53_g.12644_12645delinsCC commonName AG>CC TP53_g.12644_12645delinsCC protEffect p.Gln192Pro TP53_g.12693C>T commonName C>T TP53_g.12693C>T protEffect p.Asp208Asp TP53_g.13419G>T commonName G>T TP53_g.13419G>T protEffect p.Ser261Ile TP53_g.12382A>T commonName A>T TP53_g.12382A>T protEffect p.Lys132STOP TP53_g.12709_12716del commonName del8 TP53_g.12455del commonName del1 TP53_g.13320A>T commonName A>T TP53_g.13320A>T protEffect p.Asp228Val TP53_g.16885A>G commonName A>G TP53_g.16885A>G protEffect p.Ile332Val TP53_g.11417A>C commonName A>C TP53_g.11417A>C protEffect p.Glu62Asp TP53_g.11412G>A commonName G>A TP53_g.11412G>A protEffect p.Asp61Asn TP53_g.12489G>C commonName G>C TP53_g.12489G>C protEffect p.Gln167His TP53_g.12638C>A commonName C>A TP53_g.12638C>A protEffect p.Pro190His TP53_g.11418G>A commonName G>A TP53_g.11418G>A protEffect p.Ala63Thr TP53_g.11512C>G commonName C>G TP53_g.11512C>G protEffect p.Ser94STOP TP53_g.14066_14067delinsAC commonName GT>AC TP53_g.12380_12382del commonName del3 TP53_g.12518_12527del commonName del10 TP53_g.12433_12434ins1 commonName ins1 TP53_g.14043_14044del commonName del2 TP53_g.16917_16918ins18 commonName ins18 TP53_g.13832_13846del commonName del15 TP53_g.13996_14000del commonName del5 TP53_g.12436A>C commonName A>C TP53_g.12436A>C protEffect p.Thr150Pro TP53_g.13369_13370delinsAT commonName CG>AT TP53_g.13369_13370delinsAT protEffect G245C TP53_g.13991G>C commonName G>C TP53_g.13831_13832del commonName del2 TP53_g.13777_13778del commonName del2 TP53_g.13409_13410ins3 commonName ins3 TP53_g.14021C>A commonName C>A TP53_g.14021C>A protEffect p.Gln317Lys TP53_g.13766_13767delinsAC commonName TA>AC TP53_g.13766_13767delinsAC protEffect N263H TP53_g.13768A>T commonName A>T TP53_g.13768A>T protEffect p.Asn263Ile TP53_g.13853_13854del commonName del2 TP53_g.13370_13377del commonName del8 TP53_g.11518C>G commonName C>G TP53_g.11518C>G protEffect p.Ser96Cys TP53_g.13377_13382del commonName del6 TP53_g.12499G>C commonName G>C TP53_g.12499G>C protEffect p.Glu171Gln TP53_g.12689_12690ins1 commonName ins1 TP53_g.12692_12718del commonName del27 TP53_g.11607G>C commonName G>C TP53_g.13772_13773ins2 commonName ins2 TP53_g.13806_13807ins2 commonName ins2 TP53_g.13387_13388ins18 commonName ins18 TP53_g.12642_12643ins40 commonName ins40 TP53_g.12362del commonName del1 TP53_g.13764_13769del commonName del6 TP53_g.12449G>C commonName G>C TP53_g.12449G>C protEffect p.Gly154Ala TP53_g.13801_13806del commonName del6 TP53_g.12652_12653ins1 commonName ins1 TP53_g.12364T>C commonName T>C TP53_g.12364T>C protEffect p.Tyr126His TP53_g.13352_13353ins1 commonName ins1 TP53_g.11340del commonName del1 TP53_g.13798_13799ins1 commonName ins1 TP53_g.12371C>G commonName C>G TP53_g.12371C>G protEffect p.Pro128Arg TP53_g.12547_12548delinsAA commonName GG>AA TP53_g.12547_12548delinsAA protEffect p.Gly187Asn TP53_g.11469C>T commonName C>T TP53_g.11469C>T protEffect p.Pro80Ser TP53_g.12738_12777del commonName del40 TP53_g.13864C>G commonName C>G TP53_g.13864C>G protEffect p.Pro295Arg TP53_g.12374_12377del commonName del4 TP53_g.12432del commonName del1 TP53_g.12510_12511del commonName del2 TP53_g.12699_12700del commonName del2 TP53_g.13359_13361del commonName del3 TP53_g.13386del commonName del1 TP53_g.13407_13408del commonName del2 TP53_g.13777_13794del commonName del18 TP53_g.13859del commonName del1 TP53_g.12612_12623del commonName del12 TP53_g.12475T>G commonName T>G TP53_g.12475T>G protEffect p.Tyr163Asp TP53_g.13334C>G commonName C>G TP53_g.13334C>G protEffect p.His233Asp TP53_g.12676_12677delinsTG commonName GT>TG TP53_g.12676_12677delinsTG protEffect p.Val203Trp TP53_g.12418_12431del commonName del14 TP53_g.11605C>G commonName C>G TP53_g.11605C>G protEffect p.Thr125Arg TP53_g.11478_11481del commonName del4 TP53_g.11538_11553del commonName del16 TP53_g.13411del commonName del1 TP53_g.12510_12511ins1 commonName ins1 TP53_g.13339_13340ins3 commonName ins3 TP53_g.11451G>A commonName G>A TP53_g.11451G>A protEffect p.Ala74Thr TP53_g.12651T>A commonName T>A TP53_g.12651T>A protEffect p.Leu194Leu TP53_g.13383_13384del commonName del2 TP53_g.12699del commonName del1 TP53_g.13816G>T commonName G>T TP53_g.13816G>T protEffect p.Gly279Val TP53_g.13868_13869delinsTT commonName CC>TT TP53_g.13868_13869delinsTT protEffect H297Y TP53_g.13870del commonName del1 TP53_g.11523C>T commonName C>T TP53_g.11523C>T protEffect p.Pro98Ser TP53_g.12689_12696del commonName del8 TP53_g.13854del commonName del1 TP53_g.13831C>T commonName C>T TP53_g.13831C>T protEffect p.Thr284Ile TP53_g.12367_12370del commonName del4 TP53_g.12469_12475del commonName del7 TP53_g.11369C>T commonName C>T TP53_g.11369C>T protEffect p.Ser46Ser TP53_g.11437del commonName del1 TP53_g.11597G>A commonName G>A TP53_g.11597G>A protEffect p.Val122Val TP53_g.12396del commonName del1 TP53_g.11378_11379del commonName del2 TP53_g.11608T>A commonName T>A TP53_g.13354_13355ins3 commonName ins3 TP53_g.13384_13385delinsTT commonName GC>TT TP53_g.13384_13385delinsTT protEffect R249S;P250S] TP53_g.13398_13405del commonName del8 TP53_g.13882_13883ins1 commonName ins1 TP53_g.14005del commonName del1 TP53_g.14031del commonName del1 TP53_g.14043del commonName del1 TP53_g.12478_12481del commonName del4 TP53_g.13340_13345del commonName del6 TP53_g.13806_13809del commonName del4 TP53_g.13846T>G commonName T>G TP53_g.13846T>G protEffect p.Leu289Arg TP53_g.11504_11505del commonName del2 TP53_g.13343_13344ins1 commonName ins1 TP53_g.11565_11566del commonName del2 TP53_g.12499_12524del commonName del26 TP53_g.12679del commonName del1 TP53_g.13791_13792del commonName del2 TP53_g.13785A>C commonName A>C TP53_g.13785A>C protEffect p.Ser269Arg TP53_g.11579_11580ins1 commonName ins1 TP53_g.12484_12485delinsGG commonName TC>GG TP53_g.12484_12485delinsGG protEffect p.Ser166Gly TP53_g.13897G>A commonName G>A TP53_g.13897G>A protEffect p.Arg306Gln TP53_g.14040_14042del commonName del3 TP53_g.14045_14050del commonName del6 TP53_g.12675_12676ins8 commonName ins8 TP53_g.13783A>T commonName A>T TP53_g.13783A>T protEffect p.Asn268Ile TP53_g.12492C>G commonName C>G TP53_g.12492C>G protEffect p.His168Gln TP53_g.12715_12729del commonName del15 TP53_g.11367_11378del commonName del12 TP53_g.11359T>A commonName T>A TP53_g.11359T>A protEffect p.Leu43STOP TP53_g.11599C>A commonName C>A TP53_g.11599C>A protEffect p.Thr123Asn TP53_g.13409del commonName del1 TP53_g.12721_12729del commonName del9 TP53_g.12406_12410del commonName del5 TP53_g.14024del commonName del1 TP53_g.13834A>C commonName A>C TP53_g.13834A>C protEffect p.Glu285Ala TP53_g.16896_16897ins4 commonName ins4 TP53_g.13417_13418ins200 commonName ins200 TP53_g.13899_13917del commonName del19 TP53_g.12724_12725delinsTG commonName CC>TG TP53_g.12724_12725delinsTG protEffect p.Pro219Cys TP53_g.13310_13318del commonName del9 TP53_g.12376_12378del commonName del3 TP53_g.13349_13375del commonName del27 TP53_g.13348_13349ins3 commonName ins3 TP53_g.13381_13382ins13 commonName ins13 TP53_g.13367_13368del commonName del2 TP53_g.11440_11441ins2 commonName ins2 TP53_g.13376_13392del commonName del17 TP53_g.13339_13340ins6 commonName ins6 TP53_g.12364_12371del commonName del8 TP53_g.12377T>A commonName T>A TP53_g.12377T>A protEffect p.Leu130His TP53_g.13899_13900del commonName del2 TP53_g.12726_12727ins1 commonName ins1 TP53_g.11552C>T commonName C>T TP53_g.11552C>T protEffect p.Tyr107Tyr TP53_g.11399A>G commonName A>G TP53_g.11399A>G protEffect p.Glu56Glu TP53_g.11534A>T commonName A>T TP53_g.11534A>T protEffect p.Lys101Asn TP53_g.11483C>T commonName C>T TP53_g.11483C>T protEffect p.Ala84Ala TP53_g.12543C>G commonName C>G TP53_g.12543C>G protEffect p.Ser185Arg TP53_g.13890A>T commonName A>T TP53_g.13890A>T protEffect p.Thr304Ser TP53_g.13775G>T commonName G>T TP53_g.13775G>T protEffect p.Leu265Leu TP53_g.12441_12442delinsT commonName CC>T TP53_g.14020C>A commonName C>A TP53_g.14020C>A protEffect p.Pro316Pro TP53_g.12452_12453delinsTG commonName CC>TG TP53_g.12452_12453delinsTG protEffect p.Thr155Met TP53_g.16916G>T commonName G>T TP53_g.16916G>T protEffect p.Arg342Leu TP53_g.13780_13781delinsAT commonName GG>AT TP53_g.13780_13781delinsAT protEffect p.Arg267His TP53_g.12488del commonName del1 TP53_g.11572_11585del commonName del14 TP53_g.12364_12377del commonName del14 TP53_g.13354_13355ins7 commonName ins7 TP53_g.12433_12445del commonName del13 TP53_g.11469del commonName del1 TP53_g.11550_11560del commonName del11 TP53_g.12714_12715ins2 commonName ins2 TP53_g.11516_11517ins1 commonName ins1 TP53_g.13314G>T commonName G>T TP53_g.13314G>T protEffect p.Gly226Val TP53_g.11433del commonName del1 TP53_g.12648del commonName del1 TP53_g.12635_12643del commonName del9 TP53_g.11546_11551del commonName del6 TP53_g.12501_12502ins1 commonName ins1 TP53_g.12492_12493ins2 commonName ins2 TP53_g.13390del commonName del1 TP53_g.11594_11600del commonName del7 TP53_g.11532del commonName del1 TP53_g.11593_11594del commonName del2 TP53_g.12650del commonName del1 TP53_g.11432_11433ins1 commonName ins1 TP53_g.11477G>A commonName G>A TP53_g.11477G>A protEffect p.Pro82Pro TP53_g.13814_13815ins15 commonName ins15 TP53_g.11448del commonName del1 TP53_g.11478del commonName del1 TP53_g.11549_11550ins3 commonName ins3 TP53_g.12672_12673ins15 commonName ins15 TP53_g.30004_30034del commonName del31 TP53_g.13773_13787del commonName del15 TP53_g.13872del commonName del1 TP53_g.12526_12527ins2 commonName ins2 TP53_g.13888_13889ins1 commonName ins1 TP53_g.13408_13409ins1 commonName ins1 TP53_g.12526_12527ins1 commonName ins1 TP53_g.13409_13410ins1 commonName ins1 TP53_g.13336del commonName del1 TP53_g.12397C>G commonName C>G TP53_g.12397C>G protEffect p.Leu137Val TP53_g.12673C>G commonName C>G TP53_g.12673C>G protEffect p.Arg202Gly TP53_g.13344_13345ins1 commonName ins1 TP53_g.13390_13393del commonName del4 TP53_g.11372G>A commonName G>A TP53_g.11372G>A protEffect p.Pro47Pro TP53_g.12714_12715ins1 commonName ins1 TP53_g.12439_12451del commonName del13 TP53_g.17908A>T commonName A>T TP53_g.13419G>A commonName G>A TP53_g.13419G>A protEffect p.Ser261Asn TP53_g.12457_12516del commonName del60 TP53_g.12527A>C commonName A>C TP53_g.12527A>C protEffect p.Glu180Ala TP53_g.12541A>C commonName A>C TP53_g.12541A>C protEffect p.Ser185Arg TP53_g.13886del commonName del1 TP53_g.12688del commonName del1 TP53_g.12695del commonName del1 TP53_g.13387_13388ins21 commonName ins21 TP53_g.12512_12513delinsAG commonName GC>AG TP53_g.12512_12513delinsAG protEffect p.Arg175Gln TP53_g.12416_12417delinsGT commonName TG>GT TP53_g.12416_12417delinsGT protEffect p.Val143Gly TP53_g.11425G>C commonName G>C TP53_g.11425G>C protEffect p.Arg65Thr TP53_g.11552_11553ins1 commonName ins1 TP53_g.12444_12445ins2 commonName ins2 TP53_g.13811T>G commonName T>G TP53_g.13811T>G protEffect p.Cys277Trp TP53_g.14010G>T commonName G>T TP53_g.14010G>T protEffect p.Ser313Ile TP53_g.14032G>T commonName G>T TP53_g.14032G>T protEffect p.Lys320Asn TP53_g.13354_13355ins1 commonName ins1 TP53_g.11348_11349ins1 commonName ins1 TP53_g.11390_11391ins1 commonName ins1 TP53_g.11555T>C commonName T>C TP53_g.11555T>C protEffect p.Gly108Gly TP53_g.13830_13831ins1 commonName ins1 TP53_g.11585_11586ins1 commonName ins1 TP53_g.14023_14024ins1 commonName ins1 TP53_g.12640_12653del commonName del14 TP53_g.14052A>C commonName A>C TP53_g.14052A>C protEffect p.Tyr327Ser TP53_g.11604_11638del commonName del35 TP53_g.13791_13799del commonName del9 TP53_g.11445del commonName del1 TP53_g.14020_14021ins50 commonName ins50 TP53_g.16885_16984del commonName del100 TP53_g.16885_17004del commonName del120 TP53_g.13369_13382del commonName del14 TP53_g.12390_12391ins1 commonName ins1 TP53_g.13827C>A commonName C>A TP53_g.13827C>A protEffect p.Arg283Ser TP53_g.13415_13416ins1 commonName ins1 TP53_g.11345del commonName del1 TP53_g.13353_13361del commonName del9 TP53_g.11340T>A commonName T>A TP53_g.11340T>A protEffect p.Ser37Thr TP53_g.11544G>T commonName G>T TP53_g.11544G>T protEffect p.Gly105Cys TP53_g.12454_12460del commonName del7 TP53_g.11385_11386ins4 commonName ins4 TP53_g.12433_13272del commonName del840 TP53_g.16965G>T commonName G>T TP53_g.16965G>T protEffect p.Glu358Asp TP53_g.13394_13395ins1 commonName ins1 TP53_g.11455C>T commonName C>T TP53_g.11455C>T protEffect p.Pro75Leu TP53_g.11494C>T commonName C>T TP53_g.11494C>T protEffect p.Ala88Val TP53_g.11431C>T commonName C>T TP53_g.11431C>T protEffect p.Pro67Leu TP53_g.11507C>T commonName C>T TP53_g.11507C>T protEffect p.Pro92Pro TP53_g.11597G>C commonName G>C TP53_g.11597G>C protEffect p.Val122Val TP53_g.13366_13367delinsAA commonName GG>AA TP53_g.13366_13367delinsAA protEffect M243I;G244S] TP53_g.12439_12507del commonName del69 TP53_g.13336C>G commonName C>G TP53_g.13336C>G protEffect p.His233Gln TP53_g.11553G>A commonName G>A TP53_g.11553G>A protEffect p.Gly108Ser TP53_g.12373_12735del commonName del363 TP53_g.13310_13630del commonName del321 TP53_g.12544_12545del commonName del2 TP53_g.11478_11479del commonName del2 TP53_g.12478_12611del commonName del134 TP53_g.13831_13834del commonName del4 TP53_g.12388T>G commonName T>G TP53_g.12388T>G protEffect p.Phe134Val TP53_g.12631C>T commonName C>T TP53_g.12631C>T protEffect p.Leu188Leu TP53_g.12559G>A commonName G>A TP53_g.13315C>G commonName C>G TP53_g.13315C>G protEffect p.Gly226Gly TP53_g.12759G>C commonName G>C TP53_g.13775G>A commonName G>A TP53_g.13775G>A protEffect p.Leu265Leu TP53_g.13891C>T commonName C>T TP53_g.13891C>T protEffect p.Thr304Ile TP53_g.13293C>T commonName C>T TP53_g.13845C>G commonName C>G TP53_g.13845C>G protEffect p.Leu289Val TP53_g.12437C>G commonName C>G TP53_g.12437C>G protEffect p.Thr150Arg TP53_g.12641_12643del commonName del3 TP53_g.13925delinsAT commonName G>AT TP53_g.12418C>A commonName C>A TP53_g.12418C>A protEffect p.Gln144Lys TP53_g.13856A>C commonName A>C TP53_g.13856A>C protEffect p.Lys292Asn TP53_g.13320_13321del commonName del2 TP53_g.12645_12646delinsCA commonName GC>CA TP53_g.12645_12646delinsCA protEffect Q192H;H193N] TP53_g.13420G>C commonName G>C TP53_g.12511_12529del commonName del19 TP53_g.12406_12427del commonName del22 TP53_g.13391_13401del commonName del11 TP53_g.11373del commonName del1 TP53_g.11499del commonName del1 TP53_g.12674_12675delinsCG commonName GT>CG TP53_g.12674_12675delinsCG protEffect p.Arg202Pro TP53_g.16922T>C commonName T>C TP53_g.16922T>C protEffect p.Leu344Pro TP53_g.11553_11558del commonName del6 TP53_g.11482_11483delinsTT commonName CC>TT TP53_g.11482_11483delinsTT protEffect p.Ala84Val TP53_g.13382_13405del commonName del24 TP53_g.13412del commonName del1 TP53_g.13301A>G commonName A>G TP53_g.12471_12472ins1 commonName ins1 TP53_g.13335A>G commonName A>G TP53_g.13335A>G protEffect p.His233Arg TP53_g.12703T>G commonName T>G TP53_g.12703T>G protEffect p.Phe212Val TP53_g.13313G>A commonName G>A TP53_g.13313G>A protEffect p.Gly226Ser TP53_g.13411A>G commonName A>G TP53_g.13411A>G protEffect p.Glu258Glu TP53_g.13392_13393ins1 commonName ins1 TP53_g.12440_12441ins1 commonName ins1 TP53_g.11474_11475ins1 commonName ins1 TP53_g.11374A>G commonName A>G TP53_g.11374A>G protEffect p.Asp48Gly TP53_g.13877_13878ins1 commonName ins1 TP53_g.12448_12449delinsAT commonName GG>AT TP53_g.12448_12449delinsAT protEffect p.Gly154Ile TP53_g.11499_11513del commonName del15 TP53_g.13394_13399del commonName del6 TP53_g.13769_13770ins51 commonName ins51 TP53_g.13791_13806del commonName del16 TP53_g.12522C>G commonName C>G TP53_g.12522C>G protEffect p.His178Gln TP53_g.12668A>T commonName A>T TP53_g.12668A>T protEffect p.Asn200Ile TP53_g.11385_11397del commonName del13 TP53_g.11441_11442ins1 commonName ins1 TP53_g.14022A>G commonName A>G TP53_g.14022A>G protEffect p.Gln317Arg TP53_g.12511_12516del commonName del6 TP53_g.12646_12654del commonName del9 TP53_g.12772A>G commonName A>G TP53_g.14076T>C commonName T>C TP53_g.13396_13404del commonName del9 TP53_g.11071A>G commonName A>G TP53_g.11071A>G protEffect p.Leu22Leu TP53_g.12461_12462delinsAA commonName GC>AA TP53_g.12461_12462delinsAA protEffect p.Arg158Gln TP53_g.13345_13346delinsAT commonName CA>AT TP53_g.13345_13346delinsAT protEffect Y236X TP53_g.12547_12552del commonName del6 TP53_g.16981G>C commonName G>C TP53_g.16981G>C protEffect p.Ala364Pro TP53_g.11403C>A commonName C>A TP53_g.11403C>A protEffect p.Pro58Thr TP53_g.11555_11556ins1 commonName ins1 TP53_g.12670_12671delinsCC commonName TT>CC TP53_g.12670_12671delinsCC protEffect p.Leu201Pro TP53_g.12376_12412del commonName del37 TP53_g.12505_12520del commonName del16 TP53_g.12396_12397ins1 commonName ins1 TP53_g.13437A>T commonName A>T TP53_g.14050_14051ins1 commonName ins1 TP53_g.16914del commonName del1 TP53_g.11561_11562ins1 commonName ins1 TP53_g.12517C>G commonName C>G TP53_g.12517C>G protEffect p.Pro177Ala TP53_g.13833_13834ins1 commonName ins1 TP53_g.12653_12654ins1 commonName ins1 TP53_g.13351_13352ins8 commonName ins8 TP53_g.12681_12682ins1 commonName ins1 TP53_g.11206_11207ins1 commonName ins1 TP53_g.12655_12676del commonName del22 TP53_g.12658_12663del commonName del6 TP53_g.13402_13403ins12 commonName ins12 TP53_g.13763_13786del commonName del24 TP53_g.14066G>C commonName G>C TP53_g.11495_11496ins11 commonName ins11 TP53_g.12406_12415del commonName del10 TP53_g.11298C>A commonName C>A TP53_g.11509del commonName del1 TP53_g.13797_13798delinsTA commonName CG>TA TP53_g.13797_13798delinsTA protEffect p.Arg273Tyr TP53_g.11407G>A commonName G>A TP53_g.11407G>A protEffect p.Gly59Asp TP53_g.11568T>C commonName T>C TP53_g.11568T>C protEffect p.Phe113Leu TP53_g.11436G>A commonName G>A TP53_g.11436G>A protEffect p.Ala69Thr TP53_g.14051T>C commonName T>C TP53_g.14051T>C protEffect p.Tyr327His TP53_g.13788_13823del commonName del36 TP53_g.30014_30015ins1 commonName ins1 TP53_g.12635C>A commonName C>A TP53_g.12635C>A protEffect p.Ala189Asp TP53_g.12688G>A commonName G>A TP53_g.12688G>A protEffect p.Asp207Asn TP53_g.14056_14057ins14 commonName ins14 TP53_g.12721_12732del commonName del12 TP53_g.13761A>G commonName A>G TP53_g.12639_12640ins1 commonName ins1 TP53_g.13899_13992del commonName del94 TP53_g.12382_12383delinsTT commonName AA>TT TP53_g.12382_12383delinsTT protEffect p.Lys132Leu TP53_g.12385A>T commonName A>T TP53_g.12385A>T protEffect p.Met133Leu TP53_g.12368C>G commonName C>G TP53_g.12368C>G protEffect p.Ser127Cys TP53_g.13797_13798ins1 commonName ins1 TP53_g.13410A>C commonName A>C TP53_g.13410A>C protEffect p.Glu258Ala TP53_g.12457_12458ins6 commonName ins6 TP53_g.12544G>C commonName G>C TP53_g.12544G>C protEffect p.Asp186His TP53_g.12494_12495ins1 commonName ins1 TP53_g.13876T>G commonName T>G TP53_g.13876T>G protEffect p.Leu299Arg TP53_g.13863_13864ins2 commonName ins2 TP53_g.13334_13335ins1 commonName ins1 TP53_g.11209_11210delinsGG commonName CA>GG TP53_g.11209_11210delinsGG protEffect N29K;N30D] TP53_g.12663_12664ins63 commonName ins63 TP53_g.13845_13854del commonName del10 TP53_g.14021_14039del commonName del19 TP53_g.12649_12650del commonName del2 TP53_g.13394_13413del commonName del20 TP53_g.11391del commonName del1 TP53_g.11361del commonName del1 TP53_g.11558_11559ins6 commonName ins6 TP53_g.12408_12409ins2 commonName ins2 TP53_g.30006_30053del commonName del48 TP53_g.13766T>C commonName T>C TP53_g.13766T>C protEffect p.Gly262Gly TP53_g.12462_12463ins6 commonName ins6 TP53_g.30016_30042del commonName del27 TP53_g.13367_13369del commonName del3 TP53_g.17913del commonName del1 TP53_g.12516C>T commonName C>T TP53_g.12516C>T protEffect p.Cys176Cys TP53_g.13417del commonName del1 TP53_g.12723_12724ins3 commonName ins3 TP53_g.12702_12703ins36 commonName ins36 TP53_g.13771T>G commonName T>G TP53_g.13771T>G protEffect p.Leu264Arg TP53_g.12394_12395ins2 commonName ins2 TP53_g.13408_13456del commonName del49 TP53_g.13847_13848ins5 commonName ins5 TP53_g.13786_13787ins1 commonName ins1 TP53_g.12765T>A commonName T>A TP53_g.12438del commonName del1 TP53_g.12670T>C commonName T>C TP53_g.12670T>C protEffect p.Leu201Leu TP53_g.30014_30015del commonName del2 TP53_g.11197_11218del commonName del22 TP53_g.30018_30019ins74 commonName ins74 TP53_g.11367_11384del commonName del18 TP53_g.11550T>G commonName T>G TP53_g.11550T>G protEffect p.Tyr107Asp TP53_g.13319_13322del commonName del4 TP53_g.13355_13356ins1 commonName ins1 TP53_g.12652_12670del commonName del19 TP53_g.13870A>G commonName A>G TP53_g.13870A>G protEffect p.His297Arg TP53_g.11507_11508ins1 commonName ins1 TP53_g.13798del commonName del1 TP53_g.12379del commonName del1 TP53_g.13327C>T commonName C>T TP53_g.13327C>T protEffect p.Thr230Thr TP53_g.12615del commonName del1 TP53_g.11406G>T commonName G>T TP53_g.11406G>T protEffect p.Gly59Cys TP53_g.16902_16903ins1 commonName ins1 TP53_g.13331_13338del commonName del8 TP53_g.11906_11927del commonName del exon3 TP53_g.11467_11691del commonName del225 TP53_g.12509_12526del commonName del18 TP53_g.11428T>G commonName T>G TP53_g.11428T>G protEffect p.Met66Arg TP53_g.17935T>G commonName T>G TP53_g.17935T>G protEffect p.Ser376Ala TP53_g.11327_11345del commonName del19 TP53_g.14054_14055ins1 commonName ins1 TP53_g.12671T>C commonName T>C TP53_g.12671T>C protEffect p.Leu201Ser TP53_g.12543C>A commonName C>A TP53_g.12543C>A protEffect p.Ser185Arg TP53_g.16928A>C commonName A>C TP53_g.16928A>C protEffect p.Glu346Ala TP53_g.11041_11392del commonName del352 TP53_g.13991_14009del commonName del19 TP53_g.12644_12645ins24 commonName ins24 TP53_g.12729del commonName del1 TP53_g.12398_12399ins3 commonName ins3 TP53_g.11467C>T commonName C>T TP53_g.11467C>T protEffect p.Ala79Val TP53_g.11548_11605del commonName del58 TP53_g.17935T>A commonName T>A TP53_g.17935T>A protEffect p.Ser376Thr TP53_g.13407_13418del commonName del12 TP53_g.11020G>T commonName G>T TP53_g.11020G>T protEffect p.Gln5His TP53_g.11582_11592del commonName del11 TP53_g.12634_12660del commonName del27 TP53_g.14044T>A commonName T>A TP53_g.14044T>A protEffect p.Asp324Glu TP53_g.12421_12427del commonName del7 TP53_g.12634G>T commonName G>T TP53_g.12634G>T protEffect p.Ala189Ser TP53_g.12425_12426delinsA commonName GG>A TP53_g.11560G>A commonName G>A TP53_g.11560G>A protEffect p.Arg110His TP53_g.11495C>T commonName C>T TP53_g.11495C>T protEffect p.Ala88Ala TP53_g.12717G>T commonName G>T TP53_g.12717G>T protEffect p.Val216Val TP53_g.12502_12518del commonName del17 TP53_g.13838A>T commonName A>T TP53_g.13838A>T protEffect p.Glu286Asp TP53_g.13778_13779ins1 commonName ins1 TP53_g.13847del commonName del1 TP53_g.14023del commonName del1 TP53_g.11492_11517del commonName del26 TP53_g.12681_12682ins7 commonName ins7 TP53_g.13375del commonName del1 TP53_g.12462C>G commonName C>G TP53_g.12462C>G protEffect p.Arg158Arg TP53_g.12507G>C commonName G>C TP53_g.12507G>C protEffect p.Val173Val TP53_g.12738T>A commonName T>A TP53_g.12738T>A protEffect p.Pro223Pro TP53_g.12738_12739ins1 commonName ins1 TP53_g.12418_12420delinsAAA commonName CAG>AAA TP53_g.12418_12420delinsAAA protEffect p.Gln144Lys TP53_g.13840A>C commonName A>C TP53_g.13840A>C protEffect p.Glu287Ala TP53_g.12463_12464delinsAG commonName GC>AG TP53_g.12463_12464delinsAG protEffect p.Ala159Ser TP53_g.12539A>T commonName A>T TP53_g.12539A>T protEffect p.Asp184Val TP53_g.12400_12416del commonName del17 TP53_g.12368_12375del commonName del8 TP53_g.11334del commonName del1 TP53_g.17021A>T commonName A>T TP53_g.12696A>T commonName A>T TP53_g.12696A>T protEffect p.Arg209Ser TP53_g.12688G>T commonName G>T TP53_g.12688G>T protEffect p.Asp207Tyr TP53_g.11505del commonName del1 TP53_g.13775G>C commonName G>C TP53_g.13775G>C protEffect p.Leu265Leu TP53_g.12409_12411delinsGCG commonName TGC>GCG TP53_g.12409_12411delinsGCG protEffect C141A TP53_g.11448G>C commonName G>C TP53_g.11448G>C protEffect p.Val73Leu TP53_g.12468_12469ins1 commonName ins1 TP53_g.16948G>A commonName G>A TP53_g.16948G>A protEffect p.Ala353Thr TP53_g.13782_13783delinsTT commonName AA>TT TP53_g.13782_13783delinsTT protEffect p.Asn268Phe TP53_g.16957del commonName del1 TP53_g.12542_12543delinsCG commonName GC>CG TP53_g.12542_12543delinsCG protEffect p.Ser185Thr TP53_g.13854A>G commonName A>G TP53_g.13854A>G protEffect p.Lys292Glu TP53_g.11441T>G commonName T>G TP53_g.11441T>G protEffect p.Ala70Ala TP53_g.12444del commonName del1 TP53_g.13348_13349ins1 commonName ins1 TP53_g.12423_12426del commonName del4 TP53_g.13305C>G commonName C>G TP53_g.12530del commonName del1 TP53_g.12463_12489del commonName del27 TP53_g.12468_12469ins2 commonName ins2 TP53_g.12547_12551del commonName del5 TP53_g.13862G>T commonName G>T TP53_g.13862G>T protEffect p.Glu294Asp TP53_g.16987T>G commonName T>G TP53_g.16987T>G protEffect p.Ser366Ala TP53_g.16930G>A commonName G>A TP53_g.16930G>A protEffect p.Ala347Thr TP53_g.11203_11209delinsAG commonName TGAAAAC>AG TP53_g.14005_14006ins1 commonName ins1 TP53_g.13779C>A commonName C>A TP53_g.13779C>A protEffect p.Arg267Arg TP53_g.14039C>A commonName C>A TP53_g.14039C>A protEffect p.Leu323Met TP53_g.12716_12725del commonName del10 TP53_g.13359_13360del commonName del2 TP53_g.13788_13797del commonName del10 TP53_g.11410C>A commonName C>A TP53_g.11410C>A protEffect p.Pro60Gln TP53_g.12650_12678del commonName del29 TP53_g.12486A>G commonName A>G TP53_g.12486A>G protEffect p.Ser166Ser TP53_g.13797_13799delinsTCG commonName CGT>TCG TP53_g.13797_13799delinsTCG protEffect R273S TP53_g.12700A>C commonName A>C TP53_g.12700A>C protEffect p.Thr211Pro TP53_g.13341_13342delinsTG commonName AC>TG TP53_g.13341_13342delinsTG protEffect p.Asn235Met TP53_g.13402C>A commonName C>A TP53_g.13402C>A protEffect p.Ile255Ile TP53_g.12531_12532ins1 commonName ins1 TP53_g.11442_11447del commonName del6 TP53_g.14064A>G commonName A>G TP53_g.14064A>G protEffect p.Gln331Arg TP53_g.13824_13826del commonName del3 TP53_g.12452_12453ins1 commonName ins1 TP53_g.13345_13346ins1 commonName ins1 TP53_g.13327_13328ins1 commonName ins1 TP53_g.12632T>C commonName T>C TP53_g.12632T>C protEffect p.Leu188Pro TP53_g.13373_13396del commonName del24 TP53_g.12486_12487ins3 commonName ins3 TP53_g.13342del commonName del1 TP53_g.13993A>T commonName A>T TP53_g.13993A>T protEffect p.Ala307Ala TP53_g.12370_12372del commonName del3 TP53_g.12391_12396del commonName del6 TP53_g.12429T>A commonName T>A TP53_g.12429T>A protEffect p.Val147Val TP53_g.12512_12523del commonName del12 TP53_g.12669T>C commonName T>C TP53_g.12669T>C protEffect p.Asn200Asn TP53_g.12413C>G commonName C>G TP53_g.12413C>G protEffect p.Pro142Arg TP53_g.12480del commonName del1 TP53_g.12683_12687del commonName del5 TP53_g.12380_12384del commonName del5 TP53_g.13329del commonName del1 TP53_g.13895G>A commonName G>A TP53_g.13895G>A protEffect p.Lys305Lys TP53_g.13784C>A commonName C>A TP53_g.13784C>A protEffect p.Asn268Lys TP53_g.13291G>A commonName G>A TP53_g.13892T>C commonName T>C TP53_g.13892T>C protEffect p.Thr304Thr TP53_g.12714_12738del commonName del25 TP53_g.11477_11478ins76 commonName ins76 TP53_g.12517_12520del commonName del4 TP53_g.13430A>T commonName A>T TP53_g.11454del commonName del1 TP53_g.12356_12357ins1 commonName ins1 TP53_g.13815_13824del commonName del10 TP53_g.13998C>G commonName C>G TP53_g.13998C>G protEffect p.Pro309Arg TP53_g.13318T>C commonName T>C TP53_g.13318T>C protEffect p.Ser227Ser TP53_g.14028A>G commonName A>G TP53_g.14028A>G protEffect p.Lys319Arg TP53_g.13833_13855del commonName del23 TP53_g.12380A>C commonName A>C TP53_g.12380A>C protEffect p.Asn131Thr TP53_g.14008C>T commonName C>T TP53_g.14008C>T protEffect p.Thr312Thr TP53_g.13835G>T commonName G>T TP53_g.13835G>T protEffect p.Glu285Asp TP53_g.11376G>A commonName G>A TP53_g.11376G>A protEffect p.Asp49Asn TP53_g.12423_12449del commonName del27 TP53_g.12474_12481del commonName del8 TP53_g.12442_12447del commonName del6 TP53_g.11475C>T commonName C>T TP53_g.11475C>T protEffect p.Pro82Ser TP53_g.13803_13820del commonName del18 TP53_g.12471del commonName del1 TP53_g.12382_12383del commonName del2 TP53_g.12438_12452del commonName del15 TP53_g.12668del commonName del1 TP53_g.12746G>A commonName G>A TP53_g.11545G>A commonName G>A TP53_g.11545G>A protEffect p.Gly105Asp TP53_g.11432_11444del commonName del13 TP53_g.12441_12447del commonName del7 TP53_g.12718_12728del commonName del11 TP53_g.12736_12737del commonName del2 TP53_g.12538_12541del commonName del4 TP53_g.12450_12455del commonName del6 TP53_g.12450_12455del protEffect T155_R156del TP53_g.13806_13820del commonName del15 TP53_g.11364_11365del commonName del2 TP53_g.12373_12381del commonName del9 TP53_g.12407_12408delinsTT commonName CC>TT TP53_g.12407_12408delinsTT protEffect p.Thr140Ile TP53_g.12445_12446delinsTT commonName CC>TT TP53_g.12445_12446delinsTT protEffect p.Pro153Phe TP53_g.13764_13790del commonName del27 TP53_g.12628_12629delinsAA commonName GG>AA TP53_g.12542del commonName del1 TP53_g.12713del commonName del1 TP53_g.13770C>G commonName C>G TP53_g.13770C>G protEffect p.Leu264Val TP53_g.12703T>A commonName T>A TP53_g.12703T>A protEffect p.Phe212Ile TP53_g.12649_12650ins1 commonName ins1 TP53_g.13781G>T commonName G>T TP53_g.13781G>T protEffect p.Arg267Arg TP53_g.12698A>C commonName A>C TP53_g.12698A>C protEffect p.Asn210Thr TP53_g.13862_13863ins1 commonName ins1 TP53_g.12605T>G commonName T>G TP53_g.13999C>A commonName C>A TP53_g.13999C>A protEffect p.Pro309Pro TP53_g.12369C>G commonName C>G TP53_g.12369C>G protEffect p.Ser127Ser TP53_g.12456C>T commonName C>T TP53_g.12456C>T protEffect p.Arg156Arg TP53_g.12701C>G commonName C>G TP53_g.12701C>G protEffect p.Thr211Ser TP53_g.12736C>A commonName C>A TP53_g.12736C>A protEffect p.Pro223Thr TP53_g.12411_12413del commonName del3 TP53_g.11589A>G commonName A>G TP53_g.11589A>G protEffect p.Lys120Glu TP53_g.13334_13358del commonName del25 TP53_g.11478_11493del commonName del16 TP53_g.11437C>T commonName C>T TP53_g.11437C>T protEffect p.Ala69Val TP53_g.11515C>T commonName C>T TP53_g.11515C>T protEffect p.Ser95Phe TP53_g.14040T>C commonName T>C TP53_g.14040T>C protEffect p.Leu323Pro TP53_g.13310del commonName del1 TP53_g.16990del commonName del1 TP53_g.14013C>T commonName C>T TP53_g.14013C>T protEffect p.Ser314Phe TP53_g.12478_12479ins1 commonName ins1 TP53_g.12453C>A commonName C>A TP53_g.12453C>A protEffect p.Thr155Thr TP53_g.12474_12475ins1 commonName ins1 TP53_g.13793G>T commonName G>T TP53_g.13793G>T protEffect p.Glu271Asp TP53_g.13763_13764ins3 commonName ins3 TP53_g.12393_12394ins18 commonName ins18 TP53_g.12502_12510del commonName del9 TP53_g.12412_12420del commonName del9 TP53_g.13414_13419del commonName del6 TP53_g.12691_12692delinsAT commonName GA>AT TP53_g.12691_12692delinsAT protEffect p.Asp208Ile TP53_g.14061del commonName del1 TP53_g.11601_11602ins1 commonName ins1 TP53_g.11602G>C commonName G>C TP53_g.11602G>C protEffect p.Cys124Ser TP53_g.13853del commonName del1 TP53_g.11526T>C commonName T>C TP53_g.11526T>C protEffect p.Ser99Pro TP53_g.16904del commonName del1 TP53_g.13324_13325ins3 commonName ins3 TP53_g.12351C>T commonName C>T TP53_g.11487_11499del commonName del13 TP53_g.12652A>C commonName A>C TP53_g.12652A>C protEffect p.Ile195Leu TP53_g.12444G>T commonName G>T TP53_g.12444G>T protEffect p.Pro152Pro TP53_g.12543C>T commonName C>T TP53_g.12543C>T protEffect p.Ser185Ser TP53_g.12453del commonName del1 TP53_g.12476A>T commonName A>T TP53_g.12476A>T protEffect p.Tyr163Phe TP53_g.12519C>A commonName C>A TP53_g.12519C>A protEffect p.Pro177Pro TP53_g.12658_12659ins1 commonName ins1 TP53_g.13362_13373del commonName del12 TP53_g.13995_14035del commonName del41 TP53_g.12702T>A commonName T>A TP53_g.12702T>A protEffect p.Thr211Thr TP53_g.11544G>A commonName G>A TP53_g.11544G>A protEffect p.Gly105Ser TP53_g.12461_12462ins3 commonName ins3 TP53_g.12539_12542del commonName del4 TP53_g.12629_12630ins1 commonName ins1 TP53_g.12704_12705del commonName del2 TP53_g.12738T>G commonName T>G TP53_g.12738T>G protEffect p.Pro223Pro TP53_g.13360C>G commonName C>G TP53_g.13360C>G protEffect p.Ser241Ser TP53_g.13341_13342ins3 commonName ins3 TP53_g.13804del commonName del1 TP53_g.13806_13829del commonName del24 TP53_g.13881_13882ins1 commonName ins1 TP53_g.12668A>C commonName A>C TP53_g.12668A>C protEffect p.Asn200Thr TP53_g.13461C>T commonName C>T TP53_g.12490_12491ins1 commonName ins1 TP53_g.12572G>A commonName G>A TP53_g.13321del commonName del1 TP53_g.13787C>A commonName C>A TP53_g.13787C>A protEffect p.Ser269Arg TP53_g.13443C>G commonName C>G TP53_g.13757G>A commonName G>A TP53_g.12637_12661del commonName del25 TP53_g.12696_12697ins4 commonName ins4 TP53_g.14055T>C commonName T>C TP53_g.14055T>C protEffect p.Phe328Ser TP53_g.13309_13310ins5 commonName ins5 TP53_g.13310_13311ins69 commonName ins69 TP53_g.16884_16885ins133 commonName ins133 TP53_g.11484_11485del commonName del2 TP53_g.12389_12406del commonName del18 TP53_g.13310_13356del commonName del47 TP53_g.13881_13889del commonName del9 TP53_g.13871_13872ins17 commonName ins17 TP53_g.12528G>T commonName G>T TP53_g.12528G>T protEffect p.Glu180Asp TP53_g.11570_11572del commonName del3 TP53_g.11439G>A commonName G>A TP53_g.11439G>A protEffect p.Ala70Thr TP53_g.12515_12516delinsTT commonName GC>TT TP53_g.12515_12516delinsTT protEffect p.Cys176Phe TP53_g.12377_12413del commonName del37 TP53_g.11033G>A commonName G>A TP53_g.11033G>A protEffect p.Val10Ile TP53_g.11550_11552delinsCAA commonName TAC>CAA TP53_g.11550_11552delinsCAA protEffect Y107H TP53_g.11604A>C commonName A>C TP53_g.11604A>C protEffect p.Thr125Pro TP53_g.11593del commonName del1 TP53_g.12628del commonName del1 TP53_g.12668_12669ins1 commonName ins1 TP53_g.16921_16933del commonName del13 TP53_g.12390T>C commonName T>C TP53_g.12390T>C protEffect p.Phe134Phe TP53_g.12733C>G commonName C>G TP53_g.12733C>G protEffect p.Pro222Ala TP53_g.14056C>T commonName C>T TP53_g.14056C>T protEffect p.Phe328Phe TP53_g.13864C>A commonName C>A TP53_g.13864C>A protEffect p.Pro295His TP53_g.12737C>G commonName C>G TP53_g.12737C>G protEffect p.Pro223Arg TP53_g.13342C>T commonName C>T TP53_g.13342C>T protEffect p.Asn235Asn TP53_g.12715_12719del commonName del5 TP53_g.11505C>G commonName C>G TP53_g.11505C>G protEffect p.Pro92Ala TP53_g.14061T>C commonName T>C TP53_g.14061T>C protEffect p.Leu330Pro TP53_g.12424T>A commonName T>A TP53_g.12424T>A protEffect p.Trp146Arg TP53_g.11587C>A commonName C>A TP53_g.11587C>A protEffect p.Ala119Asp TP53_g.12468_12469delinsAA commonName GG>AA TP53_g.12468_12469delinsAA protEffect M160I;A161T] TP53_g.13342_13343delinsTG commonName CT>TG TP53_g.13342_13343delinsTG protEffect Y236D TP53_g.13401_13402delinsAT commonName TC>AT TP53_g.13401_13402delinsAT protEffect p.Ile255Asn TP53_g.11448G>A commonName G>A TP53_g.11448G>A protEffect p.Val73Met TP53_g.12453_12472del commonName del20 TP53_g.11562C>A commonName C>A TP53_g.11562C>A protEffect p.Leu111Met TP53_g.12551A>C commonName A>C TP53_g.12359_12360del commonName del2 TP53_g.12399_12413del commonName del15 TP53_g.12625T>A commonName T>A TP53_g.17908A>C commonName A>C TP53_g.12678_12679delinsTT commonName GG>TT TP53_g.12678_12679delinsTT protEffect E204X TP53_g.11498del commonName del1 TP53_g.12527del commonName del1 TP53_g.17974G>T commonName G>T TP53_g.17974G>T protEffect p.Gly389Trp TP53_g.13763_14162del commonName del400 TP53_g.14035_14036ins2 commonName ins2 TP53_g.12360_12372del commonName del13 TP53_g.12402del commonName del1 TP53_g.12390_12391del commonName del2 TP53_g.13814_13815delinsA commonName TG>A TP53_g.12632_12643del commonName del12 TP53_g.13992_13998del commonName del7 TP53_g.11553_11555del commonName del3 TP53_g.11451_11457del commonName del7 TP53_g.13333_13343del commonName del11 TP53_g.11006_12187del commonName del1182 TP53_g.11456_11457ins1 commonName ins1 TP53_g.11335_11336ins1 commonName ins1 TP53_g.12641del commonName del1 TP53_g.16974del commonName del1 TP53_g.13420_13556del commonName del137 TP53_g.12394_12395ins1 commonName ins1 TP53_g.11385_11386ins3 commonName ins3 TP53_g.11591G>T commonName G>T TP53_g.11591G>T protEffect p.Lys120Asn TP53_g.13388_13389ins1 commonName ins1 TP53_g.11565_11597del commonName del33 TP53_g.11565_11597del protEffect G112_V122del TP53_g.13334_13336del commonName del3 TP53_g.12712_12714del commonName del3 TP53_g.12517C>A commonName C>A TP53_g.12517C>A protEffect p.Pro177Thr TP53_g.16884G>C commonName G>C TP53_g.14025_14043del commonName del19 TP53_g.11052A>T commonName A>T TP53_g.11052A>T protEffect p.Gln16Leu TP53_g.13363del commonName del1 TP53_g.14001_14002ins1 commonName ins1 TP53_g.11589A>T commonName A>T TP53_g.11589A>T protEffect p.Lys120STOP TP53_g.13829_13830del commonName del2 TP53_g.17955del commonName del1 TP53_g.12513_12514ins4 commonName ins4 TP53_g.13318del commonName del1 TP53_g.12426_12434del commonName del9 TP53_g.14067T>G commonName T>G TP53_g.14014del commonName del1 TP53_g.11590del commonName del1 TP53_g.13419G>C commonName G>C TP53_g.13419G>C protEffect p.Ser261Thr TP53_g.11333del commonName del1 TP53_g.13859_13860delinsCT commonName GG>CT TP53_g.13859_13860delinsCT protEffect E294X TP53_g.11376G>T commonName G>T TP53_g.11376G>T protEffect p.Asp49Tyr TP53_g.12739_12740ins5 commonName ins5 TP53_g.13790del commonName del1 TP53_g.12682_12684del commonName del3 TP53_g.30003_30302del commonName del300 TP53_g.12463_12464delinsTT commonName GC>TT TP53_g.12463_12464delinsTT protEffect p.Ala159Phe TP53_g.11603C>A commonName C>A TP53_g.11603C>A protEffect p.Cys124STOP TP53_g.11080G>A commonName G>A TP53_g.11081T>C commonName T>C TP53_g.13795_13796del commonName del2 TP53_g.13349_13362del commonName del14 TP53_g.11326A>G commonName A>G TP53_g.11352_11356del commonName del5 TP53_g.14057_14078del commonName del22 TP53_g.16906_16910del commonName del5 TP53_g.12497del commonName del1 TP53_g.16888del commonName del1 TP53_g.12478_12492del commonName del15 TP53_g.16884G>A commonName G>A TP53_g.11477_11478ins8 commonName ins8 TP53_g.11558_11559ins4 commonName ins4 TP53_g.11465_11466delinsGA commonName AG>GA TP53_g.11465_11466delinsGA protEffect A79T TP53_g.13784del commonName del1 TP53_g.12649_12651del commonName del3 TP53_g.13848_13849ins1 commonName ins1 TP53_g.12485_12486ins10 commonName ins10 TP53_g.13422C>T commonName C>T TP53_g.13341_13346del commonName del6 TP53_g.13382_13384del commonName del3 TP53_g.13405del commonName del1 TP53_g.14015T>C commonName T>C TP53_g.14015T>C protEffect p.Ser315Pro TP53_g.13335_13336del commonName del2 TP53_g.14059C>T commonName C>T TP53_g.14059C>T protEffect p.Thr329Thr TP53_g.12354C>T commonName C>T TP53_g.11445C>T commonName C>T TP53_g.11445C>T protEffect p.Pro/Arg72Cys TP53_g.13414del commonName del1 TP53_g.11460del commonName del1 TP53_g.14065G>A commonName G>A TP53_g.14065G>A protEffect p.Gln331Gln TP53_g.12454_12455ins1 commonName ins1 TP53_g.12367_12396del commonName del30 TP53_g.13412_13413delinsAG commonName GA>AG TP53_g.13412_13413delinsAG protEffect p.Asp259Ser TP53_g.12641_12642ins2 commonName ins2 TP53_g.12681G>C commonName G>C TP53_g.12681G>C protEffect p.Glu204Asp TP53_g.13994C>G commonName C>G TP53_g.13994C>G protEffect p.Leu308Val TP53_g.14039C>G commonName C>G TP53_g.14039C>G protEffect p.Leu323Val TP53_g.12417_12418del commonName del2 TP53_g.14005C>G commonName C>G TP53_g.14005C>G protEffect p.Asn311Lys TP53_g.14017T>G commonName T>G TP53_g.14017T>G protEffect p.Ser315Ser TP53_g.12639_12641del commonName del3 TP53_g.13820_13825del commonName del6 TP53_g.12672_12673ins4 commonName ins4 TP53_g.17985_17988del commonName del4 TP53_g.12614A>T commonName A>T TP53_g.14042G>T commonName G>T TP53_g.14042G>T protEffect p.Asp324Tyr TP53_g.12480_12481delinsTT commonName GC>TT TP53_g.12480_12481delinsTT protEffect K164N;Q165X] TP53_g.12464_12466del commonName del3 TP53_g.14031_14038del commonName del8 TP53_g.14026_14029del commonName del4 TP53_g.12655C>G commonName C>G TP53_g.12655C>G protEffect p.Arg196Gly TP53_g.13994C>T commonName C>T TP53_g.13994C>T protEffect p.Leu308Leu TP53_g.13830del commonName del1 TP53_g.13875C>T commonName C>T TP53_g.13875C>T protEffect p.Leu299Leu TP53_g.13920G>A commonName G>A TP53_g.12578G>A commonName G>A TP53_g.13316T>C commonName T>C TP53_g.13316T>C protEffect p.Ser227Pro TP53_g.13407del commonName del1 TP53_g.13820_13821ins4 commonName ins4 TP53_g.12740_12741ins1 commonName ins1 TP53_g.13418_13423del commonName del6 TP53_g.12679G>C commonName G>C TP53_g.12679G>C protEffect p.Glu204Gln TP53_g.11535_11537del commonName del3 TP53_g.11559_11561del commonName del3 TP53_g.13299T>C commonName T>C TP53_g.13763T>A commonName T>A TP53_g.13763T>A protEffect p.Ser261Arg TP53_g.11375C>T commonName C>T TP53_g.11375C>T protEffect p.Asp48Asp TP53_g.13409_13411del commonName del3 TP53_g.16941del commonName del1 TP53_g.13859_13860del commonName del2 TP53_g.13335del commonName del1 TP53_g.11384A>G commonName A>G TP53_g.11384A>G protEffect p.Glu51Glu TP53_g.11387A>T commonName A>T TP53_g.11387A>T protEffect p.Gln52His TP53_g.11393C>A commonName C>A TP53_g.11393C>A protEffect p.Phe54Leu TP53_g.11432A>G commonName A>G TP53_g.11432A>G protEffect p.Pro67Pro TP53_g.11520G>A commonName G>A TP53_g.11520G>A protEffect p.Val97Ile TP53_g.11531_11532ins1 commonName ins1 TP53_g.13767_13769delinsTAG commonName AAT>TAG TP53_g.13767_13769delinsTAG protEffect N263X TP53_g.13456T>A commonName T>A TP53_g.12714_12715ins3 commonName ins3 TP53_g.12499_12525del commonName del27 TP53_g.12657A>C commonName A>C TP53_g.12657A>C protEffect p.Arg196Arg TP53_g.12501_12527del commonName del27 TP53_g.12454_12474del commonName del21 TP53_g.30019del commonName del1 TP53_g.11219G>A commonName G>A TP53_g.13823_13824delinsAT commonName CC>AT TP53_g.13823_13824delinsAT protEffect D281E;R282W] TP53_g.14001A>T commonName A>T TP53_g.14001A>T protEffect p.Asn310Ile TP53_g.14004A>G commonName A>G TP53_g.14004A>G protEffect p.Asn311Ser TP53_g.14004A>C commonName A>C TP53_g.14004A>C protEffect p.Asn311Thr TP53_g.14023G>T commonName G>T TP53_g.14023G>T protEffect p.Gln317His TP53_g.30015_30030del commonName del16 TP53_g.30014_30019del commonName del6 TP53_g.14064_14065ins1 commonName ins1 TP53_g.11367T>C commonName T>C TP53_g.11367T>C protEffect p.Ser46Pro TP53_g.12446C>G commonName C>G TP53_g.12446C>G protEffect p.Pro153Arg TP53_g.11609C>T commonName C>T TP53_g.11625C>T commonName C>T TP53_g.12468_12469delinsCC commonName GG>CC TP53_g.12468_12469delinsCC protEffect M160I;A161P] TP53_g.11527C>T commonName C>T TP53_g.11527C>T protEffect p.Ser99Phe TP53_g.11534A>G commonName A>G TP53_g.11534A>G protEffect p.Lys101Lys TP53_g.11568T>A commonName T>A TP53_g.11568T>A protEffect p.Phe113Ile TP53_g.12726_12737del commonName del12 TP53_g.12758G>A commonName G>A TP53_g.12477del commonName del1 TP53_g.12375_12386del commonName del12 TP53_g.12681G>T commonName G>T TP53_g.12681G>T protEffect p.Glu204Asp TP53_g.12700A>T commonName A>T TP53_g.12700A>T protEffect p.Thr211Ser TP53_g.13368_13369ins1 commonName ins1 TP53_g.13370_13371ins1 commonName ins1 TP53_g.13377_13378ins1 commonName ins1 TP53_g.13391C>A commonName C>A TP53_g.13391C>A protEffect p.Leu252Ile TP53_g.13814T>A commonName T>A TP53_g.13814T>A protEffect p.Pro278Pro TP53_g.12502_12503ins7 commonName ins7 TP53_g.13769_13781del commonName del13 TP53_g.12422_12423ins2 commonName ins2 TP53_g.13267_13277delinscccagagccca commonName ccaaggcgcac>cccagagccca TP53_g.12431A>G commonName A>G TP53_g.12431A>G protEffect p.Asp148Gly TP53_g.12662A>T commonName A>T TP53_g.12662A>T protEffect p.Glu198Val TP53_g.13413A>C commonName A>C TP53_g.13413A>C protEffect p.Asp259Ala TP53_g.12427G>T commonName G>T TP53_g.12427G>T protEffect p.Val147Phe TP53_g.12655_12656ins1 commonName ins1 TP53_g.13402_13404del commonName del3 TP53_g.13396del commonName del1 TP53_g.13401del commonName del1 TP53_g.12674_12675ins1 commonName ins1 TP53_g.12709_12710ins1 commonName ins1 TP53_g.12648T>G commonName T>G TP53_g.12648T>G protEffect p.His193Gln TP53_g.12687_12688del commonName del2 TP53_g.14009A>C commonName A>C TP53_g.14009A>C protEffect p.Ser313Arg TP53_g.11505C>T commonName C>T TP53_g.11505C>T protEffect p.Pro92Ser TP53_g.17984_17985ins1 commonName ins1 TP53_g.11022C>T commonName C>T TP53_g.11022C>T protEffect p.Ser6Leu TP53_g.11392T>A commonName T>A TP53_g.11392T>A protEffect p.Phe54Tyr TP53_g.14058C>G commonName C>G TP53_g.14058C>G protEffect p.Thr329Ser TP53_g.11500C>A commonName C>A TP53_g.11500C>A protEffect p.Ser90Tyr TP53_g.13824_13825ins1 commonName ins1 TP53_g.13796G>T commonName G>T TP53_g.13796G>T protEffect p.Val272Val TP53_g.12375_12376ins1 commonName ins1 TP53_g.12640_12645del commonName del6 TP53_g.13324_13325del commonName del2 TP53_g.13325_13339del commonName del15 TP53_g.13773_13895del commonName del123 TP53_g.14024_14038del commonName del15 TP53_g.11054_11056del commonName del3 TP53_g.11059_11065del commonName del7 TP53_g.11498_11499ins1 commonName ins1 TP53_g.12644A>C commonName A>C TP53_g.12644A>C protEffect p.Gln192Pro TP53_g.13796_13797ins7 commonName ins7 TP53_g.11538_11564del commonName del27 TP53_g.11538_11564del protEffect Y103_L111del TP53_g.12377_12378delinsCT commonName TC>CT TP53_g.12377_12378delinsCT protEffect p.Leu130Pro TP53_g.12393del commonName del1 TP53_g.12380_12381delinsGT commonName AC>GT TP53_g.12380_12381delinsGT protEffect p.Asn131Ser TP53_g.12437_12438delinsAC commonName CA>AC TP53_g.12437_12438delinsAC protEffect p.Thr150Asn TP53_g.12438A>T commonName A>T TP53_g.12438A>T protEffect p.Thr150Thr TP53_g.13861A>C commonName A>C TP53_g.13861A>C protEffect p.Glu294Ala TP53_g.13899_13900delinsTT commonName GG>TT TP53_g.13786_13787ins12 commonName ins12 TP53_g.13431C>T commonName C>T TP53_g.12799C>T commonName C>T TP53_g.12555G>A commonName G>A TP53_g.11623G>A commonName G>A TP53_g.13450G>A commonName G>A TP53_g.13465G>A commonName G>A TP53_g.11584C>T commonName C>T TP53_g.11584C>T protEffect p.Thr118Ile TP53_g.11362T>C commonName T>C TP53_g.11362T>C protEffect p.Met44Thr TP53_g.11602G>A commonName G>A TP53_g.11602G>A protEffect p.Cys124Tyr TP53_g.12526_12527del commonName del2 TP53_g.11460_11489del commonName del30 TP53_g.11551A>G commonName A>G TP53_g.11551A>G protEffect p.Tyr107Cys TP53_g.11604A>G commonName A>G TP53_g.11604A>G protEffect p.Thr125Ala TP53_g.11521T>C commonName T>C TP53_g.11521T>C protEffect p.Val97Ala TP53_g.11361A>G commonName A>G TP53_g.11361A>G protEffect p.Met44Val TP53_g.11584C>G commonName C>G TP53_g.11584C>G protEffect p.Thr118Arg TP53_g.11651G>A commonName G>A TP53_g.11624G>A commonName G>A TP53_g.12407C>A commonName C>A TP53_g.12407C>A protEffect p.Thr140Asn TP53_g.12488_12489ins1 commonName ins1 TP53_g.12500_12501delinsTC commonName AG>TC TP53_g.12500_12501delinsTC protEffect p.Glu171Val TP53_g.12487_12492delinsTACCTC commonName CAGCAC>TACCTC TP53_g.12487_12492delinsTACCTC protEffect Q167Y;H168L] TP53_g.12646_12647ins1 commonName ins1 TP53_g.13332_13333ins1 commonName ins1 TP53_g.12529_12534delinsTGCTGT commonName CGCTGC>TGCTGT TP53_g.12529_12534delinsTGCTGT protEffect R181C TP53_g.12491_12495delinsTCATT commonName ACATG>TCATT TP53_g.12491_12495delinsTCATT protEffect H168L/M169I] TP53_g.12699C>G commonName C>G TP53_g.12699C>G protEffect p.Asn210Lys TP53_g.12676_12681delinsCTGGTG commonName GTGGAG>CTGGTG TP53_g.12676_12681delinsCTGGTG protEffect V203L/E204V] TP53_g.12497_12498ins1 commonName ins1 TP53_g.13377del commonName del1 TP53_g.12638del commonName del1 TP53_g.13380del commonName del1 TP53_g.13389_13390ins1 commonName ins1 TP53_g.13881C>A commonName C>A TP53_g.13881C>A protEffect p.Pro301Thr TP53_g.13436C>A commonName C>A TP53_g.13438C>G commonName C>G TP53_g.11600del commonName del1 TP53_g.14058C>T commonName C>T TP53_g.14058C>T protEffect p.Thr329Ile TP53_g.13334_13363del commonName del30 TP53_g.13429C>A commonName C>A TP53_g.16998G>T commonName G>T TP53_g.12735G>A commonName G>A TP53_g.12735G>A protEffect p.Pro222Pro TP53_g.13931G>T commonName G>T TP53_g.13754C>A commonName C>A TP53_g.13827_13836del commonName del10 TP53_g.12552G>T commonName G>T TP53_g.13293C>A commonName C>A TP53_g.12715_12716ins1 commonName ins1 TP53_g.11606G>C commonName G>C TP53_g.11606G>C protEffect p.Thr125Thr TP53_g.12755C>T commonName C>T TP53_g.12454_12462del commonName del9 TP53_g.12441_12444del commonName del4 TP53_g.11483_11493del commonName del11 TP53_g.16916_16917del commonName del2 TP53_g.11494del commonName del1 TP53_g.16906G>A commonName G>A TP53_g.16906G>A protEffect p.Glu339Lys TP53_g.16916del commonName del1 TP53_g.12521_12523del commonName del3 TP53_g.16951C>A commonName C>A TP53_g.16951C>A protEffect p.Gln354Lys TP53_g.13298G>T commonName G>T TP53_g.13335A>C commonName A>C TP53_g.13335A>C protEffect p.His233Pro TP53_g.12738T>C commonName T>C TP53_g.12738T>C protEffect p.Pro223Pro TP53_g.11489_11511del commonName del23 TP53_g.12440_12442del commonName del3 TP53_g.12454_12471del commonName del18 TP53_g.13369_13373del commonName del5 TP53_g.13796_13797delinsTT commonName GC>TT TP53_g.13796_13797delinsTT protEffect V272V;R273C] TP53_g.12445_12456del commonName del12 TP53_g.13895_13896delinsTT commonName GC>TT TP53_g.13895_13896delinsTT protEffect K305N;R306X] TP53_g.12540_12541ins4 commonName ins4 TP53_g.12379_12384del commonName del6 TP53_g.12374C>G commonName C>G TP53_g.12374C>G protEffect p.Ala129Gly TP53_g.13340del commonName del1 TP53_g.12680_12681ins1 commonName ins1 TP53_g.12727_12728ins1 commonName ins1 TP53_g.12727_12728ins1 protEffect Y220X TP53_g.13376_13377delinsTT commonName AA>TT TP53_g.13376_13377delinsTT protEffect p.Asn247Phe TP53_g.13377_13381delinsTTCCC commonName ACCGG>TTCCC TP53_g.13377_13381delinsTTCCC protEffect N247I;R248] TP53_g.12677_12678ins1 commonName ins1 TP53_g.13368del commonName del1 TP53_g.13413del commonName del1 TP53_g.11381_11388del commonName del8 TP53_g.11361_11364del commonName del4 TP53_g.11538_11552del commonName del15 TP53_g.11541del commonName del1 TP53_g.11568_11570del commonName del3 TP53_g.12378_12380del commonName del3 TP53_g.12428_12457del commonName del30 TP53_g.12742del commonName del1 TP53_g.14006_14007del commonName del2 TP53_g.14048_14078del commonName del31 TP53_g.14051_14052del commonName del2 TP53_g.16919del commonName del1 TP53_g.11601T>G commonName T>G TP53_g.11601T>G protEffect p.Cys124Gly TP53_g.16906G>C commonName G>C TP53_g.16906G>C protEffect p.Glu339Gln TP53_g.17984C>T commonName C>T TP53_g.17984C>T protEffect p.Ser392Leu TP53_g.14063_14064ins2 commonName ins2 TP53_g.13353_13364del commonName del12 TP53_g.13985_13991del commonName del7 TP53_g.13787_13789del commonName del3 TP53_g.12724_12739del commonName del16 TP53_g.12394_12397del commonName del4 TP53_g.11542del commonName del1 TP53_g.11343del commonName del1 TP53_g.11510_11511ins7 commonName ins7 TP53_g.11558_11559ins11 commonName ins11 TP53_g.11589A>C commonName A>C TP53_g.11589A>C protEffect p.Lys120Gln TP53_g.13352_13373del commonName del22 TP53_g.13370_13372del commonName del3 TP53_g.13382_13390del commonName del9 TP53_g.12460_12461ins3 commonName ins3 TP53_g.11204_11206delinsCA commonName GAA>CA TP53_g.30005del commonName del1 TP53_g.12402_12403ins8 commonName ins8 TP53_g.12503del commonName del1 TP53_g.14013_14029del commonName del17 TP53_g.12465del commonName del1 TP53_g.12490_12513del commonName del24 TP53_g.13347_13348del commonName del2 TP53_g.13790_13791delinsGT commonName TG>GT TP53_g.13790_13791delinsGT protEffect F270L;E271X] TP53_g.11059A>T commonName A>T TP53_g.11059A>T protEffect p.Thr18Thr TP53_g.12665del commonName del1 TP53_g.13769T>G commonName T>G TP53_g.13769T>G protEffect p.Asn263Lys TP53_g.13996G>T commonName G>T TP53_g.13996G>T protEffect p.Leu308Leu TP53_g.12720_12761del commonName del42 TP53_g.11340_11361del commonName del22 TP53_g.12396A>T commonName A>T TP53_g.12396A>T protEffect p.Gln136His TP53_g.11404C>A commonName C>A TP53_g.11404C>A protEffect p.Pro58Gln TP53_g.11578C>T commonName C>T TP53_g.11578C>T protEffect p.Ser116Phe TP53_g.11614G>A commonName G>A TP53_g.11621G>A commonName G>A TP53_g.12467T>C commonName T>C TP53_g.12467T>C protEffect p.Met160Thr TP53_g.12725C>G commonName C>G TP53_g.12725C>G protEffect p.Pro219Arg TP53_g.11583A>G commonName A>G TP53_g.11583A>G protEffect p.Thr118Ala TP53_g.13875C>G commonName C>G TP53_g.13875C>G protEffect p.Leu299Val TP53_g.11457_11501del commonName del45 TP53_g.11429G>A commonName G>A TP53_g.11429G>A protEffect p.Met66Ile TP53_g.11558C>T commonName C>T TP53_g.11558C>T protEffect p.Phe109Phe TP53_g.13781G>C commonName G>C TP53_g.13781G>C protEffect p.Arg267Arg TP53_g.13816_13817delinsTA commonName GG>TA TP53_g.13816_13817delinsTA protEffect p.Gly279Val TP53_g.12721_12741del commonName del21 TP53_g.11570C>G commonName C>G TP53_g.11570C>G protEffect p.Phe113Leu TP53_g.13753_13783del commonName del31 TP53_g.13345del commonName del1 TP53_g.12416T>G commonName T>G TP53_g.12416T>G protEffect p.Val143Gly TP53_g.16895del commonName del1 TP53_g.14063del commonName del1 TP53_g.12470_12472del commonName del3 TP53_g.11393del commonName del1 TP53_g.13386_13394del commonName del9 TP53_g.11346G>C commonName G>C TP53_g.11346G>C protEffect p.Ala39Pro TP53_g.16934T>C commonName T>C TP53_g.16934T>C protEffect p.Leu348Ser TP53_g.12626_12638del commonName del13 TP53_g.13821_13835del commonName del15 TP53_g.12488_12489ins2 commonName ins2 TP53_g.12495_12496delinsTT commonName GA>TT TP53_g.12495_12496delinsTT protEffect M169I;T170S] TP53_g.12484_12493del commonName del10 TP53_g.11493G>A commonName G>A TP53_g.11493G>A protEffect p.Ala88Thr TP53_g.12728A>T commonName A>T TP53_g.12728A>T protEffect p.Tyr220Phe TP53_g.13317_13318del commonName del2 TP53_g.13899G>C commonName G>C TP53_g.13899G>C protEffect p.Ala307Pro TP53_g.11524_11525ins5 commonName ins5 TP53_g.12430_12470del commonName del41 TP53_g.13354del commonName del1 TP53_g.12457_12458ins4 commonName ins4 TP53_g.12398_12419del commonName del22 TP53_g.12511_12544del commonName del34 TP53_g.13811_13812ins3 commonName ins3 TP53_g.12442_12443delinsT commonName CC>T TP53_g.13375_13392del commonName del18 TP53_g.13869_13894del commonName del26 TP53_g.13354_13355del commonName del2 TP53_g.13864_13889del commonName del26 TP53_g.13797_13833del commonName del37 TP53_g.16903T>C commonName T>C TP53_g.16903T>C protEffect p.Phe338Leu TP53_g.13780G>T commonName G>T TP53_g.13780G>T protEffect p.Arg267Leu TP53_g.11211A>G commonName A>G TP53_g.11211A>G protEffect p.Asn30Ser TP53_g.17915T>C commonName T>C TP53_g.17915T>C protEffect p.Leu369Pro TP53_g.11054G>A commonName G>A TP53_g.11054G>A protEffect p.Glu17Lys TP53_g.12490_12510del commonName del21 TP53_g.13310_13330del commonName del21 TP53_g.11451_11510del commonName del60 TP53_g.12376_12390del commonName del15 TP53_g.11429_11430ins1 commonName ins1 TP53_g.13856del commonName del1 TP53_g.11567_11569del commonName del3 TP53_g.11556T>G commonName T>G TP53_g.11556T>G protEffect p.Phe109Val TP53_g.11577_11589del commonName del13 TP53_g.12385_12403del commonName del19 TP53_g.12333T>C commonName T>C TP53_g.12669T>G commonName T>G TP53_g.12669T>G protEffect p.Asn200Lys TP53_g.13998C>A commonName C>A TP53_g.13998C>A protEffect p.Pro309His TP53_g.13366G>T commonName G>T TP53_g.13366G>T protEffect p.Met243Ile TP53_g.12721del commonName del1 TP53_g.13785_13821del commonName del37 TP53_g.11538_11556del commonName del19 TP53_g.11550_11551del commonName del2 TP53_g.13369_13370ins3 commonName ins3 TP53_g.14027del commonName del1 TP53_g.16884_16885ins14 commonName ins14 TP53_g.16908_16909ins2 commonName ins2 TP53_g.12363_12364ins18 commonName ins18 TP53_g.13837_13843del commonName del7 TP53_g.17986_17989del commonName del4 TP53_g.12718G>A commonName G>A TP53_g.12718G>A protEffect p.Val217Met TP53_g.12630T>G commonName T>G TP53_g.12630T>G protEffect p.Gly187Gly TP53_g.13803_13804delinsCA commonName TG>CA TP53_g.13803_13804delinsCA protEffect p.Cys275His TP53_g.12697A>T commonName A>T TP53_g.12697A>T protEffect p.Asn210Tyr TP53_g.13990A>C commonName A>C TP53_g.13371del commonName del1 TP53_g.14052_14053ins2 commonName ins2 TP53_g.11352G>A commonName G>A TP53_g.11352G>A protEffect p.Asp41Asn TP53_g.14042G>C commonName G>C TP53_g.14042G>C protEffect p.Asp324His TP53_g.17985_17986ins1 commonName ins1 TP53_g.12433T>G commonName T>G TP53_g.12433T>G protEffect p.Ser149Ala TP53_g.13407_13409del commonName del3 TP53_g.13819_13821del commonName del3 TP53_g.12400G>T commonName G>T TP53_g.12400G>T protEffect p.Ala138Ser TP53_g.11572_11573ins4 commonName ins4 TP53_g.11480G>C commonName G>C TP53_g.11480G>C protEffect p.Ala83Ala TP53_g.11480del commonName del1 TP53_g.12671_12672ins1 commonName ins1 TP53_g.13805del commonName del1 TP53_g.11587C>G commonName C>G TP53_g.11587C>G protEffect p.Ala119Gly TP53_g.13990A>T commonName A>T TP53_g.11360del commonName del1 TP53_g.16884G>T commonName G>T TP53_g.11444_11445del commonName del2 TP53_g.12727_12728ins2 commonName ins2 TP53_g.13999del commonName del1 TP53_g.13796_13797ins2 commonName ins2 TP53_g.12666del commonName del1 TP53_g.13848C>A commonName C>A TP53_g.13848C>A protEffect p.Arg290Ser TP53_g.12381C>A commonName C>A TP53_g.12381C>A protEffect p.Asn131Lys TP53_g.12374_12380del commonName del7 TP53_g.12439_12441del commonName del3 TP53_g.16966C>T commonName C>T TP53_g.16966C>T protEffect p.Pro359Ser TP53_g.13841_13842ins1 commonName ins1 TP53_g.14024C>G commonName C>G TP53_g.14024C>G protEffect p.Pro318Ala TP53_g.14051T>G commonName T>G TP53_g.14051T>G protEffect p.Tyr327Asp TP53_g.14006A>G commonName A>G TP53_g.14006A>G protEffect p.Thr312Ala TP53_g.16905_16906ins1 commonName ins1 TP53_g.11553G>T commonName G>T TP53_g.11553G>T protEffect p.Gly108Cys TP53_g.12373_12384del commonName del12 TP53_g.11409C>A commonName C>A TP53_g.11409C>A protEffect p.Pro60Thr TP53_g.11387_11388ins7 commonName ins7 TP53_g.16964A>T commonName A>T TP53_g.16964A>T protEffect p.Glu358Val TP53_g.16927G>T commonName G>T TP53_g.16927G>T protEffect p.Glu346STOP TP53_g.13775_13776delinsAA commonName GG>AA TP53_g.13775_13776delinsAA protEffect G266R TP53_g.12662_12663delinsGG commonName AA>GG TP53_g.12662_12663delinsGG protEffect p.Glu198Gly TP53_g.12675T>A commonName T>A TP53_g.12675T>A protEffect p.Arg202Arg TP53_g.14046G>T commonName G>T TP53_g.14046G>T protEffect p.Gly325Val TP53_g.13323G>T commonName G>T TP53_g.13323G>T protEffect p.Cys229Phe TP53_g.13824_13825delinsGA commonName CG>GA TP53_g.13824_13825delinsGA protEffect p.Arg282Glu TP53_g.11365T>C commonName T>C TP53_g.11365T>C protEffect p.Leu45Pro TP53_g.11588C>A commonName C>A TP53_g.11588C>A protEffect p.Ala119Ala TP53_g.11404C>T commonName C>T TP53_g.11404C>T protEffect p.Pro58Leu TP53_g.11458C>T commonName C>T TP53_g.11458C>T protEffect p.Ala76Val TP53_g.11452C>T commonName C>T TP53_g.11452C>T protEffect p.Ala74Val TP53_g.12486_12496del commonName del11 TP53_g.13843_13863del commonName del21 TP53_g.12489_12490ins2 commonName ins2 TP53_g.11445_11446del commonName del2 TP53_g.14033A>T commonName A>T TP53_g.14033A>T protEffect p.Lys321STOP TP53_g.11338C>A commonName C>A TP53_g.11338C>A protEffect p.Pro36Gln TP53_g.13314_13337del commonName del24 TP53_g.11215_11216ins1 commonName ins1 TP53_g.13895_13896delinsTA commonName GC>TA TP53_g.13895_13896delinsTA protEffect K305N TP53_g.13889C>T commonName C>T TP53_g.13889C>T protEffect p.Ser303Ser TP53_g.12663A>G commonName A>G TP53_g.12663A>G protEffect p.Glu198Glu TP53_g.12708A>T commonName A>T TP53_g.12708A>T protEffect p.Arg213Arg TP53_g.13993_13994del commonName del2 TP53_g.12456_12457del commonName del2 TP53_g.12635_12650del commonName del16 TP53_g.13409_13419del commonName del11 TP53_g.13763_13771del commonName del9 TP53_g.14036del commonName del1 TP53_g.13316_13333del commonName del18 TP53_g.14024C>T commonName C>T TP53_g.14024C>T protEffect p.Pro318Ser TP53_g.13894A>C commonName A>C TP53_g.13894A>C protEffect p.Lys305Thr TP53_g.13361_13376del commonName del16 TP53_g.12510_12527del commonName del18 TP53_g.11028_11029ins1 commonName ins1 TP53_g.11418G>C commonName G>C TP53_g.11418G>C protEffect p.Ala63Pro TP53_g.11455C>A commonName C>A TP53_g.11455C>A protEffect p.Pro75His TP53_g.17937_17938ins1 commonName ins1 TP53_g.11461C>A commonName C>A TP53_g.11461C>A protEffect p.Pro77Gln TP53_g.12707_12708ins1 commonName ins1 TP53_g.17986G>A commonName G>A TP53_g.17986G>A protEffect p.Asp393Asn TP53_g.13890_13892del commonName del3 TP53_g.13339_13340ins4 commonName ins4 TP53_g.11324A>G commonName A>G TP53_g.13985T>A commonName T>A TP53_g.12659T>C commonName T>C TP53_g.12659T>C protEffect p.Val197Ala TP53_g.12426G>T commonName G>T TP53_g.12426G>T protEffect p.Trp146Cys TP53_g.11604del commonName del1 TP53_g.11417del commonName del1 TP53_g.13771_13773del commonName del3 TP53_g.11544_11606del commonName del63 TP53_g.13357_13371del commonName del15 TP53_g.12689A>C commonName A>C TP53_g.12689A>C protEffect p.Asp207Ala TP53_g.12448_12456del commonName del9 TP53_g.16971_16972ins1 commonName ins1 TP53_g.12637_12638delinsAA commonName CC>AA TP53_g.12637_12638delinsAA protEffect p.Pro190Asn TP53_g.12487C>G commonName C>G TP53_g.12487C>G protEffect p.Gln167Glu TP53_g.11592T>A commonName T>A TP53_g.11592T>A protEffect p.Ser121Thr TP53_g.11451G>C commonName G>C TP53_g.11451G>C protEffect p.Ala74Pro TP53_g.11599_11606del commonName del8 TP53_g.16930G>C commonName G>C TP53_g.16930G>C protEffect p.Ala347Pro TP53_g.13886_13887ins8 commonName ins8 TP53_g.16945G>T commonName G>T TP53_g.16945G>T protEffect p.Asp352Tyr TP53_g.14052A>G commonName A>G TP53_g.14052A>G protEffect p.Tyr327Cys TP53_g.11409C>G commonName C>G TP53_g.11409C>G protEffect p.Pro60Ala TP53_g.12496_12502del commonName del7 TP53_g.11410C>G commonName C>G TP53_g.11410C>G protEffect p.Pro60Arg TP53_g.12668_12669del commonName del2 TP53_g.11545G>C commonName G>C TP53_g.11545G>C protEffect p.Gly105Ala TP53_g.11206A>G commonName A>G TP53_g.11206A>G protEffect p.Glu28Glu TP53_g.14007del commonName del1 TP53_g.11521_11525del commonName del5 TP53_g.13992C>T commonName C>T TP53_g.13992C>T protEffect p.Ala307Val TP53_g.12405_12406del commonName del2 TP53_g.14044del commonName del1 TP53_g.14062del commonName del1 TP53_g.14063C>G commonName C>G TP53_g.14063C>G protEffect p.Gln331Glu TP53_g.14063_14254del commonName del192 TP53_g.11480_11801del commonName del322 TP53_g.13832_13838del commonName del7 TP53_g.16944G>T commonName G>T TP53_g.16944G>T protEffect p.Lys351Asn TP53_g.12471_12473del commonName del3 TP53_g.13379_13390del commonName del12 TP53_g.11606_11616del commonName del11 TP53_g.12671del commonName del1 TP53_g.11202del commonName del1 TP53_g.11397del commonName del1 TP53_g.11522_11526del commonName del5 TP53_g.12407del commonName del1 TP53_g.12452_12469del commonName del18 TP53_g.12522_12526del commonName del5 TP53_g.12662_12670del commonName del9 TP53_g.13350_13361del commonName del12 TP53_g.14055_14056ins1 commonName ins1 TP53_g.16909A>G commonName A>G TP53_g.16909A>G protEffect p.Met340Val TP53_g.16905_16908del commonName del4 TP53_g.16909_16911del commonName del3 TP53_g.13780_13781delinsCT commonName GG>CT TP53_g.13780_13781delinsCT protEffect p.Arg267Pro TP53_g.11011G>A commonName G>A TP53_g.11011G>A protEffect p.Glu2Glu TP53_g.11339G>A commonName G>A TP53_g.11339G>A protEffect p.Pro36Pro TP53_g.11352_11355del commonName del4 TP53_g.11552del commonName del1 TP53_g.13763del commonName del1 TP53_g.13790_13791delinsA commonName TG>A TP53_g.16889_16890del commonName del2 TP53_g.13868_13869ins5 commonName ins5 TP53_g.13771_13772del commonName del2 TP53_g.12650_12669del commonName del20 TP53_g.12438_12439del commonName del2 TP53_g.11524_11554del commonName del31 TP53_g.13849_13850ins1 commonName ins1 TP53_g.11544_11552del commonName del9 TP53_g.11551_11552ins7 commonName ins7 TP53_g.11605_11624del commonName del20 TP53_g.13863_13875del commonName del13 TP53_g.12374_12376del commonName del3 TP53_g.11366_11367ins2 commonName ins2 TP53_g.11506_11622del commonName del117 TP53_g.11408_11471del commonName del64 TP53_g.17909G>A commonName G>A TP53_g.11548_11557del commonName del10 TP53_g.11370del commonName del1 TP53_g.13998C>T commonName C>T TP53_g.13998C>T protEffect p.Pro309Leu TP53_g.11491C>T commonName C>T TP53_g.11491C>T protEffect p.Pro87Leu TP53_g.12423del commonName del1 TP53_g.12685T>C commonName T>C TP53_g.12685T>C protEffect p.Leu206Leu TP53_g.11395C>T commonName C>T TP53_g.11395C>T protEffect p.Thr55Ile TP53_g.14048G>A commonName G>A TP53_g.14048G>A protEffect p.Glu326Lys TP53_g.11553_11564delinsATTCAG commonName 11553 TP53_g.12614_12624del commonName 12614 TP53_g.14916_17271del commonName 14916 TP53_g.12714del commonName 12714 TP53_g.12640_12641del commonName 12640 TP53_g.12711_12712ins6 commonName 12712 TP53_g.13390C>G commonName 13390 TP53_g.13390C>G protEffect p.Ile251Met TP53_g.13271G>A commonName 13271 TP53_g.12362_12363ins1 commonName 12363 TP53_g.12806_12807ins2 commonName 12807 TP53_g.11081_11247del commonName 11081 TP53_g.11502del commonName 11502 TP53_g.13824_13831del commonName 13824 TP53_g.14066del commonName 14066 TP53_g.12469_12470ins7 commonName 12470 TP53_g.12687_12693del commonName 12687 TP53_g.12618_12628del commonName 12618 TP53_g.13878_13879ins4 commonName 13879 TP53_g.14023G>C commonName 14023 TP53_g.14023G>C protEffect p.Gln317His TP53_g.14033A>G commonName 14033 TP53_g.14033A>G protEffect p.Lys321Glu TP53_g.11317C>G commonName 11317 TP53_g.16967C>T commonName 16967 TP53_g.16967C>T protEffect p.Pro359Leu TP53_g.17750G>A commonName 17750 TP53_g.17401G>A commonName 17401 TP53_g.16897_16898ins6 commonName 16898 TP53_g.11517_11519del commonName 11517 TP53_g.16929_16931del commonName 16929 TP53_g.12483_12484ins3 commonName 12484 TP53_g.17940del commonName 17940 TP53_g.12705del commonName 12705 TP53_g.11381T>A commonName 11381 TP53_g.11381T>A protEffect p.Ile50Ile TP53_g.12712_12729del commonName 12712 TP53_g.11068C>T commonName 11068 TP53_g.11068C>T protEffect p.Asp21Asp TP53_g.12497_12500del commonName 12497 TP53_g.13798_13807del commonName 13798 TP53_g.11559_11560ins7 commonName 11560 TP53_g.12470_12475del commonName 12470 TP53_g.7830A>T commonName 7830 TP53_g.17908A>G commonName 17908 IPNMDB_397 phenoCommon ALS4 / distal HMN with pyramidal tract signs IPNMDB_397 commonName c.8C>T IPNMDB_397 alias Thr3Ile IPNMDB_398 phenoCommon ALS4 / distal HMN with pyramidal tract signs IPNMDB_398 commonName c.1166T>C IPNMDB_398 alias Leu389Ser IPNMDB_399 phenoCommon ALS4 / distal HMN with pyramidal tract signs IPNMDB_399 commonName c.6407G>A IPNMDB_399 alias Arg2136His IPNMDB_951 phenoCommon HSN I IPNMDB_951 commonName c.196G>C IPNMDB_951 alias Glu66Gln IPNMDB_952 phenoCommon HSN I IPNMDB_952 commonName c.976delG IPNMDB_952 alias Val326fs IPNMDB_950 phenoCommon HSN I IPNMDB_950 commonName c.1065C>A IPNMDB_950 alias Asn355Lys IPNMDB_380 phenoCommon dHMN / Silver syndrome (SPG17) IPNMDB_380 commonName c.263A>G IPNMDB_380 alias Asn88Ser IPNMDB_381 phenoCommon dHMN / Silver syndrome (SPG17) IPNMDB_381 commonName c.269C>T IPNMDB_381 alias Ser90Leu IPNMDB_954 phenoCommon HSN with spastic paraplegia IPNMDB_954 commonName c.440A>G IPNMDB_954 alias [His147Arg]+[His147Arg] IPNMDB_360 phenoCommon congentital cataracts facial dysmorphism neuropathy syndrome IPNMDB_360 commonName c.863+389C>T IPNMDB_360 alias Leu287fs IPNMDB_643 phenoCommon dHMN with vocal fold paralysis IPNMDB_643 commonName c.175G>A IPNMDB_643 alias Gly59Ser IPNMDB_885 phenoCommon centronuclear myopathy + PNS (CMT2) + CNS abnormalies IPNMDB_885 commonName c.1102G>C IPNMDB_885 alias Glu368Gln IPNMDB_886 phenoCommon CMT2 IPNMDB_886 commonName c.1597G>T IPNMDB_886 alias Gly533Cys IPNMDB_729 phenoCommon CMT1/2 IPNMDB_729 commonName c.1652_1659+1delATGAGGAGg IPNMDB_729 alias Asp551_Glu553del; Asp551fs IPNMDB_730 phenoCommon CMT1/2 IPNMDB_730 commonName c.1672_1674delAAG IPNMDB_730 alias Lys558del IPNMDB_731 phenoCommon CMT1/2 IPNMDB_731 commonName c.1672A>G IPNMDB_731 alias Lys558Glu IPNMDB_887 phenoCommon CMT2 IPNMDB_887 commonName c.1697T>A IPNMDB_887 alias Leu566His IPNMDB_281 phenoCommon CH IPNMDB_281 commonName c.803T>A IPNMDB_281 alias [Ile268Asn]+[Ile268Asn] IPNMDB_334 phenoCommon CMT1-severe IPNMDB_334 commonName c.1064A>T IPNMDB_334 alias Asp355Val IPNMDB_282 phenoCommon DSS (plus cranial nerve involvement)/CMT1 IPNMDB_282 commonName c.1075C>T IPNMDB_282 alias Arg359Trp IPNMDB_815 phenoCommon CMT1 + progressive scoliosis IPNMDB_815 commonName c.1076G>A IPNMDB_815 alias Arg359Gln IPNMDB_286 phenoCommon - (polymorphism) IPNMDB_286 commonName c.1086A>C IPNMDB_286 alias Arg362Arg IPNMDB_487 phenoCommon CMT1 IPNMDB_487 commonName c.1141C>T IPNMDB_487 alias Arg381Cys IPNMDB_335 phenoCommon CMT1 (+ cranial nerve involvement) IPNMDB_335 commonName c.1142G>A IPNMDB_335 alias Arg381His IPNMDB_283 phenoCommon CH IPNMDB_283 commonName c.[1146T>G;1147G>T] IPNMDB_283 alias [Ser382Arg; Asp383Tyr] IPNMDB_36 phenoCommon DSS IPNMDB_36 commonName c.1147G>T IPNMDB_36 alias Asp383Tyr IPNMDB_284 phenoCommon CMT1 IPNMDB_284 commonName c.1225C>T IPNMDB_284 alias Arg409Trp IPNMDB_923 phenoCommon DSS IPNMDB_923 commonName c.1234G>A IPNMDB_923 alias Glu412Lys IPNMDB_379 phenoCommon unspecified CMT IPNMDB_379 commonName c.1352G>T IPNMDB_379 alias Gly451Val IPNMDB_949 phenoCommon HSN II IPNMDB_949 commonName c.873+2T>C IPNMDB_949 alias [5'-splice site]+[5'-splice site] IPNMDB_926 phenoCommon CMT4H IPNMDB_926 commonName c.670C>T IPNMDB_926 alias [Arg224X]+[Arg224X] IPNMDB_930 phenoCommon CMT4H IPNMDB_930 commonName c.893T>C IPNMDB_930 alias [Met298Thr]+[Met298Thr] IPNMDB_927 phenoCommon CMT4H IPNMDB_927 commonName c.893T>G IPNMDB_927 alias [Met298Arg]+[Met298Arg]/[Met298fs]+[Met298fs] IPNMDB_928 phenoCommon CMT4H IPNMDB_928 commonName c.1628_1629delAG IPNMDB_928 alias [Glu543fs]+[Glu543fs] IPNMDB_929 phenoCommon CMT4H IPNMDB_929 commonName c.1756G>T IPNMDB_929 alias [Gly586X]+[Gly586X] IPNMDB_932 phenoCommon CMT4J IPNMDB_932 commonName c.[122T>C]+[294delT] IPNMDB_932 alias [Ile41Thr]+[Phe98fs] IPNMDB_934 phenoCommon CMT4J IPNMDB_934 commonName c.[122T>C]+[759delG] IPNMDB_934 alias [Ile41Thr]+[Gly253fs] IPNMDB_935 phenoCommon CMT4J IPNMDB_935 commonName c.[122T>C]+[1043_1050delATCAGGCA] IPNMDB_935 alias [Ile41Thr]+[Asp348fs] IPNMDB_474 phenoCommon GAN IPNMDB_474 commonName c.18_19insA IPNMDB_474 alias [Val7fs]+[Val7fs] IPNMDB_679 phenoCommon GAN IPNMDB_679 commonName c.[20_57del38]+[896A>C] IPNMDB_679 alias [Val7fs]+[Tyr299Cys] IPNMDB_472 phenoCommon GAN IPNMDB_472 commonName c.43C>A IPNMDB_472 alias [Arg15Ser]+[Arg15Ser] IPNMDB_678 phenoCommon GAN IPNMDB_678 commonName c.[145G>A]+[944C>T] IPNMDB_678 alias [Ala49Thr]+[Pro315Leu] IPNMDB_909 phenoCommon GAN IPNMDB_909 commonName c.151G>C IPNMDB_909 alias [Ala51Pro]+[Ala51Pro] IPNMDB_480 phenoCommon GAN IPNMDB_480 commonName c.[154A>G]+[1179T>A] IPNMDB_480 alias [Ser52Gly]+[Cys393X] IPNMDB_903 phenoCommon GAN IPNMDB_903 commonName c.168-1G>A IPNMDB_903 alias [Arg56fs]+[Arg56fs] IPNMDB_911 phenoCommon GAN IPNMDB_911 commonName c.213T>A IPNMDB_911 alias [Tyr71X]+[Tyr71X] IPNMDB_481 phenoCommon GAN (mut. in 2nd allele unknown) IPNMDB_481 commonName c.[236C>T]+[?] IPNMDB_481 alias [Ser79Leu]+[?] IPNMDB_476 phenoCommon GAN (mut. in 2nd allele unknown) IPNMDB_476 commonName c.[244G>T]+[?] IPNMDB_476 alias [Val82Phe]+[?] IPNMDB_652 phenoCommon GAN IPNMDB_652 commonName c.[256A>T]+[340_357delCTGACGGACCTTAAAACC] IPNMDB_652 alias [Ile86Phe]+[Leul114_Thr119del] IPNMDB_902 phenoCommon GAN IPNMDB_902 commonName c.[266A>G]+[1102G>A] IPNMDB_902 alias [Tyr89Cys]+[Gly368Arg] IPNMDB_482 phenoCommon GAN IPNMDB_482 commonName c.413G>A IPNMDB_482 alias [Arg138His]+[Arg138His] IPNMDB_906 phenoCommon GAN IPNMDB_906 commonName c.[583G>T]+[633+1G>T] IPNMDB_906 alias [Val195Phe]+[5'-splice site mutation] IPNMDB_569 phenoCommon GAN IPNMDB_569 commonName c.[601C>T]+[1268T>C] IPNMDB_569 alias [Arg201X]+[Ile423Thr] IPNMDB_649 phenoCommon GAN IPNMDB_649 commonName c.724C>T IPNMDB_649 alias [Arg242X]+[Arg242X] IPNMDB_483 phenoCommon GAN IPNMDB_483 commonName c.806G>A IPNMDB_483 alias Arg269Gln IPNMDB_836 phenoCommon GAN IPNMDB_836 commonName c.877C>T IPNMDB_836 alias [Arg293X]+[Arg293X] IPNMDB_479 phenoCommon GAN IPNMDB_479 commonName c.[877C>T]+[1709G>A] IPNMDB_479 alias [Arg293X]+[Cys570Tyr] IPNMDB_908 phenoCommon GAN IPNMDB_908 commonName c.[944C>T]+[1553_1554delTT] IPNMDB_908 alias [Pro315Leu]+[Phe518fs] IPNMDB_677 phenoCommon GAN IPNMDB_677 commonName c.[1086+1G>C]+[1529T>G] IPNMDB_677 alias [5'-splice site]+[Leu510X] IPNMDB_484 phenoCommon - (polymorphism) IPNMDB_484 commonName c.1086+71C>T IPNMDB_648 phenoCommon GAN IPNMDB_648 commonName c.1102G>A IPNMDB_648 alias [Gly368Arg]+[Gly368Arg] IPNMDB_477 phenoCommon GAN IPNMDB_477 commonName c.[1203G>A]+[1456G>A] IPNMDB_477 alias [Trp401X]+[Glu486Lys] IPNMDB_485 phenoCommon - (polymorphism) IPNMDB_485 commonName c.1293T>C IPNMDB_485 alias Tyr431Tyr IPNMDB_904 phenoCommon GAN IPNMDB_904 commonName c.[1420G>C]+[1429C>T] IPNMDB_904 alias [Gly474Arg]+[Arg477X] IPNMDB_650 phenoCommon GAN IPNMDB_650 commonName c.1429C>T IPNMDB_650 alias [Arg477X]+[Arg477X] IPNMDB_475 phenoCommon GAN IPNMDB_475 commonName c.1447C>T IPNMDB_475 alias [Gln483X]+[Gln483X] IPNMDB_473 phenoCommon GAN IPNMDB_473 commonName c.1456G>A IPNMDB_473 alias [Glu486Lys]+[Glu486Lys] IPNMDB_837 phenoCommon GAN IPNMDB_837 commonName c.1502+1G>T IPNMDB_837 alias 5'-splice site mutation IPNMDB_910 phenoCommon GAN IPNMDB_910 commonName c.1505G>A IPNMDB_910 alias [Trp502X]+[Trp502X] IPNMDB_478 phenoCommon GAN IPNMDB_478 commonName c.1633C>T IPNMDB_478 alias [Arg545Cys]+[Arg545Cys] IPNMDB_905 phenoCommon GAN IPNMDB_905 commonName c.1634G>A IPNMDB_905 alias [Arg545His]+[Arg545His] IPNMDB_676 phenoCommon GAN IPNMDB_676 commonName c.1684C>G IPNMDB_676 alias [Pro562Ala]+[Pro562Ala] IPNMDB_920 phenoCommon dHMN V + ptosis IPNMDB_920 commonName c.170C>T IPNMDB_920 alias Ala57Val IPNMDB_655 phenoCommon CMT2 / dHMN V IPNMDB_655 commonName c.212A>G IPNMDB_655 alias Glu71Gly IPNMDB_656 phenoCommon dHMN V IPNMDB_656 commonName c.385C>T IPNMDB_656 alias Leu129Pro IPNMDB_657 phenoCommon CMT2 IPNMDB_657 commonName c.718G>C IPNMDB_657 alias Gly240Arg IPNMDB_829 phenoCommon dHMN V IPNMDB_829 commonName c.838A>T IPNMDB_829 alias Ile280Phe IPNMDB_825 phenoCommon dHMN V IPNMDB_825 commonName c.1253A>G IPNMDB_825 alias His418Arg IPNMDB_826 phenoCommon CMT2 / dHMN IPNMDB_826 commonName c.1498G>A IPNMDB_826 alias Asp500Asn IPNMDB_658 phenoCommon dHMN V IPNMDB_658 commonName c.1576G>C IPNMDB_658 alias Gly526Arg IPNMDB_828 phenoCommon CMT2 IPNMDB_828 commonName c.1742C>T IPNMDB_828 alias Ser581Leu IPNMDB_564 phenoCommon CMT4A IPNMDB_564 commonName c.92G>A IPNMDB_564 alias [Trp31X]+[Trp31X] IPNMDB_752 phenoCommon CMT2 IPNMDB_752 commonName c.[311-1G>A]+[389C>G] IPNMDB_752 alias [3'-splice site mutation]+[Ser130Cys] IPNMDB_671 phenoCommon CMT2 IPNMDB_671 commonName c.[341_344delAAAG]+[487C>T] IPNMDB_671 alias [Glu114fs]+[Gln163X] IPNMDB_367 phenoCommon CMT4A IPNMDB_367 commonName c.[341_344delAAAG]+[715C>T] IPNMDB_367 alias [Glu114fs]+[Leu239Phe] IPNMDB_812 phenoCommon CMT2 IPNMDB_812 commonName c.347T>C IPNMDB_812 alias [Met116Thr]+[Met116Thr] IPNMDB_732 phenoCommon CMT4A (+pyramidal features) IPNMDB_732 commonName c.347T>G IPNMDB_732 alias [Met116Arg]+[Met116Arg] IPNMDB_611 phenoCommon CMT4A IPNMDB_611 commonName c.349_350insT IPNMDB_611 alias [Tyr117fs]+[Tyr117fs] IPNMDB_672 phenoCommon CMT2 IPNMDB_672 commonName c.358C>T IPNMDB_672 alias Arg120Trp IPNMDB_368 phenoCommon CMT4A IPNMDB_368 commonName c.[358C>T]+[811G>A] IPNMDB_368 alias [Arg120Trp]+[Gly271Arg] IPNMDB_642 phenoCommon DSS + vocal cord paresis + facial weakness IPNMDB_642 commonName c.359G>A IPNMDB_642 alias [Arg120Gln]+[Arg120Gln] IPNMDB_874 phenoCommon CMT4A IPNMDB_874 commonName c.439delA IPNMDB_874 alias [Thr147fs]+[Thr147fs] IPNMDB_734 phenoCommon CMT4A IPNMDB_734 commonName c.445G>T IPNMDB_734 alias [Asp149Tyr]+[Asp149Tyr] IPNMDB_900 phenoCommon CMT2 + hoarseness IPNMDB_900 commonName c.458C>T IPNMDB_900 alias [Pro153Leu]+[Pro153Leu] IPNMDB_673 phenoCommon CMT2 IPNMDB_673 commonName c.469A>C IPNMDB_673 alias Thr157Pro IPNMDB_566 phenoCommon CMT4A IPNMDB_566 commonName c.482G>A IPNMDB_566 alias [Arg161His]+[Arg161His] IPNMDB_366 phenoCommon CMT4A IPNMDB_366 commonName c.485-2A>G IPNMDB_366 alias [Ser162fsX166]+[Ser162fsX166] IPNMDB_561 phenoCommon CMT2 / DSS (+ vocal cord paresis + facial weakness) IPNMDB_561 commonName c.487C>T IPNMDB_561 alias [Gln163X]+[Gln163X] IPNMDB_562 phenoCommon CMT2 with vocal cord paresis IPNMDB_562 commonName c.[487C>T]+[581C>G] IPNMDB_562 alias [Gln163X]+[Ser194X] IPNMDB_612 phenoCommon - (polymorphism) IPNMDB_612 commonName c.507T>G IPNMDB_612 alias Ser169Ser IPNMDB_875 phenoCommon CMT4A IPNMDB_875 commonName c.[571C>T]+[715C>T] IPNMDB_875 alias [Arg191X]+[Leu239Phe] IPNMDB_613 phenoCommon CMT4A IPNMDB_613 commonName c.579+1G>A IPNMDB_613 alias [5'-splice site]+[5'-splice site] IPNMDB_674 phenoCommon CMT2 + vocal cord and diaphragm paralysis IPNMDB_674 commonName c.558delT IPNMDB_674 alias [Ile186fs]+[Ile186fs] IPNMDB_565 phenoCommon CMT4A IPNMDB_565 commonName c.581C>G IPNMDB_565 alias [Ser194X]+[Ser194X] IPNMDB_361 phenoCommon CMT2 (+vocal cord and diaphragm paresis) IPNMDB_361 commonName c.[581C>G]+[929G>A] IPNMDB_361 alias [Ser194X]+[Arg310Gln] IPNMDB_365 phenoCommon CMT4A IPNMDB_365 commonName c.668T>A IPNMDB_365 alias [Leu223X]+[Leu223X] IPNMDB_813 phenoCommon CMT4A IPNMDB_813 commonName c.715C>T IPNMDB_813 alias [Leu239Phe]+[Leu239Phe] IPNMDB_609 phenoCommon CMT4A IPNMDB_609 commonName c.786delG IPNMDB_609 alias [Gly262fs]+[Gly262fs] IPNMDB_610 phenoCommon CMT4A IPNMDB_610 commonName c.844C>T IPNMDB_610 alias [Arg282Cys]+[Arg282Cys] IPNMDB_104 phenoCommon CMT1X IPNMDB_104 commonName c.7T>C IPNMDB_104 alias Trp3Arg IPNMDB_288 commonName c.8G>A IPNMDB_288 alias Trp3X IPNMDB_105 phenoCommon CMT1X IPNMDB_105 commonName c.8G>C IPNMDB_105 alias Trp3Ser IPNMDB_466 phenoCommon CMT1X IPNMDB_466 commonName c.9G>A IPNMDB_466 alias Trp3X IPNMDB_616 phenoCommon CMT1X IPNMDB_616 commonName c.20_22delACA IPNMDB_616 alias Tyr7_Thr8delinsSer IPNMDB_106 phenoCommon CMT1X IPNMDB_106 commonName c.20A>G IPNMDB_106 alias Tyr7Cys IPNMDB_107 phenoCommon CMT1X IPNMDB_107 commonName c.22A>C IPNMDB_107 alias Thr8Pro IPNMDB_289 phenoCommon CMT1X IPNMDB_289 commonName c.26T>G IPNMDB_289 alias Leu9Trp IPNMDB_681 phenoCommon CMT1X IPNMDB_681 commonName c.27G>T IPNMDB_681 alias Leu9Phe IPNMDB_628 phenoCommon - (polymorphism) IPNMDB_628 commonName c.30C>T IPNMDB_628 alias Leu10Leu IPNMDB_108 phenoCommon CMT1X IPNMDB_108 commonName c.31A>G IPNMDB_108 alias Ser11Gly IPNMDB_109 phenoCommon CMT1X IPNMDB_109 commonName c.34G>A IPNMDB_109 alias Gly12Ser IPNMDB_290 phenoCommon - (polymorphism) IPNMDB_290 commonName c.36C>T IPNMDB_290 alias Gly12Gly IPNMDB_111 phenoCommon CMT1X IPNMDB_111 commonName c.37G>A IPNMDB_111 alias Val13Met IPNMDB_110 phenoCommon CMT1X IPNMDB_110 commonName c.37G>T IPNMDB_110 alias Val13Leu IPNMDB_378 phenoCommon unspecified CMT IPNMDB_378 commonName c.43delC IPNMDB_378 alias Arg15fs IPNMDB_114 phenoCommon CMT1X IPNMDB_114 commonName c.43C>T IPNMDB_114 alias Arg15Trp IPNMDB_113 phenoCommon CMT1X IPNMDB_113 commonName c.44G>A IPNMDB_113 alias Arg15Gln IPNMDB_115 phenoCommon CMT1X IPNMDB_115 commonName c.47A>C IPNMDB_115 alias His16Pro IPNMDB_345 phenoCommon CMT1 IPNMDB_345 commonName c.[59T>A;61G>A] IPNMDB_345 alias [Ile20Asn;Gly21Ser] IPNMDB_116 phenoCommon CMT1X IPNMDB_116 commonName c.59T>G IPNMDB_116 alias Ile20Ser IPNMDB_117 phenoCommon CMT1X IPNMDB_117 commonName c.62G>A IPNMDB_117 alias Gly21Asp IPNMDB_119 phenoCommon CMT1X IPNMDB_119 commonName c.64C>G IPNMDB_119 alias Arg22Gly IPNMDB_121 phenoCommon CMT1X IPNMDB_121 commonName c.64C>T IPNMDB_121 alias Arg22X IPNMDB_118 phenoCommon CMT1X IPNMDB_118 commonName c.65G>A IPNMDB_118 alias Arg22Gln IPNMDB_122 phenoCommon CMT1X IPNMDB_122 commonName c.[65G>A;187G>A] IPNMDB_122 alias [Arg22Gln;Val63Ile] IPNMDB_120 phenoCommon CMT1X IPNMDB_120 commonName c.65G>C IPNMDB_120 alias Arg22Pro IPNMDB_349 phenoCommon CMT1/2 IPNMDB_349 commonName c.68T>A IPNMDB_349 alias Val23Glu IPNMDB_123 phenoCommon CMT1X IPNMDB_123 commonName c.68T>C IPNMDB_123 alias Val23Ala IPNMDB_584 phenoCommon CMT1X + CNS involvement IPNMDB_584 commonName c.72G>T IPNMDB_584 alias Trp24Cys IPNMDB_124 phenoCommon CMT1X IPNMDB_124 commonName c.73C>T IPNMDB_124 alias Leu25Phe IPNMDB_532 phenoCommon CMT1 IPNMDB_532 commonName c.74T>C IPNMDB_532 alias Leu25Pro IPNMDB_126 phenoCommon CMT1X IPNMDB_126 commonName c.77C>A IPNMDB_126 alias Ser26X IPNMDB_491 phenoCommon CMT1X IPNMDB_491 commonName c.77C>G IPNMDB_491 alias Ser26Trp IPNMDB_125 phenoCommon CMT1X IPNMDB_125 commonName c.77C>T IPNMDB_125 alias Ser26Leu IPNMDB_127 phenoCommon CMT1X IPNMDB_127 commonName c.83T>A IPNMDB_127 alias Ile28Asn IPNMDB_128 phenoCommon CMT1X IPNMDB_128 commonName c.83T>C IPNMDB_128 alias Ile28Thr IPNMDB_130 phenoCommon CMT1X IPNMDB_130 commonName c.85T>C IPNMDB_130 alias Phe29Leu IPNMDB_292 commonName c.88A>T IPNMDB_292 alias Ile30Phe IPNMDB_131 phenoCommon CMT1X IPNMDB_131 commonName c.89T>A IPNMDB_131 alias Ile30Asn IPNMDB_293 phenoCommon CMT1X IPNMDB_293 commonName c.89T>C IPNMDB_293 alias Ile30Thr IPNMDB_291 commonName c.90C>G IPNMDB_291 alias Ile30Met IPNMDB_129 phenoCommon CMT1X IPNMDB_129 commonName c.94_95insTCTTCA IPNMDB_129 alias Phe31_Arg32insIlePhe IPNMDB_133 phenoCommon CMT1X IPNMDB_133 commonName c.100A>G IPNMDB_133 alias Met34Val IPNMDB_344 phenoCommon CMT1/2 IPNMDB_344 commonName c.101T>A IPNMDB_344 alias Met34Lys IPNMDB_132 phenoCommon CMT1X IPNMDB_132 commonName c.101T>C IPNMDB_132 alias Met34Thr IPNMDB_294 commonName c.102G>A IPNMDB_294 alias Met34Ile IPNMDB_134 phenoCommon CMT1X IPNMDB_134 commonName c.103G>A IPNMDB_134 alias Val35Met IPNMDB_135 phenoCommon CMT1X IPNMDB_135 commonName c.109G>A IPNMDB_135 alias Val37Met IPNMDB_136 phenoCommon CMT1X IPNMDB_136 commonName c.112G>A IPNMDB_136 alias Val38Met IPNMDB_742 phenoCommon CMT1X + hearing loss IPNMDB_742 commonName c.113T>C IPNMDB_742 alias Val38Ala IPNMDB_738 phenoCommon CMT1X IPNMDB_738 commonName c.114_115insC IPNMDB_738 alias Ala39fs IPNMDB_137 phenoCommon CMT1X IPNMDB_137 commonName c.115G>C IPNMDB_137 alias Ala39Pro IPNMDB_925 phenoCommon CMT IPNMDB_925 commonName c.115delG IPNMDB_925 alias Ala39fs IPNMDB_138 phenoCommon CMT1X (+ CNS involvement) IPNMDB_138 commonName c.116C>T IPNMDB_138 alias Ala39Val IPNMDB_739 phenoCommon CMT1X IPNMDB_739 commonName c.118G>A IPNMDB_739 alias Ala40Thr IPNMDB_139 phenoCommon CMT1X IPNMDB_139 commonName c.119C>T IPNMDB_139 alias Ala40Val IPNMDB_140 phenoCommon CMT1X IPNMDB_140 commonName c.121G>A IPNMDB_140 alias Glu41Lys IPNMDB_833 phenoCommon CMT1X + CNS involvement IPNMDB_833 commonName c.123G>C IPNMDB_833 alias Glu41Asp IPNMDB_141 phenoCommon CMT1X IPNMDB_141 commonName c.124delA IPNMDB_141 alias Ser42fs IPNMDB_142 phenoCommon CMT1X IPNMDB_142 commonName c.127G>A IPNMDB_142 alias Val43Met IPNMDB_295 commonName c.131G>A IPNMDB_295 alias Trp44X IPNMDB_143 phenoCommon CMT1X IPNMDB_143 commonName c.131G>T IPNMDB_143 alias Trp44Leu IPNMDB_438 phenoCommon CMT1X IPNMDB_438 commonName c.132G>A IPNMDB_438 alias Trp44X IPNMDB_917 phenoCommon CMT1 IPNMDB_917 commonName c.137A>G IPNMDB_917 alias Asp46Gly IPNMDB_880 phenoCommon CMT1 IPNMDB_880 commonName c.140A>G IPNMDB_880 alias Glu47Gly IPNMDB_577 phenoCommon CMT1X IPNMDB_577 commonName c.145T>C IPNMDB_577 alias Ser49Pro IPNMDB_144 phenoCommon CMT2 IPNMDB_144 commonName c.146C>A IPNMDB_144 alias Ser49Tyr IPNMDB_145 phenoCommon CMT1X IPNMDB_145 commonName c.148T>C IPNMDB_145 alias Ser50Pro IPNMDB_296 commonName c.153C>A IPNMDB_296 alias Phe51Leu IPNMDB_146 phenoCommon CMT1X IPNMDB_146 commonName c.158G>C IPNMDB_146 alias Cys53Ser IPNMDB_685 phenoCommon CMT IPNMDB_685 commonName c.163A>G IPNMDB_685 alias Thr55Ala IPNMDB_579 phenoCommon CMT1X + CNS involvement IPNMDB_579 commonName c.164C>G IPNMDB_579 alias Thr55Arg IPNMDB_147 phenoCommon CMT1X IPNMDB_147 commonName c.164C>T IPNMDB_147 alias Thr55Ile IPNMDB_148 phenoCommon CMT1X IPNMDB_148 commonName c.166C>T IPNMDB_148 alias Leu56Phe IPNMDB_149 phenoCommon CMT1X IPNMDB_149 commonName c.171G>C IPNMDB_149 alias Gln57His IPNMDB_150 phenoCommon CMT1X IPNMDB_150 commonName c.173C>G IPNMDB_150 alias Pro58Arg IPNMDB_297 phenoCommon CMT1X IPNMDB_297 commonName c.175G>C IPNMDB_297 alias Gly59Arg IPNMDB_151 phenoCommon CMT1X IPNMDB_151 commonName c.175G>T IPNMDB_151 alias Gly59Cys IPNMDB_299 commonName c.178T>A IPNMDB_299 alias Cys60Ser IPNMDB_298 commonName c.178T>C IPNMDB_298 alias Cys60Arg IPNMDB_152 phenoCommon CMT1X IPNMDB_152 commonName c.179G>T IPNMDB_152 alias Cys60Phe IPNMDB_572 phenoCommon CMT1X (+ CNS involvement) IPNMDB_572 commonName c.184_185insCACTCCAGCCTGGCTGCAACA IPNMDB_572 alias Asn61_Ser62insTyrLeuGlnProGlyCysAsn IPNMDB_153 phenoCommon CMT1X (+ deafness) IPNMDB_153 commonName c.187G>A IPNMDB_153 alias Val63Ile IPNMDB_154 phenoCommon CMT1X IPNMDB_154 commonName c.191G>C IPNMDB_154 alias Cys64Ser IPNMDB_492 phenoCommon CMT1X IPNMDB_492 commonName c.191G>T IPNMDB_492 alias Cys64Phe IPNMDB_465 phenoCommon CMT1X IPNMDB_465 commonName c.193T>C IPNMDB_465 alias Tyr65His IPNMDB_155 phenoCommon CMT1X IPNMDB_155 commonName c.194A>G IPNMDB_155 alias Tyr65Cys IPNMDB_156 phenoCommon CMT1X IPNMDB_156 commonName c.196_198delGAC IPNMDB_156 alias Asp66del IPNMDB_300 phenoCommon CMT2 IPNMDB_300 commonName c.205T>C IPNMDB_300 alias Phe69Leu IPNMDB_301 phenoCommon CMT1X IPNMDB_301 commonName c.208C>G IPNMDB_301 alias Pro70Ala IPNMDB_302 commonName c.208C>T IPNMDB_302 alias Pro70Ser IPNMDB_157 phenoCommon CMT1X IPNMDB_157 commonName c.210_211insC IPNMDB_157 alias Ile71fs IPNMDB_303 commonName c.215C>T IPNMDB_303 alias Ser72Phe IPNMDB_158 phenoCommon CMT1X IPNMDB_158 commonName c.217delC IPNMDB_158 alias His73fs IPNMDB_161 phenoCommon CMT1X / CMT2 (+CNS involvement) IPNMDB_161 commonName c.223C>T IPNMDB_161 alias Arg75Trp IPNMDB_159 phenoCommon CMT1X IPNMDB_159 commonName c.224G>A IPNMDB_159 alias Arg75Gln IPNMDB_160 phenoCommon CMT1X IPNMDB_160 commonName c.224G>C IPNMDB_160 alias Arg75Pro IPNMDB_162 phenoCommon CMT1X IPNMDB_162 commonName c.230G>C IPNMDB_162 alias Trp77Ser IPNMDB_304 commonName c.230G>T IPNMDB_304 alias Trp77Leu IPNMDB_163 phenoCommon CMT1X IPNMDB_163 commonName c.231G>A IPNMDB_163 alias Trp77X IPNMDB_279 phenoCommon - (polymorphism) IPNMDB_279 commonName c.235C>T IPNMDB_279 alias Leu79Leu IPNMDB_165 phenoCommon CMT1X IPNMDB_165 commonName c.238C>T IPNMDB_165 alias Gln80X IPNMDB_164 phenoCommon CMT1X IPNMDB_164 commonName c.239A>G IPNMDB_164 alias Gln80Arg IPNMDB_166 phenoCommon CMT1X IPNMDB_166 commonName c.241C>T IPNMDB_166 alias Leu81Phe IPNMDB_305 commonName c.242T>A IPNMDB_305 alias Leu81His IPNMDB_167 phenoCommon CMT1X IPNMDB_167 commonName c.248T>C IPNMDB_167 alias Leu83Pro IPNMDB_467 phenoCommon CMT1/2 IPNMDB_467 commonName c.248T>G IPNMDB_467 alias Leu83Arg IPNMDB_168 phenoCommon CMT1X IPNMDB_168 commonName c.250G>A IPNMDB_168 alias Val84Ile IPNMDB_169 phenoCommon CMT1X IPNMDB_169 commonName c.254C>G IPNMDB_169 alias Ser85Cys IPNMDB_170 phenoCommon CMT1X IPNMDB_170 commonName c.254C>T IPNMDB_170 alias Ser85Phe IPNMDB_171 phenoCommon CMT1X IPNMDB_171 commonName c.256A>G IPNMDB_171 alias Thr86Ala IPNMDB_173 phenoCommon CMT1X IPNMDB_173 commonName c.256A>T IPNMDB_173 alias Thr86Ser IPNMDB_172 phenoCommon CMT1X IPNMDB_172 commonName c.257C>A IPNMDB_172 alias Thr86Asn IPNMDB_174 phenoCommon CMT1X IPNMDB_174 commonName c.259C>G IPNMDB_174 alias Pro87Ala IPNMDB_176 phenoCommon CMT1X IPNMDB_176 commonName c.259C>T IPNMDB_176 alias Pro87Ser IPNMDB_175 phenoCommon CMT1X IPNMDB_175 commonName c.260C>T IPNMDB_175 alias Pro87Leu IPNMDB_306 commonName c.265C>G IPNMDB_306 alias Leu89Val IPNMDB_177 phenoCommon CMT1X IPNMDB_177 commonName c.266T>C IPNMDB_177 alias Leu89Pro IPNMDB_346 phenoCommon CMT1/2 IPNMDB_346 commonName c.268C>G IPNMDB_346 alias Leu90Val IPNMDB_178 phenoCommon CMT1X IPNMDB_178 commonName c.269T>A IPNMDB_178 alias Leu90His IPNMDB_308 phenoCommon CMT1X IPNMDB_308 commonName c.271G>A IPNMDB_308 alias Val91Met IPNMDB_307 commonName c.272T>C IPNMDB_307 alias Val91Ala IPNMDB_179 phenoCommon CMT1X IPNMDB_179 commonName c.273_274delGG IPNMDB_179 alias Val91fs IPNMDB_180 phenoCommon CMT1X IPNMDB_180 commonName c.275_276delCC IPNMDB_180 alias Ala92fs IPNMDB_181 phenoCommon CMT1X IPNMDB_181 commonName c.277A>G IPNMDB_181 alias Met93Val IPNMDB_688 phenoCommon CMT1/2 IPNMDB_688 commonName c.280C>G IPNMDB_688 alias His94Asp IPNMDB_183 phenoCommon CMT1X IPNMDB_183 commonName c.280C>T IPNMDB_183 alias His94Tyr IPNMDB_182 phenoCommon CMT1X IPNMDB_182 commonName c.282C>A IPNMDB_182 alias His94Gln IPNMDB_350 phenoCommon CMT1 IPNMDB_350 commonName c.282C>G IPNMDB_350 alias His94Gln IPNMDB_184 phenoCommon CMT1X IPNMDB_184 commonName c.283G>A IPNMDB_184 alias Val95Met IPNMDB_309 commonName c.287C>T IPNMDB_309 alias Ala96Val IPNMDB_185 phenoCommon CMT1X IPNMDB_185 commonName c.298C>T IPNMDB_185 alias His100Tyr IPNMDB_187 phenoCommon CMT1X IPNMDB_187 commonName c.304G>T IPNMDB_187 alias Glu102X IPNMDB_186 phenoCommon CMT1X IPNMDB_186 commonName c.305A>G IPNMDB_186 alias Glu102Gly IPNMDB_556 phenoCommon CMT1 + white matter lesions IPNMDB_556 commonName c.304_306delGAG IPNMDB_556 alias Glu102del IPNMDB_188 phenoCommon CMT1X IPNMDB_188 commonName c.307A>G IPNMDB_188 alias Lys103Glu IPNMDB_189 phenoCommon CMT1X IPNMDB_189 commonName c.311A>C IPNMDB_189 alias Lys104Thr IPNMDB_190 phenoCommon CMT1X IPNMDB_190 commonName c.313delA IPNMDB_190 alias Met105fs IPNMDB_310 phenoCommon - (polymorphism) IPNMDB_310 commonName c.318A>G IPNMDB_310 alias Leu106Leu IPNMDB_191 phenoCommon CMT1X IPNMDB_191 commonName c.319C>T IPNMDB_191 alias Arg107Trp IPNMDB_568 phenoCommon CMT2 IPNMDB_568 commonName c.323T>C IPNMDB_568 alias Leu108Pro IPNMDB_580 phenoCommon CMT1X + CNS involvement IPNMDB_580 commonName c.324_325insT IPNMDB_580 alias Glu109X IPNMDB_408 phenoCommon CMT1X IPNMDB_408 commonName c.329G>A IPNMDB_408 alias Gly110Asp IPNMDB_192 phenoCommon CMT1X IPNMDB_192 commonName c.332_349delATGGGGACCCCCTACACC IPNMDB_192 alias His111_His116del IPNMDB_422 phenoCommon CMT1X IPNMDB_422 commonName c.338_345delACCCCCTA insTGGC IPNMDB_422 alias Asp113fs IPNMDB_629 phenoCommon CMT1 IPNMDB_629 commonName c.358_360delGTG IPNMDB_629 alias Val120del IPNMDB_193 phenoCommon CMT1X (+ CNS involvement) IPNMDB_193 commonName c.359T>A IPNMDB_193 alias Val120Glu IPNMDB_195 phenoCommon CMT1X IPNMDB_195 commonName c.371delA IPNMDB_195 alias Lys124fs IPNMDB_194 phenoCommon CMT1X IPNMDB_194 commonName c.372G>C IPNMDB_194 alias Lys124Asn IPNMDB_581 phenoCommon CMT1X IPNMDB_581 commonName c.374T>A IPNMDB_581 alias Val125Asp IPNMDB_682 phenoCommon CMT IPNMDB_682 commonName c.380T>G IPNMDB_682 alias Ile127Ser IPNMDB_311 phenoCommon CMT1X IPNMDB_311 commonName c.381C>G IPNMDB_311 alias Ile127Met IPNMDB_196 phenoCommon CMT1X IPNMDB_196 commonName c.382T>C IPNMDB_196 alias Ser128Pro IPNMDB_441 phenoCommon CMT1 IPNMDB_441 commonName c.383C>G IPNMDB_441 alias Ser128X IPNMDB_689 phenoCommon CMT1/2 IPNMDB_689 commonName c.389C>T IPNMDB_689 alias Thr130Ile IPNMDB_313 phenoCommon CMT1X (+CNS involvement) IPNMDB_313 commonName c.392T>C IPNMDB_313 alias Leu131Pro IPNMDB_312 phenoCommon - (polymorphism) IPNMDB_312 commonName c.393G>A IPNMDB_312 alias Leu131Leu IPNMDB_198 phenoCommon CMT1X IPNMDB_198 commonName c.394_395delTG IPNMDB_198 alias Trp132fs IPNMDB_494 phenoCommon CMT1X IPNMDB_494 commonName c.396G>A IPNMDB_494 alias Trp132X IPNMDB_199 phenoCommon CMT1X IPNMDB_199 commonName c.397T>C IPNMDB_199 alias Trp133Arg IPNMDB_201 phenoCommon CMT1X IPNMDB_201 commonName c.399G>A IPNMDB_201 alias Trp133X IPNMDB_200 phenoCommon CMT1X IPNMDB_200 commonName c.399G>T IPNMDB_200 alias Trp133Cys IPNMDB_314 commonName c.401C>A IPNMDB_314 alias Thr134Asn IPNMDB_202 phenoCommon CMT1X IPNMDB_202 commonName c.404A>G IPNMDB_202 alias Tyr135Cys IPNMDB_725 phenoCommon DSS IPNMDB_725 commonName GJB1:c.[407T>C]+EGR2:c.[1075C>T] IPNMDB_725 alias GJB1:[Val136Ala]+EGR2:[Arg359Trp] IPNMDB_725 comment digenic IPNMDB_203 phenoCommon CMT1X IPNMDB_203 commonName c.410delT IPNMDB_203 alias Ile137fs IPNMDB_315 commonName c.412A>G IPNMDB_315 alias Ser138Gly IPNMDB_617 phenoCommon CMT1X / CMT2 IPNMDB_617 commonName c.413G>A IPNMDB_617 alias Ser138Asn IPNMDB_204 phenoCommon CMT1X IPNMDB_204 commonName c.415G>A IPNMDB_204 alias Val139Met IPNMDB_856 phenoCommon CMT1X IPNMDB_856 commonName c.419T>A IPNMDB_856 alias Val 140Glu IPNMDB_205 phenoCommon CMT1X IPNMDB_205 commonName c.423C>G IPNMDB_205 alias Phe141Leu IPNMDB_206 phenoCommon CMT1X (+ CNS involvement) IPNMDB_206 commonName c.424C>T IPNMDB_206 alias Arg142Trp IPNMDB_207 phenoCommon CMT1X (+ deafness) IPNMDB_207 commonName c.425G>A IPNMDB_207 alias Arg142Gln IPNMDB_857 phenoCommon CMT1X IPNMDB_857 commonName c.428T>C IPNMDB_857 alias Leu143Pro IPNMDB_208 phenoCommon CMT1X IPNMDB_208 commonName c.432_434delGTT IPNMDB_208 alias Leu144del IPNMDB_630 phenoCommon CMT1 IPNMDB_630 commonName c.436G>A IPNMDB_630 alias Glu146Lys IPNMDB_209 phenoCommon CMT1X IPNMDB_209 commonName c.439delG IPNMDB_209 alias Ala147fs IPNMDB_631 phenoCommon CMT1 IPNMDB_631 commonName c.440C>A IPNMDB_631 alias Ala147Asp IPNMDB_316 phenoCommon - (polymorphism) IPNMDB_316 commonName c.441C>T IPNMDB_316 alias Ala147Ala IPNMDB_210 phenoCommon CMT1X IPNMDB_210 commonName c.445T>A IPNMDB_210 alias Phe149Ile IPNMDB_211 phenoCommon CMT1X IPNMDB_211 commonName c.445T>G IPNMDB_211 alias Phe149Val IPNMDB_915 phenoCommon CMT1 IPNMDB_915 commonName c.451T>C IPNMDB_915 alias Tyr151His IPNMDB_351 phenoCommon CMT1/2 IPNMDB_351 commonName c.452A>C IPNMDB_351 alias Tyr151Ser IPNMDB_409 phenoCommon CMT1X IPNMDB_409 commonName c.455T>A IPNMDB_409 alias Val152Asp IPNMDB_582 phenoCommon CMT1X IPNMDB_582 commonName c.458T>C IPNMDB_582 alias Phe153Ser IPNMDB_881 phenoCommon CMT1 IPNMDB_881 commonName c.459_460delTT IPNMDB_881 alias Phe153fs IPNMDB_212 phenoCommon CMT1X IPNMDB_212 commonName c.462T>A IPNMDB_212 alias Tyr154X IPNMDB_858 phenoCommon CMT1X IPNMDB_858 commonName c.466_475delCTCTACCCTG IPNMDB_858 alias Leu156fs IPNMDB_214 phenoCommon CMT1X IPNMDB_214 commonName c.466C>T IPNMDB_214 alias Leu156Phe IPNMDB_213 phenoCommon CMT1X IPNMDB_213 commonName c.467T>G IPNMDB_213 alias Leu156Arg IPNMDB_215 phenoCommon CMT1X IPNMDB_215 commonName c.470A>G IPNMDB_215 alias Tyr157Cys IPNMDB_216 phenoCommon CMT1X IPNMDB_216 commonName c.472C>G IPNMDB_216 alias Pro158Ala IPNMDB_218 phenoCommon CMT1X IPNMDB_218 commonName c.472C>T IPNMDB_218 alias Pro158Ser IPNMDB_217 phenoCommon CMT1X IPNMDB_217 commonName c.473C>G IPNMDB_217 alias Pro158Arg IPNMDB_317 commonName c.473C>T IPNMDB_317 alias Pro158Leu IPNMDB_318 phenoCommon CMT1X IPNMDB_318 commonName c.474delT IPNMDB_318 alias Pro158fs IPNMDB_219 phenoCommon CMT1X IPNMDB_219 commonName c.475G>A IPNMDB_219 alias Gly159Ser IPNMDB_558 phenoCommon unspecified CMT IPNMDB_558 commonName c.476G>A IPNMDB_558 alias Gly159Asp IPNMDB_220 phenoCommon CMT1X IPNMDB_220 commonName c.478T>C IPNMDB_220 alias Tyr160His IPNMDB_221 phenoCommon CMT1X IPNMDB_221 commonName c.481G>C IPNMDB_221 alias Ala161Pro IPNMDB_319 phenoCommon - (polymorphism) IPNMDB_319 commonName c.483C>T IPNMDB_319 alias Ala161Ala IPNMDB_223 phenoCommon CMT1X (+ transient CNS involvement) IPNMDB_223 commonName c.490C>T IPNMDB_223 alias Arg164Trp IPNMDB_222 phenoCommon CMT1X (+ CNS involvement), CMT2 IPNMDB_222 commonName c.491G>A IPNMDB_222 alias Arg164Gln IPNMDB_410 phenoCommon CMT1X IPNMDB_410 commonName c.499A>G IPNMDB_410 alias Lys167Glu IPNMDB_726 phenoCommon CMT1 IPNMDB_726 commonName c.502T>C IPNMDB_726 alias Cys168Arg IPNMDB_320 phenoCommon CMT1X + transient CNS involvement IPNMDB_320 commonName c.503G>A IPNMDB_320 alias Cys168Tyr IPNMDB_321 commonName c.504C>A IPNMDB_321 alias Cys168X IPNMDB_322 phenoCommon - (polymorphism) IPNMDB_322 commonName c.507C>T IPNMDB_322 alias Asp169Asp IPNMDB_618 phenoCommon CMT1X / CMT2 IPNMDB_618 commonName c.514C>G IPNMDB_618 alias Pro172Ala IPNMDB_225 phenoCommon CMT1X IPNMDB_225 commonName c.514C>T IPNMDB_225 alias Pro172Ser IPNMDB_323 phenoCommon CMT1X IPNMDB_323 commonName c.515C>G IPNMDB_323 alias Pro172Arg IPNMDB_224 phenoCommon CMT1X IPNMDB_224 commonName c.515C>T IPNMDB_224 alias Pro172Leu IPNMDB_226 phenoCommon CMT1X IPNMDB_226 commonName c.517T>C IPNMDB_226 alias Cys173Arg IPNMDB_468 commonName c.518G>A IPNMDB_468 alias Cys173Tyr IPNMDB_227 phenoCommon CMT1X IPNMDB_227 commonName c.523A>G IPNMDB_227 alias Asn175Asp IPNMDB_228 phenoCommon CMT1X IPNMDB_228 commonName c.524_525insA IPNMDB_228 alias Asn175fs IPNMDB_469 phenoCommon CMT1X IPNMDB_469 commonName c.526A>C IPNMDB_469 alias Thr176Pro IPNMDB_229 phenoCommon CMT1X IPNMDB_229 commonName c.530T>A IPNMDB_229 alias Val177Glu IPNMDB_230 phenoCommon CMT1X IPNMDB_230 commonName c.530T>C IPNMDB_230 alias Val177Ala IPNMDB_231 phenoCommon CMT1X IPNMDB_231 commonName c.532G>T IPNMDB_231 alias Asp178Tyr IPNMDB_232 phenoCommon CMT1X IPNMDB_232 commonName c.535T>C IPNMDB_232 alias Cys179Arg IPNMDB_882 phenoCommon unspecified CMT IPNMDB_882 commonName c.536G>A IPNMDB_882 alias Cys179Tyr IPNMDB_916 phenoCommon CMT1 IPNMDB_916 commonName c.538T>C IPNMDB_916 alias Phe180Leu IPNMDB_324 phenoCommon CMT1X IPNMDB_324 commonName c.539T>C IPNMDB_324 alias Phe180Ser IPNMDB_233 phenoCommon CMT1X IPNMDB_233 commonName c.540C>G IPNMDB_233 alias Phe180Leu IPNMDB_234 phenoCommon CMT1X IPNMDB_234 commonName c.541G>A IPNMDB_234 alias Val181Met IPNMDB_740 phenoCommon CMT1X IPNMDB_740 commonName c.542T>C IPNMDB_740 alias Val181Ala IPNMDB_235 phenoCommon CMT1X IPNMDB_235 commonName c.544T>A IPNMDB_235 alias Ser182Thr IPNMDB_238 phenoCommon CMT1X IPNMDB_238 commonName c.547C>A IPNMDB_238 alias Arg183Ser IPNMDB_236 phenoCommon CMT1X IPNMDB_236 commonName c.547C>T IPNMDB_236 alias Arg183Cys IPNMDB_237 phenoCommon CMT1X IPNMDB_237 commonName c.548G>A IPNMDB_237 alias Arg183His IPNMDB_239 phenoCommon CMT1X IPNMDB_239 commonName c.551C>G IPNMDB_239 alias Pro184Arg IPNMDB_352 phenoCommon CMT1/2 IPNMDB_352 commonName c.551C>T IPNMDB_352 alias Pro184Leu IPNMDB_240 phenoCommon CMT1X IPNMDB_240 commonName c.553_555delACC IPNMDB_240 alias Thr185del IPNMDB_241 phenoCommon CMT1X (+ deafness) IPNMDB_241 commonName c.556G>A IPNMDB_241 alias Glu186Lys IPNMDB_242 phenoCommon CMT1X IPNMDB_242 commonName c.556G>T IPNMDB_242 alias Glu186X IPNMDB_243 phenoCommon CMT1X IPNMDB_243 commonName c.556_557insG IPNMDB_243 alias Glu186fs IPNMDB_244 phenoCommon CMT1X IPNMDB_244 commonName c.559A>G IPNMDB_244 alias Lys187Glu IPNMDB_845 phenoCommon CMT1X IPNMDB_845 commonName c.561_569insAACCGTCTT IPNMDB_845 alias Val189_Phe190insLeuThrVal IPNMDB_325 phenoCommon CMT1X IPNMDB_325 commonName c.562A>G IPNMDB_325 alias Thr188Ala IPNMDB_246 phenoCommon CMT1X IPNMDB_246 commonName c.565G>A IPNMDB_246 alias Val189Ile IPNMDB_245 phenoCommon CMT1X IPNMDB_245 commonName c.566T>G IPNMDB_245 alias Val189Gly IPNMDB_486 phenoCommon CMT1X IPNMDB_486 commonName c.571A>G IPNMDB_486 alias Thr191Ala IPNMDB_834 phenoCommon CMT1X IPNMDB_834 commonName c.571_579dupACCGTCTTC IPNMDB_834 alias Thr191_Phe193dup IPNMDB_741 phenoCommon CMT1X IPNMDB_741 commonName c.572_580delCCGTCTTCA IPNMDB_741 alias Thr191_Phe193del IPNMDB_326 phenoCommon CMT1X IPNMDB_326 commonName c.574G>T IPNMDB_326 alias Val192Phe IPNMDB_249 phenoCommon CMT1X IPNMDB_249 commonName c.578T>G IPNMDB_249 alias Phe193Cys IPNMDB_347 phenoCommon CMT1 IPNMDB_347 commonName c.579C>G IPNMDB_347 alias Phe193Leu IPNMDB_250 phenoCommon CMT1X IPNMDB_250 commonName c.580A>G IPNMDB_250 alias Met194Val IPNMDB_251 phenoCommon CMT1X IPNMDB_251 commonName c.593C>T IPNMDB_251 alias Ser198Phe IPNMDB_727 phenoCommon - (polymorphism) IPNMDB_727 commonName c.594T>A IPNMDB_727 alias Ser198Ser IPNMDB_252 phenoCommon CMT1X IPNMDB_252 commonName c.595G>C IPNMDB_252 alias Gly199Arg IPNMDB_253 phenoCommon CMT1X IPNMDB_253 commonName c.601T>C IPNMDB_253 alias Cys201Arg IPNMDB_686 phenoCommon CMT1/2 IPNMDB_686 commonName c.602G>A IPNMDB_686 alias Cys201Tyr IPNMDB_883 phenoCommon CMT1 IPNMDB_883 commonName c.602G>T IPNMDB_883 alias Cys201Phe IPNMDB_254 phenoCommon CMT1X IPNMDB_254 commonName c.608T>A IPNMDB_254 alias Ile203Asn IPNMDB_255 phenoCommon CMT1X IPNMDB_255 commonName c.610C>G IPNMDB_255 alias Leu204Val IPNMDB_256 phenoCommon CMT1X IPNMDB_256 commonName c.610C>T IPNMDB_256 alias Leu204Phe IPNMDB_257 phenoCommon CMT1X (+ CNS involvement) IPNMDB_257 commonName c.614A>G IPNMDB_257 alias Asn205Ser IPNMDB_327 phenoCommon CMT2 + deafness IPNMDB_327 commonName c.614A>T IPNMDB_327 alias Asn205Ile IPNMDB_328 phenoCommon CMT1X IPNMDB_328 commonName c.617_618insT IPNMDB_328 alias Val206fs IPNMDB_258 phenoCommon CMT1X IPNMDB_258 commonName c.622G>A IPNMDB_258 alias Glu208Lys IPNMDB_533 phenoCommon CMT1X IPNMDB_533 commonName c.623A>G IPNMDB_533 alias Glu208Gly IPNMDB_632 phenoCommon CMT1 IPNMDB_632 commonName c.628_630delGTG IPNMDB_632 alias Val210del IPNMDB_507 phenoCommon CMT1 IPNMDB_507 commonName c.631T>C IPNMDB_507 alias Tyr211His IPNMDB_259 phenoCommon CMT1X IPNMDB_259 commonName c.633C>A IPNMDB_259 alias Tyr211X IPNMDB_884 phenoCommon CMT1 IPNMDB_884 commonName c.633delC IPNMDB_884 alias Leu212fs IPNMDB_680 phenoCommon CMT IPNMDB_680 commonName c.634C>T IPNMDB_680 alias Leu212Phe IPNMDB_260 phenoCommon CMT1X IPNMDB_260 commonName c.637_640delATCAinsC IPNMDB_260 alias Ile213_Ile214delinsLeu IPNMDB_329 commonName c.637A>G IPNMDB_329 alias Ile213Val IPNMDB_879 phenoCommon CMT1/2 IPNMDB_879 commonName c.641T>A IPNMDB_879 alias Ile214Asn IPNMDB_261 phenoCommon CMT1X IPNMDB_261 commonName c.643C>T IPNMDB_261 alias Arg215Trp IPNMDB_262 phenoCommon CMT1X IPNMDB_262 commonName c.651T>A IPNMDB_262 alias Cys217X IPNMDB_263 phenoCommon CMT1X IPNMDB_263 commonName c.655C>T IPNMDB_263 alias Arg219Cys IPNMDB_264 phenoCommon CMT1X IPNMDB_264 commonName c.656G>A IPNMDB_264 alias Arg219His IPNMDB_265 phenoCommon CMT1X IPNMDB_265 commonName c.658C>G IPNMDB_265 alias Arg220Gly IPNMDB_266 phenoCommon CMT1X IPNMDB_266 commonName c.658C>T IPNMDB_266 alias Arg220X IPNMDB_267 phenoCommon CMT1X IPNMDB_267 commonName c.688C>T IPNMDB_267 alias Arg230Cys RISN_LRAT:c.505A>T commonName Ser 175 Arg RISN_LRAT:c.505A>T phenoCommon Early-onset severe retinal dystrophy RISN_LRAT:c.505A>T protEffect p.Ser175Arg RISN_LRAT:c.332A>G commonName Glu 114 Glu RISN_LRAT:c.332A>G protEffect p.Glu114Glu RISN_XLRS:c.(?_1)_(184_?)del commonName Del Exon 1 - 3 RISN_XLRS:c.(?_1)_(184_?)del phenoCommon RS RISN_XLRS:c.(?_1)_(52_?)del commonName Exon 1 del RISN_XLRS:c.(?_1)_(52_?)del phenoCommon RS RISN_XLRS:c.1A>G commonName Met 1 Val RISN_XLRS:c.1A>G phenoCommon RS RISN_XLRS:c.1A>G protEffect p.Met1Val IPNMDB_268 phenoCommon CMT1X IPNMDB_268 commonName c.689G>T IPNMDB_268 alias Arg230Leu IPNMDB_269 phenoCommon CMT1X (severe) IPNMDB_269 commonName c.704T>G IPNMDB_269 alias Phe235Cys IPNMDB_270 phenoCommon CMT1X IPNMDB_270 commonName c.713G>A IPNMDB_270 alias Arg238His IPNMDB_330 phenoCommon CMT1X IPNMDB_330 commonName c.715C>A IPNMDB_330 alias Leu239Ile IPNMDB_271 phenoCommon CMT1X IPNMDB_271 commonName c.761_762insA IPNMDB_271 alias Glu254fs IPNMDB_633 phenoCommon CMT2 IPNMDB_633 commonName c.790C>T IPNMDB_633 alias Arg264Cys IPNMDB_272 phenoCommon CMT1X IPNMDB_272 commonName c.793_821del29 IPNMDB_272 alias Arg265fs IPNMDB_423 phenoCommon CMT1X RISN_XLRS:c.2T>C commonName Met 1 Thr RISN_XLRS:c.2T>C phenoCommon RS RISN_XLRS:c.2T>C protEffect p.Met1Thr RISN_XLRS:c.52+2T>C commonName IVS1+2t>c RISN_XLRS:c.52+2T>C phenoCommon RS RISN_XLRS:c.33_36delACTT commonName 33delACTT RISN_XLRS:c.33_36delACTT phenoCommon RS RISN_XLRS:c.35T>A commonName Leu 12 His RISN_XLRS:c.35T>A phenoCommon RS RISN_XLRS:c.35T>A protEffect p.Leu12His RISN_XLRS:c.38T>C commonName Leu 13 Pro RISN_XLRS:c.38T>C phenoCommon RS RISN_XLRS:c.38T>C protEffect p.Leu13Pro RISN_XLRS:c.52+1G>A commonName IVS1+1g>a RISN_XLRS:c.52+1G>A phenoCommon RS RISN_XLRS:c.52+1_52+2insT commonName IVS1+2ins t RISN_XLRS:c.52+1_52+2insT phenoCommon RS RISN_XLRS:c.52+5G>C commonName IVS1+5g>c RISN_XLRS:c.52+5G>C phenoCommon RS RISN_XLRS:c.52+1G>T commonName IVS1+1g>t RISN_XLRS:c.52+1G>T phenoCommon RS RISN_XLRS:c.53_77del commonName 53del25bp RISN_XLRS:c.53_77del phenoCommon RS RISN_XLRS:c.(?_53)_(78_?)del commonName Exon 2 del RISN_XLRS:c.(?_53)_(78_?)del phenoCommon RS RISN_XLRS:c.68C>A commonName Ser 23 ter RISN_XLRS:c.68C>A phenoCommon RS RISN_XLRS:c.68C>A protEffect p.Ser23X RISN_XLRS:c.76G>T commonName Glu 26 ter RISN_XLRS:c.76G>T phenoCommon RS RISN_XLRS:c.76G>T protEffect p.Glu26X RISN_XLRS:c.79-2A>G commonName IVS2-2a>g RISN_XLRS:c.79-2A>G phenoCommon RS RISN_XLRS:c.78+1G>A commonName IVS2+1g>a RISN_XLRS:c.78+1G>A phenoCommon RS RISN_XLRS:c.79_183del commonName 79del105del RISN_XLRS:c.79_183del phenoCommon RS RISN_XLRS:c.120C>A commonName Cys 40 ter RISN_XLRS:c.120C>A phenoCommon RS RISN_XLRS:c.120C>A protEffect p.Cys40X RISN_XLRS:c.163delA commonName 163delA RISN_XLRS:c.163delA phenoCommon RS RISN_XLRS:c.163_164insGCCA commonName 164insGCCA RISN_XLRS:c.163_164insGCCA phenoCommon RS RISN_XLRS:c.173_205del commonName 173del33bp RISN_XLRS:c.173_205del phenoCommon RS RISN_XLRS:c.175T>A commonName Cys 59 Ser RISN_XLRS:c.175T>A phenoCommon RS RISN_XLRS:c.175T>A protEffect p.Cys59Ser RISN_XLRS:c.181_194del commonName 181del14bp RISN_XLRS:c.181_194del phenoCommon RS RISN_XLRS:c.184+1G>C commonName IVS3+1g>c RISN_XLRS:c.184+1G>C phenoCommon RS RISN_XLRS:c.185-1G>C commonName IVS3-1g>c RISN_XLRS:c.185-1G>C phenoCommon RS RISN_XLRS:c.185_325del commonName 185del141bp RISN_XLRS:c.185_325del phenoCommon RS RISN_XLRS:c.185-34_623del commonName IVS3-34 del 473bp RISN_XLRS:c.185-34_623del phenoCommon RS RISN_XLRS:c.194A>G commonName Tyr 65 Cys RISN_XLRS:c.194A>G phenoCommon RS RISN_XLRS:c.194A>G protEffect p.Tyr65Cys RISN_XLRS:c.194delA commonName 194delA RISN_XLRS:c.194delA phenoCommon RS RISN_XLRS:c.208G>C commonName Gly 70 Ala RISN_XLRS:c.208G>C phenoCommon RS RISN_XLRS:c.208G>C protEffect p.Gly70Ala RISN_XLRS:c.209G>A commonName Gly 70 Ser RISN_XLRS:c.209G>A phenoCommon RS RISN_XLRS:c.209G>A protEffect p.Gly70Ser RISN_XLRS:c.214G>A commonName Glu 72 Lys RISN_XLRS:c.214G>A phenoCommon RS RISN_XLRS:c.214G>A protEffect p.Glu72Lys RISN_XLRS:c.214G>C commonName Glu 72 Gln RISN_XLRS:c.214G>C phenoCommon RS RISN_XLRS:c.214G>C protEffect p.Glu72Gln RISN_XLRS:c.216G>C commonName Glu 72 Asp RISN_XLRS:c.216G>C phenoCommon RS RISN_XLRS:c.216G>C protEffect p.Glu72Asp RISN_XLRS:c.217T>C commonName Ser 73 Pro RISN_XLRS:c.217T>C phenoCommon RS RISN_XLRS:c.217T>C protEffect p.Ser73Pro RISN_XLRS:c.219delA commonName 219delA RISN_XLRS:c.219delA phenoCommon RS RISN_XLRS:c.221G>T commonName Gly 74 Val RISN_XLRS:c.221G>T phenoCommon RS RISN_XLRS:c.221G>T protEffect p.Gly74Val RISN_XLRS:c.221_237delins20 commonName 221del17bp ins20bp RISN_XLRS:c.221_237delins20 phenoCommon RS RISN_XLRS:c.223G>T commonName Glu 75 ter RISN_XLRS:c.223G>T phenoCommon RS RISN_XLRS:c.223G>T protEffect p.Glu75X RISN_XLRS:c.242T>A commonName Ile 81 Asp RISN_XLRS:c.242T>A phenoCommon RS RISN_XLRS:c.242T>A protEffect p.Ile81Asp RISN_XLRS:c.253_255delAAC commonName 253delAAC RISN_XLRS:c.253_255delAAC phenoCommon RS RISN_XLRS:c.262C>T commonName Gln 88 ter RISN_XLRS:c.262C>T phenoCommon RS RISN_XLRS:c.262C>T protEffect p.Gln88X RISN_XLRS:c.266A>G commonName Tyr 89 Cys RISN_XLRS:c.266A>G phenoCommon RS RISN_XLRS:c.266A>G protEffect p.Tyr89Cys RISN_XLRS:c.267T>A commonName Tyr 89 ter RISN_XLRS:c.267T>A phenoCommon RS RISN_XLRS:c.267T>A protEffect p.Tyr89X RISN_XLRS:c.276G>C commonName Trp 92 Cys RISN_XLRS:c.276G>C phenoCommon RS RISN_XLRS:c.276G>C protEffect p.Trp92Cys RISN_XLRS:c.286T>C commonName Trp 96 Arg RISN_XLRS:c.286T>C phenoCommon RS RISN_XLRS:c.286T>C protEffect p.Trp96Arg RISN_XLRS:c.288G>A commonName Trp 96 ter RISN_XLRS:c.288G>A phenoCommon RS RISN_XLRS:c.288G>A protEffect p.Trp96X RISN_XLRS:c.293C>A commonName Ala 98 Glu RISN_XLRS:c.293C>A phenoCommon RS RISN_XLRS:c.293C>A protEffect p.Ala98Glu RISN_XLRS:c.301G>C commonName Ala 101 Pro RISN_XLRS:c.301G>C phenoCommon RS RISN_XLRS:c.301G>C protEffect p.Ala101Pro RISN_XLRS:c.301delG commonName 301delG RISN_XLRS:c.301delG phenoCommon RS RISN_XLRS:c.304C>T commonName Arg 102 Trp RISN_XLRS:c.304C>T phenoCommon RS RISN_XLRS:c.304C>T protEffect p.Arg102Trp RISN_XLRS:c.305G>A commonName Arg 102 Gln RISN_XLRS:c.305G>A phenoCommon RS RISN_XLRS:c.305G>A protEffect p.Arg102Gln RISN_XLRS:c.308T>G commonName Leu 103 Arg RISN_XLRS:c.308T>G phenoCommon RS RISN_XLRS:c.308T>G protEffect p.Leu103Arg RISN_XLRS:c.312C>G commonName Asn 104 Lys RISN_XLRS:c.312C>G phenoCommon RS RISN_XLRS:c.312C>G protEffect p.Asn104Lys RISN_XLRS:c.317dupA commonName 317insA RISN_XLRS:c.317dupA phenoCommon RS RISN_XLRS:c.323T>G commonName Phe 108 Cys RISN_XLRS:c.323T>G phenoCommon RS RISN_XLRS:c.323T>G protEffect p.Phe108Cys RISN_XLRS:c.325G>T commonName Gly 109 Trp RISN_XLRS:c.325G>T phenoCommon RS RISN_XLRS:c.325G>T protEffect p.Gly109Trp RISN_XLRS:c.325G>C commonName Gly 109 Arg RISN_XLRS:c.325G>C phenoCommon RS RISN_XLRS:c.325G>C protEffect p.Gly109Arg RISN_XLRS:c.326G>A commonName Gly 109 Glu RISN_XLRS:c.326G>A phenoCommon RS RISN_XLRS:c.326G>A protEffect p.Gly109Glu RISN_XLRS:c.326+1G>A commonName IVS4+1g>a RISN_XLRS:c.326+1G>A phenoCommon RS RISN_XLRS:c.329G>A commonName Cys 110 Tyr RISN_XLRS:c.329G>A phenoCommon RS RISN_XLRS:c.329G>A protEffect p.Cys110Tyr RISN_XLRS:c.330T>C commonName Cys 110 Cys RISN_XLRS:c.330T>C protEffect p.Cys110Cys RISN_XLRS:c.330T>A commonName Cys 110 ter RISN_XLRS:c.330T>A phenoCommon RS RISN_XLRS:c.330T>A protEffect p.Cys110X RISN_XLRS:c.336G>C commonName Trp 112 Cys RISN_XLRS:c.336G>C phenoCommon RS RISN_XLRS:c.336G>C protEffect p.Trp112Cys RISN_XLRS:c.336G>T commonName Trp 112 Cys RISN_XLRS:c.336G>T phenoCommon RS RISN_XLRS:c.336G>T protEffect p.Trp112Cys RISN_XLRS:c.337C>T commonName Leu 113 Phe RISN_XLRS:c.337C>T phenoCommon RS RISN_XLRS:c.337C>T protEffect p.Leu113Phe RISN_XLRS:c.349_350insT commonName 350insT RISN_XLRS:c.349_350insT phenoCommon RS RISN_XLRS:c.366G>C commonName Trp 122 Cys RISN_XLRS:c.366G>C phenoCommon RS RISN_XLRS:c.366G>C protEffect p.Trp122Cys RISN_XLRS:c.375_378delAGAT commonName 375delAGAT RISN_XLRS:c.375_378delAGAT phenoCommon RS RISN_XLRS:c.380T>C commonName Leu 127 Pro RISN_XLRS:c.380T>C phenoCommon RS RISN_XLRS:c.380T>C protEffect p.Leu127Pro RISN_XLRS:c.392_393delAA commonName 392delAA RISN_XLRS:c.392_393delAA phenoCommon RS RISN_XLRS:c.397A>T commonName Ile 133 Phe RISN_XLRS:c.397A>T phenoCommon RS RISN_XLRS:c.397A>T protEffect p.Ile133Phe RISN_XLRS:c.404G>T commonName Gly 135 Val RISN_XLRS:c.404G>T phenoCommon RS RISN_XLRS:c.404G>T protEffect p.Gly135Val RISN_XLRS:c.407T>C commonName Ile 136 Thr RISN_XLRS:c.407T>C phenoCommon RS RISN_XLRS:c.407T>C protEffect p.Ile136Thr RISN_XLRS:c.412A>G commonName Thr 138 Ala RISN_XLRS:c.412A>G phenoCommon RS RISN_XLRS:c.412A>G protEffect p.Thr138Ala RISN_XLRS:c.416delA commonName 416delA RISN_XLRS:c.416delA phenoCommon RS RISN_XLRS:c.418G>A commonName Gly 140 Arg RISN_XLRS:c.418G>A phenoCommon RS RISN_XLRS:c.418G>A protEffect p.Gly140Arg RISN_XLRS:c.419G>A commonName Gly 140 Glu RISN_XLRS:c.419G>A phenoCommon RS RISN_XLRS:c.419G>A protEffect p.Gly140Glu RISN_XLRS:c.421C>T commonName Arg 141 Cys RISN_XLRS:c.421C>T phenoCommon RS RISN_XLRS:c.421C>T protEffect p.Arg141Cys RISN_XLRS:c.421C>G commonName Arg 141 Gly RISN_XLRS:c.421C>G phenoCommon RS RISN_XLRS:c.421C>G protEffect p.Arg141Gly RISN_XLRS:c.422G>A commonName Arg 141 His RISN_XLRS:c.422G>A phenoCommon RS RISN_XLRS:c.422G>A protEffect p.Arg141His RISN_XLRS:c.426T>C commonName Cys 142 Cys RISN_XLRS:c.426T>C protEffect p.Cys142Cys RISN_XLRS:c.426_427delTG commonName 426delTG RISN_XLRS:c.426_427delTG phenoCommon RS RISN_XLRS:c.426T>G commonName Cys 142 Trp RISN_XLRS:c.426T>G phenoCommon RS RISN_XLRS:c.426T>G protEffect p.Cys142Trp RISN_XLRS:c.428A>T commonName Asp 143 Val RISN_XLRS:c.428A>T phenoCommon RS RISN_XLRS:c.428A>T protEffect p.Asp143Val RISN_XLRS:c.436G>A commonName Glu 146 Lys RISN_XLRS:c.436G>A phenoCommon RS RISN_XLRS:c.436G>A protEffect p.Glu146Lys RISN_XLRS:c.438G>C commonName Glu 146 Asp RISN_XLRS:c.438G>C phenoCommon RS RISN_XLRS:c.438G>C protEffect p.Glu146Asp RISN_XLRS:c.460C>T commonName Gln 154 ter RISN_XLRS:c.460C>T phenoCommon RS RISN_XLRS:c.460C>T protEffect p.Gln154X RISN_XLRS:c.464A>G commonName Tyr 155 Cys RISN_XLRS:c.464A>G phenoCommon RS RISN_XLRS:c.464A>G protEffect p.Tyr155Cys RISN_XLRS:c.472G>A commonName Asp 158 Asn RISN_XLRS:c.472G>A protEffect p.Asp158Asn RISN_XLRS:c.489G>A commonName Trp 163 ter RISN_XLRS:c.489G>A phenoCommon RS RISN_XLRS:c.489G>A protEffect p.Trp163X RISN_XLRS:c.489G>T commonName Trp 163 Cys RISN_XLRS:c.489G>T phenoCommon RS RISN_XLRS:c.489G>T protEffect p.Trp163Cys RISN_XLRS:c.499A>T commonName Lys 167 ter RISN_XLRS:c.499A>T phenoCommon RS RISN_XLRS:c.499A>T protEffect p.Lys167X RISN_XLRS:c.501G>C commonName Lys 167 Asn RISN_XLRS:c.501G>C phenoCommon RS RISN_XLRS:c.501G>C protEffect p.Lys167Asn RISN_XLRS:c.522+5G>A commonName IVS5+5g>a RISN_XLRS:c.522+5G>A phenoCommon RS RISN_XLRS:c.522+1G>T commonName IVS5+1g>t RISN_XLRS:c.522+1G>T phenoCommon RS RISN_XLRS:c.522+1G>A commonName IVS5+1g>a RISN_XLRS:c.522+1G>A phenoCommon RS RISN_XLRS:c.523-2A>G commonName IVS5-2a>g RISN_XLRS:c.523-2A>G phenoCommon RS RISN_XLRS:c.533G>A commonName Gly 178 Asp RISN_XLRS:c.533G>A phenoCommon RS RISN_XLRS:c.533G>A protEffect p.Gly178Asp RISN_XLRS:c.535A>G commonName Asn 179 Asp RISN_XLRS:c.535A>G phenoCommon RS RISN_XLRS:c.535A>G protEffect p.Asn179Asp RISN_XLRS:c.544C>T commonName Arg 182 Cys RISN_XLRS:c.544C>T phenoCommon RS RISN_XLRS:c.544C>T protEffect p.Arg182Cys RISN_XLRS:c.548_549insCC commonName 549insCC RISN_XLRS:c.548_549insCC phenoCommon RS RISN_XLRS:c.554C>T commonName Thr 185 Lys RISN_XLRS:c.554C>T phenoCommon RS RISN_XLRS:c.554C>T protEffect p.Thr185Lys RISN_XLRS:c.574C>T commonName Pro 192 Ser RISN_XLRS:c.574C>T phenoCommon RS RISN_XLRS:c.574C>T protEffect p.Pro192Ser RISN_XLRS:c.574C>A commonName Pro 192 Thr RISN_XLRS:c.574C>A phenoCommon RS RISN_XLRS:c.574C>A protEffect p.Pro192Thr RISN_XLRS:c.575C>G commonName Pro 192 Arg RISN_XLRS:c.575C>G phenoCommon RS RISN_XLRS:c.575C>G protEffect p.Pro192Arg RISN_XLRS:c.576_577insT commonName 577insT RISN_XLRS:c.576_577insT phenoCommon RS RISN_XLRS:c.577C>T commonName Pro 193 Ser RISN_XLRS:c.577C>T phenoCommon RS RISN_XLRS:c.577C>T protEffect p.Pro193Ser RISN_XLRS:c.578C>T commonName Pro 193 Leu RISN_XLRS:c.578C>T phenoCommon RS RISN_XLRS:c.578C>T protEffect p.Pro193Leu RISN_XLRS:c.579dupC commonName 579insC RISN_XLRS:c.579dupC phenoCommon RS RISN_XLRS:c.589C>T commonName Arg 197 Cys RISN_XLRS:c.589C>T phenoCommon RS RISN_XLRS:c.589C>T protEffect p.Arg197Cys RISN_XLRS:c.590G>C commonName Arg 197 Pro RISN_XLRS:c.590G>C phenoCommon RS RISN_XLRS:c.590G>C protEffect p.Arg197Pro RISN_XLRS:c.590G>A commonName Arg 197 His RISN_XLRS:c.590G>A phenoCommon RS RISN_XLRS:c.590G>A protEffect p.Arg197His RISN_XLRS:c.596T>C commonName Ile 199 Thr RISN_XLRS:c.596T>C phenoCommon RS RISN_XLRS:c.596T>C protEffect p.Ile199Thr RISN_XLRS:c.598C>T commonName Arg 200 Cys RISN_XLRS:c.598C>T phenoCommon RS RISN_XLRS:c.598C>T protEffect p.Arg200Cys RISN_XLRS:c.599G>A commonName Arg 200 His RISN_XLRS:c.599G>A phenoCommon RS RISN_XLRS:c.599G>A protEffect p.Arg200His RISN_XLRS:c.606C>T commonName Ile 202 Ile RISN_XLRS:c.606C>T protEffect p.Ile202Ile RISN_XLRS:c.608C>T commonName Pro 203 Leu RISN_XLRS:c.608C>T phenoCommon RS RISN_XLRS:c.608C>T protEffect p.Pro203Leu RISN_XLRS:c.618G>A commonName Trp 206 ter RISN_XLRS:c.618G>A phenoCommon RS RISN_XLRS:c.618G>A protEffect p.Trp206X RISN_XLRS:c.621C>G commonName His 207 Gln RISN_XLRS:c.621C>G phenoCommon RS RISN_XLRS:c.621C>G protEffect p.His207Gln RISN_XLRS:c.625C>T commonName Arg 209 Cys RISN_XLRS:c.625C>T phenoCommon RS RISN_XLRS:c.625C>T protEffect p.Arg209Cys RISN_XLRS:c.625C>G commonName Pro 209 Gly RISN_XLRS:c.625C>G phenoCommon RS RISN_XLRS:c.625C>G protEffect p.Pro209Gly RISN_XLRS:c.626G>A commonName Arg 209 His RISN_XLRS:c.626G>A phenoCommon RS RISN_XLRS:c.626G>A protEffect p.Arg209His RISN_XLRS:c.631G>A commonName Ala 211 Thr RISN_XLRS:c.631G>A phenoCommon RS RISN_XLRS:c.631G>A protEffect p.Ala211Thr RISN_XLRS:c.638G>A commonName Arg 213 Gln RISN_XLRS:c.638G>A phenoCommon RS RISN_XLRS:c.638G>A protEffect p.Arg213Gln RISN_XLRS:c.637C>T commonName Arg 213 Trp RISN_XLRS:c.637C>T phenoCommon RS RISN_XLRS:c.637C>T protEffect p.Arg213Trp RISN_XLRS:c.639delG commonName 639delG RISN_XLRS:c.639delG phenoCommon RS RISN_XLRS:c.643G>A commonName Glu 215 Lys RISN_XLRS:c.643G>A phenoCommon RS RISN_XLRS:c.643G>A protEffect p.Glu215Lys RISN_XLRS:c.643G>C commonName Glu 215 Gln RISN_XLRS:c.643G>C phenoCommon RS RISN_XLRS:c.643G>C protEffect p.Glu215Gln RISN_XLRS:c.647T>C commonName Leu 216 Pro RISN_XLRS:c.647T>C phenoCommon RS RISN_XLRS:c.647T>C protEffect p.Leu216Pro RISN_XLRS:c.655T>C commonName Cys 219 Arg RISN_XLRS:c.655T>C phenoCommon RS RISN_XLRS:c.655T>C protEffect p.Cys219Arg RISN_XLRS:c.655T>G commonName Cys 219 Gly RISN_XLRS:c.655T>G phenoCommon RS RISN_XLRS:c.655T>G protEffect p.Cys219Gly RISN_XLRS:c.655delT commonName 655delT RISN_XLRS:c.655delT phenoCommon RS RISN_XLRS:c.655_679del commonName 655del25bp RISN_XLRS:c.655_679del phenoCommon RS RISN_XLRS:c.666G>C commonName Lys 222 Asn RISN_XLRS:c.666G>C protEffect p.Lys222Asn RISN_XLRS:c.675*3C>T commonName 678c/t RISN_TYR:c.(?_1)_(819_?)del commonName Deletion Exon1 RISN_TYR:c.(?_1)_(819_?)del phenoCommon OCA1A RISN_TYR:c.1A>G commonName Met 1 Val RISN_TYR:c.1A>G phenoCommon AROA RISN_TYR:c.1A>G protEffect p.Met1Val RISN_TYR:c.2T>C commonName Met 1 Thr RISN_TYR:c.2T>C phenoCommon OCA1A RISN_TYR:c.2T>C protEffect p.Met1Thr RISN_TYR:c.24delC commonName 24delC RISN_TYR:c.24delC phenoCommon OCA1B RISN_TYR:c.52delG commonName 52delG RISN_TYR:c.52delG phenoCommon OCA1A RISN_TYR:c.57T>A commonName His 19 Gln RISN_TYR:c.57T>A phenoCommon OCA1A RISN_TYR:c.57T>A protEffect p.His19Gln RISN_TYR:c.61C>T commonName Pro 21 Ser RISN_TYR:c.61C>T phenoCommon OCA1A RISN_TYR:c.61C>T protEffect p.Pro21Ser RISN_TYR:c.107G>A commonName Cys 36 Tyr RISN_TYR:c.107G>A phenoCommon OCA1 RISN_TYR:c.107G>A protEffect p.Cys36Tyr RISN_TYR:c.125A>G commonName Asp 42 Gly RISN_TYR:c.125A>G phenoCommon OCA1A RISN_TYR:c.125A>G protEffect p.Asp42Gly RISN_TYR:c.140G>A commonName Gly 47 Asp RISN_TYR:c.140G>A phenoCommon OCA1A RISN_TYR:c.140G>A protEffect p.Gly47Asp RISN_TYR:c.149C>G commonName Ser 50 ter RISN_TYR:c.149C>G phenoCommon OCA1A RISN_TYR:c.149C>G protEffect p.Ser50X RISN_TYR:c.155G>T commonName Arg 52 Ile RISN_TYR:c.155G>T phenoCommon OCA1A RISN_TYR:c.155G>T protEffect p.Arg52Ile RISN_TYR:c.164G>A commonName Cys 55 Tyr RISN_TYR:c.164G>A phenoCommon AROA RISN_TYR:c.164G>A protEffect p.Cys55Tyr RISN_TYR:c.222delG commonName 223delG RISN_TYR:c.222delG phenoCommon OCA1B RISN_TYR:c.229C>T commonName Arg 77 Trp RISN_TYR:c.229C>T phenoCommon OCA2 RISN_TYR:c.229C>T protEffect p.Arg77Trp RISN_TYR:c.230G>A commonName Arg 77 Gln RISN_TYR:c.230G>A phenoCommon OCA2 RISN_TYR:c.230G>A protEffect p.Arg77Gln RISN_TYR:c.232G>T commonName Glu 78 ter RISN_TYR:c.232G>T phenoCommon OCA1B RISN_TYR:c.232G>T protEffect p.Glu78X RISN_TYR:c.231_232insGGG commonName 232insGGG RISN_TYR:c.231_232insGGG phenoCommon OCA1 RISN_TYR:c.238T>C commonName Trp 80 Arg RISN_TYR:c.238T>C phenoCommon OCA1A RISN_TYR:c.238T>C protEffect p.Trp80Arg RISN_TYR:c.240G>A commonName Trp 80 ter RISN_TYR:c.240G>A phenoCommon OCA1A RISN_TYR:c.240G>A protEffect p.Trp80X RISN_TYR:c.242C>T commonName Pro 81 Leu RISN_TYR:c.242C>T phenoCommon OCA1A RISN_TYR:c.242C>T protEffect p.Pro81Leu RISN_TYR:c.265T>C commonName Cys 89 Arg RISN_TYR:c.265T>C phenoCommon OCA1 RISN_TYR:c.265T>C protEffect p.Cys89Arg RISN_TYR:c.286dupA commonName 286insA RISN_TYR:c.286dupA phenoCommon OCA1A RISN_TYR:c.289G>A commonName Gly 97 Arg RISN_TYR:c.289G>A phenoCommon OCA1A RISN_TYR:c.289G>A protEffect p.Gly97Arg RISN_TYR:c.325G>A commonName Gly 109 Arg RISN_TYR:c.325G>A phenoCommon OCA RISN_TYR:c.325G>A protEffect p.Gly109Arg RISN_TYR:c.336_337delCA commonName 336delCA RISN_TYR:c.336_337delCA phenoCommon OCA RISN_TYR:c.340_341delGA commonName 340delGA RISN_TYR:c.340_341delGA phenoCommon OCA1A RISN_TYR:c.346C>T commonName Arg 116 ter RISN_TYR:c.346C>T phenoCommon OCA1A RISN_TYR:c.346C>T protEffect p.Arg116X RISN_TYR:c.456C>T commonName Pro 152 Ser RISN_TYR:c.456C>T phenoCommon OCA1 RISN_TYR:c.456C>T protEffect p.Pro152Ser RISN_TYR:c.458_459insT commonName 459insT RISN_TYR:c.458_459insT phenoCommon OCA1 RISN_TYR:c.526T>A commonName Phe 176 Ile RISN_TYR:c.526T>A phenoCommon OCA1 RISN_TYR:c.526T>A protEffect p.Phe176Ile RISN_TYR:c.533G>A commonName Trp 178 ter RISN_TYR:c.533G>A phenoCommon OCA1 RISN_TYR:c.533G>A protEffect p.Trp178X RISN_TYR:c.568delG commonName 571delG RISN_TYR:c.568delG phenoCommon OCA1A RISN_TYR:c.575C>A commonName Ser 192 Tyr RISN_TYR:c.575C>A protEffect p.Ser192Tyr RISN_TYR:c.613C>A commonName Pro 205 Thr RISN_TYR:c.613C>A phenoCommon OCA RISN_TYR:c.613C>A protEffect p.Pro205Thr RISN_TYR:c.616G>A commonName Ala 206 Thr RISN_TYR:c.616G>A phenoCommon OCA1 RISN_TYR:c.616G>A protEffect p.Ala206Thr RISN_TYR:c.646T>A commonName Leu 216 Met RISN_TYR:c.646T>A phenoCommon OCA1 RISN_TYR:c.646T>A protEffect p.Leu216Met RISN_TYR:c.649delC commonName 649delC RISN_TYR:c.649delC phenoCommon OCA RISN_TYR:c.649C>G commonName Arg 217 Gly RISN_TYR:c.649C>G phenoCommon OCA1A RISN_TYR:c.649C>G protEffect p.Arg217Gly RISN_TYR:c.649C>T commonName Arg 217 Trp RISN_TYR:c.649C>T phenoCommon OCA2 RISN_TYR:c.649C>T protEffect p.Arg217Trp RISN_TYR:c.650G>A commonName Arg 217 Gln RISN_TYR:c.650G>A phenoCommon OCA1 RISN_TYR:c.650G>A protEffect p.Arg217Gln RISN_TYR:c.678_680delAGG commonName 678delAGG RISN_TYR:c.678_680delAGG phenoCommon OCA RISN_TYR:c.707G>A commonName Trp 236 ter RISN_TYR:c.707G>A phenoCommon OCA1 RISN_TYR:c.707G>A protEffect p.Trp236X RISN_TYR:c.707G>C commonName Trp 236 Ser RISN_TYR:c.707G>C phenoCommon OCA1 RISN_TYR:c.707G>C protEffect p.Trp236Ser RISN_TYR:c.730_731delTG commonName 730delTG RISN_TYR:c.730_731delTG phenoCommon OCA1A RISN_TYR:c.757G>A commonName Gly 253 Arg RISN_TYR:c.757G>A phenoCommon OCA1A RISN_TYR:c.757G>A protEffect p.Gly253Arg RISN_TYR:c.766C>T commonName His 256 Tyr RISN_TYR:c.766C>T phenoCommon OCA RISN_TYR:c.766C>T protEffect p.His256Tyr RISN_TYR:c.816G>C commonName Trp 272 Cys RISN_TYR:c.816G>C phenoCommon OCA1 RISN_TYR:c.816G>C protEffect p.Trp272Cys RISN_TYR:c.820-3C>G commonName IVS1-3c-g RISN_TYR:c.820-3C>G phenoCommon OCA1 RISN_TYR:c.823G>T commonName Val 275 Phe RISN_TYR:c.823G>T phenoCommon OCA1 RISN_TYR:c.823G>T protEffect p.Val275Phe RISN_TYR:c.832C>T commonName Arg 278 ter RISN_TYR:c.832C>T phenoCommon OCA1 RISN_TYR:c.832C>T protEffect p.Arg278X RISN_TYR:c.840delG commonName 840delG RISN_TYR:c.840delG phenoCommon OCA1 RISN_TYR:c.875C>T commonName Cys 289 Arg RISN_TYR:c.875C>T phenoCommon OCA1A RISN_TYR:c.875C>T protEffect p.Cys289Arg RISN_TYR:c.891A>G commonName Glu 294 Gly RISN_TYR:c.891A>G phenoCommon OCA1 RISN_TYR:c.891A>G protEffect p.Glu294Gly RISN_TYR:c.895C>A commonName Arg 299 Ser RISN_TYR:c.895C>A phenoCommon OCA1 RISN_TYR:c.895C>A protEffect p.Arg299Ser RISN_TYR:c.896G>A commonName Arg 299 His RISN_TYR:c.896G>A phenoCommon OCA1A RISN_TYR:c.896G>A protEffect p.Arg299His RISN_TYR:c.926dupC commonName 926insC RISN_TYR:c.926dupC phenoCommon OCA1A RISN_TYR:c.934C>G commonName Leu 312 Val RISN_TYR:c.934C>G phenoCommon OCA1A RISN_TYR:c.934C>G protEffect p.Leu312Val RISN_TYR:c.938C>G commonName Pro 313 Arg RISN_TYR:c.938C>G phenoCommon OCA1A RISN_TYR:c.938C>G protEffect p.Pro313Arg RISN_TYR:c.973A>G commonName Thr 325 Ala RISN_TYR:c.973A>G phenoCommon OCA1B RISN_TYR:c.973A>G protEffect p.Thr325Ala RISN_TYR:c.982G>C commonName Glu 328 Gln RISN_TYR:c.982G>C phenoCommon OCA1 RISN_TYR:c.982G>C protEffect p.Glu328Gln RISN_TYR:c.1015A>G commonName Ser 339 Gly RISN_TYR:c.1015A>G phenoCommon OCA1A RISN_TYR:c.1015A>G protEffect p.Ser339Gly RISN_TYR:c.1018T>C commonName Phe 340 Leu RISN_TYR:c.1018T>C phenoCommon OCA1B RISN_TYR:c.1018T>C protEffect p.Phe340Leu RISN_TYR:c.1037-7T>A commonName IVS2-7t-a RISN_TYR:c.1037-7T>A phenoCommon OCA1B RISN_TYR:c.1037-1G>A commonName IVS2-1g-a RISN_TYR:c.1037-1G>A phenoCommon OCA1B RISN_TYR:c.1063G>C commonName Ala 355 Pro RISN_TYR:c.1063G>C phenoCommon OCA1B RISN_TYR:c.1063G>C protEffect p.Ala355Pro RISN_TYR:c.1075C>T commonName Gln 359 ter RISN_TYR:c.1075C>T phenoCommon OCA1A RISN_TYR:c.1075C>T protEffect p.Gln359X RISN_TYR:c.1081A>C commonName Ser 361 Arg RISN_TYR:c.1081A>C phenoCommon OCA1A RISN_TYR:c.1081A>C protEffect p.Ser361Arg RISN_TYR:c.1100A>G commonName His 367 Arg RISN_TYR:c.1100A>G phenoCommon OCA1A RISN_TYR:c.1100A>G protEffect p.His367Arg RISN_TYR:c.1109T>C commonName Met 370 Thr RISN_TYR:c.1109T>C phenoCommon OCA1 RISN_TYR:c.1109T>C protEffect p.Met370Thr RISN_TYR:c.1111A>T commonName Asn 371 Tyr RISN_TYR:c.1111A>T phenoCommon OCA1A RISN_TYR:c.1111A>T protEffect p.Asn371Tyr RISN_TYR:c.1112A>C commonName Asn 371 Thr RISN_TYR:c.1112A>C phenoCommon OCA1A RISN_TYR:c.1112A>C protEffect p.Asn371Thr RISN_TYR:c.1118C>A commonName Thr 373 Lys RISN_TYR:c.1118C>A phenoCommon OCA1A RISN_TYR:c.1118C>A protEffect p.Thr373Lys RISN_TYR:c.1126C>T commonName Gln 376 ter RISN_TYR:c.1126C>T phenoCommon OCA1A RISN_TYR:c.1126C>T protEffect p.Gln376X RISN_TYR:c.1132C>T commonName Gln 378 ter RISN_TYR:c.1132C>T phenoCommon OCA1A RISN_TYR:c.1132C>T protEffect p.Gln378X RISN_TYR:c.1138T>C commonName Ser 380 Pro RISN_TYR:c.1138T>C phenoCommon OCA1B RISN_TYR:c.1138T>C protEffect p.Ser380Pro RISN_TYR:c.1146C>A commonName Asn 382 Lys RISN_TYR:c.1146C>A phenoCommon OCA1A RISN_TYR:c.1146C>A protEffect p.Asn382Lys RISN_TYR:c.1147G>A commonName Asp 383 Asn RISN_TYR:c.1147G>A phenoCommon OCA1A RISN_TYR:c.1147G>A protEffect p.Asp383Asn RISN_TYR:c.1160delT commonName 1161delT RISN_TYR:c.1160delT phenoCommon OCA1A RISN_TYR:c.1163delT commonName 1163delT RISN_TYR:c.1163delT phenoCommon OCA2 RISN_TYR:c.1168C>G commonName His 390 Asp RISN_TYR:c.1168C>G phenoCommon OCA1B RISN_TYR:c.1168C>G protEffect p.His390Asp RISN_TYR:c.1183A>G commonName Ser 395 Asp RISN_TYR:c.1183A>G phenoCommon OCA1A RISN_TYR:c.1183A>G protEffect p.Ser395Asp RISN_TYR:c.1199G>T commonName Trp 400 Leu RISN_TYR:c.1199G>T phenoCommon OCA1 RISN_TYR:c.1199G>T protEffect p.Trp400Leu RISN_TYR:c.1204C>T commonName Arg 402 ter RISN_TYR:c.1204C>T phenoCommon OCA1A RISN_TYR:c.1204C>T protEffect p.Arg402X RISN_TYR:c.1205G>A commonName Arg 402 Gln RISN_TYR:c.1205G>A protEffect p.Arg402Gln RISN_TYR:c.1209G>T commonName Arg 403 Ser RISN_TYR:c.1209G>T phenoCommon OCA1B RISN_TYR:c.1209G>T protEffect p.Arg403Ser RISN_TYR:c.1211A>C commonName His 404 Pro RISN_TYR:c.1211A>C phenoCommon OCA1A RISN_TYR:c.1211A>C protEffect p.His404Pro RISN_TYR:c.1217C>T commonName Pro 406 Leu RISN_TYR:c.1217C>T phenoCommon OCA1B RISN_TYR:c.1217C>T protEffect p.Pro406Leu RISN_TYR:c.1255G>A commonName Gly 419 Arg RISN_TYR:c.1255G>A phenoCommon OCA1A RISN_TYR:c.1255G>A protEffect p.Gly419Arg RISN_TYR:c.1265G>A commonName Arg 422 Gln RISN_TYR:c.1265G>A phenoCommon OCA1TS RISN_TYR:c.1265G>A protEffect p.Arg422Gln RISN_TYR:c.1292C>T commonName Pro 431 Leu RISN_TYR:c.1292C>T phenoCommon OCA1A RISN_TYR:c.1292C>T protEffect p.Pro431Leu RISN_TYR:c.1314_1317delCTTT commonName 1314delCTTT RISN_TYR:c.1314_1317delCTTT phenoCommon OCA1A RISN_TYR:c.1315T>G commonName Phe 439 Val RISN_TYR:c.1315T>G phenoCommon OCA1 RISN_TYR:c.1315T>G protEffect p.Phe439Val RISN_TYR:c.1336G>A commonName Gly 446 Ser RISN_TYR:c.1336G>A phenoCommon OCA1A RISN_TYR:c.1336G>A protEffect p.Gly446Ser RISN_TYR:c.1342G>A commonName Asp 448 Asn RISN_TYR:c.1342G>A phenoCommon OCA1A RISN_TYR:c.1342G>A protEffect p.Asp448Asn RISN_TYR:c.1357C>T commonName Gln 453 ter RISN_TYR:c.1357C>T phenoCommon OCA1A RISN_TYR:c.1357C>T protEffect p.Gln453X RISN_TYR:c.1366+5A>G commonName IVS4+5a-g RISN_TYR:c.1366+5A>G phenoCommon OCA1B RISN_TYR:c.1366+4A>G commonName IVS4+4a-g RISN_TYR:c.1366+4A>G phenoCommon OCA1B RISN_TYR:c.1467dupT commonName 1467insT RISN_TYR:c.1467dupT phenoCommon OCA1A RISN_TYR:c.1501dupC commonName 1501insC RISN_TYR:c.1501dupC phenoCommon OCA1A RISN_TYR:c.-301C>T commonName -301c/t RISN_TYR:c.-199C>A commonName -199c/a RISN_TYR:c.-658delC commonName -658del c RISN_TYR:c.-683_-682insG commonName -682ins g RISN_TYR:c.-692_-691insC commonName -691ins c RISN_TYR:c.-802_-801insGAGAGGGAGA commonName -801ins gagagggaga RISN_RDS:c.2T>C commonName Met 1 Thr RISN_RDS:c.2T>C phenoCommon Adult vitelliform macular dystrophy RISN_RDS:c.2T>C protEffect p.Met1Thr RISN_RDS:c.37C>T commonName Arg 13 Trp RISN_RDS:c.37C>T phenoCommon Digenic RP RISN_RDS:c.37C>T protEffect p.Arg13Trp RISN_RDS:c.37C>A commonName Arg 13 Trp RISN_RDS:c.37C>A phenoCommon ADRP RISN_RDS:c.37C>A protEffect p.Arg13Trp RISN_RDS:c.73_74delTG commonName 73delTG RISN_RDS:c.73_74delTG phenoCommon Retinitis punctata albescens, ad RISN_RDS:c.80C>T commonName Ser 27 Phe RISN_RDS:c.80C>T phenoCommon COD RISN_RDS:c.80C>T protEffect p.Ser27Phe RISN_RDS:c.94A>G commonName Ile 32 Val RISN_RDS:c.94A>G phenoCommon Age related macular dystrophy RISN_RDS:c.94A>G protEffect p.Ile32Val RISN_RDS:c.96_97insC commonName 97insC RISN_RDS:c.96_97insC phenoCommon ADRP RISN_RDS:c.113delG commonName 113delG RISN_RDS:c.113delG phenoCommon Adult Onset Foveomacular Dystrophy RISN_RDS:c.133C>T commonName Leu 45 Phe RISN_RDS:c.133C>T phenoCommon Digenic RP RISN_RDS:c.133C>T protEffect p.Leu45Phe RISN_RDS:c.136C>T commonName Arg 46 ter RISN_RDS:c.136C>T phenoCommon Diffuse retinal degeneration RISN_RDS:c.136C>T protEffect p.Arg46X RISN_RDS:c.198_202delinsAAGACAGA commonName 198GATGG>AAGACAGA RISN_RDS:c.198_202delinsAAGACAGA phenoCommon ADRP RISN_RDS:c.199_201delATG commonName 199delATG RISN_RDS:c.199_201delATG phenoCommon Pattern dystrophy RISN_RDS:c.202G>A commonName Gly 68 Arg RISN_RDS:c.202G>A phenoCommon ADRP RISN_RDS:c.202G>A protEffect p.Gly68Arg RISN_RDS:c.249C>T commonName Tyr 83 Tyr RISN_RDS:c.249C>T protEffect p.Tyr83Tyr RISN_RDS:c.303C>T commonName Tyr 101 Tyr RISN_RDS:c.303C>T protEffect p.Tyr101Tyr RISN_RDS:c.318C>T commonName Val 106 Val RISN_RDS:c.318C>T protEffect p.Val106Val RISN_RDS:c.355_357delTGC commonName 355delTGC RISN_RDS:c.355_357delTGC phenoCommon ADRP RISN_RDS:c.371delG commonName 371delG RISN_RDS:c.371delG phenoCommon CRD RISN_RDS:c.376C>G commonName Leu 126 Arg RISN_RDS:c.376C>G phenoCommon ADRP RISN_RDS:c.376C>G protEffect p.Leu126Arg RISN_RDS:c.421T>C commonName Tyr 141 His RISN_RDS:c.421T>C phenoCommon ADRP RISN_RDS:c.421T>C protEffect p.Tyr141His RISN_RDS:c.422A>G commonName Tyr 141 Cys RISN_RDS:c.422A>G phenoCommon ADRP RISN_RDS:c.422A>G protEffect p.Tyr141Cys RISN_RDS:c.423_424insTACT commonName 424insTACT RISN_RDS:c.423_424insTACT phenoCommon Pattern dystrophy RISN_RDS:c.424C>T commonName Arg 142 Trp RISN_RDS:c.424C>T phenoCommon CACD RISN_RDS:c.424C>T protEffect p.Arg142Trp RISN_RDS:c.441delT commonName 441delT RISN_RDS:c.441delT phenoCommon CACD RISN_RDS:c.458A>G commonName Lys 153 Arg RISN_RDS:c.458A>G phenoCommon ADRP RISN_RDS:c.458A>G protEffect p.Lys153Arg RISN_RDS:c.460_462delAAG commonName 460delAAG RISN_RDS:c.460_462delAAG phenoCommon Fundus flavimaculatus RISN_RDS:c.469G>A commonName Asp 157 Asn RISN_RDS:c.469G>A phenoCommon Pattern dystrophy RISN_RDS:c.469G>A protEffect p.Asp157Asn RISN_RDS:c.494G>A commonName Cys 165 Tyr RISN_RDS:c.494G>A phenoCommon ADRP RISN_RDS:c.494G>A protEffect p.Cys165Tyr RISN_RDS:c.500G>A commonName Gly 167 Asp RISN_RDS:c.500G>A phenoCommon Butterfly shaped pigment dystrophy RISN_RDS:c.500G>A protEffect p.Gly167Asp RISN_RDS:c.505_507delAAC commonName 505delAAC RISN_RDS:c.505_507delAAC phenoCommon MD RISN_RDS:c.508G>A commonName Gly 170 Ser RISN_RDS:c.508G>A phenoCommon CRD RISN_RDS:c.508G>A protEffect p.Gly170Ser RISN_RDS:c.514C>G commonName Arg 172 Gly RISN_RDS:c.514C>G phenoCommon CACD RISN_RDS:c.514C>G protEffect p.Arg172Gly RISN_RDS:c.514C>T commonName Arg 172 Trp RISN_RDS:c.514C>T phenoCommon MD RISN_RDS:c.514C>T protEffect p.Arg172Trp RISN_RDS:c.515G>A commonName Arg 172 Gln RISN_RDS:c.515G>A phenoCommon MD RISN_RDS:c.515G>A protEffect p.Arg172Gln RISN_RDS:c.518A>T commonName Asp 173 Val RISN_RDS:c.518A>T phenoCommon ADRP RISN_RDS:c.518A>T protEffect p.Asp173Val RISN_RDS:c.533A>G commonName Gln 178 Arg RISN_RDS:c.533A>G phenoCommon RP RISN_RDS:c.533A>G protEffect p.Gln178Arg RISN_RDS:c.535T>C commonName Trp 179 Arg RISN_RDS:c.535T>C phenoCommon ADRP RISN_RDS:c.535T>C protEffect p.Trp179Arg RISN_RDS:c.551A>C commonName Tyr 184 Ser RISN_RDS:c.551A>C phenoCommon Cone-Rod dystrophy RISN_RDS:c.551A>C protEffect p.Tyr184Ser RISN_RDS:c.554T>C commonName Leu 185 Pro RISN_RDS:c.554T>C phenoCommon Digenic RP RISN_RDS:c.554T>C protEffect p.Leu185Pro RISN_RDS:c.577_579delAAA commonName 577delAAA RISN_RDS:c.577_579delAAA phenoCommon Pattern Dystrophy RISN_RDS:c.578_579delAA commonName 578delAA RISN_RDS:c.578_579delAA phenoCommon ADRP RISN_RDS:c.(?_582)_(1038_?)del commonName Microdeletion RISN_RDS:c.(?_582)_(1038_?)del phenoCommon ADRP RISN_RDS:c.584G>T commonName Arg 195 Leu RISN_RDS:c.584G>T phenoCommon CACD RISN_RDS:c.584G>T protEffect p.Arg195Leu RISN_RDS:c.589A>G commonName Lys 197 Glu RISN_RDS:c.589A>G phenoCommon Cone-Rod dystrophy RISN_RDS:c.589A>G protEffect p.Lys197Glu RISN_RDS:c.599T>A commonName Val 200 Glu RISN_RDS:c.599T>A phenoCommon ADRP RISN_RDS:c.599T>A protEffect p.Val200Glu RISN_RDS:c.609_625del commonName 609del17bp RISN_RDS:c.609_625del phenoCommon MD RISN_RDS:c.616_627delGTGGACGGCGTC commonName 616delGTGGACGGCGTC RISN_RDS:c.616_627delGTGGACGGCGTC phenoCommon ADRP RISN_RDS:c.623_624insG commonName 624insG RISN_RDS:c.623_624insG phenoCommon Pattern Dystrophy RISN_RDS:c.628C>T commonName Pro 210 Ser RISN_RDS:c.628C>T phenoCommon ADRP RISN_RDS:c.628C>T protEffect p.Pro210Ser RISN_RDS:c.629C>G commonName Pro 210 Arg RISN_RDS:c.629C>G phenoCommon Foveomacular dystrophy RISN_RDS:c.629C>G protEffect p.Pro210Arg RISN_RDS:c.629C>T commonName Pro 210 Leu RISN_RDS:c.629C>T phenoCommon ADRP RISN_RDS:c.629C>T protEffect p.Pro210Leu RISN_RDS:c.633C>A commonName Phe 211 Leu RISN_RDS:c.633C>A phenoCommon ADRP RISN_RDS:c.633C>A protEffect p.Phe211Leu RISN_RDS:c.634A>G commonName Ser 212 Gly RISN_RDS:c.634A>G phenoCommon ADRP RISN_RDS:c.634A>G protEffect p.Ser212Gly RISN_RDS:c.635G>C commonName Ser 212 Thr RISN_RDS:c.635G>C phenoCommon Adult vitelliform macular dystrophy RISN_RDS:c.635G>C protEffect p.Ser212Thr RISN_RDS:c.637T>C commonName Cys 213 Arg RISN_RDS:c.637T>C phenoCommon Pattern dystrophy RISN_RDS:c.637T>C protEffect p.Cys213Arg RISN_RDS:c.638G>A commonName Cys 213 Tyr RISN_RDS:c.638G>A phenoCommon Pattern dystrophy RISN_RDS:c.638G>A protEffect p.Cys213Tyr RISN_RDS:c.641G>C commonName Cys 214 Ser RISN_RDS:c.641G>C phenoCommon ADRP RISN_RDS:c.641G>C protEffect p.Cys214Ser RISN_RDS:c.641G>A commonName Cys 214 Tyr RISN_RDS:c.641G>A phenoCommon ADRP RISN_RDS:c.641G>A protEffect p.Cys214Tyr RISN_RDS:c.646C>T commonName Pro 216 Ser RISN_RDS:c.646C>T phenoCommon ADRP RISN_RDS:c.646C>T protEffect p.Pro216Ser RISN_RDS:c.647C>T commonName Pro 216 Leu RISN_RDS:c.647C>T phenoCommon ADRP RISN_RDS:c.647C>T protEffect p.Pro216Leu RISN_RDS:c.656_658delCAC commonName 656delCAC RISN_RDS:c.656_658delCAC phenoCommon ADRP RISN_RDS:c.656C>G commonName Pro 219 Arg RISN_RDS:c.656C>G phenoCommon MD RISN_RDS:c.656C>G protEffect p.Pro219Arg RISN_RDS:c.658C>T commonName Arg 220 Trp RISN_RDS:c.658C>T phenoCommon Pattern dystrophy RISN_RDS:c.658C>T protEffect p.Arg220Trp RISN_RDS:c.659G>A commonName Arg 220 Gln RISN_RDS:c.659G>A phenoCommon Pattern dystrophy RISN_RDS:c.659G>A protEffect p.Arg220Gln RISN_RDS:c.672_673ins37 commonName 673ins37bp RISN_RDS:c.672_673ins37 phenoCommon Adult Vitelliform Macular Dystrophy RISN_RDS:c.676C>G commonName Gln 226 Asp RISN_RDS:c.676C>G phenoCommon ADRP RISN_RDS:c.676C>G protEffect p.Gln226Asp RISN_RDS:c.700_701insT commonName 701insT RISN_RDS:c.700_701insT phenoCommon Pattern dystrophy RISN_RDS:c.708C>T commonName Tyr 236 Tyr RISN_RDS:c.708C>T protEffect p.Tyr236Tyr RISN_RDS:c.715C>T commonName Gln 239 ter RISN_RDS:c.715C>T phenoCommon Pattern dystrophy RISN_RDS:c.715C>T protEffect p.Gln239X RISN_RDS:c.730A>C commonName Asn 244 His RISN_RDS:c.730A>C phenoCommon MD RISN_RDS:c.730A>C protEffect p.Asn244His RISN_RDS:c.732C>G commonName Asn 244 Lys RISN_RDS:c.732C>G phenoCommon Cone-Rod dystrophy RISN_RDS:c.732C>G protEffect p.Asn244Lys RISN_RDS:c.732C>A commonName Asn 244 Lys RISN_RDS:c.732C>A phenoCommon ADRP + Bull´s Eye Maculopathy RISN_RDS:c.732C>A protEffect p.Asn244Lys RISN_RDS:c.736T>C commonName Trp 246 Arg RISN_RDS:c.736T>C phenoCommon ADRP RISN_RDS:c.736T>C protEffect p.Trp246Arg RISN_RDS:c.773A>C commonName Tyr 258 ter RISN_RDS:c.773A>C phenoCommon MD RISN_RDS:c.773A>C protEffect p.Tyr258X RISN_RDS:c.797G>A commonName Gly 266 Asp RISN_RDS:c.797G>A phenoCommon ADRP RISN_RDS:c.797G>A protEffect p.Gly266Asp RISN_RDS:c.802G>A commonName Val 268 Ile RISN_RDS:c.802G>A phenoCommon Adult vitelliform macular dystrophy RISN_RDS:c.802G>A protEffect p.Val268Ile RISN_RDS:c.824_825delTC commonName 824delTC RISN_RDS:c.824_825delTC phenoCommon MD RISN_RDS:c.828+21_828+22ins7 commonName IVS2+22ins7bp RISN_RDS:c.828+21_828+22ins7 phenoCommon MD RISN_RDS:c.828+3A>T commonName IVS2+3A>T RISN_RDS:c.828+3A>T phenoCommon Adult dominant retinal degeneration RISN_RDS:c.855C>A commonName Tyr 285 ter RISN_RDS:c.855C>A phenoCommon Pattern Dystrophy RISN_RDS:c.855C>A protEffect p.Tyr285X RISN_RDS:c.866C>T commonName Ser 289 Leu RISN_RDS:c.866C>T phenoCommon Cone Dystrophy RISN_RDS:c.866C>T protEffect p.Ser289Leu RISN_RDS:c.897_898delTG commonName 897delTG RISN_RDS:c.897_898delTG phenoCommon Butterfly shaped pigment dystrophy RISN_RDS:c.904G>T commonName Glu 302 ter RISN_RDS:c.904G>T phenoCommon Pseudovitelliform macular dystrophy RISN_RDS:c.904G>T protEffect p.Glu302X RISN_RDS:c.910G>C commonName Glu 304 Gln RISN_RDS:c.910G>C protEffect p.Glu304Gln RISN_RDS:c.914_922del commonName 914del9bp RISN_RDS:c.914_922del phenoCommon ADRP RISN_RDS:c.914G>A commonName Gly 305 Asp RISN_RDS:c.914G>A phenoCommon Adult vitelliform macular dystrophy RISN_RDS:c.914G>A protEffect p.Gly305Asp RISN_RDS:c.920delT commonName 920delT RISN_RDS:c.920delT phenoCommon ADRP RISN_RDS:c.929A>G commonName Lys 310 Arg RISN_RDS:c.929A>G protEffect p.Lys310Arg RISN_RDS:c.938C>T commonName Pro 313 Leu RISN_RDS:c.938C>T protEffect p.Pro313Leu RISN_RDS:c.947G>A commonName Trp 316 ter RISN_RDS:c.947G>A phenoCommon Adult vitelliform macular dystrophy RISN_RDS:c.947G>A protEffect p.Trp316X RISN_RDS:c.991C>T commonName Gln 331 ter RISN_RDS:c.991C>T phenoCommon Pattern Dystrophy RISN_RDS:c.991C>T protEffect p.Gln331X RISN_RDS:c.1013G>A commonName Gly 338 Asp RISN_RDS:c.1013G>A protEffect p.Gly338Asp RISN_RDS:c.1038*148A>G commonName 1426a/g RISN_RDS:c.1038*549A>G commonName 1587a/g RISN_RDS:c.1038*768T>C commonName 1806t/c RISN_RDS:c.1891_1894del commonName 1891del4bp RISN_RDS:c.1038*904A>C commonName 1942a/c RISN_RDS:c.1038*1007A>C commonName 2045a/c RISN_RDS:c.1038*1363T>C commonName 2401t/c RISN_RDS:c.1038*1381T>C commonName 2419t/c RISN_CRX:c.21dupG commonName 21insG RISN_CRX:c.21dupG phenoCommon LCA RISN_CRX:c.100+12C>T commonName IVS1+12c/t RISN_CRX:c.100+12C>T phenoCommon Rare variant RISN_CRX:c.100+2T>C commonName IVS1+2t/c RISN_CRX:c.101-13C>G commonName IVS1-13c/g RISN_CRX:c.101-65A>T commonName IVS1-65a/t RISN_CRX:c.121C>T commonName Arg 41 Trp RISN_CRX:c.121C>T phenoCommon CORD2 RISN_CRX:c.121C>T protEffect p.Arg41Trp RISN_CRX:c.122G>A commonName Arg 41 Gln RISN_CRX:c.122G>A phenoCommon isolate RP RISN_CRX:c.122G>A protEffect p.Arg41Gln RISN_CRX:c.166G>A commonName Ala 56 Thr RISN_CRX:c.166G>A phenoCommon LCA RISN_CRX:c.166G>A protEffect p.Ala56Thr RISN_CRX:c.196G>A commonName Val 66 Ile RISN_CRX:c.196G>A protEffect p.Val66Ile RISN_CRX:c.238G>A commonName Glu 80 Lys RISN_CRX:c.238G>A phenoCommon CORD2 RISN_CRX:c.238G>A protEffect p.Glu80Lys RISN_CRX:c.239A>C commonName Glu 80 Ala RISN_CRX:c.239A>C phenoCommon CORD2 RISN_CRX:c.239A>C protEffect p.Glu80Ala RISN_CRX:c.253-15G>A commonName IVS2-15g/a RISN_CRX:c.253-18T>A commonName IVS2-18t/a RISN_CRX:p.Arg90Trp commonName Arg 90 Trp RISN_CRX:p.Arg90Trp phenoCommon LCA RISN_CRX:p.Arg90Trp protEffect p.Arg90Trp RISN_CRX:c.335C>T commonName Ala 112 Val RISN_CRX:c.335C>T phenoCommon LCA? RISN_CRX:c.335C>T protEffect p.Ala112Val RISN_CRX:c.351dupC commonName 351ins C RISN_CRX:c.351dupC phenoCommon CORD2 RISN_CRX:c.365G>A commonName Gly 122 Asp RISN_CRX:c.365G>A phenoCommon ADRP RISN_CRX:c.365G>A protEffect p.Gly122Asp RISN_CRX:c.425A>G commonName Tyr 142 Cys RISN_CRX:c.425A>G protEffect p.Tyr142Cys RISN_CRX:c.436_447del commonName 436del12bp RISN_CRX:c.436_447del phenoCommon ADRP RISN_CRX:c.444dupC commonName 444insC RISN_CRX:c.472G>A commonName Ala 158 Thr RISN_CRX:c.472G>A phenoCommon CORD2 RISN_CRX:c.472G>A protEffect p.Ala158Thr RISN_CRX:c.501_502delAG commonName 503delAG RISN_CRX:c.501_502delAG phenoCommon LCA RISN_CRX:c.505delT commonName 505delT RISN_CRX:c.505delT phenoCommon LCA RISN_CRX:c.519delG commonName 519delG RISN_CRX:c.529delG commonName 529delG RISN_CRX:c.529delG phenoCommon LCA RISN_CRX:c.541delG commonName 541delG RISN_CRX:c.549G>A commonName Gly 183 Gly RISN_CRX:c.549G>A protEffect p.Gly183Gly RISN_CRX:c.571delT commonName 571delT RISN_CRX:c.571delT phenoCommon LCA / CRD RISN_CRX:c.585dupC commonName 585insC RISN_CRX:c.585dupC phenoCommon CORD2 RISN_CRX:c.587_590delCCCC commonName 587delCCCC RISN_CRX:c.587_590delCCCC phenoCommon CORD2 RISN_CRX:c.597C>T commonName Ser 199 Ser RISN_CRX:c.597C>T protEffect p.Ser199Ser RISN_CRX:c.613delC commonName 613delC RISN_CRX:c.613delC phenoCommon CORD2 RISN_CRX:c.649delG commonName 649delG RISN_CRX:c.649delG phenoCommon LCA RISN_CRX:c.705delC commonName 705delC RISN_CRX:c.705delC phenoCommon LCA RISN_CRX:c.724G>A commonName Val 242 Met RISN_CRX:c.724G>A phenoCommon CORD2 RISN_CRX:c.724G>A protEffect p.Val242Met RISN_CRX:c.bp_720dup commonName 742ins23bp dup720-742 RISN_CRX:c.753delC commonName 753delC RISN_CRX:c.786delC commonName 786delC RISN_CRX:c.786delC phenoCommon LCA / CRD RISN_CRX:c.818C>T commonName Thr 273 Met RISN_CRX:c.818C>T protEffect p.Thr273Met RISN_GC1:c.2T>A commonName Met 1 Lys RISN_GC1:c.2T>A protEffect p.Met1Lys RISN_GC1:c.3G>A commonName Met 1 Ile RISN_GC1:c.3G>A phenoCommon CORD RISN_GC1:c.3G>A protEffect p.Met1Ile RISN_GC1:c.3G>C commonName Met 1 Ile RISN_GC1:c.3G>C phenoCommon CORD RISN_GC1:c.3G>C protEffect p.Met1Ile RISN_GC1:c.52_99dup commonName 52dup48bp RISN_GC1:c.52_99dup phenoCommon CORD RISN_GC1:c.61T>C commonName Trp 21 Arg RISN_GC1:c.61T>C protEffect p.Trp21Arg RISN_GC1:c.87dupC commonName 87insC RISN_GC1:c.121C>T commonName Leu 41 Phe RISN_GC1:c.121C>T phenoCommon CORD? RISN_GC1:c.121C>T protEffect p.Leu41Phe RISN_GC1:c.154G>T commonName Ala 52 Ser RISN_GC1:c.154G>T protEffect p.Ala52Ser RISN_GC1:c.226_239del commonName 226del14bp RISN_GC1:c.226_239del phenoCommon CORD RISN_GC1:c.289G>C commonName Glu 97 Gln RISN_GC1:c.289G>C protEffect p.Glu97Gln RISN_GC1:c.307G>A commonName Glu 103 Lys RISN_GC1:c.307G>A protEffect p.Glu103Lys RISN_GC1:c.314G>A commonName Cys 105 Tyr RISN_GC1:c.314G>A phenoCommon LCA RISN_GC1:c.314G>A protEffect p.Cys105Tyr RISN_GC1:c.387delC commonName 387delC RISN_GC1:c.387delC phenoCommon CORD RISN_GC1:c.387C>A commonName Asn 129 Lys RISN_GC1:c.387C>A phenoCommon CORD RISN_GC1:c.387C>A protEffect p.Asn129Lys RISN_GC1:c.620delC commonName 620delC RISN_GC1:c.620delC phenoCommon CORD RISN_GC1:c.779T>C commonName Leu 260 Pro RISN_GC1:c.779T>C protEffect p.Leu260Pro RISN_GC1:c.935C>T commonName Thr 312 Met RISN_GC1:c.935C>T phenoCommon LCA RISN_GC1:c.935C>T protEffect p.Thr312Met RISN_GC1:c.937C>T commonName Arg 313 Cys RISN_GC1:c.937C>T phenoCommon CORD RISN_GC1:c.937C>T protEffect p.Arg313Cys RISN_GC1:c.974T>C commonName Leu 325 Pro RISN_GC1:c.974T>C phenoCommon LCA RISN_GC1:c.974T>C protEffect p.Leu325Pro RISN_GC1:c.1052A>G commonName Tyr 351 Cys RISN_GC1:c.1052A>G protEffect p.Tyr351Cys RISN_GC1:c.1084G>T commonName Ala 362 Ser RISN_GC1:c.1084G>T protEffect p.Ala362Ser RISN_GC1:c.1236C>T commonName Asp 412 Asp RISN_GC1:c.1236C>T protEffect p.Asp412Asp RISN_GC1:c.1343C>A commonName Ser 448 ter RISN_GC1:c.1343C>A phenoCommon CORD RISN_GC1:c.1343C>A protEffect p.Ser448X RISN_GC1:c.1379-28A>G commonName IVS4-28a/g RISN_GC1:c.1424_1431dup commonName 1424-1431dup RISN_GC1:c.1424_1431dup phenoCommon LCA RISN_GC1:c.1537C>T commonName Leu 513 Phe RISN_GC1:c.1537C>T protEffect p.Leu513Phe RISN_GC1:c.1566+2T>C commonName IVS6+2t>c RISN_GC1:c.1615A>G commonName Ile 539 Val RISN_GC1:c.1615A>G phenoCommon LCA RISN_GC1:c.1615A>G protEffect p.Ile539Val RISN_GC1:c.1618C>T commonName Arg 540 Cys RISN_GC1:c.1618C>T phenoCommon CORD RISN_GC1:c.1618C>T protEffect p.Arg540Cys RISN_GC1:c.1694T>C commonName Phe 565 Ser RISN_GC1:c.1694T>C phenoCommon LCA RISN_GC1:c.1694T>C protEffect p.Phe565Ser RISN_GC1:c.1717A>G commonName Ile 573 Val RISN_GC1:c.1717A>G phenoCommon LCA RISN_GC1:c.1717A>G protEffect p.Ile573Val RISN_GC1:c.1724C>T commonName Pro 575 Leu RISN_GC1:c.1724C>T phenoCommon LCA RISN_GC1:c.1724C>T protEffect p.Pro575Leu RISN_GC1:c.1806_1830del commonName 1806del25bp RISN_GC1:c.1806_1830del phenoCommon CORD RISN_GC1:c.1956+2T>A commonName IVS9+2t>a RISN_GC1:c.1956+2T>A phenoCommon CORD RISN_GC1:c.1957-1G>T commonName IVS9-1g>t RISN_GC1:c.1957-1G>T phenoCommon CORD RISN_GC1:c.1957-1G>A commonName IVS9-1g>a RISN_GC1:c.1957-1G>A phenoCommon CORD RISN_GC1:c.1957G>A commonName Gly 653 Arg RISN_GC1:c.1957G>A protEffect p.Gly653Arg RISN_GC1:c.1978C>T commonName Arg 660 ter RISN_GC1:c.1978C>T phenoCommon LCA RISN_GC1:c.1978C>T protEffect p.Arg660X RISN_GC1:c.1979G>A commonName Arg 660 Gln RISN_GC1:c.1979G>A phenoCommon LCA RISN_GC1:c.1979G>A protEffect p.Arg660Gln RISN_GC1:c.2078_2085del commonName 2078del8bp RISN_GC1:c.2080C>A commonName Glu 694 Lys RISN_GC1:c.2080C>A protEffect p.Glu694Lys RISN_GC1:c.2101C>T commonName Pro 701 Ser RISN_GC1:c.2101C>T phenoCommon ARRP RISN_GC1:c.2101C>T protEffect p.Pro701Ser RISN_GC1:c.2109G>A commonName Ala 703 Ala RISN_GC1:c.2109G>A protEffect p.Ala703Ala RISN_GC1:c.2237A>G commonName Tyr 746 Cys RISN_GC1:c.2237A>G phenoCommon LCA RISN_GC1:c.2237A>G protEffect p.Tyr746Cys RISN_GC1:c.2248G>T commonName Glu 750 ter RISN_GC1:c.2248G>T protEffect p.Glu750X RISN_GC1:c.2302C>T commonName Arg 768 Trp RISN_GC1:c.2302C>T phenoCommon LCA RISN_GC1:c.2302C>T protEffect p.Arg768Trp RISN_GC1:c.2317A>C commonName Met 773 Leu RISN_GC1:c.2317A>C phenoCommon LCA RISN_GC1:c.2317A>C protEffect p.Met773Leu RISN_GC1:c.2346C>A commonName Leu 782 His RISN_GC1:c.2346C>A phenoCommon Rare Variant RISN_GC1:c.2346C>A protEffect p.Leu782His RISN_GC1:c.2384G>T commonName Arg 795 Leu RISN_GC1:c.2384G>T phenoCommon LCA RISN_GC1:c.2384G>T protEffect p.Arg795Leu RISN_GC1:c.2511G>C commonName Glu 837 Asp RISN_GC1:c.2511G>C phenoCommon CORD RISN_GC1:c.2511G>C protEffect p.Glu837Asp RISN_GC1:c.2512C>T commonName Arg 838 Cys RISN_GC1:c.2512C>T phenoCommon CORD6 = CORD5 RISN_GC1:c.2512C>T protEffect p.Arg838Cys RISN_GC1:c.2512C>A commonName Arg 838 Ser RISN_GC1:c.2512C>A phenoCommon CORD6/LCA RISN_GC1:c.2512C>A protEffect p.Arg838Ser RISN_GC1:c.2513G>A commonName Arg 838 His RISN_GC1:c.2513G>A phenoCommon CORD6 = CORD5 RISN_GC1:c.2513G>A protEffect p.Arg838His RISN_GC1:c.2516C>T commonName Thr 839 Met RISN_GC1:c.2516C>T phenoCommon CORD RISN_GC1:c.2516C>T protEffect p.Thr839Met RISN_GC1:c.2566A>G commonName Met 856 Val RISN_GC1:c.2566A>G protEffect p.Met856Val RISN_GC1:c.2572C>T commonName Pro 858 Ser RISN_GC1:c.2572C>T phenoCommon LCA RISN_GC1:c.2572C>T protEffect p.Pro858Ser RISN_GC1:c.2576+37G>T commonName IVS13+37g/t RISN_GC1:c.2745C>T commonName Ile 915 Thr RISN_GC1:c.2745C>T phenoCommon CORD RISN_GC1:c.2745C>T protEffect p.Ile915Thr RISN_GC1:c.2749G>C commonName Gly 917 Arg RISN_GC1:c.2749G>C phenoCommon CORD RISN_GC1:c.2749G>C protEffect p.Gly917Arg RISN_GC1:c.2800G>C commonName Ala 934 Pro RISN_GC1:c.2800G>C protEffect p.Ala934Pro RISN_GC1:c.2837C>T commonName Ala 946 Val RISN_GC1:c.2837C>T phenoCommon LCA RISN_GC1:c.2837C>T protEffect p.Ala946Val RISN_GC1:c.2849C>T commonName Ala 950 Val RISN_GC1:c.2849C>T protEffect p.Ala950Val RISN_GC1:c.2861T>C commonName Leu 954 Pro RISN_GC1:c.2861T>C phenoCommon LCA RISN_GC1:c.2861T>C protEffect p.Leu954Pro RISN_GC1:c.2899delC commonName 2899delC RISN_GC1:c.2899delC phenoCommon LCA RISN_GC1:c.2927G>T commonName Arg 976 Leu RISN_GC1:c.2927G>T phenoCommon CORD RISN_GC1:c.2927G>T protEffect p.Arg976Leu RISN_GC1:c.2943delG commonName 2943delG RISN_GC1:c.2943delG phenoCommon LCA RISN_GC1:c.2951G>A commonName Cys 984 Tyr RISN_GC1:c.2951G>A protEffect p.Cys984Tyr RISN_GC1:c.2983C>T commonName Arg 995 Trp RISN_GC1:c.2983C>T phenoCommon LCA RISN_GC1:c.2983C>T protEffect p.Arg995Trp RISN_GC1:c.3025A>T commonName Met 1009 Leu RISN_GC1:c.3025A>T phenoCommon CORD RISN_GC1:c.3025A>T protEffect p.Met1009Leu RISN_GC1:c.3043+4A>T commonName IVS16+4a>t RISN_GC1:c.3043+4A>T phenoCommon CORD RISN_GC1:c.3055C>A commonName His 1019 Pro RISN_GC1:c.3055C>A phenoCommon CORD RISN_GC1:c.3055C>A protEffect p.His1019Pro RISN_GC1:c.3055_3064delins4 commonName 3055del10bpins4bp RISN_GC1:c.3055_3064delins4 phenoCommon LCA RISN_GC1:c.3078_3079delGA commonName 3078delGA RISN_GC1:c.3078_3079delGA phenoCommon CORD RISN_GC1:c.3106C>T commonName Gln 1036 ter RISN_GC1:c.3106C>T phenoCommon CORD RISN_GC1:c.3106C>T protEffect p.Gln1036X RISN_GC1:c.3108G>T commonName Gln 1036 His RISN_GC1:c.3108G>T phenoCommon LCA RISN_GC1:c.3108G>T protEffect p.Gln1036His RISN_GC1:c.3118C>G commonName Arg 1040 Gly RISN_GC1:c.3118C>G phenoCommon LCA RISN_GC1:c.3118C>G protEffect p.Arg1040Gly RISN_GC1:c.3118C>T commonName Arg 1040 ter RISN_GC1:c.3118C>T protEffect p.Arg1040X RISN_GC1:c.3138+34G>T commonName IVS17+34g/t RISN_GC1:c.3181G>A commonName Gly 1061 Ser RISN_GC1:c.3181G>A protEffect p.Gly1061Ser RISN_GC1:c.3205delC commonName 3205delC RISN_GC1:c.3205delC phenoCommon EOSRP RISN_GC1:c.3235_3236insACCA commonName 3236insACCA RISN_GC1:c.3235_3236insACCA phenoCommon EOSRP RISN_GC1:c.3282G>T commonName Leu 1094 Leu RISN_GC1:c.3282G>T protEffect p.Leu1094Leu RISN_GC1:c.1026+171delG commonName IVS3+171delg RISN_GC1:c.1026+171delG phenoCommon ACHM RISN_GC1:c.341T>C commonName Thr 114 Ile RISN_GC1:c.341T>C phenoCommon Atypical RP RISN_GC1:c.341T>C protEffect p.Thr114Ile RISN_GC1:c.577C>T commonName Asp 189 Asp RISN_GC1:c.577C>T phenoCommon MD, ACHM RISN_GC1:c.577C>T protEffect p.Asp189Asp RISN_ABCR:c.634C>T commonName Arg 212 Cys RISN_ABCR:c.634C>T phenoCommon AMD RISN_ABCR:c.634C>T protEffect p.Arg212Cys RISN_ABCR:c.769-5T>G commonName IVS6-5t/g RISN_ABCR:c.769-5T>G phenoCommon AMD RISN_ABCR:c.1411G>A commonName Glu 471 Lys RISN_ABCR:c.1411G>A phenoCommon AMD RISN_ABCR:c.1411G>A protEffect p.Glu471Lys RISN_ABCR:c.2453G>A commonName Gly 818 Glu RISN_ABCR:c.2453G>A phenoCommon AMD RISN_ABCR:c.2453G>A protEffect p.Gly818Glu RISN_ABCR:c.2588G>C commonName 2588G>C =; Gly 863 Ala RISN_ABCR:c.2588G>C phenoCommon AMD RISN_ABCR:c.2588G>C protEffect p.Gly863Ala RISN_ABCR:c.2884delC commonName 2884delC RISN_ABCR:c.2884delC phenoCommon AMD RISN_ABCR:c.3113C>T commonName Ala 1038 Val RISN_ABCR:c.3113C>T phenoCommon AMD RISN_ABCR:c.3113C>T protEffect p.Ala1038Val RISN_ABCR:c.3386G>T commonName Arg 1129 Leu RISN_ABCR:c.3386G>T phenoCommon AMD RISN_ABCR:c.3386G>T protEffect p.Arg1129Leu RISN_ABCR:c.4283C>T commonName Thr 1428 Met RISN_ABCR:c.4283C>T phenoCommon AMD RISN_ABCR:c.4283C>T protEffect p.Thr1428Met RISN_ABCR:c.4297G>A commonName Val 1433 Ile RISN_ABCR:c.4297G>A phenoCommon AMD RISN_ABCR:c.4297G>A protEffect p.Val1433Ile RISN_ABCR:c.4549C>A commonName Arg 1517 Ser RISN_ABCR:c.4549C>A phenoCommon AMD RISN_ABCR:c.4549C>A protEffect p.Arg1517Ser RISN_ABCR:c.4685T>C commonName Ile 1562 Thr RISN_ABCR:c.4685T>C phenoCommon AMD RISN_ABCR:c.4685T>C protEffect p.Ile1562Thr RISN_ABCR:c.4714A>T commonName Thr 1572 Met RISN_ABCR:c.4714A>T phenoCommon AMD RISN_ABCR:c.4714A>T protEffect p.Thr1572Met RISN_ABCR:c.4732G>A commonName Gly 1578 Arg RISN_ABCR:c.4732G>A phenoCommon AMD RISN_ABCR:c.4732G>A protEffect p.Gly1578Arg RISN_ABCR:c.4773+1G>T commonName IVS33+1g>t RISN_ABCR:c.4773+1G>T phenoCommon AMD RISN_ABCR:c.5196+1G>A commonName IVS36+1g>a RISN_ABCR:c.5196+1G>A phenoCommon AMD RISN_ABCR:c.5693G>A commonName Arg 1898 His RISN_ABCR:c.5693G>A phenoCommon AMD RISN_ABCR:c.5693G>A protEffect p.Arg1898His RISN_ABCR:c.5882G>A commonName Gly 1961 Glu RISN_ABCR:c.5882G>A phenoCommon AMD RISN_ABCR:c.5882G>A protEffect p.Gly1961Glu RISN_ABCR:c.5908C>T commonName Leu 1970 Phe RISN_ABCR:c.5908C>T phenoCommon AMD RISN_ABCR:c.5908C>T protEffect p.Leu1970Phe RISN_ABCR:c.6148G>C commonName Val 2050 Leu RISN_ABCR:c.6148G>C phenoCommon AMD RISN_ABCR:c.6148G>C protEffect p.Val2050Leu RISN_ABCR:c.6498C>G commonName Ile 2166 Met RISN_ABCR:c.6498C>G phenoCommon AMD RISN_ABCR:c.6498C>G protEffect p.Ile2166Met RISN_ABCR:c.6519_6529del commonName 6519del11bp RISN_ABCR:c.6519_6529del phenoCommon AMD RISN_ABCR:c.6529G>A commonName Asp 2177 Asn RISN_ABCR:c.6529G>A phenoCommon AMD RISN_ABCR:c.6529G>A protEffect p.Asp2177Asn RISN_ABCR:c.6568delC commonName 6568delC RISN_ABCR:c.6568delC phenoCommon AMD RISN_ABCR:c.2585C>T commonName Pro 862 Leu RISN_ABCR:c.2585C>T phenoCommon AMD/Variant RISN_ABCR:c.2585C>T protEffect p.Pro862Leu RISN_ABCR:c.6088C>T commonName Arg 2030 ter RISN_ABCR:c.6088C>T phenoCommon arCRD RISN_ABCR:c.6088C>T protEffect p.Arg2030X RISN_ABCR:c.6449G>A commonName Cys 2150 Tyr RISN_ABCR:c.6449G>A phenoCommon arCRD RISN_ABCR:c.6449G>A protEffect p.Cys2150Tyr RISN_ABCR:c.1760+2T>G commonName IVS12+2t>g RISN_ABCR:c.1760+2T>G phenoCommon ARRP RISN_ABCR:c.1847delA commonName 1847delA RISN_ABCR:c.1847delA phenoCommon ARRP RISN_ABCR:c.2827C>G commonName Arg 943 Gln RISN_ABCR:c.2827C>G phenoCommon ARRP RISN_ABCR:c.2827C>G protEffect p.Arg943Gln RISN_ABCR:c.3523-28T>C commonName IVS23-28t>c RISN_ABCR:c.3523-28T>C phenoCommon ARRP RISN_ABCR:c.4539+1G>T commonName IVS30+1g>t RISN_ABCR:c.4539+1G>T phenoCommon ARRP RISN_ABCR:c.4773+48C>T commonName IVS33+48c>t RISN_ABCR:c.4773+48C>T phenoCommon ARRP RISN_ABCR:c.5585-70T>C commonName IVS39-70c>t RISN_ABCR:c.5585-70T>C phenoCommon ARRP RISN_ABCR:c.5888delG commonName 5888delG RISN_ABCR:c.5888delG phenoCommon ARRP RISN_ABCR:c.5917delG commonName 5917delG RISN_ABCR:c.5917delG phenoCommon ARRP RISN_ABCR:c.52C>T commonName Arg 18 Trp RISN_ABCR:c.52C>T phenoCommon CRD RISN_ABCR:c.52C>T protEffect p.Arg18Trp RISN_ABCR:c.70C>T commonName Arg 24 Cys RISN_ABCR:c.70C>T phenoCommon CRD RISN_ABCR:c.70C>T protEffect p.Arg24Cys RISN_ABCR:c.194G>A commonName Gly 65 Glu RISN_ABCR:c.194G>A phenoCommon CRD RISN_ABCR:c.194G>A protEffect p.Gly65Glu RISN_ABCR:c.249_250insCAAA commonName 250insCAAA RISN_ABCR:c.249_250insCAAA phenoCommon CRD RISN_ABCR:c.481G>A commonName Glu 161 Lys RISN_ABCR:c.481G>A phenoCommon CRD RISN_ABCR:c.481G>A protEffect p.Glu161Lys RISN_ABCR:c.768G>T commonName Val 256 Val RISN_ABCR:c.768G>T phenoCommon CRD RISN_ABCR:c.768G>T protEffect p.Val256Val RISN_ABCR:c.1066A>T commonName Lys 356 ter RISN_ABCR:c.1066A>T phenoCommon CRD RISN_ABCR:c.1066A>T protEffect p.Lys356X RISN_ABCR:c.1622T>C commonName Leu 541 Pro RISN_ABCR:c.1622T>C phenoCommon CRD RISN_ABCR:c.1622T>C protEffect p.Leu541Pro RISN_ABCR:c.1789C>T commonName Pro 597 Ser RISN_ABCR:c.1789C>T phenoCommon CRD RISN_ABCR:c.1789C>T protEffect p.Pro597Ser RISN_ABCR:c.1853G>A commonName Gly 618 Glu RISN_ABCR:c.1853G>A phenoCommon CRD RISN_ABCR:c.1853G>A protEffect p.Gly618Glu RISN_ABCR:c.2300T>A commonName Val 767 Asp RISN_ABCR:c.2300T>A phenoCommon CRD RISN_ABCR:c.2300T>A protEffect p.Val767Asp RISN_ABCR:c.2588-12C>G commonName IVS16-12c>g RISN_ABCR:c.2588-12C>G phenoCommon CRD RISN_ABCR:c.3085C>T commonName Glu 1029 ter RISN_ABCR:c.3085C>T phenoCommon CRD RISN_ABCR:c.3085C>T protEffect p.Glu1029X RISN_ABCR:c.3259G>A commonName Glu 1087 Lys RISN_ABCR:c.3259G>A phenoCommon CRD RISN_ABCR:c.3259G>A protEffect p.Glu1087Lys RISN_ABCR:c.3364G>A commonName Glu 1122 Lys RISN_ABCR:c.3364G>A phenoCommon CRD RISN_ABCR:c.3364G>A protEffect p.Glu1122Lys RISN_ABCR:c.3862+1G>A commonName IVS26+1g>a RISN_ABCR:c.3862+1G>A phenoCommon CRD RISN_ABCR:c.4035_4036dupCA commonName 4035insCA RISN_ABCR:c.4035_4036dupCA phenoCommon CRD RISN_ABCR:c.4469G>A commonName Cys 1490 Tyr RISN_ABCR:c.4469G>A phenoCommon CRD RISN_ABCR:c.4469G>A protEffect p.Cys1490Tyr RISN_ABCR:c.4537_4538insC commonName 4538insC RISN_ABCR:c.4537_4538insC phenoCommon CRD RISN_ABCR:c.4919G>A commonName Arg 1640 Gln RISN_ABCR:c.4919G>A phenoCommon CRD RISN_ABCR:c.4919G>A protEffect p.Arg1640Gln RISN_ABCR:c.4918C>T commonName Arg 1640 Trp RISN_ABCR:c.4918C>T phenoCommon CRD RISN_ABCR:c.4918C>T protEffect p.Arg1640Trp RISN_ABCR:c.5196+2T>C commonName IVS36+2t>c RISN_ABCR:c.5196+2T>C phenoCommon CRD RISN_ABCR:c.5381C>A commonName Ala 1794 Asp RISN_ABCR:c.5381C>A phenoCommon CRD RISN_ABCR:c.5381C>A protEffect p.Ala1794Asp RISN_ABCR:c.5461-10T>C commonName IVS38-10t/c RISN_ABCR:c.5461-10T>C phenoCommon CRD RISN_ABCR:c.5714+5G>A commonName IVS40+5g>a RISN_ABCR:c.5714+5G>A phenoCommon CRD RISN_ABCR:c.6079C>T commonName Leu 2027 Phe RISN_ABCR:c.6079C>T phenoCommon CRD RISN_ABCR:c.6079C>T protEffect p.Leu2027Phe RISN_ABCR:c.6601_6602delAG commonName 6601delAG RISN_ABCR:c.6601_6602delAG phenoCommon CRD RISN_ABCR:c.32T>C commonName Leu 11 Pro RISN_ABCR:c.32T>C protEffect p.Leu11Pro RISN_ABCR:c.122G>A commonName Trp 41 ter RISN_ABCR:c.122G>A protEffect p.Trp41X RISN_ABCR:c.161G>T commonName Cys 54 Phe RISN_ABCR:c.161G>T protEffect p.Cys54Phe RISN_ABCR:c.178G>A commonName Ala 60 Thr RISN_ABCR:c.178G>A protEffect p.Ala60Thr RISN_ABCR:c.203C>T commonName Pro 68 Leu RISN_ABCR:c.203C>T protEffect p.Pro68Leu RISN_ABCR:c.214G>A commonName Gly 72 Arg RISN_ABCR:c.214G>A protEffect p.Gly72Arg RISN_ABCR:c.296dupA commonName 296insA RISN_ABCR:c.302+1G>A commonName IVS3+1g>a RISN_ABCR:c.666_678del commonName 666del13bp RISN_ABCR:c.667_678del commonName 667del12bp RISN_ABCR:c.667_680del commonName 667del14bp RISN_ABCR:c.671delC commonName 671delC RISN_ABCR:c.730_731delCT commonName 730delCT RISN_ABCR:c.740A>T commonName Asn 247 Ile RISN_ABCR:c.740A>T protEffect p.Asn247Ile RISN_ABCR:c.740A>G commonName Asn 247 Ser RISN_ABCR:c.740A>G protEffect p.Asn247Ser RISN_ABCR:c.763C>G commonName Arg 255 Cys RISN_ABCR:c.763C>G protEffect p.Arg255Cys RISN_ABCR:c.982G>T commonName Glu 328 ter RISN_ABCR:c.982G>T protEffect p.Glu328X RISN_ABCR:c.983A>T commonName Glu 328 Val RISN_ABCR:c.983A>T protEffect p.Glu328Val RISN_ABCR:c.1015T>G commonName Trp 339 Gly RISN_ABCR:c.1015T>G protEffect p.Trp339Gly RISN_ABCR:c.1025_1038del commonName 1025del14bp RISN_ABCR:c.1036A>T commonName Lys 346 ter RISN_ABCR:c.1036A>T protEffect p.Lys346X RISN_ABCR:c.1037A>C commonName Lys 346 Thr RISN_ABCR:c.1037A>C protEffect p.Lys346Thr RISN_ABCR:c.1086T>G commonName Tyr 362 ter RISN_ABCR:c.1086T>G protEffect p.Tyr362X RISN_ABCR:c.1268A>C commonName His 423 Pro RISN_ABCR:c.1268A>C protEffect p.His423Pro RISN_ABCR:c.1317G>A commonName Trp 439 ter RISN_ABCR:c.1317G>A protEffect p.Trp439X RISN_ABCR:c.1325T>C commonName Phe 442 Ser RISN_ABCR:c.1325T>C protEffect p.Phe442Ser RISN_ABCR:c.1506_1514del commonName 1506del9bp RISN_ABCR:c.1554+1G>A commonName IVS11+1g>a RISN_ABCR:c.1555-1G>A commonName IVS11-1g>a RISN_ABCR:c.1610G>A commonName Arg 537 His RISN_ABCR:c.1610G>A protEffect p.Arg537His RISN_ABCR:c.1659C>G commonName Phe 553 Leu RISN_ABCR:c.1659C>G protEffect p.Phe553Leu RISN_ABCR:c.1798G>T commonName Asp 600 Tyr RISN_ABCR:c.1798G>T protEffect p.Asp600Tyr RISN_ABCR:c.1822T>C commonName Phe 608 Leu RISN_ABCR:c.1822T>C protEffect p.Phe608Leu RISN_ABCR:c.1823T>A commonName Phe 608 Tyr RISN_ABCR:c.1823T>A protEffect p.Phe608Tyr RISN_ABCR:c.1903C>A commonName Gln 635 Lys RISN_ABCR:c.1903C>A protEffect p.Gln635Lys RISN_ABCR:c.1908G>T commonName Gln 636 His RISN_ABCR:c.1908G>T protEffect p.Gln636His RISN_ABCR:c.1917C>T commonName Tyr 639 Tyr RISN_ABCR:c.1917C>T protEffect p.Tyr639Tyr RISN_ABCR:c.1937+1G>A commonName IVS13+1g>a RISN_ABCR:c.2057T>C commonName Leu 686 Ser RISN_ABCR:c.2057T>C protEffect p.Leu686Ser RISN_ABCR:c.2292delT commonName 2292delT RISN_ABCR:c.2295T>G commonName Ser 765 Arg RISN_ABCR:c.2295T>G protEffect p.Ser765Arg RISN_ABCR:c.2409_2410delAT commonName 2409delAT RISN_ABCR:c.2564G>A commonName Trp 855 ter RISN_ABCR:c.2564G>A protEffect p.Trp855X RISN_ABCR:c.2570delT commonName 2570delT RISN_ABCR:c.2616_2617delCT commonName 2616delCT RISN_ABCR:c.2703A>T commonName Thr 901 Thr RISN_ABCR:c.2703A>T protEffect p.Thr901Thr RISN_ABCR:c.2826delC commonName 2826delC RISN_ABCR:c.2876C>T commonName Thr 959 Ile RISN_ABCR:c.2876C>T protEffect p.Thr959Ile RISN_ABCR:c.2886delG commonName 2886delG RISN_ABCR:c.2948C>T commonName Thr 983 Ile RISN_ABCR:c.2948C>T protEffect p.Thr983Ile RISN_ABCR:c.2971G>C commonName Gly 991 Arg RISN_ABCR:c.2971G>C protEffect p.Gly991Arg RISN_ABCR:c.3163C>T commonName Arg 1055 Trp RISN_ABCR:c.3163C>T protEffect p.Arg1055Trp RISN_ABCR:c.3187T>C commonName Ser 1063 Pro RISN_ABCR:c.3187T>C protEffect p.Ser1063Pro RISN_ABCR:c.3190+1G>T commonName IVS21+1g>t RISN_ABCR:c.3191-2A>G commonName IVS21-2a>g RISN_ABCR:c.3261A>C commonName Glu 1087 Asp RISN_ABCR:c.3261A>C protEffect p.Glu1087Asp RISN_ABCR:c.3272G>A commonName Gly 1091 Glu RISN_ABCR:c.3272G>A protEffect p.Gly1091Glu RISN_ABCR:c.3278A>G commonName Asp 1093 Gly RISN_ABCR:c.3278A>G protEffect p.Asp1093Gly RISN_ABCR:c.3303G>A commonName Trp 1101 ter RISN_ABCR:c.3303G>A protEffect p.Trp1101X RISN_ABCR:c.3323G>T commonName Arg 1108 Leu RISN_ABCR:c.3323G>T protEffect p.Arg1108Leu RISN_ABCR:c.3438delC commonName 3438delC RISN_ABCR:c.3527_3528insTGCA commonName 3528insTGCA RISN_ABCR:c.3607+1G>A commonName IVS24+1g>a RISN_ABCR:c.3703A>G commonName Asn 1235 Asp RISN_ABCR:c.3703A>G protEffect p.Asn1235Asp RISN_ABCR:c.3754G>T commonName Glu 1252 ter RISN_ABCR:c.3754G>T protEffect p.Glu1252X RISN_ABCR:c.3758C>T commonName Thr 1253 Met RISN_ABCR:c.3758C>T protEffect p.Thr1253Met RISN_ABCR:c.3808G>T commonName Glu 1270 ter RISN_ABCR:c.3808G>T protEffect p.Glu1270X RISN_ABCR:c.3815dupT commonName 3815insT RISN_ABCR:c.3874C>T commonName Gln 1292 ter RISN_ABCR:c.3874C>T protEffect p.Gln1292X RISN_ABCR:c.3898C>T commonName Arg 1300 ter RISN_ABCR:c.3898C>T protEffect p.Arg1300X RISN_ABCR:c.3994C>T commonName Gln 1332 ter RISN_ABCR:c.3994C>T protEffect p.Gln1332X RISN_ABCR:c.4073T>C commonName Leu 1358 Pro RISN_ABCR:c.4073T>C protEffect p.Leu1358Pro RISN_ABCR:c.4169T>C commonName Leu 1390 Pro RISN_ABCR:c.4169T>C protEffect p.Leu1390Pro RISN_ABCR:c.4254-2A>G commonName IVS28-2a>g RISN_ABCR:c.4286T>C commonName Leu 1430 Pro RISN_ABCR:c.4286T>C protEffect p.Leu1430Pro RISN_ABCR:c.4318T>G commonName Phe 1440 Val RISN_ABCR:c.4318T>G protEffect p.Phe1440Val RISN_ABCR:c.4436G>A commonName Trp 1479 ter RISN_ABCR:c.4436G>A protEffect p.Trp1479X RISN_ABCR:c.4463G>A commonName Cys 1488 Tyr RISN_ABCR:c.4463G>A protEffect p.Cys1488Tyr RISN_ABCR:c.4540-2A>G commonName IVS30-2a>g RISN_ABCR:c.4667+2T>C commonName IVS32+2t>c RISN_ABCR:c.4707delC commonName 4707delC RISN_ABCR:c.4773+2T>C commonName IVS33+2t>c RISN_ABCR:c.4838delA commonName 4838delA RISN_ABCR:c.4854G>A commonName Trp 1618 ter RISN_ABCR:c.4854G>A protEffect p.Trp1618X RISN_ABCR:c.4875T>A commonName His 1625 Gln RISN_ABCR:c.4875T>A protEffect p.His1625Gln RISN_ABCR:c.4926C>G commonName Ser 1642 Arg RISN_ABCR:c.4926C>G protEffect p.Ser1642Arg RISN_ABCR:c.4999C>A commonName Gln 1667 Lys RISN_ABCR:c.4999C>A protEffect p.Gln1667Lys RISN_ABCR:c.5018+2T>A commonName IVS35+2t>a RISN_ABCR:c.5056G>A commonName Val 1686 Met RISN_ABCR:c.5056G>A protEffect p.Val1686Met RISN_ABCR:c.5065T>C commonName Ser 1689 Pro RISN_ABCR:c.5065T>C protEffect p.Ser1689Pro RISN_ABCR:c.5114G>T commonName Arg 1705 Leu RISN_ABCR:c.5114G>T protEffect p.Arg1705Leu RISN_ABCR:c.5160_5161delCA commonName 5160delCA RISN_ABCR:c.5196+1_5196+4del commonName IVS36+1del4bp RISN_ABCR:c.5196+1_5196+6del commonName IVS36+1del6bp RISN_ABCR:c.5196+2T>G commonName IVS36+2t>g RISN_ABCR:c.5242G>A commonName Gly 1748 Arg RISN_ABCR:c.5242G>A protEffect p.Gly1748Arg RISN_ABCR:c.5248C>T commonName Gln 1750 ter RISN_ABCR:c.5248C>T protEffect p.Gln1750X RISN_ABCR:c.5278_5286del commonName 5278del9bp RISN_ABCR:c.5288T>C commonName Leu 1763 Pro RISN_ABCR:c.5288T>C protEffect p.Leu1763Pro RISN_ABCR:c.5337C>A commonName Tyr 1779 ter RISN_ABCR:c.5337C>A protEffect p.Tyr1779X RISN_ABCR:c.5413A>G commonName Asn 1805 Asp RISN_ABCR:c.5413A>G protEffect p.Asn1805Asp RISN_ABCR:c.5460+1G>A commonName IVS38+1g>a RISN_ABCR:c.5512C>G commonName His 1838 Asp RISN_ABCR:c.5512C>G protEffect p.His1838Asp RISN_ABCR:c.5585-10T>C commonName IVS39-10t>c RISN_ABCR:c.5653G>A commonName Glu 1885 Lys RISN_ABCR:c.5653G>A protEffect p.Glu1885Lys RISN_ABCR:c.5761G>A commonName Val 1921 Met RISN_ABCR:c.5761G>A protEffect p.Val1921Met RISN_ABCR:c.5819T>C commonName Leu 1940 Pro RISN_ABCR:c.5819T>C protEffect p.Leu1940Pro RISN_ABCR:c.5912T>G commonName Leu 1971 Arg RISN_ABCR:c.5912T>G protEffect p.Leu1971Arg RISN_ABCR:c.5914G>A commonName Gly 1972 Arg RISN_ABCR:c.5914G>A protEffect p.Gly1972Arg RISN_ABCR:c.5923G>C commonName Gly 1975 Arg RISN_ABCR:c.5923G>C protEffect p.Gly1975Arg RISN_ABCR:c.5936C>T commonName Thr 1979 Ile RISN_ABCR:c.5936C>T protEffect p.Thr1979Ile RISN_ABCR:c.6118C>T commonName Arg 2040 ter RISN_ABCR:c.6118C>T protEffect p.Arg2040X RISN_ABCR:c.6179T>G commonName Leu 2060 Arg RISN_ABCR:c.6179T>G protEffect p.Leu2060Arg RISN_ABCR:c.6190G>C commonName Ala 2064 Pro RISN_ABCR:c.6190G>C protEffect p.Ala2064Pro RISN_ABCR:c.6229C>G commonName Arg 2077 Gly RISN_ABCR:c.6229C>G protEffect p.Arg2077Gly RISN_ABCR:c.6238_6239delTC commonName 6238delTC RISN_ABCR:c.6276G>A commonName Val 2029 Val RISN_ABCR:c.6276G>A protEffect p.Val2029Val RISN_ABCR:c.6320G>C commonName Arg 2107 Pro RISN_ABCR:c.6320G>C protEffect p.Arg2107Pro RISN_ABCR:c.6329G>A commonName Trp 2110 ter RISN_ABCR:c.6329G>A protEffect p.Trp2110X RISN_ABCR:c.6386+2C>G commonName IVS46+2c>g RISN_ABCR:c.6437G>A commonName Gly 2146 Asp RISN_ABCR:c.6437G>A protEffect p.Gly2146Asp RISN_ABCR:c.6609C>A commonName Tyr 2203 ter RISN_ABCR:c.6609C>A protEffect p.Tyr2203X RISN_ABCR:c.6658C>T commonName Gln 2220 ter RISN_ABCR:c.6658C>T protEffect p.Gln2220X RISN_ABCR:c.6709_6710insA commonName 6710insA RISN_ABCR:c.6813C>T commonName Ala 2271 Ala RISN_ABCR:c.6813C>T protEffect p.Ala2271Ala RISN_ABCR:c.141G>A commonName Pro 47 Pro RISN_ABCR:c.141G>A protEffect p.Pro47Pro RISN_ABCR:c.161-45G>T commonName IVS2-45t/g RISN_ABCR:c.234C>T commonName Asn 78 Asn RISN_ABCR:c.234C>T protEffect p.Asn78Asn RISN_ABCR:c.302+20C>T commonName IVS3+20c/t RISN_ABCR:c.302+26A>G commonName IVS3+26a/g RISN_ABCR:c.303-71delA commonName IVS3-71del a RISN_ABCR:c.571-29G>T commonName IVS5-29g/t RISN_ABCR:c.635G>A commonName Arg 212 His RISN_ABCR:c.635G>A protEffect p.Arg212His RISN_ABCR:c.769-32T>C commonName IVS6-32t/c RISN_ABCR:c.859-11C>T commonName IVS7-11c/t RISN_ABCR:c.873G>A commonName Pro 291 Pro RISN_ABCR:c.873G>A protEffect p.Pro291Pro RISN_ABCR:c.928G>C commonName Glu 310 Gln RISN_ABCR:c.928G>C protEffect p.Glu310Gln RISN_ABCR:c.933C>T commonName Thr 311 Thr RISN_ABCR:c.933C>T protEffect p.Thr311Thr RISN_ABCR:c.981C>T commonName Pro 327 Pro RISN_ABCR:c.981C>T protEffect p.Pro327Pro RISN_ABCR:c.989G>A commonName Gly 330 Asp RISN_ABCR:c.989G>A protEffect p.Gly330Asp RISN_ABCR:c.1100-14T>C commonName IVS8-14t/c RISN_ABCR:c.1240-14C>T commonName IVS9-14c/t RISN_ABCR:c.1248A>C commonName Ser 416 Ser RISN_ABCR:c.1248A>C protEffect p.Ser416Ser RISN_ABCR:c.1268A>G commonName His 423 Arg RISN_ABCR:c.1268A>G protEffect p.His423Arg RISN_ABCR:c.1269C>T commonName His 423 His RISN_ABCR:c.1269C>T protEffect p.His423His RISN_ABCR:c.1356+11delG commonName IVS10+11del g RISN_ABCR:c.1356+5_1356+6insC commonName IVS10+6ins c RISN_ABCR:c.1356+6G>C commonName IVS10+6g/c RISN_ABCR:c.1356+5delG commonName IVS10+5del g RISN_ABCR:c.1623A>G commonName Leu 541 Leu RISN_ABCR:c.1623A>G protEffect p.Leu541Leu RISN_ABCR:c.1653G>A commonName Val 551 Val RISN_ABCR:c.1653G>A protEffect p.Val551Val RISN_ABCR:c.1760+22G>T commonName IVS12+22g/t RISN_ABCR:c.1761-37G>A commonName IVS12-37g/a RISN_ABCR:c.1761-50G>A commonName IVS12-50g/a RISN_ABCR:c.1761-54G>A commonName IVS12-54g/a RISN_ABCR:c.1878G>A commonName Ala 626 Ala RISN_ABCR:c.1878G>A protEffect p.Ala626Ala RISN_ABCR:c.1928T>G commonName Val 643 Gly RISN_ABCR:c.1928T>G protEffect p.Val643Gly RISN_ABCR:c.2127G>A commonName Ser 709 Ser RISN_ABCR:c.2127G>A protEffect p.Ser709Ser RISN_ABCR:c.2383-10C>G commonName IVS15-10c/g RISN_ABCR:c.2536G>C commonName Asp 846 His RISN_ABCR:c.2536G>C protEffect p.Asp846His RISN_ABCR:c.2653+60G>C commonName IVS17+60g/c RISN_ABCR:c.2654-21A>T commonName IVS17-21a/t RISN_ABCR:c.2654-48G>C commonName IVS17-48g/c RISN_ABCR:c.2701A>G commonName Thr 901 Ala RISN_ABCR:c.2701A>G protEffect p.Thr901Ala RISN_ABCR:c.2744-38delC commonName IVS18-38del c RISN_ABCR:c.2744-56G>A commonName IVS18-56g/a RISN_ABCR:c.2877C>T commonName Thr 959 Thr RISN_ABCR:c.2877C>T protEffect p.Thr959Thr RISN_ABCR:c.2964C>T commonName Leu 988 Leu RISN_ABCR:c.2964C>T protEffect p.Leu988Leu RISN_ABCR:c.2992C>T commonName Leu 998 Leu RISN_ABCR:c.2992C>T protEffect p.Leu998Leu RISN_ABCR:c.3051-14T>A commonName IVS20-14t/a RISN_ABCR:c.3190+83A>T commonName IVS21+83a/t RISN_ABCR:c.3191-20C>T commonName IVS21-20c/t RISN_ABCR:c.3329-34A>G commonName IVS22-34a/g RISN_ABCR:c.3523-12C>T commonName IVS23-12c/t RISN_ABCR:c.3607+32G>A commonName IVS24+32g/a RISN_ABCR:c.3608-16T>A commonName IVS24-16t/a RISN_ABCR:c.3696T>G commonName Leu 1232 Leu RISN_ABCR:c.3696T>G protEffect p.Leu1232Leu RISN_ABCR:c.3940C>A commonName Pro 1314 Thr RISN_ABCR:c.3940C>A protEffect p.Pro1314Thr RISN_ABCR:c.4129-35A>T commonName IVS27-35a/t RISN_ABCR:c.4129-71A>T commonName IVS27-71a/t RISN_ABCR:c.4184T>C commonName Leu 1395 Pro RISN_ABCR:c.4184T>C protEffect p.Leu1395Pro RISN_ABCR:c.4203C>A commonName Pro 1401 Pro RISN_ABCR:c.4203C>A protEffect p.Pro1401Pro RISN_ABCR:c.4253+4C>T commonName IVS28+4c/t RISN_ABCR:c.4253+43G>A commonName IVS28+43g/a RISN_ABCR:c.4254-38G>A commonName IVS28-38g/a RISN_ABCR:c.4254-47T>C commonName IVS28-47t/c RISN_ABCR:c.4352+32G>A commonName IVS29+32a/g RISN_ABCR:c.4352+13G>A commonName IVS29+13g/a RISN_ABCR:c.4506C>T commonName Cys 1502 Cys RISN_ABCR:c.4506C>T protEffect p.Cys1502Cys RISN_ABCR:c.4539+35G>C commonName IVS30+35g/c RISN_ABCR:c.4539+40C>T commonName IVS30+40c/t RISN_ABCR:c.4539+3A>G commonName IVS30+3g/a RISN_ABCR:c.4539+21delG commonName IVS30+21del g RISN_ABCR:c.4668-38C>T commonName IVS32-38c/t RISN_ABCR:c.4668-15C>T commonName IVS32-15c/t RISN_ABCR:c.4746C>T commonName Asp 1582 Asp RISN_ABCR:c.4746C>T protEffect p.Asp1582Asp RISN_ABCR:c.4909G>A commonName Ala 1637 Thr RISN_ABCR:c.4909G>A protEffect p.Ala1637Thr RISN_ABCR:c.5019-32G>A commonName IVS35-32g/a RISN_ABCR:c.5196+20G>A commonName IVS36+20g/a RISN_ABCR:c.5312+45G>T commonName IVS37+45g/t RISN_ABCR:c.5461-50_5461-51insG commonName IVS38-51ins g RISN_ABCR:c.5461-38delT commonName IVS38-38del t RISN_ABCR:c.5461-52delG commonName IVS38-52del g RISN_ABCR:c.5461-49_5461-50insA commonName IVS38-50ins a RISN_ABCR:c.5584+6_5584+17delins11 commonName IVS39+6del12bpins11bp RISN_ABCR:c.5585-17T>A commonName IVS39-17t/a RISN_ABCR:c.5603A>T commonName Asn 1868 Ile RISN_ABCR:c.5603A>T protEffect p.Asn1868Ile RISN_ABCR:c.5682G>C commonName Leu 1894 Leu RISN_ABCR:c.5682G>C protEffect p.Leu1894Leu RISN_ABCR:c.5715-25A>C commonName IVS40-25a/c RISN_ABCR:c.5814A>G commonName Leu 1938 Leu RISN_ABCR:c.5814A>G protEffect p.Leu1938Leu RISN_ABCR:c.5836-40C>A commonName IVS41-40c/a RISN_ABCR:c.5836-15_5836-16insT commonName IVS41-16ins t RISN_ABCR:c.5836-11G>A commonName IVS41-11g/a RISN_ABCR:c.5836-36_5836-37insTC commonName IVS41-37ins tc RISN_ABCR:c.5836-24A>G commonName IVS41-24g/a RISN_ABCR:c.5843C>T commonName Pro 1948 Leu RISN_ABCR:c.5843C>T protEffect p.Pro1948Leu RISN_ABCR:c.5844G>A commonName Pro 1948 Pro RISN_ABCR:c.5844G>A protEffect p.Pro1948Pro RISN_ABCR:c.5868C>T commonName Asp 1956 Asp RISN_ABCR:c.5868C>T protEffect p.Asp1956Asp RISN_ABCR:c.5886T>C commonName Val 1962 Val RISN_ABCR:c.5886T>C protEffect p.Val1962Val RISN_ABCR:c.5951_5952delinsCA commonName Met 1984 Leu RISN_ABCR:c.5951_5952delinsCA protEffect p.Met1984Leu RISN_ABCR:c.6005+1G>T commonName IVS43+1g/t RISN_ABCR:c.6006-16G>A commonName IVS43-16g/a RISN_ABCR:c.6069C>T commonName Ile 2023 Ile RISN_ABCR:c.6069C>T protEffect p.Ile2023Ile RISN_ABCR:c.6076C>T commonName Leu 2026 Leu RISN_ABCR:c.6076C>T protEffect p.Leu2026Leu RISN_ABCR:c.6249C>T commonName Ile 2083 Ile RISN_ABCR:c.6249C>T protEffect p.Ile2083Ile RISN_ABCR:c.6255C>T commonName Leu 2085 Leu RISN_ABCR:c.6255C>T protEffect p.Leu2085Leu RISN_ABCR:c.6282+7G>A commonName IVS45+7g/a RISN_ABCR:c.6285T>C commonName Asp 2095 Asp RISN_ABCR:c.6285T>C protEffect p.Asp2095Asp RISN_ABCR:c.6342G>A commonName Val 2114 Val RISN_ABCR:c.6342G>A protEffect p.Val2114Val RISN_ABCR:c.6693C>T commonName Ile 2231 Ile RISN_ABCR:c.6693C>T protEffect p.Ile2231Ile RISN_ABCR:c.6721C>G commonName Leu 2241 Val RISN_ABCR:c.6721C>G protEffect p.Leu2241Val RISN_ABCR:c.6729+21C>T commonName IVS48+21c/t RISN_ABCR:c.6730-3T>C commonName IVS48-3t/c RISN_ABCR:c.6730-27C>G commonName IVS48-27c/g RISN_ABCR:c.6732G>A commonName Val 2244 Val RISN_ABCR:c.6732G>A protEffect p.Val2244Val RISN_ABCR:c.1A>G commonName Met 1 Val RISN_ABCR:c.1A>G phenoCommon STGD RISN_ABCR:c.1A>G protEffect p.Met1Val RISN_ABCR:c.38_46del commonName 38del9bp RISN_ABCR:c.38_46del phenoCommon STGD RISN_ABCR:c.45G>A commonName Trp 15 ter RISN_ABCR:c.45G>A phenoCommon STGD RISN_ABCR:c.45G>A protEffect p.Trp15X RISN_ABCR:c.71G>A commonName Arg 24 His RISN_ABCR:c.71G>A phenoCommon STGD RISN_ABCR:c.71G>A protEffect p.Arg24His RISN_ABCR:c.106delT commonName 106delT RISN_ABCR:c.106delT phenoCommon STGD RISN_ABCR:c.160+1G>A commonName IVS2+1g>a RISN_ABCR:c.160+1G>A phenoCommon STGD RISN_ABCR:c.161G>A commonName Cys 54 Tyr RISN_ABCR:c.161G>A phenoCommon STGD RISN_ABCR:c.161G>A protEffect p.Cys54Tyr RISN_ABCR:c.174C>G commonName Asn 58 Lys RISN_ABCR:c.174C>G phenoCommon STGD RISN_ABCR:c.174C>G protEffect p.Asn58Lys RISN_ABCR:c.179C>T commonName Ala 60 Val RISN_ABCR:c.179C>T phenoCommon STGD RISN_ABCR:c.179C>T protEffect p.Ala60Val RISN_ABCR:c.203C>G commonName Pro 68 Arg RISN_ABCR:c.203C>G phenoCommon STGD RISN_ABCR:c.203C>G protEffect p.Pro68Arg RISN_ABCR:c.223T>G commonName Cys 75 Gly RISN_ABCR:c.223T>G phenoCommon STGD RISN_ABCR:c.223T>G protEffect p.Cys75Gly RISN_ABCR:c.230T>A commonName Val 77 Glu RISN_ABCR:c.230T>A phenoCommon STGD RISN_ABCR:c.230T>A protEffect p.Val77Glu RISN_ABCR:c.247_250delCAAA commonName 247delCAAA RISN_ABCR:c.247_250delCAAA phenoCommon STGD RISN_ABCR:c.286A>G commonName Asn 96 Asp RISN_ABCR:c.286A>G phenoCommon STGD RISN_ABCR:c.286A>G protEffect p.Asn96Asp RISN_ABCR:c.286A>C commonName Asn 96 His RISN_ABCR:c.286A>C phenoCommon STGD RISN_ABCR:c.286A>C protEffect p.Asn96His RISN_ABCR:c.298T>C commonName Ser 100 Pro RISN_ABCR:c.298T>C phenoCommon STGD RISN_ABCR:c.298T>C protEffect p.Ser100Pro RISN_ABCR:c.324dupT commonName 324insT RISN_ABCR:c.324dupT phenoCommon STGD RISN_ABCR:c.428C>T commonName Pro 143 Leu RISN_ABCR:c.428C>T phenoCommon STGD RISN_ABCR:c.428C>T protEffect p.Pro143Leu RISN_ABCR:c.454C>T commonName Arg 152 ter RISN_ABCR:c.454C>T phenoCommon STGD RISN_ABCR:c.454C>T protEffect p.Arg152X RISN_ABCR:c.455G>A commonName Arg 152 Gln RISN_ABCR:c.455G>A phenoCommon STGD RISN_ABCR:c.455G>A protEffect p.Arg152Gln RISN_ABCR:c.466A>G commonName Ile 156 Val RISN_ABCR:c.466A>G phenoCommon STGD RISN_ABCR:c.466A>G protEffect p.Ile156Val RISN_ABCR:c.514G>A commonName Gly 172 Ser RISN_ABCR:c.514G>A phenoCommon STGD RISN_ABCR:c.514G>A protEffect p.Gly172Ser RISN_ABCR:c.570G>C commonName Gln 190 His RISN_ABCR:c.570G>C phenoCommon STGD RISN_ABCR:c.570G>C protEffect p.Gln190His RISN_ABCR:c.571-2A>G commonName IVS5-2a>g RISN_ABCR:c.571-2A>G phenoCommon STGD RISN_ABCR:c.571-1G>T commonName IVS5-1g>t RISN_ABCR:c.571-1G>T phenoCommon STGD RISN_ABCR:c.574G>A commonName Ala 192 Thr RISN_ABCR:c.574G>A phenoCommon STGD RISN_ABCR:c.574G>A protEffect p.Ala192Thr RISN_ABCR:c.618C>G commonName Ser 206 Arg RISN_ABCR:c.618C>G phenoCommon STGD RISN_ABCR:c.618C>G protEffect p.Ser206Arg RISN_ABCR:c.656G>C commonName Arg 219 Thr RISN_ABCR:c.656G>C phenoCommon STGD RISN_ABCR:c.656G>C protEffect p.Arg219Thr RISN_ABCR:c.658C>T commonName Arg 220 Cys RISN_ABCR:c.658C>T phenoCommon STGD RISN_ABCR:c.658C>T protEffect p.Arg220Cys RISN_ABCR:c.661delG commonName 661delG RISN_ABCR:c.661delG phenoCommon STGD RISN_ABCR:c.664_676del commonName 664del13bp RISN_ABCR:c.664_676del phenoCommon STGD RISN_ABCR:c.666_676del commonName 666del11bp RISN_ABCR:c.666_676del phenoCommon STGD RISN_ABCR:c.731T>C commonName Leu 244 Pro RISN_ABCR:c.731T>C phenoCommon STGD RISN_ABCR:c.731T>C protEffect p.Leu244Pro RISN_ABCR:c.746A>G commonName Asp 249 Gly RISN_ABCR:c.746A>G phenoCommon STGD RISN_ABCR:c.746A>G protEffect p.Asp249Gly RISN_ABCR:c.769-1G>T commonName IVS6-1g/t RISN_ABCR:c.769-1G>T phenoCommon STGD RISN_ABCR:c.832delT commonName 832delT RISN_ABCR:c.832delT phenoCommon STGD RISN_ABCR:c.899C>A commonName Thr 300 Asn RISN_ABCR:c.899C>A phenoCommon STGD RISN_ABCR:c.899C>A protEffect p.Thr300Asn RISN_ABCR:c.926C>G commonName Pro 309 Arg RISN_ABCR:c.926C>G phenoCommon STGD RISN_ABCR:c.926C>G protEffect p.Pro309Arg RISN_ABCR:c.997C>T commonName Arg 333 Trp RISN_ABCR:c.997C>T phenoCommon STGD RISN_ABCR:c.997C>T protEffect p.Arg333Trp RISN_ABCR:c.1007C>G commonName Ser 336 Cys RISN_ABCR:c.1007C>G phenoCommon STGD RISN_ABCR:c.1007C>G protEffect p.Ser336Cys RISN_ABCR:c.1018T>G commonName Tyr 340 Asp RISN_ABCR:c.1018T>G phenoCommon STGD RISN_ABCR:c.1018T>G protEffect p.Tyr340Asp RISN_ABCR:c.1140T>A commonName Asn 380 Lys RISN_ABCR:c.1140T>A phenoCommon STGD RISN_ABCR:c.1140T>A protEffect p.Asn380Lys RISN_ABCR:c.1222C>T commonName Arg 408 ter RISN_ABCR:c.1222C>T phenoCommon STGD RISN_ABCR:c.1222C>T protEffect p.Arg408X RISN_ABCR:c.1272T>C commonName Val 424 Ala RISN_ABCR:c.1272T>C phenoCommon STGD RISN_ABCR:c.1272T>C protEffect p.Val424Ala RISN_ABCR:c.1335C>G commonName Ser 445 Arg RISN_ABCR:c.1335C>G phenoCommon STGD RISN_ABCR:c.1335C>G protEffect p.Ser445Arg RISN_ABCR:c.1341delG commonName 1341delG RISN_ABCR:c.1341delG phenoCommon STGD RISN_ABCR:c.1344delG commonName 1344delG RISN_ABCR:c.1344delG phenoCommon STGD RISN_ABCR:c.1387_1388delTT commonName 1387delTT RISN_ABCR:c.1387_1388delTT phenoCommon STGD RISN_ABCR:c.1513_1517delATCAC commonName 1513delATCAC RISN_ABCR:c.1513_1517delATCAC phenoCommon STGD RISN_ABCR:c.1526delC commonName 1526delC RISN_ABCR:c.1526delC phenoCommon STGD RISN_ABCR:c.1569T>G commonName Asp 523 Glu RISN_ABCR:c.1569T>G phenoCommon STGD RISN_ABCR:c.1569T>G protEffect p.Asp523Glu RISN_ABCR:c.1575T>G commonName Phe 525 Cys RISN_ABCR:c.1575T>G phenoCommon STGD RISN_ABCR:c.1575T>G protEffect p.Phe525Cys RISN_ABCR:c.1609C>T commonName Arg 537 Cys RISN_ABCR:c.1609C>T phenoCommon STGD RISN_ABCR:c.1609C>T protEffect p.Arg537Cys RISN_ABCR:c.1645G>C commonName Ala 549 Pro RISN_ABCR:c.1645G>C phenoCommon STGD RISN_ABCR:c.1645G>C protEffect p.Ala549Pro RISN_ABCR:c.1648G>A commonName Gly 550 Arg RISN_ABCR:c.1648G>A phenoCommon STGD RISN_ABCR:c.1648G>A protEffect p.Gly550Arg RISN_ABCR:c.1715G>A commonName Arg 572 Gln RISN_ABCR:c.1715G>A phenoCommon STGD RISN_ABCR:c.1715G>A protEffect p.Arg572Gln RISN_ABCR:c.1715G>C commonName Arg 572 Pro RISN_ABCR:c.1715G>C phenoCommon STGD RISN_ABCR:c.1715G>C protEffect p.Arg572Pro RISN_ABCR:c.1804C>T commonName Arg 602 Trp RISN_ABCR:c.1804C>T phenoCommon STGD RISN_ABCR:c.1804C>T protEffect p.Arg602Trp RISN_ABCR:c.1805G>A commonName Arg 602 Gln RISN_ABCR:c.1805G>A phenoCommon STGD RISN_ABCR:c.1805G>A protEffect p.Arg602Gln RISN_ABCR:c.1811T>G commonName Ile 604 Ser RISN_ABCR:c.1811T>G phenoCommon STGD RISN_ABCR:c.1811T>G protEffect p.Ile604Ser RISN_ABCR:c.1819G>T commonName Gly 607 Trp RISN_ABCR:c.1819G>T phenoCommon STGD RISN_ABCR:c.1819G>T protEffect p.Gly607Trp RISN_ABCR:c.1819G>A commonName Gly 607 Arg RISN_ABCR:c.1819G>A phenoCommon STGD RISN_ABCR:c.1819G>A protEffect p.Gly607Arg RISN_ABCR:c.1894delA commonName 1894delA RISN_ABCR:c.1894delA phenoCommon STGD RISN_ABCR:c.1903C>T commonName Gln 635 ter RISN_ABCR:c.1903C>T phenoCommon STGD RISN_ABCR:c.1903C>T protEffect p.Gln635X RISN_ABCR:c.1917C>A commonName Tyr 639 ter RISN_ABCR:c.1917C>A phenoCommon STGD RISN_ABCR:c.1917C>A protEffect p.Tyr639X RISN_ABCR:c.1922G>C commonName Cys 641 Ser RISN_ABCR:c.1922G>C phenoCommon STGD RISN_ABCR:c.1922G>C protEffect p.Cys641Ser RISN_ABCR:c.1927G>A commonName Val 643 Met RISN_ABCR:c.1927G>A phenoCommon STGD RISN_ABCR:c.1927G>A protEffect p.Val643Met RISN_ABCR:c.1933G>A commonName Asp 645 Asn RISN_ABCR:c.1933G>A phenoCommon STGD RISN_ABCR:c.1933G>A protEffect p.Asp645Asn RISN_ABCR:c.1937+2T>C commonName IVS13+2t>c RISN_ABCR:c.1937+2T>C phenoCommon STGD RISN_ABCR:c.1957C>T commonName Arg 653 Cys RISN_ABCR:c.1957C>T phenoCommon STGD RISN_ABCR:c.1957C>T protEffect p.Arg653Cys RISN_ABCR:c.1989G>A commonName Trp 663 ter RISN_ABCR:c.1989G>A phenoCommon STGD RISN_ABCR:c.1989G>A protEffect p.Trp663X RISN_ABCR:c.2005_2006delAT commonName 2005delAT RISN_ABCR:c.2005_2006delAT phenoCommon STGD RISN_ABCR:c.2041C>T commonName Arg 681 ter RISN_ABCR:c.2041C>T phenoCommon STGD RISN_ABCR:c.2041C>T protEffect p.Arg681X RISN_ABCR:c.2090G>A commonName Trp 697 ter RISN_ABCR:c.2090G>A phenoCommon STGD RISN_ABCR:c.2090G>A protEffect p.Trp697X RISN_ABCR:c.2099G>A commonName Trp 700 ter RISN_ABCR:c.2099G>A phenoCommon STGD RISN_ABCR:c.2099G>A protEffect p.Trp700X RISN_ABCR:c.2147C>T commonName Thr 716 Met RISN_ABCR:c.2147C>T phenoCommon STGD RISN_ABCR:c.2147C>T protEffect p.Thr716Met RISN_ABCR:c.2160+1G>C commonName IVS14+1g>c RISN_ABCR:c.2160+1G>C phenoCommon STGD RISN_ABCR:c.2291G>A commonName Cys 764 Tyr RISN_ABCR:c.2291G>A phenoCommon STGD RISN_ABCR:c.2291G>A protEffect p.Cys764Tyr RISN_ABCR:c.2294G>A commonName Ser 765 Asn RISN_ABCR:c.2294G>A phenoCommon STGD RISN_ABCR:c.2294G>A protEffect p.Ser765Asn RISN_ABCR:c.2337C>A commonName Cys 779 ter RISN_ABCR:c.2337C>A phenoCommon STGD RISN_ABCR:c.2337C>A protEffect p.Cys779X RISN_ABCR:c.2385_2400del commonName 2385del16bp RISN_ABCR:c.2385_2400del phenoCommon STGD RISN_ABCR:c.2390T>C commonName Leu 797 Pro RISN_ABCR:c.2390T>C phenoCommon STGD RISN_ABCR:c.2390T>C protEffect p.Leu797Pro RISN_ABCR:c.2461T>A commonName Trp 821 Arg RISN_ABCR:c.2461T>A phenoCommon STGD RISN_ABCR:c.2461T>A protEffect p.Trp821Arg RISN_ABCR:c.2472C>T commonName Ile 824 Thr RISN_ABCR:c.2472C>T phenoCommon STGD RISN_ABCR:c.2472C>T protEffect p.Ile824Thr RISN_ABCR:c.2546T>C commonName Val 849 Ala RISN_ABCR:c.2546T>C phenoCommon STGD RISN_ABCR:c.2546T>C protEffect p.Val849Ala RISN_ABCR:c.2552G>A commonName Gly 851 Asp RISN_ABCR:c.2552G>A phenoCommon STGD RISN_ABCR:c.2552G>A protEffect p.Gly851Asp RISN_ABCR:c.2560G>A commonName Ala 854 Thr RISN_ABCR:c.2560G>A phenoCommon STGD RISN_ABCR:c.2560G>A protEffect p.Ala854Thr RISN_ABCR:c.2565G>A commonName Trp 855 ter RISN_ABCR:c.2565G>A phenoCommon STGD RISN_ABCR:c.2565G>A protEffect p.Trp855X RISN_ABCR:c.2587+1G>A commonName IVS16+1g>a RISN_ABCR:c.2587+1G>A phenoCommon STGD RISN_ABCR:c.2617T>C commonName Phe 873 Leu RISN_ABCR:c.2617T>C phenoCommon STGD RISN_ABCR:c.2617T>C protEffect p.Phe873Leu RISN_ABCR:c.2690C>T commonName Thr 897 Ile RISN_ABCR:c.2690C>T phenoCommon STGD RISN_ABCR:c.2690C>T protEffect p.Thr897Ile RISN_ABCR:c.2692G>A commonName Glu 898 Lys RISN_ABCR:c.2692G>A phenoCommon STGD RISN_ABCR:c.2692G>A protEffect p.Glu898Lys RISN_ABCR:c.2703A>G commonName Thr 901 Arg RISN_ABCR:c.2703A>G phenoCommon STGD RISN_ABCR:c.2703A>G protEffect p.Thr901Arg RISN_ABCR:c.2791G>A commonName Val 931 Met RISN_ABCR:c.2791G>A phenoCommon STGD RISN_ABCR:c.2791G>A protEffect p.Val931Met RISN_ABCR:c.2804T>C commonName Val 935 Ala RISN_ABCR:c.2804T>C phenoCommon STGD RISN_ABCR:c.2804T>C protEffect p.Val935Ala RISN_ABCR:c.2820C>G commonName Pro 940 Arg RISN_ABCR:c.2820C>G phenoCommon STGD RISN_ABCR:c.2820C>G protEffect p.Pro940Arg RISN_ABCR:c.2827C>T commonName Arg 943 Trp RISN_ABCR:c.2827C>T phenoCommon STGD RISN_ABCR:c.2827C>T protEffect p.Arg943Trp RISN_ABCR:c.2860T>G commonName Tyr 954 Asp RISN_ABCR:c.2860T>G phenoCommon STGD RISN_ABCR:c.2860T>G protEffect p.Tyr954Asp RISN_ABCR:c.2870A>G commonName Gln 957 Arg RISN_ABCR:c.2870A>G phenoCommon STGD RISN_ABCR:c.2870A>G protEffect p.Gln957Arg RISN_ABCR:c.2893A>G commonName Asn 965 Ser RISN_ABCR:c.2893A>G phenoCommon STGD RISN_ABCR:c.2893A>G protEffect p.Asn965Ser RISN_ABCR:c.2912C>A commonName Thr 971 Asn RISN_ABCR:c.2912C>A phenoCommon STGD RISN_ABCR:c.2912C>A protEffect p.Thr971Asn RISN_ABCR:c.2915C>A commonName Thr 972 Asn RISN_ABCR:c.2915C>A phenoCommon STGD RISN_ABCR:c.2915C>A protEffect p.Thr972Asn RISN_ABCR:c.2920T>C commonName Ser 974 Pro RISN_ABCR:c.2920T>C phenoCommon STGD RISN_ABCR:c.2920T>C protEffect p.Ser974Pro RISN_ABCR:c.2932G>T commonName Gly 978 Cys RISN_ABCR:c.2932G>T phenoCommon STGD RISN_ABCR:c.2932G>T protEffect p.Gly978Cys RISN_ABCR:c.(?_2919)_(3328_?)del commonName del exon 20 - 22 RISN_ABCR:c.(?_2919)_(3328_?)del phenoCommon STGD RISN_ABCR:c.2933G>A commonName Gly 978 Asp RISN_ABCR:c.2933G>A phenoCommon STGD RISN_ABCR:c.2933G>A protEffect p.Gly978Asp RISN_ABCR:c.2966T>C commonName Val 989 Ala RISN_ABCR:c.2966T>C phenoCommon STGD RISN_ABCR:c.2966T>C protEffect p.Val989Ala RISN_ABCR:c.2971G>T commonName Gly 991 ter RISN_ABCR:c.2971G>T phenoCommon STGD RISN_ABCR:c.2971G>T protEffect p.Gly991X RISN_ABCR:c.2977_2984del commonName 2977del8bp RISN_ABCR:c.2977_2984del phenoCommon STGD RISN_ABCR:c.3041T>G commonName Leu 1014 Arg RISN_ABCR:c.3041T>G phenoCommon STGD RISN_ABCR:c.3041T>G protEffect p.Leu1014Arg RISN_ABCR:c.3055A>G commonName Thr 1019 Ala RISN_ABCR:c.3055A>G phenoCommon STGD RISN_ABCR:c.3055A>G protEffect p.Thr1019Ala RISN_ABCR:c.3057G>T commonName Thr 1019 Met RISN_ABCR:c.3057G>T phenoCommon STGD RISN_ABCR:c.3057G>T protEffect p.Thr1019Met RISN_ABCR:c.3064G>A commonName Glu 1022 Lys RISN_ABCR:c.3064G>A phenoCommon STGD RISN_ABCR:c.3064G>A protEffect p.Glu1022Lys RISN_ABCR:c.3091A>G commonName Lys 1031 Glu RISN_ABCR:c.3091A>G phenoCommon STGD RISN_ABCR:c.3091A>G protEffect p.Lys1031Glu RISN_ABCR:c.3106G>A commonName Glu 1036 Lys RISN_ABCR:c.3106G>A phenoCommon STGD RISN_ABCR:c.3106G>A protEffect p.Glu1036Lys RISN_ABCR:c.3149G>A commonName Gly 1050 Asp RISN_ABCR:c.3149G>A phenoCommon STGD RISN_ABCR:c.3149G>A protEffect p.Gly1050Asp RISN_ABCR:c.3205_3206dupAA commonName 3205insAA RISN_ABCR:c.3205_3206dupAA phenoCommon STGD RISN_ABCR:c.3210_3211insGT commonName 3211insGT RISN_ABCR:c.3210_3211insGT phenoCommon STGD RISN_ABCR:c.3212C>T commonName Ser 1071 Leu RISN_ABCR:c.3212C>T phenoCommon STGD RISN_ABCR:c.3212C>T protEffect p.Ser1071Leu RISN_ABCR:c.3216T>C commonName Val 1072 Ala RISN_ABCR:c.3216T>C phenoCommon STGD RISN_ABCR:c.3216T>C protEffect p.Val1072Ala RISN_ABCR:c.3291A>G commonName Arg 1098 Cys RISN_ABCR:c.3291A>G phenoCommon STGD RISN_ABCR:c.3291A>G protEffect p.Arg1098Cys RISN_ABCR:c.3295T>C commonName Ser 1099 Pro RISN_ABCR:c.3295T>C phenoCommon STGD RISN_ABCR:c.3295T>C protEffect p.Ser1099Pro RISN_ABCR:c.3322C>T commonName Arg 1108 Cys RISN_ABCR:c.3322C>T phenoCommon STGD RISN_ABCR:c.3322C>T protEffect p.Arg1108Cys RISN_ABCR:c.3323G>A commonName Arg 1108 His RISN_ABCR:c.3323G>A phenoCommon STGD RISN_ABCR:c.3323G>A protEffect p.Arg1108His RISN_ABCR:c.3335C>A commonName Thr 1112 Asn RISN_ABCR:c.3335C>A phenoCommon STGD RISN_ABCR:c.3335C>A protEffect p.Thr1112Asn RISN_ABCR:c.3366G>C commonName Glu 1122 Asp RISN_ABCR:c.3366G>C phenoCommon STGD RISN_ABCR:c.3366G>C protEffect p.Glu1122Asp RISN_ABCR:c.3392delC commonName 3392delC RISN_ABCR:c.3392delC phenoCommon STGD RISN_ABCR:c.3531C>A commonName Cys 1177 ter RISN_ABCR:c.3531C>A phenoCommon STGD RISN_ABCR:c.3531C>A protEffect p.Cys1177X RISN_ABCR:c.3602T>G commonName Leu 1201 Arg RISN_ABCR:c.3602T>G phenoCommon STGD RISN_ABCR:c.3602T>G protEffect p.Leu1201Arg RISN_ABCR:c.3610G>A commonName Asp 1204 Asn RISN_ABCR:c.3610G>A phenoCommon STGD RISN_ABCR:c.3610G>A protEffect p.Asp1204Asn RISN_ABCR:c.3749T>C commonName Leu 1250 Pro RISN_ABCR:c.3749T>C phenoCommon STGD RISN_ABCR:c.3749T>C protEffect p.Leu1250Pro RISN_ABCR:c.3835_3840delGATTCT commonName 3835delGATTCT RISN_ABCR:c.3835_3840delGATTCT phenoCommon STGD RISN_ABCR:c.3899G>A commonName Arg 1300 Gln RISN_ABCR:c.3899G>A phenoCommon STGD RISN_ABCR:c.3899G>A protEffect p.Arg1300Gln RISN_ABCR:c.4139C>T commonName Pro 1380 Leu RISN_ABCR:c.4139C>T phenoCommon STGD RISN_ABCR:c.4139C>T protEffect p.Pro1380Leu RISN_ABCR:c.4163T>C commonName Leu 1388 Pro RISN_ABCR:c.4163T>C phenoCommon STGD RISN_ABCR:c.4163T>C protEffect p.Leu1388Pro RISN_ABCR:c.4195G>A commonName Glu 1399 Lys RISN_ABCR:c.4195G>A phenoCommon STGD RISN_ABCR:c.4195G>A protEffect p.Glu1399Lys RISN_ABCR:c.4200C>T commonName Tyr 1400 ter RISN_ABCR:c.4200C>T phenoCommon STGD RISN_ABCR:c.4200C>T protEffect p.Tyr1400X RISN_ABCR:c.4216C>T commonName His 1406 Tyr RISN_ABCR:c.4216C>T phenoCommon STGD RISN_ABCR:c.4216C>T protEffect p.His1406Tyr RISN_ABCR:c.4223G>T commonName Trp 1408 Leu RISN_ABCR:c.4223G>T phenoCommon STGD RISN_ABCR:c.4223G>T protEffect p.Trp1408Leu RISN_ABCR:c.4222T>C commonName Trp 1408 Arg RISN_ABCR:c.4222T>C phenoCommon STGD RISN_ABCR:c.4222T>C protEffect p.Trp1408Arg RISN_ABCR:c.4231_4232insTATG commonName 4232insTATG RISN_ABCR:c.4231_4232insTATG phenoCommon STGD RISN_ABCR:c.4234C>T commonName Gln 1412 ter RISN_ABCR:c.4234C>T phenoCommon STGD RISN_ABCR:c.4234C>T protEffect p.Gln1412X RISN_ABCR:c.4253+5G>T commonName IVS28+5g>t RISN_ABCR:c.4253+5G>T phenoCommon STGD RISN_ABCR:c.4253+1G>T commonName IVS28+1g>t RISN_ABCR:c.4253+1G>T phenoCommon STGD RISN_ABCR:c.4316G>A commonName Gly 1439 Asp RISN_ABCR:c.4316G>A phenoCommon STGD RISN_ABCR:c.4316G>A protEffect p.Gly1439Asp RISN_ABCR:c.4319T>C commonName Phe 1440 Ser RISN_ABCR:c.4319T>C phenoCommon STGD RISN_ABCR:c.4319T>C protEffect p.Phe1440Ser RISN_ABCR:c.4328G>A commonName Arg 1443 His RISN_ABCR:c.4328G>A phenoCommon STGD RISN_ABCR:c.4328G>A protEffect p.Arg1443His RISN_ABCR:c.4346G>A commonName Trp 1449 ter RISN_ABCR:c.4346G>A phenoCommon STGD RISN_ABCR:c.4346G>A protEffect p.Trp1449X RISN_ABCR:c.4353-1G>T commonName IVS29-1g>t RISN_ABCR:c.4353-1G>T phenoCommon STGD RISN_ABCR:c.4457C>T commonName Pro 1486 Leu RISN_ABCR:c.4457C>T phenoCommon STGD RISN_ABCR:c.4457C>T protEffect p.Pro1486Leu RISN_ABCR:c.4462T>C commonName Cys 1488 Arg RISN_ABCR:c.4462T>C phenoCommon STGD RISN_ABCR:c.4462T>C protEffect p.Cys1488Arg RISN_ABCR:c.4463G>T commonName Cys 1488 Phe RISN_ABCR:c.4463G>T phenoCommon STGD RISN_ABCR:c.4463G>T protEffect p.Cys1488Phe RISN_ABCR:c.4468T>A commonName Cys 1490 Tyr RISN_ABCR:c.4468T>A phenoCommon STGD RISN_ABCR:c.4468T>A protEffect p.Cys1490Tyr RISN_ABCR:c.4506C>A commonName Cys 1502 ter RISN_ABCR:c.4506C>A phenoCommon STGD RISN_ABCR:c.4506C>A protEffect p.Cys1502X RISN_ABCR:c.4535C>G commonName Pro 1512 Arg RISN_ABCR:c.4535C>G phenoCommon STGD RISN_ABCR:c.4535C>G protEffect p.Pro1512Arg RISN_ABCR:c.4538A>G commonName Gln 1513 Arg RISN_ABCR:c.4538A>G phenoCommon STGD RISN_ABCR:c.4538A>G protEffect p.Gln1513Arg RISN_ABCR:c.4574T>C commonName Leu 1525 Pro RISN_ABCR:c.4574T>C phenoCommon STGD RISN_ABCR:c.4574T>C protEffect p.Leu1525Pro RISN_ABCR:c.4577C>T commonName Thr 1526 Met RISN_ABCR:c.4577C>T phenoCommon STGD RISN_ABCR:c.4577C>T protEffect p.Thr1526Met RISN_ABCR:c.4594G>A commonName Asp 1532 Asn RISN_ABCR:c.4594G>A phenoCommon STGD RISN_ABCR:c.4594G>A protEffect p.Asp1532Asn RISN_ABCR:c.4610C>T commonName Thr 1537 Met RISN_ABCR:c.4610C>T phenoCommon STGD RISN_ABCR:c.4610C>T protEffect p.Thr1537Met RISN_ABCR:c.4748T>C commonName Leu 1583 Pro RISN_ABCR:c.4748T>C phenoCommon STGD RISN_ABCR:c.4748T>C protEffect p.Leu1583Pro RISN_ABCR:c.4774-2A>C commonName IVS33-2a>c RISN_ABCR:c.4774-2A>C phenoCommon STGD RISN_ABCR:c.4793C>A commonName Ala 1598 Asp RISN_ABCR:c.4793C>A phenoCommon STGD RISN_ABCR:c.4793C>A protEffect p.Ala1598Asp RISN_ABCR:c.4849-1G>C commonName IVS34-1g>c RISN_ABCR:c.4849-1G>C phenoCommon STGD RISN_ABCR:c.4859_4864delins4 commonName 4856del6bpins4bp RISN_ABCR:c.4859_4864delins4 phenoCommon STGD RISN_ABCR:c.4867G>A commonName Gly 1623 Ser RISN_ABCR:c.4867G>A phenoCommon STGD RISN_ABCR:c.4867G>A protEffect p.Gly1623Ser RISN_ABCR:c.4892T>C commonName Leu 1631 Pro RISN_ABCR:c.4892T>C phenoCommon STGD RISN_ABCR:c.4892T>C protEffect p.Leu1631Pro RISN_ABCR:c.4944delC commonName 4944delC RISN_ABCR:c.4944delC phenoCommon STGD RISN_ABCR:c.4954T>G commonName Tyr 1652 Asp RISN_ABCR:c.4954T>G phenoCommon STGD RISN_ABCR:c.4954T>G protEffect p.Tyr1652Asp RISN_ABCR:c.4956T>G commonName Tyr 1652 ter RISN_ABCR:c.4956T>G phenoCommon STGD RISN_ABCR:c.4956T>G protEffect p.Tyr1652X RISN_ABCR:c.5018+2T>C commonName IVS35+2t>c RISN_ABCR:c.5018+2T>C phenoCommon STGD RISN_ABCR:c.5041_5055del commonName 5041del15bp RISN_ABCR:c.5041_5055del phenoCommon STGD RISN_ABCR:c.5077G>A commonName Val 1693 Ile RISN_ABCR:c.5077G>A phenoCommon STGD RISN_ABCR:c.5077G>A protEffect p.Val1693Ile RISN_ABCR:c.5087G>A commonName Ser 1696 Asn RISN_ABCR:c.5087G>A phenoCommon STGD RISN_ABCR:c.5087G>A protEffect p.Ser1696Asn RISN_ABCR:c.5107C>G commonName Gln 1703 Glu RISN_ABCR:c.5107C>G phenoCommon STGD RISN_ABCR:c.5107C>G protEffect p.Gln1703Glu RISN_ABCR:c.5161_5162delAC commonName 5161delAC RISN_ABCR:c.5161_5162delAC phenoCommon STGD RISN_ABCR:c.5186T>C commonName Leu 1729 Pro RISN_ABCR:c.5186T>C phenoCommon STGD RISN_ABCR:c.5186T>C protEffect p.Leu1729Pro RISN_ABCR:c.5206T>C commonName Ser 1736 Pro RISN_ABCR:c.5206T>C phenoCommon STGD RISN_ABCR:c.5206T>C protEffect p.Ser1736Pro RISN_ABCR:c.5212_5222del commonName 5212del11bp RISN_ABCR:c.5212_5222del phenoCommon STGD RISN_ABCR:c.5222_5232delTGGTGGTGGGC commonName 5222delTGGTGGTGGGC RISN_ABCR:c.5222_5232delTGGTGGTGGGC phenoCommon STGD RISN_ABCR:c.5223_5233del commonName 5223del11bp RISN_ABCR:c.5223_5233del phenoCommon STGD RISN_ABCR:c.5281_5289del commonName 5281del9bp RISN_ABCR:c.5281_5289del phenoCommon STGD RISN_ABCR:c.5316G>A commonName Trp 1772 ter RISN_ABCR:c.5316G>A phenoCommon STGD RISN_ABCR:c.5316G>A protEffect p.Trp1772X RISN_ABCR:c.5327_5328delinsTG commonName Pro 1776 Leu RISN_ABCR:c.5327_5328delinsTG phenoCommon STGD RISN_ABCR:c.5327_5328delinsTG protEffect p.Pro1776Leu RISN_ABCR:c.5337C>G commonName Tyr 1779 ter RISN_ABCR:c.5337C>G phenoCommon STGD RISN_ABCR:c.5337C>G protEffect p.Tyr1779X RISN_ABCR:c.5395A>G commonName Asn 1799 Asp RISN_ABCR:c.5395A>G phenoCommon STGD RISN_ABCR:c.5395A>G protEffect p.Asn1799Asp RISN_ABCR:c.5459G>C commonName Arg 1820 Pro RISN_ABCR:c.5459G>C phenoCommon STGD RISN_ABCR:c.5459G>C protEffect p.Arg1820Pro RISN_ABCR:c.5512C>T commonName His 1838 Tyr RISN_ABCR:c.5512C>T phenoCommon STGD RISN_ABCR:c.5512C>T protEffect p.His1838Tyr RISN_ABCR:c.5527C>T commonName Arg 1843 Trp RISN_ABCR:c.5527C>T phenoCommon STGD RISN_ABCR:c.5527C>T protEffect p.Arg1843Trp RISN_ABCR:c.5537T>C commonName Ile 1846 Thr RISN_ABCR:c.5537T>C phenoCommon STGD RISN_ABCR:c.5537T>C protEffect p.Ile1846Thr RISN_ABCR:c.5584+5G>A commonName IVS39+5g>a RISN_ABCR:c.5584+5G>A phenoCommon STGD RISN_ABCR:c.5584+6T>C commonName IVS39+6t>c RISN_ABCR:c.5584+6T>C phenoCommon STGD RISN_ABCR:c.5585-1G>A commonName IVS39-1g>a RISN_ABCR:c.5585-1G>A phenoCommon STGD RISN_ABCR:c.5644A>G commonName Met 1882 Val RISN_ABCR:c.5644A>G phenoCommon STGD RISN_ABCR:c.5644A>G protEffect p.Met1882Val RISN_ABCR:c.5651T>A commonName Val 1884 Glu RISN_ABCR:c.5651T>A phenoCommon STGD RISN_ABCR:c.5651T>A protEffect p.Val1884Glu RISN_ABCR:c.5657G>A commonName Gly 1886 Glu RISN_ABCR:c.5657G>A phenoCommon STGD RISN_ABCR:c.5657G>A protEffect p.Gly1886Glu RISN_ABCR:c.5668_5670delTTC commonName 5668delTTC RISN_ABCR:c.5668_5670delTTC phenoCommon STGD RISN_ABCR:c.5687T>A commonName Val 1896 Asp RISN_ABCR:c.5687T>A phenoCommon STGD RISN_ABCR:c.5687T>A protEffect p.Val1896Asp RISN_ABCR:c.5836-2delA commonName IVS41-2del a RISN_ABCR:c.5836-2delA phenoCommon STGD RISN_ABCR:c.5898+1G>T commonName IVS42+1g>t RISN_ABCR:c.5898+1G>T phenoCommon STGD RISN_ABCR:c.5929G>A commonName Gly 1977 Ser RISN_ABCR:c.5929G>A phenoCommon STGD RISN_ABCR:c.5929G>A protEffect p.Gly1977Ser RISN_ABCR:c.5961_5964delGGAC commonName 5961delGGAC RISN_ABCR:c.5961_5964delGGAC phenoCommon STGD RISN_ABCR:c.6089G>A commonName Arg 2030 Gln RISN_ABCR:c.6089G>A phenoCommon STGD RISN_ABCR:c.6089G>A protEffect p.Arg2030Gln RISN_ABCR:c.6104T>C commonName Leu 2035 Pro RISN_ABCR:c.6104T>C phenoCommon STGD RISN_ABCR:c.6104T>C protEffect p.Leu2035Pro RISN_ABCR:c.6112C>T commonName Arg 2038 Trp RISN_ABCR:c.6112C>T phenoCommon STGD RISN_ABCR:c.6112C>T protEffect p.Arg2038Trp RISN_ABCR:c.6166A>T commonName Lys 2056 ter RISN_ABCR:c.6166A>T phenoCommon STGD RISN_ABCR:c.6166A>T protEffect p.Lys2056X RISN_ABCR:c.6213C>T commonName Tyr 2071 Phe RISN_ABCR:c.6213C>T phenoCommon STGD RISN_ABCR:c.6213C>T protEffect p.Tyr2071Phe RISN_ABCR:c.6229C>T commonName Arg 2077 Trp RISN_ABCR:c.6229C>T phenoCommon STGD RISN_ABCR:c.6229C>T protEffect p.Arg2077Trp RISN_ABCR:c.6286G>A commonName Glu 2096 Lys RISN_ABCR:c.6286G>A phenoCommon STGD RISN_ABCR:c.6286G>A protEffect p.Glu2096Lys RISN_ABCR:c.6300delG commonName 6300delG RISN_ABCR:c.6300delG phenoCommon STGD RISN_ABCR:c.6316C>T commonName Arg 2106 Cys RISN_ABCR:c.6316C>T phenoCommon STGD RISN_ABCR:c.6316C>T protEffect p.Arg2106Cys RISN_ABCR:c.6320G>A commonName Arg 2107 His RISN_ABCR:c.6320G>A phenoCommon STGD RISN_ABCR:c.6320G>A protEffect p.Arg2107His RISN_ABCR:c.6339C>G commonName Ile 2113 Met RISN_ABCR:c.6339C>G phenoCommon STGD RISN_ABCR:c.6339C>G protEffect p.Ile2113Met RISN_ABCR:c.6352delA commonName 6352delA RISN_ABCR:c.6352delA phenoCommon STGD RISN_ABCR:c.6383A>G commonName His 2128 Arg RISN_ABCR:c.6383A>G phenoCommon STGD RISN_ABCR:c.6383A>G protEffect p.His2128Arg RISN_ABCR:c.6391G>A commonName Glu 2131 Lys RISN_ABCR:c.6391G>A phenoCommon STGD RISN_ABCR:c.6391G>A protEffect p.Glu2131Lys RISN_ABCR:c.6415C>T commonName Arg 2139 Trp RISN_ABCR:c.6415C>T phenoCommon STGD RISN_ABCR:c.6415C>T protEffect p.Arg2139Trp RISN_ABCR:c.6445C>T commonName Arg 2149 ter RISN_ABCR:c.6445C>T phenoCommon STGD RISN_ABCR:c.6445C>T protEffect p.Arg2149X RISN_ABCR:c.6446G>T commonName Arg 2149 Leu RISN_ABCR:c.6446G>T phenoCommon STGD RISN_ABCR:c.6446G>T protEffect p.Arg2149Leu RISN_ABCR:c.6448T>C commonName Cys 2150 Arg RISN_ABCR:c.6448T>C phenoCommon STGD RISN_ABCR:c.6448T>C protEffect p.Cys2150Arg RISN_ABCR:c.6479A>G commonName Lys 2160 Arg RISN_ABCR:c.6479A>G phenoCommon STGD RISN_ABCR:c.6479A>G protEffect p.Lys2160Arg RISN_ABCR:c.6543_6578del commonName 6543del36bp RISN_ABCR:c.6543_6578del phenoCommon STGD RISN_ABCR:c.6563T>C commonName Phe 2188 Ser RISN_ABCR:c.6563T>C phenoCommon STGD RISN_ABCR:c.6563T>C protEffect p.Phe2188Ser RISN_ABCR:c.6686T>C commonName Leu 2229 Pro RISN_ABCR:c.6686T>C phenoCommon STGD RISN_ABCR:c.6686T>C protEffect p.Leu2229Pro RISN_ABCR:c.6707_6714delTCACACAG commonName 6707delTCACACAG RISN_ABCR:c.6707_6714delTCACACAG phenoCommon STGD RISN_ABCR:c.6708_6709insG commonName 6709insG RISN_ABCR:c.6708_6709insG phenoCommon STGD RISN_ABCR:c.6729+1G>A commonName IVS48+1g>a RISN_ABCR:c.6729+1G>A phenoCommon STGD RISN_ABCR:c.6748delA commonName 6748delA RISN_ABCR:c.6748delA phenoCommon STGD RISN_ABCR:c.6788G>T commonName Arg 2263 Leu RISN_ABCR:c.6788G>T phenoCommon STGD RISN_ABCR:c.6788G>T protEffect p.Arg2263Leu RISN_ABCR:c.2828G>A commonName Arg 943 Gln RISN_ABCR:c.2828G>A phenoCommon STGD + AMD RISN_ABCR:c.2828G>A protEffect p.Arg943Gln RISN_ABCR:c.3050+5G>A commonName IVS20+5g>a RISN_ABCR:c.3050+5G>A phenoCommon STGD + AMD RISN_ABCR:c.5451T>G commonName Asp 1817 Glu RISN_ABCR:c.5451T>G phenoCommon STGD, AMD RISN_ABCR:c.5451T>G protEffect p.Asp1817Glu RISN_ABCR:c.6764G>T commonName Ser 2255 Ile RISN_ABCR:c.6764G>T phenoCommon STGD, AMD RISN_ABCR:c.6764G>T protEffect p.Ser2255Ile RISN_ABCR:c.1938-1G>A commonName IVS13-1g>a RISN_ABCR:c.1938-1G>A phenoCommon STGD, ARRP RISN_ABCR:c.1220C>T commonName Ala 407 Val RISN_ABCR:c.1220C>T phenoCommon STGD, arCRD RISN_ABCR:c.1220C>T protEffect p.Ala407Val RISN_RPGRIP:c.1639G>T commonName Ala 547 Ser RISN_RPGRIP:c.1639G>T phenoCommon CRD RISN_RPGRIP:c.1639G>T protEffect p.Ala547Ser RISN_RPGRIP:c.2480G>T commonName Arg 827 Leu RISN_RPGRIP:c.2480G>T phenoCommon CRD RISN_RPGRIP:c.2480G>T protEffect p.Arg827Leu RISN_RPGRIP:c.195G>A commonName Trp 65 ter RISN_RPGRIP:c.195G>A phenoCommon LCA7 RISN_RPGRIP:c.195G>A protEffect p.Trp65X RISN_RPGRIP:c.511delT commonName 511delT RISN_RPGRIP:c.511delT phenoCommon LCA7 RISN_RPGRIP:c.1103delA commonName 1103delA RISN_RPGRIP:c.1103delA phenoCommon LCA7 RISN_RPGRIP:c.1525C>T commonName Gln 509 ter RISN_RPGRIP:c.1525C>T phenoCommon LCA7 RISN_RPGRIP:c.1525C>T protEffect p.Gln509X RISN_RPGRIP:c.15500_15501insTGTC commonName 1501insTGTC RISN_RPGRIP:c.15500_15501insTGTC phenoCommon LCA7 RISN_RPGRIP:c.2237G>A commonName Gly 764 Glu RISN_RPGRIP:c.2237G>A phenoCommon LCA7 RISN_RPGRIP:c.2237G>A protEffect p.Gly764Glu RISN_RPGRIP:c.2565_2566insTT commonName 2566insTT RISN_RPGRIP:c.2565_2566insTT phenoCommon LCA7 RISN_RPGRIP:c.2759dupA commonName 2759insA RISN_RPGRIP:c.2759dupA phenoCommon LCA7 RISN_RPGRIP:c.3609delT commonName 3609delT RISN_RPGRIP:c.3609delT phenoCommon LCA7 RISN_RPGRIP:c.3628_3629insG commonName 3629insG RISN_RPGRIP:c.3628_3629insG phenoCommon LCA7 RISN_RPGRIP:c.3835_3837delGAG commonName 3835delGAG RISN_RPGRIP:c.3835_3837delGAG phenoCommon LCA7 RISN_RPGRIP:c.287C>A commonName Pro 96 Gln RISN_RPGRIP:c.287C>A protEffect p.Pro96Gln RISN_RPGRIP:c.525A>G commonName Pro 175 Pro RISN_RPGRIP:c.525A>G protEffect p.Pro175Pro RISN_RPGRIP:c.574A>G commonName Lys 192 Glu RISN_RPGRIP:c.574A>G protEffect p.Lys192Glu RISN_RPGRIP:c.1797G>A commonName Pro 572 Pro RISN_RPGRIP:c.1797G>A protEffect p.Pro572Pro RISN_RPGRIP:c.3546C>T commonName Asp 1182 Asp RISN_RPGRIP:c.3546C>T protEffect p.Asp1182Asp RISN_RPGRIP:c.3780A>T commonName Ile 1260 Ile RISN_RPGRIP:c.3780A>T protEffect p.Ile1260Ile RISN_RPGRIP:c.256C>T commonName Arg 86 Trp RISN_RPGRIP:c.256C>T phenoCommon Uncertain Pathogeneity RISN_RPGRIP:c.256C>T protEffect p.Arg86Trp RISN_RPGRIP:c.1707T>G commonName Gln 589 His RISN_RPGRIP:c.1707T>G phenoCommon Uncertain Pathogeneity RISN_RPGRIP:c.1707T>G protEffect p.Gln589His RISN_RPGRIP:c.2627A>G commonName Asp 876 Gly RISN_RPGRIP:c.2627A>G phenoCommon Uncertain Pathogeneity RISN_RPGRIP:c.2627A>G protEffect p.Asp876Gly RISN_RPE65:c.2T>C commonName Met 1 Thr RISN_RPE65:c.2T>C phenoCommon LCA2, ARRP RISN_RPE65:c.2T>C protEffect p.Met1Thr RISN_RPE65:c.11+34T>A commonName IVS1+34t/a RISN_RPE65:c.11+5G>A commonName IVS1+5g>a RISN_RPE65:c.11+5G>A phenoCommon LCA2, ARRP RISN_RPE65:c.48T>C commonName Phe 16 Phe RISN_RPE65:c.48T>C protEffect p.Phe16Phe RISN_RPE65:c.57_58delGG commonName 57delGG RISN_RPE65:c.57_58delGG phenoCommon LCA RISN_RPE65:c.65T>C commonName Leu 22 Pro RISN_RPE65:c.65T>C phenoCommon LCA RISN_RPE65:c.65T>C protEffect p.Leu22Pro RISN_RPE65:c.89_90insT commonName 90insT RISN_RPE65:c.89_90insT phenoCommon LCA RISN_RPE65:c.95G>T commonName Gly 32 Val RISN_RPE65:c.95G>T protEffect p.Gly32Val RISN_RPE65:c.95-2A>T commonName IVS2-2a>t RISN_RPE65:c.95-2A>T phenoCommon LCA RISN_RPE65:c.106_114delCTCTGGCTC commonName 106delCTCTGGCTC RISN_RPE65:c.118G>A commonName Gly 40 Ser RISN_RPE65:c.118G>A phenoCommon LCA RISN_RPE65:c.118G>A protEffect p.Gly40Ser RISN_RPE65:c.131G>A commonName Arg 44 Gln RISN_RPE65:c.131G>A phenoCommon LCA RISN_RPE65:c.131G>A protEffect p.Arg44Gln RISN_RPE65:c.136delG commonName 136delG RISN_RPE65:c.136delG phenoCommon LCA RISN_RPE65:c.202C>T commonName His 68 Tyr RISN_RPE65:c.202C>T phenoCommon LCA RISN_RPE65:c.202C>T protEffect p.His68Tyr RISN_RPE65:c.208_209delinsGG commonName Phe 70 Val RISN_RPE65:c.208_209delinsGG protEffect p.Phe70Val RISN_RPE65:c.231C>A commonName Val 77 Val RISN_RPE65:c.231C>A protEffect p.Val77Val RISN_RPE65:c.235T>C commonName Tyr 79 His RISN_RPE65:c.235T>C phenoCommon ARRP RISN_RPE65:c.235T>C protEffect p.Tyr79His RISN_RPE65:c.254G>A commonName Arg 85 His RISN_RPE65:c.254G>A phenoCommon ARRP RISN_RPE65:c.254G>A protEffect p.Arg85His RISN_RPE65:c.271C>T commonName Arg 91 Trp RISN_RPE65:c.271C>T phenoCommon LCA2, ARRP RISN_RPE65:c.271C>T protEffect p.Arg91Trp RISN_RPE65:c.271_272insA commonName 272insA RISN_RPE65:c.272G>A commonName Arg 91 Gln RISN_RPE65:c.272G>A phenoCommon LCA RISN_RPE65:c.272G>A protEffect p.Arg91Gln RISN_RPE65:c.272G>C commonName Arg 91 Pro RISN_RPE65:c.272G>C protEffect p.Arg91Pro RISN_RPE65:c.283G>C commonName Glu 95 Gln RISN_RPE65:c.283G>C phenoCommon ARRP RISN_RPE65:c.283G>C protEffect p.Glu95Gln RISN_RPE65:c.290_309del commonName 290del20bp RISN_RPE65:c.290_309del phenoCommon LCA RISN_RPE65:c.304G>A commonName Glu 102 Lys RISN_RPE65:c.304G>A phenoCommon LCA2, ARRP RISN_RPE65:c.304G>A protEffect p.Glu102Lys RISN_RPE65:c.304G>T commonName Glu 102 ter RISN_RPE65:c.304G>T phenoCommon LCA2, ARRP RISN_RPE65:c.304G>T protEffect p.Glu102X RISN_RPE65:c.311G>T commonName Gly 104 Val RISN_RPE65:c.311G>T protEffect p.Gly104Val RISN_RPE65:c.353+1G>T commonName IVS4+1g>t RISN_RPE65:c.353+1G>T phenoCommon LCA RISN_RPE65:c.370C>T commonName Arg 124 ter RISN_RPE65:c.370C>T phenoCommon LCA RISN_RPE65:c.370C>T protEffect p.Arg124X RISN_RPE65:c.394G>A commonName Ala 132 Thr RISN_RPE65:c.394G>A phenoCommon ARRP RISN_RPE65:c.394G>A protEffect p.Ala132Thr RISN_RPE65:c.399T>C commonName Leu 133 Leu RISN_RPE65:c.399T>C protEffect p.Leu133Leu RISN_RPE65:c.430T>G commonName Tyr 144 Asp RISN_RPE65:c.430T>G phenoCommon LCA RISN_RPE65:c.430T>G protEffect p.Tyr144Asp RISN_RPE65:c.432C>T commonName Tyr 144 Tyr RISN_RPE65:c.432C>T protEffect p.Tyr144Tyr RISN_RPE65:c.444G>T commonName Glu 148 Asp RISN_RPE65:c.444G>T phenoCommon LCA RISN_RPE65:c.444G>T protEffect p.Glu148Asp RISN_RPE65:c.495_495+1insG commonName IVS5+1insg RISN_RPE65:c.499G>T commonName Asp 167 Tyr RISN_RPE65:c.499G>T phenoCommon ARRP RISN_RPE65:c.499G>T protEffect p.Asp167Tyr RISN_RPE65:c.544C>A commonName His 182 Asn RISN_RPE65:c.544C>A phenoCommon LCA RISN_RPE65:c.544C>A protEffect p.His182Asn RISN_RPE65:c.544C>T commonName His 182 Tyr RISN_RPE65:c.544C>T phenoCommon LCA RISN_RPE65:c.544C>T protEffect p.His182Tyr RISN_RPE65:c.570C>T commonName Tyr 190 Tyr RISN_RPE65:c.570C>T protEffect p.Tyr190Tyr RISN_RPE65:c.609C>T commonName Ala 203 Ala RISN_RPE65:c.609C>T protEffect p.Ala203Ala RISN_RPE65:c.614A>G commonName Asn 205 Ser RISN_RPE65:c.614A>G phenoCommon Rare Variant RISN_RPE65:c.614A>G protEffect p.Asn205Ser RISN_RPE65:c.615_616delCA commonName 615delCA RISN_RPE65:c.615_616delCA phenoCommon LCA2, ARRP RISN_RPE65:c.643+1G>C commonName IVS6+1g>c RISN_RPE65:c.643+1G>C phenoCommon LCA RISN_RPE65:c.643+5G>A commonName IVS6+5g>a RISN_RPE65:c.643+5G>A phenoCommon ARRP RISN_RPE65:c.644-2A>T commonName IVS6-2a>t RISN_RPE65:c.644-2A>T phenoCommon LCA RISN_RPE65:c.644A>G commonName Asp 215 Gly RISN_RPE65:c.644A>G protEffect p.Asp215Gly RISN_RPE65:c.644-1G>T commonName IVS6-1g>t RISN_RPE65:c.644-33G>C commonName IVS6-33g/c RISN_RPE65:c.644-42delT commonName IVS6-42del t RISN_RPE65:c.644-43delA commonName IVS6-43del a RISN_RPE65:c.700C>T commonName Arg 234 ter RISN_RPE65:c.700C>T phenoCommon LCA RISN_RPE65:c.700C>T protEffect p.Arg234X RISN_RPE65:c.715T>G commonName Tyr 239 Asp RISN_RPE65:c.715T>G phenoCommon LCA RISN_RPE65:c.715T>G protEffect p.Tyr239Asp RISN_RPE65:c.725+4A>G commonName IVS7+4a>g RISN_RPE65:c.725+4A>G phenoCommon ARRP RISN_RPE65:c.777_784del commonName 777del8bp RISN_RPE65:c.777_784del phenoCommon LCA RISN_RPE65:c.858+1G>A commonName IVS8+1g>a RISN_RPE65:c.858+1G>A phenoCommon LCA RISN_RPE65:c.858+1G>T commonName IVS8+1g>t RISN_RPE65:c.858+1G>T phenoCommon LCA RISN_RPE65:c.858+4A>G commonName IVS8+4a>g RISN_RPE65:c.858+4A>G phenoCommon LCA RISN_RPE65:c.859G>T commonName Val 287 Phe RISN_RPE65:c.859G>T phenoCommon LCA RISN_RPE65:c.859G>T protEffect p.Val287Phe RISN_RPE65:c.881A>C commonName Lys 294 Thr RISN_RPE65:c.881A>C phenoCommon Rare Variant RISN_RPE65:c.881A>C protEffect p.Lys294Thr RISN_RPE65:c.889delA commonName 889delA RISN_RPE65:c.889delA phenoCommon LCA RISN_RPE65:c.894delG commonName 894delG RISN_RPE65:c.894delG phenoCommon LCA RISN_RPE65:c.907A>T commonName Lys 303 ter RISN_RPE65:c.907A>T phenoCommon LCA RISN_RPE65:c.907A>T protEffect p.Lys303X RISN_RPE65:c.952T>A commonName Tyr 318 Asn RISN_RPE65:c.952T>A protEffect p.Tyr318Asn RISN_RPE65:c.962dupA commonName 962insA RISN_RPE65:c.962dupA phenoCommon LCA RISN_RPE65:c.978G>T commonName Val 326 Val RISN_RPE65:c.978G>T protEffect p.Val326Val RISN_RPE65:c.989G>A commonName Cys 330 Tyr RISN_RPE65:c.989G>A phenoCommon LCA RISN_RPE65:c.989G>A protEffect p.Cys330Tyr RISN_RPE65:c.1022T>C commonName Leu 341 Ser RISN_RPE65:c.1022T>C phenoCommon ARRP RISN_RPE65:c.1022T>C protEffect p.Leu341Ser RISN_RPE65:c.1046_1047insTGG commonName 1047insTGG RISN_RPE65:c.1046_1047insTGG phenoCommon LCA RISN_RPE65:c.1053A>G commonName Glu 351 Glu RISN_RPE65:c.1053A>G protEffect p.Glu351Glu RISN_RPE65:c.1056G>A commonName Glu 352 Glu RISN_RPE65:c.1056G>A protEffect p.Glu352Glu RISN_RPE65:c.1060delA commonName 1060delA RISN_RPE65:c.1060delA phenoCommon LCA RISN_RPE65:c.1068_1069ins1 commonName 1069ins1bp RISN_RPE65:c.1068_1069ins1 phenoCommon LCA RISN_RPE65:c.1078G>C commonName Ala 360 Pro RISN_RPE65:c.1078G>C protEffect p.Ala360Pro RISN_RPE65:c.1102T>C commonName Tyr 368 His RISN_RPE65:c.1102T>C phenoCommon RCD, early onset RISN_RPE65:c.1102T>C protEffect p.Tyr368His RISN_RPE65:c.1103A>G commonName Tyr 368 Cys RISN_RPE65:c.1103A>G protEffect p.Tyr368Cys RISN_RPE65:c.1120delA commonName 1120delA RISN_RPE65:c.1120delA phenoCommon LCA RISN_RPE65:c.1155G>A commonName Thr 385 Thr RISN_RPE65:c.1155G>A protEffect p.Thr385Thr RISN_RPE65:c.1178C>G commonName Ala 393 Gly RISN_RPE65:c.1178C>G phenoCommon LCA RISN_RPE65:c.1178C>G protEffect p.Ala393Gly RISN_RPE65:c.1207_1210dupCTGG commonName 1207dupCTGG RISN_RPE65:c.1207_1210dupCTGG phenoCommon ARRP RISN_RPE65:c.1208T>C commonName Leu 403 Pro RISN_RPE65:c.1208T>C protEffect p.Leu403Pro RISN_RPE65:c.1220T>C commonName Val 407 Ala RISN_RPE65:c.1220T>C phenoCommon Rare Variant RISN_RPE65:c.1220T>C protEffect p.Val407Ala RISN_RPE65:c.1223T>C commonName Leu 408 Pro RISN_RPE65:c.1223T>C protEffect p.Leu408Pro RISN_RPE65:c.1249G>C commonName Glu 417 Gln RISN_RPE65:c.1249G>C phenoCommon LCA RISN_RPE65:c.1249G>C protEffect p.Glu417Gln RISN_RPE65:c.1292A>G commonName Tyr 431 Cys RISN_RPE65:c.1292A>G protEffect p.Tyr431Cys RISN_RPE65:c.1301C>T commonName Ala 434 Val RISN_RPE65:c.1301C>T phenoCommon LCA RISN_RPE65:c.1301C>T protEffect p.Ala434Val RISN_RPE65:c.1302G>C commonName Ala 434 Ala RISN_RPE65:c.1302G>C protEffect p.Ala434Ala RISN_RPE65:c.1304A>G commonName Tyr 435 Cys RISN_RPE65:c.1304A>G phenoCommon LCA RISN_RPE65:c.1304A>G protEffect p.Tyr435Cys RISN_RPE65:c.1307G>T commonName Gly 436 Val RISN_RPE65:c.1307G>T phenoCommon LCA RISN_RPE65:c.1307G>T protEffect p.Gly436Val RISN_RPE65:c.1338+20A>C commonName IVS12+20a/c RISN_RPE65:c.1350G>T commonName Leu 450 Arg RISN_RPE65:c.1350G>T phenoCommon LCA RISN_RPE65:c.1350G>T protEffect p.Leu450Arg RISN_RPE65:c.1355T>G commonName Val 452 Gly RISN_RPE65:c.1355T>G phenoCommon ARRP RISN_RPE65:c.1355T>G protEffect p.Val452Gly RISN_RPE65:c.1370C>A commonName Thr 457 Asn RISN_RPE65:c.1370C>A phenoCommon LCA RISN_RPE65:c.1370C>A protEffect p.Thr457Asn RISN_RPE65:c.1384G>T commonName Glu 462 ter RISN_RPE65:c.1384G>T phenoCommon LCA RISN_RPE65:c.1384G>T protEffect p.Glu462X RISN_RPE65:c.1418T>A commonName Val 473 Asp RISN_RPE65:c.1418T>A phenoCommon LCA RISN_RPE65:c.1418T>A protEffect p.Val473Asp RISN_RPE65:c.1451G>A commonName Gly 484 Asp RISN_RPE65:c.1451G>A protEffect p.Gly484Asp RISN_RPE65:c.1451-22C>T commonName IVS13-22c/t RISN_RPE65:c.1543C>T commonName Arg 515 Trp RISN_RPE65:c.1543C>T phenoCommon LCA RISN_RPE65:c.1543C>T protEffect p.Arg515Trp RISN_RPE65:c.1559T>C commonName Ile 520 Thr RISN_RPE65:c.1559T>C protEffect p.Ile520Thr RISN_RPE65:c.1590delC commonName 1590delC RISN_AIPL1:c.1053_1064del commonName 1053del12bp RISN_AIPL1:c.1053_1064del phenoCommon adCRD RISN_AIPL1:c.97-9G>A commonName IVS1-9g-a RISN_AIPL1:c.276+66G>C commonName IVS2+66g-c RISN_AIPL1:c.277-88C>T commonName IVS2-88c-t RISN_AIPL1:c.277-14G>A commonName IVS2-14g-a RISN_AIPL1:c.277-10A>C commonName IVS2-10a-c RISN_AIPL1:c.466-25C>T commonName IVS3-25c-t RISN_AIPL1:c.466-22T>C commonName IVS3-22t-c RISN_AIPL1:c.784+18G>A commonName IVS5+18g-a RISN_AIPL1:c.268G>C commonName Asp 90 His RISN_AIPL1:c.268G>C phenoCommon Benign Variant RISN_AIPL1:c.268G>C protEffect p.Asp90His RISN_AIPL1:c.157C>T commonName Arg 53 Trp RISN_AIPL1:c.157C>T phenoCommon LCA4 RISN_AIPL1:c.157C>T protEffect p.Arg53Trp RISN_AIPL1:c.236T>C commonName Met 79 Thr RISN_AIPL1:c.236T>C phenoCommon LCA4 RISN_AIPL1:c.236T>C protEffect p.Met79Thr RISN_AIPL1:c.264G>A commonName Trp 88 ter RISN_AIPL1:c.264G>A phenoCommon LCA4 RISN_AIPL1:c.264G>A protEffect p.Trp88X RISN_AIPL1:c.277-2A>G commonName IVS2-2a-g RISN_AIPL1:c.277-2A>G phenoCommon LCA4 RISN_AIPL1:c.286G>A commonName Val 96 Ile RISN_AIPL1:c.286G>A phenoCommon LCA4 RISN_AIPL1:c.286G>A protEffect p.Val96Ile RISN_AIPL1:c.341C>T commonName Thr 114 Ile RISN_AIPL1:c.341C>T phenoCommon LCA4 RISN_AIPL1:c.341C>T protEffect p.Thr114Ile RISN_AIPL1:c.487C>T commonName Gln163 ter RISN_AIPL1:c.487C>T phenoCommon LCA4 RISN_AIPL1:c.487C>T protEffect p.Gln163X RISN_AIPL1:c.589G>C commonName Ala 197 Pro RISN_AIPL1:c.589G>C phenoCommon LCA4 RISN_AIPL1:c.589G>C protEffect p.Ala197Pro RISN_AIPL1:c.617T>A commonName Ile 206 Asn RISN_AIPL1:c.617T>A phenoCommon LCA4 RISN_AIPL1:c.617T>A protEffect p.Ile206Asn RISN_AIPL1:c.715T>C commonName Cys 239 Arg RISN_AIPL1:c.715T>C phenoCommon LCA4 RISN_AIPL1:c.715T>C protEffect p.Cys239Arg RISN_AIPL1:c.784G>A commonName Gly 262 Ser RISN_AIPL1:c.784G>A phenoCommon LCA4 RISN_AIPL1:c.784G>A protEffect p.Gly262Ser RISN_AIPL1:c.834G>A commonName Trp 278 ter RISN_AIPL1:c.834G>A phenoCommon LCA4 RISN_AIPL1:c.834G>A protEffect p.Trp278X RISN_AIPL1:c.905G>T commonName Arg 302 Leu RISN_AIPL1:c.905G>T phenoCommon LCA4 RISN_AIPL1:c.905G>T protEffect p.Arg302Leu RISN_AIPL1:c.1010_1011delAG commonName 1010delAG RISN_AIPL1:c.1010_1011delAG phenoCommon LCA4 RISN_AIPL1:c.1126C>T commonName Pro 376 Ser RISN_AIPL1:c.1126C>T phenoCommon LCA4 RISN_AIPL1:c.1126C>T protEffect p.Pro376Ser RISN_AIPL1:c.111C>T commonName Phe 37 Phe RISN_AIPL1:c.111C>T protEffect p.Phe37Phe RISN_AIPL1:c.234C>T commonName Ser 78 Ser RISN_AIPL1:c.234C>T protEffect p.Ser78Ser RISN_AIPL1:c.267C>T commonName Cys 89 Cys RISN_AIPL1:c.267C>T protEffect p.Cys89Cys RISN_AIPL1:c.516T>C commonName His 172 His RISN_AIPL1:c.516T>C protEffect p.His172His RISN_AIPL1:c.651A>G commonName Pro 217 Pro RISN_AIPL1:c.651A>G protEffect p.Pro217Pro RISN_AIPL1:c.765T>C commonName Asp 255 Asp RISN_AIPL1:c.765T>C protEffect p.Asp255Asp RISN_NYX:c.556_605delins3 commonName 556del50ins3bp RISN_NYX:c.556_605delins3 phenoCommon CSNB1 RISN_NYX:c.85_108del commonName 85del24bp RISN_NYX:c.85_108del phenoCommon CSNB1 RISN_NYX:c.92G>C commonName Cys 31 Ser RISN_NYX:c.92G>C phenoCommon CSNB1 RISN_NYX:c.92G>C protEffect p.Cys31Ser RISN_NYX:c.105C>A commonName Cys 31 ter RISN_NYX:c.105C>A phenoCommon CSNB1 RISN_NYX:c.105C>A protEffect p.Cys31X RISN_NYX:c.340_354del commonName 340del15bp RISN_NYX:c.340_354del phenoCommon CSNB1 RISN_NYX:c.427G>C commonName Ala 143 Pro RISN_NYX:c.427G>C phenoCommon CSNB1 RISN_NYX:c.427G>C protEffect p.Ala143Pro RISN_NYX:c.452C>T commonName Pro 151 Leu RISN_NYX:c.452C>T phenoCommon CSNB1 RISN_NYX:c.452C>T protEffect p.Pro151Leu RISN_NYX:c.463_464ins21 commonName 464ins21bp RISN_NYX:c.463_464ins21 phenoCommon CSNB1 RISN_NYX:c.524C>G commonName Pro 175 Arg RISN_NYX:c.524C>G phenoCommon CSNB1 RISN_NYX:c.524C>G protEffect p.Pro175Arg RISN_NYX:c.551T>C commonName Leu 184 Pro RISN_NYX:c.551T>C phenoCommon CSNB1 RISN_NYX:c.551T>C protEffect p.Leu184Pro RISN_NYX:c.559_560delinsAA commonName Ala 187 Lys RISN_NYX:c.559_560delinsAA phenoCommon CSNB1 RISN_NYX:c.559_560delinsAA protEffect p.Ala187Lys RISN_NYX:c.618_619ins9 commonName 619ins9bp RISN_NYX:c.618_619ins9 phenoCommon CSNB1 RISN_NYX:c.620_621ins9 commonName 207ins9bp RISN_NYX:c.620_621ins9 phenoCommon CSNB1 RISN_NYX:c.627_628ins9 commonName 628ins9bp RISN_NYX:c.627_628ins9 phenoCommon CSNB1 RISN_NYX:c.638T>A commonName Leu 213 Gln RISN_NYX:c.638T>A phenoCommon CSNB1 RISN_NYX:c.638T>A protEffect p.Leu213Gln RISN_NYX:c.647A>T commonName Asn 216 Ser RISN_NYX:c.647A>T phenoCommon CSNB1 RISN_NYX:c.647A>T protEffect p.Asn216Ser RISN_NYX:c.695T>C commonName Leu 232 Pro RISN_NYX:c.695T>C phenoCommon CSNB1 RISN_NYX:c.695T>C protEffect p.Leu232Pro RISN_NYX:c.727_738del commonName 243del12bp RISN_NYX:c.727_738del phenoCommon CSNB1 RISN_NYX:c.792C>G commonName Asn 264 Lys RISN_NYX:c.792C>G phenoCommon CSNB1 RISN_NYX:c.792C>G protEffect p.Asn264Lys RISN_NYX:c.854T>C commonName Leu 285 Pro RISN_NYX:c.854T>C phenoCommon CSNB1 RISN_NYX:c.854T>C protEffect p.Leu285Pro RISN_NYX:c.893T>C commonName Phe 298 Ser RISN_NYX:c.893T>C phenoCommon CSNB1 RISN_NYX:c.893T>C protEffect p.Phe298Ser RISN_NYX:c.935A>G commonName Asn 321 Ser RISN_NYX:c.935A>G phenoCommon CSNB1 RISN_NYX:c.935A>G protEffect p.Asn321Ser RISN_NYX:c.1040T>C commonName Leu 347 Pro RISN_NYX:c.1040T>C phenoCommon CSNB1 RISN_NYX:c.1040T>C protEffect p.Leu347Pro RISN_NYX:c.1049G>A commonName Trp 350 ter RISN_NYX:c.1049G>A phenoCommon CSNB1 RISN_NYX:c.1049G>A protEffect p.Trp350X RISN_NYX:c.1109G>T commonName Gly 370 Val RISN_NYX:c.1109G>T phenoCommon CSNB1 RISN_NYX:c.1109G>T protEffect p.Gly370Val RISN_BBS4:c.157-2A>G commonName IVS3-2A-G RISN_BBS4:c.157-2A>G phenoCommon BBS4 RISN_BBS4:p.Asn165His commonName Asn 165 His RISN_BBS4:p.Asn165His phenoCommon BBS4 RISN_BBS4:p.Asn165His protEffect p.Asn165His RISN_BBS4:p.Ser457Ile commonName Ser 457 Ile RISN_BBS4:p.Ser457Ile phenoCommon BBS4 RISN_BBS4:p.Ser457Ile protEffect p.Ser457Ile RISN_BBS4:c.52_195del commonName 53del144bp RISN_BBS4:c.52_195del phenoCommon BBS4 RISN_BBS4:c.220+1G>C commonName IVS4+1G-C RISN_BBS4:c.220+1G>C phenoCommon BBS4 RISN_BBS4:c.460-2A>C commonName IVS7-2A-C RISN_BBS4:c.460-2A>C phenoCommon BBS4 RISN_BBS4:c.584_585insTG commonName 585insTG RISN_BBS4:c.584_585insTG phenoCommon BBS4 RISN_BBS4:c.884G>C commonName Arg 295 Pro RISN_BBS4:c.884G>C phenoCommon BBS4 RISN_BBS4:c.884G>C protEffect p.Arg295Pro RISN_BBS4:c.24+42G>A commonName IVS1+42g/a RISN_BBS4:c.77-6A>G commonName IVS2-6a/g RISN_BBS4:c.220+91G>A commonName IVS4+91g/a RISN_BBS4:c.332+27_332+28insA commonName IVS5+28insA RISN_BBS4:c.405+17C>T commonName IVS6+17c/t RISN_BBS4:c.1106+20C>T commonName IVS13+20c/t RISN_BBS4:c.1450+18C>T commonName IVS15+18c/t RISN_BBS4:c.1451-45C>T commonName IVS15-45c/t RISN_BBS4:c.-17C>A commonName -17C/A RISN_BBS4:c.1061T>C commonName 1061C/T RISN_BBS4:c.1560*1G>C commonName 1561G/C RISN_VMD2:c.16A>C commonName Thr 6 Pro RISN_VMD2:c.16A>C phenoCommon VMD2 RISN_VMD2:c.16A>C protEffect p.Thr6Pro RISN_VMD2:c.17C>G commonName Thr 6 Arg RISN_VMD2:c.17C>G phenoCommon VMD2 RISN_VMD2:c.17C>G protEffect p.Thr6Arg RISN_VMD2:c.25G>A commonName Val 9 Met RISN_VMD2:c.25G>A phenoCommon VMD2 RISN_VMD2:c.25G>A protEffect p.Val9Met RISN_VMD2:c.26T>C commonName Val 9 Ala RISN_VMD2:c.26T>C phenoCommon VMD2 RISN_VMD2:c.26T>C protEffect p.Val9Ala RISN_VMD2:c.28G>A commonName Ala 10 Thr RISN_VMD2:c.28G>A phenoCommon VMD2 RISN_VMD2:c.28G>A protEffect p.Ala10Thr RISN_VMD2:c.29C>T commonName Ala 10 Val RISN_VMD2:c.29C>T phenoCommon VMD2 RISN_VMD2:c.29C>T protEffect p.Ala10Val RISN_VMD2:c.32A>T commonName Asn 11 Ile RISN_VMD2:c.32A>T phenoCommon VMD2 RISN_VMD2:c.32A>T protEffect p.Asn11Ile RISN_VMD2:c.38G>A commonName Arg 13 His RISN_VMD2:c.38G>A phenoCommon VMD2 RISN_VMD2:c.38G>A protEffect p.Arg13His RISN_VMD2:c.47C>T commonName Ser 16 Phe RISN_VMD2:c.47C>T phenoCommon VMD2 RISN_VMD2:c.47C>T protEffect p.Ser16Phe RISN_VMD2:c.50T>G commonName Phe 17 Cys RISN_VMD2:c.50T>G phenoCommon VMD2 RISN_VMD2:c.50T>G protEffect p.Phe17Cys RISN_VMD2:c.61C>G commonName Leu 21 Val RISN_VMD2:c.61C>G phenoCommon VMD2 RISN_VMD2:c.61C>G protEffect p.Leu21Val RISN_VMD2:c.72G>T commonName Trp 24 Cys RISN_VMD2:c.72G>T phenoCommon VMD2 RISN_VMD2:c.72G>T protEffect p.Trp24Cys RISN_VMD2:c.73C>T commonName Arg 25 Trp RISN_VMD2:c.73C>T phenoCommon VMD2 RISN_VMD2:c.73C>T protEffect p.Arg25Trp RISN_VMD2:c.74G>A commonName Arg 25 Gln RISN_VMD2:c.74G>A phenoCommon VMD2 RISN_VMD2:c.74G>A protEffect p.Arg25Gln RISN_VMD2:c.81C>G commonName Ser 27 Arg RISN_VMD2:c.81C>G phenoCommon VMD2 RISN_VMD2:c.81C>G protEffect p.Ser27Arg RISN_VMD2:c.85T>C commonName Tyr 29 His RISN_VMD2:c.85T>C phenoCommon VMD2 RISN_VMD2:c.85T>C protEffect p.Tyr29His RISN_VMD2:c.89A>G commonName Lys 30 Arg RISN_VMD2:c.89A>G phenoCommon VMD2 RISN_VMD2:c.89A>G protEffect p.Lys30Arg RISN_VMD2:c.122T>C commonName Leu 41 Pro RISN_VMD2:c.122T>C phenoCommon VMD2 RISN_VMD2:c.122T>C protEffect p.Leu41Pro RISN_VMD2:c.176A>T commonName Gln 58 Leu RISN_VMD2:c.176A>T phenoCommon VMD2 RISN_VMD2:c.176A>T protEffect p.Gln58Leu RISN_VMD2:c.217A>C commonName Ile 73 Val RISN_VMD2:c.217A>C phenoCommon VMD2 RISN_VMD2:c.217A>C protEffect p.Ile73Val RISN_VMD2:c.240C>A commonName Phe 80 Leu RISN_VMD2:c.240C>A phenoCommon VMD2 RISN_VMD2:c.240C>A protEffect p.Phe80Leu RISN_VMD2:c.243G>C commonName Leu 82 Val RISN_VMD2:c.243G>C phenoCommon VMD2 RISN_VMD2:c.243G>C protEffect p.Leu82Val RISN_VMD2:c.253T>C commonName Tyr 85 His RISN_VMD2:c.253T>C phenoCommon VMD2 RISN_VMD2:c.253T>C protEffect p.Tyr85His RISN_VMD2:c.272C>T commonName Thr 91 Ile RISN_VMD2:c.272C>T phenoCommon VMD2 RISN_VMD2:c.272C>T protEffect p.Thr91Ile RISN_VMD2:c.274C>T commonName Arg 92 Cys RISN_VMD2:c.274C>T phenoCommon VMD2 RISN_VMD2:c.274C>T protEffect p.Arg92Cys RISN_VMD2:c.274C>A commonName Arg 92 Ser RISN_VMD2:c.274C>A phenoCommon VMD2 RISN_VMD2:c.274C>A protEffect p.Arg92Ser RISN_VMD2:c.275G>A commonName Arg 92 His RISN_VMD2:c.275G>A phenoCommon VMD2 RISN_VMD2:c.275G>A protEffect p.Arg92His RISN_VMD2:c.279G>C commonName Trp 93 Cys RISN_VMD2:c.279G>C phenoCommon VMD2 RISN_VMD2:c.279G>C protEffect p.Trp93Cys RISN_VMD2:c.288G>C commonName Gln 96 His RISN_VMD2:c.288G>C phenoCommon VMD2 RISN_VMD2:c.288G>C protEffect p.Gln96His RISN_VMD2:c.297C>A commonName Asn 99 Lys RISN_VMD2:c.297C>A phenoCommon VMD2 RISN_VMD2:c.297C>A protEffect p.Asn99Lys RISN_VMD2:c.299T>G commonName Leu 100 Arg RISN_VMD2:c.299T>G phenoCommon VMD2 RISN_VMD2:c.299T>G protEffect p.Leu100Arg RISN_VMD2:c.301C>A commonName Pro 101 Thr RISN_VMD2:c.301C>A phenoCommon VMD2 RISN_VMD2:c.301C>A protEffect p.Pro101Thr RISN_VMD2:c.304T>C commonName Trp 102 Arg RISN_VMD2:c.304T>C phenoCommon VMD2 RISN_VMD2:c.304T>C protEffect p.Trp102Arg RISN_VMD2:c.310G>C commonName Asp 104 His RISN_VMD2:c.310G>C phenoCommon VMD2 RISN_VMD2:c.310G>C protEffect p.Asp104His RISN_VMD2:c.312C>A commonName Asp 104 Glu RISN_VMD2:c.312C>A phenoCommon VMD2 RISN_VMD2:c.312C>A protEffect p.Asp104Glu RISN_VMD2:c.399C>G commonName Asn 133 Lys RISN_VMD2:c.399C>G phenoCommon VMD2 RISN_VMD2:c.399C>G protEffect p.Asn133Lys RISN_VMD2:c.403G>A commonName Gly 135 Ser RISN_VMD2:c.403G>A phenoCommon VMD2 RISN_VMD2:c.403G>A protEffect p.Gly135Ser RISN_VMD2:c.419T>G commonName Leu 140 Arg RISN_VMD2:c.419T>G phenoCommon VMD2 RISN_VMD2:c.419T>G protEffect p.Leu140Arg RISN_VMD2:c.421C>A commonName Arg 141 Ser RISN_VMD2:c.421C>A phenoCommon VMD2 RISN_VMD2:c.421C>A protEffect p.Arg141Ser RISN_VMD2:c.422G>A commonName Arg 141 His RISN_VMD2:c.422G>A phenoCommon VMD2 RISN_VMD2:c.422G>A protEffect p.Arg141His RISN_VMD2:c.584C>T commonName Ala 195 Val RISN_VMD2:c.584C>T phenoCommon VMD2 RISN_VMD2:c.584C>T protEffect p.Ala195Val RISN_VMD2:c.602T>C commonName Ile 201 Thr RISN_VMD2:c.602T>C phenoCommon VMD2 RISN_VMD2:c.602T>C protEffect p.Ile201Thr RISN_VMD2:c.619C>A commonName Leu 207 Ile RISN_VMD2:c.619C>A phenoCommon VMD2 RISN_VMD2:c.619C>A protEffect p.Leu207Ile RISN_VMD2:c.626G>A commonName Ser 209 Asn RISN_VMD2:c.626G>A phenoCommon VMD2 RISN_VMD2:c.626G>A protEffect p.Ser209Asn RISN_VMD2:c.636+1G>C commonName IVS5+1g-c RISN_VMD2:c.636+1G>C phenoCommon VMD2 RISN_VMD2:c.652C>A commonName Arg 218 Ser RISN_VMD2:c.652C>A phenoCommon VMD2 RISN_VMD2:c.652C>A protEffect p.Arg218Ser RISN_VMD2:c.652C>T commonName Arg 218 Cys RISN_VMD2:c.652C>T phenoCommon VMD2 RISN_VMD2:c.652C>T protEffect p.Arg218Cys RISN_VMD2:c.653G>A commonName Arg 218 His RISN_VMD2:c.653G>A phenoCommon VMD2 RISN_VMD2:c.653G>A protEffect p.Arg218His RISN_VMD2:c.663T>G commonName Cys 221 Trp RISN_VMD2:c.663T>G phenoCommon VMD2 RISN_VMD2:c.663T>G protEffect p.Cys221Trp RISN_VMD2:c.665G>T commonName Gly 222 Val RISN_VMD2:c.665G>T phenoCommon VMD2 RISN_VMD2:c.665G>T protEffect p.Gly222Val RISN_VMD2:c.670C>A commonName Leu 224 Met RISN_VMD2:c.670C>A phenoCommon VMD2 RISN_VMD2:c.670C>A protEffect p.Leu224Met RISN_VMD2:c.671T>C commonName Leu 224 Pro RISN_VMD2:c.671T>C phenoCommon VMD2 RISN_VMD2:c.671T>C protEffect p.Leu224Pro RISN_VMD2:c.679T>A commonName Tyr 227 Asn RISN_VMD2:c.679T>A phenoCommon VMD2 RISN_VMD2:c.679T>A protEffect p.Tyr227Asn RISN_VMD2:c.680A>G commonName Tyr 227 Cys RISN_VMD2:c.680A>G phenoCommon VMD2 RISN_VMD2:c.680A>G protEffect p.Tyr227Cys RISN_VMD2:c.693T>G commonName Ser 231 Arg RISN_VMD2:c.693T>G phenoCommon VMD2 RISN_VMD2:c.693T>G protEffect p.Ser231Arg RISN_VMD2:c.703G>C commonName Val 235 Leu RISN_VMD2:c.703G>C phenoCommon VMD2 RISN_VMD2:c.703G>C protEffect p.Val235Leu RISN_VMD2:c.703G>A commonName Val 235 Met RISN_VMD2:c.703G>A phenoCommon VMD2 RISN_VMD2:c.703G>A protEffect p.Val235Met RISN_VMD2:c.710C>G commonName Thr 237 Arg RISN_VMD2:c.710C>G phenoCommon VMD2 RISN_VMD2:c.710C>G protEffect p.Thr237Arg RISN_VMD2:c.722C>A commonName Thr 241 Asn RISN_VMD2:c.722C>A phenoCommon VMD2 RISN_VMD2:c.722C>A protEffect p.Thr241Asn RISN_VMD2:c.727G>A commonName Ala 243 Thr RISN_VMD2:c.727G>A phenoCommon VMD2 RISN_VMD2:c.727G>A protEffect p.Ala243Thr RISN_VMD2:c.728C>T commonName Ala 243 Val RISN_VMD2:c.728C>T phenoCommon VMD2 RISN_VMD2:c.728C>T protEffect p.Ala243Val RISN_VMD2:c.828C>G commonName Phe 276 Leu RISN_VMD2:c.828C>G phenoCommon VMD2 RISN_VMD2:c.828C>G protEffect p.Phe276Leu RISN_VMD2:c.841_843delTTC commonName 929delTTC RISN_VMD2:c.841_843delTTC phenoCommon VMD2 RISN_VMD2:c.877C>A commonName Gln 293 Lys RISN_VMD2:c.877C>A phenoCommon VMD2 RISN_VMD2:c.877C>A protEffect p.Gln293Lys RISN_VMD2:c.880C>G commonName Leu 294 Val RISN_VMD2:c.880C>G phenoCommon VMD2 RISN_VMD2:c.880C>G protEffect p.Leu294Val RISN_VMD2:c.881_883delTCA commonName 969delTCA RISN_VMD2:c.881_883delTCA phenoCommon VMD2 RISN_VMD2:c.884T>C commonName Ile 295 Thr RISN_VMD2:c.884T>C phenoCommon VMD2 RISN_VMD2:c.884T>C protEffect p.Ile295Thr RISN_VMD2:c.886A>C commonName Asn 296 His RISN_VMD2:c.886A>C phenoCommon VMD2 RISN_VMD2:c.886A>C protEffect p.Asn296His RISN_VMD2:c.887A>G commonName Asn 296 Ser RISN_VMD2:c.887A>G phenoCommon VMD2 RISN_VMD2:c.887A>G protEffect p.Asn296Ser RISN_VMD2:c.889C>G commonName Pro 297 Ala RISN_VMD2:c.889C>G phenoCommon VMD2 RISN_VMD2:c.889C>G protEffect p.Pro297Ala RISN_VMD2:c.891C>T commonName Pro 297 Ser RISN_VMD2:c.891C>T phenoCommon VMD2 RISN_VMD2:c.891C>T protEffect p.Pro297Ser RISN_VMD2:c.893T>C commonName Phe 298 Ser RISN_VMD2:c.893T>C phenoCommon VMD2 RISN_VMD2:c.893T>C protEffect p.Phe298Ser RISN_VMD2:c.896G>A commonName Gly 299 Glu RISN_VMD2:c.896G>A phenoCommon VMD2 RISN_VMD2:c.896G>A protEffect p.Gly299Glu RISN_VMD2:c.898G>A commonName Glu 300 Lys RISN_VMD2:c.898G>A phenoCommon VMD2 RISN_VMD2:c.898G>A protEffect p.Glu300Lys RISN_VMD2:c.900G>C commonName Glu 300 Asp RISN_VMD2:c.900G>C phenoCommon VMD2 RISN_VMD2:c.900G>C protEffect p.Glu300Asp RISN_VMD2:c.901G>A commonName Asp 301 Asn RISN_VMD2:c.901G>A phenoCommon VMD2 RISN_VMD2:c.901G>A protEffect p.Asp301Asn RISN_VMD2:c.901_903delGAT commonName 989delGAT RISN_VMD2:c.901_903delGAT phenoCommon VMD2 RISN_VMD2:c.903T>G commonName Asp 301 Glu RISN_VMD2:c.903T>G phenoCommon VMD2 RISN_VMD2:c.903T>G protEffect p.Asp301Glu RISN_VMD2:c.904G>C commonName Asp 302 His RISN_VMD2:c.904G>C phenoCommon VMD2 RISN_VMD2:c.904G>C protEffect p.Asp302His RISN_VMD2:c.905A>T commonName Asp 302 Val RISN_VMD2:c.905A>T phenoCommon VMD2 RISN_VMD2:c.905A>T protEffect p.Asp302Val RISN_VMD2:c.905A>G commonName Asp 302 Gly RISN_VMD2:c.905A>G phenoCommon VMD2 RISN_VMD2:c.905A>G protEffect p.Asp302Gly RISN_VMD2:c.909T>A commonName Asp 303 Glu RISN_VMD2:c.909T>A phenoCommon VMD2 RISN_VMD2:c.909T>A protEffect p.Asp303Glu RISN_VMD2:c.914T>C commonName Phe 305 Ser RISN_VMD2:c.914T>C phenoCommon VMD2 RISN_VMD2:c.914T>C protEffect p.Phe305Ser RISN_VMD2:c.917A>G commonName Glu 306 Gly RISN_VMD2:c.917A>G phenoCommon VMD2 RISN_VMD2:c.917A>G protEffect p.Glu306Gly RISN_VMD2:c.918G>C commonName Glu 306 Asp RISN_VMD2:c.918G>C phenoCommon VMD2 RISN_VMD2:c.918G>C protEffect p.Glu306Asp RISN_VMD2:c.919A>G commonName Thr 307 Ala RISN_VMD2:c.919A>G phenoCommon VMD2 RISN_VMD2:c.919A>G protEffect p.Thr307Ala RISN_VMD2:c.920C>T commonName Thr 307 Ile RISN_VMD2:c.920C>T phenoCommon VMD2 RISN_VMD2:c.920C>T protEffect p.Thr307Ile RISN_VMD2:c.923A>G commonName Asn 308 His RISN_VMD2:c.923A>G phenoCommon VMD2 RISN_VMD2:c.923A>G protEffect p.Asn308His RISN_VMD2:c.929T>C commonName Ile 310 Thr RISN_VMD2:c.929T>C phenoCommon VMD2 RISN_VMD2:c.929T>C protEffect p.Ile310Thr RISN_VMD2:c.1468_1469delCA commonName 1556delCA RISN_VMD2:c.1468_1469delCA phenoCommon VMD2 RISN_VMD2:c.313C>T commonName Arg 105 Cys RISN_VMD2:c.313C>T phenoCommon AMD RISN_VMD2:c.313C>T protEffect p.Arg105Cys RISN_VMD2:c.355G>C commonName Glu 119 Gln RISN_VMD2:c.355G>C phenoCommon AMD RISN_VMD2:c.355G>C protEffect p.Glu119Gln RISN_VMD2:c.445A>T commonName Lys 149 ter RISN_VMD2:c.445A>T phenoCommon AMD RISN_VMD2:c.445A>T protEffect p.Lys149X RISN_VMD2:c.647C>T commonName Thr 216 Ile RISN_VMD2:c.647C>T phenoCommon AMD RISN_VMD2:c.647C>T protEffect p.Thr216Ile RISN_VMD2:c.823G>A commonName Val 275 Ile RISN_VMD2:c.823G>A phenoCommon AMD RISN_VMD2:c.823G>A protEffect p.Val275Ile RISN_VMD2:c.1699C>T commonName Leu 567 Phe RISN_VMD2:c.1699C>T phenoCommon AMD RISN_VMD2:c.1699C>T protEffect p.Leu567Phe RISN_VMD2:c.140G>A commonName Arg 47 His RISN_VMD2:c.140G>A phenoCommon AVMD RISN_VMD2:c.140G>A protEffect p.Arg47His RISN_VMD2:c.436_437delinsAA commonName Ala 146 Lys RISN_VMD2:c.436_437delinsAA phenoCommon AVMD RISN_VMD2:c.436_437delinsAA protEffect p.Ala146Lys RISN_VMD2:c.934G>A commonName Asp 312 Asn RISN_VMD2:c.934G>A phenoCommon AVMD RISN_VMD2:c.934G>A protEffect p.Asp312Asn RISN_VMD2:c.933C>T commonName Val 311 Val RISN_VMD2:c.933C>T phenoCommon Polymoprhism RISN_VMD2:c.933C>T protEffect p.Val311Val RISN_VMD2:c.33T>C commonName 33C/T RISN_VMD2:c.87C>T commonName Tyr 29 Tyr RISN_VMD2:c.87C>T protEffect p.Tyr29Tyr RISN_VMD2:c.109T>C commonName Leu 37 Leu RISN_VMD2:c.109T>C protEffect p.Leu37Leu RISN_VMD2:c.165G>A commonName Thr 55 Thr RISN_VMD2:c.165G>A protEffect p.Thr55Thr RISN_VMD2:c.201G>C commonName Leu 67 Leu RISN_VMD2:c.201G>C protEffect p.Leu67Leu RISN_VMD2:c.219C>A commonName Ile 73 Ile RISN_VMD2:c.219C>A protEffect p.Ile73Ile RISN_VMD2:c.222G>A commonName Gln 74 Gln RISN_VMD2:c.222G>A protEffect p.Gln74Gln RISN_VMD2:c.248-12C>T commonName IVS3-12c/t RISN_VMD2:c.248-32C>T commonName IVS3-32c/t RISN_VMD2:c.248-17C>T commonName IVS3-17c/t RISN_VMD2:c.248-26C>T commonName IVS3-26c/t RISN_VMD2:c.482-24C>T commonName IVS4-24c/t RISN_VMD2:c.624G>A commonName Gln 208 Gln RISN_VMD2:c.624G>A protEffect p.Gln208Gln RISN_VMD2:c.637-6C>T commonName IVS5-6c/t RISN_VMD2:c.654T>C commonName Arg 218 Arg RISN_VMD2:c.654T>C protEffect p.Arg218Arg RISN_VMD2:c.696C>A commonName Ile 232 Ile RISN_VMD2:c.696C>A protEffect p.Ile232Ile RISN_VMD2:c.715-27TCC[5] commonName IVS6-27del(TCC)3 RISN_VMD2:c.715-26_715-27insTCC commonName IVS6-27insTCC RISN_VMD2:c.715-27TCC[6] commonName IVS6-27del(TCC)2 RISN_VMD2:c.720G>C commonName Val 240 Val RISN_VMD2:c.720G>C protEffect p.Val240Val RISN_VMD2:c.949-21delT commonName IVS8-21del t RISN_VMD2:c.1023C>T commonName Pro 341 Pro RISN_VMD2:c.1023C>T protEffect p.Pro341Pro RISN_VMD2:c.1026G>A commonName Glu 342 Glu RISN_VMD2:c.1026G>A protEffect p.Glu342Glu RISN_VMD2:c.1410A>G commonName Thr 470 Thr RISN_VMD2:c.1410A>G protEffect p.Thr470Thr RISN_VMD2:c.1557C>T commonName Ser 519 Ser RISN_VMD2:c.1557C>T protEffect p.Ser519Ser RISN_VMD2:c.1574A>C commonName Glu 525 Ala RISN_VMD2:c.1574A>C protEffect p.Glu525Ala RISN_VMD2:c.1608T>C commonName Thr 536 Thr RISN_VMD2:c.1608T>C protEffect p.Thr536Thr RISN_VMD2:c.1669G>A commonName Glu 557 Lys RISN_VMD2:c.1669G>A protEffect p.Glu557Lys RISN_VMD2:c.1681A>G commonName Thr 561 Ala RISN_VMD2:c.1681A>G protEffect p.Thr561Ala RISN_VMD2:c.1740-27T>C commonName IVS10-27t/c RISN_VMD2:c.1846_1847insG commonName 1935ins g RISN_BBS2:c.507+1G>C commonName IVS4+1G-C RISN_BBS2:c.507+1G>C phenoCommon BBS2 RISN_BBS2:p.Tyr24X commonName Tyr 24 ter RISN_BBS2:p.Tyr24X phenoCommon BBS2 RISN_BBS2:p.Tyr24X protEffect p.Tyr24X RISN_BBS2:p.Arg643Pro commonName Arg 643 Pro RISN_BBS2:p.Arg643Pro phenoCommon BBS2 RISN_BBS2:p.Arg643Pro protEffect p.Arg643Pro RISN_BBS2:c.224T>G commonName Val 75 Gly RISN_BBS2:c.224T>G phenoCommon BBS2 RISN_BBS2:c.224T>G protEffect p.Val75Gly RISN_BBS2:c.814C>T commonName Arg 272 ter RISN_BBS2:c.814C>T phenoCommon BBS2 RISN_BBS2:c.814C>T protEffect p.Arg272X RISN_BBS2:c.823C>T commonName Arg 275 ter RISN_BBS2:c.823C>T phenoCommon BBS2 RISN_BBS2:c.823C>T protEffect p.Arg275X RISN_BBS2:c.940delA commonName 940delA RISN_BBS2:c.940delA phenoCommon BBS2 RISN_BBS2:c.1206dupA commonName 1206insA RISN_BBS2:c.1206dupA phenoCommon BBS2 RISN_BBS2:c.1413A>C commonName Val 471 Val RISN_BBS2:c.1413A>C protEffect p.Val471Val RISN_CEP290:c.21G>T commonName Trp 7 Cys RISN_CEP290:c.21G>T phenoCommon JBTS RISN_CEP290:c.21G>T protEffect p.Trp7Cys RISN_CEP290:c.3175dupA commonName 3175insA RISN_CEP290:c.3175dupA phenoCommon JBTS RISN_CEP290:c.3176dupT commonName 3176insT RISN_CEP290:c.3176dupT phenoCommon JBTS RISN_CEP290:c.4656delA commonName 4656delA RISN_CEP290:c.4656delA phenoCommon JBTS RISN_CEP290:c.4732G>T commonName Glu 1578 ter RISN_CEP290:c.4732G>T phenoCommon JBTS RISN_CEP290:c.4732G>T protEffect p.Glu1578X RISN_CEP290:c.4771C>T commonName Gln 1597 ter RISN_CEP290:c.4771C>T phenoCommon JBTS RISN_CEP290:c.4771C>T protEffect p.Gln1597X RISN_CEP290:c.5424T>C commonName Gln 1942 ter RISN_CEP290:c.5424T>C phenoCommon JBTS RISN_CEP290:c.5424T>C protEffect p.Gln1942X RISN_CEP290:c.5515_5518delGAGA commonName 5515delGAGA RISN_CEP290:c.5515_5518delGAGA phenoCommon JBTS RISN_CEP290:c.5649dupA commonName 5649insA RISN_CEP290:c.5649dupA phenoCommon JBTS RISN_CEP290:c.5668G>T commonName Gly 1890 ter RISN_CEP290:c.5668G>T phenoCommon JBTS RISN_CEP290:c.5668G>T protEffect p.Gly1890X RISN_CEP290:c.6331C>T commonName Gln 2111 ter RISN_CEP290:c.6331C>T phenoCommon JBTS RISN_CEP290:c.6331C>T protEffect p.Gln2111X RISN_CEP290:c.7341dupA commonName 7341insA RISN_CEP290:c.7341dupA phenoCommon JBTS RISN_CEP290:c.181-1G>T commonName IVS3-1g>t RISN_CEP290:c.181-1G>T phenoCommon LCA10 RISN_CEP290:c.265dupA commonName 265insA RISN_CEP290:c.265dupA phenoCommon LCA10 RISN_CEP290:c.679_680delGA commonName 679delGA RISN_CEP290:c.679_680delGA phenoCommon LCA10 RISN_CEP290:c.1550delT commonName 1550delT RISN_CEP290:c.1550delT phenoCommon LCA10 RISN_CEP290:c.2118_2122dupTCAGC commonName 2118dupTCAGC RISN_CEP290:c.2118_2122dupTCAGC phenoCommon LCA10 RISN_CEP290:c.2991+1655A>G commonName IVS26+1655a>g RISN_CEP290:c.2991+1655A>G phenoCommon LCA10 RISN_CEP290:c.3814C>T commonName Arg 1272 ter RISN_CEP290:c.3814C>T phenoCommon LCA10 RISN_CEP290:c.3814C>T protEffect p.Arg1272X RISN_CEP290:c.4115_4116delTA commonName 4115delTA RISN_CEP290:c.4115_4116delTA phenoCommon LCA10 RISN_CEP290:c.4966G>T commonName Glu 1656 ter RISN_CEP290:c.4966G>T phenoCommon LCA10 RISN_CEP290:c.4966G>T protEffect p.Glu1656X RISN_CEP290:c.5813_5817delCTTTA commonName 5813delCTTTA RISN_CEP290:c.5813_5817delCTTTA phenoCommon LCA10 RISN_CEP290:c.2055T>C commonName Ala 685 Ala RISN_CEP290:c.2055T>C protEffect p.Ala685Ala RISN_CEP290:c.2218-4_2222del commonName IVS21-4del9bp RISN_CEP290:c.2218-4_2222del phenoCommon SLSN RISN_RDH5:c.103G>A commonName Gly 35 Ser RISN_RDH5:c.103G>A phenoCommon Fundus albipunctatus RISN_RDH5:c.103G>A protEffect p.Gly35Ser RISN_RDH5:c.128delT commonName 128delT RISN_RDH5:c.128delT phenoCommon Fundus albipunctatus RISN_RDH5:c.215_216insGTGG commonName 216insGTGG RISN_RDH5:c.215_216insGTGG phenoCommon Fundus albipunctatus RISN_RDH5:c.218C>T commonName Ser 73 Phe RISN_RDH5:c.218C>T phenoCommon Fundus albipunctatus RISN_RDH5:c.218C>T protEffect p.Ser73Phe RISN_RDH5:c.319G>C commonName Gly 107 Arg RISN_RDH5:c.319G>C phenoCommon Fundus albipunctatus RISN_RDH5:c.319G>C protEffect p.Gly107Arg RISN_RDH5:c.394G>A commonName Val 132 Met RISN_RDH5:c.394G>A phenoCommon Fundus albipunctatus RISN_RDH5:c.394G>A protEffect p.Val132Met RISN_RDH5:c.468C>T commonName Arg 157 Trp RISN_RDH5:c.468C>T phenoCommon Fundus albipunctatus RISN_RDH5:c.468C>T protEffect p.Arg157Trp RISN_RDH5:c.501C>G commonName Cys 267 Trp RISN_RDH5:c.501C>G phenoCommon Fundus albipunctatus RISN_RDH5:c.501C>G protEffect p.Cys267Trp RISN_RDH5:c.530T>G commonName Val 177 Gly RISN_RDH5:c.530T>G phenoCommon Fundus albipunctatus RISN_RDH5:c.530T>G protEffect p.Val177Gly RISN_RDH5:c.712G>T commonName Gly 238 Trp RISN_RDH5:c.712G>T phenoCommon Fundus albipunctatus RISN_RDH5:c.712G>T protEffect p.Gly238Trp RISN_RDH5:c.712dupG commonName 712insG RISN_RDH5:c.712dupG phenoCommon Fundus albipunctatus RISN_RDH5:c.839G>A commonName Arg 280 His RISN_RDH5:c.839G>A phenoCommon Fundus albipunctatus RISN_RDH5:c.839G>A protEffect p.Arg280His RISN_RDH5:c.841T>C commonName Tyr 281 His RISN_RDH5:c.841T>C phenoCommon Fundus albipunctatus RISN_RDH5:c.841T>C protEffect p.Tyr281His RISN_RDH5:c.880G>C commonName Ala 294 Pro RISN_RDH5:c.880G>C phenoCommon Fundus albipunctatus RISN_RDH5:c.880G>C protEffect p.Ala294Pro RISN_RDH5:c.928_928delinsGAAG commonName 928delCinsGAAG RISN_RDH5:c.928_928delinsGAAG phenoCommon Fundus albipunctatus RISN_RDH5:c.97A>G commonName Ile 33 Val RISN_RDH5:c.97A>G protEffect p.Ile33Val RISN_RDH5:c.423C>T commonName Ser 141 Ser RISN_RDH5:c.423C>T protEffect p.Ser141Ser RISN_RDH5:p.Val200Val commonName Val 200 Val RISN_RDH5:p.Val200Val protEffect p.Val200Val RISN_GRM6:c.19G>A commonName Ala 7 Thr RISN_GRM6:c.19G>A protEffect p.Ala7Thr RISN_GRM6:c.57_75dup commonName 57_75dup19bp RISN_GRM6:c.57_75dup phenoCommon CSNB RISN_GRM6:c.83G>A commonName Arg 28 His RISN_GRM6:c.83G>A protEffect p.Arg28His RISN_GRM6:c.137C>T commonName Pro 46 Leu RISN_GRM6:c.137C>T phenoCommon CSNB RISN_GRM6:c.137C>T protEffect p.Pro46Leu RISN_GRM6:c.172G>C commonName Gly 58 Arg RISN_GRM6:c.172G>C phenoCommon CSNB RISN_GRM6:c.172G>C protEffect p.Gly58Arg RISN_GRM6:c.176A>C commonName Pro 59 Gln RISN_GRM6:c.176A>C protEffect p.Pro59Gln RISN_GRM6:c.261C>T commonName Pro 87 Pro RISN_GRM6:c.261C>T protEffect p.Pro87Pro RISN_GRM6:c.336C>T commonName Phe 112 Phe RISN_GRM6:c.336C>T protEffect p.Phe112Phe RISN_GRM6:c.352C>A commonName Arg 118 Ser RISN_GRM6:c.352C>A protEffect p.Arg118Ser RISN_GRM6:c.448G>A commonName Gly 150 Ser RISN_GRM6:c.448G>A phenoCommon CSNB RISN_GRM6:c.448G>A protEffect p.Gly150Ser RISN_GRM6:c.504+66A>C commonName IVS1+66a>c RISN_GRM6:c.664G>A commonName Glu 222 Lys RISN_GRM6:c.664G>A protEffect p.Glu222Lys RISN_GRM6:c.686G>A commonName Gly 229 Glu RISN_GRM6:c.686G>A protEffect p.Gly229Glu RISN_GRM6:c.721+83G>T commonName IVS2+83g>t RISN_GRM6:c.727G>T commonName Val 243 Phe RISN_GRM6:c.727G>T protEffect p.Val243Phe RISN_GRM6:c.727_728insG commonName 728insG RISN_GRM6:c.727_728insG phenoCommon CSNB RISN_GRM6:c.733A>G commonName Ile 245 Val RISN_GRM6:c.733A>G protEffect p.Ile245Val RISN_GRM6:c.1131C>T commonName Asp 377 Asp RISN_GRM6:c.1131C>T protEffect p.Asp377Asp RISN_GRM6:c.1153+52_1153+53ins9 commonName IVS5+53ins9bp RISN_GRM6:c.1227C>T commonName Tyr 409 Tyr RISN_GRM6:c.1227C>T protEffect p.Tyr409Tyr RISN_GRM6:c.1353T>C commonName Asn 451 Asn RISN_GRM6:c.1353T>C protEffect p.Asn451Asn RISN_GRM6:c.1392A>G commonName Gly 464 Gly RISN_GRM6:c.1392A>G protEffect p.Gly464Gly RISN_GRM6:c.1500+23A>G commonName IVS7+23g>a RISN_GRM6:c.1565G>A commonName Cys 522 Tyr RISN_GRM6:c.1565G>A phenoCommon CSNB RISN_GRM6:c.1565G>A protEffect p.Cys522Tyr RISN_GRM6:c.1566C>T commonName Cys 522 Cys RISN_GRM6:c.1566C>T protEffect p.Cys522Cys RISN_GRM6:c.1732C>T commonName Arg 578 Cys RISN_GRM6:c.1732C>T protEffect p.Arg578Cys RISN_GRM6:c.1748C>T commonName Ser 583 Phe RISN_GRM6:c.1748C>T protEffect p.Ser583Phe RISN_GRM6:c.1766C>T commonName Pro 589 Leu RISN_GRM6:c.1766C>T protEffect p.Pro589Leu RISN_GRM6:c.1848C>T commonName Val 616 Val RISN_GRM6:c.1848C>T protEffect p.Val616Val RISN_GRM6:c.1861C>T commonName Arg 621 ter RISN_GRM6:c.1861C>T phenoCommon CSNB RISN_GRM6:c.1861C>T protEffect p.Arg621X RISN_GRM6:c.1875C>T commonName Tyr 625 Tyr RISN_GRM6:c.1875C>T protEffect p.Tyr625Tyr RISN_GRM6:c.1887C>T commonName Thr 629 Thr RISN_GRM6:c.1887C>T protEffect p.Thr629Thr RISN_GRM6:c.1944G>T commonName Ala 648 Ala RISN_GRM6:c.1944G>T protEffect p.Ala648Ala RISN_GRM6:c.1953C>T commonName Ala 651 Ala RISN_GRM6:c.1953C>T protEffect p.Ala651Ala RISN_GRM6:c.1956C>T commonName Ala 652 Ala RISN_GRM6:c.1956C>T protEffect p.Ala652Ala RISN_GRM6:c.1958G>A commonName Arg 653 His RISN_GRM6:c.1958G>A protEffect p.Arg653His RISN_GRM6:c.2092C>G commonName Leu 698 Val RISN_GRM6:c.2092C>G protEffect p.Leu698Val RISN_GRM6:c.2122C>T commonName Gln 708 ter RISN_GRM6:c.2122C>T phenoCommon CSNB RISN_GRM6:c.2122C>T protEffect p.Gln708X RISN_GRM6:c.2134A>G commonName Met 712 Val RISN_GRM6:c.2134A>G protEffect p.Met712Val RISN_GRM6:c.2196G>A commonName Thr 732 Thr RISN_GRM6:c.2196G>A protEffect p.Thr732Thr RISN_GRM6:c.2341G>A commonName Glu 781 Lys RISN_GRM6:c.2341G>A phenoCommon CSNB RISN_GRM6:c.2341G>A protEffect p.Glu781Lys RISN_GRM6:c.2397C>T commonName Phe 799 Phe RISN_GRM6:c.2397C>T protEffect p.Phe799Phe RISN_GRM6:c.2420C>T commonName Ala 807 Val RISN_GRM6:c.2420C>T protEffect p.Ala807Val RISN_GRM6:c.2436+46A>C commonName IVS9+46a>c RISN_GRM6:c.2436+55G>A commonName IVS9+55g>a RISN_GRM6:c.2437-6G>A commonName IVS9-6g>a RISN_GRM6:c.2634*56A>C commonName 2690A>C RISN_RPGR:c.28+5G>A commonName IVS1+5g-a RISN_RPGR:c.28+5G>A phenoCommon RP3 RISN_RPGR:c.28+1G>A commonName IVS1+1g-a RISN_RPGR:c.28+1G>A phenoCommon RP3 RISN_RPGR:c.29-15A>G commonName IVS1-15g/a RISN_RPGR:c.97delA commonName 97delA RISN_RPGR:c.97delA phenoCommon RP3 RISN_RPGR:c.106G>T commonName Val 36 Pro RISN_RPGR:c.106G>T phenoCommon CSNB RISN_RPGR:c.106G>T protEffect p.Val36Pro RISN_RPGR:c.127G>A commonName Gly 43 Arg RISN_RPGR:c.127G>A phenoCommon RP3 RISN_RPGR:c.127G>A protEffect p.Gly43Arg RISN_RPGR:c.128G>A commonName Gly 43 Glu RISN_RPGR:c.128G>A phenoCommon RP3 RISN_RPGR:c.128G>A protEffect p.Gly43Glu RISN_RPGR:c.141T>G commonName Ser 47 Ser RISN_RPGR:c.141T>G protEffect p.Ser47Ser RISN_RPGR:c.154G>T commonName Gly 52 ter RISN_RPGR:c.154G>T phenoCommon RP3 RISN_RPGR:c.154G>T protEffect p.Gly52X RISN_RPGR:c.155-2A>G commonName IVS2-2a-g RISN_RPGR:c.155-2A>G phenoCommon RP3 RISN_RPGR:c.248-2A>G commonName IVS3-2a-g RISN_RPGR:c.248-2A>G phenoCommon RP3 RISN_RPGR:c.179G>T commonName Gly 60 Val RISN_RPGR:c.179G>T phenoCommon RP3 RISN_RPGR:c.179G>T protEffect p.Gly60Val RISN_RPGR:c.237_238delAT commonName 237delAT RISN_RPGR:c.237_238delAT phenoCommon RP3 RISN_RPGR:c.248-6T>A commonName IVS3-6t-a RISN_RPGR:c.248-6T>A phenoCommon RP3 RISN_RPGR:c.294C>A commonName His 98 Gln RISN_RPGR:c.294C>A phenoCommon RP3 RISN_RPGR:c.294C>A protEffect p.His98Gln RISN_RPGR:c.296C>A commonName Thr 99 Asn RISN_RPGR:c.296C>A phenoCommon RP3 RISN_RPGR:c.296C>A protEffect p.Thr99Asn RISN_RPGR:c.295_296insCA commonName 296insCA RISN_RPGR:c.295_296insCA phenoCommon RP3 RISN_RPGR:c.310+1G>C commonName IVS4+1g-c RISN_RPGR:c.310+1G>C phenoCommon RP3 RISN_RPGR:c.310+3A>G commonName IVS4+3a-g RISN_RPGR:c.310+3A>G phenoCommon RP3 RISN_RPGR:c.355delT commonName 355delT RISN_RPGR:c.355delT phenoCommon RP3 RISN_RPGR:c.371delC commonName 371delC RISN_RPGR:c.371delC phenoCommon RP3 RISN_RPGR:c.379A>G commonName Arg 127 Gly RISN_RPGR:c.379A>G phenoCommon RP3 RISN_RPGR:c.379A>G protEffect p.Arg127Gly RISN_RPGR:c.389T>G commonName Phe 130 Cys RISN_RPGR:c.389T>G phenoCommon RP3 RISN_RPGR:c.389T>G protEffect p.Phe130Cys RISN_RPGR:c.415G>T commonName Glu 139 ter RISN_RPGR:c.415G>T phenoCommon RP3 RISN_RPGR:c.415G>T protEffect p.Glu139X RISN_RPGR:c.469+1G>A commonName IVS5+1g-a RISN_RPGR:c.469+1G>A phenoCommon RP3 RISN_RPGR:c.482delT commonName 482delT RISN_RPGR:c.482delT phenoCommon RP3 RISN_RPGR:c.482_483delTT commonName 482delTT RISN_RPGR:c.482_483delTT phenoCommon RP3 RISN_RPGR:c.492G>A commonName Trp 164 ter RISN_RPGR:c.492G>A phenoCommon RP3 RISN_RPGR:c.492G>A protEffect p.Trp164X RISN_RPGR:c.581G>A commonName Trp 194 ter RISN_RPGR:c.581G>A phenoCommon RP3 RISN_RPGR:c.581G>A protEffect p.Trp194X RISN_RPGR:c.605C>A commonName Ser 202 ter RISN_RPGR:c.605C>A phenoCommon RP3 RISN_RPGR:c.605C>A protEffect p.Ser202X RISN_RPGR:c.619+5G>A commonName IVS6+5g-a RISN_RPGR:c.619+5G>A phenoCommon RP3 RISN_RPGR:c.620-41T>C commonName IVS6-41t-c RISN_RPGR:c.644G>T commonName Gly 215 Val RISN_RPGR:c.644G>T phenoCommon RP3 RISN_RPGR:c.644G>T protEffect p.Gly215Val RISN_RPGR:c.703C>T commonName Pro 235 Ser RISN_RPGR:c.703C>T phenoCommon RP3 RISN_RPGR:c.703C>T protEffect p.Pro235Ser RISN_RPGR:c.706C>T commonName Gln 236 ter RISN_RPGR:c.706C>T phenoCommon RP3 RISN_RPGR:c.706C>T protEffect p.Gln236X RISN_RPGR:c.730A>T commonName Lys 244 ter RISN_RPGR:c.730A>T phenoCommon RP3 RISN_RPGR:c.730A>T protEffect p.Lys244X RISN_RPGR:c.732G>A commonName Lys 244 Lys RISN_RPGR:c.732G>A protEffect p.Lys244Lys RISN_RPGR:c.747delC commonName 746delC RISN_RPGR:c.747delC phenoCommon Pathogenic RISN_RPGR:c.748T>C commonName Cys 250 Arg RISN_RPGR:c.748T>C phenoCommon RP3 RISN_RPGR:c.748T>C protEffect p.Cys250Arg RISN_RPGR:c.750_751delTG commonName 750delTG RISN_RPGR:c.750_751delTG phenoCommon RP3 RISN_RPGR:c.(?_779)_(1245_?)del commonName del Exon 8-10 RISN_RPGR:c.(?_779)_(1245_?)del phenoCommon RP3 RISN_RPGR:c.(?_779)_(934_?)del commonName Deletion exon 8 RISN_RPGR:c.(?_779)_(934_?)del phenoCommon RP3 RISN_RPGR:c.779-1G>A commonName IVS7-1g-a RISN_RPGR:c.779-1G>A phenoCommon Possibly pathogenic RISN_RPGR:c.778+5G>A commonName IVS7+5g-a RISN_RPGR:c.778+5G>A phenoCommon RP3 RISN_RPGR:c.823G>A commonName Gly 275 Ser RISN_RPGR:c.823G>A phenoCommon RP3 RISN_RPGR:c.823G>A protEffect p.Gly275Ser RISN_RPGR:c.833_836delCTTT commonName 833delCTTT RISN_RPGR:c.833_836delCTTT phenoCommon Pathogenic RISN_RPGR:c.834delT commonName 834delT RISN_RPGR:c.834delT phenoCommon RP3 RISN_RPGR:c.834_835delTT commonName 834delTT RISN_RPGR:c.834_835delTT phenoCommon Possibly pathogenic RISN_RPGR:c.836_2209del commonName 836del1374bp RISN_RPGR:c.836_2209del phenoCommon RP3 RISN_RPGR:c.865A>G commonName Ile 289 Val RISN_RPGR:c.865A>G phenoCommon RP3 RISN_RPGR:c.865A>G protEffect p.Ile289Val RISN_RPGR:c.869delA commonName 869delA RISN_RPGR:c.869delA phenoCommon RP3 RISN_RPGR:c.886_900del commonName 886del15bp RISN_RPGR:c.886_900del phenoCommon RP3 RISN_RPGR:c.904T>C commonName Cys 302 Arg RISN_RPGR:c.904T>C phenoCommon RP3 RISN_RPGR:c.904T>C protEffect p.Cys302Arg RISN_RPGR:c.905G>A commonName Cys 302 Tyr RISN_RPGR:c.905G>A phenoCommon RP3 RISN_RPGR:c.905G>A protEffect p.Cys302Tyr RISN_RPGR:c.931A>G commonName Asp 312 Asn RISN_RPGR:c.931A>G phenoCommon Possibly pathogenic RISN_RPGR:c.931A>G protEffect p.Asp312Asn RISN_RPGR:c.934+1G>A commonName IVS8+1g-a RISN_RPGR:c.934+1G>A phenoCommon RP3 RISN_RPGR:c.934+1G>C commonName IVS8+1g-c RISN_RPGR:c.934+1G>C phenoCommon RP3 RISN_RPGR:c.958G>A commonName Gly 320 Arg RISN_RPGR:c.958G>A phenoCommon Possibly pathogenic RISN_RPGR:c.958G>A protEffect p.Gly320Arg RISN_RPGR:c.980T>G commonName Leu 327 ter RISN_RPGR:c.980T>G phenoCommon RP3 RISN_RPGR:c.980T>G protEffect p.Leu327X RISN_RPGR:c.994G>T commonName Glu 332 ter RISN_RPGR:c.994G>T phenoCommon RP3 RISN_RPGR:c.994G>T protEffect p.Glu332X RISN_RPGR:c.1033A>G commonName Asn 345 Asp RISN_RPGR:c.1033A>G protEffect p.Asn345Asp RISN_RPGR:c.1088dupT commonName 1088insT RISN_RPGR:c.1088dupT phenoCommon RP3 RISN_RPGR:c.1099delC commonName 1099delC RISN_RPGR:c.1099delC phenoCommon RP3 RISN_RPGR:c.1120G>T commonName Glu 374 ter RISN_RPGR:c.1120G>T phenoCommon RP3 RISN_RPGR:c.1120G>T protEffect p.Glu374X RISN_RPGR:c.1164G>A commonName Ala 388 Ala RISN_RPGR:c.1164G>A protEffect p.Ala388Ala RISN_RPGR:c.1243_1244dupAG commonName 1243insAG RISN_RPGR:c.1243_1244dupAG phenoCommon RP3 RISN_RPGR:c.1245+3A>G commonName IVS10+3a-g RISN_RPGR:c.1245+3A>G phenoCommon RP3 RISN_RPGR:c.1245+16A>G commonName IVS10+16a-g RISN_RPGR:c.1245+16A>G phenoCommon RP3 RISN_RPGR:c.1261_1279del commonName 1261del19bp RISN_RPGR:c.1261_1279del phenoCommon RP3 RISN_RPGR:c.1274G>A commonName Arg 425 Lys RISN_RPGR:c.1274G>A protEffect p.Arg425Lys RISN_RPGR:c.1291A>G commonName Ile 431 Val RISN_RPGR:c.1291A>G protEffect p.Ile431Val RISN_RPGR:c.1307G>A commonName Gly 436 Asp RISN_RPGR:c.1307G>A phenoCommon RP3 RISN_RPGR:c.1307G>A protEffect p.Gly436Asp RISN_RPGR:c.1376_1377delTC commonName 1376delTC RISN_RPGR:c.1376_1377delTC phenoCommon RP3 RISN_RPGR:c.1402_1405delCCAG commonName 1402delCCAG RISN_RPGR:c.1402_1405delCCAG phenoCommon RP3 RISN_RPGR:c.1476delC commonName 1476delC RISN_RPGR:c.1476delC phenoCommon RP3 RISN_RPGR:c.1478T>A commonName Asn 493 Lys RISN_RPGR:c.1478T>A phenoCommon RP3 RISN_RPGR:c.1478T>A protEffect p.Asn493Lys RISN_RPGR:c.1507-101T>A commonName IVS12-101t/aa RISN_RPGR:c.1507-97T>C commonName IVS12-97t/c RISN_RPGR:c.1507-104_1507-101delAAAT commonName IVS12-104delAAAT RISN_RPGR:c.1507-68T>C commonName IVS12-68t/c RISN_RPGR:c.1508_1509delCA commonName 1508delCA RISN_RPGR:c.1508_1509delCA phenoCommon RP3 RISN_RPGR:c.1572+11A>G commonName IVS13+11a/g RISN_RPGR:c.(?_1573)_(3459_?)del commonName del Exon 14 - 15 RISN_RPGR:c.(?_1573)_(3459_?)del phenoCommon RP3 RISN_RPGR:c.1573-2A>G commonName IVS13-2a-g RISN_RPGR:c.1573-2A>G phenoCommon RP3 RISN_RPGR:c.1573-1G>A commonName IVS13-1g-a RISN_RPGR:c.1573-1G>A phenoCommon RP3 RISN_RPGR:c.1573-8A>G commonName IVS13-8a-g RISN_RPGR:c.1573-8A>G phenoCommon RP3 RISN_RPGR:c.1575_1578delACAA commonName 1575del ACAA RISN_RPGR:c.1575_1578delACAA phenoCommon RP3 RISN_RPGR:c.1576_1578delCAA commonName 1576delCAA RISN_RPGR:c.1576_1578delCAA phenoCommon Possibly pathogenic RISN_RPGR:c.1598C>T commonName Thr 533 Met RISN_RPGR:c.1598C>T phenoCommon Possibly pathogenic RISN_RPGR:c.1598C>T protEffect p.Thr533Met RISN_RPGR:c.1697G>A commonName Gly 566 Glu RISN_RPGR:c.1697G>A protEffect p.Gly566Glu RISN_RPGR:c.1747G>T commonName Glu 583 ter RISN_RPGR:c.1747G>T phenoCommon Pathogenic RISN_RPGR:c.1747G>T protEffect p.Glu583X RISN_RPGR:c.1832dupA commonName 18332insA RISN_RPGR:c.1832dupA phenoCommon RP3 RISN_RPGR:c.2008C>T commonName Gln 670 ter RISN_RPGR:c.2008C>T phenoCommon RP3 RISN_RPGR:c.2008C>T protEffect p.Gln670X RISN_RPGR:c.2055A>G commonName Glu 685 Glu RISN_RPGR:c.2055A>G protEffect p.Glu685Glu RISN_RPGR:c.2080A>T commonName Lys 694 ter RISN_RPGR:c.2080A>T phenoCommon Possibly pathogenic RISN_RPGR:c.2080A>T protEffect p.Lys694X RISN_RPGR:c.2106_2109delGAAG commonName 2106delGAAG RISN_RPGR:c.2106_2109delGAAG phenoCommon Pathogenic RISN_RPGR:c.2109_2110ins4 commonName 2110ins4bp RISN_RPGR:c.2109_2110ins4 phenoCommon Possibly pathogenic RISN_RPGR:c.2144_2216dup commonName 2144dup73bp RISN_RPGR:c.2144_2216dup phenoCommon RP3 RISN_RPGR:c.2218G>T commonName Glu 740 ter RISN_RPGR:c.2218G>T phenoCommon Possibly pathogenic RISN_RPGR:c.2218G>T protEffect p.Glu740X RISN_RPGR:c.2223G>A commonName Glu 741 Glu RISN_RPGR:c.2223G>A protEffect p.Glu741Glu RISN_RPGR:c.2226G>A commonName Glu 742 Glu RISN_RPGR:c.2226G>A protEffect p.Glu742Glu RISN_RPGR:c.2239_2240delGA commonName 2239delGA RISN_RPGR:c.2239_2240delGA phenoCommon RP3 RISN_RPGR:c.2245G>T commonName Glu 749 ter RISN_RPGR:c.2245G>T phenoCommon RP3 RISN_RPGR:c.2245G>T protEffect p.Glu749X RISN_RPGR:c.2259A>T commonName Gly 753 Gly RISN_RPGR:c.2259A>T protEffect p.Gly753Gly RISN_RPGR:c.2260G>T commonName Glu 754 ter RISN_RPGR:c.2260G>T phenoCommon Possibly pathogenic RISN_RPGR:c.2260G>T protEffect p.Glu754X RISN_RPGR:c.2269_2270delGA commonName 2269delGA RISN_RPGR:c.2269_2270delGA phenoCommon Possibly pathogenic RISN_RPGR:c.2311delG commonName 2311delG RISN_RPGR:c.2311delG phenoCommon RP3 RISN_RPGR:c.2317_2318ins14 commonName 2318ins14bp RISN_RPGR:c.2317_2318ins14 phenoCommon RP3 RISN_RPGR:c.2320_2321delGA commonName 2320delGA RISN_RPGR:c.2320_2321delGA phenoCommon Pathogenic RISN_RPGR:c.2340A>G commonName Arg 780 Arg RISN_RPGR:c.2340A>G protEffect p.Arg780Arg RISN_RPGR:c.2342C>A commonName Ala 781 Thr RISN_RPGR:c.2342C>A phenoCommon Non pathogenic RISN_RPGR:c.2342C>A protEffect p.Ala781Thr RISN_RPGR:c.2356_2357delAA commonName 2356delAA RISN_RPGR:c.2356_2357delAA phenoCommon Pathogenic RISN_RPGR:c.2357_2375del commonName 2357del19bp RISN_RPGR:c.2357_2375del phenoCommon RP3 RISN_RPGR:c.2400_2401delAA commonName 2400del AA RISN_RPGR:c.2400_2401delAA phenoCommon RP3 RISN_RPGR:c.2403_2406delAGAG commonName 2403delAGAG RISN_RPGR:c.2403_2406delAGAG phenoCommon Pathogenic RISN_RPGR:c.2405_2406delAG commonName 2405delAG RISN_RPGR:c.2405_2406delAG phenoCommon RP3 RISN_RPGR:c.2412_2413delAG commonName 2412delAG RISN_RPGR:c.2412_2413delAG phenoCommon Pathogenic RISN_RPGR:c.2426_2427delAG commonName 2426delAG RISN_RPGR:c.2426_2427delAG phenoCommon RP3 RISN_RPGR:c.2442_2445delAGAG commonName 2442delAGAG RISN_RPGR:c.2442_2445delAGAG phenoCommon RP3 RISN_RPGR:c.2447_2461del commonName 2447del15bp RISN_RPGR:c.2496dupG commonName 2496insG RISN_RPGR:c.2496dupG phenoCommon RP3 RISN_RPGR:c.2522delA commonName 2522delA RISN_RPGR:c.2522delA phenoCommon RP3 RISN_RPGR:c.2541_2561del commonName 2541del21bp RISN_RPGR:c.2557G>T commonName Glu 853 ter RISN_RPGR:c.2557G>T phenoCommon RP3 RISN_RPGR:c.2557G>T protEffect p.Glu853X RISN_RPGR:c.2584_2585delGG commonName 2584delGG RISN_RPGR:c.2584_2585delGG phenoCommon RP3 RISN_RPGR:c.2605_2619del commonName 2605del15bp RISN_RPGR:c.2611_2612dupGG commonName 2611insGG RISN_RPGR:c.2611_2612dupGG phenoCommon RP3 RISN_RPGR:c.2625_2626insA commonName 2626insA RISN_RPGR:c.2625_2626insA phenoCommon RP3 RISN_RPGR:c.2650G>T commonName Glu 884 ter RISN_RPGR:c.2650G>T phenoCommon RP3 RISN_RPGR:c.2650G>T protEffect p.Glu884X RISN_RPGR:c.2667_2669delGGA commonName 2667delGGA RISN_RPGR:c.2728_2729delGG commonName 2728delGG RISN_RPGR:c.2728_2729delGG phenoCommon RP3 RISN_RPGR:c.2761_2762delGG commonName 2761delGG RISN_RPGR:c.2761_2762delGG phenoCommon RP3 RISN_RPGR:c.2820_2840dup commonName 2820dup21bp RISN_RPGR:c.2894delA commonName 2894delA RISN_RPGR:c.2894delA phenoCommon RP3 RISN_RPGR:c.2925_2945dup commonName 2925dup21bp RISN_RPGR:c.2992_2996delGAAGG commonName 2992delGAAGG RISN_RPGR:c.2992_2996delGAAGG phenoCommon RP3 RISN_RPGR:c.3072_3083del commonName 3072del12bp RISN_RPGR:c.3086_3097del commonName 3086del12bp RISN_RPGR:c.3101_3102delAG commonName 3101delAG RISN_RPGR:c.3101_3102delAG phenoCommon COD1 RISN_RPGR:c.3102delA commonName 3102delA RISN_RPGR:c.3102delA phenoCommon Pathogenic RISN_RPGR:c.3105delG commonName 3105delG RISN_RPGR:c.3105delG phenoCommon RP3 RISN_RPGR:c.3231T>C commonName Gly 1077 Gly RISN_RPGR:c.3231T>C protEffect p.Gly1077Gly RISN_RPGR:c.3243T>A commonName Asn 1081 Lys RISN_RPGR:c.3243T>A phenoCommon Possibly pathogenic RISN_RPGR:c.3243T>A protEffect p.Asn1081Lys RISN_RPGR:c.3246A>G commonName Val 1092 Val RISN_RPGR:c.3246A>G protEffect p.Val1092Val RISN_RPGR:c.3322_3323insA commonName 3323insA RISN_RPGR:c.3322_3323insA phenoCommon COD1 RISN_RPGR:c.3408T>C commonName Asn 1136 Asn RISN_RPGR:c.3408T>C protEffect p.Asn1136Asn RISN_BBS1:c.432+1G>A commonName IVS4+1G-A RISN_BBS1:c.432+1G>A phenoCommon BBS1 RISN_BBS1:c.851delA commonName 851delA RISN_BBS1:c.851delA phenoCommon BBS1 RISN_BBS1:c.1169T>G commonName Met 390 Arg RISN_BBS1:c.1169T>G phenoCommon BBS1 RISN_BBS1:c.1169T>G protEffect p.Met390Arg RISN_BBS1:c.1655T>G commonName Glu 549 ter RISN_BBS1:c.1655T>G phenoCommon BBS1 RISN_BBS1:c.1655T>G protEffect p.Glu549X RISN_OA1:c.13C>T commonName Arg 5 Cys RISN_OA1:c.13C>T phenoCommon OA1 RISN_OA1:c.13C>T protEffect p.Arg5Cys RISN_OA1:c.104G>A commonName Gly 35 Asp RISN_OA1:c.104G>A phenoCommon OA1 RISN_OA1:c.104G>A protEffect p.Gly35Asp RISN_OA1:c.116T>G commonName Leu 39 Cys RISN_OA1:c.116T>G phenoCommon OA1 RISN_OA1:c.116T>G protEffect p.Leu39Cys RISN_OA1:c.151_157del commonName 151del7 RISN_OA1:c.151_157del phenoCommon OA1 RISN_OA1:c.165_193del commonName 165del29bp RISN_OA1:c.165_193del phenoCommon OA1 RISN_OA1:c.174_175insC commonName 175insC RISN_OA1:c.174_175insC phenoCommon OA1 RISN_OA1:c.175delT commonName 175delT RISN_OA1:c.175delT phenoCommon OA1 RISN_OA1:c.215_231del commonName 215del17bp RISN_OA1:c.215_231del phenoCommon OA1 RISN_OA1:c.232G>A commonName Asp 78 Asn RISN_OA1:c.232G>A phenoCommon OA1 RISN_OA1:c.232G>A protEffect p.Asp78Asn RISN_OA1:c.233A>T commonName Asp 78 Val RISN_OA1:c.233A>T phenoCommon OA1 RISN_OA1:c.233A>T protEffect p.Asp78Val RISN_OA1:c.250G>C commonName Gly 84 Arg RISN_OA1:c.250G>C phenoCommon OA1 RISN_OA1:c.250G>C protEffect p.Gly84Arg RISN_OA1:c.(?_251)_(360_?)del commonName Deletion Exon 2 RISN_OA1:c.(?_251)_(360_?)del phenoCommon OA1 RISN_OA1:c.(?_251)_(1120_?)del commonName Deletion Exon 2 - 8 RISN_OA1:c.(?_251)_(1120_?)del phenoCommon OA1 RISN_OA1:c.251G>A commonName Gly 84 Asp RISN_OA1:c.251G>A phenoCommon OA1 RISN_OA1:c.251G>A protEffect p.Gly84Asp RISN_OA1:c.251-1G>C commonName IVS1-1g-c RISN_OA1:c.251-1G>C phenoCommon OA1 RISN_OA1:c.310delG commonName 310delG RISN_OA1:c.310delG phenoCommon OA1 RISN_OA1:c.347G>C commonName Cys 116 Ser RISN_OA1:c.347G>C phenoCommon OA1 RISN_OA1:c.347G>C protEffect p.Cys116Ser RISN_OA1:c.346T>C commonName Cys 116 Arg RISN_OA1:c.346T>C phenoCommon OA1 RISN_OA1:c.346T>C protEffect p.Cys116Arg RISN_OA1:c.353G>A commonName Gly 118 Glu RISN_OA1:c.353G>A phenoCommon OA1 RISN_OA1:c.353G>A protEffect p.Gly118Glu RISN_OA1:c.360G>A commonName Ala 120 Ala RISN_OA1:c.360G>A phenoCommon OA1 RISN_OA1:c.360G>A protEffect p.Ala120Ala RISN_OA1:c.360+5G>C commonName IVS2+5g-c RISN_OA1:c.360+5G>C phenoCommon OA1 RISN_OA1:c.360+13C>G commonName IVS2+13c/g RISN_OA1:c.(?_361)_(455_?)del commonName Deletion Exon 3 RISN_OA1:c.(?_361)_(455_?)del phenoCommon OA1 RISN_OA1:c.371A>G commonName Gln 124 Arg RISN_OA1:c.371A>G phenoCommon OA1 RISN_OA1:c.371A>G protEffect p.Gln124Arg RISN_OA1:c.397T>A commonName Trp 133 Arg RISN_OA1:c.397T>A phenoCommon OA1 RISN_OA1:c.397T>A protEffect p.Trp133Arg RISN_OA1:c.397T>C commonName Trp 133 Arg RISN_OA1:c.397T>C phenoCommon OA1 RISN_OA1:c.397T>C protEffect p.Trp133Arg RISN_OA1:c.402delG commonName 402delG RISN_OA1:c.402delG phenoCommon OA1 RISN_OA1:c.413C>T commonName Ala 138 Val RISN_OA1:c.413C>T phenoCommon OA1 RISN_OA1:c.413C>T protEffect p.Ala138Val RISN_OA1:c.444_445insAGATCGG commonName 445insAGATCGG RISN_OA1:c.444_445insAGATCGG phenoCommon OA1 RISN_OA1:c.455G>A commonName Ser 152 Asn RISN_OA1:c.455G>A phenoCommon OA1 RISN_OA1:c.455G>A protEffect p.Ser152Asn RISN_OA1:c.455+1G>C commonName IVS3+1g-c RISN_OA1:c.455+1G>C phenoCommon OA1 RISN_OA1:c.(?_456)_(658_?)del commonName Deletion Exon 4 - 5 RISN_OA1:c.(?_456)_(658_?)del phenoCommon OA1 RISN_OA1:c.(?_456)_(548_?)del commonName Deletion Exon 4 RISN_OA1:c.(?_456)_(548_?)del phenoCommon OA1 RISN_OA1:c.518C>A commonName Ala 173 Asp RISN_OA1:c.518C>A phenoCommon OA1 RISN_OA1:c.518C>A protEffect p.Ala173Asp RISN_OA1:c.676delG commonName 676delG RISN_OA1:c.676delG phenoCommon OA1 RISN_OA1:c.686G>T commonName Gly 229 Val RISN_OA1:c.686G>T phenoCommon OA1 RISN_OA1:c.686G>T protEffect p.Gly229Val RISN_OA1:c.695C>A commonName Thr 232 Lys RISN_OA1:c.695C>A phenoCommon OA1 RISN_OA1:c.695C>A protEffect p.Thr232Lys RISN_OA1:c.697G>A commonName Glu 233 Lys RISN_OA1:c.697G>A phenoCommon OA1 RISN_OA1:c.697G>A protEffect p.Glu233Lys RISN_OA1:c.705G>A commonName Glu 235 Lys RISN_OA1:c.705G>A phenoCommon OA1 RISN_OA1:c.705G>A protEffect p.Glu235Lys RISN_OA1:c.730A>G commonName Ile 244 Val RISN_OA1:c.730A>G phenoCommon OA1 RISN_OA1:c.730A>G protEffect p.Ile244Val RISN_OA1:c.754_767del commonName 754del14bp RISN_OA1:c.754_767del phenoCommon OA1 RISN_OA1:c.779A>T commonName Ile 261 Asn RISN_OA1:c.779A>T phenoCommon OA1 RISN_OA1:c.779A>T protEffect p.Ile261Asn RISN_OA1:c.812A>G commonName Glu 271 Gly RISN_OA1:c.812A>G phenoCommon OA1 RISN_OA1:c.812A>G protEffect p.Glu271Gly RISN_OA1:c.885+1G>A commonName IVS7+1g-a RISN_OA1:c.885+1G>A phenoCommon OA1 RISN_OA1:c.868_870delACC commonName 868delACC RISN_OA1:c.868_870delACC phenoCommon OA1 RISN_OA1:c.874T>G commonName Trp 292 Gly RISN_OA1:c.874T>G phenoCommon OA1 RISN_OA1:c.874T>G protEffect p.Trp292Gly RISN_OA1:c.876G>T commonName Trp 292 Cys RISN_OA1:c.876G>T phenoCommon OA1 RISN_OA1:c.876G>T protEffect p.Trp292Cys RISN_OA1:c.876G>A commonName Trp 292 ter RISN_OA1:c.876G>A phenoCommon OA1 RISN_OA1:c.876G>A protEffect p.Trp292X RISN_OA1:c.931_932insCG commonName 932insCG RISN_OA1:c.931_932insCG phenoCommon OA1 RISN_OA1:c.1215*194C>T commonName 1409c/t RISN_CRB1:c.478dupG commonName 478insG RISN_CRB1:c.478dupG phenoCommon ARRP RISN_CRB1:c.2882_2884delTAT commonName 2882delTAT RISN_CRB1:c.2882_2884delTAT phenoCommon ARRP RISN_CRB1:c.3961T>A commonName Cys 1321 Ser RISN_CRB1:c.3961T>A phenoCommon ARRP RISN_CRB1:c.3961T>A protEffect p.Cys1321Ser RISN_CRB1:c.3961_3970del commonName 3343del10bp RISN_CRB1:c.3961_3970del phenoCommon ARRP RISN_CRB1:c.482C>T commonName Ala 161 Val RISN_CRB1:c.482C>T phenoCommon ARRP (RP12) RISN_CRB1:c.482C>T protEffect p.Ala161Val RISN_CRB1:c.750T>G commonName Cys 250 Trp RISN_CRB1:c.750T>G phenoCommon ARRP (RP12) RISN_CRB1:c.750T>G protEffect p.Cys250Trp RISN_CRB1:c.1208C>G commonName Ser 403 ter RISN_CRB1:c.1208C>G phenoCommon ARRP (RP12) RISN_CRB1:c.1208C>G protEffect p.Ser403X RISN_CRB1:c.2234C>T commonName Thr 745 Met RISN_CRB1:c.2234C>T phenoCommon ARRP (RP12) RISN_CRB1:c.2234C>T protEffect p.Thr745Met RISN_CRB1:c.2244_2246delATC commonName 2244delATC RISN_CRB1:c.2244_2246delATC phenoCommon ARRP (RP12) RISN_CRB1:c.2290C>T commonName Arg 764 Cys RISN_CRB1:c.2290C>T phenoCommon ARRP (RP12) RISN_CRB1:c.2290C>T protEffect p.Arg764Cys RISN_CRB1:c.2842T>A commonName Cys 948 Tyr RISN_CRB1:c.2842T>A phenoCommon ARRP (RP12) RISN_CRB1:c.2842T>A protEffect p.Cys948Tyr RISN_CRB1:c.2843G>A commonName Cys 948 Tyr RISN_CRB1:c.2843G>A phenoCommon ARRP (RP12) RISN_CRB1:c.2843G>A protEffect p.Cys948Tyr RISN_CRB1:c.2983G>T commonName Glu 995 ter RISN_CRB1:c.2983G>T phenoCommon ARRP (RP12) RISN_CRB1:c.2983G>T protEffect p.Glu995X RISN_CRB1:c.3122T>C commonName Met 1041 Thr RISN_CRB1:c.3122T>C phenoCommon ARRP (RP12) RISN_CRB1:c.3122T>C protEffect p.Met1041Thr RISN_CRB1:c.3212T>C commonName Leu 1071 Pro RISN_CRB1:c.3212T>C phenoCommon ARRP (RP12) RISN_CRB1:c.3212T>C protEffect p.Leu1071Pro RISN_CRB1:c.2671T>G commonName Cys 891 Gly RISN_CRB1:c.2671T>G phenoCommon early onset RP RISN_CRB1:c.2671T>G protEffect p.Cys891Gly RISN_CRB1:c.3299T>C commonName Ile 1100 Thr RISN_CRB1:c.3299T>C phenoCommon early onset RP + macular symptoms RISN_CRB1:c.3299T>C protEffect p.Ile1100Thr RISN_CRB1:c.614T>C commonName Ile 205 Thr RISN_CRB1:c.614T>C phenoCommon LCA RISN_CRB1:c.614T>C protEffect p.Ile205Thr RISN_CRB1:c.111delT commonName 111delT RISN_CRB1:c.111delT phenoCommon LCA6 RISN_CRB1:c.257_258insGT commonName 285insGT RISN_CRB1:c.257_258insGT phenoCommon LCA6 RISN_CRB1:c.428_432del commonName 428del5bp RISN_CRB1:c.428_432del phenoCommon LCA6 RISN_CRB1:c.430T>G commonName Phe 144 Val RISN_CRB1:c.430T>G phenoCommon LCA6 RISN_CRB1:c.430T>G protEffect p.Phe144Val RISN_CRB1:c.611_617del commonName 611del7bp RISN_CRB1:c.611_617del phenoCommon LCA6 RISN_CRB1:c.613_619del commonName 613del7bp RISN_CRB1:c.613_619del phenoCommon LCA6 RISN_CRB1:c.616_621del commonName 616del6bp RISN_CRB1:c.616_621del phenoCommon LCA6 RISN_CRB1:c.866C>T commonName Thr 289 Met RISN_CRB1:c.866C>T phenoCommon LCA6 RISN_CRB1:c.866C>T protEffect p.Thr289Met RISN_CRB1:c.1148G>A commonName Cys 383 Tyr RISN_CRB1:c.1148G>A phenoCommon LCA6 RISN_CRB1:c.1148G>A protEffect p.Cys383Tyr RISN_CRB1:c.1438T>C commonName Cys 480 Arg RISN_CRB1:c.1438T>C phenoCommon LCA6 RISN_CRB1:c.1438T>C protEffect p.Cys480Arg RISN_CRB1:c.1439G>A commonName Cys 480 Gly RISN_CRB1:c.1439G>A phenoCommon LCA6 RISN_CRB1:c.1439G>A protEffect p.Cys480Gly RISN_CRB1:c.2042G>A commonName Cys 681 Tyr RISN_CRB1:c.2042G>A phenoCommon LCA6 RISN_CRB1:c.2042G>A protEffect p.Cys681Tyr RISN_CRB1:c.2128G>C commonName Glu 710 Gln RISN_CRB1:c.2128G>C phenoCommon LCA6 RISN_CRB1:c.2128G>C protEffect p.Glu710Gln RISN_CRB1:c.2222T>C commonName Met 741 Thr RISN_CRB1:c.2222T>C phenoCommon LCA6 RISN_CRB1:c.2222T>C protEffect p.Met741Thr RISN_CRB1:c.2441T>A commonName Lys 801 ter RISN_CRB1:c.2441T>A phenoCommon LCA6 RISN_CRB1:c.2441T>A protEffect p.Lys801X RISN_CRB1:c.2479G>T commonName Gly 827 ter RISN_CRB1:c.2479G>T phenoCommon LCA6 RISN_CRB1:c.2479G>T protEffect p.Gly827X RISN_CRB1:c.2548_2551del commonName 2548del4bp RISN_CRB1:c.2548_2551del phenoCommon LCA6 RISN_CRB1:c.2555T>C commonName Ile 852 Thr RISN_CRB1:c.2555T>C phenoCommon LCA6 RISN_CRB1:c.2555T>C protEffect p.Ile852Thr RISN_CRB1:c.2613dupT commonName 2613insT RISN_CRB1:c.2613dupT phenoCommon LCA6 RISN_CRB1:c.2688T>A commonName Cys 896 ter RISN_CRB1:c.2688T>A phenoCommon LCA6 RISN_CRB1:c.2688T>A protEffect p.Cys896X RISN_CRB1:c.2853dupT commonName 2853insT RISN_CRB1:c.2853dupT phenoCommon LCA6 RISN_CRB1:c.3074G>T commonName Ser 1025 Ile RISN_CRB1:c.3074G>T phenoCommon LCA6 RISN_CRB1:c.3074G>T protEffect p.Ser1025Ile RISN_CRB1:c.3299T>G commonName Ile 1100 Arg RISN_CRB1:c.3299T>G phenoCommon LCA6 RISN_CRB1:c.3299T>G protEffect p.Ile1100Arg RISN_CRB1:c.3307G>A commonName Gly 1103 Arg RISN_CRB1:c.3307G>A phenoCommon LCA6 RISN_CRB1:c.3307G>A protEffect p.Gly1103Arg RISN_CRB1:c.3320T>C commonName Leu 1107 Pro RISN_CRB1:c.3320T>C phenoCommon LCA6 RISN_CRB1:c.3320T>C protEffect p.Leu1107Pro RISN_CRB1:c.3320T>G commonName Leu 1107 Arg RISN_CRB1:c.3320T>G phenoCommon LCA6 RISN_CRB1:c.3320T>G protEffect p.Leu1107Arg RISN_CRB1:c.3331G>T commonName Glu 1111 ter RISN_CRB1:c.3331G>T phenoCommon LCA6 RISN_CRB1:c.3331G>T protEffect p.Glu1111X RISN_CRB1:c.3345delT commonName 3345delT RISN_CRB1:c.3345delT phenoCommon LCA6 RISN_CRB1:c.3614G>A commonName Gly 1205 Arg RISN_CRB1:c.3614G>A phenoCommon LCA6 RISN_CRB1:c.3614G>A protEffect p.Gly1205Arg RISN_CRB1:c.3879G>A commonName Trp 1293 ter RISN_CRB1:c.3879G>A phenoCommon LCA6 RISN_CRB1:c.3879G>A protEffect p.Trp1293X RISN_CRB1:c.3949A>C commonName Asn 1317 His RISN_CRB1:c.3949A>C phenoCommon LCA6 RISN_CRB1:c.3949A>C protEffect p.Asn1317His RISN_CRB1:c.4118_4127del commonName 4121del10bp RISN_CRB1:c.4118_4127del phenoCommon LCA6 RISN_CRB1:c.1410A>G commonName Leu 470 Leu RISN_CRB1:c.1410A>G protEffect p.Leu470Leu RISN_CRB1:c.1428C>T commonName Thr 476 Thr RISN_CRB1:c.1428C>T protEffect p.Thr476Thr RISN_CRB1:c.1647T>C commonName Asn 549 Asn RISN_CRB1:c.1647T>C protEffect p.Asn549Asn RISN_CRB1:c.2823G>A commonName Pro 941 Pro RISN_CRB1:c.2823G>A protEffect p.Pro941Pro RISN_CRB1:c.3171C>T commonName Asn 1057 Asn RISN_CRB1:c.3171C>T protEffect p.Asn1057Asn RISN_CRB1:c.3992G>A commonName Arg 1331 His RISN_CRB1:c.3992G>A protEffect p.Arg1331His RISN_CRB1:c.2035C>G commonName Gln 679 Glu RISN_CRB1:c.2035C>G phenoCommon Rare Sequence Variant RISN_CRB1:c.2035C>G protEffect p.Gln679Glu RISN_CRB1:c.2306G>A commonName Arg 769 His RISN_CRB1:c.2306G>A phenoCommon Rare Sequence Variant RISN_CRB1:c.2306G>A protEffect p.Arg769His RISN_CRB1:c.1298A>G commonName Tyr 433 Cys RISN_CRB1:c.1298A>G phenoCommon RP + Coats like exudates RISN_CRB1:c.1298A>G protEffect p.Tyr433Cys RISN_CRB1:c.2509G>C commonName Asp 837 His RISN_CRB1:c.2509G>C phenoCommon RP + Coats like exudates RISN_CRB1:c.2509G>C protEffect p.Asp837His RISN_CRB1:c.2681A>G commonName Asn 894 Ser RISN_CRB1:c.2681A>G phenoCommon RP + Coats like exudates RISN_CRB1:c.2681A>G protEffect p.Asn894Ser RISN_CRB1:c.3541T>C commonName Cys 1181 Arg RISN_CRB1:c.3541T>C phenoCommon RP + Coats like exudates RISN_CRB1:c.3541T>C protEffect p.Cys1181Arg RISN_TULP1:c.99+1G>A commonName IVS2+1g-a RISN_TULP1:c.99+1G>A phenoCommon ARRP RISN_TULP1:c.350-2_350delAGA commonName IVS4-2del agA RISN_TULP1:c.350-2_350delAGA phenoCommon ARRP RISN_TULP1:c.897delC commonName 896delC RISN_TULP1:c.897delC phenoCommon ARRP RISN_TULP1:c.1265C>G commonName Arg 422 Pro RISN_TULP1:c.1265C>G phenoCommon ARRP RISN_TULP1:c.1265C>G protEffect p.Arg422Pro RISN_TULP1:c.1381C>A commonName Ile 461 Leu RISN_TULP1:c.1381C>A phenoCommon ARRP RISN_TULP1:c.1381C>A protEffect p.Ile461Leu RISN_TULP1:c.1466A>G commonName Lys 489 Arg RISN_TULP1:c.1466A>G phenoCommon ARRP RISN_TULP1:c.1466A>G protEffect p.Lys489Arg RISN_TULP1:c.1495+1G>A commonName IVS14+1g-a RISN_TULP1:c.1495+1G>A phenoCommon Early-onset severe retinal degeneration RISN_TULP1:c.200G>C commonName Arg 67 Thr RISN_TULP1:c.200G>C protEffect p.Arg67Thr RISN_TULP1:c.360_383del commonName 360del24bp RISN_TULP1:c.719-19T>A commonName IVS7-19t/a RISN_TULP1:c.734C>T commonName Ala 245 Val RISN_TULP1:c.734C>T protEffect p.Ala245Val RISN_TULP1:c.776T>C commonName Ile 259 Thr RISN_TULP1:c.776T>C protEffect p.Ile259Thr RISN_TULP1:c.783C>G commonName Asn 261 Lys RISN_TULP1:c.783C>G protEffect p.Asn261Lys RISN_TULP1:c.805A>C commonName Lys 269 Gln RISN_TULP1:c.805A>C protEffect p.Lys269Gln RISN_TULP1:c.823-4A>C commonName IVS8-4a/c RISN_TULP1:c.1369A>G commonName Thr 456 Thr RISN_TULP1:c.1369A>G protEffect p.Thr456Thr RISN_TULP1:c.1492G>A commonName Ala 498 Thr RISN_TULP1:c.1492G>A protEffect p.Ala498Thr RISN_TULP1:c.1496-6C>A commonName IVS14-6c/a IPNMDB_423 commonName c.838T>G IPNMDB_423 alias Cys280Gly IPNMDB_275 phenoCommon CMT1X IPNMDB_275 commonName c.841_845delTCGGC IPNMDB_275 alias Ser281fs IPNMDB_274 phenoCommon CMT1X IPNMDB_274 commonName c.842C>A IPNMDB_274 alias Ser281X IPNMDB_967 phenoCommon HSN II IPNMDB_967 commonName c.[639delA]+[1584_1585delAG*] IPNMDB_967 alias [Arg214fs]+[Asp531fs*] IPNMDB_393 phenoCommon HSN II IPNMDB_393 commonName c.918_919insA IPNMDB_393 alias [Ser307fs]+[Ser307fs] IPNMDB_809 phenoCommon HSN II IPNMDB_809 commonName c.1064_1065delTC IPNMDB_809 alias [Ile355fs]+[Ile355fs] IPNMDB_810 phenoCommon HSN II IPNMDB_810 commonName c.1134_1135insT IPNMDB_810 alias [Asp379fs]+[Asp379fs] IPNMDB_400 phenoCommon dHMN CMT2 IPNMDB_400 commonName c.379C>T IPNMDB_400 alias Arg127Trp IPNMDB_401 phenoCommon CMT2 / dHMN IPNMDB_401 commonName c.404C>T IPNMDB_401 alias Ser135Phe IPNMDB_402 phenoCommon CMT2 IPNMDB_402 commonName c.406C>T IPNMDB_402 alias Arg136Trp IPNMDB_403 phenoCommon dHMN IPNMDB_403 commonName c.452C>T IPNMDB_403 alias Thr151Ile IPNMDB_847 phenoCommon dHMN IPNMDB_847 commonName c.544C>T IPNMDB_847 alias Pro182Ser IPNMDB_404 phenoCommon dHMN IPNMDB_404 commonName c.545C>T IPNMDB_404 alias Pro182Leu IPNMDB_405 phenoCommon dHMN II IPNMDB_405 commonName c.421A>G IPNMDB_405 alias Lys141Glu IPNMDB_406 phenoCommon dHMN II IPNMDB_406 commonName c.423G>C IPNMDB_406 alias Lys141Asn IPNMDB_745 phenoCommon CMT2 IPNMDB_745 commonName c.423G>T IPNMDB_745 alias Lys141Asn IPNMDB_889 phenoCommon dHMN VI or SMARD1 IPNMDB_889 commonName c.[50T>C]+[1488C>A] IPNMDB_889 alias [Leu17Pro]+[Cys496X] IPNMDB_755 phenoCommon dHMN VI or SMARD1 IPNMDB_755 commonName c.114delA IPNMDB_755 alias [Lys38fs]+[Lys38fs] IPNMDB_924 phenoCommon dHMN VI or SMARD1 IPNMDB_924 commonName c.[120delC]+[1060G>A] IPNMDB_924 alias [Leu40fs]+[Gly354Ser] IPNMDB_768 phenoCommon dHMN VI or SMARD1 IPNMDB_768 commonName c.[121delC]+[388C>T] IPNMDB_768 alias [Gln41fs]+[Arg130X] IPNMDB_546 phenoCommon dHMN VI or SMARD1 IPNMDB_546 commonName c.[121C>T]+[675delT] IPNMDB_546 alias [Gln41X]+[Val225fs] IPNMDB_554 phenoCommon Severe infantile neuropathy with diaphragmatic weakness IPNMDB_554 commonName c.[127C>T]+[1488C>A] IPNMDB_554 alias [Arg43X]+[Cys496X] IPNMDB_764 phenoCommon dHMN VI or SMARD1 IPNMDB_764 commonName c.[138T>A]+[1648_1649insG] IPNMDB_764 alias [Cys46X]+[Gln551fs] IPNMDB_896 phenoCommon dHMN VI or SMARD1 IPNMDB_896 commonName c.[163C>T]+[1969C>T] IPNMDB_896 alias [Gln55X]+[Gln657X] IPNMDB_550 phenoCommon - (polymorphism) IPNMDB_550 commonName c.180C>T IPNMDB_550 alias Tyr60Tyr IPNMDB_888 phenoCommon dHMN VI or SMARD1 IPNMDB_888 commonName c.388C>T IPNMDB_888 alias [Arg130X]+[Arg130X] IPNMDB_758 phenoCommon dHMN VI or SMARD1 IPNMDB_758 commonName c.[388C>T]+[1144G>A] IPNMDB_758 alias [Arg130X]+[Glu382Lys] IPNMDB_898 phenoCommon dHMN VI or SMARD1 IPNMDB_898 commonName c.[388C>T]+[1743A>C] IPNMDB_898 alias [Arg130X]+[Arg581Ser] IPNMDB_773 phenoCommon dHMN VI or SMARD1 IPNMDB_773 commonName c.[439C>T]+[2362C>T] IPNMDB_773 alias [Arg147X]+[Arg788X] IPNMDB_757 phenoCommon dHMN VI or SMARD1 IPNMDB_757 commonName c.[575T>C]+[1277T>C] IPNMDB_757 alias [Leu192Pro]+[Leu426Pro] IPNMDB_662 phenoCommon dHMN VI or SMARD1 IPNMDB_662 commonName c.[587A>G]+[1909C>T] IPNMDB_662 alias Gln196Arg + Arg603Cys IPNMDB_895 phenoCommon dHMN VI or SMARD1 IPNMDB_895 commonName c.[616C>T]+[1877delT] IPNMDB_895 alias [Gln206X]+[Leu626fs] IPNMDB_544 phenoCommon dHMN VI or SMARD1 IPNMDB_544 commonName c.638A>G IPNMDB_544 alias [His213Arg]+[His213Arg] IPNMDB_661 phenoCommon dHMN VI or SMARD1 IPNMDB_661 commonName c.[647C>T]+[1807C>T] IPNMDB_661 alias Pro216Leu + Arg603Cys IPNMDB_890 phenoCommon dHMN VI or SMARD1 IPNMDB_890 commonName c.[661delA]+[1415T>C] IPNMDB_890 alias [Thr221fs]+[Leu472Pro] IPNMDB_431 phenoCommon Severe infantile neuropathy with diaphragmatic weakness IPNMDB_431 commonName c.[661delA]+[?] IPNMDB_431 alias [Thr221fs] + [?] IPNMDB_774 phenoCommon dHMN VI or SMARD1 IPNMDB_774 commonName c.[661A>G]+[1813C>T] IPNMDB_774 alias [Thr221Ala]+[Arg605X] IPNMDB_767 phenoCommon dHMN VI or SMARD1 IPNMDB_767 commonName c.[707T>G]+[721T>C] IPNMDB_767 alias [Leu236X]+[Cys241Arg] IPNMDB_548 phenoCommon dHMN VI or SMARD1 IPNMDB_548 commonName c.707T>G IPNMDB_548 alias [Leu236X]+[Leu236X] IPNMDB_665 phenoCommon dHMN VI or SMARD1 IPNMDB_665 commonName c.[752T>C]+[1730T>C] IPNMDB_665 alias Leu251Pro + Leu577Pro IPNMDB_897 phenoCommon dHMN VI or SMARD1 IPNMDB_897 commonName c.[904C>T]+[1156T>C] IPNMDB_897 alias [Gln302X]+[Trp386Arg] IPNMDB_624 phenoCommon Severe infantile neuropathy with diaphragmatic weakness IPNMDB_624 commonName c.[958C>T]+[1488C>A] IPNMDB_624 alias [Arg320X]+[Cys496X] IPNMDB_660 phenoCommon Severe infantile neuropathy with diaphragmatic weakness IPNMDB_660 commonName c.[958C>T]+[1082T>C] IPNMDB_660 alias [Arg320X]+[Leu361Pro] IPNMDB_756 phenoCommon dHMN VI or SMARD1 IPNMDB_756 commonName c.983_987delAAGAA IPNMDB_756 alias [Lys328fs]+[Lys328fs] IPNMDB_769 phenoCommon dHMN VI or SMARD1 IPNMDB_769 commonName c.1000G>A IPNMDB_769 alias [Glu334Lys]+[Glu334Lys] IPNMDB_893 phenoCommon dHMN VI or SMARD1 IPNMDB_893 commonName c.[1060+1G>T]+[1082T>C] IPNMDB_893 alias [5'-splice site mutation]+[Leu361Pro] IPNMDB_425 phenoCommon Severe infantile neuropathy with diaphragmatic weakness IPNMDB_425 commonName c.[1082T>C]+[1488C>A] IPNMDB_425 alias [Leu361Pro]+[Cys496X] IPNMDB_761 phenoCommon dHMN VI or SMARD1 IPNMDB_761 commonName c.[1082T>C]+[1730T>C] IPNMDB_761 alias [Leu361Pro]+[Leu577Pro] IPNMDB_770 phenoCommon dHMN VI or SMARD1 IPNMDB_770 commonName c.[1091T>C]+[2436delT] IPNMDB_770 alias [Leu364Pro]+[Pro812fs] IPNMDB_753 phenoCommon dHMN VI or SMARD1 IPNMDB_753 commonName c.[1107C>G]+[256+?_1061-?del] IPNMDB_753 alias [Phe369Leu]+[Gly86_Thr353del] IPNMDB_891 phenoCommon dHMN VI or SMARD1 IPNMDB_891 commonName c.[1156T>C]+[1813C>T] IPNMDB_891 alias [Trp386Arg]+[Arg605X] IPNMDB_894 phenoCommon dHMN VI or SMARD1 IPNMDB_894 commonName c.[1218delC]+[1708C>T] IPNMDB_894 alias [Thr407fs]+[Arg570X] IPNMDB_892 phenoCommon dHMN VI or SMARD1 IPNMDB_892 commonName c.[1235+3A>G]+[1334A>C] IPNMDB_892 alias [Ala355fs]+[His445Pro] IPNMDB_547 phenoCommon Severe infantile neuropathy with diaphragmatic weakness IPNMDB_547 commonName c.1463delT IPNMDB_547 alias [Leu488fs]+[Leu488fs] IPNMDB_754 phenoCommon dHMN VI or SMARD1 IPNMDB_754 commonName c.1488C>A IPNMDB_754 alias [Cys496X]+[Cys496X] IPNMDB_763 phenoCommon dHMN VI or SMARD1 IPNMDB_763 commonName c.[1488C>A]+[1748A>T] IPNMDB_763 alias [Cys496X]+[Asn583Ile] IPNMDB_762 phenoCommon dHMN VI or SMARD1 IPNMDB_762 commonName c.[1488C>A]+[1808G>A] IPNMDB_762 alias [Cys496X]+[Arg603His] IPNMDB_664 phenoCommon dHMN VI or SMARD1 IPNMDB_664 commonName c.[1488C>A]+[?] IPNMDB_664 alias [Cys496X]+[?] IPNMDB_543 phenoCommon dHMN VI or SMARD1 IPNMDB_543 commonName c.1540G>A IPNMDB_543 alias [Glu514Lys]+[Glu514Lys] IPNMDB_771 phenoCommon dHMN VI or SMARD1 IPNMDB_771 commonName c.[1693G>A]+[1730T>C] IPNMDB_771 alias [Asp565Asn]+[Leu577Pro] IPNMDB_759 phenoCommon dHMN VI or SMARD1 IPNMDB_759 commonName c.[1714_1716delAAG]+[2922T>G] IPNMDB_759 alias [Lys572del]+[Asp974Glu] IPNMDB_545 phenoCommon dHMN VI or SMARD1 IPNMDB_545 commonName c.1738G>A IPNMDB_545 alias [Val580Ile]+[Val580Ile] IPNMDB_877 phenoCommon dHMN VI or SMARD1 IPNMDB_877 commonName c.[1738G>A]+[2356delG] IPNMDB_877 alias [V580I]+[A786fs] IPNMDB_772 phenoCommon dHMN VI or SMARD1 IPNMDB_772 commonName c.[1756G>T]+[1909C>T] IPNMDB_772 alias [Gly586Cys]+[Arg637Cys] IPNMDB_760 phenoCommon dHMN VI or SMARD1 IPNMDB_760 commonName c.[2362C>T]+[?] IPNMDB_760 alias [Arg788X]+[?] IPNMDB_549 phenoCommon dHMN VI or SMARD1 IPNMDB_549 commonName c.2611+1G>T IPNMDB_549 alias [5'-splice site]+[5'-splice site] IPNMDB_744 phenoCommon dHMN VI or SMARD1/polymorphism IPNMDB_744 commonName c.2636C>A IPNMDB_744 alias [Thr879Lys]+[Thr879Lys] IPNMDB_552 phenoCommon - (polymorphism) IPNMDB_552 commonName c.2636C>A IPNMDB_552 alias Thr879Lys IPNMDB_553 phenoCommon - (polymorphism) IPNMDB_553 commonName c.2784+54G>A IPNMDB_514 phenoCommon Familial dysautonomia or Riley-Day syndrome or HSN III IPNMDB_514 commonName c.[2087G>C]+[2204+6T>C] IPNMDB_514 alias [Arg696Pro]+[5'-splice site (skipping ex20)] IPNMDB_513 phenoCommon Familial dysautonomia or Riley-Day syndrome or HSN III IPNMDB_513 commonName c.2204+6T>C IPNMDB_513 alias [5'-splice site]+[5'-splice site] IPNMDB_363 phenoCommon Familial dysautonomia or Riley-Day syndrome or HSN III IPNMDB_363 commonName c.[2204+6T>C]+[2741C>T] IPNMDB_363 alias [5'-splice-site]+[Pro914Leu] IPNMDB_705 phenoCommon CMT2 / polymorphism IPNMDB_705 commonName c.146C>T IPNMDB_705 alias Thr49Met IPNMDB_712 phenoCommon - (polymorphism) IPNMDB_712 commonName c.220+38T>C IPNMDB_407 phenoCommon - (polymorphism) IPNMDB_407 commonName c.222T>C IPNMDB_407 alias Ile74Ile IPNMDB_713 phenoCommon - (polymorphism) IPNMDB_713 commonName c.274A>G IPNMDB_713 alias Ile92Val IPNMDB_707 phenoCommon - (polymorphism) IPNMDB_707 commonName c.330C>T IPNMDB_707 alias Asn110Asn IPNMDB_859 phenoCommon CMT1 IPNMDB_859 commonName c.332C>G IPNMDB_859 alias Ala111Gly IPNMDB_640 phenoCommon CMT1 IPNMDB_640 commonName c.334G>A IPNMDB_640 alias Gly112Ser IPNMDB_639 phenoCommon CMT1 IPNMDB_639 commonName c.344C>A IPNMDB_639 alias Thr115Asn IPNMDB_641 phenoCommon CMT1 IPNMDB_641 commonName c.346T>G IPNMDB_641 alias Trp116Gly IPNMDB_704 phenoCommon CMT1 IPNMDB_704 commonName c.364C>G IPNMDB_704 alias Leu122Val IPNMDB_714 phenoCommon - (polymorphism) IPNMDB_714 commonName c.378-29C>T IPNMDB_861 phenoCommon CMT1 IPNMDB_861 commonName c.403C>A IPNMDB_861 alias Pro135Thr IPNMDB_860 phenoCommon CMT1 IPNMDB_860 commonName c.403C>T IPNMDB_860 alias Pro135Ser IPNMDB_708 phenoCommon - (polymorphism) IPNMDB_708 commonName c.477G>A IPNMDB_708 alias Lys159Lys IPNMDB_709 phenoCommon - (polymorphism) IPNMDB_709 commonName c.539C>G IPNMDB_709 alias 3'UTR IPNMDB_710 phenoCommon - (polymorphism) IPNMDB_710 commonName c.585C>T IPNMDB_710 alias 3'UTR IPNMDB_711 phenoCommon - (polymorphism) IPNMDB_711 commonName c.629C>T IPNMDB_711 alias 3'UTR IPNMDB_706 phenoCommon CMT1 IPNMDB_706 commonName c.671T>C IPNMDB_706 alias 3'UTR IPNMDB_690 phenoCommon CMT2 + muscular dystrophy+ cardiac disease + leuconichia IPNMDB_690 commonName c.99G>T IPNMDB_690 alias Glu33Asp IPNMDB_567 phenoCommon CMT2 IPNMDB_567 commonName c.892C>T IPNMDB_567 alias [Arg298Cys]+[Arg298Cys] IPNMDB_938 phenoCommon scapuloperoneal myopathy and axonal neuropathy IPNMDB_938 commonName c.1711C>T IPNMDB_938 alias Arg571Cys IPNMDB_876 phenoCommon CMT2 IPNMDB_876 commonName c.134A>G IPNMDB_876 alias Gln45Arg IPNMDB_387 phenoCommon CMT2 + tremor, fatigue IPNMDB_387 commonName c.205G>T IPNMDB_387 alias Val69Phe IPNMDB_383 phenoCommon CMT2 IPNMDB_383 commonName c.227T>C IPNMDB_383 alias Leu76Pro IPNMDB_784 phenoCommon CMT2 IPNMDB_784 commonName c.275T>C IPNMDB_784 alias Leu92Pro IPNMDB_391 phenoCommon CMT2 (+ optic atrophy + migraine) IPNMDB_391 commonName c.280C>T IPNMDB_391 alias Arg94Trp IPNMDB_386 phenoCommon CMT2 + tremor IPNMDB_386 commonName c.281G>A IPNMDB_386 alias Arg94Gln IPNMDB_785 phenoCommon CMT2 IPNMDB_785 commonName c.299C>G IPNMDB_785 alias Ala100Gly IPNMDB_390 phenoCommon CMT2 + ataxia, scoliosis IPNMDB_390 commonName c.314C>T IPNMDB_390 alias Thr105Met IPNMDB_786 phenoCommon CMT2 IPNMDB_786 commonName c.368C>T IPNMDB_786 alias Pro123Leu IPNMDB_817 phenoCommon CMT2 IPNMDB_817 commonName c.380G>A IPNMDB_817 alias Gly127Asp IPNMDB_839 phenoCommon CMT2 IPNMDB_839 commonName c.380G>T IPNMDB_839 alias Gly127Val IPNMDB_844 phenoCommon CMT2 + pyramidal signs IPNMDB_844 commonName c.493C>G IPNMDB_844 alias His165Asp IPNMDB_788 phenoCommon CMT2 IPNMDB_788 commonName c.493C>T IPNMDB_788 alias His165Tyr IPNMDB_787 phenoCommon CMT2 IPNMDB_787 commonName c.494A>G IPNMDB_787 alias His165Arg IPNMDB_797 phenoCommon CMT2 + optic atrophy IPNMDB_797 commonName c.617C>T IPNMDB_797 alias Thr206Ile IPNMDB_822 phenoCommon CMT2 IPNMDB_822 commonName c.638T>C IPNMDB_822 alias Ile213Thr IPNMDB_715 phenoCommon CMT1 IPNMDB_715 commonName c.669T>A IPNMDB_715 alias Phe223Leu IPNMDB_716 phenoCommon CMT2 IPNMDB_716 commonName c.707C>T IPNMDB_716 alias Thr236Met IPNMDB_717 phenoCommon CMT2 IPNMDB_717 commonName c.730G>A IPNMDB_717 alias Val244Met IPNMDB_789 phenoCommon CMT2 IPNMDB_789 commonName c.[748C>T]+[1198C>T] IPNMDB_789 alias Arg250Trp+Arg400X IPNMDB_790 phenoCommon CMT2 IPNMDB_790 commonName c.749G>A IPNMDB_790 alias Arg250Gln IPNMDB_385 phenoCommon CMT2 + tremor IPNMDB_385 commonName c.751C>G IPNMDB_385 alias Pro251Ala IPNMDB_818 phenoCommon CMT2 IPNMDB_818 commonName c.787T>C IPNMDB_818 alias Ser263Pro IPNMDB_821 phenoCommon CMT2 IPNMDB_821 commonName c.818T>G IPNMDB_821 alias Val273Gly IPNMDB_389 phenoCommon CMT2 IPNMDB_389 commonName c.821G>A IPNMDB_389 alias Arg274Gln IPNMDB_798 phenoCommon CMT2 + optic atrophy IPNMDB_798 commonName c.827A>G IPNMDB_798 alias Gln276Arg IPNMDB_791 phenoCommon CMT2 IPNMDB_791 commonName c.830A>G IPNMDB_791 alias His277Arg IPNMDB_384 phenoCommon CMT2 IPNMDB_384 commonName c.839G>A IPNMDB_384 alias Arg280His IPNMDB_718 phenoCommon CMT2 IPNMDB_718 commonName c.851T>A IPNMDB_718 alias Phe284Tyr IPNMDB_824 phenoCommon - (polymorphism) IPNMDB_824 commonName c.892G>A IPNMDB_824 alias Gly298Arg IPNMDB_823 phenoCommon - (polymorphism) IPNMDB_823 commonName c.957C>T IPNMDB_823 alias Gly319Gly IPNMDB_840 phenoCommon CMT2 IPNMDB_840 commonName c.1040A>T IPNMDB_840 alias Glu347Val IPNMDB_846 phenoCommon CMT2 IPNMDB_846 commonName c.1048T>C IPNMDB_846 alias Ser350Pro IPNMDB_719 phenoCommon CMT2 IPNMDB_719 commonName c.1071G>C IPNMDB_719 alias Lys357Asn IPNMDB_799 phenoCommon CMT2 + optic atrophy IPNMDB_799 commonName c.1081C>T IPNMDB_799 alias His361Tyr IPNMDB_819 phenoCommon CMT2 IPNMDB_819 commonName c.1085C>T IPNMDB_819 alias Thr362Met IPNMDB_800 phenoCommon CMT2 + optic atrophy IPNMDB_800 commonName c.1090C>T IPNMDB_800 alias Arg364Trp IPNMDB_820 phenoCommon CMT2 IPNMDB_820 commonName c.1127T>C IPNMDB_820 alias Met376Thr IPNMDB_792 phenoCommon CMT2 IPNMDB_792 commonName c.1128G>A IPNMDB_792 alias Met376Ile IPNMDB_793 phenoCommon CMT2 IPNMDB_793 commonName c.1134_1142delCCTGCACAT IPNMDB_793 alias Leu379_Met381del IPNMDB_919 phenoCommon CMT2 IPNMDB_919 commonName c.1148C>T IPNMDB_919 alias Ala383Val IPNMDB_794 phenoCommon CMT2 IPNMDB_794 commonName c.[1157A>C;1158G>T] IPNMDB_794 alias Gln386Pro IPNMDB_388 phenoCommon CMT2 + optic atrophy IPNMDB_388 commonName c.1252C>T IPNMDB_388 alias Arg418X IPNMDB_720 phenoCommon CMT2 IPNMDB_720 commonName c.1271A>G IPNMDB_720 alias Glu424Gly IPNMDB_841 phenoCommon CMT2 / - (polymorphism) IPNMDB_841 commonName c.1403G>A IPNMDB_841 alias Arg468His IPNMDB_842 phenoCommon CMT2 / - (polymorphism) IPNMDB_842 commonName c.2113G>A IPNMDB_842 alias Val705Ile IPNMDB_795 phenoCommon CMT2 IPNMDB_795 commonName c.2129T>C IPNMDB_795 alias Leu710Pro IPNMDB_382 phenoCommon CMT2 IPNMDB_382 commonName c.2219G>C IPNMDB_382 alias Trp740Ser IPNMDB_796 phenoCommon CMT2 IPNMDB_796 commonName c.2251C>T IPNMDB_796 alias Gln751X IPNMDB_843 phenoCommon CMT2 IPNMDB_843 commonName c.2258_2259insT IPNMDB_843 alias Leu753fs IPNMDB_573 phenoCommon - (polymorphism) IPNMDB_573 commonName c.24C>T IPNMDB_573 alias Ser8Ser IPNMDB_849 phenoCommon CMT2 IPNMDB_849 commonName c.59C>T IPNMDB_849 alias Ser20Phe IPNMDB_340 phenoCommon CMT1 IPNMDB_340 commonName c.88_90delATCinsGGGGTTTACACC IPNMDB_340 alias Ile30delinsGlyValTyrThr IPNMDB_851 phenoCommon DSS IPNMDB_851 commonName c.89T>C IPNMDB_851 alias Ile30Thr IPNMDB_39 phenoCommon CMT1 IPNMDB_39 commonName c.90C>G IPNMDB_39 alias Ile30Met IPNMDB_40 phenoCommon CMT1-severe IPNMDB_40 commonName c.94G>T IPNMDB_40 alias Val32Phe IPNMDB_41 phenoCommon CMT1 IPNMDB_41 commonName c.101C>T IPNMDB_41 alias Thr34Ile IPNMDB_353 phenoCommon CMT1/2 IPNMDB_353 commonName c.103G>T IPNMDB_353 alias Asp35Tyr IPNMDB_831 phenoCommon CMT2 + pain IPNMDB_831 commonName c.106A>T IPNMDB_831 alias Arg36Trp IPNMDB_666 phenoCommon CMT1/2 (+ hearing loss + restless legs) IPNMDB_666 commonName c.116A>C IPNMDB_666 alias His39Pro IPNMDB_376 phenoCommon DSS IPNMDB_376 commonName c.[123_125delTGT]+[661G>A] IPNMDB_376 alias [Val42del]+[Ala221Thr] IPNMDB_42 phenoCommon CMT2 IPNMDB_42 commonName c.131C>T IPNMDB_42 alias Ser44Phe IPNMDB_429 phenoCommon - (polymorphism) IPNMDB_429 commonName c.134G>A IPNMDB_429 alias Arg45Gln IPNMDB_832 phenoCommon CMT1 IPNMDB_832 commonName c.143T>C IPNMDB_832 alias Leu48Pro IPNMDB_667 phenoCommon CMT1 IPNMDB_667 commonName c.149_175del27 IPNMDB_667 alias Cys50_Val58del IPNMDB_489 phenoCommon CMT1 IPNMDB_489 commonName c.152C>T IPNMDB_489 alias Ser51Phe IPNMDB_339 phenoCommon CMT1 IPNMDB_339 commonName c.160T>C IPNMDB_339 alias Ser54Pro IPNMDB_43 phenoCommon CMT1-severe IPNMDB_43 commonName c.161C>G IPNMDB_43 alias Ser54Cys IPNMDB_412 phenoCommon CMT2 IPNMDB_412 commonName c.166G>A IPNMDB_412 alias Glu56Lys IPNMDB_44 phenoCommon CMT1 IPNMDB_44 commonName c.172G>T IPNMDB_44 alias Val58Phe IPNMDB_670 phenoCommon CMT1 IPNMDB_670 commonName c.173T>A IPNMDB_670 alias Val58Asp IPNMDB_415 phenoCommon CMT2 IPNMDB_415 commonName c.178G>C IPNMDB_415 alias Asp60His IPNMDB_506 phenoCommon CMT1/2 IPNMDB_506 commonName c.181G>A IPNMDB_506 alias Asp61Asn IPNMDB_332 phenoCommon CMT2 IPNMDB_332 commonName c.182A>G IPNMDB_332 alias Asp61Gly IPNMDB_45 phenoCommon CMT1 with focally folded myelin IPNMDB_45 commonName c.184A>T IPNMDB_45 alias Ile62Phe IPNMDB_416 phenoCommon CMT2 IPNMDB_416 commonName c.186C>G IPNMDB_416 alias Ile62Met IPNMDB_46 phenoCommon DSS IPNMDB_46 commonName c.188C>G IPNMDB_46 alias Ser63Cys IPNMDB_47 phenoCommon CMT1 IPNMDB_47 commonName c.188C>T IPNMDB_47 alias Ser63Phe IPNMDB_48 phenoCommon CMT1 IPNMDB_48 commonName c.188_190delCCT IPNMDB_48 alias Ser63del IPNMDB_49 phenoCommon CMT1 (htz) / DSS (hmz) IPNMDB_49 commonName c.190_192delTTC IPNMDB_49 alias Phe64del IPNMDB_411 phenoCommon CMT1with focally folded myelin IPNMDB_411 commonName c.193A>G IPNMDB_411 alias Thr65Ala IPNMDB_683 phenoCommon CMT1 IPNMDB_683 commonName c.194C>A IPNMDB_683 alias Thr65Asn IPNMDB_626 phenoCommon CMT1 IPNMDB_626 commonName c.194C>T IPNMDB_626 alias Thr65Ile IPNMDB_777 phenoCommon CMT1 IPNMDB_777 commonName c.200G>C IPNMDB_777 alias Arg67Pro IPNMDB_50 phenoCommon CMT1-severe IPNMDB_50 commonName c.203A>G IPNMDB_50 alias Tyr68Cys IPNMDB_912 phenoCommon CMT2 IPNMDB_912 commonName c.208C>T IPNMDB_912 alias Pro70Ser IPNMDB_51 phenoCommon CMT1 IPNMDB_51 commonName c.223delG IPNMDB_51 alias Asp75fs IPNMDB_470 phenoCommon CMT2 IPNMDB_470 commonName c.224A>T IPNMDB_470 alias Asp75Val IPNMDB_333 phenoCommon CMT2 / polymorphism IPNMDB_333 commonName c.227C>T IPNMDB_333 alias Ala76Val IPNMDB_370 phenoCommon CMT1 IPNMDB_370 commonName c.233C>G IPNMDB_370 alias Ser78Trp IPNMDB_52 phenoCommon CMT1-severe (focally folded myelin) IPNMDB_52 commonName c.233C>T IPNMDB_52 alias Ser78Leu IPNMDB_505 phenoCommon CMT1 IPNMDB_505 commonName c.211G>T IPNMDB_505 alias Glu71X IPNMDB_338 phenoCommon CMT1 IPNMDB_338 commonName c.[241C>T;337G>T] IPNMDB_338 alias [His81Tyr;Val113Phe] IPNMDB_53 phenoCommon CMT1-severe (+ trigeminal nerve thickening) IPNMDB_53 commonName c.242A>G IPNMDB_53 alias His81Arg IPNMDB_850 phenoCommon CMT2 IPNMDB_850 commonName c.244T>C IPNMDB_850 alias Tyr82His IPNMDB_54 phenoCommon CMT1 / DSS IPNMDB_54 commonName c.245A>G IPNMDB_54 alias Tyr82Cys IPNMDB_55 phenoCommon DSS IPNMDB_55 commonName c.258_265delACCCTACAinsCCTCT IPNMDB_55 alias Gln86_Ile89delinsHisLeuPhe IPNMDB_371 phenoCommon CMT2 IPNMDB_371 commonName c.266T>A+274G>A+486C>G IPNMDB_371 alias Ile89Asn+Val92Met+Ile162Met IPNMDB_56 phenoCommon CMT1 IPNMDB_56 commonName c.270C>A IPNMDB_56 alias Asp90Glu IPNMDB_97 phenoCommon - (polymorphism) IPNMDB_97 commonName c.276G>A IPNMDB_97 alias Val92Val IPNMDB_57 phenoCommon CMT1 IPNMDB_57 commonName c.278G>A IPNMDB_57 alias Gly93Glu IPNMDB_58 phenoCommon CMT1 IPNMDB_58 commonName c.286A>G IPNMDB_58 alias Lys96Glu IPNMDB_542 phenoCommon CMT2 and deafness and pupillary abnormalities IPNMDB_542 commonName c.290A>T IPNMDB_542 alias Glu97Val IPNMDB_61 phenoCommon CMT1 IPNMDB_61 commonName c.292C>A IPNMDB_61 alias Arg98Ser IPNMDB_59 phenoCommon CMT1-severe / DSS IPNMDB_59 commonName c.292C>T IPNMDB_59 alias Arg98Cys IPNMDB_60 phenoCommon CMT1 IPNMDB_60 commonName c.293G>A IPNMDB_60 alias Arg98His IPNMDB_62 phenoCommon CMT1 IPNMDB_62 commonName c.293G>C IPNMDB_62 alias Arg98Pro IPNMDB_63 phenoCommon CMT1 / CIDP IPNMDB_63 commonName c.296T>C IPNMDB_63 alias Ile99Thr IPNMDB_64 phenoCommon CMT1 IPNMDB_64 commonName c.303G>C IPNMDB_64 alias Trp101Cys IPNMDB_65 phenoCommon CMT1 (htz) / DSS (hmz) IPNMDB_65 commonName c.306delA IPNMDB_65 alias Val102fs IPNMDB_578 phenoCommon CMT1 IPNMDB_578 commonName c.308G>A IPNMDB_578 alias Gly103Glu IPNMDB_901 phenoCommon CMT2 + hearing impairment IPNMDB_901 commonName c.313C>A IPNMDB_901 alias Pro105Thr IPNMDB_421 phenoCommon CMT1 IPNMDB_421 commonName c.325G>A IPNMDB_421 alias Asp109Asn IPNMDB_414 phenoCommon CMT2 IPNMDB_414 commonName c.327T>A IPNMDB_414 alias Asp109Glu IPNMDB_560 phenoCommon DSS IPNMDB_560 commonName c.329G>A IPNMDB_560 alias Gly110Asp IPNMDB_66 phenoCommon CMT1-severe IPNMDB_66 commonName c.335T>C IPNMDB_66 alias Ile112Thr IPNMDB_627 phenoCommon - (polymorphism) IPNMDB_627 commonName c.337G>A IPNMDB_627 alias Val113Ile IPNMDB_67 phenoCommon DSS IPNMDB_67 commonName c.[341T>C;346A>C;382G>A] IPNMDB_67 alias [Ile114Thr;Asn116His;Asp128Asn] IPNMDB_722 phenoCommon CMT2 IPNMDB_722 commonName c.352G>A IPNMDB_722 alias Asp118Asn IPNMDB_68 phenoCommon DSS IPNMDB_68 commonName c.355_356insTCTACT IPNMDB_68 alias Asp118_Tyr119insPheTyr IPNMDB_331 phenoCommon CMT2 IPNMDB_331 commonName c.356A>G IPNMDB_331 alias Tyr119Cys IPNMDB_69 phenoCommon CMT1 IPNMDB_69 commonName c.365A>G IPNMDB_69 alias Asn122Ser IPNMDB_372 phenoCommon DSS IPNMDB_372 commonName c.367G>T IPNMDB_372 alias Gly123Cys IPNMDB_776 phenoCommon CMT1 IPNMDB_776 commonName c.367G>A IPNMDB_776 alias Gly123Ser IPNMDB_413 phenoCommon CH IPNMDB_413 commonName c.371C>A IPNMDB_413 alias Thr124Lys IPNMDB_70 phenoCommon CMT1/2 (+ pupillary abnormalities + deafness + chronic cough) IPNMDB_70 commonName c.371C>T IPNMDB_70 alias Thr124Met IPNMDB_71 phenoCommon DSS IPNMDB_71 commonName c.372_377delGTTCAC IPNMDB_71 alias Phe125_Thr126del IPNMDB_72 phenoCommon DSS IPNMDB_72 commonName c.380G>A IPNMDB_72 alias Cys127Tyr IPNMDB_418 phenoCommon CMT1 IPNMDB_418 commonName c.382G>A IPNMDB_418 alias Asp128Asn IPNMDB_73 phenoCommon CMT1 IPNMDB_73 commonName c.384C>G IPNMDB_73 alias Asp128Glu IPNMDB_74 phenoCommon CMT1 / DSS IPNMDB_74 commonName c.389A>G IPNMDB_74 alias Lys130Arg IPNMDB_424 phenoCommon CMT1 (Roussy-Lévy syndrome) (+ focally folded myelin sheaths) IPNMDB_424 commonName c.393C>A IPNMDB_424 alias Asn131Lys IPNMDB_75 phenoCommon CMT1 IPNMDB_75 commonName c.395C>T IPNMDB_75 alias Pro132Leu IPNMDB_77 phenoCommon CMT1 IPNMDB_77 commonName c.400G>A IPNMDB_77 alias Asp134Asn IPNMDB_341 phenoCommon CMT1 IPNMDB_341 commonName c.401A>G IPNMDB_341 alias Asp134Gly IPNMDB_76 phenoCommon CMT1 IPNMDB_76 commonName c.402C>A IPNMDB_76 alias Asp134Glu IPNMDB_78 phenoCommon CMT1 IPNMDB_78 commonName c.403A>C IPNMDB_78 alias Ile135Leu IPNMDB_79 phenoCommon CMT1 / DSS IPNMDB_79 commonName c.404T>C IPNMDB_79 alias Ile135Thr IPNMDB_373 phenoCommon DSS IPNMDB_373 commonName c.407T>A IPNMDB_373 alias Val136Glu IPNMDB_80 phenoCommon CMT1 IPNMDB_80 commonName c.409G>A IPNMDB_80 alias Gly137Ser IPNMDB_342 phenoCommon CMT1 IPNMDB_342 commonName c.414G>C IPNMDB_342 alias Lys138Asn IPNMDB_343 phenoCommon CMT1 IPNMDB_343 commonName c.416C>A IPNMDB_343 alias Thr139Asn IPNMDB_575 phenoCommon CMT1 IPNMDB_575 commonName c.418T>A IPNMDB_575 alias Ser140Thr IPNMDB_490 phenoCommon CMT2 IPNMDB_490 commonName c.421C>T IPNMDB_490 alias Gln141X IPNMDB_81 phenoCommon CMT1 IPNMDB_81 commonName c.428C>T IPNMDB_81 alias Thr143Met IPNMDB_362 phenoCommon CMT1/2 (+ deafness) (+pupillary abnormalities in hmz) IPNMDB_362 commonName c.434A>C IPNMDB_362 alias Tyr145Ser IPNMDB_439 phenoCommon CMT1 IPNMDB_439 commonName c.436G>T IPNMDB_439 alias Val146Phe IPNMDB_82 phenoCommon CMT1 IPNMDB_82 commonName c.449-1G>C IPNMDB_82 alias 3'-splice site IPNMDB_723 phenoCommon CMT1 IPNMDB_723 commonName c.449-1G>T IPNMDB_723 alias 3' splice site IPNMDB_83 phenoCommon CMT1 IPNMDB_83 commonName c.462C>A IPNMDB_83 alias Tyr154X IPNMDB_84 phenoCommon CMT1 IPNMDB_84 commonName c.487G>A IPNMDB_84 alias Gly163Arg IPNMDB_86 phenoCommon DSS IPNMDB_86 commonName c.[496delC;499G>C] IPNMDB_86 alias Leu166fs IPNMDB_85 phenoCommon CMT1 / DSS / CH IPNMDB_85 commonName c.499G>A IPNMDB_85 alias Gly167Arg IPNMDB_426 phenoCommon DSS IPNMDB_426 commonName c.506delT IPNMDB_426 alias Val169fs IPNMDB_88 phenoCommon DSS IPNMDB_88 commonName c.522_525delGCTT IPNMDB_88 alias Leu174fs IPNMDB_89 phenoCommon CMT1 IPNMDB_89 commonName c.543C>G IPNMDB_89 alias Tyr181X IPNMDB_922 phenoCommon CH IPNMDB_922 commonName c.549_550insG IPNMDB_922 alias Leu184fs IPNMDB_369 phenoCommon CH + cranial nerve dysfunction + respiratory failure + hypertrophic cardiomyopathy IPNMDB_369 commonName c.550_552delCTAinsG IPNMDB_369 alias Leu184fs IPNMDB_90 phenoCommon CMT1 IPNMDB_90 commonName c.554delG IPNMDB_90 alias Arg185fs IPNMDB_87 phenoCommon DSS IPNMDB_87 commonName c.563_564insAGGC IPNMDB_87 alias Ala188fs IPNMDB_699 phenoCommon CMT1 IPNMDB_699 commonName c.570delG IPNMDB_699 alias Leu190fs IPNMDB_848 phenoCommon CMT1 IPNMDB_848 commonName c.584+2T>G IPNMDB_848 alias 5'-splice site IPNMDB_98 phenoCommon - (polymorphism) IPNMDB_98 commonName c.600G>A IPNMDB_98 alias Gly200Gly IPNMDB_91 phenoCommon CMT1 IPNMDB_91 commonName c.614_615insGGGAAATTGCACAAGCC IPNMDB_91 alias Pro205fs IPNMDB_430 phenoCommon CMT1 IPNMDB_430 commonName c.616G>T IPNMDB_430 alias Gly206X IPNMDB_557 phenoCommon -(polymorphism IPNMDB_557 commonName c.637G>C IPNMDB_557 alias Gly213Arg IPNMDB_92 phenoCommon CH IPNMDB_92 commonName c.643C>T IPNMDB_92 alias Gln215X IPNMDB_684 phenoCommon CMT1 IPNMDB_684 commonName c.645+1G>T IPNMDB_684 alias 5'-splice site IPNMDB_93 phenoCommon DSS IPNMDB_93 commonName c.662_663insGC IPNMDB_93 alias Ala221fs IPNMDB_94 phenoCommon CMT1 IPNMDB_94 commonName c.676_677insCA IPNMDB_94 alias Ser226fs IPNMDB_99 phenoCommon - (polymorphism) IPNMDB_99 commonName c.684C>T IPNMDB_99 alias Ser228Ser IPNMDB_95 phenoCommon CMT1-severe IPNMDB_95 commonName c.699_702delTGAG IPNMDB_95 alias Ser233fs IPNMDB_576 phenoCommon CMT1/CMT2 IPNMDB_576 commonName c.706_708delAAG IPNMDB_576 alias Lys236del IPNMDB_724 phenoCommon CMT2 IPNMDB_724 commonName c.706A>G IPNMDB_724 alias Lys236Glu IPNMDB_100 phenoCommon - (polymorphism) IPNMDB_100 commonName c.731G>T IPNMDB_100 alias Arg244Leu IPNMDB_493 phenoCommon - (polymorphism) IPNMDB_493 commonName c.8C>A IPNMDB_493 alias Thr3Lys IPNMDB_498 commonName c.[298G>A]+[?] IPNMDB_498 alias [Ala100Thr]+[?] IPNMDB_502 phenoCommon CMT4B IPNMDB_502 commonName c.308G>A IPNMDB_502 alias [Gly103Glu]+[Gly103Glu] IPNMDB_503 phenoCommon CMT4B IPNMDB_503 commonName c.324delG IPNMDB_503 alias [Thr108fs]+[Thr108fs] IPNMDB_735 phenoCommon CMT4B IPNMDB_735 commonName c.681_682ins446 IPNMDB_735 alias Thr228fs IPNMDB_736 phenoCommon CMT4B IPNMDB_736 commonName c.[841_844delATCA]+[?] IPNMDB_736 alias [Ile281fs]+[?] IPNMDB_634 phenoCommon CMT4B IPNMDB_634 commonName c.847C>T IPNMDB_634 alias [Arg283Trp]+[Arg283Trp] IPNMDB_495 phenoCommon - (polymorphism) IPNMDB_495 commonName c.1131T>C IPNMDB_495 alias Thr377Thr IPNMDB_496 phenoCommon - (polymorphism) IPNMDB_496 commonName c.1233G>A IPNMDB_496 alias Thr411Thr IPNMDB_501 phenoCommon - (polymorphism) IPNMDB_501 commonName c.1233G>T IPNMDB_501 alias Thr411Thr IPNMDB_432 phenoCommon CMT4B IPNMDB_432 commonName c.1276C>T IPNMDB_432 alias [Gln426X]+[Gln426X] IPNMDB_434 phenoCommon CMT4B IPNMDB_434 commonName c.1444C>T IPNMDB_434 alias [Gln482X]+[Arg477X] IPNMDB_497 phenoCommon - (polymorphism) IPNMDB_497 commonName c.1504G>C IPNMDB_497 alias Glu502Gln IPNMDB_499 phenoCommon CH IPNMDB_499 commonName c.[1634A>G]+[?] IPNMDB_499 alias [Asn545Ser]+[?] IPNMDB_779 phenoCommon CMT4B IPNMDB_779 commonName c.1749G>A IPNMDB_779 alias Trp583X IPNMDB_500 phenoCommon CH IPNMDB_500 commonName c.[1805C>G]+[?] IPNMDB_500 alias [Ala602Gly]+[?] IPNMDB_436 phenoCommon HMSN-L IPNMDB_436 commonName c.442C>T IPNMDB_436 alias [Arg148X]+[Arg148X] IPNMDB_33 phenoCommon HMSN-L IPNMDB_33 commonName c.538-1G>A IPNMDB_33 alias [3'-splice site]+[3'-splice site] IPNMDB_594 phenoCommon unspecified CMT IPNMDB_594 commonName c.[19G>A]+[23C>G] IPNMDB_594 alias [Glu7Lys]+[Pro8Arg] IPNMDB_520 phenoCommon CMT2 IPNMDB_520 commonName c.[22C>A;23C>G] IPNMDB_520 alias Pro8Arg IPNMDB_597 phenoCommon CMT1 IPNMDB_597 commonName c.23C>A IPNMDB_597 alias Pro8Gln IPNMDB_595 phenoCommon CMT1 or CMT1/2 IPNMDB_595 commonName c.23C>G IPNMDB_595 alias Pro8Arg IPNMDB_596 phenoCommon CMT1 IPNMDB_596 commonName c.23C>T IPNMDB_596 alias Pro8Leu IPNMDB_863 phenoCommon CMT1 IPNMDB_863 commonName c.48_60dupGCGCTACGTGGAG IPNMDB_863 alias Thr21fs IPNMDB_586 phenoCommon CMT1 IPNMDB_586 commonName c.64C>A IPNMDB_586 alias Pro22Thr IPNMDB_583 phenoCommon CMT1/2 IPNMDB_583 commonName c.64C>T IPNMDB_583 alias Pro22Ser IPNMDB_602 phenoCommon - (polymorphism) IPNMDB_602 commonName c.192G>A IPNMDB_602 alias Leu64Leu IPNMDB_591 phenoCommon - (polymorphism) IPNMDB_591 commonName c.227T>C IPNMDB_591 alias Val76Ala IPNMDB_598 phenoCommon CMT1 IPNMDB_598 commonName c.268G>A IPNMDB_598 alias Glu90Lys IPNMDB_592 phenoCommon - (polymorphism) IPNMDB_592 commonName c.279G>A IPNMDB_592 alias Gln93Gln IPNMDB_913 phenoCommon CMT1/2 IPNMDB_913 commonName c.281T>C IPNMDB_913 alias Leu94Pro IPNMDB_588 phenoCommon CMT1 IPNMDB_588 commonName c.293A>G IPNMDB_588 alias Asn98Ser IPNMDB_603 phenoCommon - (polymorphism) IPNMDB_603 commonName c.423G>A IPNMDB_603 alias Gln141Gln IPNMDB_589 phenoCommon unspecified CMT IPNMDB_589 commonName c.446C>T IPNMDB_589 alias Ala149Val IPNMDB_816 phenoCommon - (polymorphism) IPNMDB_816 commonName c.639C>G IPNMDB_816 alias Ile213Met IPNMDB_604 phenoCommon - (polymorphism) IPNMDB_604 commonName c.667C>T IPNMDB_604 alias Leu223Leu IPNMDB_605 phenoCommon - (polymorphism) IPNMDB_605 commonName c.720C>T IPNMDB_605 alias Tyr240Tyr IPNMDB_437 phenoCommon CMT2 IPNMDB_437 commonName c.995A>C IPNMDB_437 alias Gln332Pro IPNMDB_728 phenoCommon CMT2 IPNMDB_728 commonName c.998T>C IPNMDB_728 alias Leu333Pro IPNMDB_417 phenoCommon CMT1 / CMT2 IPNMDB_417 commonName c.1186G>A IPNMDB_417 alias Glu396Lys IPNMDB_606 phenoCommon - (polymorphism) IPNMDB_606 commonName c.1212C>T IPNMDB_606 alias Ser404Ser IPNMDB_607 phenoCommon - (polymorphism) IPNMDB_607 commonName c.1402G>A IPNMDB_607 alias Asp468Asn IPNMDB_608 phenoCommon - (polymorphism) IPNMDB_608 commonName c.1458C>T IPNMDB_608 alias Ala486Ala IPNMDB_593 phenoCommon - (polymorphism) IPNMDB_593 commonName c.1492G>A IPNMDB_593 alias Ala498Thr IPNMDB_748 phenoCommon -(polymorphism) IPNMDB_748 commonName c.1573_1574insG IPNMDB_748 alias Glu525fs IPNMDB_600 phenoCommon CMT1 / polymorphism IPNMDB_600 commonName c.1579_1581delGAG IPNMDB_600 alias Glu527del IPNMDB_396 phenoCommon HSAN V IPNMDB_396 commonName c.661C>T IPNMDB_396 alias [Arg221Trp]+[Arg221Trp] IPNMDB_442 phenoCommon CIPA or HSN IV (H406Y + G613V are polymorphisms) IPNMDB_442 commonName c.[25C>T;1810C>T;1838 G>T]+[25C>T; 1810C>T; 1838 G>T] IPNMDB_442 alias [Gln9X;His604Tyr.Gly613Val]+[Gln9X;His604Tyr.Gly613Val] IPNMDB_449 phenoCommon CIPA or HSN IV IPNMDB_449 commonName c.200delA IPNMDB_449 alias [Asn67fs]+[Asn67fs] IPNMDB_957 phenoCommon HSN IV IPNMDB_957 commonName c.207_208delTG IPNMDB_957 alias [Thr69fs]+[Thr69fs] IPNMDB_443 phenoCommon CIPA or HSN IV (R85S is a polymorphism) IPNMDB_443 commonName c.253C>A; 429-1G>C IPNMDB_443 alias [Arg85Ser; 3'-splice site]+[Arg85Ser; 3'-splice site] IPNMDB_454 phenoCommon CIPA or HSN IV IPNMDB_454 commonName c.278T>C IPNMDB_454 alias Leu93Pro IPNMDB_956 phenoCommon HSN IV IPNMDB_956 commonName c.[287+2_3insT]+[2155G>A] IPNMDB_956 alias [5'-splice site]+[Glu719Lys] IPNMDB_958 phenoCommon HSN IV IPNMDB_958 commonName c.354-359+3delTCGCCTGTG IPNMDB_806 phenoCommon CIPA or HSN IV IPNMDB_806 commonName c.359+5G>T IPNMDB_806 alias 5'-splice site (skipping exon 3 and skipping exons 2+3) IPNMDB_455 phenoCommon CIPA or HSN IV IPNMDB_455 commonName c.391_392delTC IPNMDB_455 alias [Ser131fs]+[Ser131fs] IPNMDB_456 phenoCommon CIPA or HSN IV IPNMDB_456 commonName c.490G>T IPNMDB_456 alias Glu164X IPNMDB_691 phenoCommon CIPA or HSN IV IPNMDB_691 commonName c.526C>T IPNMDB_691 alias [Gln176X]+[Gln176X] IPNMDB_805 phenoCommon CIPA or HSN IV IPNMDB_805 commonName c.543delG IPNMDB_805 alias Gly181fs IPNMDB_541 phenoCommon CIPA or HSN IV (H604Y + G613V are polymorphisms) IPNMDB_541 commonName c.[574+1G>A]+[1810C>T;1838G>T;1843G>T;1849G>T] IPNMDB_541 alias [5'-splice site]+[His604Tyr;Gly613Val;Glu615X;Val617Leu] IPNMDB_964 phenoCommon HSN IV IPNMDB_964 commonName c.496G>T IPNMDB_964 alias [Gly166X]+[Gly166X] IPNMDB_453 phenoCommon CIPA or HSN IV IPNMDB_453 commonName c.[638T>C]+[924_930delGCCGGCA] IPNMDB_453 alias [Leu213Pro]+[Gln308fs] IPNMDB_700 phenoCommon CIPA or HSN IV + tooth loss and palmar hyperkeratosis IPNMDB_700 commonName c.[638T>C]+[1556delG] IPNMDB_700 alias [Leu213Pro]+[Gly519fs IPNMDB_697 phenoCommon HS(A)N IPNMDB_697 commonName c.[717+1G>C]+[2144T>C] IPNMDB_697 alias [5'-splice site]+[Val715Ala] IPNMDB_451 phenoCommon CIPA or HSN IV IPNMDB_451 commonName c.850+1G>A IPNMDB_451 alias [5'-splice site]+[5'-splice site] IPNMDB_962 phenoCommon HSN IV IPNMDB_962 commonName c.722_723insC IPNMDB_962 alias [Ser241fs]+[Ser241fs] IPNMDB_457 phenoCommon CIPA or HSN IV IPNMDB_457 commonName c.851-33T>A IPNMDB_535 phenoCommon HSAN V IPNMDB_535 commonName c.1076A>G IPNMDB_535 alias [Tyr359Cys]+[Tyr359Cys] IPNMDB_458 phenoCommon CIPA or HSN IV IPNMDB_458 commonName c.1077C>A IPNMDB_458 alias Tyr359X IPNMDB_695 phenoCommon CIPA or HSN IV IPNMDB_695 commonName c.1196-1G>A IPNMDB_695 alias [3'-splice site]+[3'-splice site] IPNMDB_955 phenoCommon HSN IV IPNMDB_955 commonName c.[1218delC]+[851-33T>A] IPNMDB_693 phenoCommon CIPA or HSN IV IPNMDB_693 commonName c.1522_1523delCG IPNMDB_693 alias [Arg508fs]+[Arg508fs] IPNMDB_692 phenoCommon CIPA or HSN IV IPNMDB_692 commonName c.1531_1532insGGACATCG IPNMDB_692 alias [Val511fs]+[Val511fs] IPNMDB_835 phenoCommon CIPA or HSN IV IPNMDB_835 commonName c.[1555G>C]+[2303C>T] IPNMDB_835 alias [Gly519Arg]+[Pro768Leu] IPNMDB_459 phenoCommon CIPA or HSN IV IPNMDB_459 commonName c.1564G>A IPNMDB_459 alias Gly522Arg IPNMDB_966 phenoCommon HSN IV IPNMDB_966 commonName c.1633-1G>T IPNMDB_966 alias [3'-splice site]+[3'-splice site] IPNMDB_444 phenoCommon CIPA or HSN IV IPNMDB_444 commonName c.1660delC IPNMDB_444 alias [Arg554fs]+[Arg554fs] IPNMDB_960 phenoCommon HSN IV IPNMDB_960 commonName c.[1672C>T]+[2150T>G] IPNMDB_960 alias [Gln558X]+[Leu717Arg] IPNMDB_959 phenoCommon HSN IV IPNMDB_959 commonName c.1715T>G IPNMDB_959 alias [Ile572Ser]+[Ile572Ser] IPNMDB_445 phenoCommon CIPA or HSN IV IPNMDB_445 commonName c.1729G>C IPNMDB_445 alias [Gly577Arg]+[Gly577Arg] IPNMDB_460 phenoCommon CIPA or HSN IV IPNMDB_460 commonName c.1754delT IPNMDB_460 alias Leu585fs IPNMDB_461 phenoCommon CIPA or HSN IV IPNMDB_461 commonName c.1804C>T IPNMDB_461 alias Arg602X IPNMDB_538 phenoCommon - (polymorphism) IPNMDB_538 commonName c.1838G>T IPNMDB_538 alias [Gly613Val]+[Gly613Val] IPNMDB_1 phenoCommon CIPA or HSN IV IPNMDB_1 commonName c.1860_1861insT IPNMDB_1 alias [Pro621fs]+[Pro621fs] IPNMDB_804 phenoCommon CIPA or HSN IV IPNMDB_804 commonName c.1877_1878insA IPNMDB_804 alias Gln626fs IPNMDB_536 phenoCommon - (polymorphism) IPNMDB_536 commonName c.1887C>T IPNMDB_536 alias Ala629Ala IPNMDB_450 phenoCommon CIPA or HSN IV IPNMDB_450 commonName c.1945C>T IPNMDB_450 alias [Arg649Trp]+[Arg649Trp] IPNMDB_462 phenoCommon CIPA or HSN IV IPNMDB_462 commonName c.1960C>T IPNMDB_462 alias Arg654Cys IPNMDB_463 phenoCommon CIPA or HSN IV IPNMDB_463 commonName c.2002G>T IPNMDB_463 alias Asp674Tyr IPNMDB_446 phenoCommon CIPA or HSN IV IPNMDB_446 commonName c.2046+3A>C IPNMDB_446 alias [5'-splice site]+[5'-splice site] IPNMDB_540 phenoCommon - (polymorphism) IPNMDB_540 commonName c.2052A>G IPNMDB_540 alias [Gly684Gly]+[Gly684Gly] IPNMDB_539 phenoCommon CIPA or HSN IV IPNMDB_539 commonName c.2084C>T IPNMDB_539 alias [Pro695Leu]+[Pro695Leu] IPNMDB_452 phenoCommon CIPA or HSN IV IPNMDB_452 commonName c.2140G>A IPNMDB_452 alias [Gly714Ser]+[Gly714Ser] IPNMDB_694 phenoCommon CIPA or HSN IV IPNMDB_694 commonName c.[2271C>G]+[2281C>T] IPNMDB_694 alias [Tyr757X]+[Arg761Trp] IPNMDB_696 phenoCommon CIPA or HSN IV IPNMDB_696 commonName c.2281C>T IPNMDB_696 alias [Arg761Trp]+[Arg761Trp] IPNMDB_965 phenoCommon HSN IV IPNMDB_965 commonName c.2308C>T IPNMDB_965 alias [Gln770X]+[Gln770X] IPNMDB_464 phenoCommon CIPA or HSN IV IPNMDB_464 commonName c.2327_2328insT IPNMDB_464 alias Asp776fs IPNMDB_447 phenoCommon CIPA or HSN IV IPNMDB_447 commonName c.2339G>C IPNMDB_447 alias [Arg780Pro]+[Arg780Pro] IPNMDB_931 phenoCommon Autosomal recessive lower motor neuron disease with childhood onset IPNMDB_931 commonName c.1940T>C IPNMDB_931 alias [Phe647Ser]+[Phe647Ser] IPNMDB_614 phenoCommon - (polymorphism) IPNMDB_614 commonName c.-141C>G IPNMDB_619 phenoCommon - (polymorphism) IPNMDB_619 commonName c.-134G>A IPNMDB_620 phenoCommon - (polymorphism) IPNMDB_620 commonName c.-40G>A IPNMDB_914 phenoCommon HNPP IPNMDB_914 commonName c.11delT IPNMDB_914 alias Leu4fs IPNMDB_2 phenoCommon HNPP IPNMDB_2 commonName c.19_20delAG IPNMDB_2 alias Leu7fs IPNMDB_3 phenoCommon DSS IPNMDB_3 commonName c.36C>A IPNMDB_3 alias His12Gln IPNMDB_4 phenoCommon CMT1 IPNMDB_4 commonName c.47T>C IPNMDB_4 alias Leu16Pro IPNMDB_5 phenoCommon DSS IPNMDB_5 commonName c.56T>C IPNMDB_5 alias Leu19Pro IPNMDB_751 phenoCommon CMT1 / HNPP IPNMDB_751 commonName c.65C>T IPNMDB_751 alias Ser22Phe IPNMDB_743 phenoCommon CMT1 + deafness IPNMDB_743 commonName c.68C>G IPNMDB_743 alias Thr23Arg IPNMDB_348 phenoCommon CMT1 IPNMDB_348 commonName c.73_78delGTCAGC IPNMDB_348 alias Val25_Ser26del IPNMDB_6 phenoCommon HNPP IPNMDB_6 commonName c.78+1G>T IPNMDB_6 alias 5'-splice site IPNMDB_374 phenoCommon CMT1 + deafness IPNMDB_374 commonName c.82T>C IPNMDB_374 alias Trp28Arg IPNMDB_34 phenoCommon - (polymorphism) IPNMDB_34 commonName c.87C>T IPNMDB_34 alias Ile29Ile IPNMDB_7 phenoCommon HNPP IPNMDB_7 commonName c.88G>A IPNMDB_7 alias Val30Met IPNMDB_337 phenoCommon CMT1 IPNMDB_337 commonName c.110A>T IPNMDB_337 alias Asp37Val IPNMDB_853 phenoCommon HNPP IPNMDB_853 commonName c.178+1G>C IPNMDB_853 alias 5'-splice site IPNMDB_504 phenoCommon HNPP IPNMDB_504 commonName c.179-1G>C IPNMDB_504 alias 3'-splice site IPNMDB_555 phenoCommon CMT1 IPNMDB_555 commonName c.179-2A>G IPNMDB_555 alias 3'-splice site IPNMDB_8 phenoCommon HNPP IPNMDB_8 commonName c.183G>A IPNMDB_8 alias Trp61X IPNMDB_615 phenoCommon CMT1 + hearing impairment IPNMDB_615 commonName c.193G>T IPNMDB_615 alias Val65Phe IPNMDB_364 phenoCommon HNPP IPNMDB_364 commonName c.199G>A IPNMDB_364 alias Ala67Thr IPNMDB_9 phenoCommon CMT1 + deafness IPNMDB_9 commonName c.199G>C IPNMDB_9 alias Ala67Pro IPNMDB_10 phenoCommon DSS IPNMDB_10 commonName c.206T>A IPNMDB_10 alias Met69Lys IPNMDB_375 phenoCommon CMT1 / DSS (+vestibular loss + hearing loss) IPNMDB_375 commonName c.212T>C IPNMDB_375 alias Leu71Pro IPNMDB_13 phenoCommon DSS IPNMDB_13 commonName c.214T>C IPNMDB_13 alias Ser72Pro IPNMDB_12 phenoCommon DSS IPNMDB_12 commonName c.215C>G IPNMDB_12 alias Ser72Trp IPNMDB_11 phenoCommon CMT1 / DSS (+ deafness) / CH IPNMDB_11 commonName c.215C>T IPNMDB_11 alias Ser72Leu IPNMDB_14 phenoCommon DSS (+ deafness) IPNMDB_14 commonName c.227G>T IPNMDB_14 alias Ser76Ile IPNMDB_16 phenoCommon DSS IPNMDB_16 commonName c.235T>C IPNMDB_16 alias Ser79Pro IPNMDB_15 phenoCommon CMT1 IPNMDB_15 commonName c.236C>G IPNMDB_15 alias Ser79Cys IPNMDB_17 phenoCommon DSS IPNMDB_17 commonName c.238_239delCT IPNMDB_17 alias Leu80fs IPNMDB_18 phenoCommon DSS IPNMDB_18 commonName c.239T>C IPNMDB_18 alias Leu80Pro IPNMDB_19 phenoCommon DSS (with multiple cranial involvement) IPNMDB_19 commonName c.251_253delTCT IPNMDB_19 alias Phe84del IPNMDB_621 phenoCommon CMT1 IPNMDB_621 commonName c.256C>T IPNMDB_621 alias Gln86X IPNMDB_20 phenoCommon CMT1 IPNMDB_20 commonName c.277G>C IPNMDB_20 alias Gly93Arg IPNMDB_22 phenoCommon CMT1 / DSS IPNMDB_22 commonName c.281delG IPNMDB_22 alias Gly94fs IPNMDB_21 phenoCommon HNPP IPNMDB_21 commonName c.281_282insG IPNMDB_21 alias Gly94fs IPNMDB_23 phenoCommon DSS IPNMDB_23 commonName c.298G>A IPNMDB_23 alias Gly100Arg IPNMDB_24 phenoCommon DSS IPNMDB_24 commonName c.299G>A IPNMDB_24 alias Gly100Glu IPNMDB_622 phenoCommon CMT1 IPNMDB_622 commonName c.312delT IPNMDB_622 alias Ile104fs IPNMDB_25 phenoCommon CMT1 IPNMDB_25 commonName c.314T>G IPNMDB_25 alias Leu105Arg IPNMDB_721 phenoCommon CMT1 IPNMDB_721 commonName c.318delT IPNMDB_721 alias Ala106fs IPNMDB_26 phenoCommon CMT1 IPNMDB_26 commonName c.319+1G>A IPNMDB_26 alias 5'-splice site IPNMDB_27 phenoCommon CMT1 IPNMDB_27 commonName c.320G>T IPNMDB_27 alias Gly107Val IPNMDB_336 phenoCommon CH IPNMDB_336 commonName c.325T>C IPNMDB_336 alias Cys109Arg IPNMDB_703 phenoCommon CMT1 IPNMDB_703 commonName c.327C>A IPNMDB_703 alias Cys109X IPNMDB_35 phenoCommon - (polymorphism) IPNMDB_35 commonName c.327C>T IPNMDB_35 alias Cys109Cys IPNMDB_635 phenoCommon CMT1 + deafness IPNMDB_635 commonName c.343_354delGCCATCTACACG IPNMDB_635 alias Ala115_Thr118del IPNMDB_28 phenoCommon CMT1 (hemizygous) / polymorphism (heterozygous) IPNMDB_28 commonName c.353C>T IPNMDB_28 alias Thr118Met IPNMDB_854 phenoCommon CMT2 IPNMDB_854 commonName c.353C>T IPNMDB_854 alias [Thr118Met]+[Thr118Met] IPNMDB_508 phenoCommon HNPP IPNMDB_508 commonName c.364_365delCC IPNMDB_508 alias Pro122fs IPNMDB_419 phenoCommon HNPP IPNMDB_419 commonName c.372G>A IPNMDB_419 alias Trp124X IPNMDB_37 phenoCommon - (polymorphism) IPNMDB_37 commonName c.409A>G IPNMDB_37 alias Ile137Val IPNMDB_778 phenoCommon HNPP IPNMDB_778 commonName c.433_434insC IPNMDB_778 alias Leu145fs IPNMDB_420 phenoCommon HNPP IPNMDB_420 commonName c.434delT IPNMDB_420 alias Leu145fs IPNMDB_29 phenoCommon CMT1 IPNMDB_29 commonName c.440T>G IPNMDB_29 alias Leu147Arg IPNMDB_428 phenoCommon DSS IPNMDB_428 commonName c.447C>A IPNMDB_428 alias Ser149Arg IPNMDB_31 phenoCommon DSS IPNMDB_31 commonName c.448G>T IPNMDB_31 alias Gly150Cys IPNMDB_30 phenoCommon DSS IPNMDB_30 commonName c.449G>A IPNMDB_30 alias Gly150Asp IPNMDB_623 phenoCommon - (polymorphism) IPNMDB_623 commonName c.468G>A IPNMDB_623 alias Leu156Leu IPNMDB_32 phenoCommon DSS IPNMDB_32 commonName c.469C>T IPNMDB_32 alias [Arg157Trp]+[Arg157Trp] IPNMDB_625 phenoCommon - (polymorphism) IPNMDB_625 commonName c.499T>A IPNMDB_937 phenoCommon CMTX5 IPNMDB_937 commonName c.129A>C IPNMDB_937 alias Glu43Asp IPNMDB_936 phenoCommon CMTX5 IPNMDB_936 commonName c.344T>C IPNMDB_936 alias Met115Thr IPNMDB_878 phenoCommon CMT1 IPNMDB_878 commonName c.[176T>C]+[2145T>A] IPNMDB_878 alias [Leu59Pro]+[Cys715X] IPNMDB_571 phenoCommon DSS IPNMDB_571 commonName c.247delC IPNMDB_571 alias [Arg82fs]+[Arg82fs] IPNMDB_529 phenoCommon - (polymorphism) IPNMDB_529 commonName c.306C>T IPNMDB_529 alias Thr102Thr IPNMDB_855 phenoCommon CMT1 IPNMDB_855 commonName c.[385_394dupATCCAGAGTC]+[3208C>T] IPNMDB_855 alias [Leu132fs]+[Arg1070X] IPNMDB_515 phenoCommon CMT4F IPNMDB_515 commonName c.586C>T IPNMDB_515 alias [Arg196X]+[Arg196X] IPNMDB_517 phenoCommon DSS IPNMDB_517 commonName c.[1102C>T]+[2289delT] IPNMDB_517 alias [Arg368X]+[Val763fs] IPNMDB_811 phenoCommon CMT4F IPNMDB_811 commonName c.1194_1197delTTCC IPNMDB_811 alias Ser399fs IPNMDB_522 phenoCommon - (polymorphism) IPNMDB_522 commonName c.1216G>A IPNMDB_522 alias Ala406Thr IPNMDB_524 phenoCommon - (polymorphism) IPNMDB_524 commonName c.1483G>C IPNMDB_524 alias Glu495Gln IPNMDB_530 phenoCommon - (polymorphism) IPNMDB_530 commonName c.1491C>G IPNMDB_530 alias Pro497Pro IPNMDB_570 phenoCommon CMT1 IPNMDB_570 commonName c.2145T>A IPNMDB_570 alias [Cys715X]+[Cys715X] IPNMDB_528 phenoCommon - (polymorphism) IPNMDB_528 commonName c.2645T>G IPNMDB_528 alias Val882Ala IPNMDB_531 phenoCommon - (polymorphism) IPNMDB_531 commonName c.2655T>C IPNMDB_531 alias Pro885Pro IPNMDB_527 phenoCommon - (polymorphism) IPNMDB_527 commonName c.2763A>G IPNMDB_527 alias Ile921Met IPNMDB_518 phenoCommon DSS IPNMDB_518 commonName c.2787delC IPNMDB_518 alias [Ser929fs]+[Ser929fs] IPNMDB_516 phenoCommon DSS IPNMDB_516 commonName c.[2787delC]+[2857C>T] IPNMDB_516 alias [Ser929fs]+[Arg953X] IPNMDB_701 phenoCommon CMT1 IPNMDB_701 commonName c.3208C>T IPNMDB_701 alias [Arg1070X]+[Arg1070X] IPNMDB_526 phenoCommon - (polymorphism) IPNMDB_526 commonName c.3248C>G IPNMDB_526 alias Pro1083Arg IPNMDB_525 phenoCommon - (polymorphism) IPNMDB_525 commonName c.3394G>A IPNMDB_525 alias Gly1132Arg IPNMDB_521 phenoCommon - (polymorphism) IPNMDB_521 commonName c.3775G>A IPNMDB_521 alias Glu1259Lys IPNMDB_523 phenoCommon - (polymorphism) IPNMDB_523 commonName c.4075_4077delGAG IPNMDB_523 alias Glu1359del IPNMDB_636 phenoCommon CMT2B IPNMDB_636 commonName c.385C>T IPNMDB_636 alias Leu129Phe IPNMDB_852 phenoCommon CMT2B IPNMDB_852 commonName c.471G>C IPNMDB_852 alias Lys157Asn IPNMDB_733 phenoCommon CMT2B IPNMDB_733 commonName c.482A>C IPNMDB_733 alias Asn161Thr IPNMDB_637 phenoCommon CMT2B IPNMDB_637 commonName c.484G>A IPNMDB_637 alias Val162Met IPNMDB_698 phenoCommon CMT4B2 and juvenile onset glaucoma IPNMDB_698 commonName c.1459C>T IPNMDB_698 alias [Arg487X]+[Arg487X] IPNMDB_653 phenoCommon CMT4B2 and early onset glaucoma IPNMDB_653 commonName c.2875C>T IPNMDB_653 alias [Gln956X]+[Gln956X] IPNMDB_654 phenoCommon CMT4B2 and early onset glaucoma IPNMDB_654 commonName c.3586C>T IPNMDB_654 alias [Arg1196X]+[Arg1196X] IPNMDB_749 phenoCommon CMT4B2 IPNMDB_749 commonName c.4443+1G>C IPNMDB_749 alias [5'-splice site]+[5'-splice site] IPNMDB_782 phenoCommon HNA IPNMDB_782 commonName c.262C>T IPNMDB_782 alias Arg88Trp IPNMDB_783 phenoCommon HNA + dysmorphic features IPNMDB_783 commonName c.278C>T IPNMDB_783 alias Ser93Phe IPNMDB_96 phenoCommon CMT4 IPNMDB_96 commonName c.26delG IPNMDB_96 alias [Arg9fs]+[Arg9fs] IPNMDB_866 phenoCommon CMT4 IPNMDB_866 commonName c.[217_227delGCTGCTCGGAGinsCCAGTAA]+[2191delG] IPNMDB_866 alias [Ala73fs]+[Glu731fs] IPNMDB_101 phenoCommon CMT4 IPNMDB_101 commonName c.530-2A>G IPNMDB_101 alias [5'-splice site]+[5'-splice site] IPNMDB_867 phenoCommon CMT4 IPNMDB_867 commonName c.[920G>A]+[3326G>C] IPNMDB_867 alias [Trp307X]+[Arg1109Pro] IPNMDB_868 phenoCommon CMT4 IPNMDB_868 commonName c.1171-1G>A IPNMDB_868 alias [3'-splice site]+[3'-splice site] IPNMDB_278 phenoCommon CMT4 IPNMDB_278 commonName c.1586G>A IPNMDB_278 alias [Arg529Gln]+[Arg529Gln] IPNMDB_280 phenoCommon CMT4 IPNMDB_280 commonName c.1747_1748delAG IPNMDB_280 alias [Arg583fs]+[Arg583fs] IPNMDB_285 phenoCommon CMT4 IPNMDB_285 commonName c.1969G>A IPNMDB_285 alias [Glu657Lys]+[Glu657Lys] IPNMDB_869 phenoCommon CMT4 IPNMDB_869 commonName c.1972C>T IPNMDB_869 alias [Arg658Cys]+[Arg658Cys] IPNMDB_355 phenoCommon CMT4 IPNMDB_355 commonName c.[1972C>T]+[2860C>T] IPNMDB_355 alias [Arg658Cys]+[Arg954X] IPNMDB_872 phenoCommon CMT4 IPNMDB_872 commonName c.[1982T>C]+[2680C>T] IPNMDB_872 alias [Leu662Pro]+[Arg954X] IPNMDB_356 phenoCommon CMT4 IPNMDB_356 commonName c.2491_2492delAG IPNMDB_356 alias [Ser831fs]+[Ser831fs] IPNMDB_871 phenoCommon CMT4 IPNMDB_871 commonName c.[2642A>T]+[2860C>T] IPNMDB_871 alias [Asn881Ser]+[Arg954X] IPNMDB_870 phenoCommon CMT4 IPNMDB_870 commonName c.2710C>T IPNMDB_870 alias [Arg904X]+[Arg904X] IPNMDB_357 phenoCommon CMT4 IPNMDB_357 commonName c.[2829T>G]+[2860C>T] IPNMDB_357 alias [Tyr943X]+[Arg954X] IPNMDB_865 phenoCommon CMT4 IPNMDB_865 commonName c.2860C>T IPNMDB_865 alias [Arg954X]+[Arg954X] IPNMDB_358 phenoCommon CMT4 IPNMDB_358 commonName c.[2860C>T]+[3601C>T] IPNMDB_358 alias [Arg954X]+[Gln1201X] IPNMDB_830 phenoCommon CMT4 IPNMDB_830 commonName c.3325C>T IPNMDB_830 alias [Arg1109X]+[Arg1109X] IPNMDB_359 phenoCommon CMT4 IPNMDB_359 commonName c.3341delC IPNMDB_359 alias [Pro1114fs]+[Pro1114fs] IPNMDB_647 phenoCommon Peripheral neuropathy with agenesis of the corpus callosum or Andermann syndrome IPNMDB_647 commonName c.2023C>T IPNMDB_647 alias [Arg675X]+[Arg675X] IPNMDB_644 phenoCommon Peripheral neuropathy with agenesis of the corpus callosum or Andermann syndrome IPNMDB_644 commonName c.2436delG IPNMDB_644 alias [Thr813fs]+[Thr813fs] IPNMDB_645 phenoCommon Peripheral neuropathy with agenesis of the corpus callosum or Andermann syndrome IPNMDB_645 commonName c.[2436delG]+[1584_1585delCTinsG] IPNMDB_645 alias [Thr813fs]+[Phe529fs] IPNMDB_921 phenoCommon Peripheral neuropathy with agenesis of the corpus callosum or Andermann syndrome IPNMDB_921 commonName c.2995_3004delCAGATGCTCC IPNMDB_921 alias [Gln999fs]+[Gln999fs] IPNMDB_646 phenoCommon Peripheral neuropathy with agenesis of the corpus callosum or Andermann syndrome IPNMDB_646 commonName c.3031C>T IPNMDB_646 alias [Arg1011X]+[Arg1011X] IPNMDB_659 phenoCommon CH + Waardenburg-Hirschsprung IPNMDB_659 commonName c.748C>T IPNMDB_659 alias Gln250X IPNMDB_534 phenoCommon Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness IPNMDB_534 commonName c.795delG IPNMDB_534 alias Glu265fs IPNMDB_519 phenoCommon CMT1 (+ Pelizaeus-Merzbacher disease & Waardenburg-Hirschsprung) IPNMDB_519 commonName c.1400_1411delAAAGGGGGCCCT IPNMDB_519 alias X467del IPNMDB_942 phenoCommon HSN I IPNMDB_942 commonName c.397T>C IPNMDB_942 alias Cys133Arg IPNMDB_509 phenoCommon HSN I IPNMDB_509 commonName c.398G>A IPNMDB_509 alias Cys133Tyr IPNMDB_510 phenoCommon HSN I IPNMDB_510 commonName c.399T>G IPNMDB_510 alias Cys133Trp IPNMDB_511 phenoCommon HSN I IPNMDB_511 commonName c.431T>A IPNMDB_511 alias Val144Asp IPNMDB_838 phenoCommon - (polymorphism) IPNMDB_838 commonName c.452G>T IPNMDB_838 alias Arg151Leu IPNMDB_940 phenoCommon HSN I IPNMDB_940 commonName c.992C>T IPNMDB_940 alias Ser331Phe IPNMDB_675 phenoCommon - (polymorphism) IPNMDB_675 commonName c.1160G>C IPNMDB_675 alias Gly387Ala IPNMDB_944 phenoCommon HSN I IPNMDB_944 commonName c.1075G>A IPNMDB_944 alias Val352Met IPNMDB_943 phenoCommon HSN I IPNMDB_943 commonName c.1145G>T IPNMDB_943 alias Gly382Val IPNMDB_945 phenoCommon HSN I IPNMDB_945 commonName c.1510A>T IPNMDB_945 alias Ile504Phe IPNMDB_801 phenoCommon CMT1/2 IPNMDB_801 commonName c.121G>A IPNMDB_801 alias Gly41Arg IPNMDB_803 phenoCommon CMT1/2 IPNMDB_803 commonName c.458_469delTAAAGCAGGTGG IPNMDB_803 alias Val153_Val156del IPNMDB_802 phenoCommon CMT1/2 IPNMDB_802 commonName c.586G>A IPNMDB_802 alias Glu196Lys RPGR_00105 commonName c.28+1G>A RPGR_00153 commonName c.28+5G>A RPGR_00268 commonName c.29-15A>G RPGR_00088 commonName c.1088_1089insT RPGR_00089 commonName c.1092_1093insT RPGR_00090 commonName c.1100delC RPGR_00289 commonName c.1117A>T RPGR_00026 commonName c.1120G>T RPGR_00290 commonName c.1135G>T RPGR_00210 commonName c.1164G>A RPGR_00211 commonName c.1164G>T RPGR_00291 commonName c.1175delC RPGR_00340 commonName c.1179T>G RPGR_00091 commonName c.1216_1217delCT RPGR_00027 commonName c.1234C>T RPGR_00092 commonName c.1238_1239insAG RPGR_00093 commonName c.1242_1243delGA RPGR_00259 commonName c.1245+2T>C RPGR_00219 commonName c.1245+3A>G RPGR_00272 commonName c.1246-13delC RPGR_00319 commonName c.1246-2A>C RPGR_00094 commonName c.1261_1279del19 RPGR_00212 commonName c.1274G>A RPGR_00213 commonName c.1291A>G RPGR_00214 commonName c.1295A>G RPGR_00028 commonName c.1307G>A RPGR_00029 commonName c.1345C>T RPGR_00215 commonName c.1367A>G RPGR_00095 commonName c.1372_1373delAG RPGR_00096 commonName c.1376_1377delTC RPGR_00338 commonName c.1399C>T RPGR_00097 commonName c.1402_1405delCCAG RPGR_00320 commonName c.1414+2T>A RPGR_00098 commonName c.1477delC RPGR_00277 commonName c.1507-130T>C RPGR_00275 commonName c.1507-101T>A RPGR_00276 commonName c.1507-101T>AA RPGR_00274 commonName c.1507-101_104del4 RPGR_00281 commonName c.1507-97T>C RPGR_00278 commonName c.1507-68T>C RPGR_00099 commonName c.1512_1513delCA RPGR_00321 commonName c.1572+1G>A RPGR_00326 commonName c.1572+11A>G RPGR_00220 commonName c.1573-8A>G RPGR_00337 commonName c.1573-3C>G RPGR_00221 commonName c.1573-2A>G RPGR_00222 commonName c.1573-1G>A RPGR_00216 commonName c.1576-1578delCAA RPGR_00100 commonName c.1582_1585del4 RPGR_00217 commonName c.1598C>T RPGR_00342 commonName c.1628_1629insAACGATGA RPGR_00101 commonName c.1685_1686delAT RPGR_00218 commonName c.1687G>A RPGR_00260 commonName c.1697G>A RPGR_00030 commonName c.1747G>T RPGR_00283 commonName c.2092-137T>A RPGR_00323 commonName c.2149+46C>T RPGR_00324 commonName c.2241+11T>C RPGR_00067 commonName c.33delG RPGR_00068 commonName c.101delA RPGR_00261 commonName c.122C>G RPGR_00001 commonName c.127G>A RPGR_00002 commonName c.128G>A RPGR_00203 commonName c.141T>G RPGR_00204 commonName c.153C>T RPGR_00003 commonName c.154G>T RPGR_00247 commonName c.155-2A>G RPGR_00224 commonName c.155-1G>A RPGR_00004 commonName c.179G>T RPGR_00263 commonName c.194delG RPGR_00262 commonName c.194G>T RPGR_00205 commonName c.223A>G RPGR_00206 commonName c.227G>T RPGR_00070 commonName c.237_238delAT RPGR_00207 commonName c.248-6T>A RPGR_00071 commonName c.274_277dup4 RPGR_00005 commonName c.294C>A RPGR_00006 commonName c.296C>A RPGR_00208 commonName c.310+1G>A RPGR_00209 commonName c.310+1G>C RPGR_00251 commonName c.310+3A>G RPGR_00265 commonName c.323_328del6 RPGR_00266 commonName c.350G>A RPGR_00073 commonName c.356delT RPGR_00103 commonName c.371delC RPGR_00007 commonName c.379A>G RPGR_00008 commonName c.390T>G RPGR_00270 commonName c.408delT RPGR_00009 commonName c.415G>T RPGR_00010 commonName c.455C>T RPGR_00252 commonName c.469+1G>T RPGR_00282 commonName c.482delT RPGR_00074 commonName c.482_483delTT RPGR_00104 commonName c.485_486delTT RPGR_00075 commonName c.486delT RPGR_00011 commonName c.492G>A RPGR_00322 commonName c.494G>T RPGR_00012 commonName c.517G>C RPGR_00013 commonName c.581G>A RPGR_00284 commonName c.583A>G RPGR_00348 commonName c.593G>A RPGR_00014 commonName c.605C>A RPGR_00253 commonName c.619+5G>A RPGR_00254 commonName c.619+9del RPGR_00271 commonName c.619+16A>G RPGR_00269 commonName c.620-41T>C RPGR_00077 commonName c.629_639del11 RPGR_00015 commonName c.644G>T RPGR_00078 commonName c.697_724del28 RPGR_00016 commonName c.703C>T RPGR_00031 commonName c.706C>T RPGR_00032 commonName c.730A>T RPGR_00248 commonName c.732G>A RPGR_00080 commonName c.747delC RPGR_00017 commonName c.748T>C RPGR_00018 commonName c.749G>A RPGR_00079 commonName c.749_750delGT RPGR_00285 commonName c.752_753delTG RPGR_00341 commonName c.764C>T RPGR_00081 commonName c.771_773delTCT RPGR_00255 commonName c.778-1G>A RPGR_00318 commonName c.778+1G>C RPGR_00256 commonName c.778+5G>A RPGR_00349 commonName c.779-5T>G RPGR_00249 commonName c.785C>G RPGR_00082 commonName c.786_787delTG RPGR_00019 commonName c.799G>A RPGR_00286 commonName c.800G>A RPGR_00350 commonName c.812_813delTT RPGR_00287 commonName c.814G>A RPGR_00288 commonName c.817C>T RPGR_00020 commonName c.823G>A RPGR_00083 commonName c.837delT RPGR_00084 commonName c.838_842del5 RPGR_00021 commonName c.865A>G RPGR_00085 commonName c.869delA RPGR_00086 commonName c.886_900del15 RPGR_00087 commonName c.891_892delAA RPGR_00022 commonName c.904T>C RPGR_00023 commonName c.905G>A RPGR_00024 commonName c.934G>A RPGR_00025 commonName c.934G>T RPGR_00257 commonName c.934+1G>A RPGR_00258 commonName c.934+1G>C RPGR_00033 commonName c.958G>A RPGR_00034 commonName c.980G>T RPGR_00035 commonName c.994G>T RPGR_00250 commonName c.1033A>G RPGR_00339 commonName c.1059+2T>C RPGR_00336 commonName c.1059+363G>A RPGR_00036 commonName c.1765G>T RPGR_00102 commonName c.1835_1836insA RPGR_00106 commonName c.1869_1870delAG RPGR_00107 commonName c.1872_1873delGA RPGR_00108 commonName c.1926_1927insA RPGR_00037 commonName c.1928C>G RPGR_00351 commonName c.1933_1934insC RPGR_00109 commonName c.1938_1939insAGAGG RPGR_00110 commonName c.1952_1953insT RPGR_00111 commonName c.2002delC RPGR_00038 commonName c.2007G>A RPGR_00112 commonName c.2049_2128dup80 RPGR_00039 commonName c.2080A>T RPGR_00113 commonName c.2105_2213dup109 RPGR_00114 commonName c.2109_2110insGAAG RPGR_00040 commonName c.2122G>T RPGR_00115 commonName c.2144_2216dup73 RPGR_00041 commonName c.2146G>T RPGR_00345 commonName c.2148_2149ins356 RPGR_00325 commonName c.2153delG RPGR_00116 commonName c.2155_2156insC RPGR_00117 commonName c.2167delA RPGR_00343 commonName c.2171delA RPGR_00042 commonName c.2173C>T RPGR_00043 commonName c.2176G>T RPGR_00118 commonName c.2185delG RPGR_00119 commonName c.2187delG RPGR_00292 commonName c.2189delG RPGR_00044 commonName c.2218G>T RPGR_00330 commonName c.2223G>A RPGR_00120 commonName c.2233_2234delAG RPGR_00121 commonName c.2234_2235delGA RPGR_00122 commonName c.2234_2237delGAGA RPGR_00123 commonName c.2235_2236delAG RPGR_00352 commonName c.2235_2238delAGAA RPGR_00124 commonName c.2236_2237delGA RPGR_00293 commonName c.2241_2242delGG RPGR_00045 commonName c.2245G>T RPGR_00125 commonName c.2252_2255delAGGA RPGR_00126 commonName c.2256_2259delGGGA RPGR_00127 commonName c.2257_2260delGGAG RPGR_00046 commonName c.2260G>T RPGR_00353 commonName c.2268delA RPGR_00128 commonName c.2270_2271delAG RPGR_00047 commonName c.2293G>T RPGR_00294 commonName c.2305G>A RPGR_00295 commonName c.2311delG RPGR_00296 commonName c.2319_2320delAG RPGR_00354 commonName c.2321_2330delAGAGGAAAAA RPGR_00129 commonName c.2323_2324delAG RPGR_00130 commonName c.2340delA RPGR_00131 commonName c.2340_2341delAG RPGR_00329 commonName c.2341G>A RPGR_00132 commonName c.2357_2358delAA RPGR_00133 commonName c.2384delA RPGR_00134 commonName c.2398delG RPGR_00135 commonName c.2400_2401delAA RPGR_00223 commonName c.2401A>G RPGR_00136 commonName c.2403_2404delAG RPGR_00137 commonName c.2403_2406delAGAG RPGR_00138 commonName c.2404_2405delGA RPGR_00139 commonName c.2405_2406delAG RPGR_00140 commonName c.2412_2413delAG RPGR_00141 commonName c.2423_2424delAA RPGR_00142 commonName c.2425_2426delGA RPGR_00143 commonName c.2426_2427delAG RPGR_00048 commonName c.2437G>T RPGR_00144 commonName c.2442_2445delAGAG RPGR_00355 commonName c.2443G>A RPGR_00238 commonName c.2447_2461del15 RPGR_00297 commonName c.2464_2468delGGGAA RPGR_00298 commonName c.2467A>T RPGR_00299 commonName c.2472_2485del14 RPGR_00300 commonName c.2473_2474delGA RPGR_00301 commonName c.2473_2486del14 RPGR_00145 commonName c.2476_2477delAG RPGR_00146 commonName c.2480_2520dup41 RPGR_00049 commonName c.2491G>T RPGR_00147 commonName c.2493_2494delGG RPGR_00302 commonName c.2494G>T RPGR_00148 commonName c.2495_2516del22 RPGR_00149 commonName c.2499delT RPGR_00356 commonName c.2499_2500dupTG RPGR_00150 commonName c.2501delA RPGR_00151 commonName c.2505_2506delGG RPGR_00152 commonName c.2506delG RPGR_00303 commonName c.2506dupG RPGR_00154 commonName c.2516_2520delAAGGG RPGR_00155 commonName c.2517_2518delAG RPGR_00156 commonName c.2522delA RPGR_00157 commonName c.2529delA RPGR_00050 commonName c.2536G>T RPGR_00226 commonName c.2541_2561del21 RPGR_00158 commonName c.2543delA RPGR_00344 commonName c.2548delG RPGR_00346 commonName c.2548_2667del120insAGGGAGAA RPGR_00159 commonName c.2554_2555insG RPGR_00051 commonName c.2557G>T RPGR_00160 commonName c.2571_2572delAG RPGR_00161 commonName c.2586_2587delGG RPGR_00052 commonName c.2590G>T RPGR_00162 commonName c.2601_2602delGG RPGR_00227 commonName c.2606_2620del15 RPGR_00304 commonName c.2608_2611delGAAG RPGR_00163 commonName c.2613_2614delGG RPGR_00228 commonName c.2615_2616ins21 RPGR_00165 commonName c.2625_2626insA RPGR_00166 commonName c.2628_2629delGG RPGR_00053 commonName c.2629G>T RPGR_00305 commonName c.2635dupG RPGR_00054 commonName c.2650G>T RPGR_00167 commonName c.2655_2656delGG RPGR_00168 commonName c.2659_2662delGGAG RPGR_00231 commonName c.2665G>T RPGR_00229 commonName c.2665_2667delGAG RPGR_00230 commonName c.2667_2669delGGA RPGR_00264 commonName c.2670_2744dup75 RPGR_00169 commonName c.2679_2680delGG RPGR_00055 commonName c.2683G>T RPGR_00056 commonName c.2707G>T RPGR_00170 commonName c.2714_2715delAA RPGR_00171 commonName c.2715_2716insCCTC RPGR_00057 commonName c.2716G>T RPGR_00232 commonName c.2717_2719delAGG RPGR_00172 commonName c.2730_2731delGG RPGR_00173 commonName c.2760_2761delAG RPGR_00174 commonName c.2763_2764delGG RPGR_00058 commonName c.2782G>T RPGR_00175 commonName c.2790_2791delGG RPGR_00306 commonName c.2792delA RPGR_00059 commonName c.2800G>T RPGR_00234 commonName c.2804_2824dup21 RPGR_00060 commonName c.2812G>T RPGR_00233 commonName c.2820_2840dup21 RPGR_00176 commonName c.2836_2840delGGGGA RPGR_00307 commonName c.2838_2839delGG RPGR_00308 commonName c.2840delA RPGR_00309 commonName c.2840_2844del5 RPGR_00177 commonName c.2845delG RPGR_00061 commonName c.2848G>T RPGR_00178 commonName c.2851_2854delGAGG RPGR_00179 commonName c.2862dupA RPGR_00180 commonName c.2866delG RPGR_00311 commonName c.2867delA RPGR_00062 commonName c.2872G>T RPGR_00235 commonName c.2884G>A RPGR_00181 commonName c.2892_2893delGG RPGR_00310 commonName c.2893delG RPGR_00182 commonName c.2894delA RPGR_00183 commonName c.2899delG RPGR_00236 commonName c.2903_2923dup21 RPGR_00312 commonName c.2908_2931dup24 RPGR_00184 commonName c.2916_2917delGG RPGR_00063 commonName c.2917G>T RPGR_00237 commonName c.2918_2938dup21 RPGR_00335 commonName c.2919delA RPGR_00328 commonName c.2924_2943dup20 RPGR_00064 commonName c.2929G>T RPGR_00185 commonName c.2935_2936delGG RPGR_00186 commonName c.2944delG RPGR_00187 commonName c.2952_2978del27insT RPGR_00314 commonName c.2964_2965delGG RPGR_00267 commonName c.2973_2987del15 RPGR_00188 commonName c.2984_2985delGG RPGR_00334 commonName c.2985_2986delGG RPGR_00189 commonName c.2992_2996delGAAGG RPGR_00190 commonName c.2995_2996delGG RPGR_00191 commonName c.2997_2998delGG RPGR_00192 commonName c.3007_3008delGG RPGR_00193 commonName c.3007_3010delGGAG RPGR_00194 commonName c.3011_3012delAG RPGR_00333 commonName c.3027_3028delGG RPGR_00195 commonName c.3050_3051delAG RPGR_00239 commonName c.3051_3062del12 RPGR_00196 commonName c.3058delG RPGR_00240 commonName c.3060_3071del12 RPGR_00241 commonName c.3061_3072del12 RPGR_00242 commonName c.3074_3085del12 RPGR_00197 commonName c.3090_3091delAG RPGR_00198 commonName c.3092delA RPGR_00199 commonName c.3092_3093delAG RPGR_00200 commonName c.3096_3097delGG RPGR_00201 commonName c.3097delG RPGR_00315 commonName c.3175_3176delAG RPGR_00065 commonName c.3211G>T RPGR_00243 commonName c.3219C>T RPGR_00244 commonName c.3231T>A RPGR_00066 commonName c.3232G>T RPGR_00202 commonName c.3316_3319delAAGT RPGR_00313 commonName c.3317_3318insA RPGR_00317 commonName c.3394_3395delAA RPGR_00358 commonName c.3395delA RPGR_00245 commonName c.3396T>C RPGR_00332 commonName c.3428A>G RPGR_00246 commonName c.3430A>G LQTS_NM_000238.2:c.87C>A commonName 87C>A LQTS_NM_000238.2:c.87C>A protEffect F29L LQTS_NM_000238.2:c.98A>C commonName 98A>C LQTS_NM_000238.2:c.98A>C protEffect N33T LQTS_NM_000238.2:c.132C>A commonName 132C>A LQTS_NM_000238.2:c.132C>A protEffect C44X LQTS_NM_000238.2:c.140G>T commonName 140G>T LQTS_NM_000238.2:c.140G>T protEffect G47V LQTS_NM_000238.2:c.157G>C commonName 157G>C LQTS_NM_000238.2:c.157G>C protEffect G53R LQTS_NM_000238.2:c.167G>A commonName 167G>A LQTS_NM_000238.2:c.167G>A protEffect R56Q LQTS_NM_000238.2:c.196T>G commonName 196T>G LQTS_NM_000238.2:c.196T>G protEffect C66G LQTS_NM_000238.2:c.209A>G commonName 209A>G LQTS_NM_000238.2:c.209A>G protEffect H70R LQTS_NM_000238.2:c.215C>A commonName 215C>A LQTS_NM_000238.2:c.215C>A protEffect P72Q LQTS_NM_000238.2:c.221_251del commonName 221-251del LQTS_NM_000238.2:c.221_251del protEffect 31 bp deletion LQTS_NM_000238.2:c.234_250dup commonName 234-250dup LQTS_NM_000238.2:c.234_250dup protEffect 16 bp duplication LQTS_NM_000238.2:p.A78P commonName A78P LQTS_NM_000238.2:p.A78P protEffect p.A78P LQTS_NM_000238.2:c.241C>T commonName 241C>T LQTS_NM_000238.2:c.241C>T protEffect Q81X LQTS_NM_000238.2:c.257T>G commonName 257G>T LQTS_NM_000238.2:c.257T>G protEffect L86R LQTS_NM_000238.2:c.260T>C commonName 260T>C LQTS_NM_000238.2:c.260T>C protEffect L87P LQTS_NM_000238.2:c.287T>C commonName 287T>C LQTS_NM_000238.2:c.287T>C protEffect I96T LQTS_NM_000238.2:c.296A>C commonName 296A>C LQTS_NM_000238.2:c.296A>C protEffect Y99S LQTS_NM_000238.2:c.391G>A commonName 391A>G LQTS_NM_000238.2:c.391G>A protEffect K101E LQTS_NM_000238.2:p.M124R commonName M124R LQTS_NM_000238.2:p.M124R protEffect p.M124R LQTS_NM_000238.2:c.453delC commonName 453delC LQTS_NM_000238.2:c.453delC protEffect 1 bp deletion LQTS_NM_000238.2:c.526C>T commonName 526C>T LQTS_NM_000238.2:c.526C>T protEffect R176W LQTS_NM_000238.2:c.558_600dup commonName 558-600dup LQTS_NM_000238.2:c.558_600dup protEffect 42 bp duplication LQTS_NM_000238.2:c.934C>T commonName 934C>T LQTS_NM_000238.2:c.934C>T protEffect R312C LQTS_NM_000238.2:c.1039C>T commonName 1039C>T LQTS_NM_000238.2:c.1039C>T protEffect P347S LQTS_NM_000238.2:c.1096C>T commonName 1096C>T LQTS_NM_000238.2:c.1096C>T protEffect R366X LQTS_NM_000238.2:c.1128G>A commonName 1128G>A LQTS_NM_000238.2:c.1129-2G>A commonName 1129-2 G>A LQTS_NM_000238.2:c.1199T>A commonName 1199T>A LQTS_NM_000238.2:c.1199T>A protEffect I100N LQTS_NM_000238.2:c.1261delA commonName 1261delA LQTS_NM_000238.2:c.1261delA protEffect 1 bp deletion LQTS_NM_000238.2:c.1283C>A commonName 1283C>A LQTS_NM_000238.2:c.1283C>A protEffect S428X LQTS_NM_000238.2:p.S428L commonName S428L LQTS_NM_000238.2:p.S428L protEffect p.S428L LQTS_NM_000238.2:c.1307C>T commonName 1307C>T LQTS_NM_000238.2:c.1307C>T protEffect T436M LQTS_NM_000238.2:c.1341C>A commonName 1341C>A LQTS_NM_000238.2:c.1341C>A protEffect Y447X LQTS_NM_000238.2:c.1352C>T commonName 1352C>T LQTS_NM_000238.2:c.1352C>T protEffect P451L LQTS_NM_000238.2:c.1408A>G commonName 1408A>G LQTS_NM_000238.2:c.1408A>G protEffect N470D LQTS_NM_000238.2:c.1421C>T commonName 1421C>T LQTS_NM_000238.2:c.1421C>T protEffect T474I LQTS_NM_000238.2:c.1479C>G commonName 1479C>G LQTS_NM_000238.2:c.1479C>G protEffect Y493X LQTS_NM_000238.2:c.1496_1523del commonName 1496-1523dle LQTS_NM_000238.2:c.1496_1523del protEffect I500-F508del LQTS_NM_000238.2:c.1501G>A commonName 1501A>G LQTS_NM_000238.2:c.1501G>A protEffect D501N LQTS_NM_000238.2:c.1592G>A commonName 1592G>A LQTS_NM_000238.2:c.1592G>A protEffect R531Q LQTS_NM_000238.2:p.L552S commonName L552S LQTS_NM_000238.2:p.L552S protEffect p.L552S LQTS_NM_000238.2:c.1600C>T commonName 1600C>T LQTS_NM_000238.2:c.1600C>T protEffect R635C LQTS_NM_000238.2:c.1655T>C commonName 1655T>C LQTS_NM_000238.2:c.1655T>C protEffect L552S LQTS_NM_000238.2:c.1672G>C commonName 1672G>C LQTS_NM_000238.2:c.1672G>C protEffect A558P LQTS_NM_000238.2:c.1681G>A commonName 1681G>A LQTS_NM_000238.2:c.1681G>A protEffect A561T LQTS_NM_000238.2:c.1682C>T commonName 1682C>T LQTS_NM_000238.2:c.1682C>T protEffect A561V LQTS_NM_000238.2:c.1691T>C commonName 1691T>C LQTS_NM_000238.2:c.1691T>C protEffect L564P LQTS_NM_000238.2:c.1705T>C commonName 1705T>C LQTS_NM_000238.2:c.1705T>C protEffect Y569H LQTS_NM_000238.2:c.1714G>C commonName 1714G>C LQTS_NM_000238.2:c.1714G>C protEffect G572R LQTS_NM_000238.2:c.1714G>T commonName 1714G>T LQTS_NM_000238.2:c.1714G>T protEffect G572C LQTS_NM_000238.2:c.1750G>A commonName 1750G>A LQTS_NM_000238.2:c.1750G>A protEffect W585C LQTS_NM_000238.2:c.1755G>T commonName 1755G>T LQTS_NM_000238.2:c.1755G>T protEffect W585C LQTS_NM_000238.2:c.1762A>G commonName 1762A>G LQTS_NM_000238.2:c.1762A>G protEffect N588D LQTS_NM_000238.2:c.1778T>C commonName 1778T>C LQTS_NM_000238.2:c.1778T>C protEffect I593R LQTS_NM_000238.2:c.1778T>G commonName 1778T>G LQTS_NM_000238.2:c.1778T>G protEffect I593G LQTS_NM_000238.2:p.I593X commonName I593X LQTS_NM_000238.2:p.I593X protEffect p.I593X LQTS_NM_000238.2:p.P596L commonName P596L LQTS_NM_000238.2:p.P596L protEffect p.P596L LQTS_NM_000238.2:c.1801G>A commonName 1801G>A LQTS_NM_000238.2:c.1801G>A protEffect G601S LQTS_NM_000238.2:c.1810G>A commonName 1810G>A LQTS_NM_000238.2:c.1810G>A protEffect G604S LQTS_NM_000238.2:c.1825G>A commonName 1825G>A LQTS_NM_000238.2:c.1825G>A protEffect D609N LQTS_NM_000238.2:c.1831T>C commonName 1831T>C LQTS_NM_000238.2:c.1831T>C protEffect Y611H LQTS_NM_000238.2:c.1833T>A/G commonName 1833T>A/G LQTS_NM_000238.2:c.1833T>A/G protEffect Y611X LQTS_NM_000238.2:c.1834G>T commonName 1834G>T LQTS_NM_000238.2:c.1834G>T protEffect V612L LQTS_NM_000238.2:c.1838C>T commonName 1838C>T LQTS_NM_000238.2:c.1838C>T protEffect T613M LQTS_NM_000238.2:c.1862G>A commonName 1862G>A LQTS_NM_000238.2:c.1862G>A protEffect S621N LQTS_NM_000238.2:c.1876G>A commonName 1876G>A LQTS_NM_000238.2:c.1876G>A protEffect G626S LQTS_NM_000238.2:c.1877G>T commonName 1877G>T LQTS_NM_000238.2:c.1877G>T protEffect G626V LQTS_NM_000238.2:c.1881C>G commonName 1881G>C LQTS_NM_000238.2:c.1881C>G protEffect F627L LQTS_NM_000238.2:c.1882G>A commonName 1882G>A LQTS_NM_000238.2:c.1882G>A protEffect G628S LQTS_NM_000238.2:c.1885A>G commonName 1885A>G LQTS_NM_000238.2:c.1885A>G protEffect N629D LQTS_NM_000238.2:c.1886A>G commonName 1886A>G LQTS_NM_000238.2:c.1886A>G protEffect N629S LQTS_NM_000238.2:p.N629K commonName N629K LQTS_NM_000238.2:p.N629K protEffect p.N629K LQTS_NM_000238.2:c.1888G>C commonName 1888G>C LQTS_NM_000238.2:c.1888G>C protEffect V630L LQTS_NM_000238.2:c.1889T>C commonName 1889T>C LQTS_NM_000238.2:c.1889T>C protEffect V630A LQTS_NM_000238.2:c.1894C>T commonName 1894C>T LQTS_NM_000238.2:c.1894C>T protEffect P632S LQTS_NM_000238.2:c.1898A>G commonName 1898A>G LQTS_NM_000238.2:c.1898A>G protEffect N633S LQTS_NM_000238.2:c.1912A>G commonName 1912A>G LQTS_NM_000238.2:c.1912A>G protEffect K638E LQTS_NM_000238.2:c.1913_1915del commonName 1913-15del LQTS_NM_000238.2:c.1913_1915del protEffect K638del LQTS_NM_000238.2:c.1920C>A commonName 1920C>A LQTS_NM_000238.2:c.1920C>A protEffect F640L LQTS_NM_000238.2:c.1933A>T commonName 1933A>T LQTS_NM_000238.2:c.1933A>T protEffect M645L LQTS_NM_000238.2:c.1951_1952delAT commonName 1951-1952delAT LQTS_NM_000238.2:c.1951_1952delAT protEffect 2 bp deletion LQTS_NM_000238.2:c.2001C>A commonName 2001C>A LQTS_NM_000238.2:c.2001C>A protEffect Y667X LQTS_NM_000238.2:c.2044G>T commonName 2044G>T LQTS_NM_000238.2:c.2044G>T protEffect E682X LQTS_NM_000238.2:c.2092G>T commonName 2092G>T LQTS_NM_000238.2:c.2092G>T protEffect E698X LQTS_NM_000238.2:c.2173C>T commonName 2173C>T LQTS_NM_000238.2:c.2173C>T protEffect Q725X LQTS_NM_000238.2:c.2254C>T commonName 2254C>T LQTS_NM_000238.2:c.2254C>T protEffect R752W LQTS_NM_000238.2:c.2350C>T commonName 2350C>T LQTS_NM_000238.2:c.2350C>T protEffect R784W LQTS_NM_000238.2:c.2356_2376dup commonName 2356-2376dup LQTS_NM_000238.2:c.2356_2376dup protEffect 31 bp duplication LQTS_NM_000238.2:c.2395delC commonName 2395delC LQTS_NM_000238.2:c.2395delC protEffect 1 bp deletion LQTS_NM_000238.2:c.2398+1G>C commonName 2398+1G>C LQTS_NM_000238.2:c.2398+1G>C protEffect IVS9 DS+1 LQTS_NM_000238.2:c.2414T>C commonName 2414T>C LQTS_NM_000238.2:c.2414T>C protEffect F805S LQTS_NM_000238.2:c.2414T>G commonName 2414T>G LQTS_NM_000238.2:c.2414T>G protEffect F805C LQTS_NM_000238.2:c.2453C>T commonName 2453C>T LQTS_NM_000238.2:c.2453C>T protEffect S818L LQTS_NM_000238.2:c.2464G>A commonName 2464G>A LQTS_NM_000238.2:c.2464G>A protEffect V822M LQTS_NM_000238.2:c.2467C>T commonName 2467C>T LQTS_NM_000238.2:c.2467C>T protEffect R823W LQTS_NM_000238.2:c.2582A>T commonName 2582A>T LQTS_NM_000238.2:c.2582A>T protEffect N861I LQTS_NM_000238.2:c.2592+1G>A commonName 2592+1G>A LQTS_NM_000238.2:c.2592+1G>A protEffect IVS1+ DS+1 LQTS_NM_000238.2:c.2616delC commonName 2616delC LQTS_NM_000238.2:c.2616delC protEffect P872fs877 LQTS_NM_000238.2:c.2660delG commonName 2660delG LQTS_NM_000238.2:c.2660delG protEffect 1 bp deletion LQTS_NM_000238.2:c.2750C>T commonName 2750C>T LQTS_NM_000238.2:c.2750C>T protEffect P917L LQTS_NM_000238.2:c.2764C>T commonName 2764C>T LQTS_NM_000238.2:c.2764C>T protEffect R922W LQTS_NM_000238.2:c.2906delG commonName 2906delG LQTS_NM_000238.2:c.2906delG protEffect 1 bp deletion LQTS_NM_000238.2:p.W1001X commonName W1001X LQTS_NM_000238.2:p.W1001X protEffect p.W1001X LQTS_NM_000238.2:c.3040C>T commonName 3040C>T LQTS_NM_000238.2:c.3040C>T protEffect R1014X LQTS_NM_000238.2:c.3094delC commonName 3094delC LQTS_NM_000238.2:c.3094delC protEffect 1 bp deletion LQTS_NM_000238.2:c.2690A>C commonName 2690A>C LQTS_NM_000238.2:c.2690A>C protEffect K897T LQTS_NM_000238.2:p.R1047L commonName R1047L LQTS_NM_000238.2:p.R1047L protEffect p.R1047L LQTS_NM_000238.2:c.1467C>T commonName 1467C>T LQTS_NM_000238.2:c.1467C>T protEffect I489I LQTS_NM_000238.2:c.1539C>T commonName 1539C>T LQTS_NM_000238.2:c.1539C>T protEffect F513F LQTS_NM_000238.2:c.1692A>G commonName 1692A>G LQTS_NM_000238.2:c.1692A>G protEffect L564L LQTS_NM_000238.2:c.1956T>C commonName 1956T>C LQTS_NM_000238.2:c.1956T>C protEffect Y652Y LQTS_NM_000238.2:c.2965+22A>G commonName 2965+22 A>G LQTS_NM_000238.2:c.2965+22A>G protEffect Intronic; variant LQTS_4557686:c.20C>T;226G>A commonName 20C>T, 226G>A LQTS_4557686:c.20C>T;226G>A protEffect T71I, D76N LQTS_4557686:c.95G>A commonName 95G>A LQTS_4557686:c.95G>A protEffect R32H LQTS_4557686:c.95G>A phenoCommon Romano-Ward syndrome LQTS_4557686:c.139G>T commonName 139G>T LQTS_4557686:c.139G>T protEffect V47F; L51H LQTS_4557686:c.139G>T phenoCommon Jervell and Lange-Nielsen syndrome LQTS_4557686:c.172A>C;176T>C;177G>T commonName 172A>C; 176T>C; 177G>T LQTS_4557686:c.172A>C;176T>C;177G>T protEffect T58P; L59P LQTS_4557686:c.221C>T commonName 221C>T LQTS_4557686:c.221C>T protEffect S74L LQTS_4557686:c.221C>T phenoCommon Romano-Ward syndrome LQTS_4557686:c.226G>A commonName 226G>A LQTS_4557686:c.226G>A protEffect D76L LQTS_4557686:c.226G>A phenoCommon RWS, JLNS LQTS_4557686:c.259T>C commonName 259T>C LQTS_4557686:c.259T>C protEffect W87R LQTS_4557686:c.259T>C phenoCommon Romano-Ward syndrome LQTS_4557686:c.292C>T commonName 292C>T LQTS_4557686:c.292C>T protEffect R98W LQTS_4557686:c.292C>T phenoCommon Romano-Ward syndrome LQTS_4557686:c.325G>A commonName 325G>A LQTS_4557686:c.325G>A protEffect V109I LQTS_4557686:c.325G>A phenoCommon Romano-Ward syndrome LQTS_4557686:c.379C>A commonName 379C>A LQTS_4557686:c.379C>A protEffect P127T LQTS_4557686:c.379C>A phenoCommon Romano-Ward syndrome LQTS_4557686:c.112G>A commonName 112A>G LQTS_4557686:c.112G>A protEffect S38G LQTS_4557686:c.112G>A phenoCommon Normal; variant LQTS_4557686:c.253G>A commonName 253G>A LQTS_4557686:c.253G>A protEffect D85N LQTS_4557686:c.253G>A phenoCommon Normal; variant LQTS_NM_000335.4:c.376A>G commonName 376A>G LQTS_NM_000335.4:c.376A>G protEffect K126E LQTS_NM_000335.4:c.376A>G phenoCommon Ideopathic ventricular fiblillation LQTS_NM_000335.4:c.892G>A commonName 892G>A LQTS_NM_000335.4:c.892G>A protEffect G298S LQTS_NM_000335.4:c.1052G>T commonName 1052G>T LQTS_NM_000335.4:c.1052G>T protEffect G351V LQTS_NM_000335.4:c.1052G>T phenoCommon Ideopathic ventricular fiblillation LQTS_NM_000335.4:p.L619F commonName L619F LQTS_NM_000335.4:p.L619F protEffect p.L619F LQTS_NM_000335.4:c.2989G>T commonName 2989G>T LQTS_NM_000335.4:c.2989G>T protEffect A997S LQTS_NM_000335.4:c.3305C>A commonName 3305C>A LQTS_NM_000335.4:c.3305C>A protEffect S1102Y LQTS_NM_000335.4:p.E1295K commonName E1295K LQTS_NM_000335.4:p.E1295K protEffect p.E1295K LQTS_NM_000335.4:c.3816delG commonName 3816delG LQTS_NM_000335.4:c.3816delG protEffect L1229ter/; Splice LQTS_NM_000335.4:c.3816delG phenoCommon Romano-Ward syndrome LQTS_NM_000335.4:c.4372T>G commonName 4372G>T LQTS_NM_000335.4:c.4372T>G protEffect G1406R LQTS_NM_000335.4:p.R1432G commonName R1432G LQTS_NM_000335.4:p.R1432G protEffect p.R1432G LQTS_NM_000335.4:c.4501G>C commonName 4501 C>G LQTS_NM_000335.4:c.4501G>C protEffect L1501V LQTS_NM_000335.4:c.4501G>C phenoCommon Romano-Ward syndrome LQTS_NM_000335.4:c.4511_4520del commonName 4511-4520del LQTS_NM_000335.4:c.4511_4520del protEffect 1505-1507delKPQ LQTS_NM_000335.4:c.4511_4520del phenoCommon Romano-Ward syndrome LQTS_NM_000335.4:p.R1512W commonName R1512W LQTS_NM_000335.4:p.R1512W protEffect p.R1512W LQTS_NM_000335.4:c.4850_4852del commonName 4850-4852del LQTS_NM_000335.4:c.4850_4852del protEffect 1617delF LQTS_NM_000335.4:c.4850_4852del phenoCommon Romano-Ward syndrome LQTS_NM_000335.4:c.4868T>G commonName 4868 G>T LQTS_NM_000335.4:c.4868T>G protEffect R1623L LQTS_NM_000335.4:c.4868T>G phenoCommon Romano-Ward syndrome LQTS_NM_000335.4:c.4934T>C commonName 4934 C>T LQTS_NM_000335.4:c.4934T>C protEffect T1645M LQTS_NM_000335.4:c.4934T>C phenoCommon Romano-Ward syndrome LQTS_NM_000335.4:c.4999A>G commonName 4999G>A LQTS_NM_000335.4:c.4999A>G protEffect I1667V LQTS_NM_000335.4:c.5227A>G commonName 5227G>A LQTS_NM_000335.4:c.5227A>G protEffect G1743R LQTS_NM_000335.4:c.5227A>G phenoCommon Brugada LQTS_NM_000335.4:c.5298C>A commonName 5298A>C LQTS_NM_000335.4:c.5298C>A protEffect M1766L LQTS_NM_000335.4:c.5298C>A phenoCommon Ideopathic ventricular fiblillation LQTS_NM_000335.4:c.5302G>A commonName 5302A>G LQTS_NM_000335.4:c.5302G>A protEffect I1768V LQTS_NM_000335.4:c.5329G>A commonName 5329G>A LQTS_NM_000335.4:c.5329G>A protEffect V1777M LQTS_NM_000335.4:c.5349G>A commonName 5349 G>A LQTS_NM_000335.4:c.5349G>A protEffect E1784K LQTS_NM_000335.4:c.5349G>A phenoCommon Romano-Ward syndrome LQTS_NM_000335.4:c.5360A>G commonName 5360 G>A LQTS_NM_000335.4:c.5360A>G protEffect S1787N LQTS_NM_000335.4:c.5360A>G phenoCommon Romano-Ward syndrome LQTS_NM_000335.4:p.Y1795C commonName Y1795C LQTS_NM_000335.4:p.Y1795C protEffect p.Y1795C LQTS_NM_000335.4:p.Y1975H commonName Y1975H LQTS_NM_000335.4:p.Y1975H protEffect p.Y1975H LQTS_NM_000335.4:c.1673A>G commonName 1673 A>G LQTS_NM_000335.4:c.1673A>G protEffect H555R LQTS_NM_000335.4:c.4500G>T commonName 4500 G>T LQTS_NM_000335.4:c.4500G>T protEffect K1500N LQTS_NM_000335.4:c.1017C>T commonName 1017 C>T LQTS_NM_000335.4:c.1017C>T protEffect Y339Y LQTS_NM_000335.4:c.4299+53T>C commonName 4299 +53 T>C LQTS_NM_000335.4:c.4299+53T>C protEffect Intronic variant LQTS_NM_000335.4:c.5454T>C commonName 5454 C>T LQTS_NM_000335.4:c.5454T>C protEffect A1818A LQTS_NM_000335.4:c.5457C>T commonName 5457 C>T LQTS_NM_000335.4:c.5457C>T protEffect D1819D LQTS_NM_005136.2:c.25C>G commonName 25C>G LQTS_NM_005136.2:c.25C>G protEffect Q9E LQTS_NM_005136.2:c.25C>G phenoCommon Arrthymia LQTS_NM_005136.2:c.161T>C commonName 161T>C LQTS_NM_005136.2:c.161T>C protEffect M54T LQTS_NM_005136.2:c.161T>C phenoCommon Arrthymia LQTS_NM_005136.2:c.193G>A commonName 193G>A LQTS_NM_005136.2:c.193G>A protEffect V65M LQTS_NM_005136.2:c.193G>A phenoCommon Arrthymia LQTS_NM_005136.2:c.170T>C commonName 170T>C LQTS_NM_005136.2:c.170T>C protEffect I57T LQTS_NM_005136.2:c.170T>C phenoCommon Arrthymia LQTS_NM_005136.2:c.420C>T commonName 420C>T LQTS_NM_005136.2:c.420C>T protEffect A116V LQTS_NM_005136.2:c.420C>T phenoCommon Arrthymia LQTS_NM_005136.2:c.22A>G commonName 22A>G LQTS_NM_005136.2:c.22A>G protEffect T8A LQTS_NM_005136.2:c.22A>G phenoCommon Normal variant LQTS_NM_005136.2:c.-28A>G commonName -28 A/G LQTS_AF000571.1:c.211_219del commonName 211-219del LQTS_AF000571.1:c.211_219del protEffect 71-73 delAAP LQTS_AF000571.1:c.211_219del phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.332A>G commonName 332 A>G LQTS_AF000571.1:c.332A>G protEffect Y111C LQTS_AF000571.1:c.332A>G phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.341T>C commonName 341T>C LQTS_AF000571.1:c.341T>C protEffect L114P LQTS_AF000571.1:c.470T>G commonName 470 T>G LQTS_AF000571.1:c.470T>G protEffect F157C LQTS_AF000571.1:c.470T>G phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.478G>A commonName 478 G>A LQTS_AF000571.1:c.478G>A protEffect E160K LQTS_AF000571.1:c.478G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.500_502del commonName 500-2 del LQTS_AF000571.1:c.500_502del protEffect F167W/ del168G LQTS_AF000571.1:c.500_502del phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.502G>C commonName 502 G>C LQTS_AF000571.1:c.502G>C protEffect G168R LQTS_AF000571.1:c.502G>C phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.504delG commonName 504delG LQTS_AF000571.1:c.504delG phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.513C>G commonName 513C>G LQTS_AF000571.1:c.513C>G protEffect Y171X LQTS_AF000571.1:c.513C>G phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.520C>T commonName 520C>T LQTS_AF000571.1:c.520C>T protEffect R174C LQTS_AF000571.1:c.520C>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.521G>A commonName 521G>A LQTS_AF000571.1:c.521G>A protEffect R174H LQTS_AF000571.1:c.521G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.532G>C commonName 532G>C LQTS_AF000571.1:c.532G>C protEffect A178P LQTS_AF000571.1:c.532G>C phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.532G>A commonName 532G>A LQTS_AF000571.1:c.532G>A protEffect G178T LQTS_AF000571.1:c.532G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.535G>A commonName 535 G>A LQTS_AF000571.1:c.535G>A protEffect G179S LQTS_AF000571.1:c.535G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.551A>C commonName 551A>C LQTS_AF000571.1:c.551A>C protEffect Y184S LQTS_AF000571.1:c.551A>C phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.565G>A commonName 565G>A LQTS_AF000571.1:c.565G>A protEffect G189R LQTS_AF000571.1:c.565G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.569G>A commonName 569G>A LQTS_AF000571.1:c.569G>A protEffect R190Q LQTS_AF000571.1:c.569G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.572_576del commonName 572-76del LQTS_AF000571.1:c.572_576del phenoCommon Jervell and Lange-Nielsen syndrome LQTS_AF000571.1:p.F193L commonName F193L LQTS_AF000571.1:p.F193L protEffect p.F193L LQTS_AF000571.1:c.580G>C commonName 580G>C LQTS_AF000571.1:c.580G>C protEffect A194P LQTS_AF000571.1:c.580G>C phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.674C>T commonName 674C>T LQTS_AF000571.1:c.674C>T protEffect S225L LQTS_AF000571.1:c.674C>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.724G>A commonName 724G>A LQTS_AF000571.1:c.724G>A protEffect D242N LQTS_AF000571.1:c.724G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.727C>T commonName 727C>T LQTS_AF000571.1:c.727C>T protEffect R243C LQTS_AF000571.1:c.727C>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.728G>A commonName 728G>A LQTS_AF000571.1:c.728G>A protEffect R243H LQTS_AF000571.1:c.728G>A phenoCommon Jervell and Lange-Nielsen syndrome LQTS_AF000571.1:c.742T>A commonName 742T>A LQTS_AF000571.1:c.742T>A protEffect W248R LQTS_AF000571.1:c.742T>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:p.L251P commonName L251P LQTS_AF000571.1:p.L251P protEffect p.L251P LQTS_AF000571.1:c.760G>A commonName 760G>A LQTS_AF000571.1:c.760G>A protEffect V254M LQTS_AF000571.1:c.760G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.775C>T commonName 775C>T LQTS_AF000571.1:c.775C>T protEffect R259C LQTS_AF000571.1:c.775C>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.781G>A commonName 781G>A LQTS_AF000571.1:c.781G>A protEffect E261K LQTS_AF000571.1:c.781G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.783G>C commonName 783G>C LQTS_AF000571.1:c.783G>C protEffect E261D LQTS_AF000571.1:c.783G>C phenoCommon Jervell and Lange-Nielsen syndrome LQTS_AF000571.1:c.797T>A commonName 797T>A LQTS_AF000571.1:c.797T>A protEffect L266P LQTS_AF000571.1:c.797T>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.805G>A commonName 805G>A LQTS_AF000571.1:c.805G>A protEffect G269S LQTS_AF000571.1:c.805G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.806G>A commonName 806G>A LQTS_AF000571.1:c.806G>A protEffect G269D LQTS_AF000571.1:c.806G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.817C>T commonName 817C>T LQTS_AF000571.1:c.817C>T protEffect L273F LQTS_AF000571.1:c.817C>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.842A>G commonName 842A>G LQTS_AF000571.1:c.842A>G protEffect Y281C LQTS_AF000571.1:c.842A>G phenoCommon Romano-Ward syndrome, recessive/with variable penetrans LQTS_AF000571.1:c.898G>A commonName 898G>A LQTS_AF000571.1:c.898G>A protEffect A300T LQTS_AF000571.1:c.898G>A phenoCommon Romano-Ward syndrome, recessive/with variable penetrans LQTS_AF000571.1:c.914G>C commonName 914G>C LQTS_AF000571.1:c.914G>C protEffect W305S LQTS_AF000571.1:c.914G>C phenoCommon Jervell and Lange-Nielsen syndrome LQTS_AF000571.1:c.914G>A commonName 914G>A LQTS_AF000571.1:c.914G>A protEffect W305X LQTS_AF000571.1:c.916G>A commonName 916G>A LQTS_AF000571.1:c.916G>A protEffect G306R LQTS_AF000571.1:c.916G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.921+1G>T commonName 921+1 G>T LQTS_AF000571.1:c.921+1G>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.922-2A>C commonName 922-2A>C LQTS_AF000571.1:c.922-2A>C phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.922-1G>C commonName 922-1G>C LQTS_AF000571.1:c.922-1G>C phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.926C>G commonName 926C>G LQTS_AF000571.1:c.926C>G protEffect T309R LQTS_AF000571.1:c.926C>G phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.926C>T commonName 926C>T LQTS_AF000571.1:c.926C>T protEffect T309I LQTS_AF000571.1:c.928G>A commonName 928G>A LQTS_AF000571.1:c.928G>A protEffect V310I LQTS_AF000571.1:c.928G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.932C>T commonName 932C>T LQTS_AF000571.1:c.932C>T protEffect T311I LQTS_AF000571.1:c.932C>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.935C>T commonName 935C>T LQTS_AF000571.1:c.935C>T protEffect T312I LQTS_AF000571.1:c.935C>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.939C>G commonName 939C>G LQTS_AF000571.1:c.939C>G protEffect I313M LQTS_AF000571.1:c.939C>G phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.940G>A commonName 940G>A LQTS_AF000571.1:c.940G>A protEffect G314S LQTS_AF000571.1:c.940G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.940G>T commonName 940G>T LQTS_AF000571.1:c.940G>T protEffect G314C LQTS_AF000571.1:c.944A>C commonName 944A>C LQTS_AF000571.1:c.944A>C protEffect Y315S LQTS_AF000571.1:c.944A>C phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.944A>G commonName 944A>G LQTS_AF000571.1:c.944A>G protEffect Y315C LQTS_AF000571.1:c.944A>G phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.946G>C commonName 946G>C LQTS_AF000571.1:c.946G>C protEffect G316R LQTS_AF000571.1:c.949G>A commonName 949G>A LQTS_AF000571.1:c.949G>A protEffect D317N LQTS_AF000571.1:c.949G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.954G>C commonName 954G>C LQTS_AF000571.1:c.954G>C protEffect K318N LQTS_AF000571.1:c.954G>C phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.958C>G commonName 958C>G LQTS_AF000571.1:c.958C>G protEffect P320A LQTS_AF000571.1:c.958C>G phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.973G>A commonName 973G>A LQTS_AF000571.1:c.973G>A protEffect G325R LQTS_AF000571.1:c.973G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1008delC commonName 1008delC LQTS_AF000571.1:c.1008delC phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1015_1017del commonName 1015-17del LQTS_AF000571.1:c.1015_1017del protEffect 339del F LQTS_AF000571.1:c.1015_1017del phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1017_1019del commonName 1017-19del LQTS_AF000571.1:c.1017_1019del protEffect 340del F LQTS_AF000571.1:c.1017_1019del phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1022C>A commonName 1022C>A LQTS_AF000571.1:c.1022C>A protEffect A341E LQTS_AF000571.1:c.1022C>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1022C>T commonName 1022C>T LQTS_AF000571.1:c.1022C>T protEffect A341V LQTS_AF000571.1:c.1022C>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1024C>T commonName 1024C>T LQTS_AF000571.1:c.1024C>T protEffect L342F LQTS_AF000571.1:c.1024C>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1032G>A commonName 1032G>A LQTS_AF000571.1:c.1032G>A protEffect A344A LQTS_AF000571.1:c.1032G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1032G>T commonName 1032G>T LQTS_AF000571.1:c.1032G>T protEffect A344A LQTS_AF000571.1:c.1032G>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1032G>C commonName 1032G>C LQTS_AF000571.1:c.1032G>C protEffect A344A LQTS_AF000571.1:c.1032G>C phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1033G>C commonName 1033G>C LQTS_AF000571.1:c.1033G>C protEffect G345R LQTS_AF000571.1:c.1033G>C phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1033G>A commonName 1033G>A LQTS_AF000571.1:c.1033G>A protEffect G345E LQTS_AF000571.1:c.1033G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1046C>G commonName 1046G>C LQTS_AF000571.1:c.1046C>G protEffect S349W LQTS_AF000571.1:c.1046C>G phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1058T>C commonName 1058T>C LQTS_AF000571.1:c.1058T>C protEffect L353P LQTS_AF000571.1:c.1058T>C phenoCommon   LQTS_AF000571.1:c.1066C>T commonName 1066C>T LQTS_AF000571.1:c.1066C>T protEffect Q356X LQTS_AF000571.1:c.1070A>G commonName 1070A>G LQTS_AF000571.1:c.1070A>G protEffect Q357R LQTS_AF000571.1:c.1096C>T commonName 1096C>T LQTS_AF000571.1:c.1096C>T protEffect R366W LQTS_AF000571.1:c.1096C>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1097G>A commonName 1097G>A LQTS_AF000571.1:c.1097G>A protEffect R366Q LQTS_AF000571.1:c.1097G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1097G>C commonName 1097G>C LQTS_AF000571.1:c.1097G>C protEffect R366P LQTS_AF000571.1:c.1097G>C phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1111G>A commonName 1111G>A LQTS_AF000571.1:c.1111G>A protEffect A371T LQTS_AF000571.1:c.1111G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1117T>C commonName 1117T>C LQTS_AF000571.1:c.1117T>C protEffect S373P LQTS_AF000571.1:c.1117T>C phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1172C>T commonName 1172C>T LQTS_AF000571.1:c.1172C>T protEffect T391I LQTS_AF000571.1:c.1172C>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1174T>C commonName 1174C>T LQTS_AF000571.1:c.1174T>C protEffect W392R LQTS_AF000571.1:c.1174T>C phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1188delC commonName 1188delC LQTS_AF000571.1:c.1188delC phenoCommon Jervell and Lange-Nielsen syndrome LQTS_AF000571.1:c.760G>A;1249G>A commonName 760G>A, 1249G>A 5 LQTS_AF000571.1:c.760G>A;1249G>A protEffect V417M, V254M LQTS_AF000571.1:c.1343delC commonName 1343delC LQTS_AF000571.1:c.1343delC phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1552C>T commonName 1552C>T LQTS_AF000571.1:c.1552C>T protEffect R518X LQTS_AF000571.1:c.1552C>T phenoCommon RWS(r); / ; JLNS LQTS_AF000571.1:c.1573G>A commonName 1573G>A LQTS_AF000571.1:c.1573G>A protEffect A525T LQTS_AF000571.1:c.1573G>A phenoCommon Romano-Ward syndrome, recessive/with variable penetrans LQTS_AF000571.1:c.1588C>T commonName 1588C>T LQTS_AF000571.1:c.1588C>T protEffect Q530X LQTS_AF000571.1:c.1588C>T phenoCommon RWS/JLNS LQTS_AF000571.1:c.1597C>T commonName 1597C>T LQTS_AF000571.1:c.1597C>T protEffect R533W LQTS_AF000571.1:c.1597C>T phenoCommon Romano-Ward syndrome, recessive/with variable penetrans LQTS_AF000571.1:c.1615C>T commonName 1615C>T LQTS_AF000571.1:c.1615C>T protEffect R539W LQTS_AF000571.1:c.1615C>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1663C>T commonName 1663C>T LQTS_AF000571.1:c.1663C>T protEffect R555C LQTS_AF000571.1:c.1663C>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1697C>T commonName 1697C>T LQTS_AF000571.1:c.1697C>T protEffect S566F LQTS_AF000571.1:c.1697C>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1703G>C commonName 1703G>C LQTS_AF000571.1:c.1703G>C protEffect G568A LQTS_AF000571.1:c.1747C>T commonName 1747C>T LQTS_AF000571.1:c.1747C>T protEffect R583C LQTS_AF000571.1:c.1747C>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1760C>T commonName 1760C>T LQTS_AF000571.1:c.1760C>T protEffect T587M LQTS_AF000571.1:c.1760C>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1766G>A commonName 1766G>A LQTS_AF000571.1:c.1766G>A protEffect G589D LQTS_AF000571.1:c.1766G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1772G>A commonName 1772G>A LQTS_AF000571.1:c.1772G>A protEffect R591H LQTS_AF000571.1:c.1772G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1781G>A commonName 1781G>A LQTS_AF000571.1:c.1781G>A protEffect R594Q LQTS_AF000571.1:c.1781G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1927G>A commonName 1927G>A LQTS_AF000571.1:c.1927G>A protEffect G643S LQTS_AF000571.1:c.1927G>A phenoCommon   LQTS_AF000571.1:c.435C>T commonName 435C>T LQTS_AF000571.1:c.435C>T protEffect I145I LQTS_AF000571.1:c.1110G>A commonName 1110G>A LQTS_AF000571.1:c.1110G>A protEffect A370A LQTS_AF000571.1:c.1394-12C>T commonName 1394 -12 C>T LQTS_AF000571.1:c.1638G>A commonName 1638G>A LQTS_AF000571.1:c.1638G>A protEffect S546S LQTS_AF000571.1:c.1685+23G>A commonName 1685 +23 G>A LQTS_AF000571.1:c.1732+43T>C commonName 1732 +43 T>C LQTS_AF000571.1:c.1986C>T commonName 1986C>T LQTS_AF000571.1:c.1986C>T protEffect Y642Y ACTA1:c.1000C>T protEffect ACTA1:p.Pro334Ser ACTA1:c.1001C>G protEffect ACTA1:p.Pro334Arg ACTA1:c.1006G>A protEffect ACTA1:p.Glu336Lys ACTA1:c.1006G>C protEffect ACTA1:p.Glu336Gln ACTA1:c.1007A>C protEffect ACTA1:p.Glu336Ala ACTA1:c.1012A>G protEffect ACTA1:p.Lys338Glu ACTA1:c.1013A>T protEffect ACTA1:p.Lys338Ile ACTA1:c.1049C>T protEffect ACTA1:p.Ser350Leu ACTA1:c.1057A>G protEffect ACTA1:p.Thr353Ala ACTA1:c.1061T>A protEffect ACTA1:p.Phe354Tyr ACTA1:c.1061T>C protEffect ACTA1:p.Phe354Ser ACTA1:c.1075A>C protEffect ACTA1:p.Ile359Leu ACTA1:c.109G>C protEffect ACTA1:p.Val37Leu ACTA1:c.109G>T protEffect ACTA1:p.Val37Leu ACTA1:c.1106C>T protEffect ACTA1:p.Pro369Leu ACTA1:c.110T>C protEffect ACTA1:p.Val37Ala ACTA1:c.1111A>C protEffect ACTA1:p.Ile371Leu ACTA1:c.1114G>T protEffect ACTA1:p.Val372Phe ACTA1:c.1120C>A protEffect ACTA1:p.Arg374Ser ACTA1:c.1120C>T protEffect ACTA1:p.Arg374Cys ACTA1:c.1123A>C protEffect ACTA1:p.Lys375Gln ACTA1:c.1123A>G protEffect ACTA1:p.Lys375Glu ACTA1:c.1125A>C protEffect ACTA1:p.Lys375Asn ACTA1:c.1127G>C protEffect ACTA1:p.Cys376Ser ACTA1:c.1130T>A protEffect ACTA1:p.Phe377Tyr ACTA1:c.1130T>G protEffect ACTA1:p.Phe377Cys ACTA1:c.1132T>C protEffect ACTA1:p.Stop378Gln ACTA1:c.1133A>G protEffect ACTA1:p.Stop378Trp ACTA1:c.1134G>T protEffect ACTA1:p.Stop378Tyr ACTA1:c.113G>C protEffect ACTA1:p.Gly38Ala ACTA1:c.119C>T protEffect ACTA1:p.Pro40Leu ACTA1:c.121C>T protEffect ACTA1:p.Arg41Stop ACTA1:c.124C>T protEffect ACTA1:p.His42Tyr ACTA1:c.128A>G protEffect ACTA1:p.Gln43Arg ACTA1:c.131G>T protEffect ACTA1:p.Gly44Val ACTA1:c.133G>T protEffect ACTA1:p.Val45Phe ACTA1:c.137T>C protEffect ACTA1:p.Met46Thr ACTA1:c.142G>A protEffect ACTA1:p.Gly48Ser ACTA1:c.142G>T protEffect ACTA1:p.Gly48Cys ACTA1:c.143G>A protEffect ACTA1:p.Gly48Asp ACTA1:c.145A>G protEffect ACTA1:p.Met49Val ACTA1:c.169G>C protEffect ACTA1:p.Gly57Arg ACTA1:c.16G>A protEffect ACTA1:p.Glu6Lys ACTA1:c.172G>A protEffect ACTA1:p.Asp58Asn ACTA1:c.197T>A protEffect ACTA1:p.Ile66Asn ACTA1:c.197T>G protEffect ACTA1:p.Ile66Ser ACTA1:c.203C>A protEffect ACTA1:p.Thr68Asn ACTA1:c.203C>T protEffect ACTA1:p.Thr68Ile ACTA1:c.209A>G protEffect ACTA1:p.Lys70Arg ACTA1:c.210G>A protEffect ACTA1:p.Lys70Lys ACTA1:c.215C>G protEffect ACTA1:p.Pro72Arg ACTA1:c.217A>G protEffect ACTA1:p.Ile73Val ACTA1:c.217A>T protEffect ACTA1:p.Ile73Phe ACTA1:c.220G>A protEffect ACTA1:p.Glu74Lys ACTA1:c.223C>A protEffect ACTA1:p.His75Asn ACTA1:c.224A>G protEffect ACTA1:p.His75Arg ACTA1:c.224A>T protEffect ACTA1:p.His75Leu ACTA1:c.227G>A protEffect ACTA1:p.Gly76Asp ACTA1:c.229A>C protEffect ACTA1:p.Ile77Leu ACTA1:c.230T>G protEffect ACTA1:p.Ile77Ser ACTA1:c.235A>G protEffect ACTA1:p.Thr79Ala ACTA1:c.253G>A protEffect ACTA1:p.Glu85Lys ACTA1:c.282C>G protEffect ACTA1:p.Asn94Lys ACTA1:c.287T>C protEffect ACTA1:p.Leu96Pro ACTA1:c.324C>A protEffect ACTA1:p.Thr108Thr ACTA1:c.327G>C protEffect ACTA1:p.Glu109Asp ACTA1:c.338A>G protEffect ACTA1:p.Asn113Ser ACTA1:c.343A>G protEffect ACTA1:p.Lys115Glu ACTA1:c.346G>A protEffect ACTA1:p.Ala116Thr ACTA1:c.346G>T protEffect ACTA1:p.Ala116Ser ACTA1:c.350A>C protEffect ACTA1:p.Asn117Thr ACTA1:c.350A>G protEffect ACTA1:p.Asn117Ser ACTA1:c.353G>A protEffect ACTA1:p.Arg118His ACTA1:c.360G>T protEffect ACTA1:p.Lys120Asn ACTA1:c.365C>G protEffect ACTA1:p.Thr122Ser ACTA1:c.37G>A protEffect ACTA1:p.Asp13Asn ACTA1:c.400A>G protEffect ACTA1:p.Met134Val ACTA1:c.402G>A protEffect ACTA1:p.Met134Ile ACTA1:c.407T>C protEffect ACTA1:p.Val136Ala ACTA1:c.413T>C protEffect ACTA1:p.Ile138Thr ACTA1:c.414C>G protEffect ACTA1:p.Ile138Met ACTA1:c.417G>C protEffect ACTA1:p.Gln139His ACTA1:c.418G>C protEffect ACTA1:p.Ala140Pro ACTA1:c.419C>A protEffect ACTA1:p.Ala140Asp ACTA1:c.422T>C protEffect ACTA1:p.Val141Ala ACTA1:c.425T>C protEffect ACTA1:p.Leu142Pro ACTA1:c.430C>T protEffect ACTA1:p.Leu144Phe ACTA1:c.435C>G protEffect ACTA1:p.Tyr145Stop ACTA1:c.442G>A protEffect ACTA1:p.Gly148Ser ACTA1:c.443G>A protEffect ACTA1:p.Gly148Asp ACTA1:c.446G>A protEffect ACTA1:p.Arg149Lys ACTA1:c.449C>A protEffect ACTA1:p.Thr150Asn ACTA1:c.449C>G protEffect ACTA1:p.Thr150Ser ACTA1:c.44G>A protEffect ACTA1:p.Gly15Asp ACTA1:c.453C>A protEffect ACTA1:p.Thr151Thr ACTA1:c.455G>C protEffect ACTA1:p.Gly152Ala ACTA1:c.466G>A protEffect ACTA1:p.Asp156Asn ACTA1:c.478G>T protEffect ACTA1:p.Gly160Cys ACTA1:c.487C>G protEffect ACTA1:p.His163Asp ACTA1:c.487C>T protEffect ACTA1:p.His163Tyr ACTA1:c.493G>A protEffect ACTA1:p.Val165Met ACTA1:c.493G>C protEffect ACTA1:p.Val165Leu ACTA1:c.493G>T protEffect ACTA1:p.Val165Leu ACTA1:c.49G>C protEffect ACTA1:p.Gly17Arg ACTA1:c.515C>A protEffect ACTA1:p.Ala172Glu ACTA1:c.515C>G protEffect ACTA1:p.Ala172Gly ACTA1:c.539T>C protEffect ACTA1:p.Leu180Pro ACTA1:c.541G>A protEffect ACTA1:p.Asp181Asn ACTA1:c.541G>C protEffect ACTA1:p.Asp181His ACTA1:c.542A>G protEffect ACTA1:p.Asp181Gly ACTA1:c.547G>A protEffect ACTA1:p.Ala183Thr ACTA1:c.549G>A protEffect ACTA1:p.Ala183Ala ACTA1:c.551G>A protEffect ACTA1:p.Gly184Asp ACTA1:c.553C>A protEffect ACTA1:p.Arg185Ser ACTA1:c.553C>G protEffect ACTA1:p.Arg185Gly ACTA1:c.553C>T protEffect ACTA1:p.Arg185Cys ACTA1:c.554G>T protEffect ACTA1:p.Arg185Leu ACTA1:c.556G>C protEffect ACTA1:p.Asp186His ACTA1:c.557A>G protEffect ACTA1:p.Asp186Gly ACTA1:c.570C>A protEffect ACTA1:p.Tyr190Stop ACTA1:c.579G>T protEffect ACTA1:p.Lys193Asn ACTA1:c.586A>C protEffect ACTA1:p.Thr196Pro ACTA1:c.592C>A protEffect ACTA1:p.Arg198Ser ACTA1:c.592C>T protEffect ACTA1:p.Arg198Cys ACTA1:c.593G>A protEffect ACTA1:p.Arg198His ACTA1:c.593G>T protEffect ACTA1:p.Arg198Leu ACTA1:c.595G>A protEffect ACTA1:p.Gly199Ser ACTA1:c.599A>G protEffect ACTA1:p.Tyr200Cys ACTA1:c.616G>A protEffect ACTA1:p.Ala206Thr ACTA1:c.620A>G protEffect ACTA1:p.Glu207Gly ACTA1:c.621G>C protEffect ACTA1:p.Glu207Asp ACTA1:c.627G>C protEffect ACTA1:p.Glu209Asp ACTA1:c.649A>T protEffect ACTA1:p.Lys217Stop ACTA1:c.668T>C protEffect ACTA1:p.Leu223Pro ACTA1:c.676G>C protEffect ACTA1:p.Glu226Gln ACTA1:c.677A>G protEffect ACTA1:p.Glu226Gly ACTA1:c.682G>C protEffect ACTA1:p.Glu228Gln ACTA1:c.685A>G protEffect ACTA1:p.Met229Val ACTA1:c.686T>C protEffect ACTA1:p.Met229Thr ACTA1:c.687G>A protEffect ACTA1:p.Met229Ile ACTA1:c.687G>C protEffect ACTA1:p.Met229Ile ACTA1:c.687G>T protEffect ACTA1:p.Met229Ile ACTA1:c.695C>T protEffect ACTA1:p.Ala232Val ACTA1:c.715G>A protEffect ACTA1:p.Glu239Lys ACTA1:c.715G>T protEffect ACTA1:p.Glu239Stop ACTA1:c.727G>A protEffect ACTA1:p.Glu243Lys ACTA1:c.738C>A protEffect ACTA1:p.Asp246Glu ACTA1:c.739G>C protEffect ACTA1:p.Gly247Arg ACTA1:c.742C>A protEffect ACTA1:p.Gln248Lys ACTA1:c.743A>G protEffect ACTA1:p.Gln248Arg ACTA1:c.758G>A protEffect ACTA1:p.Gly253Asp ACTA1:c.760A>T protEffect ACTA1:p.Asn254Tyr ACTA1:c.764A>G protEffect ACTA1:p.Glu255Gly ACTA1:c.770T>G protEffect ACTA1:p.Phe257Cys ACTA1:c.773G>A protEffect ACTA1:p.Arg258His ACTA1:c.773G>T protEffect ACTA1:p.Arg258Leu ACTA1:c.782A>T protEffect ACTA1:p.Glu261Val ACTA1:c.794A>T protEffect ACTA1:p.Gln265Leu ACTA1:c.796C>A protEffect ACTA1:p.Pro266Thr ACTA1:c.79G>A protEffect ACTA1:p.Asp27Asn ACTA1:c.7G>T protEffect ACTA1:p.Asp3Tyr ACTA1:c.800C>G protEffect ACTA1:p.Ser267Cys ACTA1:c.802T>C protEffect ACTA1:p.Phe268Leu ACTA1:c.808G>A protEffect ACTA1:p.Gly270Ser ACTA1:c.808G>C protEffect ACTA1:p.Gly270Arg ACTA1:c.808G>T protEffect ACTA1:p.Gly270Cys ACTA1:c.809G>A protEffect ACTA1:p.Gly270Asp ACTA1:c.812T>G protEffect ACTA1:p.Met271Arg ACTA1:c.814G>C protEffect ACTA1:p.Glu272Gln ACTA1:c.821C>A protEffect ACTA1:p.Ala274Glu ACTA1:c.841T>C protEffect ACTA1:p.Tyr281His ACTA1:c.846C>G protEffect ACTA1:p.Asn282Lys ACTA1:c.854T>A protEffect ACTA1:p.Met285Lys ACTA1:c.854T>G protEffect ACTA1:p.Met285Arg ACTA1:c.863A>G protEffect ACTA1:p.Asp288Gly ACTA1:c.868G>A protEffect ACTA1:p.Asp290Asn ACTA1:c.871A>T protEffect ACTA1:p.Ile291Phe ACTA1:c.880G>T protEffect ACTA1:p.Asp294Tyr ACTA1:c.881A>T protEffect ACTA1:p.Asp294Val ACTA1:c.89G>A protEffect ACTA1:p.Arg30Lys ACTA1:c.902T>A protEffect ACTA1:p.Met301Lys ACTA1:c.984G>C protEffect ACTA1:p.Lys328Asn ACTA1:c.996C>A protEffect ACTA1:p.Ile332Ile CAPN3:c.1000C>T protEffect CAPN3:p.His334Tyr CAPN3:c.1001A>T protEffect CAPN3:p.His334Leu CAPN3:c.1002C>G protEffect CAPN3:p.His334Gln CAPN3:c.1006T>A protEffect CAPN3:p.Tyr336Asn CAPN3:c.1034C>T protEffect CAPN3:p.Pro345Leu CAPN3:c.1058T>C protEffect CAPN3:p.Leu353Pro CAPN3:c.1061T>C protEffect CAPN3:p.Val354Ala CAPN3:c.1061T>G protEffect CAPN3:p.Val354Gly CAPN3:c.1063C>G protEffect CAPN3:p.Arg355Gly CAPN3:c.1063C>T protEffect CAPN3:p.Arg355Trp CAPN3:c.1069C>T protEffect CAPN3:p.Arg357Trp CAPN3:c.1070G>A protEffect CAPN3:p.Arg357Gln CAPN3:c.1076C>T protEffect CAPN3:p.Pro359Leu CAPN3:c.1079G>A protEffect CAPN3:p.Trp360Stop CAPN3:c.1080G>C protEffect CAPN3:p.Trp360Cys CAPN3:c.1099G>A protEffect CAPN3:p.Gly367Ser CAPN3:c.10G>A protEffect CAPN3:p.Val4Ile CAPN3:c.1106G>A protEffect CAPN3:p.Trp369Stop CAPN3:c.1156C>T protEffect CAPN3:p.Arg386Cys CAPN3:c.1191C>G protEffect CAPN3:p.Phe397Leu CAPN3:c.1192T>C protEffect CAPN3:p.Trp398Arg CAPN3:c.1193G>C protEffect CAPN3:p.Trp398Ser CAPN3:c.1202A>G protEffect CAPN3:p.Tyr401Cys CAPN3:c.1250C>T protEffect CAPN3:p.Thr417Met CAPN3:c.1256A>G protEffect CAPN3:p.Asp419Gly CAPN3:c.1257T>G protEffect CAPN3:p.Asp419Glu CAPN3:c.1259C>A protEffect CAPN3:p.Ala420Asp CAPN3:c.1263G>A protEffect CAPN3:p.Leu421Leu CAPN3:c.1286G>A protEffect CAPN3:p.Trp429Stop CAPN3:c.1290A>G protEffect CAPN3:p.Thr430Thr CAPN3:c.1291G>A protEffect CAPN3:p.Val431Met CAPN3:c.1301A>T protEffect CAPN3:p.Asn434Ile CAPN3:c.1302C>T protEffect CAPN3:p.Asn434Asn CAPN3:c.1303G>A protEffect CAPN3:p.Glu435Lys CAPN3:c.1309C>G protEffect CAPN3:p.Arg437Gly CAPN3:c.1309C>T protEffect CAPN3:p.Arg437Cys CAPN3:c.1312T>C protEffect CAPN3:p.Trp438Arg CAPN3:c.1318C>T protEffect CAPN3:p.Arg440Trp CAPN3:c.1319G>A protEffect CAPN3:p.Arg440Gln CAPN3:c.1322G>A protEffect CAPN3:p.Gly441Asp CAPN3:c.1328C>T protEffect CAPN3:p.Ser443Phe CAPN3:c.1333G>A protEffect CAPN3:p.Gly445Arg CAPN3:c.1336G>A protEffect CAPN3:p.Gly446Ser CAPN3:c.1339T>C protEffect CAPN3:p.Cys447Arg CAPN3:c.133G>A protEffect CAPN3:p.Ala45Thr CAPN3:c.1342C>G protEffect CAPN3:p.Arg448Gly CAPN3:c.1342C>T protEffect CAPN3:p.Arg448Cys CAPN3:c.1343G>A protEffect CAPN3:p.Arg448His CAPN3:c.1345A>C protEffect CAPN3:p.Asn449His CAPN3:c.1354G>C protEffect CAPN3:p.Asp452His CAPN3:c.1361T>C protEffect CAPN3:p.Phe454Ser CAPN3:c.1381C>T protEffect CAPN3:p.Arg461Cys CAPN3:c.1385T>G protEffect CAPN3:p.Leu462Arg CAPN3:c.1435A>G protEffect CAPN3:p.Ser479Gly CAPN3:c.143G>A protEffect CAPN3:p.Ser48Asn CAPN3:c.1448C>A protEffect CAPN3:p.Ala483Asp CAPN3:c.1450C>A protEffect CAPN3:p.Leu484Met CAPN3:c.1456C>G protEffect CAPN3:p.Gln486Glu CAPN3:c.145C>T protEffect CAPN3:p.Arg49Cys CAPN3:c.1465C>T protEffect CAPN3:p.Arg489Trp CAPN3:c.1466G>A protEffect CAPN3:p.Arg489Gln CAPN3:c.1468C>T protEffect CAPN3:p.Arg490Trp CAPN3:c.1469G>A protEffect CAPN3:p.Arg490Gln CAPN3:c.146G>A protEffect CAPN3:p.Arg49His CAPN3:c.1477C>G protEffect CAPN3:p.Arg493Gly CAPN3:c.1477C>T protEffect CAPN3:p.Arg493Trp CAPN3:c.1486G>A protEffect CAPN3:p.Gly496Arg CAPN3:c.149A>G protEffect CAPN3:p.Asn50Ser CAPN3:c.1505T>C protEffect CAPN3:p.Ile502Thr CAPN3:c.1524G>A protEffect CAPN3:p.Glu508Glu CAPN3:c.1542C>T protEffect CAPN3:p.His514His CAPN3:c.1566G>A protEffect CAPN3:p.Lys522Lys CAPN3:c.1567G>A protEffect CAPN3:p.Asp523Asn CAPN3:c.1574T>C protEffect CAPN3:p.Phe525Ser CAPN3:c.1610A>G protEffect CAPN3:p.Tyr537Cys CAPN3:c.1611C>A protEffect CAPN3:p.Tyr537Stop CAPN3:c.1621C>T protEffect CAPN3:p.Arg541Trp CAPN3:c.1622G>A protEffect CAPN3:p.Arg541Gln CAPN3:c.163G>A protEffect CAPN3:p.Gly55Arg CAPN3:c.1641C>A protEffect CAPN3:p.Phe547Leu CAPN3:c.1657G>A protEffect CAPN3:p.Glu553Lys CAPN3:c.1662C>G protEffect CAPN3:p.Tyr554Stop CAPN3:c.1663G>A protEffect CAPN3:p.Val555Ile CAPN3:c.1667T>C protEffect CAPN3:p.Ile556Thr CAPN3:c.1668C>T protEffect CAPN3:p.Ile556Ile CAPN3:c.1694A>C protEffect CAPN3:p.Gln565Pro CAPN3:c.1699G>T protEffect CAPN3:p.Gly567Trp CAPN3:c.1706T>C protEffect CAPN3:p.Phe569Ser CAPN3:c.1714C>T protEffect CAPN3:p.Arg572Trp CAPN3:c.1715G>A protEffect CAPN3:p.Arg572Gln CAPN3:c.1715G>C protEffect CAPN3:p.Arg572Pro CAPN3:c.1742C>G protEffect CAPN3:p.Ser581Cys CAPN3:c.1817C>T protEffect CAPN3:p.Ser606Leu CAPN3:c.1823G>A protEffect CAPN3:p.Arg608Lys CAPN3:c.1826C>A protEffect CAPN3:p.Ala609Glu CAPN3:c.1855C>T protEffect CAPN3:p.Gln619Stop CAPN3:c.1865A>C protEffect CAPN3:p.Glu622Ala CAPN3:c.1872C>T protEffect CAPN3:p.Gly624Gly CAPN3:c.1897C>T protEffect CAPN3:p.Gln633Stop CAPN3:c.1913A>C protEffect CAPN3:p.Gln638Pro CAPN3:c.1939G>T protEffect CAPN3:p.Glu647Stop CAPN3:c.193C>G protEffect CAPN3:p.His65Asp CAPN3:c.1979A>G protEffect CAPN3:p.Gln660Arg CAPN3:c.1984G>T protEffect CAPN3:p.Ala662Ser CAPN3:c.2005T>A protEffect CAPN3:p.Cys669Ser CAPN3:c.2019C>G protEffect CAPN3:p.Leu673Leu CAPN3:c.206T>C protEffect CAPN3:p.Leu69Pro CAPN3:c.2077A>C protEffect CAPN3:p.Thr693Pro CAPN3:c.2092C>A protEffect CAPN3:p.Arg698Ser CAPN3:c.2092C>T protEffect CAPN3:p.Arg698Cys CAPN3:c.2093G>C protEffect CAPN3:p.Arg698Pro CAPN3:c.2105C>A protEffect CAPN3:p.Ala702Glu CAPN3:c.2105C>T protEffect CAPN3:p.Ala702Val CAPN3:c.2113G>C protEffect CAPN3:p.Asp705His CAPN3:c.2114A>G protEffect CAPN3:p.Asp705Gly CAPN3:c.2117C>A protEffect CAPN3:p.Thr706Lys CAPN3:c.2120A>G protEffect CAPN3:p.Asp707Gly CAPN3:c.2134C>T protEffect CAPN3:p.Leu712Phe CAPN3:c.2148G>T protEffect CAPN3:p.Glu716Asp CAPN3:c.2182C>T protEffect CAPN3:p.Gln728Stop CAPN3:c.2184G>A protEffect CAPN3:p.Gln728Gln CAPN3:c.2192T>C protEffect CAPN3:p.Phe731Ser CAPN3:c.2212C>T protEffect CAPN3:p.Gln738Stop CAPN3:c.2230A>G protEffect CAPN3:p.Ser744Gly CAPN3:c.2231G>C protEffect CAPN3:p.Ser744Thr CAPN3:c.2235C>G protEffect CAPN3:p.Tyr745Stop CAPN3:c.2235C>T protEffect CAPN3:p.Tyr745Tyr CAPN3:c.2242C>T protEffect CAPN3:p.Arg748Stop CAPN3:c.2243G>A protEffect CAPN3:p.Arg748Gln CAPN3:c.2245A>C protEffect CAPN3:p.Asn749His CAPN3:c.224A>G protEffect CAPN3:p.Tyr75Cys CAPN3:c.2257G>A protEffect CAPN3:p.Asp753Asn CAPN3:c.2269C>G protEffect CAPN3:p.His757Asp CAPN3:c.2288A>G protEffect CAPN3:p.Tyr763Cys CAPN3:c.2292C>T protEffect CAPN3:p.Asp764Asp CAPN3:c.229G>A protEffect CAPN3:p.Asp77Asn CAPN3:c.2306G>A protEffect CAPN3:p.Arg769Gln CAPN3:c.2306G>C protEffect CAPN3:p.Arg769Pro CAPN3:c.2320C>G protEffect CAPN3:p.His774Asp CAPN3:c.232C>A protEffect CAPN3:p.Pro78Thr CAPN3:c.2330T>C protEffect CAPN3:p.Ile777Thr CAPN3:c.2332G>A protEffect CAPN3:p.Asp778Asn CAPN3:c.2335T>A protEffect CAPN3:p.Phe779Ile CAPN3:c.2338G>C protEffect CAPN3:p.Asp780His CAPN3:c.2371G>A protEffect CAPN3:p.Gly791Ser CAPN3:c.2371G>T protEffect CAPN3:p.Gly791Cys CAPN3:c.2376G>A protEffect CAPN3:p.Met792Ile CAPN3:c.2390A>C protEffect CAPN3:p.His797Pro CAPN3:c.2393C>A protEffect CAPN3:p.Ala798Glu CAPN3:c.240C>G protEffect CAPN3:p.Phe80Leu CAPN3:c.2420T>C protEffect CAPN3:p.Ile807Thr CAPN3:c.2433T>C protEffect CAPN3:p.Val811Val CAPN3:c.2442G>A protEffect CAPN3:p.Trp814Stop CAPN3:c.245C>T protEffect CAPN3:p.Pro82Leu CAPN3:c.2464T>C protEffect CAPN3:p.Stop822Arg CAPN3:c.246G>A protEffect CAPN3:p.Pro82Pro CAPN3:c.257C>T protEffect CAPN3:p.Ser86Phe CAPN3:c.259C>G protEffect CAPN3:p.Leu87Val CAPN3:c.291C>A protEffect CAPN3:p.Phe97Leu CAPN3:c.292G>A protEffect CAPN3:p.Val98Ile CAPN3:c.302G>A protEffect CAPN3:p.Arg101Lys CAPN3:c.304C>T protEffect CAPN3:p.Pro102Ser CAPN3:c.308C>T protEffect CAPN3:p.Pro103Leu CAPN3:c.309G>A protEffect CAPN3:p.Pro103Pro CAPN3:c.318C>T protEffect CAPN3:p.Cys106Cys CAPN3:c.319G>A protEffect CAPN3:p.Glu107Lys CAPN3:c.328C>T protEffect CAPN3:p.Arg110Stop CAPN3:c.332T>C protEffect CAPN3:p.Phe111Ser CAPN3:c.352A>G protEffect CAPN3:p.Arg118Gly CAPN3:c.358G>A protEffect CAPN3:p.Asp120Asn CAPN3:c.363C>G protEffect CAPN3:p.Ile121Met CAPN3:c.389G>C protEffect CAPN3:p.Trp130Ser CAPN3:c.390G>C protEffect CAPN3:p.Trp130Cys CAPN3:c.398C>T protEffect CAPN3:p.Ala133Val CAPN3:c.399A>G protEffect CAPN3:p.Ala133Ala CAPN3:c.409T>C protEffect CAPN3:p.Cys137Arg CAPN3:c.413T>C protEffect CAPN3:p.Leu138Pro CAPN3:c.416C>T protEffect CAPN3:p.Thr139Ile CAPN3:c.424C>T protEffect CAPN3:p.Gln142Stop CAPN3:c.440G>A protEffect CAPN3:p.Arg147Gln CAPN3:c.440G>C protEffect CAPN3:p.Arg147Pro CAPN3:c.477C>T protEffect CAPN3:p.Tyr159Tyr CAPN3:c.478G>C protEffect CAPN3:p.Ala160Pro CAPN3:c.479C>A protEffect CAPN3:p.Ala160Glu CAPN3:c.479C>G protEffect CAPN3:p.Ala160Gly CAPN3:c.484A>C protEffect CAPN3:p.Ile162Leu CAPN3:c.495C>G protEffect CAPN3:p.Phe165Leu CAPN3:c.495C>T protEffect CAPN3:p.Phe165Phe CAPN3:c.498G>A protEffect CAPN3:p.Gln166Gln CAPN3:c.502T>C protEffect CAPN3:p.Trp168Arg CAPN3:c.505C>G protEffect CAPN3:p.Arg169Gly CAPN3:c.505C>T protEffect CAPN3:p.Arg169Cys CAPN3:c.506G>A protEffect CAPN3:p.Arg169His CAPN3:c.509A>G protEffect CAPN3:p.Tyr170Cys CAPN3:c.510T>G protEffect CAPN3:p.Tyr170Stop CAPN3:c.527T>C protEffect CAPN3:p.Val176Ala CAPN3:c.533T>C protEffect CAPN3:p.Ile178Thr CAPN3:c.535G>C protEffect CAPN3:p.Asp179His CAPN3:c.539A>C protEffect CAPN3:p.Asp180Ala CAPN3:c.545T>A protEffect CAPN3:p.Leu182Gln CAPN3:c.548C>G protEffect CAPN3:p.Pro183Arg CAPN3:c.548C>T protEffect CAPN3:p.Pro183Leu CAPN3:c.551C>T protEffect CAPN3:p.Thr184Met CAPN3:c.565C>G protEffect CAPN3:p.Leu189Val CAPN3:c.566T>C protEffect CAPN3:p.Leu189Pro CAPN3:c.575C>T protEffect CAPN3:p.Thr192Ile CAPN3:c.581C>G protEffect CAPN3:p.Ser194Cys CAPN3:c.590G>A protEffect CAPN3:p.Arg197His CAPN3:c.590G>T protEffect CAPN3:p.Arg197Leu CAPN3:c.593A>G protEffect CAPN3:p.Asn198Ser CAPN3:c.595G>C protEffect CAPN3:p.Glu199Gln CAPN3:c.601T>A protEffect CAPN3:p.Trp201Arg CAPN3:c.606T>C protEffect CAPN3:p.Ser202Ser CAPN3:c.610C>G protEffect CAPN3:p.Leu204Val CAPN3:c.616G>A protEffect CAPN3:p.Glu206Lys CAPN3:c.620A>C protEffect CAPN3:p.Lys207Thr CAPN3:c.62G>A protEffect CAPN3:p.Gly21Glu CAPN3:c.631A>G protEffect CAPN3:p.Lys211Glu CAPN3:c.633G>C protEffect CAPN3:p.Lys211Asn CAPN3:c.633G>T protEffect CAPN3:p.Lys211Asn CAPN3:c.637C>T protEffect CAPN3:p.His213Tyr CAPN3:c.638A>G protEffect CAPN3:p.His213Arg CAPN3:c.640G>A protEffect CAPN3:p.Gly214Ser CAPN3:c.643T>C protEffect CAPN3:p.Ser215Pro CAPN3:c.649G>A protEffect CAPN3:p.Glu217Lys CAPN3:c.662G>T protEffect CAPN3:p.Gly221Val CAPN3:c.664G>A protEffect CAPN3:p.Gly222Arg CAPN3:c.674C>G protEffect CAPN3:p.Thr225Arg CAPN3:c.676G>A protEffect CAPN3:p.Glu226Lys CAPN3:c.689A>G protEffect CAPN3:p.Asp230Gly CAPN3:c.695C>T protEffect CAPN3:p.Thr232Ile CAPN3:c.697G>C protEffect CAPN3:p.Gly233Arg CAPN3:c.698G>T protEffect CAPN3:p.Gly233Val CAPN3:c.701G>A protEffect CAPN3:p.Gly234Glu CAPN3:c.706G>A protEffect CAPN3:p.Ala236Thr CAPN3:c.739G>A protEffect CAPN3:p.Asp247Asn CAPN3:c.743T>G protEffect CAPN3:p.Met248Arg CAPN3:c.747C>G protEffect CAPN3:p.Tyr249Stop CAPN3:c.755T>A protEffect CAPN3:p.Met252Lys CAPN3:c.755T>C protEffect CAPN3:p.Met252Thr CAPN3:c.755T>G protEffect CAPN3:p.Met252Arg CAPN3:c.760A>G protEffect CAPN3:p.Lys254Glu CAPN3:c.763G>C protEffect CAPN3:p.Ala255Pro CAPN3:c.769G>T protEffect CAPN3:p.Glu257Stop CAPN3:c.779C>T protEffect CAPN3:p.Ser260Phe CAPN3:c.77C>T protEffect CAPN3:p.Pro26Leu CAPN3:c.788G>A protEffect CAPN3:p.Gly263Asp CAPN3:c.791G>A protEffect CAPN3:p.Cys264Tyr CAPN3:c.798T>C protEffect CAPN3:p.Ile266Ile CAPN3:c.817A>G protEffect CAPN3:p.Thr273Ala CAPN3:c.822T>G protEffect CAPN3:p.Tyr274Stop CAPN3:c.847A>G protEffect CAPN3:p.Met283Val CAPN3:c.848T>C protEffect CAPN3:p.Met283Thr CAPN3:c.865C>T protEffect CAPN3:p.Arg289Trp CAPN3:c.898C>T protEffect CAPN3:p.Gln300Stop CAPN3:c.8C>A protEffect CAPN3:p.Thr3Asn CAPN3:c.956C>T protEffect CAPN3:p.Pro319Leu CAPN3:c.958G>T protEffect CAPN3:p.Val320Phe CAPN3:c.964T>C protEffect CAPN3:p.Tyr322His CAPN3:c.966T>A protEffect CAPN3:p.Tyr322Stop CAPN3:c.967G>T protEffect CAPN3:p.Glu323Stop CAPN3:c.96T>C protEffect CAPN3:p.Thr32Thr CAPN3:c.984C>A protEffect CAPN3:p.Cys328Stop CAPN3:c.984C>T protEffect CAPN3:p.Cys328Cys CAPN3:c.985G>A protEffect CAPN3:p.Gly329Arg CAPN3:c.998G>A protEffect CAPN3:p.Gly333Asp CAPN3:c.9C>T protEffect CAPN3:p.Thr3Thr CAV3:c.100G>A protEffect CAV3:p.Glu34Lys CAV3:c.123T>C protEffect CAV3:p.Phe41Phe CAV3:c.131T>A protEffect CAV3:p.Val44Glu CAV3:c.136G>A protEffect CAV3:p.Ala46Thr CAV3:c.136G>T protEffect CAV3:p.Ala46Ser CAV3:c.137C>A protEffect CAV3:p.Ala46Glu CAV3:c.137C>T protEffect CAV3:p.Ala46Val CAV3:c.139G>A protEffect CAV3:p.Glu47Lys CAV3:c.140A>C protEffect CAV3:p.Glu47Ala CAV3:c.141G>T protEffect CAV3:p.Glu47Asp CAV3:c.157A>G protEffect CAV3:p.Ser53Gly CAV3:c.158G>A protEffect CAV3:p.Ser53Asn CAV3:c.166G>A protEffect CAV3:p.Gly56Ser CAV3:c.168C>A protEffect CAV3:p.Gly56Gly CAV3:c.169G>A protEffect CAV3:p.Val57Met CAV3:c.170T>G protEffect CAV3:p.Val57Gly CAV3:c.171G>A protEffect CAV3:p.Val57Val CAV3:c.172T>C protEffect CAV3:p.Trp58Arg CAV3:c.183C>A protEffect CAV3:p.Ser61Arg CAV3:c.190A>C protEffect CAV3:p.Thr64Pro CAV3:c.191C>G protEffect CAV3:p.Thr64Ser CAV3:c.204C>A protEffect CAV3:p.Ser68Ser CAV3:c.212G>A protEffect CAV3:p.Trp71Stop CAV3:c.216C>G protEffect CAV3:p.Cys72Trp CAV3:c.218A>G protEffect CAV3:p.Tyr73Cys CAV3:c.233C>T protEffect CAV3:p.Thr78Met CAV3:c.236T>G protEffect CAV3:p.Leu79Arg CAV3:c.253G>A protEffect CAV3:p.Ala85Thr CAV3:c.260T>C protEffect CAV3:p.Leu87Pro CAV3:c.277G>A protEffect CAV3:p.Ala93Thr CAV3:c.27C>T protEffect CAV3:p.Leu9Leu CAV3:c.290T>G protEffect CAV3:p.Phe97Cys CAV3:c.298A>T protEffect CAV3:p.Ile100Phe CAV3:c.301T>C protEffect CAV3:p.Trp101Arg CAV3:c.314C>T protEffect CAV3:p.Pro105Leu CAV3:c.377G>A protEffect CAV3:p.Arg126His CAV3:c.40G>C protEffect CAV3:p.Val14Leu CAV3:c.423C>G protEffect CAV3:p.Ser141Arg CAV3:c.79C>G protEffect CAV3:p.Arg27Gly CAV3:c.80G>A protEffect CAV3:p.Arg27Gln CAV3:c.80G>C protEffect CAV3:p.Arg27Pro CAV3:c.84C>A protEffect CAV3:p.Asp28Glu CAV3:c.85C>A protEffect CAV3:p.Pro29Thr CAV3:c.86C>T protEffect CAV3:p.Pro29Leu CAV3:c.99C>G protEffect CAV3:p.Asn33Lys CAV3:c.99C>T protEffect CAV3:p.Asn33Asn CFL2:c.103G>A protEffect CFL2:p.Ala35Thr COL6A1:c.1022G>A protEffect COL6A1:p.Gly341Asp COL6A1:c.1022G>T protEffect COL6A1:p.Gly341Val COL6A1:c.1095T>C protEffect COL6A1:p.Gly365Gly COL6A1:c.1184G>T protEffect COL6A1:p.Gly395Val COL6A1:c.1712A>C protEffect COL6A1:p.Lys571Thr COL6A1:c.1977C>G protEffect COL6A1:p.Tyr659Stop COL6A1:c.2045G>A protEffect COL6A1:p.Arg682Gln COL6A1:c.235C>T protEffect COL6A1:p.Arg79Cys COL6A1:c.2424G>T protEffect COL6A1:p.Gln808His COL6A1:c.2512G>A protEffect COL6A1:p.Ala838Thr COL6A1:c.2549G>A protEffect COL6A1:p.Arg850His COL6A1:c.2667G>A protEffect COL6A1:p.Ala889Ala COL6A1:c.2669C>T protEffect COL6A1:p.Ser890Leu COL6A1:c.2670G>A protEffect COL6A1:p.Ser890Ser COL6A1:c.2796C>T protEffect COL6A1:p.Ser932Ser COL6A1:c.347G>A protEffect COL6A1:p.Ser116Asn COL6A1:c.362A>G protEffect COL6A1:p.Lys121Arg COL6A1:c.805G>A protEffect COL6A1:p.Gly269Arg COL6A1:c.815G>A protEffect COL6A1:p.Gly272Asp COL6A1:c.821C>T protEffect COL6A1:p.Pro274Leu COL6A1:c.823G>A protEffect COL6A1:p.Gly275Arg COL6A1:c.841G>A protEffect COL6A1:p.Gly281Arg COL6A1:c.842G>A protEffect COL6A1:p.Gly281Glu COL6A1:c.850G>A protEffect COL6A1:p.Gly284Arg COL6A1:c.860G>A protEffect COL6A1:p.Gly287Glu COL6A1:c.868G>A protEffect COL6A1:p.Gly290Arg COL6A1:c.868G>C protEffect COL6A1:p.Gly290Arg COL6A1:c.869G>A protEffect COL6A1:p.Gly290Glu COL6A1:c.914G>T protEffect COL6A1:p.Gly305Val COL6A2:c.1353G>C protEffect COL6A2:p.Gly451Gly COL6A2:c.1493G>A protEffect COL6A2:p.Arg498His COL6A2:c.1552C>T protEffect COL6A2:p.Pro518Ser COL6A2:c.1591G>C protEffect COL6A2:p.Gly531Arg COL6A2:c.1861G>A protEffect COL6A2:p.Asp621Asn COL6A2:c.2039G>A protEffect COL6A2:p.Arg680His COL6A2:c.2094G>A protEffect COL6A2:p.Ala698Ala COL6A2:c.2097C>T protEffect COL6A2:p.Gly699Gly COL6A2:c.2098G>A protEffect COL6A2:p.Gly700Ser COL6A2:c.2184G>A protEffect COL6A2:p.Val728Val COL6A2:c.2319C>G protEffect COL6A2:p.Tyr773Stop COL6A2:c.2329T>C protEffect COL6A2:p.Cys777Arg COL6A2:c.2351G>A protEffect COL6A2:p.Arg784His COL6A2:c.2386A>T protEffect COL6A2:p.Lys796Stop COL6A2:c.2510T>C protEffect COL6A2:p.Leu837Pro COL6A2:c.2558G>A protEffect COL6A2:p.Arg853Gln COL6A2:c.2626C>A protEffect COL6A2:p.Arg876Ser COL6A2:c.2683A>C protEffect COL6A2:p.Ser895Arg COL6A2:c.2697G>T protEffect COL6A2:p.Thr899Thr COL6A2:c.2724A>G protEffect COL6A2:p.Thr908Thr COL6A2:c.2795C>T protEffect COL6A2:p.Pro932Leu COL6A2:c.2979C>T protEffect COL6A2:p.Arg993Arg COL6A2:c.679G>A protEffect COL6A2:p.Asp227Asn COL6A2:c.777C>G protEffect COL6A2:p.Gly259Gly COL6A2:c.802G>A protEffect COL6A2:p.Gly268Ser COL6A2:c.802G>T protEffect COL6A2:p.Gly268Cys COL6A2:c.811G>A protEffect COL6A2:p.Gly271Ser COL6A2:c.847G>A protEffect COL6A2:p.Gly283Arg COL6A2:c.901G>A protEffect COL6A2:p.Gly301Ser COL6A3:c.1389C>T protEffect COL6A3:p.Ala463Ala COL6A3:c.1393C>T protEffect COL6A3:p.Arg465Stop COL6A3:c.2030G>A protEffect COL6A3:p.Arg677His COL6A3:c.3040A>G protEffect COL6A3:p.Lys1014Glu COL6A3:c.3129C>T protEffect COL6A3:p.Gly1043Gly COL6A3:c.3191G>A protEffect COL6A3:p.Arg1064Gln COL6A3:c.4156G>A protEffect COL6A3:p.Glu1386Lys COL6A3:c.4184G>A protEffect COL6A3:p.Arg1395Gln COL6A3:c.4217C>T protEffect COL6A3:p.Thr1406Met COL6A3:c.4311T>C protEffect COL6A3:p.Ile1437Ile COL6A3:c.4533G>T protEffect COL6A3:p.Gly1511Gly COL6A3:c.4727G>A protEffect COL6A3:p.Arg1576Gln COL6A3:c.5020G>A protEffect COL6A3:p.Asp1674Asn COL6A3:c.5036G>A protEffect COL6A3:p.Gly1679Glu COL6A3:c.5177T>G protEffect COL6A3:p.Leu1726Arg COL6A3:c.5953G>A protEffect COL6A3:p.Val1985Met COL6A3:c.6140G>A protEffect COL6A3:p.Gly2047Asp COL6A3:c.6166G>A protEffect COL6A3:p.Gly2056Arg COL6A3:c.6185G>A protEffect COL6A3:p.Gly2062Asp COL6A3:c.6239G>A protEffect COL6A3:p.Gly2080Asp COL6A3:c.6247G>T protEffect COL6A3:p.Gly2083Cys COL6A3:c.6369G>A protEffect COL6A3:p.Leu2123Leu COL6A3:c.6816G>A protEffect COL6A3:p.Lys2272Lys COL6A3:c.6855G>C protEffect COL6A3:p.Gly2285Gly COL6A3:c.6945C>T protEffect COL6A3:p.Phe2315Phe COL6A3:c.7024C>T protEffect COL6A3:p.Arg2342Stop COL6A3:c.7292A>T protEffect COL6A3:p.Asp2431Val COL6A3:c.7357G>A protEffect COL6A3:p.Glu2453Lys COL6A3:c.7509G>A protEffect COL6A3:p.Arg2503Arg COL6A3:c.7596G>A protEffect COL6A3:p.Lys2532Lys COL6A3:c.7842C>T protEffect COL6A3:p.Ser2614Ser COL6A3:c.7929G>A protEffect COL6A3:p.Ala2643Ala COL6A3:c.7980C>T protEffect COL6A3:p.His2660His COL6A3:c.8451A>G protEffect COL6A3:p.Pro2817Pro COL6A3:c.8491G>C protEffect COL6A3:p.Asp2831His COL6A3:c.8780T>C protEffect COL6A3:p.Met2927Thr COL6A3:c.8820G>A protEffect COL6A3:p.Thr2940Thr COL6A3:c.8822C>T protEffect COL6A3:p.Ala2941Val COL6A3:c.8962A>G protEffect COL6A3:p.Met2988Val COL6A3:c.9034G>C protEffect COL6A3:p.Ala3012Pro COL6A3:c.9206C>T protEffect COL6A3:p.Thr3069Ile COL6A3:c.9213C>T protEffect COL6A3:p.His3071His DAG1:c.1773C>T protEffect DAG1:p.Phe591Phe DAG1:c.2256C>T protEffect DAG1:p.His752His DAG1:c.41G>C protEffect DAG1:p.Trp14Ser DAG1:c.575C>T protEffect DAG1:p.Thr192Met DES:c.1009G>C protEffect DES:p.Ala337Pro DES:c.1013T>G protEffect DES:p.Leu338Arg DES:c.1014G>C protEffect DES:p.Leu338Leu DES:c.1024A>G protEffect DES:p.Asn342Asp DES:c.1034T>C protEffect DES:p.Leu345Pro DES:c.1048C>T protEffect DES:p.Arg350Trp DES:c.1049G>C protEffect DES:p.Arg350Pro DES:c.1064G>C protEffect DES:p.Arg355Pro DES:c.1069G>C protEffect DES:p.Ala357Pro DES:c.1078G>C protEffect DES:p.Ala360Pro DES:c.1099A>T protEffect DES:p.Ile367Phe DES:c.1104G>A protEffect DES:p.Ala368Ala DES:c.1109T>C protEffect DES:p.Leu370Pro DES:c.1154T>C protEffect DES:p.Leu385Pro DES:c.1166A>C protEffect DES:p.Gln389Pro DES:c.1175T>C protEffect DES:p.Leu392Pro DES:c.1178A>T protEffect DES:p.Asn393Ile DES:c.1195G>T protEffect DES:p.Asp399Tyr DES:c.1201G>A protEffect DES:p.Glu401Lys DES:c.1216C>T protEffect DES:p.Arg406Trp DES:c.1222C>T protEffect DES:p.Leu408Leu DES:c.1237G>A protEffect DES:p.Glu413Lys DES:c.1255C>T protEffect DES:p.Pro419Ser DES:c.1325C>T protEffect DES:p.Thr442Ile DES:c.1346A>C protEffect DES:p.Lys449Thr DES:c.1346A>T protEffect DES:p.Lys449Met DES:c.1353C>G protEffect DES:p.Ile451Met DES:c.1358C>T protEffect DES:p.Thr453Ile DES:c.1360C>T protEffect DES:p.Arg454Trp DES:c.1375G>A protEffect DES:p.Val459Ile DES:c.1379G>T protEffect DES:p.Ser460Ile DES:c.137C>A protEffect DES:p.Ser46Tyr DES:c.137C>T protEffect DES:p.Ser46Phe DES:c.1405G>A protEffect DES:p.Val469Met DES:c.322G>A protEffect DES:p.Glu108Lys DES:c.38C>T protEffect DES:p.Ser13Phe DES:c.408C>T protEffect DES:p.Leu136Leu DES:c.46C>T protEffect DES:p.Arg16Cys DES:c.5G>T protEffect DES:p.Ser2Ile DES:c.638C>T protEffect DES:p.Ala213Val DES:c.641A>T protEffect DES:p.Asp214Val DES:c.735G>C protEffect DES:p.Glu245Asp DES:c.828C>T protEffect DES:p.Asp276Asp DES:c.893C>T protEffect DES:p.Ser298Leu DES:c.934G>A protEffect DES:p.Asp312Asn DMD:c.10002T>G protEffect DMD:p.Tyr3334Stop DMD:c.10003G>A protEffect DMD:p.Asp3335Asn DMD:c.10003G>C protEffect DMD:p.Asp3335His DMD:c.10003G>T protEffect DMD:p.Asp3335Tyr DMD:c.10009T>C protEffect DMD:p.Cys3337Arg DMD:c.10012C>T protEffect DMD:p.Gln3338Stop DMD:c.10018T>C protEffect DMD:p.Cys3340Arg DMD:c.10019G>A protEffect DMD:p.Cys3340Tyr DMD:c.10033C>T protEffect DMD:p.Arg3345Stop DMD:c.1005G>A protEffect DMD:p.Met335Ile DMD:c.1006G>T protEffect DMD:p.Glu336Stop DMD:c.10072G>T protEffect DMD:p.Glu3358Stop DMD:c.10077T>A protEffect DMD:p.Tyr3359Stop DMD:c.10094C>G protEffect DMD:p.Ser3365Stop DMD:c.10102G>C protEffect DMD:p.Asp3368His DMD:c.10103A>G protEffect DMD:p.Asp3368Gly DMD:c.10108C>T protEffect DMD:p.Arg3370Stop DMD:c.1012G>T protEffect DMD:p.Glu338Stop DMD:c.10135A>T protEffect DMD:p.Lys3379Stop DMD:c.10141C>T protEffect DMD:p.Arg3381Stop DMD:c.10149A>C protEffect DMD:p.Lys3383Asn DMD:c.10171C>T protEffect DMD:p.Arg3391Stop DMD:c.10186C>T protEffect DMD:p.Pro3396Ser DMD:c.10202T>G protEffect DMD:p.Leu3401Stop DMD:c.10262C>T protEffect DMD:p.Ala3421Val DMD:c.10279C>T protEffect DMD:p.Gln3427Stop DMD:c.10304C>A protEffect DMD:p.Ser3435Stop DMD:c.10362T>A protEffect DMD:p.Tyr3454Stop DMD:c.10387G>T protEffect DMD:p.Glu3463Stop DMD:c.103C>T protEffect DMD:p.Gln35Stop DMD:c.10412T>A protEffect DMD:p.Leu3471Stop DMD:c.1045G>T protEffect DMD:p.Glu349Stop DMD:c.10477C>T protEffect DMD:p.Gln3493Stop DMD:c.10504G>T protEffect DMD:p.Glu3502Stop DMD:c.10543G>T protEffect DMD:p.Glu3515Stop DMD:c.1055T>G protEffect DMD:p.Leu352Stop DMD:c.10561C>A protEffect DMD:p.Gln3521Lys DMD:c.10572T>A protEffect DMD:p.Tyr3524Stop DMD:c.1057T>C protEffect DMD:p.Ser353Pro DMD:c.10588C>T protEffect DMD:p.Gln3530Stop DMD:c.1061G>A protEffect DMD:p.Trp354Stop DMD:c.10620G>A protEffect DMD:p.Pro3540Pro DMD:c.1062G>A protEffect DMD:p.Trp354Stop DMD:c.10765C>T protEffect DMD:p.Gln3589Stop DMD:c.10769T>A protEffect DMD:p.Leu3590Stop DMD:c.10783C>T protEffect DMD:p.Gln3595Stop DMD:c.10789C>T protEffect DMD:p.Leu3597Leu DMD:c.10801C>T protEffect DMD:p.Gln3601Stop DMD:c.10873C>T protEffect DMD:p.Gln3625Stop DMD:c.1087C>T protEffect DMD:p.Gln363Stop DMD:c.10888C>T protEffect DMD:p.Arg3630Stop DMD:c.10903C>T protEffect DMD:p.Gln3635Stop DMD:c.10910C>A protEffect DMD:p.Ser3637Stop DMD:c.1093C>T protEffect DMD:p.Gln365Stop DMD:c.1095A>C protEffect DMD:p.Gln365His DMD:c.10969G>T protEffect DMD:p.Glu3657Stop DMD:c.1098A>T protEffect DMD:p.Gly366Gly DMD:c.11018G>A protEffect DMD:p.Arg3673Lys DMD:c.1117G>T protEffect DMD:p.Glu373Stop DMD:c.1132C>T protEffect DMD:p.Gln378Stop DMD:c.1177C>T protEffect DMD:p.Gln393Stop DMD:c.11G>A protEffect DMD:p.Trp4Stop DMD:c.1225A>T protEffect DMD:p.Thr409Ser DMD:c.1238C>A protEffect DMD:p.Ser413Stop DMD:c.1255G>T protEffect DMD:p.Glu419Stop DMD:c.1261C>T protEffect DMD:p.Gln421Stop DMD:c.1267C>T protEffect DMD:p.Gln423Stop DMD:c.1286C>A protEffect DMD:p.Ser429Stop DMD:c.1286C>G protEffect DMD:p.Ser429Stop DMD:c.1292G>A protEffect DMD:p.Trp431Stop DMD:c.1293G>A protEffect DMD:p.Trp431Stop DMD:c.1310C>G protEffect DMD:p.Ala437Gly DMD:c.131T>G protEffect DMD:p.Leu44Arg DMD:c.1324C>T protEffect DMD:p.Gln442Stop DMD:c.1334T>G protEffect DMD:p.Leu445Stop DMD:c.1337A>G protEffect DMD:p.His446Arg DMD:c.133C>T protEffect DMD:p.Gln45Stop DMD:c.1357C>T protEffect DMD:p.Gln453Stop DMD:c.136G>T protEffect DMD:p.Asp46Tyr DMD:c.137A>T protEffect DMD:p.Asp46Val DMD:c.1388G>A protEffect DMD:p.Trp463Stop DMD:c.1426G>T protEffect DMD:p.Glu476Stop DMD:c.1429G>T protEffect DMD:p.Glu477Stop DMD:c.1438G>T protEffect DMD:p.Gly480Stop DMD:c.1465C>T protEffect DMD:p.Gln489Stop DMD:c.1471C>T protEffect DMD:p.Gln491Stop DMD:c.1474C>T protEffect DMD:p.Gln492Stop DMD:c.1489C>T protEffect DMD:p.Gln497Stop DMD:c.1512A>T protEffect DMD:p.Gln504His DMD:c.1513G>C protEffect DMD:p.Val505Leu DMD:c.1513G>T protEffect DMD:p.Val505Phe DMD:c.1554T>A protEffect DMD:p.Asp518Glu DMD:c.1555G>T protEffect DMD:p.Glu519Stop DMD:c.1580C>A protEffect DMD:p.Ala527Asp DMD:c.1594C>T protEffect DMD:p.Gln532Stop DMD:c.1602G>T protEffect DMD:p.Lys534Asn DMD:c.1609G>T protEffect DMD:p.Gly537Stop DMD:c.1615C>T protEffect DMD:p.Arg539Stop DMD:c.1616G>A protEffect DMD:p.Arg539Gln DMD:c.1619G>A protEffect DMD:p.Trp540Stop DMD:c.161T>G protEffect DMD:p.Leu54Arg DMD:c.1633A>T protEffect DMD:p.Arg545Stop DMD:c.1635A>G protEffect DMD:p.Arg545Arg DMD:c.1637G>A protEffect DMD:p.Trp546Stop DMD:c.1642G>T protEffect DMD:p.Glu548Stop DMD:c.1663C>T protEffect DMD:p.Gln555Stop DMD:c.1674T>G protEffect DMD:p.Leu558Leu DMD:c.1682G>A protEffect DMD:p.Trp561Stop DMD:c.1683G>A protEffect DMD:p.Trp561Stop DMD:c.1684C>T protEffect DMD:p.Gln562Stop DMD:c.1692T>C protEffect DMD:p.Leu564Leu DMD:c.1699G>T protEffect DMD:p.Glu567Stop DMD:c.1702C>T protEffect DMD:p.Gln568Stop DMD:c.1718C>T protEffect DMD:p.Ala573Val DMD:c.1721G>A protEffect DMD:p.Trp574Stop DMD:c.1724T>C protEffect DMD:p.Leu575Pro DMD:c.1727C>A protEffect DMD:p.Ser576Stop DMD:c.1783G>T protEffect DMD:p.Glu595Stop DMD:c.178C>T protEffect DMD:p.Gln60Stop DMD:c.1793C>G protEffect DMD:p.Ser598Stop DMD:c.1817T>G protEffect DMD:p.Leu606Stop DMD:c.1843C>T protEffect DMD:p.Gln615Stop DMD:c.1865C>G protEffect DMD:p.Ser622Stop DMD:c.1869C>T protEffect DMD:p.Leu623Leu DMD:c.1873C>T protEffect DMD:p.Gln625Stop DMD:c.1888A>G protEffect DMD:p.Thr630Ala DMD:c.1928G>A protEffect DMD:p.Trp643Stop DMD:c.1934A>G protEffect DMD:p.Asp645Gly DMD:c.193G>T protEffect DMD:p.Glu65Stop DMD:c.1952G>A protEffect DMD:p.Trp651Stop DMD:c.1961T>A protEffect DMD:p.Leu654Stop DMD:c.1961T>G protEffect DMD:p.Leu654Stop DMD:c.1966C>T protEffect DMD:p.Gln656Stop DMD:c.1973T>C protEffect DMD:p.Leu658Pro DMD:c.1975G>T protEffect DMD:p.Glu659Stop DMD:c.1990C>T protEffect DMD:p.Gln664Stop DMD:c.1999C>T protEffect DMD:p.Gln667Stop DMD:c.199G>T protEffect DMD:p.Gly67Stop DMD:c.2017C>T protEffect DMD:p.Gln673Stop DMD:c.2032C>T protEffect DMD:p.Gln678Stop DMD:c.2047G>T protEffect DMD:p.Glu683Stop DMD:c.2060C>T protEffect DMD:p.Thr687Met DMD:c.2077C>T protEffect DMD:p.Gln693Stop DMD:c.2089A>T protEffect DMD:p.Lys697Stop DMD:c.2098C>T protEffect DMD:p.Gln700Stop DMD:c.2104G>T protEffect DMD:p.Glu702Stop DMD:c.2125C>T protEffect DMD:p.Gln709Stop DMD:c.2128A>T protEffect DMD:p.Lys710Stop DMD:c.2137C>T protEffect DMD:p.Gln713Stop DMD:c.2143A>T protEffect DMD:p.Thr715Ser DMD:c.2176G>T protEffect DMD:p.Val726Phe DMD:c.2227C>T protEffect DMD:p.Gln743Stop DMD:c.2236G>T protEffect DMD:p.Glu746Stop DMD:c.2257G>T protEffect DMD:p.Glu753Stop DMD:c.2270C>G protEffect DMD:p.Ser757Stop DMD:c.2281G>T protEffect DMD:p.Glu761Stop DMD:c.2291A>G protEffect DMD:p.Asn764Ser DMD:c.2299G>T protEffect DMD:p.Glu767Stop DMD:c.22G>T protEffect DMD:p.Glu8Stop DMD:c.2302C>T protEffect DMD:p.Arg768Stop DMD:c.2308A>T protEffect DMD:p.Lys770Stop DMD:c.2314G>T protEffect DMD:p.Glu772Stop DMD:c.2317A>G protEffect DMD:p.Lys773Glu DMD:c.2317A>T protEffect DMD:p.Lys773Stop DMD:c.2353C>T protEffect DMD:p.Gln785Stop DMD:c.2365G>T protEffect DMD:p.Glu789Stop DMD:c.2368C>T protEffect DMD:p.Gln790Stop DMD:c.2370G>T protEffect DMD:p.Gln790His DMD:c.2378A>G protEffect DMD:p.Asn793Ser DMD:c.2391T>G protEffect DMD:p.Asn797Lys DMD:c.2396A>G protEffect DMD:p.Asp799Gly DMD:c.2404A>T protEffect DMD:p.Lys802Stop DMD:c.2407C>T protEffect DMD:p.Gln803Stop DMD:c.2416G>T protEffect DMD:p.Glu806Stop DMD:c.2418A>C protEffect DMD:p.Glu806Asp DMD:c.2419C>T protEffect DMD:p.Gln807Stop DMD:c.2435G>A protEffect DMD:p.Trp812Stop DMD:c.2440G>T protEffect DMD:p.Glu814Stop DMD:c.2449C>T protEffect DMD:p.Gln817Stop DMD:c.2457A>C protEffect DMD:p.Leu819Leu DMD:c.245G>C protEffect DMD:p.Arg82Pro DMD:c.2474G>A protEffect DMD:p.Trp825Stop DMD:c.2475G>A protEffect DMD:p.Trp825Stop DMD:c.2479G>T protEffect DMD:p.Glu827Stop DMD:c.2484T>G protEffect DMD:p.Tyr828Stop DMD:c.2485C>T protEffect DMD:p.Gln829Stop DMD:c.2490C>T protEffect DMD:p.Asn830Asn DMD:c.2512C>T protEffect DMD:p.Gln838Stop DMD:c.2521C>T protEffect DMD:p.Gln841Stop DMD:c.2527G>T protEffect DMD:p.Glu843Stop DMD:c.2530C>T protEffect DMD:p.Gln844Stop DMD:c.253C>T protEffect DMD:p.Gln85Stop DMD:c.2558T>A protEffect DMD:p.Leu853Stop DMD:c.2566C>T protEffect DMD:p.Gln856Stop DMD:c.2582C>G protEffect DMD:p.Ser861Stop DMD:c.2602A>G protEffect DMD:p.Ser868Gly DMD:c.2605C>T protEffect DMD:p.Gln869Stop DMD:c.2611A>T protEffect DMD:p.Lys871Stop DMD:c.2622G>C protEffect DMD:p.Lys874Asn DMD:c.2645G>A protEffect DMD:p.Gly882Asp DMD:c.2650C>T protEffect DMD:p.Gln884Stop DMD:c.2665C>T protEffect DMD:p.Arg889Stop DMD:c.2669T>G protEffect DMD:p.Leu890Stop DMD:c.2671A>T protEffect DMD:p.Lys891Stop DMD:c.2677C>T protEffect DMD:p.Gln893Stop DMD:c.2701G>T protEffect DMD:p.Gly901Stop DMD:c.2707G>T protEffect DMD:p.Gly903Stop DMD:c.272T>A protEffect DMD:p.Leu91Stop DMD:c.2755A>T protEffect DMD:p.Lys919Stop DMD:c.2758C>T protEffect DMD:p.Gln920Stop DMD:c.2762T>C protEffect DMD:p.Val921Ala DMD:c.2776C>T protEffect DMD:p.Gln926Stop DMD:c.2788A>T protEffect DMD:p.Lys930Stop DMD:c.2791G>T protEffect DMD:p.Glu931Stop DMD:c.2795T>C protEffect DMD:p.Leu932Pro DMD:c.2797C>T protEffect DMD:p.Gln933Stop DMD:c.2833C>T protEffect DMD:p.Gln945Stop DMD:c.2836G>T protEffect DMD:p.Glu946Stop DMD:c.2862G>A protEffect DMD:p.Trp954Stop DMD:c.2866C>T protEffect DMD:p.Gln956Stop DMD:c.2869C>T protEffect DMD:p.Gln957Stop DMD:c.2873C>G protEffect DMD:p.Ser958Stop DMD:c.2916T>A protEffect DMD:p.Tyr972Stop DMD:c.2929C>T protEffect DMD:p.Gln977Stop DMD:c.2947C>T protEffect DMD:p.Gln983Stop DMD:c.2949G>C protEffect DMD:p.Gln983His DMD:c.2954T>A protEffect DMD:p.Leu985Stop DMD:c.2956C>T protEffect DMD:p.Gln986Stop DMD:c.2968C>T protEffect DMD:p.Gln990Stop DMD:c.2971G>C protEffect DMD:p.Glu991Gln DMD:c.2971G>T protEffect DMD:p.Glu991Stop DMD:c.2974C>T protEffect DMD:p.Gln992Stop DMD:c.2991C>G protEffect DMD:p.Tyr997Stop DMD:c.2994T>A protEffect DMD:p.Tyr998Stop DMD:c.3021G>A protEffect DMD:p.Ser1007Ser DMD:c.3030G>T protEffect DMD:p.Ala1010Ala DMD:c.3049A>T protEffect DMD:p.Lys1017Stop DMD:c.3054T>G protEffect DMD:p.Tyr1018Stop DMD:c.3059C>G protEffect DMD:p.Ser1020Stop DMD:c.3061G>T protEffect DMD:p.Glu1021Stop DMD:c.3067G>T protEffect DMD:p.Glu1023Stop DMD:c.3076G>T protEffect DMD:p.Glu1026Stop DMD:c.3086G>A protEffect DMD:p.Trp1029Stop DMD:c.3087G>A protEffect DMD:p.Trp1029Stop DMD:c.3103C>T protEffect DMD:p.Gln1035Stop DMD:c.3121C>T protEffect DMD:p.Gln1041Stop DMD:c.3136C>T protEffect DMD:p.Gln1046Stop DMD:c.313A>T protEffect DMD:p.Lys105Stop DMD:c.3151C>T protEffect DMD:p.Arg1051Stop DMD:c.3188G>A protEffect DMD:p.Trp1063Stop DMD:c.3196G>T protEffect DMD:p.Glu1066Stop DMD:c.3217G>T protEffect DMD:p.Glu1073Stop DMD:c.3220G>T protEffect DMD:p.Glu1074Stop DMD:c.3224G>A protEffect DMD:p.Trp1075Stop DMD:c.3244G>T protEffect DMD:p.Glu1082Stop DMD:c.3256A>T protEffect DMD:p.Lys1086Stop DMD:c.3259C>T protEffect DMD:p.Gln1087Stop DMD:c.3268C>T protEffect DMD:p.Gln1090Stop DMD:c.3274A>T protEffect DMD:p.Arg1092Stop DMD:c.3281T>G protEffect DMD:p.Leu1094Stop DMD:c.329T>A protEffect DMD:p.Leu110Stop DMD:c.3300A>C protEffect DMD:p.Thr1100Thr DMD:c.3304C>T protEffect DMD:p.Gln1102Stop DMD:c.3326A>T protEffect DMD:p.Asn1109Ile DMD:c.3337C>T protEffect DMD:p.Gln1113Stop DMD:c.3340A>T protEffect DMD:p.Lys1114Stop DMD:c.3351T>G protEffect DMD:p.Asn1117Lys DMD:c.3352G>T protEffect DMD:p.Glu1118Stop DMD:c.3392T>C protEffect DMD:p.Leu1131Pro ADM_1 commonName Ala79Val ADM_1 alias NM_000021.2:c.236C>T ADM_1 protEffect NP_000012.1:p.A79V ADM_1 disease phenotype-associated ADM_1 phenoCommon Alzheimer Disease ADM_1 comment Point mutation in coding region predicting an amino acid substitution ADM_2 commonName Ile143Thr ADM_2 alias NM_000021.2:c.428T>C ADM_2 protEffect NP_000012.1:p.I143T ADM_2 disease phenotype-associated ADM_2 phenoCommon Alzheimer Disease ADM_2 comment Point mutation in coding region predicting an amino acid substitution ADM_3 commonName Val82Leu ADM_3 alias NM_000021.2:c.244G>C ADM_3 protEffect NP_000012.1:p.V82L ADM_3 disease phenotype-associated ADM_3 phenoCommon Alzheimer Disease ADM_3 comment Point mutation in coding region predicting an amino acid substitution ADM_5 commonName Val96Phe ADM_5 alias NM_000021.2:c.286G>T ADM_5 protEffect NP_000012.1:p.V96F ADM_5 disease phenotype-associated ADM_5 phenoCommon Alzheimer Disease ADM_5 comment Point mutation in coding region predicting an amino acid substitution ADM_6 commonName Intron4; InsTAC ADM_6 alias NM_000021.2:c.338_339insTAC; c.170_338del; c.88_338del ADM_6 protEffect NP_000012.1:p.L113_I114insT; p.D31Frameshift; p.G57Frameshift ADM_6 disease phenotype-associated ADM_6 phenoCommon Alzheimer Disease ADM_6 comment "Point mutation in splice donor consensus site of intron 4 resulting in 3 different transcripts with a single-codon insertion, partial and complete deletion of exon 4 respectively, the latter 2 resulting in a frame-shift and premature stop codon." ADM_7 commonName Tyr115Cys ADM_7 alias NM_000021.2:c.344A>G ADM_7 protEffect NP_000012.1:p.Y115C ADM_7 disease phenotype-associated ADM_7 phenoCommon Alzheimer Disease ADM_7 comment Point mutation in coding region predicting an amino acid substitution ADM_8 commonName Tyr115His ADM_8 alias NM_000021.2:c.343T>C ADM_8 protEffect NP_000012.1:p.Y115H ADM_8 disease phenotype-associated ADM_8 phenoCommon Alzheimer Disease ADM_8 comment Point mutation in coding region predicting an amino acid substitution ADM_9 commonName Pro117Leu ADM_9 alias NM_000021.2:c.350C>T ADM_9 protEffect NP_000012.1:p.P117L ADM_9 disease phenotype-associated ADM_9 phenoCommon Alzheimer Disease ADM_9 comment Point mutation in coding region predicting an amino acid substitution ADM_10 commonName Glu120Asp ADM_10 alias NM_000021.2:c.360A>T ADM_10 protEffect NP_000012.1:p.E120D ADM_10 disease phenotype-associated ADM_10 phenoCommon Alzheimer Disease ADM_10 comment Point mutation in coding region predicting an amino acid substitution ADM_11 commonName Glu120Lys ADM_11 alias NM_000021.2:c.358G>A ADM_11 protEffect NP_000012.1:p.E120K ADM_11 disease phenotype-associated ADM_11 phenoCommon Alzheimer Disease ADM_11 comment Point mutation in coding region predicting an amino acid substitution ADM_12 commonName Asn135Asp ADM_12 alias NM_000021.2:c.403A>G ADM_12 protEffect NP_000012.1:p.N135D ADM_12 disease phenotype-associated ADM_12 phenoCommon Alzheimer Disease ADM_12 comment Point mutation in coding region predicting an amino acid substitution ADM_13 commonName Met139Ile ADM_13 alias NM_000021.2:c.417G>A ADM_13 protEffect NP_000012.1:p.M139I ADM_13 disease phenotype-associated ADM_13 phenoCommon Alzheimer Disease ADM_13 comment Point mutation in coding region predicting an amino acid substitution ADM_14 commonName Met139Thr ADM_14 alias NM_000021.2:c.416T>C ADM_14 protEffect NP_000012.1:p.M139T ADM_14 disease phenotype-associated ADM_14 phenoCommon Alzheimer Disease ADM_14 comment Point mutation in coding region predicting an amino acid substitution ADM_15 commonName Met139Val ADM_15 alias NM_000021.2:c.415A>G ADM_15 protEffect NP_000012.1:p.M139V ADM_15 disease phenotype-associated ADM_15 phenoCommon Alzheimer Disease / Frontotemporal Dementia ADM_15 comment Point mutation in coding region predicting an amino acid substitution ADM_16 commonName Ile143Phe ADM_16 alias NM_000021.2:c.427A>T ADM_16 protEffect NP_000012.1:p.I143F ADM_16 disease phenotype-associated ADM_16 phenoCommon Alzheimer Disease ADM_16 comment Point mutation in coding region predicting an amino acid substitution ADM_17 commonName Met146Ile ADM_17 alias NM_000021.2:c.438G>C ADM_17 protEffect NP_000012.1:p.M146I ADM_17 disease phenotype-associated ADM_17 phenoCommon Alzheimer Disease ADM_17 comment Point mutation in coding region predicting an amino acid substitution ADM_18 commonName Met146Leu ADM_18 alias NM_000021.2:c.436A>T ADM_18 protEffect NP_000012.1:p.M146L ADM_18 disease phenotype-associated ADM_18 phenoCommon Alzheimer Disease ADM_18 comment Point mutation in coding region predicting an amino acid substitution ADM_19 commonName Met146Val ADM_19 alias NM_000021.2:c.436A>G ADM_19 protEffect NP_000012.1:p.M146V ADM_19 disease phenotype-associated ADM_19 phenoCommon Alzheimer Disease ADM_19 comment Point mutation in coding region predicting an amino acid substitution ADM_20 commonName His163Arg ADM_20 alias NM_000021.2:c.488A>G ADM_20 protEffect NP_000012.1:p.H163R ADM_20 disease phenotype-associated ADM_20 phenoCommon Alzheimer Disease / Myoclonus ADM_20 comment Point mutation in coding region predicting an amino acid substitution ADM_21 commonName His163Tyr ADM_21 alias NM_000021.2:c.487C>T ADM_21 protEffect NP_000012.1:p.H163Y ADM_21 disease phenotype-associated ADM_21 phenoCommon Alzheimer Disease ADM_21 comment Point mutation in coding region predicting an amino acid substitution ADM_22 commonName Glu184Asp ADM_22 alias NM_000021.2:c.552A>C ADM_22 protEffect NP_000012.1:p.E184D ADM_22 disease phenotype-associated ADM_22 phenoCommon Alzheimer Disease ADM_22 comment Point mutation in coding region predicting an amino acid substitution ADM_23 commonName Gly209Val ADM_23 alias NM_000021.2:c.626G>T ADM_23 protEffect NP_000012.1:p.G209V ADM_23 disease phenotype-associated ADM_23 phenoCommon Alzheimer Disease ADM_23 comment Point mutation in coding region predicting an amino acid substitution ADM_24 commonName Ile213Thr ADM_24 alias NM_000021.2:c.638T>C ADM_24 protEffect NP_000012.1:p.I213T ADM_24 disease phenotype-associated ADM_24 phenoCommon Alzheimer Disease ADM_24 comment Point mutation in coding region predicting an amino acid substitution ADM_25 commonName Ala231Thr ADM_25 alias NM_000021.2:c.691G>A ADM_25 protEffect NP_000012.1:p.A231T ADM_25 disease phenotype-associated ADM_25 phenoCommon Alzheimer Disease ADM_25 comment Point mutation in coding region predicting an amino acid substitution ADM_26 commonName Ala231Val ADM_26 alias NM_000021.2:c.692C>T ADM_26 protEffect NP_000012.1:p.A231V ADM_26 disease phenotype-associated ADM_26 phenoCommon Alzheimer Disease ADM_26 comment Point mutation in coding region predicting an amino acid substitution ADM_27 commonName Met233Thr ADM_27 alias NM_000021.2:c.698T>C ADM_27 protEffect NP_000012.1:p.M233T ADM_27 disease phenotype-associated ADM_27 phenoCommon Alzheimer Disease ADM_27 comment Point mutation in coding region predicting an amino acid substitution ADM_28 commonName Leu235Pro ADM_28 alias NM_000021.2:c.704T>C ADM_28 protEffect NP_000012.1:p.L235P ADM_28 disease phenotype-associated ADM_28 phenoCommon Alzheimer Disease / Myoclonus ADM_28 comment Point mutation in coding region predicting an amino acid substitution ADM_29 commonName Ala246Glu ADM_29 alias NM_000021.2:c.737C>A ADM_29 protEffect NP_000012.1:p.A246E ADM_29 disease phenotype-associated ADM_29 phenoCommon Alzheimer Disease ADM_29 comment Point mutation in coding region predicting an amino acid substitution ADM_30 commonName Leu250Ser ADM_30 alias NM_000021.2:c.749T>C ADM_30 protEffect NP_000012.1:p.L250S ADM_30 disease phenotype-associated ADM_30 phenoCommon Alzheimer Disease ADM_30 comment Point mutation in coding region predicting an amino acid substitution ADM_31 commonName Ala260Val ADM_31 alias NM_000021.2:c.779C>T ADM_31 protEffect NP_000012.1:p.A260V ADM_31 disease phenotype-associated ADM_31 phenoCommon Alzheimer Disease ADM_31 comment Point mutation in coding region predicting an amino acid substitution ADM_32 commonName Leu262Phe ADM_32 alias NM_000021.2:c.786G>C ADM_32 protEffect NP_000012.1:p.L262F ADM_32 disease phenotype-associated ADM_32 phenoCommon Alzheimer Disease ADM_32 comment Point mutation in coding region predicting an amino acid substitution ADM_33 commonName Cys263Arg ADM_33 alias NM_000021.2:c.787T>C ADM_33 protEffect NP_000012.1:p.C263R ADM_33 disease phenotype-associated ADM_33 phenoCommon Alzheimer Disease ADM_33 comment Point mutation in coding region predicting an amino acid substitution ADM_34 commonName Pro264Leu ADM_34 alias NM_000021.2:c.791C>T ADM_34 protEffect NP_000012.1:p.P264L ADM_34 disease phenotype-associated ADM_34 phenoCommon Alzheimer Disease or Atypical Dementia / Spastic Paraparesis ADM_34 comment Point mutation in coding region predicting an amino acid substitution ADM_35 commonName Pro267Ser ADM_35 alias NM_000021.2:c.799C>T ADM_35 protEffect NP_000012.1:p.P267S ADM_35 disease phenotype-associated ADM_35 phenoCommon Alzheimer Disease ADM_35 comment Point mutation in coding region predicting an amino acid substitution ADM_36 commonName Arg269Gly ADM_36 alias NM_000021.2:c.805C>G ADM_36 protEffect NP_000012.1:p.R269G ADM_36 disease phenotype-associated ADM_36 phenoCommon Alzheimer Disease / Myoclonus ADM_36 comment Point mutation in coding region predicting an amino acid substitution ADM_37 commonName Arg269His ADM_37 alias NM_000021.2:c.806G>A ADM_37 protEffect NP_000012.1:p.R269H ADM_37 disease phenotype-associated ADM_37 phenoCommon Alzheimer Disease / Myoclonus ADM_37 comment Point mutation in coding region predicting an amino acid substitution ADM_38 commonName Arg278Thr ADM_38 alias NM_000021.2:c.833G>C ADM_38 protEffect NP_000012.1:p.R278T ADM_38 disease phenotype-associated ADM_38 phenoCommon Alzheimer Disease / Spastic Paraparesis ADM_38 comment Point mutation in coding region predicting an amino acid substitution ADM_39 commonName Glu280Ala ADM_39 alias NM_000021.2:c.839A>C ADM_39 protEffect NP_000012.1:p.E280A ADM_39 disease phenotype-associated ADM_39 phenoCommon Alzheimer Disease ADM_39 comment Point mutation in coding region predicting an amino acid substitution ADM_40 commonName Glu280Gly ADM_40 alias NM_000021.2:c.839A>G ADM_40 protEffect NP_000012.1:p.E280G ADM_40 disease phenotype-associated ADM_40 phenoCommon Alzheimer Disease / Spastic Paraparesis ADM_40 comment Point mutation in coding region predicting an amino acid substitution ADM_41 commonName Leu282Arg ADM_41 alias NM_000021.2:c.845T>G ADM_41 protEffect NP_000012.1:p.L282R ADM_41 disease phenotype-associated ADM_41 phenoCommon Alzheimer Disease ADM_41 comment Point mutation in coding region predicting an amino acid substitution ADM_42 commonName Ala285Val ADM_42 alias NM_000021.2:c.854C>T ADM_42 protEffect NP_000012.1:p.A285V ADM_42 disease phenotype-associated ADM_42 phenoCommon Alzheimer Disease ADM_42 comment Point mutation in coding region predicting an amino acid substitution ADM_43 commonName Leu286Val ADM_43 alias NM_000021.2:c.856C>G ADM_43 protEffect NP_000012.1:p.L286V ADM_43 disease phenotype-associated ADM_43 phenoCommon Alzheimer Disease ADM_43 comment Point mutation in coding region predicting an amino acid substitution ADM_44 commonName Gly378Glu ADM_44 alias NM_000021.2:c.1133G>A ADM_44 protEffect NP_000012.1:p.G378E ADM_44 disease phenotype-associated ADM_44 phenoCommon Alzheimer Disease / CAA ADM_44 comment Point mutation in coding region predicting an amino acid substitution ADM_45 commonName Gly384Ala ADM_45 alias NM_000021.2:c.1151G>C ADM_45 protEffect NP_000012.1:p.G384A ADM_45 disease phenotype-associated ADM_45 phenoCommon Alzheimer Disease ADM_45 comment Point mutation in coding region predicting an amino acid substitution ADM_46 commonName Leu392Val ADM_46 alias NM_000021.2:c.1174C>G ADM_46 protEffect NP_000012.1:p.L392V ADM_46 disease phenotype-associated ADM_46 phenoCommon Alzheimer Disease ADM_46 comment Point mutation in coding region predicting an amino acid substitution ADM_47 commonName Cys410Tyr ADM_47 alias NM_000021.2:c.1229G>A ADM_47 protEffect NP_000012.1:p.C410Y ADM_47 disease phenotype-associated ADM_47 phenoCommon Alzheimer Disease ADM_47 comment Point mutation in coding region predicting an amino acid substitution ADM_48 commonName Ala426Pro ADM_48 alias NM_000021.2:c.1276G>C ADM_48 protEffect NP_000012.1:p.A426P ADM_48 disease phenotype-associated ADM_48 phenoCommon Alzheimer Disease ADM_48 comment Point mutation in coding region predicting an amino acid substitution ADM_50 commonName Arg62His ADM_50 alias NM_000447.1:c.185G>A ADM_50 protEffect NP_000438.1:p.R62H ADM_50 phenoCommon Alzheimer Disease ADM_50 comment Point mutation in coding region predicting an amino acid substitution ADM_51 commonName Asn141Ile ADM_51 alias NM_000447.1:c.422A>T ADM_51 protEffect NP_000438.1:p.N141I ADM_51 disease phenotype-associated ADM_51 phenoCommon Alzheimer Disease ADM_51 comment Point mutation in coding region predicting an amino acid substitution ADM_52 commonName Val148Ile ADM_52 alias NM_000447.1:c.442G>A ADM_52 protEffect NP_000438.1:p.V148I ADM_52 disease phenotype-associated ADM_52 phenoCommon Alzheimer Disease ADM_52 comment Point mutation in coding region predicting an amino acid substitution ADM_53 commonName Met239Val ADM_53 alias NM_000447.1:c.715A>G ADM_53 protEffect NP_000438.1:p.M239V ADM_53 disease phenotype-associated ADM_53 phenoCommon Alzheimer Disease ADM_53 comment Point mutation in coding region predicting an amino acid substitution ADM_55 commonName APPKM670/671NL; Swedish APP ADM_55 protEffect NP_000475.1:p.[K670N;M671L] ADM_55 disease phenotype-associated ADM_55 phenoCommon Alzheimer Disease ADM_55 comment Double point mutation in coding region causing 2 adjacent amino acid changes ADM_56 commonName Ala692Gly; Flemish APP ADM_56 alias NM_000484.2:c.2018C>G ADM_56 protEffect NP_000475.1:p.A692G ADM_56 disease phenotype-associated ADM_56 phenoCommon Alzheimer Disease / Cerebral Hemorrhage ADM_56 comment Point mutation in coding region predicting an amino acid substitution ADM_57 commonName Ile716Val; Florida APP ADM_57 alias NM_000484.2:c.2146A>G ADM_57 protEffect NP_000475.1:p.I716V ADM_57 disease phenotype-associated ADM_57 phenoCommon Alzheimer Disease ADM_57 comment Point mutation in coding region predicting an amino acid substitution ADM_58 commonName Val717Gly ADM_58 alias NM_000484.2:c.2150T>G ADM_58 protEffect NP_000475.1:p.V717G ADM_58 disease phenotype-associated ADM_58 phenoCommon Alzheimer Disease ADM_58 comment Point mutation in coding region predicting an amino acid substitution ADM_59 commonName Val717Ile; London APP ADM_59 alias NM_000484.2:c.2149G>A ADM_59 protEffect NP_000475.1:p.V717I ADM_59 disease phenotype-associated ADM_59 phenoCommon Alzheimer Disease ADM_59 comment Point mutation in coding region predicting an amino acid substitution ADM_60 commonName Val717Phe ADM_60 alias NM_000484.2:c.2149G>T ADM_60 protEffect NP_000475.1:p.V717F ADM_60 disease phenotype-associated ADM_60 phenoCommon Alzheimer Disease ADM_60 comment Point mutation in coding region predicting an amino acid substitution ADM_61 commonName Leu723Pro; Australian APP ADM_61 alias NM_000484.2:c.2168T>C ADM_61 protEffect NP_000475.1:p.L723P ADM_61 disease phenotype-associated ADM_61 phenoCommon Alzheimer Disease ADM_61 comment Point mutation in coding region predicting an amino acid substitution ADM_63 commonName Δ9 ADM_63 alias NM_000021.2:c.869_955del ADM_63 protEffect NP_000012.1:p.[S290C;T291_S319del] ADM_63 disease phenotype-associated ADM_63 phenoCommon Alzheimer Disease / Spastic Paraparesis ADM_63 comment Point mutation in splice acceptor consensus of intron 8 resulting in in-frame skipping of exon 9 and an amino acid change at the splice junction of exon 8 and 10 ADM_64 commonName Δ9 ADM_64 alias NM_000021.2:c.869_955del ADM_64 protEffect NP_000012.1:p.[S290C;T291_S319del] ADM_64 disease phenotype-associated ADM_64 phenoCommon Alzheimer Disease / Spastic Paraparesis ADM_64 comment Point mutation in splice acceptor consensus of intron 8 resulting in in-frame skipping of exon 9 and an amino acid change at the splice junction of exon 8 and 10 ADM_65 commonName Δ9Finn ADM_65 alias NM_000021.2:c.869_955del ADM_65 protEffect NP_000012.1:p.[S290C;T291_S319del] ADM_65 disease phenotype-associated ADM_65 phenoCommon Alzheimer Disease / Spastic Paraparesis ADM_65 comment 4555bp genomic deletion containing exon 9 resulting in in-frame skipping of exon 9 and an amino acid change at the splice junction of exon 8 and 10 ADM_66 commonName Glu123Lys ADM_66 alias NM_000021.2:c.367G>A ADM_66 protEffect NP_000012.1:p.E123L ADM_66 disease phenotype-associated ADM_66 phenoCommon Alzheimer Disease ADM_66 comment Point mutation in coding region predicting an amino acid substitution ADM_67 commonName Glu273Ala ADM_67 alias NM_000021.2:c.818A>C ADM_67 protEffect NP_000012.1:p.E273A ADM_67 disease phenotype-associated ADM_67 phenoCommon Alzheimer Disease DMD:c.3397G>T protEffect DMD:p.Glu1133Stop ADM_67 comment Point mutation in coding region predicting an amino acid substitution ADM_68 commonName Leu171Pro ADM_68 alias NM_000021.2:c.512T>C ADM_68 protEffect NP_000012.1:p.L171P ADM_68 disease phenotype-associated ADM_68 phenoCommon Alzheimer Disease ADM_68 comment Point mutation in coding region predicting an amino acid substitution ADM_69 commonName Ser169Leu ADM_69 alias NM_000021.2:c.506C>T ADM_69 protEffect NP_000012.1:p.S169L ADM_69 disease phenotype-associated ADM_69 phenoCommon Alzheimer Disease / Myoclonus VAR_000005 commonName VAR_000005 ADM_69 comment Point mutation in coding region predicting an amino acid substitution ADM_70 commonName Pro436Gln ADM_70 alias NM_000021.2:c.1307C>A ADM_70 protEffect NP_000012.1:p.P436Q ADM_70 disease phenotype-associated ADM_70 phenoCommon Alzheimer Disease / Spastic Paraparesis ADM_70 comment Point mutation in coding region predicting an amino acid substitution ADM_71 commonName Val715Met; French APP ADM_71 alias NM_000484.2:c.2143G>A ADM_71 protEffect NP_000475.1:p.V715M ADM_71 disease phenotype-associated ADM_71 phenoCommon Alzheimer Disease ADM_71 comment Point mutation in coding region predicting an amino acid substitution ADM_72 commonName Leu219Pro ADM_72 alias NM_000021.2:c.656T>C ADM_72 protEffect NP_000012.1:p.L219P ADM_72 disease phenotype-associated ADM_72 phenoCommon Alzheimer Disease ADM_72 comment Point mutation in coding region predicting an amino acid substitution ADM_73 commonName Met233Leu ADM_73 alias NM_000021.2:c.697A>C ADM_73 protEffect NP_000012.1:p.M233L ADM_73 disease phenotype-associated ADM_73 phenoCommon Alzheimer Disease ADM_73 comment Point mutation in coding region predicting an amino acid substitution ADM_74 commonName Ala409Thr ADM_74 alias NM_000021.2:c.1225G>A ADM_74 protEffect NP_000012.1:p.A409T ADM_74 disease phenotype-associated ADM_74 phenoCommon Alzheimer Disease ADM_74 comment Point mutation in coding region predicting an amino acid substitution ADM_75 commonName Phe105Leu ADM_75 alias NM_000021.2:c.315T>G ADM_75 protEffect NP_000012.1:p.F105L ADM_75 disease phenotype-associated ADM_75 phenoCommon Alzheimer Disease ADM_75 comment Point mutation in coding region predicting an amino acid substitution ADM_76 commonName Thr122Pro ADM_76 alias NM_000447.1:c.364A>C ADM_76 protEffect NP_000438.1:p.T122P ADM_76 disease phenotype-associated ADM_76 phenoCommon Alzheimer Disease ADM_76 comment Point mutation in coding region predicting an amino acid substitution ADM_77 commonName Met239Ile ADM_77 alias NM_000447.1:c.717G>A ADM_77 protEffect NP_000438.1:p.M239I ADM_77 disease phenotype-associated ADM_77 phenoCommon Alzheimer Disease ADM_77 comment Point mutation in coding region predicting an amino acid substitution ADM_78 commonName Asn405Ser ADM_78 alias NM_000021.2:c.1214A>G ADM_78 protEffect NP_000012.1:p.N405S ADM_78 disease phenotype-associated ADM_78 phenoCommon Alzheimer Disease ADM_78 comment Point mutation in coding region predicting an amino acid substitution ADM_79 commonName Ser169Pro ADM_79 alias NM_000021.2:c.505T>C ADM_79 protEffect NP_000012.1:p.S169P ADM_79 disease phenotype-associated ADM_79 phenoCommon Alzheimer Disease / Myoclonus ADM_79 comment Point mutation in coding region predicting an amino acid substitution ADM_81 commonName Gly209Arg ADM_81 alias NM_000021.2:c.625G>A ADM_81 protEffect NP_000012.1:p.G209R ADM_81 disease phenotype-associated ADM_81 phenoCommon Alzheimer Disease ADM_81 comment Point mutation in coding region predicting an amino acid substitution ADM_82 commonName Met139Lys ADM_82 alias NM_000021.2:c.416T>A ADM_82 protEffect NP_000012.1:p.M139K ADM_82 disease phenotype-associated ADM_82 phenoCommon Alzheimer Disease ADM_82 comment Point mutation in coding region predicting an amino acid substitution ADM_83 commonName Thr147Ile ADM_83 alias NM_000021.2:c.440C>T ADM_83 protEffect NP_000012.1:p.T147I ADM_83 disease phenotype-associated ADM_83 phenoCommon Alzheimer Disease ADM_83 comment Point mutation in coding region predicting an amino acid substitution ADM_84 commonName Leu173Trp ADM_84 alias NM_000021.2:c.518T>G ADM_84 protEffect NP_000012.1:p.L173W ADM_84 disease phenotype-associated ADM_84 phenoCommon Alzheimer Disease ADM_84 comment Point mutation in coding region predicting an amino acid substitution ADM_85 commonName Trp165Cys ADM_85 alias NM_000021.2:c.495G>C ADM_85 protEffect NP_000012.1:p.W165C ADM_85 disease phenotype-associated ADM_85 phenoCommon Alzheimer Disease ADM_85 comment Point mutation in coding region predicting an amino acid substitution ADM_86 commonName Ser390Ile ADM_86 alias NM_000021.2:c.1169G>T ADM_86 protEffect NP_000012.1:p.S390I ADM_86 disease phenotype-associated ADM_86 phenoCommon Alzheimer Disease ADM_86 comment Point mutation in coding region predicting an amino acid substitution ADM_87 commonName Met146Ile ADM_87 alias NM_000021.2:c.438G>A ADM_87 protEffect NP_000012.1:p.M146I ADM_87 disease phenotype-associated ADM_87 phenoCommon Alzheimer Disease ADM_87 comment Point mutation in coding region predicting an amino acid substitution ADM_88 commonName Leu166Arg ADM_88 alias NM_000021.2:c.497T>G ADM_88 protEffect NP_000012.1:p.L166R ADM_88 disease phenotype-associated ADM_88 phenoCommon Alzheimer Disease ADM_88 comment Point mutation in coding region predicting an amino acid substitution ADM_89 commonName Pro436Ser ADM_89 alias NM_000021.2:c.1306C>T ADM_89 protEffect NP_000012.1:p.P936S ADM_89 disease phenotype-associated ADM_89 phenoCommon Alzheimer Disease ADM_89 comment Point mutation in coding region predicting an amino acid substitution ADM_90 commonName Val717Leu ADM_90 alias NM_000484.2:c.2149G>C ADM_90 protEffect NP_000475.1:p.V717L ADM_90 disease phenotype-associated ADM_90 phenoCommon Alzheimer Disease ADM_90 comment Point mutation in coding region predicting an amino acid substitution ADM_91 commonName Leu153Val ADM_91 alias NM_000021.2:c.457C>G ADM_91 protEffect NP_000012.1:p.L153V ADM_91 disease phenotype-associated ADM_91 phenoCommon Alzheimer Disease ADM_91 comment Point mutation in coding region predicting an amino acid substitution ADM_92 commonName Val261Phe ADM_92 alias NM_000021.2:c.781G>T ADM_92 protEffect NP_000012.1:p.V261F ADM_92 disease phenotype-associated ADM_92 phenoCommon Alzheimer Disease / Spastic Paraparesis ADM_92 comment Point mutation in coding region predicting an amino acid substitution ADM_93 commonName Thr116Asn ADM_93 alias NM_000021.2:c.347C>A ADM_93 protEffect NP_000012.1:p.T116N ADM_93 disease phenotype-associated ADM_93 phenoCommon Alzheimer Disease ADM_93 comment Point mutation in coding region predicting an amino acid substitution ADM_94 commonName Leu219Phe ADM_94 alias NM_000021.2:c.655C>T ADM_94 protEffect NP_000012.1:p.L219F ADM_94 disease phenotype-associated ADM_94 phenoCommon Alzheimer Disease ADM_94 comment Point mutation in coding region predicting an amino acid substitution ADM_95 commonName Val94Met ADM_95 alias NM_000021.2:c.280G>A ADM_95 protEffect NP_000012.1:p.V94M ADM_95 disease phenotype-associated ADM_95 phenoCommon Alzheimer Disease ADM_95 comment Point mutation in coding region predicting an amino acid substitution ADM_96 commonName Glu693Gly; Arctic APP ADM_96 alias NM_000484.2:c.2021A>G ADM_96 protEffect NP_000475.1:p.E693G ADM_96 disease phenotype-associated ADM_96 phenoCommon Alzheimer Disease ADM_96 comment Point mutation in coding region predicting an amino acid substitution ADM_97 commonName "Thr714Ile, Austrian APP" ADM_97 alias NM_000484.2:c.2141C>T ADM_97 protEffect NP_000475.1:p.T714I ADM_97 disease phenotype-associated ADM_97 phenoCommon Alzheimer Disease ADM_97 comment Point mutation in coding region predicting an amino acid substitution ADM_98 commonName Δ9 ADM_98 alias NM_000021.2:c.869_955del ADM_98 protEffect NP_000012.1:p.[S290C;T291_S319del] ADM_98 disease phenotype-associated ADM_98 phenoCommon Alzheimer Disease / Spastic Paraparesis ADM_98 comment 5858 bp genomic deletion containing exon 9 resulting in in-frame skipping of exon 9 and an amino acid change at the splice junction of exon 8 and 10 ADM_99 commonName Glu120Asp ADM_99 alias NM_000021.2:c.360A>C ADM_99 protEffect NP_000012.1:p.E120D ADM_99 disease phenotype-associated ADM_99 phenoCommon Alzheimer Disease ADM_99 comment Point mutation in coding region predicting an amino acid substitution ADM_100 commonName Trp165Gly ADM_100 alias NM_000021.2:c.493T>G ADM_100 protEffect NP_000012.1:p.W165G ADM_100 disease phenotype-associated ADM_100 phenoCommon Alzheimer Disease ADM_100 comment Point mutation in coding region predicting an amino acid substitution ADM_101 commonName Leu392Pro ADM_101 alias NM_000021.2:c.1175T>C ADM_101 protEffect NP_000012.1:p.L392P ADM_101 disease phenotype-associated ADM_101 phenoCommon Alzheimer Disease / Epilepsy ADM_101 comment Point mutation in coding region predicting an amino acid substitution ADM_102 commonName Leu113Pro ADM_102 alias NM_000021.2:c.338T>C ADM_102 protEffect NP_000012.1:p.L113P ADM_102 disease phenotype-associated ADM_102 phenoCommon Alzheimer Disease / Frontotemporal Dementia ADM_102 comment Point mutation in coding region predicting an amino acid substitution ADM_103 commonName ΔI83/M84 ADM_103 alias NM_000021.2:c.247_252del ADM_103 protEffect NP_000012.1:p.I83_M84del ADM_103 disease phenotype-associated ADM_103 phenoCommon Alzheimer Disease / Spastic Paraparesis ADM_103 comment Hexanucleotide deletion resulting in deletion of 2 amino acids ADM_104 commonName Ala434Cys ADM_104 protEffect NP_000012.1:p.A434C ADM_104 disease phenotype-associated ADM_104 phenoCommon Alzheimer Disease ADM_104 comment Double Point mutation in coding region predicting an amino acid substitution ADM_105 commonName Asp694Asn; Iowa APP ADM_105 alias NM_000484.2:c.2080G>A ADM_105 protEffect NP_000475.1:p.D694N ADM_105 disease phenotype-associated ADM_105 phenoCommon Alzheimer Disease / CAA / Cerebral Hemorrhage ADM_105 comment Point mutation in coding region predicting an amino acid substitution ADM_106 commonName Arg35Gln ADM_106 alias NM_000021.2:c.104G>A ADM_106 protEffect NP_000012.1:p.R35Q ADM_106 disease not phenotype-associated ADM_106 phenoCommon Alzheimer Disease ADM_106 comment Point mutation in coding region predicting an amino acid substitution ADM_107 commonName Met146Leu ADM_107 alias NM_000021.2:c.436A>C ADM_107 protEffect NP_000012.1:p.M146L ADM_107 disease phenotype-associated ADM_107 phenoCommon Alzheimer Disease / Pick Disease ADM_107 comment Point mutation in coding region predicting an amino acid substitution ADM_108 commonName Met146Ile ADM_108 alias NM_000021.2:c.438G>T ADM_108 protEffect NP_000012.1:p.M146I ADM_108 disease phenotype-associated ADM_108 phenoCommon Alzheimer Disease ADM_108 comment Point mutation in coding region predicting an amino acid substitution ADM_109 commonName InsFI ADM_109 alias NM_000021.2:c.466_467insTTATAT ADM_109 protEffect NP_000012.1:p.K155_Y156insFI ADM_109 disease phenotype-associated ADM_109 phenoCommon Alzheimer Disease / Spastic Paraparesis ADM_109 comment Insertion of 6 nucleotides in coding region predicting an insertion of FI between amino acids K155 and Y156 ADM_110 commonName Phe177Leu ADM_110 alias NM_000021.2:c.529T>C ADM_110 protEffect NP_000012.1:p.F177L ADM_110 disease phenotype-associated ADM_110 phenoCommon Alzheimer Disease ADM_110 comment Point mutation in coding region predicting an amino acid substitution ADM_111 commonName Phe177Ser ADM_111 alias NM_000021.2:c.530T>C ADM_111 protEffect NP_000012.1:p.F177S ADM_111 disease phenotype-associated ADM_111 phenoCommon Alzheimer Disease ADM_111 comment Point mutation in coding region predicting an amino acid substitution ADM_112 commonName Ser178Pro ADM_112 alias NM_000021.2:c.532T>C ADM_112 protEffect NP_000012.1:p.S178P ADM_112 disease phenotype-associated ADM_112 phenoCommon Alzheimer Disease ADM_112 comment Point mutation in coding region predicting an amino acid substitution ADM_113 commonName Gly206Ser ADM_113 alias NM_000021.2:c.616G>A ADM_113 protEffect NP_000012.1:p.G206S ADM_113 disease phenotype-associated ADM_113 phenoCommon Alzheimer Disease ADM_113 comment Point mutation in coding region predicting an amino acid substitution ADM_114 commonName Gly206Ala ADM_114 alias NM_000021.2:c.617G>C ADM_114 protEffect NP_000012.1:p.G206A ADM_114 disease phenotype-associated ADM_114 phenoCommon Alzheimer Disease ADM_114 comment Point mutation in coding region predicting an amino acid substitution ADM_115 commonName Gly209Glu ADM_115 alias NM_000021.2:c.626G>A ADM_115 protEffect NP_000012.1:p.G209E ADM_115 disease phenotype-associated ADM_115 phenoCommon Alzheimer Disease ADM_115 comment Point mutation in coding region predicting an amino acid substitution ADM_116 commonName Ile213Leu ADM_116 alias NM_000021.2:c.637A>C ADM_116 protEffect NP_000012.1:p.I213L ADM_116 disease phenotype-associated ADM_116 phenoCommon Alzheimer Disease ADM_116 comment Point mutation in coding region predicting an amino acid substitution ADM_117 commonName Gln222Arg ADM_117 alias NM_000021.2:c.665A>G ADM_117 protEffect NP_000012.1:p.Q222R ADM_117 disease phenotype-associated ADM_117 phenoCommon Alzheimer Disease ADM_117 comment Point mutation in coding region predicting an amino acid substitution ADM_118 commonName Thr274Arg ADM_118 alias NM_000021.2:c.821C>G ADM_118 protEffect NP_000012.1:p.T274R ADM_118 disease phenotype-associated ADM_118 phenoCommon Alzheimer Disease ADM_118 comment Point mutation in coding region predicting an amino acid substitution ADM_119 commonName Thr354Ile ADM_119 alias NM_000021.2:c.1061C>T ADM_119 protEffect NP_000012.1:p.T354I ADM_119 phenoCommon Alzheimer Disease ADM_119 comment Point mutation in coding region predicting an amino acid substitution ADM_120 commonName Arg358Gln ADM_120 alias NM_000021.2:c.1073G>A ADM_120 protEffect NP_000012.1:p.R358Q ADM_120 disease phenotype-associated ADM_120 phenoCommon Alzheimer Disease ADM_120 comment Point mutation in coding region predicting an amino acid substitution ADM_121 commonName Ser365Tyr ADM_121 alias NM_000021.2:c.1094C>A ADM_121 protEffect NP_000012.1:p.S365Y ADM_121 disease phenotype-associated ADM_121 phenoCommon Alzheimer Disease ADM_121 comment Point mutation in coding region predicting an amino acid substitution ADM_122 commonName Gly394Val ADM_122 alias NM_000021.2:c.1181G>T ADM_122 protEffect NP_000012.1:p.G394V ADM_122 disease phenotype-associated ADM_122 phenoCommon Alzheimer Disease ADM_122 comment Point mutation in coding region predicting an amino acid substitution ADM_123 commonName Leu418Phe ADM_123 alias NM_000021.2:c.1254G>T ADM_123 protEffect NP_000012.1:p.L418F ADM_123 disease phenotype-associated ADM_123 phenoCommon Alzheimer Disease ADM_123 comment Point mutation in coding region predicting an amino acid substitution ADM_124 commonName Ala431Glu ADM_124 alias NM_000021.2:c.1292C>A ADM_124 protEffect NP_000012.1:p.A431E ADM_124 disease phenotype-associated ADM_124 phenoCommon Alzheimer Disease ADM_124 comment Point mutation in coding region predicting an amino acid substitution ADM_125 commonName Leu435Phe ADM_125 alias NM_000021.2:c.1303C>T ADM_125 protEffect NP_000012.1:p.L435F ADM_125 disease phenotype-associated ADM_125 phenoCommon Alzheimer Disease ADM_125 comment Point mutation in coding region predicting an amino acid substitution ADM_126 commonName Ile439Val ADM_126 alias NM_000021.2:c.1315A>G ADM_126 protEffect NP_000012.1:p.I439V ADM_126 disease phenotype-associated ADM_126 phenoCommon Alzheimer Disease ADM_126 comment Point mutation in coding region predicting an amino acid substitution ADM_127 commonName InsR352 ADM_127 alias NM_000021.2:c.1055_1056insTCG ADM_127 protEffect NP_000012.1:p.R352_S353insR ADM_127 phenoCommon Frontotemporal Dementia ADM_127 comment Insertion of 3 nucleotides in coding region predicting an insertion of R between amino acids R352 and S353 ADM_128 commonName Met233Val ADM_128 alias NM_000021.2:c.697A>G ADM_128 protEffect NP_000012.1:p.M233V ADM_128 disease phenotype-associated ADM_128 phenoCommon Alzheimer Disease ADM_128 comment Point mutation in coding region predicting an amino acid substitution ADM_129 commonName Leu282Val ADM_129 alias NM_000021.2:c.844C>G ADM_129 protEffect NP_000012.1:p.L282V ADM_129 disease phenotype-associated ADM_129 phenoCommon Alzheimer Disease / CAA ADM_129 comment Point mutation in coding region predicting an amino acid substitution ADM_131 commonName Phe237Ile ADM_131 alias NM_000021.2:c.709T>A ADM_131 protEffect NP_000012.1:p.F237I ADM_131 disease phenotype-associated ADM_131 phenoCommon Alzheimer Disease / Spastic Paraparesis ADM_131 comment Point mutation in coding region predicting an amino acid substitution ADM_132 commonName Asp439Ala ADM_132 alias NM_000447.1:c.1316A>C ADM_132 protEffect NP_000438.1:p.D439A ADM_132 disease phenotype-associated ADM_132 phenoCommon Alzheimer Disease ADM_132 comment Point mutation in coding region predicting an amino acid substitution ADM_133 commonName "Thr714Ala, Iranian APP" ADM_133 alias NM_000484.2:c.2140A>G ADM_133 protEffect NP_000475.1:p.T714A ADM_133 disease phenotype-associated ADM_133 phenoCommon Alzheimer Disease ADM_133 comment Point mutation in coding region predicting an amino acid substitution ADM_134 commonName Ser130Leu ADM_134 alias NM_000447.1:c.389C>T ADM_134 protEffect NP_000438.1:p.S130L ADM_134 phenoCommon Alzheimer Disease ADM_134 comment Point mutation in coding region predicting an amino acid substitution ADM_135 commonName Leu174Met ADM_135 alias NM_000021.2:c.520C>A ADM_135 protEffect NP_000012.1:p.L174M ADM_135 disease phenotype-associated ADM_135 phenoCommon Alzheimer Disease ADM_135 comment Point mutation in coding region predicting an amino acid substitution ADM_136 commonName Cys92Ser ADM_136 alias NM_000021.2:c.275G>C ADM_136 protEffect NP_000012.1:p.C92S ADM_136 disease phenotype-associated ADM_136 phenoCommon Alzheimer Disease ADM_136 comment Point mutation in coding region predicting an amino acid substitution ADM_137 commonName Leu166Pro ADM_137 alias NM_000021.2:c.497T>C ADM_137 protEffect NP_000012.1:p.L166P ADM_137 disease phenotype-associated ADM_137 phenoCommon Alzheimer Disease ADM_137 comment Point mutation in coding region predicting an amino acid substitution ADM_138 commonName Gly217Asp ADM_138 alias NM_000021.2:c.650G>A ADM_138 protEffect NP_000012.1:p.G217D ADM_138 disease phenotype-associated ADM_138 phenoCommon Alzheimer Disease / Parkinsonism ADM_138 comment Point mutation in coding region predicting an amino acid substitution ADM_139 commonName Ile716Thr ADM_139 alias NM_000484.2:c.2147T>C ADM_139 protEffect NP_000475.1:p.I716T ADM_139 disease phenotype-associated ADM_139 phenoCommon Alzheimer Disease ADM_139 comment Point mutation in coding region predicting an amino acid substitution ADM_140 commonName Val715Ala; German APP ADM_140 alias NM_000484.2:c.2144T>C ADM_140 protEffect NP_000475.1:p.V715A ADM_140 disease phenotype-associated ADM_140 phenoCommon Alzheimer Disease ADM_140 comment Point mutation in coding region predicting an amino acid substitution ADM_141 commonName Ile143Met ADM_141 alias NM_000021.2:c.429T>G ADM_141 protEffect NP_000012.1:p.I143M ADM_141 disease phenotype-associated ADM_141 phenoCommon Alzheimer Disease ADM_141 comment Point mutation in coding region predicting an amino acid substitution ADM_142 commonName Val272Ala ADM_142 alias NM_000021.2:c.815T>C ADM_142 protEffect NP_000012.1:p.V272A ADM_142 disease phenotype-associated ADM_142 phenoCommon Alzheimer Disease / Subcortical dementia / Parkinsonism ADM_142 comment Point mutation in coding region predicting an amino acid substitution ADM_143 commonName Tyr154Cys ADM_143 alias NM_000021.2:c.461A>G ADM_143 protEffect NP_000012.1:p.Y154C ADM_143 disease phenotype-associated ADM_143 phenoCommon Alzheimer Disease ADM_143 comment Point mutation in coding region predicting an amino acid substitution ADM_144 commonName ΔI167 ADM_144 alias NM_000021.2:c.498_500delTAT ADM_144 protEffect NP_000012.1:p.I167del ADM_144 disease phenotype-associated ADM_144 phenoCommon Alzheimer Disease ADM_144 comment Trinucleotide deletion resulting in deletion of 1 amino acid ADM_145 commonName Ile229Phe ADM_145 alias NM_000021.2:c.685A>T ADM_145 protEffect NP_000012.1:p.I229F ADM_145 disease phenotype-associated ADM_145 phenoCommon Alzheimer Disease ADM_145 comment Point mutation in coding region predicting an amino acid substitution ADM_146 commonName Leu235Val ADM_146 alias NM_000021.2:c.703C>G ADM_146 protEffect NP_000012.1:p.L235V ADM_146 disease phenotype-associated ADM_146 phenoCommon Alzheimer Disease ADM_146 comment Point mutation in coding region predicting an amino acid substitution ADM_147 commonName Phe237Leu ADM_147 alias NM_000021.2:c.709T>C ADM_147 protEffect NP_000012.1:p.F237L ADM_147 disease phenotype-associated ADM_147 phenoCommon Alzheimer Disease ADM_147 comment Point mutation in coding region predicting an amino acid substitution ADM_148 commonName Cys263Phe ADM_148 alias NM_000021.2:c.788G>T ADM_148 protEffect NP_000012.1:p.C263F ADM_148 disease phenotype-associated ADM_148 phenoCommon Alzheimer Disease ADM_148 comment Point mutation in coding region predicting an amino acid substitution ADM_149 commonName Arg377Met ADM_149 alias NM_000021.2:c.1130G>T ADM_149 protEffect NP_000012.1:p.R377M ADM_149 disease phenotype-associated ADM_149 phenoCommon Alzheimer Disease ADM_149 comment Point mutation in coding region predicting an amino acid substitution ADM_150 commonName Gly378Val ADM_150 alias NM_000021.2:c.1133G>T ADM_150 protEffect NP_000012.1:p.G378V ADM_150 disease phenotype-associated ADM_150 phenoCommon Alzheimer Disease ADM_150 comment Point mutation in coding region predicting an amino acid substitution ADM_151 commonName Pro117Ser ADM_151 alias NM_000021.2:c.349C>T ADM_151 protEffect NP_000012.1:p.P117S ADM_151 disease phenotype-associated ADM_151 phenoCommon Alzheimer Disease ADM_151 comment Point mutation in coding region predicting an amino acid substitution ADM_152 commonName Arg278Lys ADM_152 alias NM_000021.2:c.833G>A ADM_152 protEffect NP_000012.1:p.R278K ADM_152 disease phenotype-associated ADM_152 phenoCommon Alzheimer Disease / Spastic Paraparesis ADM_152 comment Point mutation in coding region predicting an amino acid substitution ADM_153 commonName Glu693Gln; Dutch APP ADM_153 alias NM_000484.2:c.2020G>C ADM_153 protEffect NP_000475.1:p.E693Q ADM_153 disease phenotype-associated ADM_153 phenoCommon HCHWA-D ADM_153 comment Point mutation in coding region predicting an amino acid substitution ADM_154 commonName Val89Leu ADM_154 alias NM_000021.2:c.265G>T ADM_154 protEffect NP_000012.1:p.V89L ADM_154 disease phenotype-associated ADM_154 phenoCommon Alzheimer Disease / Behavioural Disturbances ADM_154 comment Point mutation in coding region predicting an amino acid substitution ADM_155 commonName Ala431Val ADM_155 alias NM_000021.2:c.1292C>T ADM_155 protEffect NP_000012.1:p.A431V ADM_155 disease phenotype-associated ADM_155 phenoCommon Alzheimer Disease ADM_155 comment Point mutation in coding region predicting an amino acid substitution ADM_156 commonName Leu271Val ADM_156 alias NM_000021.2:c.811C>G ADM_156 protEffect NP_000012.1:p.L271V ADM_156 disease phenotype-associated ADM_156 phenoCommon Alzheimer Disease ADM_156 comment Point mutation in coding region predicting an amino acid substitution ADM_157 commonName Pro334Arg ADM_157 alias NM_000447.1:c.1001C>G ADM_157 protEffect NP_000438.1:p.P334R ADM_157 disease not phenotype-associated ADM_157 phenoCommon No Phenotype ADM_157 comment Point mutation in coding region predicting an amino acid substitution ADM_158 commonName Thr430Met ADM_158 alias NM_000447.1:c.1289C>T ADM_158 protEffect NP_000438.1:p.T430M ADM_158 disease phenotype-associated ADM_158 phenoCommon Alzheimer Disease ADM_158 comment Point mutation in coding region predicting an amino acid substitution ADM_159 commonName Ala713Thr ADM_159 protEffect NP_000475.1:p.A713T ADM_159 phenoCommon No Phenotype ADM_159 comment Double point mutation in coding region. The first mutation at codon A713 causes an amino acid change. The second mutation at codon V715 is a silent mutation ADM_160 commonName Ala673Thr ADM_160 alias NM_000484.2:c.2017G>A ADM_160 protEffect NP_000475.1:p.A673T ADM_160 disease not phenotype-associated ADM_160 phenoCommon No Phenotype ADM_160 comment Point mutation in coding region predicting an amino acid substitution ADM_161 commonName Phe175Ser ADM_161 alias NM_000021.2:c.524T>C ADM_161 protEffect NP_000012.1:p.F175S ADM_161 disease not phenotype-associated ADM_161 phenoCommon No Phenotype ADM_161 comment Point mutation in coding region predicting an amino acid substitution ADM_162 commonName Glu665Asp ADM_162 alias NM_000484.2:c.1995G>C ADM_162 protEffect NP_000475.1:p.E665D ADM_162 disease not phenotype-associated ADM_162 phenoCommon No Phenotype ADM_162 comment Point mutation in coding region predicting an amino acid substitution ADM_163 commonName Ala713Val ADM_163 alias NM_000484.2:c.2138C>T ADM_163 protEffect NP_000475.1:p.A713V ADM_163 disease not phenotype-associated ADM_163 phenoCommon No Phenotype ADM_163 comment Point mutation in coding region predicting an amino acid substitution ADM_164 commonName Glu318Gly ADM_164 alias NM_000021.2:c.953A>G ADM_164 protEffect NP_000012.1:p.E318G ADM_164 disease not phenotype-associated ADM_164 phenoCommon No Phenotype ADM_164 comment Point mutation in coding region predicting an amino acid substitution ADM_165 commonName Pro284Leu ADM_165 alias NM_000021.2:c.851C>T ADM_165 protEffect NP_000012.1:p.P284L ADM_165 disease phenotype-associated ADM_165 phenoCommon Alzheimer Disease / Spastic Paraparesis ADM_165 comment Point mutation in coding region predicting an amino acid substitution ADM_166 commonName Gly206Val ADM_166 alias NM_000021.2:c.617G>T ADM_166 protEffect NP_000012.1:p.G206V ADM_166 disease phenotype-associated ADM_166 phenoCommon Alzheimer Disease ADM_166 comment Point mutation in coding region predicting an amino acid substitution ADM_167 commonName Leu250Val ADM_167 alias NM_000021.2:c.748T>G ADM_167 protEffect NP_000012.1:p.L250V ADM_167 disease phenotype-associated ADM_167 phenoCommon Alzheimer Disease / Myoclonus DMD:c.3406A>T protEffect DMD:p.Thr1136Ser ADM_167 comment Point mutation in coding region predicting an amino acid substitution ADM_168 commonName Pro267Leu ADM_168 alias NM_000021.2:c.800C>T ADM_168 protEffect NP_000012.1:p.P267L ADM_168 disease phenotype-associated ADM_168 phenoCommon Alzheimer Disease ADM_168 comment Point mutation in coding region predicting an amino acid substitution ADM_169 commonName Leu424Arg ADM_169 alias NM_000021.2:c.1271T>G ADM_169 protEffect NP_000012.1:p.L424R ADM_169 disease phenotype-associated ADM_169 phenoCommon Alzheimer Disease ADM_169 comment Point mutation in coding region predicting an amino acid substitution ADM_170 commonName Gln222His ADM_170 alias NM_000021.2:c.666G>C ADM_170 protEffect NP_000012.1:p.Q222H ADM_170 disease phenotype-associated ADM_170 phenoCommon Alzheimer Disease ADM_170 comment Point mutation in coding region predicting an amino acid substitution ADM_171 commonName Tyr256Ser ADM_171 alias NM_000021.2:c.767A>C ADM_171 protEffect NP_000012.1:p.Y256S ADM_171 disease phenotype-associated ADM_171 phenoCommon Alzheimer Disease ADM_171 comment Point mutation in coding region predicting an amino acid substitution ADM_172 commonName Arg5His ADM_172 alias BN000503.1:c.14G>A ADM_172 protEffect CAG26750.1:p.R5H ADM_172 disease phenotype-associated ADM_172 phenoCommon Frontotemporal Dementia ADM_172 comment Point mutation in coding region predicting an amino acid substitution ADM_173 commonName Arg5Leu ADM_173 alias BN000503.1:c.14G>T ADM_173 protEffect CAG26750.1:p.R5L ADM_173 disease phenotype-associated ADM_173 phenoCommon Progressive Supranuclear Palsy ADM_173 comment Point mutation in coding region predicting an amino acid substitution ADM_174 commonName Lys257Thr ADM_174 alias BN000503.1:c.1775A>C ADM_174 protEffect CAG26750.1:p.K592T ADM_174 disease phenotype-associated ADM_174 phenoCommon Frontotemporal Dementia ADM_174 comment Point mutation in coding region predicting an amino acid substitution ADM_175 commonName Ile260Val ADM_175 alias BN000503.1:c.1783A>G ADM_175 protEffect CAG26750.1:p.I595V ADM_175 disease phenotype-associated ADM_175 phenoCommon Frontotemporal Dementia ADM_175 comment Point mutation in coding region predicting an amino acid substitution ADM_176 commonName Leu266Val ADM_176 alias BN000503.1:c.1801C>G ADM_176 protEffect CAG26750.1:p.L601V ADM_176 disease phenotype-associated ADM_176 phenoCommon Frontotemporal Dementia ADM_176 comment Point mutation in coding region predicting an amino acid substitution ADM_177 commonName Gly272Val ADM_177 alias BN000503.1:c.1820G>T ADM_177 protEffect CAG26750.1:p.G607V ADM_177 disease phenotype-associated ADM_177 phenoCommon Frontotemporal Dementia ADM_177 comment Point mutation in coding region predicting an amino acid substitution ADM_178 commonName Asn279Lys ADM_178 alias BN000503.1:c.1842T>G ADM_178 protEffect CAG26750.1:p.N614K ADM_178 disease phenotype-associated ADM_178 phenoCommon Frontotemporal Dementia ADM_178 comment Point mutation in coding region predicting an amino acid substitution ADM_179 commonName ΔK280;ΔK281 ADM_179 alias BN000503.1:c.1846_1848delAAG ADM_179 protEffect CAG26750.1:p.deltaK616 ADM_179 phenoCommon Frontotemporal Dementia / Alzheimer Disease ADM_179 comment Trinucleotide deletion resulting in deletion of 1 amino acid ADM_180 commonName Leu284Leu ADM_180 alias BN000503.1:c.1857T>C ADM_180 protEffect CAG26750.1:p.L619L ADM_180 disease phenotype-associated ADM_180 phenoCommon Frontotemporal Dementia ADM_180 comment Silent point mutation in coding region affecting alternative splicing of exon 10 ADM_181 commonName Asn296Asn ADM_181 alias BN000503.1:c.1893T>C ADM_181 protEffect CAG26750.1:p.N631N ADM_181 disease phenotype-associated ADM_181 phenoCommon Frontotemporal Dementia ADM_181 comment Silent point mutation in coding region affecting alternative splicing of exon 10 ADM_182 commonName Asn296His ADM_182 alias BN000503.1:c.1891A>C ADM_182 protEffect CAG26750.1:p.N631H ADM_182 disease phenotype-associated ADM_182 phenoCommon Frontotemporal Dementia ADM_182 comment Point mutation in coding region predicting an amino acid substitution ADM_183 commonName ΔN296 ADM_183 alias BN000503.1:c.1892_1894delATA ADM_183 protEffect CAG26750.1:p.deltaN631 ADM_183 disease phenotype-associated ADM_183 phenoCommon Progressive Supranuclear Palsy ADM_183 comment Trinucleotide deletion resulting in deletion of 1 amino acid ADM_184 commonName Pro301Ser ADM_184 alias BN000503.1:c.1906C>T ADM_184 protEffect CAG26750.1:p.P636S ADM_184 disease phenotype-associated ADM_184 phenoCommon Frontotemporal Dementia ADM_184 comment Point mutation in coding region predicting an amino acid substitution ADM_185 commonName Ser305Ser ADM_185 alias BN000503.1:c.1920T>C ADM_185 protEffect CAG26750.1:p.S640S ADM_185 disease phenotype-associated ADM_185 phenoCommon Frontotemporal Dementia / Progressive Supranuclear Palsy ADM_185 comment Silent point mutation in coding region affecting alternative splicing of exon 10 ADM_186 commonName Ser305Asn ADM_186 alias BN000503.1:c.1919G>A ADM_186 protEffect CAG26750.1:p.S640N ADM_186 disease phenotype-associated ADM_186 phenoCommon Frontotemporal Dementia ADM_186 comment Point mutation in coding region predicting an amino acid substitution ADM_187 commonName Leu315Arg ADM_187 alias BN000503.1:c.1949T>G ADM_187 protEffect CAG26750.1:p.L650R ADM_187 disease phenotype-associated ADM_187 phenoCommon Frontotemporal Dementia ADM_187 comment Point mutation in coding region predicting an amino acid substitution ADM_188 commonName Ser320Phe ADM_188 alias BN000503.1:c.1964C>T ADM_188 protEffect CAG26750.1:p.S655F ADM_188 disease phenotype-associated ADM_188 phenoCommon Frontotemporal Dementia ADM_188 comment Point mutation in coding region predicting an amino acid substitution ADM_189 commonName Val337Met ADM_189 alias BN000503.1:c.2014G>A ADM_189 protEffect CAG26750.1:p.V672M ADM_189 disease phenotype-associated ADM_189 phenoCommon Frontotemporal Dementia ADM_189 comment Point mutation in coding region predicting an amino acid substitution ADM_190 commonName Glu342Val ADM_190 alias BN000503.1:c.2030A>T ADM_190 protEffect CAG26750.1:p.E677V ADM_190 disease phenotype-associated ADM_190 phenoCommon Frontotemporal Dementia ADM_190 comment Point mutation in coding region predicting an amino acid substitution ADM_191 commonName Ser352Leu ADM_191 alias BN000503.1:c.2060C>T ADM_191 protEffect CAG26750.1:p.S687L ADM_191 disease phenotype-associated ADM_191 phenoCommon Respiratory Failure ADM_191 comment Point mutation in coding region predicting an amino acid substitution ADM_192 commonName Lys369Ile ADM_192 alias BN000503.1:c.2111A>T ADM_192 protEffect CAG26750.1:p.K704I ADM_192 disease phenotype-associated ADM_192 phenoCommon Frontotemporal Dementia ADM_192 comment Point mutation in coding region predicting an amino acid substitution ADM_193 commonName Gly389Arg ADM_193 alias BN000503.1:c.2170G>C ADM_193 protEffect CAG26750.1:p.G724R ADM_193 disease phenotype-associated ADM_193 phenoCommon Frontotemporal Dementia ADM_193 comment Point mutation in coding region predicting an amino acid substitution ADM_194 commonName Gly389Arg ADM_194 alias BN000503.1:c.2170G>A ADM_194 protEffect CAG26750.1:p.G724R ADM_194 disease phenotype-associated ADM_194 phenoCommon Frontotemporal Dementia ADM_194 comment Point mutation in coding region predicting an amino acid substitution ADM_195 commonName Arg406Trp ADM_195 alias BN000503.1:c.2221C>T ADM_195 protEffect CAG26750.1:p.R741W ADM_195 disease phenotype-associated ADM_195 phenoCommon Frontotemporal Dementia / Alzheimer Disease ADM_195 comment Point mutation in coding region predicting an amino acid substitution ADM_196 commonName Pro301Leu ADM_196 alias BN000503.1:c.1907C>T ADM_196 protEffect CAG26750.1:p.P636L ADM_196 disease phenotype-associated ADM_196 phenoCommon Frontotemporal Dementia ADM_196 comment Point mutation in coding region predicting an amino acid substitution ADM_197 commonName IVS10+3G>A ADM_197 disease phenotype-associated ADM_197 phenoCommon Frontotemporal Dementia ADM_197 comment Point mutation in intronic region affecting alternative splicing of exon 10 ADM_198 commonName IVS10+11T>C ADM_198 disease phenotype-associated ADM_198 phenoCommon Frontotemporal Dementia VAR_000005 disease not phenotype-associated ADM_198 comment Point mutation in intronic region affecting alternative splicing of exon 10 ADM_199 commonName IVS10+12C>T ADM_199 disease phenotype-associated ADM_199 phenoCommon Frontotemporal Dementia ADM_199 comment Point mutation in intronic region affecting alternative splicing of exon 10 ADM_200 commonName IVS10+13A>G ADM_200 disease phenotype-associated ADM_200 phenoCommon Frontotemporal Dementia ADM_200 comment Point mutation in intronic region affecting alternative splicing of exon 10 ADM_201 commonName IVS10+14C>T ADM_201 disease phenotype-associated ADM_201 phenoCommon Frontotemporal Dementia ADM_201 comment Point mutation in intronic region affecting alternative splicing of exon 10 ADM_202 commonName IVS10+16C>T ADM_202 disease phenotype-associated ADM_202 phenoCommon Frontotemporal Dementia ADM_202 comment Point mutation in intronic region affecting alternative splicing of exon 10 ADM_203 commonName IVS10+19C>G ADM_203 disease phenotype-associated ADM_203 phenoCommon Frontotemporal Dementia ADM_203 comment Point mutation in intronic region affecting alternative splicing of exon 10 ADM_204 commonName IVS10+29G>A ADM_204 disease not phenotype-associated ADM_204 phenoCommon Frontotemporal Dementia ADM_204 comment Point mutation in intronic region predicted not to affect alternative splicing of exon 10 ADM_205 commonName Gln336Arg ADM_205 alias BN000503.1:c.2012A>G ADM_205 protEffect CAG26750.1:p.Q671R ADM_205 disease phenotype-associated ADM_205 phenoCommon Frontotemporal Dementia ADM_205 comment Point mutation in coding region predicting an amino acid substitution ADM_206 commonName Tyr18Tyr ADM_206 alias BN000503.1:c.54C>T ADM_206 protEffect CAG26750.1:p.Y18Y ADM_206 disease not phenotype-associated ADM_206 phenoCommon No Phenotype ADM_206 comment Silent point mutation in coding region ADM_207 commonName Thr39Thr ADM_207 alias BN000503.1:c.117G>A ADM_207 protEffect CAG26750.1:p.T39T ADM_207 disease not phenotype-associated ADM_207 phenoCommon No Phenotype ADM_207 comment Silent point mutation in coding region ADM_208 commonName Pro202Leu ADM_208 alias BN000503.1:c.605C>T ADM_208 protEffect CAG26750.1:p.P202L ADM_208 disease not phenotype-associated ADM_208 phenoCommon No Phenotype ADM_208 comment Point mutation in coding region predicting an amino acid substitution ADM_209 commonName Gln230Arg ADM_209 alias BN000503.1:c.689A>G ADM_209 protEffect CAG26750.1:p.Q230R ADM_209 disease not phenotype-associated ADM_209 phenoCommon No Phenotype ADM_209 comment Point mutation in coding region predicting an amino acid substitution ADM_210 commonName Asp285Asn ADM_210 alias BN000503.1:c.853G>A ADM_210 protEffect CAG26750.1:p.D285N ADM_210 disease not phenotype-associated ADM_210 phenoCommon No Phenotype ADM_210 comment Point mutation in coding region predicting an amino acid substitution ADM_211 commonName Asp285Asp ADM_211 alias BN000503.1:c.855C>T ADM_211 protEffect CAG26750.1:p.D285D ADM_211 disease not phenotype-associated ADM_211 phenoCommon No Phenotype ADM_211 comment Silent point mutation in coding region ADM_212 commonName Val289Ala ADM_212 alias BN000503.1:c.866T>C ADM_212 protEffect CAG26750.1:p.V289A ADM_212 disease not phenotype-associated ADM_212 phenoCommon No Phenotype ADM_212 comment Point mutation in coding region predicting an amino acid substitution ADM_213 commonName Arg370Trp ADM_213 alias BN000503.1:c.1108C>T ADM_213 protEffect CAG26750.1:p.R369W ADM_213 disease not phenotype-associated ADM_213 phenoCommon No Phenotype ADM_213 comment Point mutation in coding region predicting an amino acid substitution ADM_214 commonName EX6 His47Tyr ADM_214 alias BN000503.1:c.1321C>T ADM_214 protEffect CAG26750.1:p.H441Y ADM_214 disease not phenotype-associated ADM_214 phenoCommon No Phenotype ADM_214 comment Point mutation in coding region predicting an amino acid substitution ADM_215 commonName EX6 Ser53Pro ADM_215 alias BN000503.1:c.1339T>C ADM_215 protEffect CAG26750.1:p.S447P ADM_215 disease not phenotype-associated ADM_215 phenoCommon No Phenotype ADM_215 comment Point mutation in coding region predicting an amino acid substitution ADM_216 commonName Pro176Pro ADM_216 alias BN000503.1:c.1479G>A ADM_216 protEffect CAG26750.1:p.P176P ADM_216 disease not phenotype-associated ADM_216 phenoCommon No Phenotype ADM_216 comment Silent point mutation in coding region ADM_217 commonName Ala178Thr ADM_217 alias BN000503.1:c.1483G>A ADM_217 protEffect CAG26750.1:p.A178T ADM_217 disease not phenotype-associated ADM_217 phenoCommon No Phenotype ADM_217 comment Point mutation in coding region predicting an amino acid substitution ADM_218 commonName EX8 Thr2Thr ADM_218 alias BN000503.1:c.1512CT>C ADM_218 protEffect CAG26750.1:p.T504T ADM_218 disease not phenotype-associated ADM_218 phenoCommon No Phenotype ADM_218 comment Silent point mutation in coding region ADM_219 commonName Ala227Ala ADM_219 alias BN000503.1:c.1686A>G ADM_219 protEffect CAG26750.1:p.A227A ADM_219 disease not phenotype-associated ADM_219 phenoCommon No Phenotype ADM_219 comment Silent point mutation in coding region ADM_221 commonName Asn255Asn ADM_221 alias BN000503.1:c.1770T>C ADM_221 protEffect CAG26750.1:p.N255N ADM_221 disease not phenotype-associated ADM_221 phenoCommon No Phenotype ADM_221 comment Silent point mutation in coding region ADM_222 commonName Pro270Pro ADM_222 alias BN000503.1:c.1815G>A ADM_222 protEffect CAG26750.1:p.P270P ADM_222 disease not phenotype-associated ADM_222 phenoCommon No Phenotype ADM_222 comment Silent point mutation in coding region ADM_223 commonName Pro301Pro ADM_223 alias BN000503.1:c.1908G>A ADM_223 protEffect CAG26750.1:p.P301P ADM_223 disease not phenotype-associated ADM_223 phenoCommon No Phenotype ADM_223 comment Silent point mutation in coding region ADM_224 commonName Gly183Val ADM_224 alias NM_000021.2:c.548G>T ADM_224 protEffect NP_000012.1:p.G183V ADM_224 disease phenotype-associated ADM_224 phenoCommon Pick Disease ADM_224 comment Point mutation in coding region predicting an amino acid substitution ADM_225 commonName Pro117Arg ADM_225 alias NM_000021.2:c.350C>G ADM_225 protEffect NP_000012.1:p.P117L ADM_225 disease phenotype-associated ADM_225 phenoCommon Alzheimer Disease / Myoclonus ADM_225 comment Point mutation in coding region predicting an amino acid substitution ADM_226 commonName Ile213Phe ADM_226 alias NM_000021.2:c.637A>T ADM_226 protEffect NP_000012.1:p.I213F ADM_226 disease phenotype-associated ADM_226 phenoCommon Alzheimer Disease ADM_226 comment Point mutation in coding region predicting an amino acid substitution ADM_227 commonName Gln228Leu ADM_227 alias NM_000447.1:c.683A>T ADM_227 protEffect NP_000438.1:p.Q228L ADM_227 disease phenotype-associated ADM_227 phenoCommon Alzheimer Disease ADM_227 comment Point mutation in coding region predicting an amino acid substitution ADM_228 commonName Leu226Arg ADM_228 alias NM_000021.2:c.677T>G ADM_228 protEffect NP_000012.1:p.L226R ADM_228 disease phenotype-associated ADM_228 phenoCommon Alzheimer Disease ADM_228 comment Point mutation in coding region predicting an amino acid substitution ADM_229 commonName Thr116Ile ADM_229 alias NM_000021.2:c.347C>T ADM_229 protEffect NP_000012.1:p.T116I ADM_229 disease phenotype-associated ADM_229 phenoCommon Alzheimer Disease ADM_229 comment Point mutation in coding region predicting an amino acid substitution ADM_230 commonName Tyr115Asp ADM_230 alias NM_000021.2:c.343T>C ADM_230 protEffect NP_000012.1:p.Y115D ADM_230 disease phenotype-associated ADM_230 phenoCommon Alzheimer Disease ADM_230 comment Point mutation in coding region predicting an amino acid substitution ADM_231 commonName Lys317Met ADM_231 alias BN000503.1:c.1955A>T ADM_231 protEffect CAG26750.1:p.K652M ADM_231 disease phenotype-associated ADM_231 phenoCommon Frontotemporal Dementia / Parkinsonism / Motor Neuron Disease ADM_231 comment Point mutation in coding region predicting an amino acid substitution ADM_232 commonName Thr427Met ADM_232 alias BN000503.1:c.2285C>T ADM_232 protEffect CAG26750.1:p.T762M ADM_232 disease phenotype-associated ADM_232 phenoCommon Frontotemporal Dementia ADM_232 comment Point mutation in coding region predicting an amino acid substitution ADM_233 commonName Gly86Ser ADM_233 alias BN000503.1:c.256G>A ADM_233 protEffect CAG26750.1:p.G86S ADM_233 disease not phenotype-associated ADM_233 phenoCommon Frontotemporal Dementia ADM_233 comment Point mutation in coding region predicting an amino acid substitution ADM_234 commonName Tyr154Asn ADM_234 alias NM_000021.2:c.460T>A ADM_234 protEffect NP_000012.1:p.Y154N ADM_234 disease phenotype-associated ADM_234 phenoCommon Alzheimer Disease / Spastic Paraparesis ADM_234 comment Point mutation in coding region predicting an amino acid substitution ADM_235 commonName His677Arg ADM_235 alias NM_000484.2:c.2030A>G ADM_235 protEffect NP_000475.1:p.H677R ADM_235 disease not phenotype-associated ADM_235 phenoCommon No Phenotype ADM_235 comment Point mutation in coding region predicting an amino acid substitution ADM_236 commonName "Asp678Asn, Tottori APP" ADM_236 alias NM_000484.2:c.2032G>A ADM_236 protEffect NP_000475.1:p.D678N ADM_236 disease phenotype-associated ADM_236 phenoCommon Alzheimer Disease ADM_236 comment Point mutation in coding region predicting an amino acid substitution ADM_237 commonName Arg278Ile ADM_237 alias NM_000021.2:c.833G>T ADM_237 protEffect NP_000012.1:p.R278I ADM_237 disease phenotype-associated ADM_237 phenoCommon Progressive Nonfluent Aphasia / Language Impairment ADM_237 comment Point mutation in coding region predicting an amino acid substitution ADM_238 commonName Ala713Thr ADM_238 alias NM_000484.2:c.2137G>A ADM_238 protEffect NP_000475.1:p.A713T ADM_238 disease phenotype-associated ADM_238 phenoCommon Alzheimer Disease / CAA ADM_238 comment Point mutation in coding region predicting an amino acid substitution ADM_239 commonName Leu85Pro ADM_239 alias NM_000021.2:c.254T>C ADM_239 protEffect NP_000012.1:p.L85P ADM_239 disease phenotype-associated ADM_239 phenoCommon Alzheimer Disease / Spastic Paraparesis ADM_239 comment Point mutation in coding region predicting an amino acid substitution ADM_240 commonName Leu315Leu ADM_240 alias BN000503.1:c.1950G>A ADM_240 protEffect CAG26750.1:p.L315L ADM_240 disease phenotype-associated ADM_240 phenoCommon Frontotemporal dementia ADM_240 comment Silent point mutation in coding region ADM_241 commonName Leu113Gln ADM_241 alias NM_000021.2:c.338T>A ADM_241 protEffect NP_000012.1:p.L113Q ADM_241 disease phenotype-associated ADM_241 phenoCommon Alzheimer Disease / Myoclonus ADM_241 comment Point mutation in coding region predicting an amino acid substitution ADM_242 commonName Asn135Ser ADM_242 alias NM_000021.2:c.404A>G ADM_242 protEffect NP_000012.1:p.N135S ADM_242 disease phenotype-associated ADM_242 phenoCommon Alzheimer Disease / Epilepsy ADM_242 comment Point mutation in coding region predicting an amino acid substitution ADM_243 commonName Gly335Val ADM_243 alias BN000503.1:c.2009G>T ADM_243 protEffect CAG26750.1:p.G670V ADM_243 disease phenotype-associated ADM_243 phenoCommon Frontotemporal Dementia ADM_243 comment Point mutation in coding region predicting an amino acid substitution ADM_244 commonName Gly303Val ADM_244 alias BN000503.1:c.1913G>T ADM_244 protEffect CAG26750.1:p.G303V ADM_244 disease phenotype-associated ADM_244 phenoCommon Progressive Supranuclear Palsy ADM_244 comment Point mutation in coding region predicting an amino acid substitution ADM_245 commonName Gln424Lys ADM_245 alias BN000503.1:c.2275C>A ADM_245 protEffect CAG26750.1:p.Q424K ADM_245 disease phenotype-associated ADM_245 phenoCommon Parkinson Disease ADM_245 comment Point mutation in coding region predicting an amino acid substitution ADM_246 commonName Glu693Lys; Italian APP ADM_246 alias NM_000484.2:c.2020G>A ADM_246 protEffect NP_000475.1:p.E693K ADM_246 disease phenotype-associated ADM_246 phenoCommon CAA ADM_246 comment Point mutation in coding region predicting an amino acid substitution ADM_247 commonName Leu705Val ADM_247 alias NM_000484.2:c.2113C>G ADM_247 protEffect NP_000475.1:p.L705V ADM_247 disease phenotype-associated ADM_247 phenoCommon CAA ADM_247 comment Point mutation in coding region predicting an amino acid substitution ADM_248 commonName Leu166His ADM_248 alias NM_000021.2:c.497T>A ADM_248 protEffect NP_000012.1:p.L166H ADM_248 disease phenotype-associated ADM_248 phenoCommon Alzheimer Disease ADM_248 comment Point mutation in coding region predicting an amino acid substitution ADM_249 commonName Ser170Phe ADM_249 alias NM_000021.2:c.509C>T ADM_249 protEffect NP_000012.1:p.S170F ADM_249 disease phenotype-associated ADM_249 phenoCommon Alzheimer Disease With Lewy Bodies ADM_249 comment Point mutation in coding region predicting an amino acid substitution ADM_250 commonName ΔT440 ADM_250 alias NM_000021.2:c.1318_1320delACC ADM_250 protEffect NP_000012.1:p.T440del ADM_250 disease phenotype-associated ADM_250 phenoCommon Alzheimer Disease With Lewy Bodies ADM_250 comment Trinucleotide deletion predicted to result in deletion of 1 amino acid ADM_251 commonName Leu174Arg ADM_251 alias NM_000021.2:c.521T>G ADM_251 protEffect NP_000012.1:p.L174R ADM_251 disease phenotype-associated ADM_251 phenoCommon Alzheimer Disease ADM_251 comment Point mutation in coding region predicting an amino acid substitution ADM_252 commonName Leu381Val ADM_252 alias NM_000021.2:c.1141C>G ADM_252 protEffect NP_000012.1:p.L381V ADM_252 disease phenotype-associated ADM_252 phenoCommon Alzheimer Disease ADM_252 comment Point mutation in coding region predicting an amino acid substitution ADM_253 commonName Phe105Ile ADM_253 alias NM_000021.2:c.313T>A ADM_253 protEffect NP_000012.1:p.F105I ADM_253 disease phenotype-associated ADM_253 phenoCommon Alzheimer Disease ADM_253 comment Point mutation in coding region predicting an amino acid substitution ADM_254 commonName Ile143Asn ADM_254 alias NM_000021.2:c.428T>A ADM_254 protEffect NP_000012.1:p.I143N ADM_254 disease phenotype-associated ADM_254 phenoCommon Alzheimer Disease ADM_254 comment Point mutation in coding region predicting an amino acid substitution ADM_255 commonName Gly206Asp ADM_255 alias NM_000021.2:c.617G>A ADM_255 protEffect NP_000012.1:p.G206D ADM_255 disease phenotype-associated ADM_255 phenoCommon Alzheimer Disease ADM_255 comment Point mutation in coding region predicting an amino acid substitution ADM_256 commonName His214Tyr ADM_256 alias NM_000021.2:c.640C>T ADM_256 protEffect NP_000012.1:p.H214Y ADM_256 disease phenotype-associated ADM_256 phenoCommon Alzheimer Disease ADM_256 comment Point mutation in coding region predicting an amino acid substitution ADM_257 commonName Phe386Ser ADM_257 alias NM_000021.2:c.1157T>C ADM_257 protEffect NP_000012.1:p.F386S ADM_257 disease phenotype-associated ADM_257 phenoCommon Alzheimer Disease ADM_257 comment Point mutation in coding region predicting an amino acid substitution ADM_258 commonName Val391Phe ADM_258 alias NM_000021.2:c.1171G>T ADM_258 protEffect NP_000012.1:p.V391F ADM_258 disease phenotype-associated ADM_258 phenoCommon Alzheimer Disease ADM_258 comment Point mutation in coding region predicting an amino acid substitution ADM_259 commonName Leu424His ADM_259 alias NM_000021.2:c.1271T>A ADM_259 protEffect NP_000012.1:p.L424H ADM_259 disease phenotype-associated ADM_259 phenoCommon Alzheimer Disease ADM_259 comment Point mutation in coding region predicting an amino acid substitution ADM_265 commonName Gln125X ADM_265 alias NM_002087.2:c.0 ADM_265 protEffect NP_002078.1:p.0 ADM_265 disease phenotype-associated ADM_265 phenoCommon Frontotemporal Dementia ADM_265 comment Point mutation in coding region creating a premature termination codon resulting in nonsense-mediated mRNA decay ADM_266 commonName IVS1+5G>C ADM_266 alias NM_002087.2:c.0 ADM_266 protEffect NP_002078.1:p.0 ADM_266 disease phenotype-associated ADM_266 phenoCommon Frontotemporal Dementia ADM_266 comment Point mutation in intron 1 splice donor site causing intron 1 retention resulting in nuclear mRNA degradation ADM_267 commonName Met1 ADM_267 alias NM_002087.2:c.3G>A ADM_267 protEffect NP_002078.1:p.M1? ADM_267 disease phenotype-associated ADM_267 phenoCommon Frontotemporal Dementia ADM_267 comment Point mutation in translation initiation codon predicting failed translation ADM_268 commonName Pro127fs ADM_268 alias NM_002087.2:c.380_381delCT ADM_268 protEffect NP_002078.1:p.P127RfsX2 ADM_268 disease phenotype-associated ADM_268 phenoCommon Frontotemporal Dementia ADM_268 comment "Dinucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay" ADM_269 commonName Ala237fs ADM_269 alias NM_002087.2:c.709_835del ADM_269 protEffect NP_002078.1:p.A237WfsX4 ADM_269 disease phenotype-associated ADM_269 phenoCommon Frontotemporal Dementia ADM_269 comment "Tetranucleotide insertion in intron 8 splice donor site predicted to cause exon 8 skipping, frameshift and premature translation termination, resulting in nonsense-mediated mRNA decay" ADM_270 commonName Met1 ADM_270 alias NM_002087.2:c.0 ADM_270 protEffect NP_002078.1:p.0 ADM_270 disease phenotype-associated ADM_270 phenoCommon Frontotemporal Dementia ADM_270 comment Point mutation in translation initiation codon resulting in reduced mRNA levels ADM_271 commonName Cys31fs ADM_271 alias NM_002087.2:c.0 ADM_271 protEffect NP_002078.1:p.0 ADM_271 disease phenotype-associated ADM_271 phenoCommon Frontotemporal Dementia ADM_271 comment "Tetranucleotide insertion in coding region causing frameshift and premature translation termination, resulting in nonsense-mediated mRNA decay" ADM_272 commonName Gln130fs ADM_272 alias NM_002087.2:c.388_391delCAGT ADM_272 protEffect NP_002078.1:p.Q130SfsX125 ADM_272 disease phenotype-associated ADM_272 phenoCommon Frontotemporal Dementia ADM_272 comment "Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay" ADM_273 commonName Val279fs ADM_273 alias NM_002087.2:c.836_933del ADM_273 protEffect NP_002078.1:p.V279GfsX5 ADM_273 disease phenotype-associated ADM_273 phenoCommon Frontotemporal Dementia ADM_273 comment "Point mutation in intron 9 splice donor site predicted to cause exon 9 skipping, frameshift and premature translation termination, resulting in nonsense-mediated mRNA decay" ADM_274 commonName Thr382fs ADM_274 alias NM_002087.2:c.1145delC ADM_274 protEffect NP_002078.1:p.T382SfsX30 ADM_274 disease phenotype-associated ADM_274 phenoCommon Frontotemporal Dementia / Corticobasal Syndrome ADM_274 comment "Single nucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay" ADM_275 commonName Trp386X ADM_275 alias NM_002087.2:c.1157G>A ADM_275 protEffect NP_002078.1:p.W386X ADM_275 disease phenotype-associated ADM_275 phenoCommon Frontotemporal Dementia ADM_275 comment Point mutation in coding region creating a premature termination codon predicted to result in nonsense-mediated mRNA decay ADM_276 commonName Arg418X ADM_276 alias NM_002087.2:c.0 ADM_276 protEffect NP_002078.1:p.0 ADM_276 disease phenotype-associated ADM_276 phenoCommon Frontotemporal Dementia ADM_276 comment Point mutation in coding region creating a premature termination codon resulting in nonsense-mediated mRNA decay ADM_277 commonName Gln468X ADM_277 alias NM_002087.2:c.1402C>T ADM_277 protEffect NP_002078.1:p.Q468X ADM_277 disease phenotype-associated ADM_277 phenoCommon Frontotemporal Dementia / Primary Progressive Aphasia ADM_277 comment Point mutation in coding region creating a premature termination codon predicted to result in nonsense-mediated mRNA decay ADM_278 commonName Thr245Pro ADM_278 alias NM_000021.2:c.733A>C ADM_278 protEffect NP_000012.1:p.T245P ADM_278 disease phenotype-associated ADM_278 phenoCommon Alzheimer Disease ADM_278 comment Point mutation in coding region predicting an amino acid substitution ADM_279 commonName Val97Leu ADM_279 alias NM_000021.2:c.289G>T ADM_279 protEffect NP_000012.1:p.V97L ADM_279 disease phenotype-associated ADM_279 phenoCommon Alzheimer Disease ADM_279 comment Point mutation in coding region predicting an amino acid substitution ADM_280 commonName Lys724Asn; Belgian APP ADM_280 alias NM_000484.2:c.2172G>C ADM_280 protEffect NP_000475.1:p.K724N ADM_280 disease phenotype-associated ADM_280 phenoCommon Alzheimer Disease ADM_280 comment Point mutation in coding region predicting an amino acid substitution ADM_281 commonName Ala9Asp ADM_281 alias NM_002087.2:c.0 ADM_281 protEffect NP_002078.1:p.A9D ADM_281 disease phenotype-associated ADM_281 phenoCommon Frontotemporal Dementia / Primary Progressive Aphasia ADM_281 comment Point mutation in coding region predicting an amino acid substitution ADM_282 commonName Asp22fs ADM_282 alias NM_002087.2:c.63_64insC ADM_282 protEffect NP_002078.1:p.D22RfsX43 ADM_282 disease phenotype-associated ADM_282 phenoCommon Frontotemporal Dementia ADM_282 comment "Single nucleotide insertion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay" ADM_283 commonName Gly35fs ADM_283 alias NM_002087.2:c.102delC ADM_283 protEffect NP_002078.1:p.G35EfsX19 ADM_283 disease phenotype-associated ADM_283 phenoCommon Frontotemporal Dementia / Primary Progressive Aphasia ADM_283 comment "Single nucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay" ADM_284 commonName IVS2+1G>A ADM_284 alias NM_002087.2:c.-7_138del ADM_284 protEffect NP_002078.1:p.0? ADM_284 disease phenotype-associated ADM_284 phenoCommon Frontotemporal Dementia ADM_284 comment "Point mutation in intron 2 splice donor site predicted to cause exon 2 skipping, deletion of Kozak sequence and failed translation initiation" ADM_286 commonName Thr52fs ADM_286 alias NM_002087.2:c.154delA ADM_286 protEffect NP_002078.1:p.T52HfsX2 ADM_286 disease phenotype-associated ADM_286 phenoCommon Frontotemporal Dementia / Primary Progressive Aphasia ADM_286 comment "Single nucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay" ADM_287 commonName Gly79fs ADM_287 alias NM_002087.2:c.234_235delAG ADM_287 protEffect NP_002078.1:p.G79DfsX39 ADM_287 disease phenotype-associated ADM_287 phenoCommon Frontotemporal Dementia ADM_287 comment "Dinucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay" ADM_288 commonName Ala155fs ADM_288 alias NM_002087.2:c.0 ADM_288 protEffect NP_002078.1:p.A155WfsX56 ADM_288 disease phenotype-associated ADM_288 phenoCommon Frontotemporal Dementia ADM_288 comment "Point mutation in intron 5 splice acceptor site predicted to cause exon 6 skipping, frameshift and premature translation termination, resulting in nonsense-mediated mRNA decay" ADM_289 commonName Ser226fs ADM_289 alias NM_002087.2:c.675_676delCA ADM_289 protEffect NP_002078.1:p.S226WfsX28 ADM_289 disease phenotype-associated ADM_289 phenoCommon Frontotemporal Dementia / Primary Progressive Aphasia ADM_289 comment "Dinucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay" ADM_290 commonName Val200fs ADM_290 alias NM_002087.2:c.599_708del ADM_290 protEffect NP_002078.1:p.V200GfsX18 ADM_290 disease phenotype-associated ADM_290 phenoCommon Frontotemporal Dementia ADM_290 comment "Point mutation in intron 7 splice donor site predicted to cause exon 7 skipping, frameshift and premature translation termination, resulting in nonsense-mediated mRNA decay" ADM_291 commonName Cys253X ADM_291 alias NM_002087.2:c.759_760delTG ADM_291 protEffect NP_002078.1:p.C253X ADM_291 disease phenotype-associated ADM_291 phenoCommon Frontotemporal Dementia ADM_291 comment "Dinucleotide deletion in coding region creating a premature termination codon, predicted to result in nonsense-mediated mRNA decay" ADM_292 commonName Val279fs;IVS8-1G>C ADM_292 alias NM_002087.2:c.836_933del ADM_292 protEffect NP_002078.1:p.V279GfsX5 ADM_292 disease phenotype-associated ADM_292 phenoCommon Corticobasal Syndrome ADM_292 comment "Point mutation in intron 8 splice acceptor site predicted to cause exon 9 skipping, frameshift and premature translation termination, resulting in nonsense-mediated mRNA decay" ADM_293 commonName Trp304fs ADM_293 alias NM_002087.2:c.910_911insTG ADM_293 protEffect NP_002078.1:p.W304LfsX58 ADM_293 disease phenotype-associated ADM_293 phenoCommon Frontotemporal Dementia ADM_293 comment "Dinucleotide insertion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay" ADM_294 commonName Trp304X ADM_294 alias NM_002087.2:c.911G>A ADM_294 protEffect NP_002078.1:p.W304X ADM_294 disease phenotype-associated ADM_294 phenoCommon Frontotemporal Dementia ADM_294 comment "Point mutation in coding region creating a premature termination codon, predicted to result in nonsense-mediated mRNA decay" ADM_295 commonName Gly333fs ADM_295 alias NM_002087.2:c.998delG ADM_295 protEffect NP_002078.1:p.G333VfsX28 ADM_295 disease phenotype-associated ADM_295 phenoCommon Primary Progressive Aphasia ADM_295 comment "Single nucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay" ADM_296 commonName Cys466fs ADM_296 alias NM_002087.2:c.1395_1396insC ADM_296 protEffect NP_002078.1:p.C466LfsX46 ADM_296 disease phenotype-associated ADM_296 phenoCommon Frontotemporal Dementia ADM_296 comment "Single nucleotide insertion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay" ADM_297 commonName Arg493X ADM_297 alias NM_002087.2:c.1477C>T ADM_297 protEffect NP_002078.1:p.R493X ADM_297 disease phenotype-associated ADM_297 phenoCommon Frontotemporal Dementia / Primary Progressive Aphasia ADM_297 comment Point mutation in coding region creating a premature termination codon predicted to result in nonsense-mediated mRNA decay ADM_298 commonName Arg19Trp ADM_298 alias NM_002087.2:c.55C>T ADM_298 protEffect NP_002078.1:p.R19W ADM_298 disease not phenotype-associated ADM_298 comment Point mutation in coding region predicting an amino acid substitution ADM_299 commonName Asp33 ADM_299 alias NM_002087.2:c.99C>T ADM_299 protEffect NP_002078.1:p.D33 ADM_299 disease not phenotype-associated ADM_299 phenoCommon No Phenotype ADM_299 comment Silent point mutation in coding region ADM_300 commonName Glu88 ADM_300 alias NM_002087.2:c.264G>A ADM_300 protEffect NP_002078.1:p.E88 ADM_300 comment Silent point mutation in coding region ADM_301 commonName Cys105Arg ADM_301 alias NM_002087.2:c.313T>C ADM_301 protEffect NP_002078.1:p.C105R ADM_301 comment Point mutation in coding region predicting an amino acid substitution ADM_302 commonName Asp128 ADM_302 alias NM_002087.2:c.384T>C ADM_302 protEffect NP_002078.1:p.D128 ADM_302 disease not phenotype-associated ADM_302 phenoCommon No Phenotype ADM_302 comment Silent point mutation in coding region ADM_303 commonName Asn236 ADM_303 alias NM_002087.2:c.708C>T ADM_303 protEffect NP_002078.1:p.N236 ADM_303 comment Silent point mutation in coding region ADM_304 commonName Glu287Asp ADM_304 alias NM_002087.2:c.861G>C ADM_304 protEffect NP_002078.1:p.E287D ADM_304 comment Point mutation in coding region predicting an amino acid substitution ADM_305 commonName Ser301 ADM_305 alias NM_002087.2:c.903G>A ADM_305 protEffect NP_002078.1:p.S301 ADM_305 disease not phenotype-associated ADM_305 comment Silent point mutation in coding region ADM_306 commonName Ala324Thr ADM_306 alias NM_002087.2:c.970G>A ADM_306 protEffect NP_002078.1:p.A324T ADM_306 disease not phenotype-associated ADM_306 comment Point mutation in coding region predicting an amino acid substitution ADM_307 commonName Arg418Gln ADM_307 alias NM_002087.2:c.1253G>A ADM_307 protEffect NP_002078.1:p.R418Q ADM_307 disease not phenotype-associated ADM_307 comment Point mutation in coding region predicting an amino acid substitution ADM_308 commonName Arg433Trp ADM_308 alias NM_002087.2:c.1297C>T ADM_308 protEffect NP_002078.1:p.R433W ADM_308 disease not phenotype-associated ADM_308 comment Point mutation in coding region predicting an amino acid substitution ADM_309 commonName Cys474 ADM_309 alias NM_002087.2:c.1422C>T ADM_309 protEffect NP_002078.1:p.C474 ADM_309 comment Silent point mutation in coding region ADM_310 commonName Gly515Ala ADM_310 alias NM_002087.2:c.1544G>C ADM_310 protEffect NP_002078.1:p.G515A ADM_310 comment Point mutation in coding region predicting an amino acid substitution ADM_312 commonName 869-22_869-23ins18 ADM_312 alias NM_000021.2:c.869_955del ADM_312 protEffect NP_000012.1:p.[S290C;T291_S319del] ADM_312 disease phenotype-associated ADM_312 phenoCommon Alzheimer Disease / Spastic Paraparesis ADM_312 comment "Insertion of 18 nucleotides (TGGAATTTTGTGCTGTTG) in intron 8, between nt 23 and 22 upstream of exon 9, resulting in exon 9 skipping" ADM_313 commonName Thr291Pro ADM_313 alias NM_000021.2:c.871A>C; c.869_955del ADM_313 protEffect NP_000012.1:p.T291P;p.[S290C;T291_S319del] ADM_313 disease phenotype-associated ADM_313 phenoCommon Alzheimer Disease / Spastic Paraparesis ADM_313 comment "Point mutation in coding region creating a missense mutation and affecting exon 9 splicing, leading to exon 9 skipping in 5% of transcripts" ADM_314 commonName Val200fs; IVS7+1G>A ADM_314 alias NM_002087.2:c.0 ADM_314 protEffect NP_002078.1:p.V200GfsX18 ADM_314 disease phenotype-associated ADM_314 phenoCommon Frontotemporal Dementia / Corticobasal Syndrome ADM_314 comment "Point mutation in intron 7 splice donor site predicted to cause exon 7 skipping, frameshift and premature translation termination, and demonstrated to result in transcript degradation" ADM_315 commonName IVS11-15_EX12+177del; Δ12 ADM_315 alias NM_002087.2:c.1414_1644del ADM_315 protEffect NP_002078.1:p.A472_Q548del ADM_315 disease phenotype-associated ADM_315 phenoCommon Frontotemporal Dementia ADM_315 comment "Deletion of 193 bp starting 15 bp upstream of exon 12 and extending 177 bp into exon 12, destroying the intron 11 splice acceptor site and predicted to result in in-frame exon 12 skipping" ADM_316 commonName Ala239Thr ADM_316 alias BN000503.1:c.1720G>A ADM_316 protEffect CAG26750.1:p.A239T ADM_316 disease not phenotype-associated ADM_316 phenoCommon No Phenotype ADM_316 comment Point mutation in coding region predicting an amino acid substitution ADM_317 commonName IVS10+25C>T ADM_317 disease not phenotype-associated ADM_317 phenoCommon No Phenotype ADM_317 comment Point mutation in intronic region predicted not to affect alternative splicing of exon 10 ADM_318 commonName Thr272fs ADM_318 alias NM_002087.2:c.813_816delCACT ADM_318 protEffect NP_002078.1:p.T272SfsX10 ADM_318 disease phenotype-associated ADM_318 phenoCommon Frontotemporal Dementia / Corticobasal Syndrome ADM_318 comment "Dinucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay" ADM_319 commonName Thr122Arg ADM_319 alias NM_000447.1:c.365C>G ADM_319 protEffect NP_000438.1:p.T122R ADM_319 disease phenotype-associated ADM_319 phenoCommon Alzheimer Disease ADM_319 comment Point mutation in coding region predicting an amino acid substitution ADM_320 commonName Pro284Ser ADM_320 alias NM_000021.2:c.850C>T ADM_320 protEffect NP_000012.1:p.P284S ADM_320 disease phenotype-associated ADM_320 phenoCommon Alzheimer Disease / Spastic Paraparesis ADM_320 comment Point mutation in coding region predicting an amino acid substitution ADM_321 commonName Met233Ile ADM_321 alias NM_000021.2:c.699G>C ADM_321 protEffect NP_000012.1:p.M233I ADM_321 disease phenotype-associated ADM_321 phenoCommon Alzheimer Disease ADM_321 comment Point mutation in coding region predicting an amino acid substitution ADM_322 commonName Gly335Ser ADM_322 alias BN000503.1:c.2008G>A ADM_322 protEffect CAG26750.1:p.G670S ADM_322 disease phenotype-associated ADM_322 phenoCommon Frontotemporal Dementia ADM_322 comment Point mutation in coding region predicting an amino acid substitution ADM_323 commonName Ser82fs ADM_323 alias NM_002087.2:c.243delC ADM_323 protEffect NP_002078.1:p.S82VfsX174 ADM_323 disease phenotype-associated ADM_323 phenoCommon Frontotemporal Dementia ADM_323 comment "Single nucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay" ADM_324 commonName Gly93 ADM_324 alias NM_002087.2:c.279G>A ADM_324 protEffect NP_002078.1:p.G93 ADM_324 disease not phenotype-associated ADM_324 comment Silent point mutation in coding region ADM_325 commonName Thr182Met ADM_325 alias NM_002087.2:c.545C>T ADM_325 protEffect NP_002078.1:p.T182M ADM_325 comment Point mutation in coding region predicting an amino acid substitution ADM_326 commonName Pro233Gln ADM_326 alias NM_002087.2:c.698C>A ADM_326 protEffect NP_002078.1:p.P233Q ADM_326 comment Point mutation in coding region predicting an amino acid substitution ADM_327 commonName Val411fs ADM_327 alias NM_002087.2:c.1231_1232delGT ADM_327 protEffect NP_002078.1:p.V411SfsX2 ADM_327 disease phenotype-associated ADM_327 phenoCommon Frontotemporal Dementia ADM_327 comment "Dinucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay" ADM_328 commonName Gly414Val ADM_328 alias NM_002087.2:c.1241G>T ADM_328 protEffect NP_002078.1:p.G414V ADM_328 disease not phenotype-associated ADM_328 phenoCommon No Phenotype ADM_328 comment Point mutation in coding region predicting an amino acid substitution ADM_329 commonName His447 ADM_329 alias NM_002087.2:c.1341C>T ADM_329 protEffect NP_002078.1:p.H447 ADM_329 comment Silent point mutation in coding region ADM_330 commonName Trp541Cys ADM_330 alias NM_002087.2:c.1623G>C ADM_330 protEffect NP_002078.1:p.W541C ADM_330 comment Point mutation in coding region predicting an amino acid substitution ADM_331 commonName Ala237fs ADM_331 alias NM_002087.2:c.0 ADM_331 protEffect NP_002078.1:p.A237WfsX4 ADM_331 disease phenotype-associated ADM_331 phenoCommon Frontotemporal Dementia / Primary Progressive Aphasia ADM_331 comment "Point mutation in intron 7 splice acceptor site predicted to cause exon 8 skipping, frameshift and premature translation termination, resulting in nonsense-mediated mRNA decay" ADM_332 commonName Leu226Phe ADM_332 alias NM_000021.2:c.676C>T ADM_332 protEffect NP_000012.1:p.L226F ADM_332 disease phenotype-associated ADM_332 phenoCommon Alzheimer Disease / Frontotemporal Dementia ADM_332 comment Point mutation in coding region predicting an amino acid substitution ADM_334 commonName IVS9-10G>T;g(-10)t ADM_334 disease phenotype-associated ADM_334 phenoCommon Frontotemporal Dementia ADM_334 comment Point mutation in intronic region strengthening the polypyrimidine tract and affecting splicing of exon 10 ADM_335 commonName Ser120Tyr ADM_335 alias NM_002087.2:c.359C>A ADM_335 protEffect NP_002078.1:p.S120Y ADM_335 comment Point mutation in coding region predicting an amino acid substitution ADM_336 commonName Pro392 ADM_336 alias NM_002087.2:c.1176A>C ADM_336 protEffect NP_002078.1:p.P392 ADM_336 comment Silent point mutation in coding region ADM_337 commonName Val141Ile ADM_337 alias NM_002087.2:c.421G>A ADM_337 protEffect NP_002078.1:p.V141I ADM_337 disease not phenotype-associated ADM_337 phenoCommon No Phenotype ADM_337 comment Point mutation in coding region predicting an amino acid substitution ADM_338 commonName Pro458Leu ADM_338 alias NM_002087.2:c.1373C>T ADM_338 protEffect NP_002078.1:p.P458L ADM_338 disease not phenotype-associated ADM_338 phenoCommon No Phenotype ADM_338 comment Point mutation in coding region predicting an amino acid substitution ADM_339 commonName Arg556Cys ADM_339 alias NM_002087.2:c.1666C>T ADM_339 protEffect NP_002078.1:p.R556C ADM_339 disease not phenotype-associated ADM_339 phenoCommon No Phenotype ADM_339 comment Point mutation in coding region predicting an amino acid substitution ADM_340 commonName IVS1+3A>T ADM_340 alias NM_002087.2:c.-8_-7ins3823;c.0 ADM_340 protEffect NP_002078.1:p.0 ADM_340 disease phenotype-associated ADM_340 phenoCommon Frontotemporal Dementia ADM_340 comment Point mutation in intron 1 splice donor site causing intron 1 retention resulting in nuclear mRNA degradation ADM_341 commonName Val121fs ADM_341 alias NM_002087.2:c.361delG ADM_341 protEffect NP_002078.1:p.V121WfsX135 ADM_341 disease phenotype-associated ADM_341 phenoCommon Frontotemporal Dementia ADM_341 comment "Single nucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay" ADM_342 commonName Gln130fs ADM_342 alias NM_002087.2:c.384_387delTAGT ADM_342 protEffect NP_002078.1:p.Q130SfsX125 ADM_342 disease phenotype-associated ADM_342 phenoCommon Frontotemporal Dementia ADM_342 comment "Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay" ADM_343 commonName Cys157fs ADM_343 alias NM_002087.2:c.468_474delCTGCTGT ADM_343 protEffect NP_002078.1:p.C157KfsX97 ADM_343 disease phenotype-associated ADM_343 phenoCommon Frontotemporal Dementia ADM_343 comment "Heptanucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay" ADM_344 commonName Cys314X ADM_344 alias NM_002087.2:c.942C>A ADM_344 protEffect NP_002078.1:p.C413X ADM_344 disease phenotype-associated ADM_344 phenoCommon Frontotemporal Dementia ADM_344 comment Point mutation in coding region creating a premature termination codon predicted to result in nonsense-mediated mRNA decay ADM_345 commonName Cys366fs ADM_345 alias NM_002087.2:c.1095_1096delCT ADM_345 protEffect NP_002078.1:p.C366fsX1 ADM_345 disease phenotype-associated ADM_345 phenoCommon Frontotemporal Dementia ADM_345 comment Dinucleotide deletion in coding region causing frameshift and premature translation termination predicted to result in nonsense-mediated mRNA decay ADM_346 commonName Gln401X ADM_346 alias NM_002087.2:c.1201C>T ADM_346 protEffect NP_002078.1:p.Q401X ADM_346 disease phenotype-associated ADM_346 phenoCommon Frontotemporal Dementia ADM_346 comment Point mutation in coding region creating a premature termination codon predicted to result in nonsense-mediated mRNA decay ADM_347 commonName Ala412fs ADM_347 alias NM_002087.2:c.1232_1233insGT ADM_347 protEffect NP_002078.1:p.A412fsX1 ADM_347 disease phenotype-associated ADM_347 phenoCommon Frontotemporal Dementia ADM_347 comment Dinucleotide insertion in coding region causing frameshift and premature translation termination predicted to result in nonsense-mediated mRNA decay ADM_348 commonName Pro34 ADM_348 alias NM_002087.2:c.102C>T ADM_348 protEffect NP_002078.1:p.P34 ADM_348 comment Silent point mutation in coding region ADM_349 commonName Cys565 ADM_349 alias NM_002087.2:c.1695C>T ADM_349 protEffect NP_002078.1:p.C565 ADM_349 comment Silent point mutation in coding region ADM_350 commonName Pro248Leu ADM_350 alias NM_002087.2:c.743C>T ADM_350 protEffect NP_002078.1:p.P248L ADM_350 comment Point mutation in coding region predicting an amino acid substitution ADM_351 commonName Ser258Asn ADM_351 alias NM_002087.2:c.773G>A ADM_351 protEffect NP_002078.1:p.S258N ADM_351 comment Point mutation in coding region predicting an amino acid substitution ADM_353 commonName Arg432Cys ADM_353 alias NM_002087.2:c.1294C>T ADM_353 protEffect NP_002078.1:p.R432C ADM_353 comment Point mutation in coding region predicting an amino acid substitution ADM_354 commonName Trp304fs ADM_354 alias NM_002087.2:c.0 ADM_354 protEffect NP_002078.1:p.W304GfsX57 ADM_354 disease phenotype-associated ADM_354 phenoCommon Frontotemporal Dementia ADM_354 comment Single nucleotide deletion in coding region causing frameshift and premature translation termination resulting in nonsense-mediated mRNA decay ADM_355 commonName Cys495 ADM_355 alias NM_002087.2:c.1485C>T ADM_355 protEffect NP_002078.1:p.C495 ADM_355 comment Silent point mutation in coding region ADM_356 commonName Ser106Asn ADM_356 alias NM_002087.2:c.317G>A ADM_356 protEffect NP_002078.1:p.S106N ADM_356 disease not phenotype-associated ADM_356 phenoCommon No Phenotype ADM_356 comment Point mutation in coding region predicting an amino acid substitution ADM_357 commonName Cys158Tyr ADM_357 alias NM_002087.2:c.473G>A ADM_357 protEffect NP_002078.1:p.C158Y ADM_357 disease not phenotype-associated ADM_357 phenoCommon No Phenotype ADM_357 comment Point mutation in coding region predicting an amino acid substitution ADM_358 commonName Arg212Gln ADM_358 alias NM_002087.2:c.635G>A ADM_358 protEffect NP_002078.1:p.R212Q ADM_358 disease not phenotype-associated ADM_358 phenoCommon No Phenotype ADM_358 comment Point mutation in coding region predicting an amino acid substitution ADM_359 commonName Thr220Ser ADM_359 alias NM_002087.2:c.658A>T ADM_359 protEffect NP_002078.1:p.T220S ADM_359 disease not phenotype-associated ADM_359 phenoCommon No Phenotype ADM_359 comment Point mutation in coding region predicting an amino acid substitution ADM_360 commonName Leu261Ile ADM_360 alias NM_002087.2:c.781C>A ADM_360 protEffect NP_002078.1:p.L261I ADM_360 disease not phenotype-associated ADM_360 phenoCommon No Phenotype ADM_360 comment Point mutation in coding region predicting an amino acid substitution ADM_361 commonName Thr268 ADM_361 alias NM_002087.2:c.804G>A ADM_361 protEffect NP_002078.1:p.T268 ADM_361 disease not phenotype-associated ADM_361 phenoCommon No Phenotype ADM_361 comment Silent point mutation in coding region ADM_362 commonName Lys332 ADM_362 alias NM_002087.2:c.996G>A ADM_362 protEffect NP_002078.1:p.K332 ADM_362 disease not phenotype-associated ADM_362 phenoCommon No Phenotype ADM_362 comment Silent point mutation in coding region ADM_363 commonName Pro470Leu ADM_363 alias NM_002087.2:c.1409C>T ADM_363 protEffect NP_002078.1:p.P470L ADM_363 disease not phenotype-associated ADM_363 phenoCommon No Phenotype ADM_363 comment Point mutation in coding region predicting an amino acid substitution ADM_364 commonName Cys475 ADM_364 alias NM_002087.2:c.1425C>T ADM_364 protEffect NP_002078.1:p.C475 ADM_364 disease not phenotype-associated ADM_364 phenoCommon No Phenotype ADM_364 comment Silent point mutation in coding region ADM_365 commonName Val550Ile ADM_365 alias NM_002087.2:c.1648G>A ADM_365 protEffect NP_002078.1:p.V550I ADM_365 disease not phenotype-associated ADM_365 phenoCommon No Phenotype ADM_365 comment Point mutation in coding region predicting an amino acid substitution ADM_366 commonName Arg278Ser ADM_366 alias NM_000021.2:c.834A>C ADM_366 protEffect NP_000012.1:p.R278S ADM_366 disease phenotype-associated ADM_366 phenoCommon Alzheimer Disease / Spastic Paraparesis ADM_366 comment Point mutation in coding region predicting an amino acid substitution ADM_367 commonName Leu420Arg ADM_367 alias NM_000021.2:c.1259T>C ADM_367 protEffect NP_000012.1:p.L420R ADM_367 disease phenotype-associated ADM_367 phenoCommon Alzheimer Disease ADM_367 comment Point mutation in coding region predicting an amino acid substitution ADM_368 commonName Leu166del ADM_368 alias NM_000021.2:c.496_498delCTT ADM_368 protEffect NP_000012.1:p.L166del ADM_368 disease phenotype-associated ADM_368 phenoCommon Alzheimer Disease ADM_368 comment Trinucleotide deletion predicted to result in deletion of 1 amino acid ADM_369 commonName Met233Leu ADM_369 alias NM_000021.2:c.697A>T ADM_369 protEffect NP_000012.1:p.M233L ADM_369 disease phenotype-associated ADM_369 phenoCommon Frontotemporal Dementia ADM_369 comment Point mutation in coding region predicting an amino acid substitution ADM_371 commonName Thr382fs ADM_371 alias NM_002087.2:c.1144_1145insA ADM_371 protEffect NP_002078.1:p.T382NfsX32 ADM_371 disease phenotype-associated ADM_371 phenoCommon Frontotemporal Dementia ADM_371 comment "Single nucleotide insertion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay" ADM_372 commonName Leu53Pro ADM_372 alias NM_002087.2:c.158T>C ADM_372 protEffect NP_002078.1:p.L53P ADM_372 comment Point mutation in coding region predicting an amino acid substitution ADM_373 commonName Ala85Val ADM_373 alias NM_000447.1:c.254C>T ADM_373 protEffect NP_000438.1:p.A85V ADM_373 disease phenotype-associated ADM_373 phenoCommon Alzheimer Disease ADM_373 comment Point mutation in coding region predicting an amino acid substitution ADM_374 commonName Val363Ile ADM_374 alias BN000503.1:c.2092G>A ADM_374 protEffect CAG26750.1:p.V698I ADM_374 disease phenotype-associated ADM_374 phenoCommon Progressive Nonfluent Aphasia ADM_374 comment Point mutation in coding region predicting an amino acid substitution ADM_375 commonName Arg110X ADM_375 alias NM_002087.2:c.328C>T ADM_375 protEffect NP_002078.1:p.R110X ADM_375 disease phenotype-associated ADM_375 phenoCommon Frontotemporal Dementia ADM_375 comment Point mutation in coding region creating a premature termination codon resulting in nonsense-mediated mRNA decay ADM_376 commonName Gln337X ADM_376 alias NM_002087.2:c.1009C>T ADM_376 protEffect NP_002078.1:p.Q337X ADM_376 disease phenotype-associated ADM_376 phenoCommon Frontotemporal Dementia ADM_376 comment Point mutation in coding region creating a premature termination codon resulting in nonsense-mediated mRNA decay ADM_377 commonName Pro301Thr ADM_377 alias BN000503.1:c.1906C>A ADM_377 protEffect CAG26750.1:p.P636T ADM_377 disease phenotype-associated ADM_377 phenoCommon Frontotemporal Dementia ADM_377 comment Point mutation in coding region predicting an amino acid substitution ADM_378 commonName Danish CHMP2B ADM_378 alias NM_014043.2:c.531_532ins201;c.532_541del ADM_378 protEffect NP_054762.2:p.M178VfsX2;p.M178LfsX30 ADM_378 disease phenotype-associated ADM_378 phenoCommon Frontotemporal Dementia ADM_378 comment "Point mutation in intron 5 splice acceptor site causing intron 5 retention and cryptic splicing, predicted to result in 3' protein truncation" ADM_379 commonName Asp148Tyr ADM_379 alias NM_014043.2:c.442G>T ADM_379 protEffect NP_054762.2:p.D148Y ADM_379 disease phenotype-associated ADM_379 phenoCommon Frontotemporal Dementia ADM_379 comment Point mutation in coding region predicting an amino acid substitution ADM_380 commonName Arg186X;Afrikaner CHMP2B ADM_380 alias NM_014043.2:c.556C>T ADM_380 protEffect NP_054762.2:p.R186X ADM_380 comment "Point mutation in coding region creating a premature termination codon, predicted to result in 3' protein truncation" ADM_381 commonName Thr9 ADM_381 alias NM_014043.2:c.27C>T ADM_381 protEffect NP_054762.2:p.T9 ADM_381 disease not phenotype-associated ADM_381 phenoCommon No Phenotype ADM_381 comment Silent point mutation in coding region ADM_382 commonName Thr104 ADM_382 alias NM_014043.2:c.312C>T ADM_382 protEffect NP_054762.2:p.T104 ADM_382 disease not phenotype-associated ADM_382 phenoCommon No Phenotype ADM_382 comment Silent point mutation in coding region ADM_383 commonName Thr124 ADM_383 alias NM_014043.2:c.372A>C ADM_383 protEffect NP_054762.2:p.124 ADM_383 disease not phenotype-associated ADM_383 phenoCommon No Phenotype ADM_383 comment Silent point mutation in coding region ADM_384 commonName Ile29Val ADM_384 alias NM_014043.2:c.85A>G ADM_384 protEffect NP_054762.2:p.I29V ADM_384 comment Point mutation in coding region predicting an amino acid substitution ADM_385 commonName Gln206His ADM_385 alias NM_014043.2:c.618A>C ADM_385 protEffect NP_054762.2:p.Q206H ADM_385 disease phenotype-associated ADM_385 phenoCommon Motor Neuron Disease ADM_385 comment Point mutation in coding region predicting an amino acid substitution ADM_386 commonName Gln165X ADM_386 alias NM_014043.2:c.493C>T ADM_386 protEffect NP_054762.2:p.Q165X ADM_386 disease phenotype-associated ADM_386 phenoCommon Frontotemporal Dementia ADM_386 comment "Point mutation in coding region creating a premature termination codon, predicted to result in 3' protein truncation" ADM_387 commonName Asn143Ser ADM_387 alias NM_014043.2:c.428A>G ADM_387 protEffect NP_054762.2:p.N143S ADM_387 disease phenotype-associated ADM_387 phenoCommon Corticobasal Syndrome ADM_387 comment Point mutation in coding region predicting an amino acid substitution DMD:c.3409C>T protEffect DMD:p.Gln1137Stop DMD:c.3413G>A protEffect DMD:p.Trp1138Stop DMD:c.3423G>T protEffect DMD:p.Met1141Ile DMD:c.3427C>T protEffect DMD:p.Gln1143Stop DMD:c.3430C>T protEffect DMD:p.Gln1144Stop DMD:c.3432G>A protEffect DMD:p.Gln1144Gln DMD:c.3445A>T protEffect DMD:p.Lys1149Stop DMD:c.3469G>T protEffect DMD:p.Glu1157Stop DMD:c.3472A>T protEffect DMD:p.Lys1158Stop DMD:c.347T>C protEffect DMD:p.Leu116Pro DMD:c.3500C>G protEffect DMD:p.Ser1167Stop DMD:c.3513A>G protEffect DMD:p.Glu1171Glu DMD:c.3515G>A protEffect DMD:p.Trp1172Stop DMD:c.3516G>A protEffect DMD:p.Trp1172Stop DMD:c.3523C>T protEffect DMD:p.Gln1175Stop DMD:c.3535G>T protEffect DMD:p.Glu1179Stop DMD:c.3543T>G protEffect DMD:p.Leu1181Leu DMD:c.3544G>T protEffect DMD:p.Glu1182Stop DMD:c.354G>A protEffect DMD:p.Trp118Stop DMD:c.3556G>T protEffect DMD:p.Glu1186Stop DMD:c.355C>T protEffect DMD:p.Gln119Stop DMD:c.3562A>T protEffect DMD:p.Lys1188Stop DMD:c.3580C>T protEffect DMD:p.Gln1194Stop DMD:c.3595G>T protEffect DMD:p.Glu1199Stop DMD:c.3613G>A protEffect DMD:p.Glu1205Lys DMD:c.361A>T protEffect DMD:p.Lys121Stop DMD:c.3622C>T protEffect DMD:p.Gln1208Stop DMD:c.3631G>T protEffect DMD:p.Glu1211Stop DMD:c.3679C>T protEffect DMD:p.Gln1227Stop DMD:c.3700G>T protEffect DMD:p.Glu1234Stop DMD:c.3705C>T protEffect DMD:p.Ala1235Ala DMD:c.3709A>T protEffect DMD:p.Lys1237Stop DMD:c.3734C>T protEffect DMD:p.Thr1245Ile DMD:c.3742C>T protEffect DMD:p.Gln1248Stop DMD:c.3746G>A protEffect DMD:p.Trp1249Stop DMD:c.3795G>A protEffect DMD:p.Trp1265Stop DMD:c.3801T>A protEffect DMD:p.Cys1267Stop DMD:c.3804G>A protEffect DMD:p.Trp1268Stop DMD:c.3822C>A protEffect DMD:p.Tyr1274Stop DMD:c.3822C>G protEffect DMD:p.Tyr1274Stop DMD:c.3832G>C protEffect DMD:p.Ala1278Pro DMD:c.3868A>T protEffect DMD:p.Lys1290Stop DMD:c.3892G>T protEffect DMD:p.Gly1298Stop DMD:c.392T>A protEffect DMD:p.Leu131Stop DMD:c.3935T>A protEffect DMD:p.Leu1312Stop DMD:c.3940C>T protEffect DMD:p.Arg1314Stop DMD:c.3947C>A protEffect DMD:p.Ser1316Stop DMD:c.3952G>C protEffect DMD:p.Asp1318His DMD:c.3964C>T protEffect DMD:p.Gln1322Stop DMD:c.3970C>T protEffect DMD:p.Arg1324Cys DMD:c.397C>T protEffect DMD:p.Gln133Stop DMD:c.3982C>T protEffect DMD:p.Gln1328Stop DMD:c.4000G>T protEffect DMD:p.Gly1334Stop DMD:c.4012G>T protEffect DMD:p.Glu1338Stop DMD:c.4033G>T protEffect DMD:p.Glu1345Stop DMD:c.4057G>T protEffect DMD:p.Glu1353Stop DMD:c.4064A>T protEffect DMD:p.His1355Leu DMD:c.4071G>C protEffect DMD:p.Glu1357Asp DMD:c.4084C>T protEffect DMD:p.Gln1362Stop DMD:c.4087A>T protEffect DMD:p.Lys1363Stop DMD:c.4099C>T protEffect DMD:p.Gln1367Stop DMD:c.409G>T protEffect DMD:p.Glu137Stop DMD:c.4108C>T protEffect DMD:p.Gln1370Stop DMD:c.4117C>T protEffect DMD:p.Gln1373Stop DMD:c.4131A>T protEffect DMD:p.Lys1377Asn DMD:c.4147C>T protEffect DMD:p.Gln1383Stop DMD:c.4150G>T protEffect DMD:p.Glu1384Stop DMD:c.4162T>G protEffect DMD:p.Phe1388Val DMD:c.4174C>T protEffect DMD:p.Gln1392Stop DMD:c.419T>A protEffect DMD:p.Leu140His DMD:c.4213C>T protEffect DMD:p.Gln1405Stop DMD:c.4240C>T protEffect DMD:p.Gln1414Stop DMD:c.4250T>A protEffect DMD:p.Leu1417Stop DMD:c.4275A>G protEffect DMD:p.Glu1425Glu DMD:c.4285A>T protEffect DMD:p.Lys1429Stop DMD:c.4294C>T protEffect DMD:p.Gln1432Stop DMD:c.429G>A protEffect DMD:p.Trp143Stop DMD:c.4303G>T protEffect DMD:p.Glu1435Stop DMD:c.431T>A protEffect DMD:p.Val144Asp DMD:c.433C>T protEffect DMD:p.Arg145Stop DMD:c.4352T>A protEffect DMD:p.Leu1451Stop DMD:c.4375C>T protEffect DMD:p.Arg1459Stop DMD:c.4384C>T protEffect DMD:p.Gln1462Stop DMD:c.4405C>T protEffect DMD:p.Gln1469Stop DMD:c.4406A>T protEffect DMD:p.Gln1469Leu DMD:c.440C>A protEffect DMD:p.Ser147Stop DMD:c.440C>G protEffect DMD:p.Ser147Stop DMD:c.4414C>T protEffect DMD:p.Gln1472Stop DMD:c.4483C>T protEffect DMD:p.Gln1495Stop DMD:c.450T>G protEffect DMD:p.Asn150Lys DMD:c.4518G>A protEffect DMD:p.Val1506Val DMD:c.4527T>A protEffect DMD:p.Tyr1509Stop DMD:c.4527T>G protEffect DMD:p.Tyr1509Stop DMD:c.4529A>G protEffect DMD:p.Lys1510Arg DMD:c.453T>A protEffect DMD:p.Tyr151Stop DMD:c.4570A>T protEffect DMD:p.Lys1524Stop DMD:c.457C>T protEffect DMD:p.Gln153Stop DMD:c.4591C>T protEffect DMD:p.Gln1531Stop DMD:c.4600C>T protEffect DMD:p.Gln1534Stop DMD:c.4606G>T protEffect DMD:p.Glu1536Stop DMD:c.4610A>T protEffect DMD:p.Asn1537Ile DMD:c.4618G>T protEffect DMD:p.Glu1540Stop DMD:c.4662G>C protEffect DMD:p.Glu1554Asp DMD:c.4666G>T protEffect DMD:p.Gly1556Stop DMD:c.4687A>T protEffect DMD:p.Lys1563Stop DMD:c.4693C>T protEffect DMD:p.Gln1565Stop DMD:c.4697T>A protEffect DMD:p.Leu1566Stop DMD:c.4702A>T protEffect DMD:p.Lys1568Stop DMD:c.4711A>T protEffect DMD:p.Lys1571Stop DMD:c.4729C>T protEffect DMD:p.Arg1577Stop DMD:c.4740G>T protEffect DMD:p.Met1580Ile DMD:c.474C>G protEffect DMD:p.Asn158Lys DMD:c.4757G>A protEffect DMD:p.Trp1586Stop DMD:c.4758G>A protEffect DMD:p.Trp1586Stop DMD:c.4777G>T protEffect DMD:p.Glu1593Stop DMD:c.4793C>A protEffect DMD:p.Ser1598Stop DMD:c.4838G>A protEffect DMD:p.Trp1613Stop DMD:c.4852C>T protEffect DMD:p.Gln1618Stop DMD:c.4864G>T protEffect DMD:p.Glu1622Stop DMD:c.4870C>T protEffect DMD:p.Gln1624Stop DMD:c.4877T>A protEffect DMD:p.Val1626Glu DMD:c.4878G>T protEffect DMD:p.Val1626Val DMD:c.487T>G protEffect DMD:p.Trp163Gly DMD:c.488G>A protEffect DMD:p.Trp163Stop DMD:c.4933A>T protEffect DMD:p.Lys1645Stop DMD:c.494A>T protEffect DMD:p.Asp165Val DMD:c.4954A>T protEffect DMD:p.Lys1652Stop DMD:c.496G>A protEffect DMD:p.Gly166Ser DMD:c.4996C>T protEffect DMD:p.Arg1666Stop DMD:c.5009G>A protEffect DMD:p.Trp1670Stop DMD:c.5010G>T protEffect DMD:p.Trp1670Cys DMD:c.5016T>A protEffect DMD:p.Asn1672Lys DMD:c.5021T>A protEffect DMD:p.Leu1674Stop DMD:c.5032C>T protEffect DMD:p.Gln1678Stop DMD:c.503C>A protEffect DMD:p.Ala168Asp DMD:c.5040C>T protEffect DMD:p.His1680His DMD:c.5044G>T protEffect DMD:p.Glu1682Stop DMD:c.5089C>T protEffect DMD:p.Gln1697Stop DMD:c.511G>C protEffect DMD:p.Ala171Pro DMD:c.5131C>T protEffect DMD:p.Gln1711Stop DMD:c.5134C>T protEffect DMD:p.Gln1712Stop DMD:c.5140G>T protEffect DMD:p.Glu1714Stop DMD:c.5144A>G protEffect DMD:p.Asp1715Gly DMD:c.5159T>A protEffect DMD:p.Leu1720Stop DMD:c.515T>A protEffect DMD:p.Leu172His DMD:c.5163G>C protEffect DMD:p.Lys1721Asn DMD:c.5167G>T protEffect DMD:p.Glu1723Stop DMD:c.5182C>T protEffect DMD:p.Arg1728Cys DMD:c.5188A>T protEffect DMD:p.Lys1730Stop DMD:c.5203C>T protEffect DMD:p.Arg1735Cys DMD:c.5234G>A protEffect DMD:p.Arg1745His DMD:c.5255T>G protEffect DMD:p.Leu1752Stop DMD:c.5260G>T protEffect DMD:p.Glu1754Stop DMD:c.5266C>T protEffect DMD:p.Gln1756Stop DMD:c.5280C>T protEffect DMD:p.Leu1760Leu DMD:c.5287C>T protEffect DMD:p.Arg1763Stop DMD:c.52A>T protEffect DMD:p.Lys18Stop DMD:c.5314A>T protEffect DMD:p.Lys1772Stop DMD:c.5341A>T protEffect DMD:p.Lys1781Stop DMD:c.5344G>T protEffect DMD:p.Glu1782Stop DMD:c.5350G>T protEffect DMD:p.Glu1784Stop DMD:c.5371C>T protEffect DMD:p.Gln1791Stop DMD:c.5398G>T protEffect DMD:p.Glu1800Stop DMD:c.5404C>T protEffect DMD:p.Gln1802Stop DMD:c.5407C>T protEffect DMD:p.Gln1803Stop DMD:c.5444A>G protEffect DMD:p.Asp1815Gly DMD:c.5459A>G protEffect DMD:p.Asn1820Ser DMD:c.5461G>T protEffect DMD:p.Glu1821Stop DMD:c.5476G>T protEffect DMD:p.Glu1826Stop DMD:c.5480T>A protEffect DMD:p.Leu1827Stop DMD:c.549G>A protEffect DMD:p.Trp183Stop DMD:c.54G>T protEffect DMD:p.Lys18Asn DMD:c.5530C>A protEffect DMD:p.Arg1844Arg DMD:c.5530C>T protEffect DMD:p.Arg1844Stop DMD:c.5533G>T protEffect DMD:p.Glu1845Stop DMD:c.5542A>T protEffect DMD:p.Lys1848Stop DMD:c.5551C>T protEffect DMD:p.Gln1851Stop DMD:c.5554C>T protEffect DMD:p.Gln1852Stop DMD:c.5561T>G protEffect DMD:p.Leu1854Stop DMD:c.5563C>T protEffect DMD:p.Gln1855Stop DMD:c.5608A>T protEffect DMD:p.Lys1870Stop DMD:c.5611A>T protEffect DMD:p.Lys1871Stop DMD:c.5615C>T protEffect DMD:p.Ala1872Val DMD:c.5637G>A protEffect DMD:p.Trp1879Stop DMD:c.5640T>A protEffect DMD:p.Tyr1880Stop DMD:c.5641C>T protEffect DMD:p.Gln1881Stop DMD:c.5646C>A protEffect DMD:p.Tyr1882Stop DMD:c.5653C>T protEffect DMD:p.Gln1885Stop DMD:c.565C>T protEffect DMD:p.Gln189Stop DMD:c.5671A>T protEffect DMD:p.Lys1891Stop DMD:c.568C>T protEffect DMD:p.Gln190Stop DMD:c.5699T>G protEffect DMD:p.Leu1900Stop DMD:c.5723A>T protEffect DMD:p.Asp1908Val DMD:c.5724T>C protEffect DMD:p.Asp1908Asp DMD:c.5725G>T protEffect DMD:p.Glu1909Stop DMD:c.572C>G protEffect DMD:p.Ser191Stop DMD:c.5752G>T protEffect DMD:p.Glu1918Stop DMD:c.5758C>T protEffect DMD:p.Gln1920Stop DMD:c.5773G>T protEffect DMD:p.Glu1925Stop DMD:c.5775G>A protEffect DMD:p.Glu1925Glu DMD:c.5800G>T protEffect DMD:p.Glu1934Stop DMD:c.580C>T protEffect DMD:p.Gln194Stop DMD:c.583C>T protEffect DMD:p.Arg195Stop DMD:c.5851C>T protEffect DMD:p.Gln1951Stop DMD:c.5867G>A protEffect DMD:p.Trp1956Stop DMD:c.587T>C protEffect DMD:p.Leu196Pro DMD:c.5893C>T protEffect DMD:p.Gln1965Stop DMD:c.5899C>T protEffect DMD:p.Arg1967Stop DMD:c.5902A>T protEffect DMD:p.Arg1968Stop DMD:c.5917C>T protEffect DMD:p.Gln1973Stop DMD:c.596C>A protEffect DMD:p.Ala199Glu DMD:c.5985T>G protEffect DMD:p.Tyr1995Stop DMD:c.6028G>T protEffect DMD:p.Ala2010Ser DMD:c.6037G>T protEffect DMD:p.Glu2013Stop DMD:c.6072T>A protEffect DMD:p.Cys2024Stop DMD:c.6103G>T protEffect DMD:p.Glu2035Stop DMD:c.6105G>T protEffect DMD:p.Glu2035Asp DMD:c.6117G>A protEffect DMD:p.Lys2039Lys DMD:c.6117G>C protEffect DMD:p.Lys2039Asn DMD:c.615T>A protEffect DMD:p.Tyr205Stop DMD:c.616C>T protEffect DMD:p.Gln206Stop DMD:c.6208G>T protEffect DMD:p.Glu2070Stop DMD:c.620T>G protEffect DMD:p.Leu207Stop DMD:c.6223C>T protEffect DMD:p.Gln2075Stop DMD:c.6238C>T protEffect DMD:p.Gln2080Stop DMD:c.6255G>A protEffect DMD:p.Trp2085Stop DMD:c.6276C>G protEffect DMD:p.Tyr2092Stop DMD:c.6283C>T protEffect DMD:p.Arg2095Stop DMD:c.6292C>T protEffect DMD:p.Arg2098Stop DMD:c.6310G>T protEffect DMD:p.Glu2104Stop DMD:c.6318G>A protEffect DMD:p.Trp2106Stop DMD:c.6322C>T protEffect DMD:p.Arg2108Cys DMD:c.6352C>T protEffect DMD:p.Gln2118Stop DMD:c.6364G>T protEffect DMD:p.Glu2122Stop DMD:c.6373C>T protEffect DMD:p.Gln2125Stop DMD:c.6391C>T protEffect DMD:p.Gln2131Stop DMD:c.6423C>A protEffect DMD:p.Tyr2141Stop DMD:c.6423C>G protEffect DMD:p.Tyr2141Stop DMD:c.6423C>T protEffect DMD:p.Tyr2141Tyr DMD:c.6429G>A protEffect DMD:p.Trp2143Stop DMD:c.6432T>A protEffect DMD:p.Tyr2144Stop DMD:c.6436A>T protEffect DMD:p.Lys2146Stop DMD:c.6445C>T protEffect DMD:p.Gln2149Stop DMD:c.6460C>T protEffect DMD:p.Gln2154Stop DMD:c.6463C>T protEffect DMD:p.Arg2155Trp DMD:c.6499G>T protEffect DMD:p.Glu2167Stop DMD:c.6544C>T protEffect DMD:p.Gln2182Stop DMD:c.6571C>T protEffect DMD:p.Arg2191Trp DMD:c.6576G>A protEffect DMD:p.Trp2192Stop DMD:c.6577C>T protEffect DMD:p.Gln2193Stop DMD:c.6592C>T protEffect DMD:p.Gln2198Stop DMD:c.6641C>A protEffect DMD:p.Ser2214Stop DMD:c.6649C>T protEffect DMD:p.Gln2217Stop DMD:c.6674T>A protEffect DMD:p.Leu2225Stop DMD:c.6674T>G protEffect DMD:p.Leu2225Stop DMD:c.6721G>T protEffect DMD:p.Gly2241Stop DMD:c.6730C>T protEffect DMD:p.Gln2244Stop DMD:c.6733C>T protEffect DMD:p.Gln2245Stop DMD:c.673A>T protEffect DMD:p.Lys225Stop DMD:c.6742G>T protEffect DMD:p.Glu2248Stop DMD:c.6790C>T protEffect DMD:p.Gln2264Stop DMD:c.6799C>T protEffect DMD:p.Leu2267Phe DMD:c.6805C>T protEffect DMD:p.Gln2269Stop DMD:c.6809T>G protEffect DMD:p.Leu2270Stop DMD:c.6828C>T protEffect DMD:p.Pro2276Pro DMD:c.6856G>T protEffect DMD:p.Glu2286Stop DMD:c.6862C>T protEffect DMD:p.Gln2288Stop DMD:c.6868A>T protEffect DMD:p.Lys2290Stop DMD:c.686T>A protEffect DMD:p.Leu229Stop DMD:c.6880A>T protEffect DMD:p.Lys2294Stop DMD:c.6896A>C protEffect DMD:p.Asn2299Thr DMD:c.6905G>A protEffect DMD:p.Trp2302Stop DMD:c.6906G>A protEffect DMD:p.Trp2302Stop DMD:c.691T>A protEffect DMD:p.Tyr231Asn DMD:c.691T>G protEffect DMD:p.Tyr231Asp DMD:c.6943G>T protEffect DMD:p.Glu2315Stop DMD:c.694A>T protEffect DMD:p.Ile232Phe DMD:c.6955C>T protEffect DMD:p.Gln2319Stop DMD:c.6958A>T protEffect DMD:p.Ile2320Leu DMD:c.696C>G protEffect DMD:p.Ile232Met DMD:c.7006C>T protEffect DMD:p.Gln2336Stop DMD:c.7010T>G protEffect DMD:p.Leu2337Stop DMD:c.7016A>C protEffect DMD:p.His2339Pro DMD:c.701C>A protEffect DMD:p.Ser234Stop DMD:c.7054G>T protEffect DMD:p.Glu2352Stop DMD:c.7075C>T protEffect DMD:p.Gln2359Stop DMD:c.7080A>G protEffect DMD:p.Glu2360Glu DMD:c.7085C>A protEffect DMD:p.Pro2362Gln DMD:c.7096C>A protEffect DMD:p.Gln2366Lys DMD:c.709C>T protEffect DMD:p.Gln237Stop DMD:c.7105G>T protEffect DMD:p.Glu2369Stop DMD:c.711A>G protEffect DMD:p.Gln237Gln DMD:c.712G>T protEffect DMD:p.Val238Phe DMD:c.7159C>T protEffect DMD:p.Gln2387Stop DMD:c.7183G>A protEffect DMD:p.Ala2395Thr DMD:c.7204A>T protEffect DMD:p.Lys2402Stop DMD:c.720T>G protEffect DMD:p.Pro240Pro DMD:c.721C>T protEffect DMD:p.Gln241Stop DMD:c.724C>T protEffect DMD:p.Gln242Stop DMD:c.7255G>T protEffect DMD:p.Glu2419Stop DMD:c.7339C>T protEffect DMD:p.Gln2447Stop DMD:c.735T>A protEffect DMD:p.Ile245Ile DMD:c.7436G>A protEffect DMD:p.Trp2479Stop DMD:c.745C>T protEffect DMD:p.Gln249Stop DMD:c.7471C>T protEffect DMD:p.Gln2491Stop DMD:c.748G>T protEffect DMD:p.Glu250Stop DMD:c.754G>T protEffect DMD:p.Glu252Stop DMD:c.7564C>T protEffect DMD:p.Gln2522Stop DMD:c.7576C>T protEffect DMD:p.Gln2526Stop DMD:c.7582G>T protEffect DMD:p.Glu2528Stop DMD:c.7620G>A protEffect DMD:p.Lys2540Lys DMD:c.7657C>T protEffect DMD:p.Arg2553Stop DMD:c.7672C>T protEffect DMD:p.Gln2558Stop DMD:c.7682G>A protEffect DMD:p.Trp2561Stop DMD:c.7693C>T protEffect DMD:p.Gln2565Stop DMD:c.7696G>T protEffect DMD:p.Glu2566Stop DMD:c.7720C>T protEffect DMD:p.Gln2574Stop DMD:c.7722G>C protEffect DMD:p.Gln2574His DMD:c.7728T>C protEffect DMD:p.Asn2576Asn DMD:c.7736T>A protEffect DMD:p.Leu2579Stop DMD:c.7755G>A protEffect DMD:p.Trp2585Stop DMD:c.7798A>T protEffect DMD:p.Arg2600Stop DMD:c.77A>G protEffect DMD:p.Asn26Ser DMD:c.7814C>G protEffect DMD:p.Ser2605Stop DMD:c.7817G>A protEffect DMD:p.Trp2606Stop DMD:c.7820A>T protEffect DMD:p.Lys2607Met DMD:c.7822G>T protEffect DMD:p.Glu2608Stop DMD:c.7855A>T protEffect DMD:p.Lys2619Stop DMD:c.7961A>G protEffect DMD:p.Asp2654Gly DMD:c.799C>T protEffect DMD:p.Gln267Stop DMD:c.79G>C protEffect DMD:p.Ala27Pro DMD:c.8006C>T protEffect DMD:p.Ser2669Phe DMD:c.8009G>A protEffect DMD:p.Trp2670Stop DMD:c.802T>C protEffect DMD:p.Leu268Leu DMD:c.8038C>T protEffect DMD:p.Arg2680Stop DMD:c.8044G>T protEffect DMD:p.Ala2682Ser DMD:c.8055A>G protEffect DMD:p.Glu2685Glu DMD:c.8069T>G protEffect DMD:p.Leu2690Stop DMD:c.8074C>T protEffect DMD:p.Gln2692Stop DMD:c.8098A>T protEffect DMD:p.Lys2700Stop DMD:c.811C>T protEffect DMD:p.Gln271Stop DMD:c.8146C>T protEffect DMD:p.Gln2716Stop DMD:c.8161A>T protEffect DMD:p.Lys2721Stop DMD:c.8176G>T protEffect DMD:p.Glu2726Stop DMD:c.8194A>T protEffect DMD:p.Lys2732Stop DMD:c.8209C>T protEffect DMD:p.Gln2737Stop DMD:c.8214G>A protEffect DMD:p.Trp2738Stop DMD:c.8219A>G protEffect DMD:p.Asp2740Gly DMD:c.821A>G protEffect DMD:p.Tyr274Cys DMD:c.8269G>T protEffect DMD:p.Glu2757Stop DMD:c.826C>T protEffect DMD:p.Gln276Stop DMD:c.829C>T protEffect DMD:p.Gln277Stop DMD:c.82C>T protEffect DMD:p.Gln28Stop DMD:c.831G>A protEffect DMD:p.Gln277Gln DMD:c.831G>T protEffect DMD:p.Gln277His DMD:c.8322G>T protEffect DMD:p.Leu2774Leu DMD:c.8326C>T protEffect DMD:p.Gln2776Stop DMD:c.8333G>A protEffect DMD:p.Arg2778His DMD:c.8353A>T protEffect DMD:p.Lys2785Stop DMD:c.8357G>A protEffect DMD:p.Trp2786Stop DMD:c.835A>G protEffect DMD:p.Thr279Ala DMD:c.8371A>T protEffect DMD:p.Lys2791Stop DMD:c.837G>A protEffect DMD:p.Thr279Thr DMD:c.8390G>C protEffect DMD:p.Arg2797Thr DMD:c.8416C>T protEffect DMD:p.Gln2806Stop DMD:c.8420G>A protEffect DMD:p.Trp2807Stop DMD:c.8443C>T protEffect DMD:p.Gln2815Stop DMD:c.8460G>A protEffect DMD:p.Trp2820Stop DMD:c.8464C>T protEffect DMD:p.Gln2822Stop DMD:c.8491C>T protEffect DMD:p.Gln2831Stop DMD:c.8496A>C protEffect DMD:p.Ala2832Ala DMD:c.8527A>T protEffect DMD:p.Lys2843Stop DMD:c.8571T>C protEffect DMD:p.Thr2857Thr DMD:c.8579C>A protEffect DMD:p.Pro2860His DMD:c.858T>G protEffect DMD:p.Tyr286Stop DMD:c.8608C>T protEffect DMD:p.Arg2870Stop DMD:c.8655C>A protEffect DMD:p.Tyr2885Stop DMD:c.8656C>T protEffect DMD:p.Gln2886Stop DMD:c.8668G>A protEffect DMD:p.Glu2890Lys DMD:c.8680G>T protEffect DMD:p.Glu2894Stop DMD:c.8686A>T protEffect DMD:p.Arg2896Stop DMD:c.8692C>T protEffect DMD:p.Gln2898Stop DMD:c.8713C>T protEffect DMD:p.Arg2905Stop DMD:c.8728G>T protEffect DMD:p.Glu2910Stop DMD:c.8729A>G protEffect DMD:p.Glu2910Gly DMD:c.8729A>T protEffect DMD:p.Glu2910Val DMD:c.8734A>G protEffect DMD:p.Asn2912Asp DMD:c.8745G>A protEffect DMD:p.Trp2915Stop DMD:c.8746G>T protEffect DMD:p.Glu2916Stop DMD:c.8762A>G protEffect DMD:p.His2921Arg DMD:c.8774G>A protEffect DMD:p.Trp2925Stop DMD:c.8775G>A protEffect DMD:p.Trp2925Stop DMD:c.8776C>T protEffect DMD:p.Gln2926Stop DMD:c.8791G>T protEffect DMD:p.Glu2931Stop DMD:c.8810A>G protEffect DMD:p.Gln2937Arg DMD:c.8833G>C protEffect DMD:p.Glu2945Gln DMD:c.883C>T protEffect DMD:p.Arg295Stop DMD:c.8852G>A protEffect DMD:p.Arg2951His DMD:c.8854C>T protEffect DMD:p.Gln2952Stop DMD:c.8872G>T protEffect DMD:p.Gly2958Stop DMD:c.8879G>A protEffect DMD:p.Trp2960Stop DMD:c.8914C>T protEffect DMD:p.Gln2972Stop DMD:c.8944C>T protEffect DMD:p.Arg2982Stop DMD:c.8945G>A protEffect DMD:p.Arg2982Gln DMD:c.897T>G protEffect DMD:p.Tyr299Stop DMD:c.8988T>C protEffect DMD:p.Asn2996Asn DMD:c.9001C>T protEffect DMD:p.Gln3001Stop DMD:c.9031C>T protEffect DMD:p.Pro3011Ser DMD:c.9033G>A protEffect DMD:p.Pro3011Pro DMD:c.903C>A protEffect DMD:p.Tyr301Stop DMD:c.903C>G protEffect DMD:p.Tyr301Stop DMD:c.9072G>A protEffect DMD:p.Trp3024Stop DMD:c.907C>T protEffect DMD:p.Gln303Stop DMD:c.9082C>T protEffect DMD:p.Gln3028Stop DMD:c.9084G>A protEffect DMD:p.Gln3028Gln DMD:c.9093C>T protEffect DMD:p.Val3031Val DMD:c.9094G>A protEffect DMD:p.Glu3032Lys DMD:c.9100C>T protEffect DMD:p.Arg3034Stop DMD:c.9109C>T protEffect DMD:p.Gln3037Stop DMD:c.9148C>T protEffect DMD:p.Gln3050Stop DMD:c.9176G>A protEffect DMD:p.Gly3059Asp DMD:c.9182G>A protEffect DMD:p.Trp3061Stop DMD:c.9183G>A protEffect DMD:p.Trp3061Stop DMD:c.9197C>A protEffect DMD:p.Ser3066Stop DMD:c.9216C>A protEffect DMD:p.Tyr3072Stop DMD:c.9216C>G protEffect DMD:p.Tyr3072Stop DMD:c.9284T>G protEffect DMD:p.Leu3095Stop DMD:c.9291C>T protEffect DMD:p.Asp3097Asp DMD:c.9337C>T protEffect DMD:p.Arg3113Stop DMD:c.9346C>T protEffect DMD:p.Gln3116Stop DMD:c.9360C>A protEffect DMD:p.Cys3120Stop DMD:c.9380C>G protEffect DMD:p.Ser3127Stop DMD:c.9398T>A protEffect DMD:p.Leu3133Stop DMD:c.9403C>T protEffect DMD:p.Gln3135Stop DMD:c.9427C>T protEffect DMD:p.Gln3143Stop DMD:c.9445C>T protEffect DMD:p.Gln3149Stop DMD:c.9461T>A protEffect DMD:p.Leu3154Stop DMD:c.9519C>A protEffect DMD:p.Leu3173Leu DMD:c.9560A>G protEffect DMD:p.Asp3187Gly DMD:c.9568C>T protEffect DMD:p.Arg3190Stop DMD:c.956C>G protEffect DMD:p.Ser319Stop DMD:c.9619T>C protEffect DMD:p.Cys3207Arg DMD:c.9640A>T protEffect DMD:p.Lys3214Stop DMD:c.9651C>A protEffect DMD:p.Tyr3217Stop DMD:c.9655T>C protEffect DMD:p.Phe3219Leu DMD:c.965T>A protEffect DMD:p.Leu322Stop DMD:c.9682T>C protEffect DMD:p.Phe3228Leu DMD:c.9691C>T protEffect DMD:p.Gln3231Stop DMD:c.9695G>A protEffect DMD:p.Arg3232His DMD:c.9739C>T protEffect DMD:p.Gln3247Stop DMD:c.9748G>T protEffect DMD:p.Glu3250Stop DMD:c.9804A>G protEffect DMD:p.Gln3268Gln DMD:c.9851G>A protEffect DMD:p.Trp3284Stop DMD:c.9862G>T protEffect DMD:p.Glu3288Stop DMD:c.986C>G protEffect DMD:p.Ser329Stop DMD:c.9882G>A protEffect DMD:p.Trp3294Stop DMD:c.9913G>T protEffect DMD:p.Glu3305Stop DMD:c.9928C>T protEffect DMD:p.Gln3310Stop DMD:c.9931G>C protEffect DMD:p.Ala3311Pro DMD:c.9934A>G protEffect DMD:p.Lys3312Glu DMD:c.9938G>T protEffect DMD:p.Cys3313Phe DMD:c.9952G>T protEffect DMD:p.Glu3318Stop DMD:c.9955T>C protEffect DMD:p.Cys3319Arg DMD:c.9959C>G protEffect DMD:p.Pro3320Arg DMD:c.9978C>G protEffect DMD:p.Tyr3326Stop DMD:c.998C>A protEffect DMD:p.Ser333Stop DMD:c.9995T>G protEffect DMD:p.Phe3332Cys DMD:c.9G>A protEffect DMD:p.Trp3Stop DPM3:c.254T>C protEffect DPM3:p.Leu85Ser DTNA:c.362C>T protEffect DTNA:p.Pro121Leu DYSF:c.1004G>C protEffect DYSF:p.Gly335Ala DYSF:c.1016C>G protEffect DYSF:p.Thr339Arg DYSF:c.1020C>A protEffect DYSF:p.Ser340Arg DYSF:c.1020C>G protEffect DYSF:p.Ser340Arg DYSF:c.1054C>A protEffect DYSF:p.Leu352Met DYSF:c.1101C>A protEffect DYSF:p.Asn367Lys DYSF:c.1120G>C protEffect DYSF:p.Val374Leu DYSF:c.1155C>A protEffect DYSF:p.Val385Val DYSF:c.1165G>C protEffect DYSF:p.Glu389Gln DYSF:c.1168G>A protEffect DYSF:p.Asp390Asn DYSF:c.1176G>A protEffect DYSF:p.Pro392Pro DYSF:c.1177C>T protEffect DYSF:p.Gln393Stop DYSF:c.1186G>C protEffect DYSF:p.Asp396His DYSF:c.1276G>A protEffect DYSF:p.Gly426Arg DYSF:c.1277G>T protEffect DYSF:p.Gly426Val DYSF:c.1357C>T protEffect DYSF:p.Pro453Ser DYSF:c.1362C>T protEffect DYSF:p.Ser454Ser DYSF:c.1368C>A protEffect DYSF:p.Cys456Stop DYSF:c.1368C>G protEffect DYSF:p.Cys456Trp DYSF:c.1369G>A protEffect DYSF:p.Glu457Lys DYSF:c.1402C>T protEffect DYSF:p.Arg468Cys DYSF:c.1448C>A protEffect DYSF:p.Ser483Stop DYSF:c.154T>C protEffect DYSF:p.Trp52Arg DYSF:c.1555G>A protEffect DYSF:p.Gly519Arg DYSF:c.1566C>G protEffect DYSF:p.Tyr522Stop DYSF:c.1617C>G protEffect DYSF:p.Tyr539Stop DYSF:c.1658G>A protEffect DYSF:p.Arg553His DYSF:c.1663C>T protEffect DYSF:p.Arg555Trp DYSF:c.1717G>T protEffect DYSF:p.Glu573Stop DYSF:c.1731G>A protEffect DYSF:p.Ala577Ala DYSF:c.1758C>A protEffect DYSF:p.Tyr586Stop DYSF:c.1758C>G protEffect DYSF:p.Tyr586Stop DYSF:c.1813C>T protEffect DYSF:p.Gln605Stop DYSF:c.1827T>C protEffect DYSF:p.Asp609Asp DYSF:c.1834C>T protEffect DYSF:p.Gln612Stop DYSF:c.1852G>A protEffect DYSF:p.Gly618Arg DYSF:c.1860C>T protEffect DYSF:p.Tyr620Tyr DYSF:c.1861G>A protEffect DYSF:p.Gly621Arg DYSF:c.1873G>T protEffect DYSF:p.Asp625Tyr DYSF:c.1911C>A protEffect DYSF:p.Tyr637Stop DYSF:c.1980G>A protEffect DYSF:p.Val660Val DYSF:c.2073G>A protEffect DYSF:p.Gln691Gln DYSF:c.2113G>A protEffect DYSF:p.Val705Met DYSF:c.2192C>G protEffect DYSF:p.Pro731Arg DYSF:c.2217C>A protEffect DYSF:p.Tyr739Stop DYSF:c.2283C>A protEffect DYSF:p.Gly761Gly DYSF:c.2367C>A protEffect DYSF:p.Ser789Arg DYSF:c.2372C>G protEffect DYSF:p.Pro791Arg DYSF:c.2393T>C protEffect DYSF:p.Leu798Pro DYSF:c.2452C>T protEffect DYSF:p.Arg818Trp DYSF:c.2456G>A protEffect DYSF:p.Arg819Gln DYSF:c.2494C>T protEffect DYSF:p.Gln832Stop DYSF:c.2500A>G protEffect DYSF:p.Ile834Val DYSF:c.251C>T protEffect DYSF:p.Ala84Val DYSF:c.2641A>C protEffect DYSF:p.Thr881Pro DYSF:c.2659A>T protEffect DYSF:p.Lys887Stop DYSF:c.265C>T protEffect DYSF:p.Arg89Stop DYSF:c.2790G>C protEffect DYSF:p.Trp930Cys DYSF:c.2802G>A protEffect DYSF:p.Pro934Pro DYSF:c.2813T>G protEffect DYSF:p.Leu938Arg DYSF:c.2875C>T protEffect DYSF:p.Arg959Trp DYSF:c.2894G>A protEffect DYSF:p.Trp965Stop DYSF:c.2902A>T protEffect DYSF:p.Met968Leu DYSF:c.2974T>C protEffect DYSF:p.Trp992Arg DYSF:c.2975G>A protEffect DYSF:p.Trp992Stop DYSF:c.2996G>A protEffect DYSF:p.Trp999Stop DYSF:c.2997G>T protEffect DYSF:p.Trp999Cys DYSF:c.3028C>T protEffect DYSF:p.Gln1010Stop DYSF:c.3031G>C protEffect DYSF:p.Gly1011Arg DYSF:c.3035G>A protEffect DYSF:p.Trp1012Stop DYSF:c.3041A>G protEffect DYSF:p.Tyr1014Cys DYSF:c.3065G>A protEffect DYSF:p.Arg1022Gln DYSF:c.3086C>T protEffect DYSF:p.Pro1029Leu DYSF:c.3112C>T protEffect DYSF:p.Arg1038Stop DYSF:c.3113G>A protEffect DYSF:p.Arg1038Gln DYSF:c.3115C>T protEffect DYSF:p.Arg1039Trp DYSF:c.3116G>T protEffect DYSF:p.Arg1039Leu DYSF:c.3121C>T protEffect DYSF:p.Arg1041Cys DYSF:c.3126G>A protEffect DYSF:p.Trp1042Stop DYSF:c.3130C>A protEffect DYSF:p.Arg1044Ser DYSF:c.3137G>A protEffect DYSF:p.Arg1046His DYSF:c.3179G>C protEffect DYSF:p.Arg1060Thr DYSF:c.3307A>T protEffect DYSF:p.Lys1103Stop DYSF:c.331C>T protEffect DYSF:p.Gln111Stop DYSF:c.3477C>A protEffect DYSF:p.Tyr1159Stop DYSF:c.3478C>T protEffect DYSF:p.Gln1160Stop DYSF:c.3480G>A protEffect DYSF:p.Gln1160Gln DYSF:c.3618C>G protEffect DYSF:p.Tyr1206Stop DYSF:c.3624C>G protEffect DYSF:p.Ile1208Met DYSF:c.3683T>C protEffect DYSF:p.Leu1228Pro DYSF:c.3687C>A protEffect DYSF:p.Tyr1229Stop DYSF:c.3702T>C protEffect DYSF:p.Tyr1234Tyr DYSF:c.3721G>C protEffect DYSF:p.Gly1241Arg DYSF:c.3725G>A protEffect DYSF:p.Arg1242His DYSF:c.3802G>A protEffect DYSF:p.Gly1268Arg DYSF:c.3805G>T protEffect DYSF:p.Glu1269Stop DYSF:c.3826C>G protEffect DYSF:p.Leu1276Val DYSF:c.3832C>T protEffect DYSF:p.Gln1278Stop DYSF:c.383G>A protEffect DYSF:p.Gly128Glu DYSF:c.3892A>G protEffect DYSF:p.Ile1298Val DYSF:c.393C>T protEffect DYSF:p.Pro131Pro DYSF:c.3967C>T protEffect DYSF:p.Gln1323Stop DYSF:c.3972C>T protEffect DYSF:p.Asn1324Asn DYSF:c.3973A>G protEffect DYSF:p.Ile1325Val DYSF:c.3992G>T protEffect DYSF:p.Arg1331Leu DYSF:c.4003G>A protEffect DYSF:p.Glu1335Lys DYSF:c.4003G>T protEffect DYSF:p.Glu1335Stop DYSF:c.4004A>G protEffect DYSF:p.Glu1335Gly DYSF:c.4008C>A protEffect DYSF:p.Ile1336Ile DYSF:c.4022T>C protEffect DYSF:p.Leu1341Pro DYSF:c.4052A>G protEffect DYSF:p.Asn1351Ser DYSF:c.4068C>T protEffect DYSF:p.Ser1356Ser DYSF:c.4081T>C protEffect DYSF:p.Cys1361Arg DYSF:c.4089C>T protEffect DYSF:p.Gly1363Gly DYSF:c.4191C>G protEffect DYSF:p.Tyr1397Stop DYSF:c.4194C>A protEffect DYSF:p.Cys1398Stop DYSF:c.4253G>A protEffect DYSF:p.Gly1418Asp DYSF:c.4323G>A protEffect DYSF:p.Gln1441Gln DYSF:c.4390G>T protEffect DYSF:p.Glu1464Stop DYSF:c.4433G>A protEffect DYSF:p.Trp1478Stop DYSF:c.4439A>C protEffect DYSF:p.Lys1480Thr DYSF:c.4504C>T protEffect DYSF:p.Leu1502Leu DYSF:c.4514A>G protEffect DYSF:p.Tyr1505Cys DYSF:c.4577A>C protEffect DYSF:p.Lys1526Thr DYSF:c.4585C>T protEffect DYSF:p.Arg1529Trp DYSF:c.4628G>A protEffect DYSF:p.Gly1543Asp DYSF:c.4639G>C protEffect DYSF:p.Gly1547Arg DYSF:c.463G>A protEffect DYSF:p.Gly155Arg DYSF:c.4640G>A protEffect DYSF:p.Gly1547Asp DYSF:c.4720G>T protEffect DYSF:p.Gly1574Stop DYSF:c.4731G>A protEffect DYSF:p.Glu1577Glu DYSF:c.4742G>A protEffect DYSF:p.Arg1581His DYSF:c.4756C>T protEffect DYSF:p.Arg1586Stop DYSF:c.4794G>T protEffect DYSF:p.Lys1598Asn DYSF:c.4820T>C protEffect DYSF:p.Ile1607Thr DYSF:c.4867C>T protEffect DYSF:p.Leu1623Leu DYSF:c.4883G>T protEffect DYSF:p.Gly1628Val DYSF:c.490G>T protEffect DYSF:p.Gly164Stop DYSF:c.4943A>G protEffect DYSF:p.Tyr1648Cys DYSF:c.4969G>A protEffect DYSF:p.Glu1657Lys DYSF:c.4985C>G protEffect DYSF:p.Thr1662Arg DYSF:c.5033G>A protEffect DYSF:p.Cys1678Tyr DYSF:c.5033G>C protEffect DYSF:p.Cys1678Ser DYSF:c.5036G>A protEffect DYSF:p.Gly1679Glu DYSF:c.504T>C protEffect DYSF:p.Asp168Asp DYSF:c.5077C>T protEffect DYSF:p.Arg1693Trp DYSF:c.5078G>A protEffect DYSF:p.Arg1693Gln DYSF:c.509C>A protEffect DYSF:p.Ala170Glu DYSF:c.5105T>C protEffect DYSF:p.Leu1702Pro DYSF:c.5149C>T protEffect DYSF:p.Arg1717Trp DYSF:c.5194G>C protEffect DYSF:p.Glu1732Gln DYSF:c.5194G>T protEffect DYSF:p.Glu1732Stop DYSF:c.5200G>T protEffect DYSF:p.Glu1734Stop DYSF:c.5201A>G protEffect DYSF:p.Glu1734Gly DYSF:c.5243A>T protEffect DYSF:p.Glu1748Val DYSF:c.526C>T protEffect DYSF:p.Gln176Stop DYSF:c.5272C>T protEffect DYSF:p.Gln1758Stop DYSF:c.5289G>C protEffect DYSF:p.Glu1763Asp DYSF:c.5296G>T protEffect DYSF:p.Glu1766Stop DYSF:c.5302C>T protEffect DYSF:p.Arg1768Trp DYSF:c.5429G>A protEffect DYSF:p.Arg1810Lys DYSF:c.5444G>T protEffect DYSF:p.Cys1815Phe DYSF:c.5497G>T protEffect DYSF:p.Glu1833Stop DYSF:c.5509G>A protEffect DYSF:p.Asp1837Asn DYSF:c.5525G>A protEffect DYSF:p.Gly1842Asp DYSF:c.5529G>A protEffect DYSF:p.Trp1843Stop DYSF:c.5570A>G protEffect DYSF:p.His1857Arg DYSF:c.5626G>A protEffect DYSF:p.Asp1876Asn DYSF:c.565C>G protEffect DYSF:p.Leu189Val DYSF:c.5692A>G protEffect DYSF:p.Thr1898Ala DYSF:c.5713C>T protEffect DYSF:p.Arg1905Stop DYSF:c.5739T>G protEffect DYSF:p.Asn1913Lys DYSF:c.5765T>C protEffect DYSF:p.Leu1922Pro DYSF:c.5824T>G protEffect DYSF:p.Cys1942Gly DYSF:c.5829C>A protEffect DYSF:p.Ser1943Ser DYSF:c.5859A>C protEffect DYSF:p.Pro1953Pro DYSF:c.5884C>T protEffect DYSF:p.Gln1962Stop DYSF:c.5899G>A protEffect DYSF:p.Gly1967Ser DYSF:c.5903G>A protEffect DYSF:p.Trp1968Stop DYSF:c.5908C>T protEffect DYSF:p.Pro1970Ser DYSF:c.591C>G protEffect DYSF:p.Tyr197Stop DYSF:c.5999G>A protEffect DYSF:p.Arg2000Gln DYSF:c.6008G>T protEffect DYSF:p.Gly2003Val DYSF:c.6063C>T protEffect DYSF:p.Pro2021Pro DYSF:c.610C>T protEffect DYSF:p.Arg204Stop DYSF:c.6119G>A protEffect DYSF:p.Trp2040Stop DYSF:c.6124C>T protEffect DYSF:p.Arg2042Cys DYSF:c.6203C>T protEffect DYSF:p.Pro2068Leu DYSF:c.6217A>G protEffect DYSF:p.Met2073Val DYSF:c.691C>T protEffect DYSF:p.Gln231Stop DYSF:c.701G>A protEffect DYSF:p.Gly234Glu DYSF:c.757C>T protEffect DYSF:p.Arg253Trp DYSF:c.797T>C protEffect DYSF:p.Leu266Pro DYSF:c.851T>C protEffect DYSF:p.Ile284Thr DYSF:c.857T>A protEffect DYSF:p.Val286Glu DYSF:c.895G>A protEffect DYSF:p.Gly299Arg DYSF:c.895G>C protEffect DYSF:p.Gly299Arg DYSF:c.895G>T protEffect DYSF:p.Gly299Trp DYSF:c.896G>A protEffect DYSF:p.Gly299Glu DYSF:c.927C>G protEffect DYSF:p.Tyr309Stop DYSF:c.942C>T protEffect DYSF:p.His314His EMD:c.102C>G protEffect EMD:p.Tyr34Stop EMD:c.106A>T protEffect EMD:p.Lys36Stop EMD:c.123C>G protEffect EMD:p.Tyr41Stop EMD:c.130C>T protEffect EMD:p.Gln44Stop EMD:c.161C>T protEffect EMD:p.Ser54Phe EMD:c.177T>A protEffect EMD:p.Tyr59Stop EMD:c.1A>G protEffect EMD:p.Met1Val EMD:c.215A>T protEffect EMD:p.Asp72Val EMD:c.256C>T protEffect EMD:p.Gln86Stop EMD:c.282C>G protEffect EMD:p.Tyr94Stop EMD:c.2T>C protEffect EMD:p.Met1Thr EMD:c.2T>G protEffect EMD:p.Met1Arg EMD:c.315T>G protEffect EMD:p.Tyr105Stop EMD:c.325G>T protEffect EMD:p.Glu109Stop EMD:c.397C>T protEffect EMD:p.Gln133Stop EMD:c.399G>T protEffect EMD:p.Gln133His EMD:c.3G>A protEffect EMD:p.Met1Ile EMD:c.430G>T protEffect EMD:p.Glu144Stop EMD:c.436G>T protEffect EMD:p.Glu146Stop EMD:c.441C>A protEffect EMD:p.Cys147Stop EMD:c.445G>C protEffect EMD:p.Asp149His EMD:c.512C>A protEffect EMD:p.Ser171Stop EMD:c.543T>G protEffect EMD:p.Tyr181Stop EMD:c.546T>A protEffect EMD:p.Tyr182Stop EMD:c.547C>A protEffect EMD:p.Pro183Thr EMD:c.548C>A protEffect EMD:p.Pro183His EMD:c.57C>G protEffect EMD:p.Tyr19Stop EMD:c.600G>A protEffect EMD:p.Trp200Stop EMD:c.608G>A protEffect EMD:p.Arg203His EMD:c.655C>T protEffect EMD:p.Gln219Stop EMD:c.677G>A protEffect EMD:p.Trp226Stop EMD:c.682C>T protEffect EMD:p.Gln228Stop EMD:c.684G>T protEffect EMD:p.Gln228His FHL1:c.302G>T protEffect FHL1:p.Cys101Phe FHL1:c.310T>C protEffect FHL1:p.Cys104Arg FHL1:c.365G>C protEffect FHL1:p.Trp122Ser FHL1:c.367C>T protEffect FHL1:p.His123Tyr FHL1:c.395G>T protEffect FHL1:p.Cys132Phe FHL1:c.441C>T protEffect FHL1:p.Asp147Asp FHL1:c.449G>A protEffect FHL1:p.Cys150Tyr FHL1:c.457T>C protEffect FHL1:p.Cys153Arg FHL1:c.458G>A protEffect FHL1:p.Cys153Tyr FHL1:c.625T>C protEffect FHL1:p.Cys209Arg FHL1:c.672C>G protEffect FHL1:p.Cys224Trp FKRP:c.1003G>A protEffect FKRP:p.Ala335Thr FKRP:c.1012G>A protEffect FKRP:p.Val338Met FKRP:c.1016G>A protEffect FKRP:p.Arg339His FKRP:c.1016G>T protEffect FKRP:p.Arg339Leu FKRP:c.1021T>C protEffect FKRP:p.Trp341Arg FKRP:c.1023G>A protEffect FKRP:p.Trp341Stop FKRP:c.1034G>C protEffect FKRP:p.Gly345Ala FKRP:c.1054C>G protEffect FKRP:p.Arg352Gly FKRP:c.1073C>T protEffect FKRP:p.Pro358Leu FKRP:c.1078G>A protEffect FKRP:p.Asp360Asn FKRP:c.1078G>C protEffect FKRP:p.Asp360His FKRP:c.1087G>T protEffect FKRP:p.Val363Leu FKRP:c.1088T>G protEffect FKRP:p.Val363Gly FKRP:c.1117G>A protEffect FKRP:p.Gly373Ser FKRP:c.1154C>A protEffect FKRP:p.Ser385Stop FKRP:c.1164T>C protEffect FKRP:p.Asp388Asp FKRP:c.1171G>A protEffect FKRP:p.Gly391Ser FKRP:c.1171G>C protEffect FKRP:p.Gly391Arg FKRP:c.1188G>A protEffect FKRP:p.Lys396Lys FKRP:c.1201G>A protEffect FKRP:p.Asp401Asn FKRP:c.1210C>T protEffect FKRP:p.Arg404Cys FKRP:c.1213G>T protEffect FKRP:p.Val405Leu FKRP:c.1216C>T protEffect FKRP:p.Gln406Stop FKRP:c.1219T>G protEffect FKRP:p.Tyr407Asp FKRP:c.1224C>T protEffect FKRP:p.Ser408Ser FKRP:c.1242C>T protEffect FKRP:p.His414His FKRP:c.1253G>A protEffect FKRP:p.Trp418Stop FKRP:c.1314T>G protEffect FKRP:p.Asp438Glu FKRP:c.1318G>T protEffect FKRP:p.Glu440Stop FKRP:c.1325C>T protEffect FKRP:p.Pro442Leu FKRP:c.1341G>A protEffect FKRP:p.Gln447Gln FKRP:c.1343C>T protEffect FKRP:p.Pro448Leu FKRP:c.135C>T protEffect FKRP:p.Ala45Ala FKRP:c.1364C>A protEffect FKRP:p.Ala455Asp FKRP:c.1378C>T protEffect FKRP:p.Gln460Stop FKRP:c.1384C>T protEffect FKRP:p.Pro462Ser FKRP:c.1387A>G protEffect FKRP:p.Asn463Asp FKRP:c.1394A>C protEffect FKRP:p.Tyr465Ser FKRP:c.1405C>T protEffect FKRP:p.Leu469Leu FKRP:c.1415A>C protEffect FKRP:p.Lys472Thr FKRP:c.1433T>C protEffect FKRP:p.Ile478Thr FKRP:c.1486T>A protEffect FKRP:p.Stop496Arg FKRP:c.155T>A protEffect FKRP:p.Leu52Gln FKRP:c.160C>T protEffect FKRP:p.Arg54Trp FKRP:c.163G>C protEffect FKRP:p.Glu55Gln FKRP:c.192C>T protEffect FKRP:p.Pro64Pro FKRP:c.1A>G protEffect FKRP:p.Met1Val FKRP:c.201A>G protEffect FKRP:p.Val67Val FKRP:c.206C>A protEffect FKRP:p.Ser69Tyr FKRP:c.211C>G protEffect FKRP:p.Leu71Val FKRP:c.214C>T protEffect FKRP:p.Gln72Stop FKRP:c.235G>A protEffect FKRP:p.Val79Met FKRP:c.249C>T protEffect FKRP:p.Ala83Ala FKRP:c.265C>G protEffect FKRP:p.Pro89Ala FKRP:c.266C>G protEffect FKRP:p.Pro89Arg FKRP:c.266C>T protEffect FKRP:p.Pro89Leu FKRP:c.275C>G protEffect FKRP:p.Ala92Gly FKRP:c.278T>C protEffect FKRP:p.Leu93Pro FKRP:c.280C>T protEffect FKRP:p.Pro94Ser FKRP:c.283C>T protEffect FKRP:p.Arg95Cys FKRP:c.313C>T protEffect FKRP:p.Gln105Stop FKRP:c.328C>T protEffect FKRP:p.Arg110Trp FKRP:c.329G>C protEffect FKRP:p.Arg110Pro FKRP:c.341C>G protEffect FKRP:p.Ala114Gly FKRP:c.344C>T protEffect FKRP:p.Ser115Leu FKRP:c.362T>A protEffect FKRP:p.Val121Glu FKRP:c.374T>C protEffect FKRP:p.Phe125Ser FKRP:c.3G>T protEffect FKRP:p.Met1Ile FKRP:c.400C>T protEffect FKRP:p.Arg134Trp FKRP:c.427C>A protEffect FKRP:p.Arg143Ser FKRP:c.430A>G protEffect FKRP:p.Met144Val FKRP:c.437A>C protEffect FKRP:p.Glu146Ala FKRP:c.456C>G protEffect FKRP:p.Ser152Arg FKRP:c.469G>C protEffect FKRP:p.Ala157Pro FKRP:c.478G>T protEffect FKRP:p.Val160Phe FKRP:c.496G>T protEffect FKRP:p.Ala166Ser FKRP:c.499A>G protEffect FKRP:p.Arg167Gly FKRP:c.520A>T protEffect FKRP:p.Ser174Cys FKRP:c.535A>C protEffect FKRP:p.Thr179Pro FKRP:c.545A>G protEffect FKRP:p.Tyr182Cys FKRP:c.567C>T protEffect FKRP:p.Pro189Pro FKRP:c.585C>T protEffect FKRP:p.Asp195Asp FKRP:c.586G>A protEffect FKRP:p.Gly196Arg FKRP:c.586G>C protEffect FKRP:p.Gly196Arg FKRP:c.605T>A protEffect FKRP:p.Leu202Gln FKRP:c.606G>A protEffect FKRP:p.Leu202Leu FKRP:c.632C>T protEffect FKRP:p.Ser211Leu FKRP:c.636G>A protEffect FKRP:p.Ala212Ala FKRP:c.638C>T protEffect FKRP:p.Pro213Leu FKRP:c.63C>A protEffect FKRP:p.Leu21Leu FKRP:c.63C>T protEffect FKRP:p.Leu21Leu FKRP:c.648G>A protEffect FKRP:p.Arg216Arg FKRP:c.649C>A protEffect FKRP:p.Pro217Thr FKRP:c.654G>A protEffect FKRP:p.Val218Val FKRP:c.663C>A protEffect FKRP:p.Ser221Arg FKRP:c.731G>A protEffect FKRP:p.Arg244His FKRP:c.740C>A protEffect FKRP:p.Pro247Gln FKRP:c.745G>A protEffect FKRP:p.Ala249Thr FKRP:c.764G>A protEffect FKRP:p.Trp255Stop FKRP:c.823C>T protEffect FKRP:p.Arg275Cys FKRP:c.826C>A protEffect FKRP:p.Leu276Ile FKRP:c.836G>A protEffect FKRP:p.Trp279Stop FKRP:c.854A>C protEffect FKRP:p.Glu285Ala FKRP:c.878C>T protEffect FKRP:p.Thr293Ile FKRP:c.898G>A protEffect FKRP:p.Val300Met FKRP:c.899T>C protEffect FKRP:p.Val300Ala FKRP:c.914C>T protEffect FKRP:p.Pro305Leu FKRP:c.919T>A protEffect FKRP:p.Tyr307Asn FKRP:c.926A>G protEffect FKRP:p.Tyr309Cys FKRP:c.928G>T protEffect FKRP:p.Glu310Stop FKRP:c.934C>T protEffect FKRP:p.Arg312Cys FKRP:c.940A>C protEffect FKRP:p.Thr314Pro FKRP:c.941C>T protEffect FKRP:p.Thr314Met FKRP:c.946C>A protEffect FKRP:p.Pro316Thr FKRP:c.946C>T protEffect FKRP:p.Pro316Ser FKRP:c.947C>G protEffect FKRP:p.Pro316Arg FKRP:c.953G>A protEffect FKRP:p.Cys318Tyr FKRP:c.956T>G protEffect FKRP:p.Leu319Arg FKRP:c.962C>A protEffect FKRP:p.Ala321Glu FKRP:c.968G>A protEffect FKRP:p.Arg323His FKRP:c.983A>C protEffect FKRP:p.Tyr328Ser GK:c.1091G>A protEffect GK:p.Cys364Tyr GK:c.1212A>C protEffect GK:p.Glu404Asp GK:c.1225C>T protEffect GK:p.Gln409Stop GK:c.1232G>A protEffect GK:p.Arg411Gln GK:c.1255C>T protEffect GK:p.Arg419Stop GK:c.1301T>C protEffect GK:p.Met434Thr GK:c.1331A>G protEffect GK:p.Gln444Arg GK:c.1337A>T protEffect GK:p.Asp446Val GK:c.1525T>C protEffect GK:p.Trp509Arg GK:c.165G>A protEffect GK:p.Gln55Gln GK:c.182T>C protEffect GK:p.Leu61Pro GK:c.287C>T protEffect GK:p.Thr96Ile GK:c.593A>G protEffect GK:p.Asp198Gly GK:c.601A>G protEffect GK:p.Asn201Asp GK:c.784T>C protEffect GK:p.Cys262Arg GK:c.851C>T protEffect GK:p.Thr284Met GK:c.857G>C protEffect GK:p.Gly286Ala GK:c.880A>G protEffect GK:p.Asn294Asp GK:c.932C>T protEffect GK:p.Ala311Val GK:c.946A>T protEffect GK:p.Arg316Stop LAMA2:c.1076T>C protEffect LAMA2:p.Val359Ala LAMA2:c.1177T>G protEffect LAMA2:p.Cys393Gly LAMA2:c.1182T>A protEffect LAMA2:p.Thr394Thr LAMA2:c.1303C>T protEffect LAMA2:p.Arg435Stop LAMA2:c.1326T>G protEffect LAMA2:p.Cys442Trp LAMA2:c.1419G>A protEffect LAMA2:p.Gly473Gly LAMA2:c.1491T>C protEffect LAMA2:p.Cys497Cys LAMA2:c.156C>T protEffect LAMA2:p.Ile52Ile LAMA2:c.1580G>A protEffect LAMA2:p.Cys527Tyr LAMA2:c.1634T>A protEffect LAMA2:p.Leu545Gln LAMA2:c.1669C>T protEffect LAMA2:p.Gln557Stop LAMA2:c.1798G>A protEffect LAMA2:p.Gly600Arg LAMA2:c.1856G>A protEffect LAMA2:p.Arg619His LAMA2:c.1884G>A protEffect LAMA2:p.Glu628Glu LAMA2:c.1976C>A protEffect LAMA2:p.Ser659Stop LAMA2:c.2017G>T protEffect LAMA2:p.Glu673Stop LAMA2:c.2054T>C protEffect LAMA2:p.Leu685Pro LAMA2:c.2178C>A protEffect LAMA2:p.Cys726Stop LAMA2:c.2230C>T protEffect LAMA2:p.Arg744Stop LAMA2:c.2235T>A protEffect LAMA2:p.Val745Val LAMA2:c.2295C>A protEffect LAMA2:p.Ser765Ser LAMA2:c.2370T>A protEffect LAMA2:p.Pro790Pro LAMA2:c.2383G>T protEffect LAMA2:p.Glu795Stop LAMA2:c.2461A>C protEffect LAMA2:p.Thr821Pro LAMA2:c.2550C>G protEffect LAMA2:p.Gly850Gly LAMA2:c.2576G>T protEffect LAMA2:p.Gly859Val LAMA2:c.257G>A protEffect LAMA2:p.Cys86Tyr LAMA2:c.2584T>C protEffect LAMA2:p.Cys862Arg LAMA2:c.2631C>G protEffect LAMA2:p.Gly877Gly LAMA2:c.2756G>T protEffect LAMA2:p.Arg919Leu LAMA2:c.2799A>G protEffect LAMA2:p.Gln933Gln LAMA2:c.283C>T protEffect LAMA2:p.Gln95Stop LAMA2:c.2901C>A protEffect LAMA2:p.Cys967Stop LAMA2:c.2907C>A protEffect LAMA2:p.Cys969Stop LAMA2:c.2954G>A protEffect LAMA2:p.Cys985Tyr LAMA2:c.2962C>T protEffect LAMA2:p.Gln988Stop LAMA2:c.2986T>C protEffect LAMA2:p.Cys996Arg LAMA2:c.2T>C protEffect LAMA2:p.Met1Thr LAMA2:c.3039T>G protEffect LAMA2:p.Ala1013Ala LAMA2:c.3085C>T protEffect LAMA2:p.Arg1029Stop LAMA2:c.3099T>A protEffect LAMA2:p.Pro1033Pro LAMA2:c.3135A>G protEffect LAMA2:p.Ala1045Ala LAMA2:c.3154A>G protEffect LAMA2:p.Ser1052Gly LAMA2:c.3412G>A protEffect LAMA2:p.Val1138Met LAMA2:c.3472A>T protEffect LAMA2:p.Lys1158Stop LAMA2:c.35T>G protEffect LAMA2:p.Leu12Arg LAMA2:c.363C>A protEffect LAMA2:p.Tyr121Stop LAMA2:c.3718C>T protEffect LAMA2:p.Gln1240Stop LAMA2:c.3719A>T protEffect LAMA2:p.Gln1240Leu LAMA2:c.381C>A protEffect LAMA2:p.Thr127Thr LAMA2:c.3829C>T protEffect LAMA2:p.Arg1277Stop LAMA2:c.3832G>T protEffect LAMA2:p.Gly1278Cys LAMA2:c.391C>T protEffect LAMA2:p.Gln131Stop LAMA2:c.3930A>G protEffect LAMA2:p.Glu1310Glu LAMA2:c.3976C>T protEffect LAMA2:p.Arg1326Stop LAMA2:c.4002T>G protEffect LAMA2:p.Tyr1334Stop LAMA2:c.4035T>G protEffect LAMA2:p.Tyr1345Stop LAMA2:c.4048C>T protEffect LAMA2:p.Arg1350Stop LAMA2:c.411G>A protEffect LAMA2:p.Ala137Ala LAMA2:c.412T>C protEffect LAMA2:p.Tyr138His LAMA2:c.4198C>T protEffect LAMA2:p.Arg1400Stop LAMA2:c.4309C>T protEffect LAMA2:p.Gln1437Stop LAMA2:c.4318C>T protEffect LAMA2:p.Gln1440Stop LAMA2:c.4348C>T protEffect LAMA2:p.Arg1450Stop LAMA2:c.437C>T protEffect LAMA2:p.Ser146Phe LAMA2:c.4405T>C protEffect LAMA2:p.Cys1469Arg LAMA2:c.4407T>C protEffect LAMA2:p.Cys1469Cys LAMA2:c.4446C>T protEffect LAMA2:p.Pro1482Pro LAMA2:c.4523G>A protEffect LAMA2:p.Arg1508Lys LAMA2:c.454T>G protEffect LAMA2:p.Trp152Gly LAMA2:c.4638C>A protEffect LAMA2:p.Cys1546Stop LAMA2:c.4645C>T protEffect LAMA2:p.Arg1549Stop LAMA2:c.4654G>A protEffect LAMA2:p.Ala1552Thr LAMA2:c.4690C>T protEffect LAMA2:p.His1564Tyr LAMA2:c.470C>T protEffect LAMA2:p.Ser157Phe LAMA2:c.4750G>A protEffect LAMA2:p.Gly1584Ser LAMA2:c.4852G>T protEffect LAMA2:p.Glu1618Stop LAMA2:c.4956C>G protEffect LAMA2:p.Thr1652Thr LAMA2:c.498G>A protEffect LAMA2:p.Trp166Stop LAMA2:c.500A>C protEffect LAMA2:p.Gln167Pro LAMA2:c.5116C>T protEffect LAMA2:p.Arg1706Stop LAMA2:c.5382A>T protEffect LAMA2:p.Thr1794Thr LAMA2:c.5466A>G protEffect LAMA2:p.Glu1822Glu LAMA2:c.5476C>T protEffect LAMA2:p.Arg1826Stop LAMA2:c.5502G>A protEffect LAMA2:p.Glu1834Glu LAMA2:c.5530C>A protEffect LAMA2:p.Arg1844Ser LAMA2:c.5714C>G protEffect LAMA2:p.Ala1905Gly LAMA2:c.5914C>T protEffect LAMA2:p.Gln1972Stop LAMA2:c.6153A>T protEffect LAMA2:p.Val2051Val LAMA2:c.6207C>A protEffect LAMA2:p.Tyr2069Stop LAMA2:c.6237G>A protEffect LAMA2:p.Thr2079Thr LAMA2:c.6279C>T protEffect LAMA2:p.Ala2093Ala LAMA2:c.628G>T protEffect LAMA2:p.Glu210Stop LAMA2:c.6450A>T protEffect LAMA2:p.Ser2150Ser LAMA2:c.6459C>T protEffect LAMA2:p.Asp2153Asp LAMA2:c.6548T>G protEffect LAMA2:p.Leu2183Arg LAMA2:c.6690C>A protEffect LAMA2:p.Tyr2230Stop LAMA2:c.6706A>C protEffect LAMA2:p.Arg2236Arg LAMA2:c.6948G>A protEffect LAMA2:p.Trp2316Stop LAMA2:c.6955C>T protEffect LAMA2:p.Arg2319Stop LAMA2:c.7071G>A protEffect LAMA2:p.Trp2357Stop LAMA2:c.7074C>A protEffect LAMA2:p.Tyr2358Stop LAMA2:c.7147C>T protEffect LAMA2:p.Arg2383Stop LAMA2:c.728T>C protEffect LAMA2:p.Leu243Pro LAMA2:c.7297C>T protEffect LAMA2:p.Gln2433Stop LAMA2:c.7395T>C protEffect LAMA2:p.Asp2465Asp LAMA2:c.7431A>T protEffect LAMA2:p.Arg2477Ser LAMA2:c.745C>T protEffect LAMA2:p.Arg249Cys LAMA2:c.7571A>T protEffect LAMA2:p.Glu2524Val LAMA2:c.7614G>A protEffect LAMA2:p.Glu2538Glu LAMA2:c.7620C>G protEffect LAMA2:p.Ser2540Ser LAMA2:c.7661T>C protEffect LAMA2:p.Phe2554Ser LAMA2:c.7681G>A protEffect LAMA2:p.Gly2561Ser LAMA2:c.7691T>C protEffect LAMA2:p.Leu2564Pro LAMA2:c.7732C>T protEffect LAMA2:p.Arg2578Stop LAMA2:c.7756T>C protEffect LAMA2:p.Tyr2586His LAMA2:c.7810C>T protEffect LAMA2:p.Arg2604Stop LAMA2:c.7830G>C protEffect LAMA2:p.Val2610Val LAMA2:c.7840G>A protEffect LAMA2:p.Glu2614Lys LAMA2:c.7845G>A protEffect LAMA2:p.Pro2615Pro LAMA2:c.7881T>G protEffect LAMA2:p.His2627Gln LAMA2:c.7906A>G protEffect LAMA2:p.Thr2636Ala LAMA2:c.7929A>G protEffect LAMA2:p.Arg2643Arg LAMA2:c.8124T>A protEffect LAMA2:p.Gly2708Gly LAMA2:c.817A>T protEffect LAMA2:p.Arg273Stop LAMA2:c.818G>A protEffect LAMA2:p.Arg273Lys LAMA2:c.82C>T protEffect LAMA2:p.Gln28Stop LAMA2:c.846A>T protEffect LAMA2:p.Ser282Ser LAMA2:c.850G>A protEffect LAMA2:p.Gly284Arg LAMA2:c.855G>T protEffect LAMA2:p.Gly285Gly LAMA2:c.8586T>C protEffect LAMA2:p.Tyr2862Tyr LAMA2:c.8665G>A protEffect LAMA2:p.Gly2889Arg LAMA2:c.8691A>G protEffect LAMA2:p.Arg2897Arg LAMA2:c.8925A>T protEffect LAMA2:p.Gly2975Gly LAMA2:c.9253C>T protEffect LAMA2:p.Arg3085Stop LAMA2:c.94C>T protEffect LAMA2:p.Gln32Stop LAMA2:c.981G>A protEffect LAMA2:p.Gln327Gln LAMA2:c.991A>T protEffect LAMA2:p.Arg331Stop LARGE:c.1092C>T protEffect LARGE:p.Thr364Thr LARGE:c.1431C>T protEffect LARGE:p.Val477Val LARGE:c.1483T>C protEffect LARGE:p.Trp495Arg LARGE:c.1525G>A protEffect LARGE:p.Glu509Lys LARGE:c.1548C>G protEffect LARGE:p.Tyr516Stop LARGE:c.1640G>A protEffect LARGE:p.Arg547His LARGE:c.16A>C protEffect LARGE:p.Arg6Arg LARGE:c.1827A>T protEffect LARGE:p.Ser609Ser LARGE:c.1994G>A protEffect LARGE:p.Arg665His LARGE:c.2100C>T protEffect LARGE:p.Asn700Asn LARGE:c.211G>A protEffect LARGE:p.Glu71Lys LARGE:c.309C>A protEffect LARGE:p.Ser103Ser LARGE:c.435C>T protEffect LARGE:p.Ala145Ala LARGE:c.552G>A protEffect LARGE:p.Thr184Thr LARGE:c.862T>C protEffect LARGE:p.Trp288Arg LARGE:c.992C>T protEffect LARGE:p.Ser331Phe LMNA:c.1003C>T protEffect LMNA:p.Arg335Trp LMNA:c.1007G>A protEffect LMNA:p.Arg336Gln LMNA:c.1022A>C protEffect LMNA:p.Lys341Thr LMNA:c.1027C>T protEffect LMNA:p.Arg343Trp LMNA:c.1028G>A protEffect LMNA:p.Arg343Gln LMNA:c.1039G>A protEffect LMNA:p.Glu347Lys LMNA:c.103C>G protEffect LMNA:p.Leu35Val LMNA:c.1048G>C protEffect LMNA:p.Ala350Pro LMNA:c.1063C>T protEffect LMNA:p.Gln355Stop LMNA:c.1067T>G protEffect LMNA:p.Leu356Arg LMNA:c.1072G>A protEffect LMNA:p.Glu358Lys LMNA:c.1098G>A protEffect LMNA:p.Lys366Lys LMNA:c.1112T>A protEffect LMNA:p.Met371Lys LMNA:c.1129C>T protEffect LMNA:p.Arg377Cys LMNA:c.1130G>A protEffect LMNA:p.Arg377His LMNA:c.1130G>T protEffect LMNA:p.Arg377Leu LMNA:c.1144G>C protEffect LMNA:p.Gly382Arg LMNA:c.1146C>T protEffect LMNA:p.Gly382Gly LMNA:c.1157G>A protEffect LMNA:p.Arg386Lys LMNA:c.1163G>A protEffect LMNA:p.Arg388His LMNA:c.1163G>C protEffect LMNA:p.Arg388Pro LMNA:c.1195C>T protEffect LMNA:p.Arg399Cys LMNA:c.1201C>T protEffect LMNA:p.Arg401Cys LMNA:c.127G>A protEffect LMNA:p.Ala43Thr LMNA:c.1294C>T protEffect LMNA:p.Gln432Stop LMNA:c.1299C>T protEffect LMNA:p.His433His LMNA:c.1303C>T protEffect LMNA:p.Arg435Cys LMNA:c.130G>T protEffect LMNA:p.Val44Phe LMNA:c.1318G>A protEffect LMNA:p.Val440Met LMNA:c.1337A>T protEffect LMNA:p.Asp446Val LMNA:c.1338T>C protEffect LMNA:p.Asp446Asp LMNA:c.134A>G protEffect LMNA:p.Tyr45Cys LMNA:c.1357C>T protEffect LMNA:p.Arg453Trp LMNA:c.1368C>A protEffect LMNA:p.Asn456Lys LMNA:c.1375A>T protEffect LMNA:p.Asn459Tyr LMNA:c.1394G>A protEffect LMNA:p.Gly465Asp LMNA:c.1396A>G protEffect LMNA:p.Asn466Asp LMNA:c.139G>C protEffect LMNA:p.Asp47His LMNA:c.1406T>C protEffect LMNA:p.Ile469Thr LMNA:c.1411C>G protEffect LMNA:p.Arg471Gly LMNA:c.1411C>T protEffect LMNA:p.Arg471Cys LMNA:c.1412G>A protEffect LMNA:p.Arg471His LMNA:c.1441T>C protEffect LMNA:p.Tyr481His LMNA:c.1444C>T protEffect LMNA:p.Arg482Trp LMNA:c.1445G>A protEffect LMNA:p.Arg482Gln LMNA:c.1445G>T protEffect LMNA:p.Arg482Leu LMNA:c.1458G>C protEffect LMNA:p.Lys486Asn LMNA:c.1458G>T protEffect LMNA:p.Lys486Asn LMNA:c.1486A>C protEffect LMNA:p.Thr496Pro LMNA:c.148C>A protEffect LMNA:p.Arg50Ser LMNA:c.1494G>C protEffect LMNA:p.Trp498Cys LMNA:c.1494G>T protEffect LMNA:p.Trp498Cys LMNA:c.149G>C protEffect LMNA:p.Arg50Pro LMNA:c.1535T>C protEffect LMNA:p.Leu512Pro LMNA:c.1551G>A protEffect LMNA:p.Gln517Gln LMNA:c.1559G>C protEffect LMNA:p.Trp520Ser LMNA:c.155T>C protEffect LMNA:p.Leu52Pro LMNA:c.1579C>T protEffect LMNA:p.Arg527Cys LMNA:c.1580G>A protEffect LMNA:p.Arg527His LMNA:c.1580G>C protEffect LMNA:p.Arg527Pro LMNA:c.1583C>A protEffect LMNA:p.Thr528Lys LMNA:c.1583C>G protEffect LMNA:p.Thr528Arg LMNA:c.1583C>T protEffect LMNA:p.Thr528Met LMNA:c.1586C>T protEffect LMNA:p.Ala529Val LMNA:c.1589T>C protEffect LMNA:p.Leu530Pro LMNA:c.158A>T protEffect LMNA:p.Glu53Val LMNA:c.1619T>C protEffect LMNA:p.Met540Thr LMNA:c.1621C>T protEffect LMNA:p.Arg541Cys LMNA:c.1622G>A protEffect LMNA:p.Arg541His LMNA:c.1626G>C protEffect LMNA:p.Lys542Asn LMNA:c.1683G>C protEffect LMNA:p.Leu561Leu LMNA:c.1698C>T protEffect LMNA:p.His566His LMNA:c.169G>C protEffect LMNA:p.Ala57Pro LMNA:c.16C>T protEffect LMNA:p.Gln6Stop LMNA:c.1718C>T protEffect LMNA:p.Ser573Leu LMNA:c.1731T>C protEffect LMNA:p.Ala577Ala LMNA:c.1733A>T protEffect LMNA:p.Glu578Val LMNA:c.1745G>A protEffect LMNA:p.Arg582His LMNA:c.1748C>T protEffect LMNA:p.Ser583Leu LMNA:c.1751G>A protEffect LMNA:p.Arg584His LMNA:c.1761G>A protEffect LMNA:p.Leu587Leu LMNA:c.176T>G protEffect LMNA:p.Leu59Arg LMNA:c.1772G>T protEffect LMNA:p.Cys591Phe LMNA:c.1786G>A protEffect LMNA:p.Asp596Asn LMNA:c.178C>G protEffect LMNA:p.Arg60Gly LMNA:c.1821G>A protEffect LMNA:p.Val607Val LMNA:c.1822G>A protEffect LMNA:p.Gly608Ser LMNA:c.1824C>T protEffect LMNA:p.Gly608Gly LMNA:c.184C>G protEffect LMNA:p.Arg62Gly LMNA:c.1851C>T protEffect LMNA:p.Ala617Ala LMNA:c.1868C>G protEffect LMNA:p.Thr623Ser LMNA:c.1871G>A protEffect LMNA:p.Arg624His LMNA:c.1871G>T protEffect LMNA:p.Arg624Leu LMNA:c.188T>A protEffect LMNA:p.Ile63Asn LMNA:c.188T>G protEffect LMNA:p.Ile63Ser LMNA:c.1904G>A protEffect LMNA:p.Gly635Asp LMNA:c.1930C>T protEffect LMNA:p.Arg644Cys LMNA:c.1931G>A protEffect LMNA:p.Arg644His LMNA:c.194A>G protEffect LMNA:p.Glu65Gly LMNA:c.1960C>T protEffect LMNA:p.Arg654Stop LMNA:c.244G>A protEffect LMNA:p.Glu82Lys LMNA:c.254T>G protEffect LMNA:p.Leu85Arg LMNA:c.266G>T protEffect LMNA:p.Arg89Leu LMNA:c.273C>A protEffect LMNA:p.Thr91Thr LMNA:c.289A>G protEffect LMNA:p.Lys97Glu LMNA:c.29C>T protEffect LMNA:p.Thr10Ile LMNA:c.302G>C protEffect LMNA:p.Arg101Pro LMNA:c.331G>T protEffect LMNA:p.Glu111Stop LMNA:c.357C>T protEffect LMNA:p.Arg119Arg LMNA:c.398G>C protEffect LMNA:p.Arg133Pro LMNA:c.398G>T protEffect LMNA:p.Arg133Leu LMNA:c.3G>T protEffect LMNA:p.Met1Ile LMNA:c.407A>G protEffect LMNA:p.Asp136Gly LMNA:c.412G>A protEffect LMNA:p.Glu138Lys LMNA:c.419T>C protEffect LMNA:p.Leu140Pro LMNA:c.419T>G protEffect LMNA:p.Leu140Arg LMNA:c.428C>T protEffect LMNA:p.Ser143Phe LMNA:c.433G>A protEffect LMNA:p.Glu145Lys LMNA:c.448A>C protEffect LMNA:p.Thr150Pro LMNA:c.471G>A protEffect LMNA:p.Thr157Thr LMNA:c.481G>A protEffect LMNA:p.Glu161Lys LMNA:c.497G>C protEffect LMNA:p.Arg166Pro LMNA:c.513G>A protEffect LMNA:p.Lys171Lys LMNA:c.51C>T protEffect LMNA:p.Ser17Ser LMNA:c.556G>A protEffect LMNA:p.Glu186Lys LMNA:c.568C>T protEffect LMNA:p.Arg190Trp LMNA:c.569G>A protEffect LMNA:p.Arg190Gln LMNA:c.583A>G protEffect LMNA:p.Asn195Asp LMNA:c.585C>G protEffect LMNA:p.Asn195Lys LMNA:c.5A>G protEffect LMNA:p.Glu2Gly LMNA:c.607G>A protEffect LMNA:p.Glu203Lys LMNA:c.608A>G protEffect LMNA:p.Glu203Gly LMNA:c.612G>A protEffect LMNA:p.Leu204Leu LMNA:c.629T>G protEffect LMNA:p.Ile210Ser LMNA:c.644T>C protEffect LMNA:p.Leu215Pro LMNA:c.65C>T protEffect LMNA:p.Ser22Leu LMNA:c.664C>T protEffect LMNA:p.His222Tyr LMNA:c.665A>C protEffect LMNA:p.His222Pro LMNA:c.673C>T protEffect LMNA:p.Arg225Stop LMNA:c.688G>A protEffect LMNA:p.Asp230Asn LMNA:c.691A>C protEffect LMNA:p.Asn231His LMNA:c.694G>A protEffect LMNA:p.Gly232Arg LMNA:c.695G>A protEffect LMNA:p.Gly232Glu LMNA:c.700C>T protEffect LMNA:p.Gln234Stop LMNA:c.73C>G protEffect LMNA:p.Arg25Gly LMNA:c.743T>C protEffect LMNA:p.Leu248Pro LMNA:c.745C>T protEffect LMNA:p.Arg249Trp LMNA:c.746G>A protEffect LMNA:p.Arg249Gln LMNA:c.74G>C protEffect LMNA:p.Arg25Pro LMNA:c.775T>G protEffect LMNA:p.Tyr259Asp LMNA:c.777T>A protEffect LMNA:p.Tyr259Stop LMNA:c.77T>G protEffect LMNA:p.Ile26Ser LMNA:c.780G>C protEffect LMNA:p.Lys260Asn LMNA:c.784G>A protEffect LMNA:p.Glu262Lys LMNA:c.788T>C protEffect LMNA:p.Leu263Pro LMNA:c.799T>C protEffect LMNA:p.Tyr267His LMNA:c.800A>G protEffect LMNA:p.Tyr267Cys LMNA:c.80C>T protEffect LMNA:p.Thr27Ile LMNA:c.812T>C protEffect LMNA:p.Leu271Pro LMNA:c.82C>T protEffect LMNA:p.Arg28Trp LMNA:c.832G>A protEffect LMNA:p.Ala278Thr LMNA:c.832G>C protEffect LMNA:p.Ala278Pro LMNA:c.83G>A protEffect LMNA:p.Arg28Gln LMNA:c.861T>C protEffect LMNA:p.Ala287Ala LMNA:c.881A>C protEffect LMNA:p.Gln294Pro LMNA:c.883T>C protEffect LMNA:p.Ser295Pro LMNA:c.892C>T protEffect LMNA:p.Arg298Cys LMNA:c.895A>G protEffect LMNA:p.Ile299Val LMNA:c.899A>G protEffect LMNA:p.Asp300Gly LMNA:c.936G>C protEffect LMNA:p.Gln312His LMNA:c.949G>A protEffect LMNA:p.Glu317Lys LMNA:c.952G>A protEffect LMNA:p.Ala318Thr LMNA:c.961C>T protEffect LMNA:p.Arg321Stop LMNA:c.976T>A protEffect LMNA:p.Ser326Thr LMNA:c.98A>G protEffect LMNA:p.Glu33Gly LMNA:c.992G>A protEffect LMNA:p.Arg331Gln LMNA:c.99G>T protEffect LMNA:p.Glu33Asp MSTN:c.163G>A protEffect MSTN:p.Ala55Thr MSTN:c.180C>T protEffect MSTN:p.Ile60Ile MSTN:c.194G>A protEffect MSTN:p.Arg65His MSTN:c.283G>C protEffect MSTN:p.Asp95His MSTN:c.306C>T protEffect MSTN:p.Ser102Ser MSTN:c.307G>A protEffect MSTN:p.Asp103Asn MSTN:c.386T>G protEffect MSTN:p.Met129Arg MSTN:c.458A>G protEffect MSTN:p.Lys153Arg MSTN:c.466C>A protEffect MSTN:p.Leu156Ile MSTN:c.490G>A protEffect MSTN:p.Glu164Lys MSTN:c.554G>C protEffect MSTN:p.Arg185Thr MSTN:c.592C>G protEffect MSTN:p.Pro198Ala MSTN:c.674T>C protEffect MSTN:p.Ile225Thr MTM1:c.1037G>C protEffect MTM1:p.Trp346Ser MTM1:c.1038G>T protEffect MTM1:p.Trp346Cys MTM1:c.1067G>A protEffect MTM1:p.Gly356Glu MTM1:c.1091T>G protEffect MTM1:p.Val364Gly MTM1:c.1097C>G protEffect MTM1:p.Ser366Stop MTM1:c.109C>T protEffect MTM1:p.Arg37Stop MTM1:c.1120C>G protEffect MTM1:p.His374Asp MTM1:c.1127G>A protEffect MTM1:p.Ser376Asn MTM1:c.1132G>A protEffect MTM1:p.Gly378Arg MTM1:c.1133G>A protEffect MTM1:p.Gly378Glu MTM1:c.1137G>A protEffect MTM1:p.Trp379Stop MTM1:c.1160C>A protEffect MTM1:p.Ser387Tyr MTM1:c.1160C>T protEffect MTM1:p.Ser387Phe MTM1:c.1166C>A protEffect MTM1:p.Ala389Asp MTM1:c.1172T>C protEffect MTM1:p.Leu391Pro MTM1:c.1190A>G protEffect MTM1:p.Tyr397Cys MTM1:c.1204G>A protEffect MTM1:p.Gly402Arg MTM1:c.1205G>C protEffect MTM1:p.Gly402Ala MTM1:c.1205G>T protEffect MTM1:p.Gly402Val MTM1:c.1210G>A protEffect MTM1:p.Glu404Lys MTM1:c.1217T>C protEffect MTM1:p.Leu406Pro MTM1:c.1223A>C protEffect MTM1:p.Gln408Pro MTM1:c.1228G>A protEffect MTM1:p.Glu410Lys MTM1:c.1233G>C protEffect MTM1:p.Trp411Cys MTM1:c.1234A>G protEffect MTM1:p.Ile412Val MTM1:c.1241T>C protEffect MTM1:p.Phe414Ser MTM1:c.1244G>T protEffect MTM1:p.Gly415Val MTM1:c.1247A>G protEffect MTM1:p.His416Arg MTM1:c.1254T>C protEffect MTM1:p.Phe418Phe MTM1:c.1261C>T protEffect MTM1:p.Arg421Stop MTM1:c.1262G>A protEffect MTM1:p.Arg421Gln MTM1:c.1291G>A protEffect MTM1:p.Asp431Asn MTM1:c.1297G>A protEffect MTM1:p.Asp433Asn MTM1:c.1331G>A protEffect MTM1:p.Cys444Tyr MTM1:c.1338G>A protEffect MTM1:p.Trp446Stop MTM1:c.1346C>G protEffect MTM1:p.Ser449Stop MTM1:c.1353G>A protEffect MTM1:p.Gln451Gln MTM1:c.1406A>C protEffect MTM1:p.His469Pro MTM1:c.1409T>C protEffect MTM1:p.Leu470Pro MTM1:c.1420C>T protEffect MTM1:p.Arg474Stop MTM1:c.142G>T protEffect MTM1:p.Glu48Stop MTM1:c.1441A>T protEffect MTM1:p.Asn481Tyr MTM1:c.1456C>T protEffect MTM1:p.Arg486Stop MTM1:c.145G>T protEffect MTM1:p.Val49Phe MTM1:c.1492T>C protEffect MTM1:p.Leu498Leu MTM1:c.1493T>A protEffect MTM1:p.Leu498Stop MTM1:c.1495T>C protEffect MTM1:p.Trp499Arg MTM1:c.1549G>T protEffect MTM1:p.Glu517Stop MTM1:c.1558C>T protEffect MTM1:p.Arg520Stop MTM1:c.1569T>A protEffect MTM1:p.Tyr523Stop MTM1:c.1611C>G protEffect MTM1:p.Tyr537Stop MTM1:c.1701C>T protEffect MTM1:p.Tyr567Tyr MTM1:c.1702A>G protEffect MTM1:p.Ile568Val MTM1:c.181G>T protEffect MTM1:p.Gly61Stop MTM1:c.184A>T protEffect MTM1:p.Arg62Stop MTM1:c.1A>G protEffect MTM1:p.Met1Val MTM1:c.202T>G protEffect MTM1:p.Tyr68Asp MTM1:c.205C>A protEffect MTM1:p.Arg69Ser MTM1:c.205C>T protEffect MTM1:p.Arg69Cys MTM1:c.206G>C protEffect MTM1:p.Arg69Pro MTM1:c.208C>T protEffect MTM1:p.Leu70Phe MTM1:c.232G>T protEffect MTM1:p.Asp78Tyr MTM1:c.260T>C protEffect MTM1:p.Leu87Pro MTM1:c.27T>A protEffect MTM1:p.Tyr9Stop MTM1:c.2T>G protEffect MTM1:p.Met1Arg MTM1:c.321T>A protEffect MTM1:p.Tyr107Stop MTM1:c.32C>G protEffect MTM1:p.Ser11Stop MTM1:c.417A>G protEffect MTM1:p.Arg139Arg MTM1:c.444G>C protEffect MTM1:p.Leu148Leu MTM1:c.469G>A protEffect MTM1:p.Glu157Lys MTM1:c.49G>T protEffect MTM1:p.Glu17Stop MTM1:c.526C>T protEffect MTM1:p.Gln176Stop MTM1:c.535C>T protEffect MTM1:p.Pro179Ser MTM1:c.540T>G protEffect MTM1:p.Asn180Lys MTM1:c.550A>G protEffect MTM1:p.Arg184Gly MTM1:c.551G>T protEffect MTM1:p.Arg184Ile MTM1:c.557C>T protEffect MTM1:p.Thr186Ile MTM1:c.561T>C protEffect MTM1:p.Phe187Phe MTM1:c.566A>G protEffect MTM1:p.Asn189Ser MTM1:c.575A>G protEffect MTM1:p.Tyr192Cys MTM1:c.590C>T protEffect MTM1:p.Thr197Ile MTM1:c.592T>A protEffect MTM1:p.Tyr198Asn MTM1:c.594C>A protEffect MTM1:p.Tyr198Stop MTM1:c.595C>A protEffect MTM1:p.Pro199Thr MTM1:c.595C>T protEffect MTM1:p.Pro199Ser MTM1:c.596C>T protEffect MTM1:p.Pro199Leu MTM1:c.605T>C protEffect MTM1:p.Leu202Ser MTM1:c.614C>T protEffect MTM1:p.Pro205Leu MTM1:c.664C>T protEffect MTM1:p.Arg222Stop MTM1:c.670C>T protEffect MTM1:p.Arg224Stop MTM1:c.674T>C protEffect MTM1:p.Ile225Thr MTM1:c.676C>A protEffect MTM1:p.Pro226Thr MTM1:c.679G>A protEffect MTM1:p.Val227Met MTM1:c.683T>C protEffect MTM1:p.Leu228Pro MTM1:c.684G>C protEffect MTM1:p.Leu228Leu MTM1:c.685T>C protEffect MTM1:p.Ser229Pro MTM1:c.688T>A protEffect MTM1:p.Trp230Arg MTM1:c.689G>A protEffect MTM1:p.Trp230Stop MTM1:c.690G>T protEffect MTM1:p.Trp230Cys MTM1:c.695A>G protEffect MTM1:p.His232Arg MTM1:c.70C>T protEffect MTM1:p.Arg24Stop MTM1:c.721C>T protEffect MTM1:p.Arg241Cys MTM1:c.722G>T protEffect MTM1:p.Arg241Leu MTM1:c.757C>T protEffect MTM1:p.Arg253Stop MTM1:c.779A>C protEffect MTM1:p.Tyr260Ser MTM1:c.791T>G protEffect MTM1:p.Ile264Ser MTM1:c.796G>T protEffect MTM1:p.Glu266Stop MTM1:c.836C>G protEffect MTM1:p.Ala279Gly MTM1:c.85C>T protEffect MTM1:p.Arg29Stop MTM1:c.899C>T protEffect MTM1:p.Ala300Val MTM1:c.950T>G protEffect MTM1:p.Met317Arg MYL2:c.141C>A protEffect MYL2:p.Asn47Lys MYL2:c.173G>A protEffect MYL2:p.Arg58Gln MYL2:c.184A>G protEffect MYL2:p.Lys62Glu MYL2:c.283C>G protEffect MYL2:p.Pro95Ala MYL2:c.37G>A protEffect MYL2:p.Ala13Thr MYL2:c.497A>T protEffect MYL2:p.Asp166Val MYL2:c.52T>C protEffect MYL2:p.Phe18Leu MYL2:c.64G>A protEffect MYL2:p.Glu22Lys NEB:c.10201T>A protEffect NEB:p.Ser3401Thr NEB:c.10809G>C protEffect NEB:p.Trp3603Cys NEB:c.11083T>C protEffect NEB:p.Tyr3695His NEB:c.12905A>T protEffect NEB:p.Asn4302Ile NEB:c.18676C>T protEffect NEB:p.Gln6226Stop NEB:c.19097G>T protEffect NEB:p.Ser6366Ile NEB:c.19913G>C protEffect NEB:p.Arg6638Pro NEB:c.21790G>C protEffect NEB:p.Asp7264His NEB:c.22275C>G protEffect NEB:p.Val7425Val NEB:c.2319C>G protEffect NEB:p.Tyr773Stop NEB:c.23521C>T protEffect NEB:p.Leu7841Leu NEB:c.3191A>G protEffect NEB:p.Tyr1064Cys NEB:c.3390T>G protEffect NEB:p.Tyr1130Stop NEB:c.410A>G protEffect NEB:p.Tyr137Cys NEB:c.4834C>A protEffect NEB:p.Arg1612Ser NEB:c.549C>A protEffect NEB:p.Tyr183Stop NEB:c.5555T>G protEffect NEB:p.Met1852Arg NEB:c.5567G>A protEffect NEB:p.Arg1856Gln NEB:c.5971C>T protEffect NEB:p.His1991Tyr NEB:c.6069G>A protEffect NEB:p.Met2023Ile NEB:c.7291G>A protEffect NEB:p.Glu2431Lys PABPN1:c.35G>C protEffect PABPN1:p.Gly12Ala POMT2:c.1057G>A protEffect POMT2:p.Gly353Ser POMT2:c.1064T>C protEffect POMT2:p.Leu355Pro POMT2:c.1117G>T protEffect POMT2:p.Val373Phe POMT2:c.1139A>T protEffect POMT2:p.Asp380Val POMT2:c.1238G>C protEffect POMT2:p.Arg413Pro POMT2:c.1414A>C protEffect POMT2:p.Ser472Arg POMT2:c.1445G>T protEffect POMT2:p.Gly482Val POMT2:c.1484G>C protEffect POMT2:p.Trp495Ser POMT2:c.161C>A protEffect POMT2:p.Ala54Glu POMT2:c.162G>T protEffect POMT2:p.Ala54Ala POMT2:c.1769A>G protEffect POMT2:p.Tyr590Cys POMT2:c.1881G>A protEffect POMT2:p.Ala627Ala POMT2:c.1890A>G protEffect POMT2:p.Ala630Ala POMT2:c.1903G>A protEffect POMT2:p.Val635Ile POMT2:c.1912C>A protEffect POMT2:p.Arg638Arg POMT2:c.1912C>T protEffect POMT2:p.Arg638Stop POMT2:c.1975C>T protEffect POMT2:p.Arg659Trp POMT2:c.1997A>G protEffect POMT2:p.Tyr666Cys POMT2:c.2047A>C protEffect POMT2:p.Thr683Pro POMT2:c.2150T>C protEffect POMT2:p.Phe717Ser POMT2:c.2176G>A protEffect POMT2:p.Gly726Arg POMT2:c.2177G>A protEffect POMT2:p.Gly726Glu POMT2:c.2242T>C protEffect POMT2:p.Trp748Arg POMT2:c.2243G>C protEffect POMT2:p.Trp748Ser POMT2:c.287A>G protEffect POMT2:p.Tyr96Cys POMT2:c.512C>T protEffect POMT2:p.Ser171Leu POMT2:c.527C>T protEffect POMT2:p.Thr176Ile POMT2:c.551C>T protEffect POMT2:p.Thr184Met POMT2:c.586G>T protEffect POMT2:p.Asp196Tyr POMT2:c.593T>A protEffect POMT2:p.Ile198Asn POMT2:c.604T>G protEffect POMT2:p.Phe202Val POMT2:c.796G>A protEffect POMT2:p.Gly266Arg POMT2:c.807T>G protEffect POMT2:p.Ser269Arg RYR1:c.10043G>A protEffect RYR1:p.Arg3348His RYR1:c.10086C>T protEffect RYR1:p.Ile3362Ile RYR1:c.10097G>A protEffect RYR1:p.Arg3366His RYR1:c.10100A>G protEffect RYR1:p.Lys3367Arg RYR1:c.1014C>A protEffect RYR1:p.Ile338Ile RYR1:c.10188C>T protEffect RYR1:p.Asp3396Asp RYR1:c.10218C>T protEffect RYR1:p.Tyr3406Tyr RYR1:c.1021G>A protEffect RYR1:p.Gly341Arg RYR1:c.1021G>C protEffect RYR1:p.Gly341Arg RYR1:c.10262C>T protEffect RYR1:p.Ala3421Val RYR1:c.10343C>T protEffect RYR1:p.Ser3448Phe RYR1:c.103T>C protEffect RYR1:p.Cys35Arg RYR1:c.10579C>T protEffect RYR1:p.Pro3527Ser RYR1:c.10616G>A protEffect RYR1:p.Arg3539His RYR1:c.10747G>C protEffect RYR1:p.Glu3583Gln RYR1:c.1077T>C protEffect RYR1:p.Ala359Ala RYR1:c.10817T>C protEffect RYR1:p.Leu3606Pro RYR1:c.1100G>A protEffect RYR1:p.Arg367Gln RYR1:c.1100G>T protEffect RYR1:p.Arg367Leu RYR1:c.11120G>T protEffect RYR1:p.Arg3707Leu RYR1:c.1116G>A protEffect RYR1:p.Lys372Lys RYR1:c.11266C>G protEffect RYR1:p.Gln3756Glu RYR1:c.11315G>A protEffect RYR1:p.Arg3772Gln RYR1:c.11518G>A protEffect RYR1:p.Val3840Ile RYR1:c.11547G>A protEffect RYR1:p.Gln3849Gln RYR1:c.11708G>A protEffect RYR1:p.Arg3903Gln RYR1:c.11748T>G protEffect RYR1:p.Ile3916Met RYR1:c.11754T>A protEffect RYR1:p.Thr3918Thr RYR1:c.11778G>A protEffect RYR1:p.Gln3926Gln RYR1:c.11798A>G protEffect RYR1:p.Tyr3933Cys RYR1:c.11953T>C protEffect RYR1:p.Trp3985Arg RYR1:c.11958C>G protEffect RYR1:p.Asp3986Glu RYR1:c.11969G>T protEffect RYR1:p.Gly3990Val RYR1:c.1201C>G protEffect RYR1:p.Arg401Gly RYR1:c.1201C>T protEffect RYR1:p.Arg401Cys RYR1:c.1202G>A protEffect RYR1:p.Arg401His RYR1:c.1205T>C protEffect RYR1:p.Met402Thr RYR1:c.1209C>G protEffect RYR1:p.Ile403Met RYR1:c.12121C>T protEffect RYR1:p.Arg4041Trp RYR1:c.12149C>A protEffect RYR1:p.Ser4050Tyr RYR1:c.1218C>T protEffect RYR1:p.Thr406Thr RYR1:c.12241A>T protEffect RYR1:p.Thr4081Ser RYR1:c.12335C>T protEffect RYR1:p.Ser4112Leu RYR1:c.12355A>T protEffect RYR1:p.Asn4119Tyr RYR1:c.12406C>A protEffect RYR1:p.Arg4136Ser RYR1:c.12413T>C protEffect RYR1:p.Ile4138Thr RYR1:c.12700G>C protEffect RYR1:p.Val4234Leu RYR1:c.1280C>T protEffect RYR1:p.Ser427Leu RYR1:c.12848A>T protEffect RYR1:p.Glu4283Val RYR1:c.12879G>C protEffect RYR1:p.Ala4293Ala RYR1:c.12884C>T protEffect RYR1:p.Ala4295Val RYR1:c.12986C>A protEffect RYR1:p.Ala4329Asp RYR1:c.130C>T protEffect RYR1:p.Arg44Cys RYR1:c.131G>A protEffect RYR1:p.Arg44His RYR1:c.13254C>A protEffect RYR1:p.Gly4418Gly RYR1:c.13317C>T protEffect RYR1:p.Ala4439Ala RYR1:c.13470G>A protEffect RYR1:p.Glu4490Glu RYR1:c.13503G>A protEffect RYR1:p.Pro4501Pro RYR1:c.13509A>G protEffect RYR1:p.Lys4503Lys RYR1:c.13617C>T protEffect RYR1:p.Gly4539Gly RYR1:c.13671C>G protEffect RYR1:p.Ser4557Ser RYR1:c.13673G>A protEffect RYR1:p.Arg4558Gln RYR1:c.13703T>C protEffect RYR1:p.Leu4568Pro RYR1:c.13891T>A protEffect RYR1:p.Tyr4631Asn RYR1:c.13900G>A protEffect RYR1:p.Glu4634Lys RYR1:c.13909A>G protEffect RYR1:p.Thr4637Ala RYR1:c.13910C>T protEffect RYR1:p.Thr4637Ile RYR1:c.13912G>A protEffect RYR1:p.Gly4638Ser RYR1:c.13913G>A protEffect RYR1:p.Gly4638Asp RYR1:c.13919T>G protEffect RYR1:p.Met4640Arg RYR1:c.13934G>A protEffect RYR1:p.Arg4645Gln RYR1:c.13940T>C protEffect RYR1:p.Leu4647Pro RYR1:c.13949T>C protEffect RYR1:p.Leu4650Pro RYR1:c.13952A>C protEffect RYR1:p.His4651Pro RYR1:c.14002C>T protEffect RYR1:p.Pro4668Ser RYR1:c.14051T>C protEffect RYR1:p.Phe4684Ser RYR1:c.14126C>T protEffect RYR1:p.Thr4709Met RYR1:c.14170A>C protEffect RYR1:p.Lys4724Gln RYR1:c.14197T>G protEffect RYR1:p.Tyr4733Asp RYR1:c.14201G>A protEffect RYR1:p.Gly4734Glu RYR1:c.14209C>T protEffect RYR1:p.Arg4737Trp RYR1:c.14210G>A protEffect RYR1:p.Arg4737Gln RYR1:c.14228G>A protEffect RYR1:p.Gly4743Asp RYR1:c.1422G>T protEffect RYR1:p.Gln474His RYR1:c.14256A>C protEffect RYR1:p.Thr4752Thr RYR1:c.14378T>C protEffect RYR1:p.Leu4793Pro RYR1:c.14387A>G protEffect RYR1:p.Tyr4796Cys RYR1:c.14422T>A protEffect RYR1:p.Phe4808Ile RYR1:c.14424C>A protEffect RYR1:p.Phe4808Leu RYR1:c.14440C>T protEffect RYR1:p.Leu4814Phe RYR1:c.14449A>T protEffect RYR1:p.Ile4817Phe RYR1:c.14458G>T protEffect RYR1:p.Gly4820Trp RYR1:c.14471T>C protEffect RYR1:p.Leu4824Pro RYR1:c.14473C>T protEffect RYR1:p.Arg4825Cys RYR1:c.14474G>C protEffect RYR1:p.Arg4825Pro RYR1:c.14477C>T protEffect RYR1:p.Thr4826Ile RYR1:c.14497C>T protEffect RYR1:p.His4833Tyr RYR1:c.14512C>G protEffect RYR1:p.Leu4838Val RYR1:c.14524G>A protEffect RYR1:p.Val4842Met RYR1:c.14537C>T protEffect RYR1:p.Ala4846Val RYR1:c.1453A>G protEffect RYR1:p.Met485Val RYR1:c.14545G>A protEffect RYR1:p.Val4849Ile RYR1:c.14567C>G protEffect RYR1:p.Ala4856Gly RYR1:c.14572A>G protEffect RYR1:p.Asn4858Asp RYR1:c.14578T>G protEffect RYR1:p.Phe4860Val RYR1:c.14581C>T protEffect RYR1:p.Arg4861Cys RYR1:c.14582G>A protEffect RYR1:p.Arg4861His RYR1:c.14591A>G protEffect RYR1:p.Tyr4864Cys RYR1:c.14627A>G protEffect RYR1:p.Lys4876Arg RYR1:c.14639T>C protEffect RYR1:p.Met4880Thr RYR1:c.14645C>T protEffect RYR1:p.Thr4882Met RYR1:c.14667C>G protEffect RYR1:p.Tyr4889Stop RYR1:c.14671G>C protEffect RYR1:p.Gly4891Arg RYR1:c.14677C>T protEffect RYR1:p.Arg4893Trp RYR1:c.14678G>A protEffect RYR1:p.Arg4893Gln RYR1:c.14678G>C protEffect RYR1:p.Arg4893Pro RYR1:c.14680G>A protEffect RYR1:p.Ala4894Thr RYR1:c.14680G>C protEffect RYR1:p.Ala4894Pro RYR1:c.14681C>T protEffect RYR1:p.Ala4894Val RYR1:c.14693T>C protEffect RYR1:p.Ile4898Thr RYR1:c.14695G>A protEffect RYR1:p.Gly4899Arg RYR1:c.14696G>A protEffect RYR1:p.Gly4899Glu RYR1:c.14717C>T protEffect RYR1:p.Ala4906Val RYR1:c.14740A>G protEffect RYR1:p.Arg4914Gly RYR1:c.14741G>C protEffect RYR1:p.Arg4914Thr RYR1:c.14752G>A protEffect RYR1:p.Asp4918Asn RYR1:c.14759C>A protEffect RYR1:p.Thr4920Asn RYR1:c.14762T>C protEffect RYR1:p.Phe4921Ser RYR1:c.14779G>T protEffect RYR1:p.Val4927Phe RYR1:c.14814C>G protEffect RYR1:p.Ile4938Met RYR1:c.14817C>A protEffect RYR1:p.Asp4939Glu RYR1:c.14818G>A protEffect RYR1:p.Ala4940Thr RYR1:c.14822T>G protEffect RYR1:p.Phe4941Cys RYR1:c.14825G>T protEffect RYR1:p.Gly4942Val RYR1:c.14879T>A protEffect RYR1:p.Phe4960Tyr RYR1:c.14892C>A protEffect RYR1:p.Ile4964Ile RYR1:c.14918C>T protEffect RYR1:p.Pro4973Leu RYR1:c.152C>A protEffect RYR1:p.Thr51Asn RYR1:c.1534G>A protEffect RYR1:p.Glu512Lys RYR1:c.1565A>C protEffect RYR1:p.Tyr522Ser RYR1:c.1565A>G protEffect RYR1:p.Tyr522Cys RYR1:c.1589G>A protEffect RYR1:p.Arg530His RYR1:c.1597C>T protEffect RYR1:p.Arg533Cys RYR1:c.1598G>A protEffect RYR1:p.Arg533His RYR1:c.1615T>C protEffect RYR1:p.Phe539Leu RYR1:c.1654C>T protEffect RYR1:p.Arg552Trp RYR1:c.1668G>A protEffect RYR1:p.Ser556Ser RYR1:c.178G>A protEffect RYR1:p.Asp60Asn RYR1:c.1840C>T protEffect RYR1:p.Arg614Cys RYR1:c.1841G>T protEffect RYR1:p.Arg614Leu RYR1:c.1878T>G protEffect RYR1:p.Pro626Pro RYR1:c.190T>C protEffect RYR1:p.Cys64Arg RYR1:c.2121C>A protEffect RYR1:p.Gly707Gly RYR1:c.212C>A protEffect RYR1:p.Ser71Tyr RYR1:c.2223C>T protEffect RYR1:p.Asp741Asp RYR1:c.2286C>T protEffect RYR1:p.Pro762Pro RYR1:c.2455C>T protEffect RYR1:p.Arg819Stop RYR1:c.2537C>T protEffect RYR1:p.Ser846Leu RYR1:c.2712G>A protEffect RYR1:p.Pro904Pro RYR1:c.2943G>A protEffect RYR1:p.Thr981Thr RYR1:c.2943G>C protEffect RYR1:p.Thr981Thr RYR1:c.2979C>T protEffect RYR1:p.Asn993Asn RYR1:c.2996G>A protEffect RYR1:p.Arg999His RYR1:c.3042G>A protEffect RYR1:p.Ala1014Ala RYR1:c.3127C>T protEffect RYR1:p.Arg1043Cys RYR1:c.325C>T protEffect RYR1:p.Arg109Trp RYR1:c.3418C>T protEffect RYR1:p.Arg1140Cys RYR1:c.3456C>T protEffect RYR1:p.Ile1152Ile RYR1:c.38T>G protEffect RYR1:p.Leu13Arg RYR1:c.4024A>G protEffect RYR1:p.Ser1342Gly RYR1:c.4107C>T protEffect RYR1:p.Pro1369Pro RYR1:c.463C>A protEffect RYR1:p.Gln155Lys RYR1:c.467G>A protEffect RYR1:p.Arg156Lys RYR1:c.4719G>A protEffect RYR1:p.Pro1573Pro RYR1:c.4729G>A protEffect RYR1:p.Ala1577Thr RYR1:c.4775C>T protEffect RYR1:p.Pro1592Leu RYR1:c.479A>G protEffect RYR1:p.Glu160Gly RYR1:c.487C>T protEffect RYR1:p.Arg163Cys RYR1:c.488G>T protEffect RYR1:p.Arg163Leu RYR1:c.4934G>A protEffect RYR1:p.Arg1645Gln RYR1:c.493G>A protEffect RYR1:p.Gly165Arg RYR1:c.496G>A protEffect RYR1:p.Asp166Asn RYR1:c.497A>G protEffect RYR1:p.Asp166Gly RYR1:c.5110G>A protEffect RYR1:p.Gly1704Ser RYR1:c.5182T>C protEffect RYR1:p.Ser1728Pro RYR1:c.5183C>T protEffect RYR1:p.Ser1728Phe RYR1:c.5186T>G protEffect RYR1:p.Met1729Arg RYR1:c.529C>T protEffect RYR1:p.Arg177Cys RYR1:c.533A>T protEffect RYR1:p.Tyr178Phe RYR1:c.5360C>T protEffect RYR1:p.Pro1787Leu RYR1:c.5441T>A protEffect RYR1:p.Met1814Lys RYR1:c.5495G>C protEffect RYR1:p.Gly1832Ala RYR1:c.5619G>A protEffect RYR1:p.Glu1873Glu RYR1:c.573C>T protEffect RYR1:p.Asp191Asp RYR1:c.594A>G protEffect RYR1:p.Leu198Leu RYR1:c.5988C>T protEffect RYR1:p.Arg1996Arg RYR1:c.6039A>G protEffect RYR1:p.Lys2013Lys RYR1:c.6178G>T protEffect RYR1:p.Gly2060Cys RYR1:c.6349G>C protEffect RYR1:p.Val2117Leu RYR1:c.6387C>G protEffect RYR1:p.Asp2129Glu RYR1:c.6388G>A protEffect RYR1:p.Gly2130Arg RYR1:c.644G>A protEffect RYR1:p.Gly215Glu RYR1:c.6487C>T protEffect RYR1:p.Arg2163Cys RYR1:c.6488G>A protEffect RYR1:p.Arg2163His RYR1:c.6488G>C protEffect RYR1:p.Arg2163Pro RYR1:c.6502G>A protEffect RYR1:p.Val2168Met RYR1:c.652G>A protEffect RYR1:p.Val218Ile RYR1:c.6544A>T protEffect RYR1:p.Ile2182Phe RYR1:c.6599C>T protEffect RYR1:p.Ala2200Val RYR1:c.6612C>G protEffect RYR1:p.His2204Gln RYR1:c.6617C>G protEffect RYR1:p.Thr2206Arg RYR1:c.6617C>T protEffect RYR1:p.Thr2206Met RYR1:c.6628G>T protEffect RYR1:p.Val2210Phe RYR1:c.6635T>A protEffect RYR1:p.Val2212Asp RYR1:c.6635T>C protEffect RYR1:p.Val2212Ala RYR1:c.6640G>A protEffect RYR1:p.Val2214Ile RYR1:c.6669C>T protEffect RYR1:p.Ile2223Ile RYR1:c.677T>A protEffect RYR1:p.Met226Lys RYR1:c.680A>T protEffect RYR1:p.Asp227Val RYR1:c.6838G>A protEffect RYR1:p.Val2280Ile RYR1:c.6847A>C protEffect RYR1:p.Asn2283His RYR1:c.6961A>G protEffect RYR1:p.Ile2321Val RYR1:c.7007G>A protEffect RYR1:p.Arg2336His RYR1:c.7025A>G protEffect RYR1:p.Asn2342Ser RYR1:c.7032G>C protEffect RYR1:p.Glu2344Asp RYR1:c.7036G>A protEffect RYR1:p.Val2346Met RYR1:c.7043A>G protEffect RYR1:p.Glu2348Gly RYR1:c.7048G>A protEffect RYR1:p.Ala2350Thr RYR1:c.7063C>T protEffect RYR1:p.Arg2355Trp RYR1:c.7085A>G protEffect RYR1:p.Glu2362Gly RYR1:c.7089C>T protEffect RYR1:p.Cys2363Cys RYR1:c.7090T>G protEffect RYR1:p.Phe2364Val RYR1:c.7097C>G protEffect RYR1:p.Pro2366Arg RYR1:c.7098C>T protEffect RYR1:p.Pro2366Pro RYR1:c.7099G>A protEffect RYR1:p.Ala2367Thr RYR1:c.7102C>T protEffect RYR1:p.Leu2368Leu RYR1:c.7124G>C protEffect RYR1:p.Gly2375Ala RYR1:c.7209C>T protEffect RYR1:p.Arg2403Arg RYR1:c.7260C>T protEffect RYR1:p.His2420His RYR1:c.7261G>C protEffect RYR1:p.Ala2421Pro RYR1:c.7268T>A protEffect RYR1:p.Met2423Lys RYR1:c.7282G>A protEffect RYR1:p.Ala2428Thr RYR1:c.7291G>A protEffect RYR1:p.Asp2431Asn RYR1:c.7291G>T protEffect RYR1:p.Asp2431Tyr RYR1:c.7300G>A protEffect RYR1:p.Gly2434Arg RYR1:c.7304G>A protEffect RYR1:p.Arg2435His RYR1:c.7304G>T protEffect RYR1:p.Arg2435Leu RYR1:c.7310C>T protEffect RYR1:p.Ala2437Val RYR1:c.7317G>C protEffect RYR1:p.Glu2439Asp RYR1:c.7354C>T protEffect RYR1:p.Arg2452Trp RYR1:c.7355G>A protEffect RYR1:p.Arg2452Gln RYR1:c.7358T>C protEffect RYR1:p.Ile2453Thr RYR1:c.7360C>T protEffect RYR1:p.Arg2454Cys RYR1:c.7361G>A protEffect RYR1:p.Arg2454His RYR1:c.7372C>T protEffect RYR1:p.Arg2458Cys RYR1:c.7373G>A protEffect RYR1:p.Arg2458His RYR1:c.742G>A protEffect RYR1:p.Gly248Arg RYR1:c.742G>C protEffect RYR1:p.Gly248Arg RYR1:c.7487C>T protEffect RYR1:p.Pro2496Leu RYR1:c.7500G>T protEffect RYR1:p.Ala2500Ala RYR1:c.7522C>G protEffect RYR1:p.Arg2508Gly RYR1:c.7522C>T protEffect RYR1:p.Arg2508Cys RYR1:c.7523G>A protEffect RYR1:p.Arg2508His RYR1:c.7527G>A protEffect RYR1:p.Val2509Val RYR1:c.7528T>C protEffect RYR1:p.Tyr2510His RYR1:c.7584C>T protEffect RYR1:p.Pro2528Pro RYR1:c.7635G>C protEffect RYR1:p.Glu2545Asp RYR1:c.7648C>G protEffect RYR1:p.Leu2550Val RYR1:c.7771C>G protEffect RYR1:p.Arg2591Gly RYR1:c.7771C>T protEffect RYR1:p.Arg2591Trp RYR1:c.7787C>T protEffect RYR1:p.Thr2596Ile RYR1:c.7863C>T protEffect RYR1:p.His2621His RYR1:c.7872C>T protEffect RYR1:p.Arg2624Arg RYR1:c.7888G>C protEffect RYR1:p.Val2630Leu RYR1:c.7977G>A protEffect RYR1:p.Thr2659Thr RYR1:c.8026C>T protEffect RYR1:p.Arg2676Trp RYR1:c.8118T>C protEffect RYR1:p.Ile2706Ile RYR1:c.8188G>C protEffect RYR1:p.Asp2730His RYR1:c.8189A>G protEffect RYR1:p.Asp2730Gly RYR1:c.8190T>C protEffect RYR1:p.Asp2730Asp RYR1:c.8198G>A protEffect RYR1:p.Gly2733Asp RYR1:c.8290G>A protEffect RYR1:p.Glu2764Lys RYR1:c.8337G>A protEffect RYR1:p.Glu2779Glu RYR1:c.8360C>G protEffect RYR1:p.Thr2787Ser RYR1:c.8518C>T protEffect RYR1:p.Arg2840Trp RYR1:c.8589T>C protEffect RYR1:p.Ser2863Ser RYR1:c.8600T>A protEffect RYR1:p.Leu2867Gln RYR1:c.8638G>A protEffect RYR1:p.Glu2880Lys RYR1:c.873G>A protEffect RYR1:p.Ala291Ala RYR1:c.8816G>A protEffect RYR1:p.Arg2939Lys RYR1:c.9186A>G protEffect RYR1:p.Pro3062Pro RYR1:c.9310G>A protEffect RYR1:p.Glu3104Lys RYR1:c.9356G>A protEffect RYR1:p.Arg3119His RYR1:c.947G>T protEffect RYR1:p.Arg316Leu RYR1:c.9690G>A protEffect RYR1:p.Leu3230Leu RYR1:c.97A>G protEffect RYR1:p.Lys33Glu RYR1:c.982C>T protEffect RYR1:p.Arg328Trp SEPN1:c.1019A>T protEffect SEPN1:p.Asn340Ile SEPN1:c.1021G>A protEffect SEPN1:p.Val341Met SEPN1:c.1076T>C protEffect SEPN1:p.Ile359Thr SEPN1:c.1173T>C protEffect SEPN1:p.Pro391Pro SEPN1:c.1315C>T protEffect SEPN1:p.Arg439Stop SEPN1:c.1329G>A protEffect SEPN1:p.Glu443Glu SEPN1:c.1358G>C protEffect SEPN1:p.Trp453Ser SEPN1:c.1384T>G protEffect SEPN1:p.Stop462Gly SEPN1:c.1385G>A protEffect SEPN1:p.Stop462Stop SEPN1:c.1386A>G protEffect SEPN1:p.Stop462Trp SEPN1:c.1388G>T protEffect SEPN1:p.Gly463Val SEPN1:c.1397G>A protEffect SEPN1:p.Arg466Gln SEPN1:c.1405C>T protEffect SEPN1:p.Arg469Trp SEPN1:c.1406G>A protEffect SEPN1:p.Arg469Gln SEPN1:c.1469G>A protEffect SEPN1:p.Trp490Stop SEPN1:c.1469G>T protEffect SEPN1:p.Trp490Leu SEPN1:c.1506C>A protEffect SEPN1:p.Asn502Lys SEPN1:c.1574T>G protEffect SEPN1:p.Met525Arg SEPN1:c.1596C>T protEffect SEPN1:p.Gly532Gly SEPN1:c.1645G>A protEffect SEPN1:p.Val549Met SEPN1:c.1A>G protEffect SEPN1:p.Met1Val SEPN1:c.253A>G protEffect SEPN1:p.Met85Val SEPN1:c.2T>G protEffect SEPN1:p.Met1Arg SEPN1:c.409A>G protEffect SEPN1:p.Thr137Ala SEPN1:c.415G>A protEffect SEPN1:p.Ala139Thr SEPN1:c.425G>A protEffect SEPN1:p.Cys142Tyr SEPN1:c.42C>T protEffect SEPN1:p.Pro14Pro SEPN1:c.465G>A protEffect SEPN1:p.Thr155Thr SEPN1:c.481C>T protEffect SEPN1:p.Arg161Stop SEPN1:c.583G>A protEffect SEPN1:p.Ala195Thr SEPN1:c.817G>A protEffect SEPN1:p.Gly273Arg SEPN1:c.846C>T protEffect SEPN1:p.Ser282Ser SEPN1:c.872G>A protEffect SEPN1:p.Arg291Gln SEPN1:c.878A>G protEffect SEPN1:p.His293Arg SEPN1:c.943G>A protEffect SEPN1:p.Gly315Ser SEPN1:c.981C>T protEffect SEPN1:p.Arg327Arg SGCA:c.100C>T protEffect SGCA:p.Arg34Cys SGCA:c.101G>A protEffect SGCA:p.Arg34His SGCA:c.157G>A protEffect SGCA:p.Ala53Thr SGCA:c.184T>C protEffect SGCA:p.Tyr62His SGCA:c.203G>A protEffect SGCA:p.Gly68Glu SGCA:c.220C>T protEffect SGCA:p.Arg74Trp SGCA:c.229C>T protEffect SGCA:p.Arg77Cys SGCA:c.238C>T protEffect SGCA:p.Gln80Stop SGCA:c.241C>T protEffect SGCA:p.Arg81Cys SGCA:c.265C>T protEffect SGCA:p.Leu89Phe SGCA:c.269A>G protEffect SGCA:p.Tyr90Cys SGCA:c.271G>A protEffect SGCA:p.Gly91Ser SGCA:c.271G>C protEffect SGCA:p.Gly91Arg SGCA:c.278C>T protEffect SGCA:p.Ala93Val SGCA:c.290A>G protEffect SGCA:p.Asp97Gly SGCA:c.292C>A protEffect SGCA:p.Arg98Ser SGCA:c.292C>T protEffect SGCA:p.Arg98Cys SGCA:c.293G>A protEffect SGCA:p.Arg98His SGCA:c.301C>T protEffect SGCA:p.Gln101Stop SGCA:c.307A>T protEffect SGCA:p.Ile103Phe SGCA:c.308T>C protEffect SGCA:p.Ile103Thr SGCA:c.329G>T protEffect SGCA:p.Arg110Leu SGCA:c.371T>C protEffect SGCA:p.Ile124Thr SGCA:c.377A>G protEffect SGCA:p.Asp126Gly SGCA:c.402C>G protEffect SGCA:p.Tyr134Stop SGCA:c.403C>T protEffect SGCA:p.Gln135Stop SGCA:c.409G>A protEffect SGCA:p.Glu137Lys SGCA:c.416T>G protEffect SGCA:p.Leu139Arg SGCA:c.421C>A protEffect SGCA:p.Arg141Ser SGCA:c.432T>C protEffect SGCA:p.Asp144Asp SGCA:c.452C>G protEffect SGCA:p.Ser151Stop SGCA:c.472C>T protEffect SGCA:p.Leu158Phe SGCA:c.518T>C protEffect SGCA:p.Leu173Pro SGCA:c.524T>C protEffect SGCA:p.Val175Ala SGCA:c.528C>T protEffect SGCA:p.Thr176Thr SGCA:c.541C>T protEffect SGCA:p.Arg181Cys SGCA:c.574C>T protEffect SGCA:p.Arg192Stop SGCA:c.583G>A protEffect SGCA:p.Gly195Arg SGCA:c.586G>A protEffect SGCA:p.Val196Ile SGCA:c.600G>A protEffect SGCA:p.Val200Val SGCA:c.613C>T protEffect SGCA:p.Pro205Ser SGCA:c.614C>A protEffect SGCA:p.Pro205His SGCA:c.622A>G protEffect SGCA:p.Thr208Ala SGCA:c.623C>T protEffect SGCA:p.Thr208Ile SGCA:c.644C>T protEffect SGCA:p.Ser215Phe SGCA:c.662G>A protEffect SGCA:p.Arg221His SGCA:c.671A>C protEffect SGCA:p.Gln224Pro SGCA:c.680C>G protEffect SGCA:p.Pro227Arg SGCA:c.683C>A protEffect SGCA:p.Pro228Gln SGCA:c.695G>C protEffect SGCA:p.Cys232Ser SGCA:c.704C>A protEffect SGCA:p.Thr235Asn SGCA:c.712C>A protEffect SGCA:p.Pro238Thr SGCA:c.724G>T protEffect SGCA:p.Val242Phe SGCA:c.725T>C protEffect SGCA:p.Val242Ala SGCA:c.739G>A protEffect SGCA:p.Val247Met SGCA:c.73C>T protEffect SGCA:p.Gln25Stop SGCA:c.814G>T protEffect SGCA:p.Asp272Tyr SGCA:c.850C>T protEffect SGCA:p.Arg284Cys SGCA:c.88C>A protEffect SGCA:p.Pro30Thr SGCA:c.89C>T protEffect SGCA:p.Pro30Leu SGCA:c.92T>C protEffect SGCA:p.Leu31Pro SGCA:c.933C>T protEffect SGCA:p.Val311Val SGCA:c.935T>G protEffect SGCA:p.Met312Arg SGCB:c.166G>C protEffect SGCB:p.Gly56Arg SGCB:c.191T>G protEffect SGCB:p.Leu64Stop SGCB:c.1A>T protEffect SGCB:p.Met1Leu SGCB:c.212T>G protEffect SGCB:p.Leu71Arg SGCB:c.265G>A protEffect SGCB:p.Val89Met SGCB:c.271C>T protEffect SGCB:p.Arg91Cys SGCB:c.272G>C protEffect SGCB:p.Arg91Pro SGCB:c.272G>T protEffect SGCB:p.Arg91Leu SGCB:c.275T>C protEffect SGCB:p.Ile92Thr SGCB:c.299T>A protEffect SGCB:p.Met100Lys SGCB:c.2T>C protEffect SGCB:p.Met1Thr SGCB:c.31C>G protEffect SGCB:p.Gln11Glu SGCB:c.31C>T protEffect SGCB:p.Gln11Stop SGCB:c.323T>G protEffect SGCB:p.Leu108Arg SGCB:c.325C>T protEffect SGCB:p.Arg109Stop SGCB:c.341C>T protEffect SGCB:p.Ser114Phe SGCB:c.355A>T protEffect SGCB:p.Ile119Phe SGCB:c.376A>G protEffect SGCB:p.Thr126Ala SGCB:c.398A>G protEffect SGCB:p.Glu133Gly SGCB:c.416G>A protEffect SGCB:p.Gly139Asp SGCB:c.452C>G protEffect SGCB:p.Thr151Arg SGCB:c.499G>A protEffect SGCB:p.Gly167Ser SGCB:c.538T>C protEffect SGCB:p.Phe180Leu SGCB:c.544A>G protEffect SGCB:p.Thr182Ala SGCB:c.551A>G protEffect SGCB:p.Tyr184Cys SGCB:c.552T>G protEffect SGCB:p.Tyr184Stop SGCB:c.630C>G protEffect SGCB:p.Ser210Arg SGCB:c.799C>T protEffect SGCB:p.Arg267Cys SGCB:c.83A>G protEffect SGCB:p.Glu28Gly SGCB:c.856A>G protEffect SGCB:p.Lys286Glu SGCB:c.858G>T protEffect SGCB:p.Lys286Asn SGCB:c.85A>T protEffect SGCB:p.Arg29Stop SGCB:c.90G>T protEffect SGCB:p.Arg30Ser SGCB:c.911A>G protEffect SGCB:p.Asn304Ser SGCB:c.931G>A protEffect SGCB:p.Asp311Asn SGCD:c.212G>C protEffect SGCD:p.Arg71Thr SGCD:c.226G>T protEffect SGCD:p.Gly76Cys SGCD:c.277G>T protEffect SGCD:p.Glu93Stop SGCD:c.290G>A protEffect SGCD:p.Arg97Gln SGCD:c.309C>T protEffect SGCD:p.Tyr103Tyr SGCD:c.391G>C protEffect SGCD:p.Ala131Pro SGCD:c.451T>G protEffect SGCD:p.Ser151Ala SGCD:c.493C>T protEffect SGCD:p.Arg165Stop SGCD:c.593G>C protEffect SGCD:p.Arg198Pro SGCD:c.631A>T protEffect SGCD:p.Asn211Tyr SGCD:c.784G>A protEffect SGCD:p.Glu262Lys SGCD:c.84T>C protEffect SGCD:p.Tyr28Tyr SGCD:c.89G>A protEffect SGCD:p.Trp30Stop SGCG:c.205G>C protEffect SGCG:p.Gly69Arg SGCG:c.206G>C protEffect SGCG:p.Gly69Ala SGCG:c.228T>C protEffect SGCG:p.Asp76Asp SGCG:c.233T>C protEffect SGCG:p.Leu78Pro SGCG:c.240G>C protEffect SGCG:p.Leu80Phe SGCG:c.244G>A protEffect SGCG:p.Gly82Arg SGCG:c.269T>C protEffect SGCG:p.Leu90Ser SGCG:c.307C>G protEffect SGCG:p.Leu103Val SGCG:c.312T>G protEffect SGCG:p.Leu104Leu SGCG:c.317A>C protEffect SGCG:p.Gln106Pro SGCG:c.320C>T protEffect SGCG:p.Ser107Leu SGCG:c.347G>A protEffect SGCG:p.Arg116His SGCG:c.355G>T protEffect SGCG:p.Glu119Stop SGCG:c.496C>T protEffect SGCG:p.Arg166Stop SGCG:c.526G>T protEffect SGCG:p.Glu176Stop SGCG:c.551T>G protEffect SGCG:p.Val184Gly SGCG:c.581T>C protEffect SGCG:p.Leu194Ser SGCG:c.629A>G protEffect SGCG:p.His210Arg SGCG:c.690T>A protEffect SGCG:p.Ser230Arg SGCG:c.705T>C protEffect SGCG:p.Leu235Leu SGCG:c.787G>A protEffect SGCG:p.Glu263Lys SGCG:c.848G>A protEffect SGCG:p.Cys283Tyr SGCZ:c.571C>T protEffect SGCZ:p.His191Tyr SGCZ:c.573C>T protEffect SGCZ:p.His191His SGCZ:c.574T>C protEffect SGCZ:p.Ser192Pro SGCZ:c.793T>C protEffect SGCZ:p.Ser265Pro SGCZ:c.865G>A protEffect SGCZ:p.Gly289Ser SMN1:c.131A>T protEffect SMN1:p.Asp44Val SMN1:c.283G>C protEffect SMN1:p.Gly95Arg SMN1:c.305G>A protEffect SMN1:p.Trp102Stop SMN1:c.332C>G protEffect SMN1:p.Ala111Gly SMN1:c.346A>T protEffect SMN1:p.Ile116Phe SMN1:c.400G>A protEffect SMN1:p.Glu134Lys SMN1:c.406C>G protEffect SMN1:p.Gln136Glu SMN1:c.43C>T protEffect SMN1:p.Gln15Stop SMN1:c.5C>G protEffect SMN1:p.Ala2Gly SMN1:c.683T>A protEffect SMN1:p.Leu228Stop SMN1:c.734C>T protEffect SMN1:p.Pro245Leu SMN1:c.784A>G protEffect SMN1:p.Ser262Gly SMN1:c.785G>T protEffect SMN1:p.Ser262Ile SMN1:c.815A>G protEffect SMN1:p.Tyr272Cys SMN1:c.821C>T protEffect SMN1:p.Thr274Ile SMN1:c.823G>A protEffect SMN1:p.Gly275Ser SMN1:c.835G>T protEffect SMN1:p.Gly279Cys SMN1:c.836G>T protEffect SMN1:p.Gly279Val SMN1:c.88G>A protEffect SMN1:p.Asp30Asn SSPN:c.286T>C protEffect SSPN:p.Leu96Leu SSPN:c.401C>T protEffect SSPN:p.Thr134Met SSPN:c.557G>A protEffect SSPN:p.Ser186Asn SSPN:c.682G>A protEffect SSPN:p.Val228Ile SYNE1:c.12276C>T protEffect SYNE1:p.Leu4092Leu SYNE1:c.12363G>T protEffect SYNE1:p.Lys4121Asn SYNE1:c.21934C>T protEffect SYNE1:p.Gln7312Stop SYNE1:c.22452A>G protEffect SYNE1:p.Ser7484Ser SYNE1:c.22473G>A protEffect SYNE1:p.Leu7491Leu SYNE1:c.23131C>T protEffect SYNE1:p.Gln7711Stop SYNE1:c.24284G>A protEffect SYNE1:p.Arg8095His SYNE1:c.25159G>T protEffect SYNE1:p.Val8387Leu SYNE1:c.25381G>A protEffect SYNE1:p.Glu8461Lys SYNE1:c.26060C>T protEffect SYNE1:p.Thr8687Ile SYNE1:c.5190T>A protEffect SYNE1:p.Asp1730Glu SYNE1:c.8403C>T protEffect SYNE1:p.Tyr2801Tyr SYNE1:c.8656C>G protEffect SYNE1:p.Leu2886Val SYNE1:c.8693G>A protEffect SYNE1:p.Ser2898Asn SYNE1:c.8695A>T protEffect SYNE1:p.Arg2899Stop SYNE2:c.18632C>T protEffect SYNE2:p.Thr6211Met TCAP:c.145G>A protEffect TCAP:p.Glu49Lys TCAP:c.156C>T protEffect TCAP:p.His52His TCAP:c.157C>T protEffect TCAP:p.Gln53Stop TCAP:c.171C>G protEffect TCAP:p.Cys57Trp TCAP:c.191C>T protEffect TCAP:p.Ser64Leu TCAP:c.208C>G protEffect TCAP:p.Arg70Gly TCAP:c.225C>A protEffect TCAP:p.Gly75Gly TCAP:c.226C>T protEffect TCAP:p.Arg76Cys TCAP:c.260G>A protEffect TCAP:p.Arg87Gln TCAP:c.269C>T protEffect TCAP:p.Pro90Leu TCAP:c.316C>T protEffect TCAP:p.Arg106Cys TCAP:c.394G>C protEffect TCAP:p.Glu132Gln TCAP:c.410C>T protEffect TCAP:p.Thr137Ile TCAP:c.421C>G protEffect TCAP:p.Pro141Ala TCAP:c.447C>T protEffect TCAP:p.Pro149Pro TCAP:c.453A>C protEffect TCAP:p.Ala151Ala TCAP:c.458G>A protEffect TCAP:p.Arg153His TCAP:c.53G>A protEffect TCAP:p.Arg18Gln TCAP:c.75G>A protEffect TCAP:p.Trp25Stop TNNI2:c.466C>T protEffect TNNI2:p.Arg156Stop TNNI2:c.521G>A protEffect TNNI2:p.Arg174Gln TNNI2:c.60T>C protEffect TNNI2:p.Ser20Ser TNNT1:c.279A>G protEffect TNNT1:p.Glu93Glu TNNT1:c.35A>G protEffect TNNT1:p.Glu12Gly TNNT1:c.538G>T protEffect TNNT1:p.Glu180Stop TNNT1:c.795G>T protEffect TNNT1:p.Arg265Arg TNNT3:c.188G>A protEffect TNNT3:p.Arg63His TNNT3:c.328C>T protEffect TNNT3:p.Arg110Cys TNNT3:c.414G>A protEffect TNNT3:p.Glu138Glu TNNT3:c.636T>C protEffect TNNT3:p.Ile212Ile TNNT3:c.762C>T protEffect TNNT3:p.Gly254Gly TPM1:c.118G>A protEffect TPM1:p.Glu40Lys TPM1:c.160G>A protEffect TPM1:p.Glu54Lys TPM1:c.184G>C protEffect TPM1:p.Glu62Gln TPM1:c.188C>T protEffect TPM1:p.Ala63Val TPM1:c.209A>C protEffect TPM1:p.Lys70Thr TPM1:c.284T>C protEffect TPM1:p.Val95Ala TPM1:c.403C>A protEffect TPM1:p.Gln135Lys TPM1:c.515T>C protEffect TPM1:p.Ile172Thr TPM1:c.523G>A protEffect TPM1:p.Asp175Asn TPM1:c.539A>G protEffect TPM1:p.Glu180Gly TPM1:c.539A>T protEffect TPM1:p.Glu180Val TPM1:c.549T>G protEffect TPM1:p.Ala183Ala TPM1:c.554T>G protEffect TPM1:p.Leu185Arg TPM1:c.842T>C protEffect TPM1:p.Met281Thr TPM2:c.121G>A protEffect TPM2:p.Glu41Lys TPM2:c.271C>G protEffect TPM2:p.Arg91Gly TPM2:c.278A>G protEffect TPM2:p.Gln93Arg TPM2:c.349G>A protEffect TPM2:p.Glu117Lys TPM2:c.397C>T protEffect TPM2:p.Arg133Trp TPM2:c.398G>C protEffect TPM2:p.Arg133Pro TPM2:c.440A>C protEffect TPM2:p.Gln147Pro TPM2:c.5A>T protEffect TPM2:p.Asp2Val TPM2:c.699G>T protEffect TPM2:p.Lys233Asn TPM3:c.11C>T protEffect TPM3:p.Ala4Val TPM3:c.26T>G protEffect TPM3:p.Met9Arg TPM3:c.272G>C protEffect TPM3:p.Arg91Pro TPM3:c.298C>A protEffect TPM3:p.Leu100Met TPM3:c.502C>G protEffect TPM3:p.Arg168Gly TPM3:c.502C>T protEffect TPM3:p.Arg168Cys TPM3:c.503G>A protEffect TPM3:p.Arg168His TPM3:c.505A>G protEffect TPM3:p.Lys169Glu TPM3:c.721G>A protEffect TPM3:p.Glu241Lys TPM3:c.733A>G protEffect TPM3:p.Arg245Gly TPM3:c.857A>C protEffect TPM3:p.Stop286Ser TPM3:c.94C>T protEffect TPM3:p.Gln32Stop TRIM32:c.1181G>A protEffect TRIM32:p.Arg394His TRIM32:c.1254G>A protEffect TRIM32:p.Val418Val TRIM32:c.1459G>A protEffect TRIM32:p.Asp487Asn TRIM32:c.1815T>C protEffect TRIM32:p.Gly605Gly TRIM32:c.388C>T protEffect TRIM32:p.Pro130Ser TRIM32:c.770C>G protEffect TRIM32:p.Thr257Arg VCP:c.1732G>C protEffect VCP:p.Glu578Gln VCP:c.283C>G protEffect VCP:p.Arg95Gly VCP:c.463C>T protEffect VCP:p.Arg155Cys VCP:c.464G>A protEffect VCP:p.Arg155His VCP:c.464G>C protEffect VCP:p.Arg155Pro VCP:c.476G>A protEffect VCP:p.Arg159His VCP:c.572G>A protEffect VCP:p.Arg191Gln VCP:c.695C>A protEffect VCP:p.Ala232Glu VMA21:c.272G>C protEffect VMA21:p.Gly91Ala ZMPSTE24:c.1018T>C protEffect ZMPSTE24:p.Trp340Arg ZMPSTE24:c.121C>T protEffect ZMPSTE24:p.Gln41Stop ZMPSTE24:c.1249C>T protEffect ZMPSTE24:p.Gln417Stop ZMPSTE24:c.1349G>A protEffect ZMPSTE24:p.Trp450Stop ZMPSTE24:c.1385T>G protEffect ZMPSTE24:p.Leu462Arg ZMPSTE24:c.651T>C protEffect ZMPSTE24:p.Asp217Asp ZMPSTE24:c.691G>T protEffect ZMPSTE24:p.Glu231Stop ZMPSTE24:c.709G>T protEffect ZMPSTE24:p.Glu237Stop ZMPSTE24:c.743C>T protEffect ZMPSTE24:p.Pro248Leu ZMPSTE24:c.794A>G protEffect ZMPSTE24:p.Asn265Ser TTN_00008 commonName c.160G>A TTN_00008 protEffect TTN:p.Val54Met TTN_00029 commonName c.982C>T TTN_00029 protEffect TTN:p.Arg328Cys TTN_00001 commonName c.2219G>T TTN_00001 protEffect TTN:p.Arg740Leu TTN_00007 commonName c.2228C>T TTN_00007 protEffect TTN:p.Ala743Val TTN_00003 commonName c.2926T>C TTN_00003 protEffect TTN:p.Trp976Arg TTN_00013 commonName c.3380+283AC(12_13) TTN_00014 commonName c.8902+14TA(8_9) TTN_00012 commonName c.11312-5063G>T TTN_00011 commonName c.12347C>A TTN_00011 protEffect TTN:p.Ser4116Tyr TTN_00009 commonName c.13108C>T TTN_00009 protEffect TTN:p.Gln4370Stop TTN_00030 commonName c.13202G>A TTN_00030 protEffect TTN:p.Arg4401Gln TTN_00031 commonName c.13594A>C TTN_00031 protEffect TTN:p.Thr4532Pro TTN_00010 commonName c.14339G>A TTN_00010 protEffect TTN:p.Ser4780Asn TTN_00016 commonName c.17740+64A(10_11) TTN_00017 commonName c.26762-36GTTTT(5_9) TTN_00018 commonName c.30598+153A(11_12) TTN_00019 commonName c.32354-540A(22_25) TTN_00020 commonName c.34333+260AT(13_16) TTN_00028 commonName c.37583-4T>C TTN_00021 commonName c.40087+3TA(11_15) TTN_00022 commonName c.40163-116TA(21_23) TTN_00023 commonName c.40792+179AT(22_26) TTN_00027 commonName c.64073C>T TTN_00027 protEffect TTN:p.Thr21358Ile TTN_00002 commonName c.70555_70556dup TTN_00026 commonName c.94912A>G TTN_00026 protEffect TTN:p.Ser31638Gly TTN_00025 commonName c.99961G>A TTN_00025 protEffect TTN:p.Val33321Ile TTN_00004 commonName c.107645_107655insTGAAAGAAAAA TTN_00006 commonName c.107705T>A TTN_00006 protEffect TTN:p.Ile35902Asn TTN_00005 commonName c.107732T>C TTN_00005 protEffect TTN:p.Leu35911Pro TTN_00024 commonName c.*99dupA RettBASE_MECP2_e1:c.-46_-45delGC commonName MECP2_e1: c.-46_-45delGC RettBASE_MECP2_e1:c.-46_-45delGC phenoCommon Not Rett synd. - non-specific mental retardation RettBASE_MECP2_e1:c.-27_-26delAG commonName MECP2_e1: c.-27_-26delAG RettBASE_MECP2_e1:c.-27_-26delAG phenoCommon Not Rett synd. - non-specific mental retardation RettBASE_MECP2_e1:c.-27_-26delinsTT commonName MECP2_e1: c.-27_-26delinsTT RettBASE_MECP2_e1:c.-27_-26delinsTT phenoCommon Not Rett synd. - non-specific mental retardation RettBASE_c.-15C>T phenoCommon Not Rett synd. - Unaffected family member RettBASE_c.1038_1119del82 protEffect p.S346fs RettBASE_c.*487G>C phenoCommon Not Rett synd. - unaffected family member RettBASE_c.965C>T protEffect p.P322L RettBASE_c.880C>T protEffect p.R294X RettBASE_c.502C>T protEffect p.R168X RettBASE_c.752C>T protEffect p.P251L RettBASE_p.L386fs protEffect p.L386fs RettBASE_p.L386fs phenoCommon Rett syndrome - Classical RettBASE_c.590C>T protEffect p.T197M RettBASE_c.*93G>A phenoCommon Not Rett synd. - Non Rett syndrome control RettBASE_c.1157_1197del41 protEffect p.L386fs RettBASE_c.1104C>T protEffect p.H368H RettBASE_c.897C>T protEffect p.T299T RettBASE_c.473C>T protEffect p.T158M RettBASE_c.397C>T protEffect p.R133C RettBASE_c.819G>T protEffect p.G273G RettBASE_c.*8C>T phenoCommon Not Rett synd. - Unaffected family member RettBASE_c.806delG protEffect p.G269fs RettBASE_c.808C>T protEffect p.R270X RettBASE_c.916C>T protEffect p.R306C RettBASE_c.608C>T protEffect p.T203M RettBASE_c.1053_1054ins10 protEffect p.K352fs RettBASE_c.1103_1172del protEffect p.H368fs RettBASE_c.965_970del6 protEffect p.P322_L323del RettBASE_c.1118_1300del183ins61 protEffect p.S373fs RettBASE_c.1161_1166del6 protEffect p.P388_P389del RettBASE_c.1163_1173del11 protEffect p.P388fs RettBASE_c.802C>T protEffect p.R268W RettBASE_c.750C>T protEffect p.R250R RettBASE_c.*9G>A phenoCommon Not Rett synd. - autism only RettBASE_c.881_1169del289 protEffect p.R294_D398delinsHLSPRA RettBASE_c.1126C>T protEffect p.P376S RettBASE_c.1125_1137del13 protEffect p.S375fs RettBASE_c.777C>T protEffect p.A259A RettBASE_c.609G>A protEffect p.T203T RettBASE_c.*98dupA phenoCommon Rett syndrome - Not certain RettBASE_c.*122delT phenoCommon Rett syndrome - Not certain RettBASE_c.992_994delAGA protEffect p.K331del RettBASE_c.316C>T protEffect p.R106W RettBASE_p.S373X protEffect p.S373X RettBASE_p.S373X phenoCommon Rett syndrome - Atypical RettBASE_c.*177G>C phenoCommon Not Rett synd. - autism only RettBASE_c.*5348T>C phenoCommon Not Rett synd. - autism only RettBASE_c.1202G>A protEffect p.S401N RettBASE_c.710G>T protEffect p.G237V RettBASE_c.*36G>C phenoCommon Not Rett synd. - Angelman syndrome RettBASE_c.*139G>A phenoCommon Not Rett synd. - Autism only RettBASE_c.1132_1159del28 protEffect p.A378fs RettBASE_c.1147_1176del30 protEffect p.L383_E392del RettBASE_c.1063_1188del126 protEffect p.S355fs RettBASE_c.*92C>T phenoCommon Rett syndrome - Classical RettBASE_c.*328G>A phenoCommon Rett syndrome - Classical RettBASE_c.*359G>C phenoCommon Rett syndrome - Classical RettBASE_c.*363G>C phenoCommon Rett syndrome - Classical RettBASE_c.*204G>A phenoCommon Not Rett synd. - Autism RettBASE_c.*371G>C phenoCommon Not Rett synd. - Autism RettBASE_c.*544G>A phenoCommon Not Rett synd. - Autism RettBASE_c.*554G>A phenoCommon Not Rett synd. - Autism RettBASE_c.*767G>T phenoCommon Not Rett synd. - Autism RettBASE_c.*861T>G phenoCommon Not Rett synd. - Autism RettBASE_c.*878C>G phenoCommon Not Rett synd. - Autism RettBASE_c.*1368C>A phenoCommon Not Rett synd. - Autism RettBASE_c.*1737G>A phenoCommon Not Rett synd. - Autism RettBASE_c.*2556T>A phenoCommon Not Rett synd. - Autism RettBASE_c.*2657G>A phenoCommon Not Rett synd. - Autism RettBASE_c.*2706G>A phenoCommon Not Rett synd. - Autism RettBASE_c.*2956G>A phenoCommon Not Rett synd. - Autism RettBASE_c.*3477G>A phenoCommon Not Rett synd. - Autism RettBASE_c.*3658C>T phenoCommon Not Rett synd. - Autism RettBASE_c.*3878G>C phenoCommon Not Rett synd. - Autism RettBASE_c.*4576A>C phenoCommon Not Rett synd. - Autism RettBASE_c.*5486_*5487dupAT phenoCommon Not Rett synd. - Autism RettBASE_c.*7748C>T phenoCommon Not Rett synd. - Autism RettBASE_c.*7856A>C phenoCommon Not Rett synd. - Autism RettBASE_c.*8503delC phenoCommon Not Rett synd. - Autism RettBASE_c.*393G>A phenoCommon Not Rett synd. - Non-Rett syndrome control RettBASE_c.*489G>C phenoCommon Not Rett synd. - Non-Rett syndrome control RettBASE_c.*529G>T phenoCommon Not Rett synd. - Non-Rett syndrome control RettBASE_c.*806G>A phenoCommon Not Rett synd. - Non-Rett syndrome control RettBASE_c.*831G>C phenoCommon Not Rett synd. - Non-Rett syndrome control RettBASE_c.*875dupA phenoCommon Not Rett synd. - Non-Rett syndrome control RettBASE_c.*1237T>C phenoCommon Not Rett synd. - Non-Rett syndrome control RettBASE_c.*3662A>G phenoCommon Not Rett synd. - Non-Rett syndrome control RettBASE_c.*4086_*4087delGT phenoCommon Not Rett synd. - Non-Rett syndrome control RettBASE_c.*5839C>T phenoCommon Not Rett synd. - Non-Rett syndrome control RettBASE_c.26+22C>G protEffect p.D156E RettBASE_c.426C>T protEffect p.F142F RettBASE_c.27-5690_1208del7628ins42 protEffect p.R9fs RettBASE_c.834C>T protEffect p.A278A RettBASE_c.1158_1167del10 protEffect p.P387HfsX9 RettBASE_c.528C>G protEffect p.P176P RettBASE_c.1451G>C protEffect p.R484T RettBASE_c.1105_1116del12 protEffect p.H369_H372del RettBASE_c.1159_1174del16 protEffect p.P387fs RettBASE_c.1197_1237inv protEffect p.T400fs RettBASE_c.1317_*623delins22 protEffect p.A439fs RettBASE_c.1004_1037del protEffect p.G335fs RettBASE_c.947_1029delins1196_1254inv protEffect p.V316fs RettBASE_c.27-5862_1132del protEffect p.R9fs RettBASE_c.27-5944_1132del protEffect p.R9fs RettBASE_c.1129_1133delAAGGCinsGAGT protEffect p.K377fs RettBASE_c.1043_1056del14 protEffect p.E348fs RettBASE_c.1051_1065del15 protEffect p.P351_S355del RettBASE_c.641_653del13 protEffect p.E214_Q437delinsGSSLSRCLFKLRQGARLRGE RettBASE_c.380C>T protEffect p.P127L RettBASE_c.343C>T protEffect p.R155C RettBASE_c.27-?_377+?del protEffect p.R9fs RettBASE_c.27-?_1000+?dup protEffect p.? RettBASE_c.*1134G>A phenoCommon Rett syndrome - congenital RettBASE_c.1155_1172del18 protEffect p.L386_P391del RettBASE_CDKL5:c.*15C>T commonName CDKL5: c.*15C>T RettBASE_c.455C>G protEffect p.P152R RettBASE_c.*8503dupC phenoCommon Not Rett synd. - non-Rett syndrome control RettBASE_c.1121_1311del191 protEffect p.E374fs RettBASE_c.1363G>T protEffect p.E455X RettBASE_c.334A>T protEffect p.K112X RettBASE_p.F157L protEffect p.F157L RettBASE_p.F157L phenoCommon Rett syndrome - Classical RettBASE_c.398G>T protEffect p.R133L RettBASE_c.*92C>G phenoCommon Rett syndrome - classical RettBASE_c.377+28A>G protEffect p.T338T RettBASE_c.378-17delT protEffect p.[P389_P391del; P393L; E394fs] RettBASE_c.1035A>G protEffect p.K345K RettBASE_CDKL5:c.*131_*132delinsAT commonName CDKL5: c.*131_*132delinsAT RettBASE_CDKL5:c.*131_*132delinsAT phenoCommon Rett syndrome - congenital RettBASE_c.276_277insG protEffect p.P94fs RettBASE_MECP2_e1:c.1A>T commonName MECP2_e1: c.1A>T RettBASE_MECP2_e1:c.1A>T phenoCommon Rett syndrome - classical RettBASE_c.1-?_26+?del protEffect p.M1? RettBASE_c.1-?_26+?del phenoCommon Rett syndrome - classical RettBASE_c.1-?dup protEffect p.M1? RettBASE_c.1-?dup phenoCommon Rett syndrome - not certain RettBASE_c.1-?_26+?dup protEffect p.M1? RettBASE_c.1-?_26+?dup phenoCommon Rett syndrome - not certain RettBASE_MECP2_e1:c.1A>G commonName MECP2_e1: c.1A>G RettBASE_MECP2_e1:c.1A>G phenoCommon Rett syndrome - not certain RettBASE_MECP2_e1:c.5C>T commonName MECP2_e1: c.5C>T RettBASE_MECP2_e1:c.5C>T phenoCommon Rett syndrome - classical RettBASE_MECP2_e1:c.15_23dup9 commonName MECP2_e1: c.15_23dup9 RettBASE_MECP2_e1:c.15_23dup9 phenoCommon Not Rett synd. - non-specific mental retardation RettBASE_MECP2_e1:c.18_23dup6 commonName MECP2_e1: c.18_23dup6 RettBASE_MECP2_e1:c.18_23dup6 phenoCommon Rett syndrome - Atypical RettBASE_MECP2_e1:c.18_23del6 commonName MECP2_e1: c.18_23del6 RettBASE_MECP2_e1:c.18_23del6 phenoCommon Not Rett synd. - non-specific mental retardation RettBASE_MECP2_e1:c.21_23dup3 commonName MECP2_e1: c.21_23dup3 RettBASE_MECP2_e1:c.23_27dupCGCCG commonName MECP2_e1: c.23_27dupCGCCG RettBASE_MECP2_e1:c.23_27dupCGCCG phenoCommon Rett syndrome - classical RettBASE_c.26+2T>A phenoCommon Rett syndrome - Not certain RettBASE_c.27-8C>G phenoCommon Rett syndrome - Classical RettBASE_c.27-6C>G protEffect p.R9fs RettBASE_c.27-6C>G phenoCommon Rett syndrome - Not certain RettBASE_c.27-2A>G phenoCommon Rett syndrome - Not certain RettBASE_c.27-9A>G phenoCommon Rett syndrome - Classical RettBASE_c.27-12521_*5072del19784 protEffect p.R9fs RettBASE_c.27-12521_*5072del19784 phenoCommon Rett syndrome - Classical RettBASE_c.27-55G>A phenoCommon Not Rett synd. - Autism RettBASE_c.27-?_1337+?del protEffect p.R9fs RettBASE_c.27-?_1337+?del phenoCommon Rett syndrome - classical RettBASE_c.27-?_1185+?del protEffect p.R9fs RettBASE_c.27-?_1185+?del phenoCommon Rett syndrome - classical RettBASE_c.27-96_1205del protEffect p.R9fs RettBASE_c.27-96_1205del phenoCommon Rett syndrome - not certain RettBASE_c.27-4722_*739delins43 protEffect p.R9fs RettBASE_c.27-4722_*739delins43 phenoCommon Rett syndrome - not certain RettBASE_c.27-4722_*112delinsCACTTTGTG protEffect p.R9fs RettBASE_c.27-4722_*112delinsCACTTTGTG phenoCommon Rett syndrome - not certain RettBASE_c.27-6026_1190delinsGT protEffect p.R9fs RettBASE_c.27-6026_1190delinsGT phenoCommon Rett syndrome - not certain RettBASE_c.27-3928_1184del protEffect p.R9fs RettBASE_c.27-3928_1184del phenoCommon Rett syndrome - not certain RettBASE_c.27-5774_902delinsGTGCCCGGACTGATGTCA protEffect p.R9fs RettBASE_c.27-5774_902delinsGTGCCCGGACTGATGTCA phenoCommon Rett syndrome - not certain RettBASE_c.27-?_378+?del protEffect p.R9fs RettBASE_c.27-?_378+?del phenoCommon Rett syndrome - not certain RettBASE_c.27-?_1021+?del protEffect p.R9fs RettBASE_c.27-?_1021+?del phenoCommon Rett syndrome - not certain RettBASE_c.27-?_1170+?del protEffect p.R9fs RettBASE_c.27-?_1170+?del phenoCommon Rett syndrome - not certain RettBASE_c.27-?_1018+?del protEffect p.R9fs RettBASE_c.27-?_1018+?del phenoCommon Rett syndrome - classical RettBASE_c.27-?_1397+?del protEffect p.R9fs RettBASE_c.27-?_1397+?del phenoCommon Rett syndrome - classical RettBASE_c.28G>C protEffect p.E10Q RettBASE_c.28G>C phenoCommon Rett syndrome - forme fruste RettBASE_c.28G>T protEffect p.E10X RettBASE_c.28G>T phenoCommon Rett syndrome - not certain RettBASE_MECP2_e1:c.30delCinsGA commonName MECP2_e1: c.30delCinsGA RettBASE_MECP2_e1:c.30delCinsGA phenoCommon Rett syndrome - Classical RettBASE_c.35_42dup protEffect p.D15fs RettBASE_c.35_42dup phenoCommon Rett syndrome - Classical RettBASE_c.36G>C protEffect p.K12N RettBASE_c.36G>C phenoCommon Rett syndrome - not certain RettBASE_CDKL5:c.39delT commonName CDKL5: c.39delT RettBASE_CDKL5:c.39delT phenoCommon Not Rett synd. - epileptic encephalopathy RettBASE_MECP2_e1:c.42_47dupAGGAGG commonName MECP2_e1: c.42_47dupAGGAGG RettBASE_MECP2_e1:c.42_47dupAGGAGG phenoCommon Rett syndrome - not certain RettBASE_MECP2_e1:c.45_47dupAGG commonName MECP2_e1: c.45_47dupAGG RettBASE_c.46C>T protEffect p.Q16X RettBASE_MECP2_e1:c.47_57del11 commonName MECP2_e1: c.47_57del11 RettBASE_MECP2_e1:c.47_57del11 phenoCommon Rett syndrome - atypical RettBASE_MECP2_e1:c.48_55dup commonName MECP2_e1: c.48_55dup RettBASE_MECP2_e1:c.48_55dup phenoCommon Rett syndrome - classical RettBASE_MECP2_e1:c.49G>A commonName MECP2_e1: c.49G>A RettBASE_MECP2_e1:c.49G>A phenoCommon Not Rett synd. - non-specific mental retardation RettBASE_c.50dupA protEffect p.D17fs RettBASE_c.50dupA phenoCommon Rett syndrome - classical RettBASE_c.55C>T protEffect p.Q19X RettBASE_c.55C>T phenoCommon Rett syndrome - Atypical RettBASE_c.56dupA protEffect p.L21fs RettBASE_CDKL5:c.58G>C commonName CDKL5: c.58G>C RettBASE_CDKL5:c.58G>C phenoCommon Not Rett synd. - epileptic encephalopathy RettBASE_MECP2_e1:c.59_60delGA commonName MECP2_e1: c.59_60delGA RettBASE_MECP2_e1:c.59_60delGA phenoCommon Rett syndrome - classical RettBASE_MECP2_e1:c.62+2_62+3delTG commonName MECP2_e1: c.62+2_62+3delTG RettBASE_MECP2_e1:c.62+2_62+3delTG phenoCommon Rett syndrome - classical RettBASE_MECP2_e1:c.62+1G>A commonName MECP2_e1: c.62+1G>A RettBASE_MECP2_e1:c.62+1G>A phenoCommon Rett syndrome - classical RettBASE_c.64A>T protEffect p.K22X RettBASE_c.64A>T phenoCommon Rett syndrome - Classical RettBASE_CDKL5:c.64+2delT commonName CDKL5: c.64+2delT RettBASE_CDKL5:c.64+2delT phenoCommon Not Rett synd. - severe encephalopathy and refractory epilepsy RettBASE_CDKL5:c.65dupG commonName CDKL5:c.65dupG RettBASE_c.76delC protEffect p.L26fs RettBASE_c.76delC phenoCommon Rett syndrome - Classical RettBASE_c.91delG protEffect p.V31X RettBASE_c.91delG phenoCommon Rett syndrome - Classical RettBASE_CDKL5:c.99+1G>T commonName CDKL5: c.99+1G>T RettBASE_CDKL5:c.99+1G>T phenoCommon Not Rett synd. - severe encephalopathy and refractory epilepsy RettBASE_CDKL5:c.99+29T>G commonName CDKL5: c.99+29T>G RettBASE_c.100_103delGATA protEffect p.D34fs RettBASE_c.100_103delGATA phenoCommon Rett syndrome - Classical RettBASE_CDKL5:c.100-2A>G commonName CDKL5: c.100-2A>G RettBASE_CDKL5:c.100-2A>G phenoCommon Not Rett synd. - early-onset encephalopathy RettBASE_c.107_113del7 protEffect p.K36fs RettBASE_c.107_113del7 phenoCommon Rett syndrome - not certain RettBASE_c.107_108delAA protEffect p.K36fs RettBASE_c.107_108delAA phenoCommon Rett syndrome - classical RettBASE_c.108_111delAGAA protEffect p.E37fs RettBASE_c.108_111delAGAA phenoCommon Rett syndrome - Not certain RettBASE_c.117dupA protEffect p.E40fs RettBASE_c.117dupA phenoCommon Rett syndrome - not certain RettBASE_c.119_120delAG protEffect p.E40fs RettBASE_c.119_120delAG phenoCommon Rett syndrome - not certain RettBASE_CDKL5:c.119C>T commonName CDKL5: c.119C>T RettBASE_CDKL5:c.119C>T phenoCommon Rett syndrome - early seizure RettBASE_CDKL5:c.125A>G commonName CDKL5:c.125A>G RettBASE_c.126dupG protEffect p.H43fs RettBASE_c.126dupG phenoCommon Rett syndrome - Atypical RettBASE_c.140dupA protEffect p.P48fs RettBASE_c.140dupA phenoCommon Rett syndrome - classical RettBASE_CDKL5:c.145+2T>C commonName CDKL5: c.145+2T>C RettBASE_CDKL5:c.145+2T>C phenoCommon Rett syndrome - early-onset seizure RettBASE_CDKL5:c.145+4AT(11_13) commonName CDKL5: c.145+4AT(11_13) RettBASE_c.146C>A protEffect p.S49X RettBASE_c.146C>A phenoCommon Rett syndrome - Not certain RettBASE_c.146C>G protEffect p.S49X RettBASE_c.153C>G protEffect p.H51Q RettBASE_c.153C>G phenoCommon Not Rett synd. - unaffected family member RettBASE_c.155A>G protEffect p.H52R RettBASE_c.155A>G phenoCommon Not Rett synd. - not certain RettBASE_CDKL5:c.163_166delGAAA commonName CDKL5: c.163_166delGAAA RettBASE_CDKL5:c.163_166delGAAA phenoCommon Rett syndrome - early seizure RettBASE_c.167_168delCC protEffect p.P56fs RettBASE_c.168C>T protEffect p.P56P RettBASE_c.168C>T phenoCommon Rett syndrome - Not certain RettBASE_CDKL5:c.175C>T commonName CDKL5: c.175C>T RettBASE_CDKL5:c.175C>T phenoCommon Not Rett synd. - epileptic encephalopathy RettBASE_CDKL5:c.183delT commonName CDKL5: c.183delT RettBASE_CDKL5:c.183delT phenoCommon Rett syndrome - Atypical RettBASE_c.189_190delGA protEffect p.E63fs RettBASE_c.189_190delGA phenoCommon Rett syndrome - Classical RettBASE_CDKL5:c.191T>C commonName CDKL5: c.191T>C RettBASE_CDKL5:c.191T>C phenoCommon Not Rett synd. - severe encephalopathy and early-onset seizures RettBASE_c.194C>G protEffect p.S65X RettBASE_CDKL5:c.194G>A commonName CDKL5: c.194G>A RettBASE_CDKL5:c.194G>A phenoCommon Rett syndrome - atypical RettBASE_CDKL5:c.199C>T commonName CDKL5:c.199C>T RettBASE_c.201delG protEffect p.S68fs RettBASE_c.201delG phenoCommon Rett syndrome - Not certain RettBASE_c.203C>G protEffect p.S68X RettBASE_c.203C>G phenoCommon Rett syndrome - classical RettBASE_c.210C>T protEffect p.S70S RettBASE_c.215C>T protEffect p.P72L RettBASE_CDKL5:c.215T>A commonName CDKL5: c.215T>A RettBASE_CDKL5:c.215T>A phenoCommon Rett syndrome - atypical RettBASE_c.215dupC protEffect p.A73fs RettBASE_c.215dupC phenoCommon Rett syndrome - classical RettBASE_c.215_216insT protEffect p.A73fs RettBASE_c.215_216insT phenoCommon Rett syndrome - not certain RettBASE_CDKL5:c.215T>C commonName CDKL5: c.215T>C RettBASE_CDKL5:c.215T>C phenoCommon Rett syndrome - atypical RettBASE_CDKL5:c.216T>A commonName CDKL5: c.216T>A RettBASE_CDKL5:c.216T>A phenoCommon Rett syndrome - atypical RettBASE_c.224C>T protEffect p. P75L RettBASE_c.225G>A protEffect p.P75P RettBASE_c.225G>A phenoCommon Not Rett synd. - mental retardation RettBASE_c.229_238del10 protEffect p.A77fs RettBASE_CDKL5:c.229_232delGAAG commonName CDKL5: c.229_232delGAAG RettBASE_CDKL5:c.229_232delGAAG phenoCommon Not Rett synd. - severe encephalopathy and refractory epilepsy RettBASE_c.233delC protEffect p.S78fs RettBASE_c.233delC phenoCommon Rett syndrome - classical RettBASE_c.243dupC protEffect p.K82fs RettBASE_c.243dupC phenoCommon Rett syndrome - classical RettBASE_c.245A>G protEffect p.K82R RettBASE_c.245A>G phenoCommon Not Rett synd. - Non-Rett syndrome control RettBASE_c.249_250ins7 protEffect p.R84fs RettBASE_c.257C>G protEffect p.S86C RettBASE_c.257C>G phenoCommon Rett syndrome - Not certain RettBASE_c.258_259delCA protEffect p.I87fs RettBASE_c.258_259delCA phenoCommon Rett syndrome - Not certain RettBASE_FOXG1:c.263_278del16 commonName FOXG1:c.263_278del16 RettBASE_c.274G>T protEffect p.G92X RettBASE_c.274G>T phenoCommon Rett syndrome - classical RettBASE_c.275dupG protEffect p.P93fs RettBASE_c.275dupG phenoCommon Rett syndrome - not certain RettBASE_c.277C>T protEffect p.P93S RettBASE_c.277C>T phenoCommon Rett syndrome - Classical RettBASE_c.279C>T protEffect p.P93P RettBASE_c.279C>T phenoCommon Rett syndrome - atypical RettBASE_CDKL5:c.283-43G>A commonName CDKL5: c.283-43G>A RettBASE_CDKL5:c.283-99C>A commonName CDKL5: c.283-99C>A RettBASE_CDKL5:c.283-99C>A phenoCommon Not known - infantile intractable epilepsy RettBASE_c.289G>T protEffect p.D97Y RettBASE_c.289G>T phenoCommon Rett syndrome - Not certain RettBASE_c.291C>A protEffect p.D97E RettBASE_c.291C>A phenoCommon Rett syndrome - Not certain RettBASE_c.295_297delACC protEffect p.T99del RettBASE_c.295_297delACC phenoCommon Rett syndrome - classical RettBASE_c.297C>G protEffect p.T99T RettBASE_c.297C>G phenoCommon Rett syndrome - Not certain RettBASE_c.298C>G protEffect p.L100V RettBASE_c.298C>G phenoCommon Rett syndrome - Not certain RettBASE_c.299T>G protEffect p.L100R RettBASE_c.299T>G phenoCommon Rett syndrome - classical RettBASE_c.301C>T protEffect p.P101S RettBASE_c.301C>T phenoCommon Rett syndrome - Classical RettBASE_c.302C>G protEffect p.P101R RettBASE_c.302C>G phenoCommon Rett syndrome - Not certain RettBASE_c.302C>A protEffect p.P101H RettBASE_c.302C>A phenoCommon Rett syndrome - Classical RettBASE_c.302C>T protEffect p.P101L RettBASE_c.302C>T phenoCommon Rett syndrome - Classical RettBASE_c.308G>A protEffect p.G103D RettBASE_c.308G>A phenoCommon Rett syndrome - atypical RettBASE_c.310T>C protEffect p.W104R RettBASE_c.310T>C phenoCommon Rett syndrome - not certain RettBASE_c.311_323del13 protEffect p.W104fs RettBASE_c.311_323del13 phenoCommon Rett syndrome - Atypical RettBASE_c.311G>A protEffect p.W104X RettBASE_c.311G>A phenoCommon Rett syndrome - Classical RettBASE_c.315dupA protEffect p.R106fs RettBASE_c.315dupA phenoCommon Rett syndrome - classical RettBASE_c.316C>G protEffect p.R106G RettBASE_c.316C>G phenoCommon Rett syndrome - Classical RettBASE_c.317G>A protEffect p.R106Q RettBASE_c.317G>A phenoCommon Rett syndrome - Classical RettBASE_c.317G>T protEffect p.R106L RettBASE_c.317G>T phenoCommon Rett syndrome - Classical RettBASE_c.323T>A protEffect p.L108H RettBASE_c.323T>A phenoCommon Rett syndrome - Classical RettBASE_c.326dupA protEffect p.Q110fs RettBASE_c.326dupA phenoCommon Rett syndrome - Classical RettBASE_c.331A>G protEffect p.R111G RettBASE_c.331A>G phenoCommon Rett syndrome - Not certain RettBASE_c.341G>C protEffect p.G114A RettBASE_c.341G>C phenoCommon Rett syndrome - Not certain RettBASE_c.343_1182del1596 protEffect p.R115_E394del RettBASE_c.343_1182del1596 phenoCommon Rett syndrome - not certain RettBASE_c.345delC protEffect p.S116fs RettBASE_c.345delC phenoCommon Rett syndrome - Classical RettBASE_CDKL5:c.352C>T commonName CDKL5: c.352C>T RettBASE_CDKL5:c.352C>T phenoCommon Rett syndrome - atypical RettBASE_c.358T>G protEffect p.Y120D RettBASE_c.358T>G phenoCommon Rett syndrome - not certain RettBASE_c.362A>G protEffect p.D121G RettBASE_c.364G>A protEffect p.V122M RettBASE_c.364G>A phenoCommon Rett syndrome - not certain RettBASE_c.365T>C protEffect p.V122A RettBASE_c.365T>C phenoCommon Not Rett synd. RettBASE_c.372G>C protEffect p.L124F RettBASE_c.372G>C phenoCommon Rett syndrome - Classical RettBASE_c.372G>T protEffect p.L124F RettBASE_c.372G>T phenoCommon Rett syndrome - classical RettBASE_c.375delC protEffect p.N126fs RettBASE_c.375delC phenoCommon Rett syndrome - Classical RettBASE_c.375C>A protEffect p.I125I RettBASE_c.375C>A phenoCommon Rett syndrome - Not certain RettBASE_c.377+2T>G phenoCommon Rett syndrome - Not certain RettBASE_c.377+6_377+9del phenoCommon Not Rett synd. - autism only RettBASE_c.377+95G>A phenoCommon Not Rett synd. - autism only RettBASE_c.377+18C>G phenoCommon Not Rett synd. - Autism RettBASE_c.377+24C>A phenoCommon Not Rett synd. - mental retardation RettBASE_c.377+1G>T phenoCommon Rett syndrome - classical RettBASE_c.377+266T>C phenoCommon Not Rett synd. - unaffected family member RettBASE_c.377+1G>A phenoCommon Rett syndrome - Classical RettBASE_c.378-2A>G phenoCommon Rett syndrome - Not certain RettBASE_c.378-2A>C phenoCommon Rett syndrome - Not certain RettBASE_c.378-241C>T phenoCommon Rett syndrome - Classical RettBASE_c.378-3C>G phenoCommon Rett syndrome - Classical RettBASE_c.378-?_1337+?del protEffect p.N126fs RettBASE_c.378-?_1337+?del phenoCommon Rett syndrome - classical RettBASE_c.378-?_1185+?del protEffect p.N126fs RettBASE_c.378-?_1185+?del phenoCommon Rett syndrome - classical RettBASE_c.378-2A>T phenoCommon Rett syndrome - not certain RettBASE_c.378-?_1170+?del protEffect p.N126fs RettBASE_c.378-?_1170+?del phenoCommon Rett syndrome - not certain RettBASE_c.378-3_383del9 protEffect p.N126KfsX11 RettBASE_c.378-3_383del9 phenoCommon Not Rett synd. - Severe congenital encephalopathy RettBASE_c.378-109A>G phenoCommon Rett syndrome - Atypical RettBASE_c.378-14G>A phenoCommon Rett syndrome - Classical RettBASE_CDKL5:c.380A>G commonName CDKL5: c.380A>G RettBASE_CDKL5:c.380A>G phenoCommon Rett syndrome - not specified RettBASE_c.382C>T protEffect p.Q128X RettBASE_c.382C>T phenoCommon Rett syndrome - not certain RettBASE_c.382_1189del808 protEffect p.Q128fs RettBASE_c.382_1189del808 phenoCommon Rett syndrome - not certain RettBASE_c.383A>C protEffect p.Q128P RettBASE_c.383A>C phenoCommon Rett syndrome - late regression RettBASE_c.386G>T protEffect p.G129V RettBASE_c.392C>A protEffect p.A131D RettBASE_c.392C>A phenoCommon Rett syndrome - classical RettBASE_c.393C>G protEffect p.A131A RettBASE_c.393C>G phenoCommon Rett syndrome - Not certain RettBASE_c.397C>G protEffect p.R133G RettBASE_c.398G>A protEffect p.R133H RettBASE_c.398G>A phenoCommon Rett syndrome - Not certain RettBASE_c.400T>C protEffect p.S134P RettBASE_c.400T>C phenoCommon Rett syndrome - Classical RettBASE_CDKL5:c.400C>T commonName CDKL5: c.400C>T RettBASE_CDKL5:c.400C>T phenoCommon Not Rett synd. - early-onset seizures and mental retardation RettBASE_c.401C>G protEffect p.S134C RettBASE_c.401C>G phenoCommon Rett syndrome - Not certain RettBASE_c.401C>T protEffect p.S134F RettBASE_c.403A>G protEffect p.K135E RettBASE_c.403A>G phenoCommon Rett syndrome - Not certain RettBASE_CDKL5:c.403+49_403+53delTTAAG commonName CDKL5: c.403+49_403+53delTTAAG RettBASE_CDKL5:c.403+49_403+53delTTAAG phenoCommon Not Rett synd. - Early-onset myoclonic epilepsy RettBASE_CDKL5:c.404-1G>T commonName CDKL5: c.404-1G>T RettBASE_CDKL5:c.404-1G>T phenoCommon Not Rett synd. - X-linked West syndrome RettBASE_c.410A>G protEffect p.E137G RettBASE_c.410A>G phenoCommon Not Rett synd. - X-linked mental retardation RettBASE_c.411delG protEffect p.E137fs RettBASE_c.411delG phenoCommon Rett syndrome - Not certain RettBASE_c.413T>A protEffect p.L138X RettBASE_c.413T>A phenoCommon Rett syndrome - not certain RettBASE_c.413T>C protEffect p.L138S RettBASE_c.413T>C phenoCommon Rett syndrome - classical RettBASE_c.419C>T protEffect p.A140V RettBASE_c.419C>T phenoCommon Not Rett synd. - X-linked mental retardation RettBASE_c.420delG protEffect p.Y141fs RettBASE_c.420delG phenoCommon Rett syndrome - Classical RettBASE_c.422dupA protEffect p.Y141X RettBASE_c.422A>G protEffect p.Y141C RettBASE_c.422A>G phenoCommon Rett syndrome - Atypical RettBASE_c.423C>G protEffect p.Y141X RettBASE_c.423C>G phenoCommon Rett syndrome - Classical RettBASE_CDKL5:c.425T>A commonName CDKL5: c.425T>A RettBASE_CDKL5:c.425T>A phenoCommon Not Rett synd. - severe encephalopathy and refractory epilepsy RettBASE_c.428_429insT protEffect p.E143fs RettBASE_c.428_429insT phenoCommon Rett syndrome - Not certain RettBASE_c.430A>T protEffect p.K144X RettBASE_c.430A>T phenoCommon Rett syndrome - Not certain RettBASE_c.431delA protEffect p.K144fs RettBASE_c.431delA phenoCommon Rett syndrome - Classical RettBASE_c.439delG protEffect p.D147fs RettBASE_c.439delG phenoCommon Rett syndrome - Not certain RettBASE_c.451delG protEffect p.D151fs RettBASE_c.451delG phenoCommon Rett syndrome - atypical RettBASE_c.452A>G protEffect p.D151G RettBASE_c.452A>G phenoCommon Rett syndrome - atypical RettBASE_c.454C>G protEffect p.P152A RettBASE_c.454C>G phenoCommon Not Rett synd. - Pervasive developmental disorder-not otherwise specified RettBASE_CDKL5:c.455G>T commonName CDKL5: c.455G>T RettBASE_CDKL5:c.455G>T phenoCommon Rett syndrome - Not certain RettBASE_FOXG1:c.460dupG commonName FOXG1: c.460dupG RettBASE_FOXG1:c.460dupG phenoCommon Rett syndrome - congenital RettBASE_c.463T>A protEffect p.F155I RettBASE_c.463T>A phenoCommon Rett syndrome - Not certain RettBASE_CDKL5:c.463+22T>C commonName CDKL5: c.463+22T>C RettBASE_CDKL5:c.463+1G>A commonName CDKL5: c.463+1G>A RettBASE_CDKL5:c.463+1G>A phenoCommon Rett syndrome - atypical RettBASE_c.464T>C protEffect p.F155S RettBASE_c.464T>C phenoCommon Rett syndrome - Classical RettBASE_c.464T>G protEffect p.F155C RettBASE_c.464T>G phenoCommon Rett syndrome - Atypical RettBASE_CDKL5:c.464-2A>G commonName CDKL5: c.464-2A>G RettBASE_CDKL5:c.464-2A>G phenoCommon Rett syndrome - atypical RettBASE_CDKL5:c.464-40_464-37delCTTT commonName CDKL5: c.464-40_464-37delCTTT RettBASE_c.467A>G protEffect p.D156G RettBASE_c.467A>G phenoCommon Rett syndrome - Not certain RettBASE_c.467A>C protEffect p.D156A RettBASE_c.467A>C phenoCommon Rett syndrome - classical RettBASE_c.468C>T protEffect p.D156E RettBASE_c.468C>T phenoCommon Rett syndrome - not certain RettBASE_c.469T>A protEffect p.F157I RettBASE_c.469T>A phenoCommon Rett syndrome - Not certain RettBASE_c.470dupT protEffect p.T158fs RettBASE_c.470dupT phenoCommon Rett syndrome - Not certain RettBASE_c.470_471delTC protEffect p.F157fs RettBASE_c.470_471delTC phenoCommon Rett syndrome - preserved speech RettBASE_c.471C>G protEffect p.F157L RettBASE_c.471C>G phenoCommon Rett syndrome - classical RettBASE_c.472A>G protEffect p.T158A RettBASE_c.472A>G phenoCommon Rett syndrome - Preserved speech RettBASE_c.474G>A protEffect p.T158T RettBASE_c.474G>A phenoCommon Rett syndrome - Not certain RettBASE_c.475delG protEffect p.V159X RettBASE_c.475delG phenoCommon Rett syndrome - not certain RettBASE_c.479C>G protEffect p.T160S RettBASE_c.480_481delTG protEffect p.G161fs RettBASE_c.480_481delTG phenoCommon Rett syndrome - Atypical RettBASE_c.480delT protEffect p.R162fs RettBASE_c.480delT phenoCommon Rett syndrome - not certain RettBASE_c.481G>T protEffect p.G161W RettBASE_c.481G>T phenoCommon Rett syndrome - Not certain RettBASE_c.481_987del507ins8 protEffect p.G161fs RettBASE_c.481_987del507ins8 phenoCommon Rett syndrome - Classical RettBASE_c.482G>T protEffect p.G161V RettBASE_c.482G>T phenoCommon Rett syndrome - atypical RettBASE_c.482G>A protEffect p.G161E RettBASE_c.482G>A phenoCommon Rett syndrome - classical RettBASE_c.483delG protEffect p.R162fs RettBASE_c.483delG phenoCommon Rett syndrome - Not certain RettBASE_c.484dupA protEffect p.R162fs RettBASE_c.484dupA phenoCommon Rett syndrome - classical RettBASE_c.488_489delGG protEffect p.G163fs RettBASE_c.488_489delGG phenoCommon Not Rett synd. - Progressive encephalopathy of neonatal onset RettBASE_c.488_1189del702 protEffect p.G163_S392del RettBASE_c.488_1189del702 phenoCommon Rett syndrome - not certain RettBASE_c.495delC protEffect p.G166fs RettBASE_c.499C>T protEffect p.R167W RettBASE_c.499C>T phenoCommon Not Rett synd. - X-linked mental retardation RettBASE_c.508C>T protEffect p.Q170X RettBASE_c.508C>T phenoCommon Rett syndrome - Classical RettBASE_CDKL5:c.513C>A commonName CDKL5:c.513C>A RettBASE_c.514C>T protEffect p.P172S RettBASE_c.514C>T phenoCommon Not Rett synd. - mental retardation and autism combined RettBASE_c.515C>T protEffect p.P172L RettBASE_c.515C>T phenoCommon Not Rett synd. - sporadic mental retardation RettBASE_c.517C>G protEffect p.P173A RettBASE_c.517C>G phenoCommon Rett syndrome - Not certain RettBASE_c.518C>G protEffect p.P173R RettBASE_c.523A>T protEffect p.K175X RettBASE_CDKL5:c.525A>T commonName CDKL5: c.525A>T RettBASE_CDKL5:c.525A>T phenoCommon Rett syndrome - Not certain RettBASE_c.527C>G protEffect p.P176R RettBASE_c.527C>G phenoCommon Rett syndrome - Not certain RettBASE_c.529A>T protEffect p.K177X RettBASE_c.531delA protEffect p.K177fs RettBASE_c.531delA phenoCommon Rett syndrome - Not certain RettBASE_CDKL5:c.532C>T commonName CDKL5: c.532C>T RettBASE_CDKL5:c.532C>T phenoCommon Rett syndrome - congenital onset RettBASE_CDKL5:c.533G>C commonName CDKL5: c.533G>C RettBASE_CDKL5:c.533G>C phenoCommon Not Rett synd. - Severe encephalopathy and early-onset seizures RettBASE_CDKL5:c.533G>A commonName CDKL5: c.533G>A RettBASE_CDKL5:c.533G>A phenoCommon Not Rett synd. - epileptic encephalopathy RettBASE_c.538A>T protEffect p.K180X RettBASE_c.538A>T phenoCommon Rett syndrome - not certain RettBASE_CDKL5:c.539C>T commonName CDKL5: c.539C>T RettBASE_CDKL5:c.539C>T phenoCommon Not Rett synd. - epileptic encephalopathy RettBASE_c.542C>T protEffect p.A181V RettBASE_c.542C>T phenoCommon Not Rett synd. - autism only RettBASE_c.543_544delTC protEffect p.P182fs RettBASE_c.543_544delTC phenoCommon Rett syndrome - classical RettBASE_c.547G>C protEffect p.G183R RettBASE_c.547G>C phenoCommon Not Rett synd. - mental retardation RettBASE_CDKL5:c.549dupA commonName CDKL5:c.549dupA RettBASE_c.554delG protEffect p.G185fs RettBASE_c.554delG phenoCommon Rett syndrome - Not certain RettBASE_CDKL5:c.554+11G>A commonName CDKL5: c.554+11G>A RettBASE_CDKL5:c.554+11G>A phenoCommon Rett syndrome - atypical RettBASE_CDKL5:c.555-19C>G commonName CDKL5: c.555-19C>G RettBASE_CDKL5:c.555-19C>G phenoCommon Not Rett synd. - not certain RettBASE_c.566delG protEffect p.G189fs RettBASE_c.566delG phenoCommon Rett syndrome - Classical RettBASE_c.566dupG protEffect p.R190fs RettBASE_c.566dupG phenoCommon Rett syndrome - Classical RettBASE_c.567dupA protEffect p.R190fs RettBASE_c.567dupA phenoCommon Rett syndrome - Not certain RettBASE_c.573C>T protEffect p.P191P RettBASE_c.573C>T phenoCommon Not Rett synd. - mental retardation RettBASE_CDKL5:c.578A>G commonName CDKL5:c.578A>G RettBASE_c.585C>T protEffect p.G195G RettBASE_c.587C>G protEffect p.T196S RettBASE_c.587C>G phenoCommon Not Rett synd. - Schizophrenia RettBASE_CDKL5:c.587C>T commonName CDKL5:c.587C>T RettBASE_c.591G>A protEffect p.T197T RettBASE_c.591G>A phenoCommon Not Rett synd. - autism only RettBASE_c.592A>T protEffect p.R198X RettBASE_c.592A>T phenoCommon Rett syndrome - Classical RettBASE_c.596C>A protEffect p.P199H RettBASE_c.596C>A phenoCommon Not Rett synd. - schizophrenia RettBASE_c.598A>T protEffect p.K200X RettBASE_c.598A>T phenoCommon Rett syndrome - Classical RettBASE_c.601dupG protEffect p.A201fs RettBASE_c.601dupG phenoCommon Rett syndrome - Not certain RettBASE_c.603G>A protEffect p.A201A RettBASE_c.603G>A phenoCommon Not Rett synd. - normal control RettBASE_CDKL5:c.607G>T commonName CDKL5: c.607G>T RettBASE_CDKL5:c.607G>T phenoCommon Rett syndrome - early seizure RettBASE_c.608_609insA protEffect p.S204fs RettBASE_c.608_609insA phenoCommon Rett syndrome - not certain RettBASE_c.611C>G protEffect p.S204X RettBASE_c.611C>G phenoCommon Rett syndrome - Not certain RettBASE_c.611_612delinsAG protEffect p.S204X RettBASE_c.611_612delinsAG phenoCommon Rett syndrome - Not certain RettBASE_c.613G>T protEffect p.E205X RettBASE_c.613G>T phenoCommon Rett syndrome - Not certain RettBASE_c.616_1122del507 protEffect p.G206_E374del RettBASE_c.616_1122del507 phenoCommon Rett syndrome - classical RettBASE_c.617delG protEffect p.G206fs RettBASE_c.617delG phenoCommon Rett syndrome - Classical RettBASE_c.617G>C protEffect p.G206A RettBASE_c.617G>C phenoCommon Not Rett synd. - Autism RettBASE_c.617G>A protEffect p.V209V RettBASE_c.617G>A phenoCommon Not Rett synd. - normal control RettBASE_c.620dupT protEffect p.Q208fs RettBASE_c.620dupT phenoCommon Rett syndrome - Classical RettBASE_c.622C>T protEffect p.Q208X RettBASE_c.622C>T phenoCommon Rett syndrome - Classical RettBASE_c.629A>T protEffect p.K210I RettBASE_c.629A>T phenoCommon Rett syndrome - Not certain RettBASE_c.631-?_657+?del protEffect p.? RettBASE_c.631-?_657+?del phenoCommon Rett syndrome - classical RettBASE_c.631-?_657+?dup protEffect p.? RettBASE_c.631-?_657+?dup phenoCommon Rett syndrome - preserved speech RettBASE_c.633G>C protEffect p.R211S RettBASE_c.633G>C phenoCommon Rett syndrome - Classical RettBASE_c.635_655del21 protEffect p.V212_K219delinsE RettBASE_c.635_655del21 phenoCommon Rett syndrome - Not certain RettBASE_c.651_652delTG protEffect p.G218fs RettBASE_c.654_657delGAAG protEffect p.K219fs RettBASE_c.654_657delGAAG phenoCommon Rett syndrome - Classical RettBASE_CDKL5:c.659T>C commonName CDKL5: c.659T>C RettBASE_CDKL5:c.659T>C phenoCommon Not Rett synd. - severe epileptic encephalopathy with infantile spasms RettBASE_c.660C>T protEffect p.L220L RettBASE_c.660C>T phenoCommon Not Rett synd. - autism RettBASE_c.666C>G protEffect p.V222V RettBASE_c.666C>G phenoCommon Rett syndrome - Preserved speech RettBASE_c.673C>A protEffect p.P225T RettBASE_c.674C>T protEffect p.P225L RettBASE_c.674C>T phenoCommon Rett syndrome - Male variant RettBASE_c.676_677insA protEffect p.F226fs RettBASE_c.676_677insA phenoCommon Rett syndrome - not certain RettBASE_c.677_678insA protEffect p.F226fs RettBASE_c.677_678insA phenoCommon Rett syndrome - Classical RettBASE_c.679C>G protEffect p.Q227E RettBASE_c.679C>G phenoCommon Not Rett synd. - sporadic mental retardation RettBASE_CDKL5:c.680T>G commonName CDKL5: c.680T>G RettBASE_CDKL5:c.680T>G phenoCommon Not Rett synd. - early-onset encephalopathy RettBASE_c.686C>T protEffect p.S229L RettBASE_c.686C>T phenoCommon Rett syndrome - Classical RettBASE_c.686C>A protEffect p.S229X RettBASE_c.689_756del68 protEffect p.P230fs RettBASE_c.690A>C protEffect p.P230P RettBASE_c.695delG protEffect p.G232fs RettBASE_c.695delG phenoCommon Rett syndrome - Classical RettBASE_c.695dupG protEffect p.K233fs RettBASE_c.695dupG phenoCommon Rett syndrome - not certain RettBASE_c.696delC protEffect p.K233fs RettBASE_c.696delC phenoCommon Rett syndrome - Classical RettBASE_c.710dupG protEffect p.G238fs RettBASE_c.710dupG phenoCommon Rett syndrome - Not certain RettBASE_c.710delG protEffect p.G237fs RettBASE_c.710delG phenoCommon Rett syndrome - Not certain RettBASE_c.711_1269del559 protEffect p.G238fs RettBASE_c.711_1269del559 phenoCommon Rett syndrome - not certain RettBASE_c.715delG protEffect p.A239fs RettBASE_c.720dupC protEffect p.T241fs RettBASE_c.720dupC phenoCommon Rett syndrome - Not certain RettBASE_c.720C>T protEffect p.T240T RettBASE_c.720C>G protEffect p.T240T RettBASE_c.720C>G phenoCommon Not Rett synd. - autism only RettBASE_c.730C>T protEffect p.Q244X RettBASE_c.730C>T phenoCommon Rett syndrome - Not certain RettBASE_FOXG1:c.730C>T commonName FOXG1: c.730C>T RettBASE_FOXG1:c.730C>T phenoCommon Rett syndrome - congenital RettBASE_c.731_1166del436 protEffect p.Q244fs RettBASE_c.731_1166del436 phenoCommon Rett syndrome - Not certain RettBASE_c.734_759del26 protEffect p.V245fs RettBASE_c.734_759del26 phenoCommon Rett syndrome - classical RettBASE_c.736_737insAT protEffect p.M246fs RettBASE_c.736_737insAT phenoCommon Rett syndrome - Classical RettBASE_c.736_743delinsGTG protEffect p.M246fs RettBASE_c.739delG protEffect p.V247fs RettBASE_c.739delG phenoCommon Rett syndrome - classical RettBASE_c.747_751dup5 protEffect p.P251fs RettBASE_c.747_751dup5 phenoCommon Rett syndrome - Not certain RettBASE_c.748dupC protEffect p.R250fs RettBASE_c.748dupC phenoCommon Rett syndrome - Not certain RettBASE_c.748_753del6insGGCCG protEffect p.R250fs RettBASE_c.748_753del6insGGCCG phenoCommon Rett syndrome - Not certain RettBASE_c.748_749insT protEffect p.R250fs RettBASE_c.748_749insT phenoCommon Rett syndrome - not certain RettBASE_c.749G>A protEffect p.R250H RettBASE_c.749G>A phenoCommon Rett syndrome - Not certain RettBASE_c.750_750delCinsTCAGGAAGCTT protEffect p.P251fs RettBASE_c.750_750delCinsTCAGGAAGCTT phenoCommon Rett syndrome - Not certain RettBASE_c.752_753dup protEffect p.G252fs RettBASE_c.752_753dup phenoCommon Rett syndrome - Not certain RettBASE_c.752_753dupCC protEffect p.G252fs RettBASE_c.753dupC protEffect p.G252fs RettBASE_c.753dupC phenoCommon Rett syndrome - Not certain RettBASE_c.753delC protEffect p.G252fs RettBASE_c.753delC phenoCommon Rett syndrome - Not certain RettBASE_c.753C>T protEffect p.P251P RettBASE_c.753C>T phenoCommon Rett syndrome - classical RettBASE_c.755delG protEffect p.G252fs RettBASE_c.755delG phenoCommon Rett syndrome - atypical RettBASE_c.755dupG protEffect p.R253fs RettBASE_c.755dupG phenoCommon Rett syndrome - classical RettBASE_FOXG1:c.755G>T commonName FOXG1:c.755G>T RettBASE_c.756_759delCAGG protEffect p.R253fs RettBASE_c.756_759delCAGG phenoCommon Rett syndrome - Classical RettBASE_c.756_763dup protEffect p.R255fs RettBASE_c.756_763dup phenoCommon Rett syndrome - classical RettBASE_FOXG1:c.757A>G commonName FOXG1:c.757A>G RettBASE_c.760A>T protEffect p.K254X RettBASE_c.763_1383del621ins15 protEffect p.R255_I461delins5 RettBASE_c.764_765ins8 protEffect p.R255fs RettBASE_c.766_779dup14 protEffect p.D260fs RettBASE_c.766_779dup14 phenoCommon Rett syndrome - classical RettBASE_c.784C>T protEffect p.Q262X RettBASE_c.784C>T phenoCommon Rett syndrome - classical RettBASE_c.792_793delTC protEffect p.P265fs RettBASE_c.792_793delTC phenoCommon Rett syndrome - Not certain RettBASE_c.795C>G protEffect p.P265P RettBASE_c.795C>G phenoCommon Rett syndrome - atypical RettBASE_c.799A>T protEffect p.K267X RettBASE_c.799A>T phenoCommon Rett syndrome - classical RettBASE_CDKL5:c.801_802delTA commonName CDKL5: c.801_802delTA RettBASE_CDKL5:c.801_802delTA phenoCommon Not Rett synd. - ISSX RettBASE_c.807_*125del780 protEffect p.R270_S486delinsQ RettBASE_c.808delC protEffect p.R270fs RettBASE_c.808delC phenoCommon Rett syndrome - Not certain RettBASE_c.810_813delAAAG protEffect p.K271fs RettBASE_c.810_813delAAAG phenoCommon Rett syndrome - classical RettBASE_c.812_818del7 protEffect p.K271fs RettBASE_c.812_818del7 phenoCommon Rett syndrome - Classical RettBASE_c.815C>T protEffect p.P272L RettBASE_c.815C>T phenoCommon Rett syndrome - Not certain RettBASE_c.816_832del17 protEffect p.G273fs RettBASE_c.816_832del17 phenoCommon Rett syndrome - Classical RettBASE_c.819delG protEffect p.S274fs RettBASE_c.822_1184del363 protEffect p.V275_S396del RettBASE_c.822_1184del363 phenoCommon Rett syndrome - not certain RettBASE_c.830delC protEffect p.A277fs RettBASE_c.830delC phenoCommon Rett syndrome - classical RettBASE_c.830_831ins23 protEffect p.A277fs RettBASE_c.830_831ins23 phenoCommon Rett syndrome - not certain RettBASE_c.834_939del106 protEffect p.A279fs RettBASE_c.836C>T protEffect p.A279V RettBASE_c.836C>T phenoCommon Rett syndrome - classical RettBASE_CDKL5:c.838_847del10 commonName CDKL5: c.838_847del10 RettBASE_CDKL5:c.838_847del10 phenoCommon Rett syndrome - atypical RettBASE_c.840C>T protEffect p.A280A RettBASE_c.840C>T phenoCommon Not Rett synd. - Unaffected family member RettBASE_c.843C>T protEffect p.A281A RettBASE_c.843C>T phenoCommon Rett syndrome - Not certain RettBASE_c.849_1236del388 protEffect p.K284fs RettBASE_c.849_1236del388 phenoCommon Rett syndrome - Not certain RettBASE_c.849C>G protEffect p.A283A RettBASE_c.849C>G phenoCommon Not Rett synd. - X-linked mental retardation RettBASE_c.850A>G protEffect p.K284E RettBASE_c.850A>G phenoCommon Not Rett synd. - X-linked mental retardation RettBASE_c.851_1188del338 protEffect p.K284fs RettBASE_c.851_1188del338 phenoCommon Rett syndrome - not certain RettBASE_c.854dupA protEffect p.K286fs RettBASE_CDKL5:c.855A>C commonName CDKL5:c.855A>C RettBASE_c.857A>G protEffect p.K286R RettBASE_c.859G>C protEffect p.A287P RettBASE_c.859G>C phenoCommon Rett syndrome - Not certain RettBASE_CDKL5:c.863C>T commonName CDKL5: c.863C>T RettBASE_CDKL5:c.863C>T phenoCommon Not Rett synd. - Severe encephalopathy and early-onset seizures RettBASE_c.864dupG protEffect p.K289fs RettBASE_c.865A>T protEffect p.K289X RettBASE_c.865A>T phenoCommon Rett syndrome - Classical RettBASE_c.865_866delAA protEffect p.K289fs RettBASE_c.865_866delAA phenoCommon Rett syndrome - not certain RettBASE_CDKL5:c.867dupA commonName CDKL5: c.867dupA RettBASE_CDKL5:c.867dupA phenoCommon Not Rett synd. - severe encephalopathy and refractory epilepsy RettBASE_c.869dupA protEffect p.S291fs RettBASE_c.869dupA phenoCommon Rett syndrome - classical RettBASE_CDKL5:c.872G>A commonName CDKL5: c.872G>A RettBASE_CDKL5:c.872G>A phenoCommon Not Rett synd. - Severe encephalopathy and early-onset seizures RettBASE_c.874_875insA protEffect p.S292fs RettBASE_c.874_875insA phenoCommon Rett syndrome - classical RettBASE_c.880_884del5 protEffect p.R294fs RettBASE_c.880_884del5 phenoCommon Rett syndrome - Not certain RettBASE_c.881G>C protEffect p.R294P RettBASE_c.881G>C phenoCommon Rett syndrome - Not certain RettBASE_c.881_902del22 protEffect p.R294fs RettBASE_c.881_902del22 phenoCommon Rett syndrome - not certain RettBASE_c.883delT protEffect p.S295fs RettBASE_c.883delT phenoCommon Rett syndrome - not certain RettBASE_CDKL5:c.884delC commonName CDKL5: c.884delC RettBASE_CDKL5:c.884delC phenoCommon Not Rett synd. - early-onset seizures and mental retardation RettBASE_c.889C>T protEffect p.Q297X RettBASE_c.889C>T phenoCommon Rett syndrome - Classical RettBASE_c.894_1095del202 protEffect p.E298fs RettBASE_c.894_1095del202 phenoCommon Rett syndrome - not certain RettBASE_c.898_1099del202 protEffect p.V300fs RettBASE_c.898_1099del202 phenoCommon Rett syndrome - Classical RettBASE_c.898G>A protEffect p.V300I RettBASE_c.898G>A phenoCommon Rett syndrome - Classical RettBASE_c.898_904del7 protEffect p.V300fs RettBASE_c.898_904del7 phenoCommon Rett syndrome - Not certain RettBASE_c.898_901del protEffect p.V300fs RettBASE_c.898_901del phenoCommon Rett syndrome - classical RettBASE_c.898delG protEffect p.V300fs RettBASE_c.898delG phenoCommon Rett syndrome - not certain RettBASE_c.900_908del protEffect p.L301_I303del RettBASE_c.900_908del phenoCommon Rett syndrome - forme fruste RettBASE_CDKL5:c.902_903dupGA commonName CDKL5: c.902_903dupGA RettBASE_CDKL5:c.902_903dupGA phenoCommon Not Rett synd. - Angelman syndrome RettBASE_c.903C>T protEffect p.L301L RettBASE_c.903C>T phenoCommon Rett syndrome - Classical RettBASE_c.904C>G protEffect p.P302A RettBASE_c.904C>G phenoCommon Rett syndrome - Preserved speech RettBASE_c.904C>T protEffect p.P302S RettBASE_c.904C>T phenoCommon Rett syndrome - Classical RettBASE_c.904C>A protEffect p.P302T RettBASE_c.904C>A phenoCommon Rett syndrome - classical RettBASE_CDKL5:c.904C>T commonName CDKL5: c.904C>T RettBASE_CDKL5:c.904C>T phenoCommon Not Rett synd. - epileptic encephalopathy RettBASE_c.905C>G protEffect p.P302R RettBASE_c.905C>G phenoCommon Rett syndrome - Not certain RettBASE_c.905C>A protEffect p.P302H RettBASE_c.905C>A phenoCommon Rett syndrome - Not certain RettBASE_c.905_1138del234insCAC protEffect p.I303_V380delinsL RettBASE_c.905_1138del234insCAC phenoCommon Rett syndrome - not certain RettBASE_c.906C>G protEffect p.P302P RettBASE_c.906C>G phenoCommon Not Rett synd. - mental retardation RettBASE_c.906delC protEffect p.I303fs RettBASE_c.906delC phenoCommon Rett syndrome - not certain RettBASE_c.908T>G protEffect p.I303S RettBASE_c.908T>G phenoCommon Rett syndrome - not certain RettBASE_c.909C>G protEffect p.I303M RettBASE_c.909C>G phenoCommon Not Rett synd. RettBASE_c.910A>G protEffect p.K304E RettBASE_c.911A>G protEffect p.K304R RettBASE_c.913A>G protEffect p.K305E RettBASE_c.913A>G phenoCommon Rett syndrome - not certain RettBASE_c.914A>G protEffect p.K305R RettBASE_c.914A>G phenoCommon Rett syndrome - Not certain RettBASE_c.914_1172del259 protEffect p.K305fs RettBASE_c.914_1172del259 phenoCommon Rett syndrome - Not certain RettBASE_c.917G>A protEffect p.R306H RettBASE_c.917G>A phenoCommon Rett syndrome - Not certain RettBASE_c.925C>T protEffect p.R309W RettBASE_c.925C>T phenoCommon Rett syndrome - atypical RettBASE_c.932C>T protEffect p.T311M RettBASE_c.932C>T phenoCommon Rett syndrome - Not certain RettBASE_c.942C>T protEffect p.I314I RettBASE_c.942C>T phenoCommon Not Rett synd. - mental retardation RettBASE_c.943_1140del198ins6 protEffect p.E315_V380delins2 RettBASE_c.948C>G protEffect p.V316V RettBASE_c.953A>C protEffect p.E318A RettBASE_c.964C>G protEffect p.P322A RettBASE_c.964C>G phenoCommon Rett syndrome - Classical RettBASE_c.964C>T protEffect p.P322S RettBASE_c.964C>T phenoCommon Not Rett synd. - Sporadic mental retardation RettBASE_CDKL5:c.964dupA commonName CDKL5: c.964dupA RettBASE_CDKL5:c.964dupA phenoCommon Not Rett synd. - early onset epileptic encephalopathy RettBASE_CDKL5:c.978-2A>G commonName CDKL5: c.978-2A>G RettBASE_CDKL5:c.978-2A>G phenoCommon Not Rett synd. - epileptic encephalopathy RettBASE_CDKL5:c.978-50_978-42del9 commonName CDKL5: c.978-50_978-42del9 RettBASE_CDKL5:c.978-50_978-42del9 phenoCommon Not Rett synd. - not certain RettBASE_CDKL5:c.978-23T>C commonName CDKL5: c.978-23T>C RettBASE_CDKL5:c.978-23T>C phenoCommon Not Rett synd. - neonatal seizures, severe epilepsy and mental retardation RettBASE_c.982C>G protEffect p.L328V RettBASE_c.982C>G phenoCommon Rett syndrome - not certain RettBASE_c.984C>A protEffect p.L328L RettBASE_c.985G>A protEffect p.G329S RettBASE_c.985G>A phenoCommon Not Rett synd. - schizophrenia RettBASE_c.989_996del8ins18 protEffect p.E330fs RettBASE_c.989_996del8ins18 phenoCommon Rett syndrome - Classical RettBASE_c.992A>G protEffect p.K331R RettBASE_c.992A>G phenoCommon Rett syndrome - congenital RettBASE_c.994_1346del353 protEffect p.S332fs RettBASE_c.994_1346del353 phenoCommon Rett syndrome - Classical RettBASE_c.994_998delAGCGG protEffect p.S332fs RettBASE_c.994_998delAGCGG phenoCommon Rett syndrome - Atypical RettBASE_c.996C>T protEffect p.S332S RettBASE_c.996C>T phenoCommon Not Rett synd. - autism spectrum disorder RettBASE_c.1009_1027del19 protEffect p.K337fs RettBASE_c.1009_1027del19 phenoCommon Rett syndrome - not certain RettBASE_c.1012_1202del191 protEffect p.T338fs RettBASE_c.1012_1202del191 phenoCommon Rett syndrome - Not certain RettBASE_c.1012_1193del182 protEffect p.T338fs RettBASE_c.1012_1193del182 phenoCommon Rett syndrome - Not certain RettBASE_c.1015T>C protEffect p.C339R RettBASE_c.1015T>C phenoCommon Rett syndrome - not certain RettBASE_c.1017-?_1397+?del protEffect p.? RettBASE_c.1017-?_1397+?del phenoCommon Rett syndrome - atypical RettBASE_c.1023_*14472del14911 protEffect p.S341fs RettBASE_c.1023_*14472del14911 phenoCommon Rett syndrome - Classical RettBASE_c.1030_1195del166insGT protEffect p.R344fs RettBASE_c.1030_1195del166insGT phenoCommon Rett syndrome - Not certain RettBASE_c.1030C>T protEffect p.R344W RettBASE_c.1030C>T phenoCommon Rett syndrome - Not certain RettBASE_c.1038C>G protEffect p.S346R RettBASE_c.1038C>G phenoCommon Rett syndrome - Classical RettBASE_c.1039_1195del157insGT protEffect p.K347fs RettBASE_c.1039_1195del157insGT phenoCommon Rett syndrome - Not certain RettBASE_CDKL5:c.1039C>T commonName CDKL5: c.1039C>T RettBASE_CDKL5:c.1039C>T phenoCommon Not Rett synd. - epileptic encephalopathy RettBASE_c.1041_*29del450 protEffect p.K347_S486delins17 RettBASE_c.1043_1173del131insTG protEffect p.E348_P391delinsV RettBASE_c.1043_1173del131insTG phenoCommon Rett syndrome - Not certain RettBASE_c.1046_1206del161 protEffect p.S349fs RettBASE_c.1046_1206del161 phenoCommon Rett syndrome - not certain RettBASE_c.1047_1198del152 protEffect p.S350fs RettBASE_c.1047_1198del152 phenoCommon Rett syndrome - not certain RettBASE_c.1048_1095del48 protEffect p.S350_E365del RettBASE_c.1048_1095del48 phenoCommon Rett syndrome - not certain RettBASE_c.1052_1200del149 protEffect p.P351fs RettBASE_c.1052_1200del149 phenoCommon Rett syndrome - Atypical RettBASE_c.1057_1219del163 protEffect p.G353fs RettBASE_c.1057_1219del163 phenoCommon Rett syndrome - classical RettBASE_c.1061_1156del96 protEffect p.R352_P385del RettBASE_c.1061_1156del96 phenoCommon Rett syndrome - Classical RettBASE_c.1065C>T protEffect p.S355S RettBASE_c.1065C>T phenoCommon Rett syndrome - Not certain RettBASE_c.1069_1071delAGC protEffect p.S357del RettBASE_c.1069_1071delAGC phenoCommon Rett syndrome - Classical RettBASE_c.1072G>A protEffect p.A358T RettBASE_c.1072G>A phenoCommon Rett syndrome - not certain RettBASE_c.1075T>C protEffect p.S359P RettBASE_c.1075T>C phenoCommon Rett syndrome - Male variant RettBASE_c.1078_*2524del2908 protEffect p.S360fs RettBASE_c.1078_*2524del2908 phenoCommon Rett syndrome - not certain RettBASE_c.1079C>A protEffect p.S360X RettBASE_c.1079C>A phenoCommon Rett syndrome - Not certain RettBASE_CDKL5:c.1079delT commonName CDKL5: c.1079delT RettBASE_CDKL5:c.1079delT phenoCommon Not Rett synd. - epileptic encephalopathy RettBASE_c.1081C>G protEffect p.P361A RettBASE_CDKL5:c.1082dupC commonName CDKL5: c.1082dupC RettBASE_CDKL5:c.1082dupC phenoCommon Not Rett synd. - early-onset seizures and mental retardation RettBASE_c.1087A>T protEffect p.K363X RettBASE_c.1096_1201del106 protEffect p.H366fs RettBASE_c.1096_1201del106 phenoCommon Rett syndrome - Not certain RettBASE_c.1097_*13del378 protEffect p.H366_S486delins22 RettBASE_c.1097_*13del378 phenoCommon Rett syndrome - Not certain RettBASE_c.1097_1203del107 protEffect p.H366fs RettBASE_c.1097_1203del107 phenoCommon Rett syndrome - Classical RettBASE_c.1099_1118del20 protEffect p.H367fs RettBASE_c.1099_1118del20 phenoCommon Rett syndrome - Not certain RettBASE_c.1101_1201del101 protEffect p.H367fs RettBASE_c.1101_1201del101 phenoCommon Rett syndrome - Not certain RettBASE_c.1101_1396+?del protEffect p.H367fs RettBASE_c.1101_1396+?del phenoCommon Rett syndrome - Classical RettBASE_c.1105delC protEffect p.H369fs RettBASE_c.1105_1225del121 protEffect p.H369fs RettBASE_c.1105_1225del121 phenoCommon Rett syndrome - not certain RettBASE_c.1115_1201del87 protEffect p.H372_S401delinsR RettBASE_c.1115_1326del212 protEffect p.H372fs RettBASE_c.1115_1326del212 phenoCommon Rett syndrome - atypical RettBASE_c.1116_1201del86 protEffect p.H372fs RettBASE_c.1116_1201del86 phenoCommon Rett syndrome - Classical RettBASE_c.1118C>G protEffect p.S373X RettBASE_c.1121_1191del71 protEffect p.E374fs RettBASE_c.1121_1191del71 phenoCommon Rett syndrome - Not certain RettBASE_c.1123_1191del69 protEffect p.S375_E397del RettBASE_c.1123_1191del69 phenoCommon Rett syndrome - Not certain RettBASE_c.1123_1202del80 protEffect p.S375fs RettBASE_c.1123_1202del80 phenoCommon Rett syndrome - Not certain RettBASE_c.1127_1179del53 protEffect p.P376fs RettBASE_c.1127_1179del53 phenoCommon Rett syndrome - Not certain RettBASE_c.1127C>G protEffect p.P376R RettBASE_c.1127C>G phenoCommon Not Rett synd. - autism only RettBASE_c.1127_1137del11 protEffect p.P376fs RettBASE_c.1127_1137del11 phenoCommon Rett syndrome - not certain RettBASE_c.1128_1179del52 protEffect p.K377fs RettBASE_c.1129_1193del65 protEffect p.K377fs RettBASE_c.1129_*568delinsCCGTGG protEffect p.K377fs RettBASE_c.1129_*568delinsCCGTGG phenoCommon Rett syndrome - not certain RettBASE_c.1132_1202del71 protEffect p.A378fs RettBASE_c.1132_1202del71 phenoCommon Rett syndrome - Not certain RettBASE_c.1133C>T protEffect p.A378V RettBASE_c.1133C>T phenoCommon Rett syndrome - not certain RettBASE_c.1135_1142delCCCGTGCC protEffect p.P379fs RettBASE_c.1135_1142delCCCGTGCC phenoCommon Not Rett synd. - Sporadic mental retardation RettBASE_c.1137C>T protEffect p.P379P RettBASE_c.1137C>T phenoCommon Not Rett synd. - autism only RettBASE_c.1138G>A protEffect p.V380M RettBASE_c.1138G>A phenoCommon Not Rett synd. - mental retardation RettBASE_c.1141C>G protEffect p.P381A RettBASE_c.1141C>G phenoCommon Rett syndrome - classical RettBASE_c.1142_1227del86 protEffect p.P381fs RettBASE_c.1142_1227del86 phenoCommon Rett syndrome - male variant RettBASE_c.1145_1194del50 protEffect p.L382fs RettBASE_c.1145_1194del50 phenoCommon Rett syndrome - Classical RettBASE_c.1150_1192del43 protEffect p.P384fs RettBASE_c.1150_1192del43 phenoCommon Rett syndrome - Not certain RettBASE_c.1151_1188del38 protEffect p.P384fs RettBASE_c.1151_1188del38 phenoCommon Rett syndrome - Classical RettBASE_c.1151_1191del41 protEffect p.P384fs RettBASE_c.1151_1191del41 phenoCommon Rett syndrome - preserved speech RettBASE_c.1151_1183del33 protEffect p.P384_S395delinsR RettBASE_c.1151_1183del33 phenoCommon Rett syndrome - not certain RettBASE_c.1152_1155del4 protEffect p.P385fs RettBASE_c.1152_1155del4 phenoCommon Rett syndrome - Atypical RettBASE_c.1153_1190del38 protEffect p.P385fs RettBASE_c.1153_1190del38 phenoCommon Rett syndrome - Not certain RettBASE_c.1154_1185del32 protEffect p.P385fs RettBASE_c.1154_1185del32 phenoCommon Rett syndrome - Male variant RettBASE_c.1154_1197del44 protEffect p.P385fs RettBASE_c.1154_1197del44 phenoCommon Rett syndrome - Forme fruste RettBASE_c.1155_1183del29 protEffect p.P387fs RettBASE_c.1155_1183del29 phenoCommon Rett syndrome - not certain RettBASE_c.1156_1200del45 protEffect p.L386_T400del RettBASE_c.1156_1200del45 phenoCommon Rett syndrome - Not certain RettBASE_c.1156_1172del17 protEffect p.L386X RettBASE_c.1156_1172del17 phenoCommon Rett syndrome - Classical RettBASE_c.1156_1197del42 protEffect p.L386_P399del RettBASE_c.1156_1197del42 phenoCommon Rett syndrome - not certain RettBASE_c.1156_1157dupCT protEffect p.P387fs RettBASE_c.1156_1157dupCT phenoCommon Rett syndrome - not certain RettBASE_c.1157_1200del44 protEffect p.L386fs RettBASE_c.1157_1200del44 phenoCommon Rett syndrome - Not certain RettBASE_c.1157_1187del31 protEffect p.L386fs RettBASE_c.1157_1187del31 phenoCommon Rett syndrome - Not certain RettBASE_c.1157_1188del32 protEffect p.L386fs RettBASE_c.1157_1188del32 phenoCommon Rett syndrome - Preserved speech RettBASE_c.1157_1191del35 protEffect p.L386fs RettBASE_c.1157_1192del36 protEffect p.L386_D398delinsH RettBASE_c.1157_1199del43 protEffect p.L386fs RettBASE_c.1157_1199del43 phenoCommon Rett syndrome - not certain RettBASE_c.1157_*944del1249 protEffect p.L386fs RettBASE_c.1157_*944del1249 phenoCommon Rett syndrome - not certain RettBASE_c.1158_1200del43 protEffect p.P387fs RettBASE_c.1158_1200del43 phenoCommon Rett syndrome - Not certain RettBASE_c.1158_1186del29 protEffect p.P387fs RettBASE_c.1158_1186del29 phenoCommon Rett syndrome - Preserved speech RettBASE_c.1158_1198del41 protEffect p.P387fs RettBASE_c.1158_1198del41 phenoCommon Rett syndrome - not certain RettBASE_c.1158_1186del29insCCA protEffect p.P387HfsX9 RettBASE_c.1158_1186del29insCCA phenoCommon Rett syndrome - not certain RettBASE_c.1158_1201del44 protEffect p.P389X RettBASE_c.1158_1201del44 phenoCommon Not Rett synd. - unaffected family member RettBASE_c.1159_1201del43 protEffect p.P387fs RettBASE_c.1159_1201del43 phenoCommon Rett syndrome - Not certain RettBASE_c.1159_1210del52 protEffect p.P387fs RettBASE_c.1159_1210del52 phenoCommon Not Rett synd. - Angelman syndrome RettBASE_c.1159_1193del35 protEffect p.P388fs RettBASE_c.1159_1193del35 phenoCommon Rett syndrome - not certain RettBASE_c.1159_1458del300 protEffect p.P387X RettBASE_c.1159_1458del300 phenoCommon Rett syndrome - not certain RettBASE_c.1159_1160ins300 protEffect p.P387_P388ins100 RettBASE_c.1159_1160ins300 phenoCommon Rett syndrome - not certain RettBASE_c.1159_1160delCCinsT protEffect p.P387fs RettBASE_c.1159_1160delCCinsT phenoCommon Not Rett synd. - mental retardation RettBASE_c.1160_1185del26 protEffect p.P387fs RettBASE_c.1160_1185del26 phenoCommon Rett syndrome - Not certain RettBASE_c.1160_1200del41 protEffect p.P387fs RettBASE_c.1160_1200del41 phenoCommon Rett syndrome - Classical RettBASE_c.1160C>T protEffect p.P387L RettBASE_c.1160C>T phenoCommon Not Rett synd. - X-linked mental retardation RettBASE_c.1160_1188del29 protEffect p.P387fs RettBASE_c.1160_1188del29 phenoCommon Rett syndrome - Classical RettBASE_c.1160_1180del21 protEffect p.P387_E394delinsQ RettBASE_c.1160_1180del21 phenoCommon Rett syndrome - classical RettBASE_c.1160_1166del7 protEffect p.P387fs RettBASE_c.1160_1166del7 phenoCommon Rett syndrome - not certain RettBASE_c.1161_1400del240 protEffect p.P388_P467del RettBASE_c.1161_1400del240 phenoCommon Not Rett synd. - Unaffected family member RettBASE_c.1161_1205del45insA protEffect p.P387fs RettBASE_c.1161_1205del45insA phenoCommon Rett syndrome - Not certain RettBASE_c.1162C>T protEffect p.P388S RettBASE_c.1162C>T phenoCommon Rett syndrome - Classical RettBASE_c.1162_1163delinsTA protEffect p.P388X RettBASE_c.1162_1163delinsTA phenoCommon Not Rett synd. - sporadic mental retardation RettBASE_c.1162_1191del30 protEffect p.P388_E397del RettBASE_c.1162_1191del30 phenoCommon Rett syndrome - classical RettBASE_c.1162_1163delCC protEffect p.P388fs RettBASE_c.1163_1197del35 protEffect p.P388fs RettBASE_c.1163_1197del35 phenoCommon Rett syndrome - Not certain RettBASE_c.1163_1188del26 protEffect p.P388fs RettBASE_c.1163_1188del26 phenoCommon Rett syndrome - Classical RettBASE_c.1163_1216del54 protEffect p.P388_P405del RettBASE_c.1163_1216del54 phenoCommon Rett syndrome - Not certain RettBASE_c.1163_*39del338 protEffect p.P388fs RettBASE_c.1163_*39del338 phenoCommon Rett syndrome - Not certain RettBASE_c.1163_1179del17 protEffect p.P388fs RettBASE_c.1163C>T protEffect p.P388L RettBASE_c.1163C>T phenoCommon Rett syndrome - Forme fruste RettBASE_c.1163_1201del39 protEffect p.P388_S401delinsR RettBASE_c.1163_1201del39 phenoCommon Not Rett synd. - seizures, no speech RettBASE_c.1164_1206del43 protEffect p.P388fs RettBASE_c.1164_1206del43 phenoCommon Rett syndrome - Not certain RettBASE_c.1164_1172del9 protEffect p.P389_P391del RettBASE_c.1164_1172del9 phenoCommon Rett syndrome - Not certain RettBASE_c.1164_1208del45 protEffect p.P389_P403del RettBASE_c.1164_1208del45 phenoCommon Rett syndrome - Not certain RettBASE_c.1164delA protEffect p.P389fs RettBASE_c.1164delA phenoCommon Rett syndrome - not certain RettBASE_c.1165_1233del69ins21 protEffect p.P389_P411del23ins7 RettBASE_c.1165_1233del69ins21 phenoCommon Rett syndrome - Classical RettBASE_c.1165_1190del26 protEffect p.P389fs RettBASE_c.1165_1190del26 phenoCommon Rett syndrome - Classical RettBASE_c.1168_1173del6 protEffect p.P390_P391del RettBASE_c.1168_1173del6 phenoCommon Rett syndrome - Not certain RettBASE_p.P390fs protEffect p.P390fs RettBASE_p.P390fs phenoCommon Rett syndrome - not certain RettBASE_c.1169-?_1170+?del protEffect p.? RettBASE_c.1169-?_1170+?del phenoCommon Rett syndrome - classical RettBASE_c.1169-?_1397+?del protEffect p.? RettBASE_c.1169-?_1397+?del phenoCommon Rett syndrome - classical RettBASE_c.1170_1207del38 protEffect p.P391X RettBASE_c.1176G>A protEffect p.E392E RettBASE_c.1176G>A phenoCommon Rett syndrome - Classical RettBASE_c.1189G>T protEffect p.E397X RettBASE_c.1189G>T phenoCommon Rett syndrome - not certain RettBASE_c.1190dupA protEffect p.D398fs RettBASE_c.1190dupA phenoCommon Rett syndrome - classical RettBASE_c.1194_1195insT protEffect p.P399fs RettBASE_c.1194_1195insT phenoCommon Rett syndrome - Classical RettBASE_c.1196C>T protEffect p.P399L RettBASE_c.1196C>T phenoCommon Not Rett synd. - X-linked mental retardation RettBASE_c.1196_1266del71 protEffect p.P399fs RettBASE_c.1196_1266del71 phenoCommon Rett syndrome - not certain RettBASE_CDKL5:c.1196A>C commonName CDKL5: c.1196A>C RettBASE_CDKL5:c.1196A>C phenoCommon Rett syndrome - early-onset seizures RettBASE_c.1197C>T protEffect p.P399P RettBASE_c.1197C>T phenoCommon Rett syndrome - Not certain RettBASE_c.1197dupC protEffect p.T400fs RettBASE_c.1197dupC phenoCommon Rett syndrome - classical RettBASE_c.1200dupC protEffect p.S401fs RettBASE_c.1200dupC phenoCommon Rett syndrome - Classical RettBASE_FOXG1:c.1200C>G commonName FOXG1: c.1200C>G RettBASE_FOXG1:c.1200C>G phenoCommon Rett syndrome - classical RettBASE_c.1202dupG protEffect p.S401fs RettBASE_c.1202dupG phenoCommon Rett syndrome - not certain RettBASE_c.1205C>T protEffect p.P402L RettBASE_c.1205C>T phenoCommon Not Rett synd. - autism only RettBASE_c.1206C>T protEffect p.P402P RettBASE_c.1206C>T phenoCommon Not Rett synd. - Sporadic mental retardation RettBASE_c.1214C>T protEffect p.P405L RettBASE_c.1214C>T phenoCommon Not Rett synd. - mental retardation and autism combined RettBASE_c.1214_1230del17 protEffect p.P405fs RettBASE_c.1215C>T protEffect p.P405P RettBASE_c.1215C>T phenoCommon Not Rett synd. - not certain RettBASE_c.1216C>T protEffect p.Q406X RettBASE_c.1216C>T phenoCommon Not Rett synd. - X-linked mental retardation RettBASE_c.1223_1265del43 protEffect p.L408fs RettBASE_c.1223_1265del43 phenoCommon Rett syndrome - Atypical RettBASE_c.1229G>A protEffect p.S410N RettBASE_c.1229G>A phenoCommon Rett syndrome - Classical RettBASE_c.1234G>A protEffect p.V412I RettBASE_c.1234G>A phenoCommon Rett syndrome - Not certain RettBASE_c.1235_1260del26 protEffect p.V412fs RettBASE_c.1235_1260del26 phenoCommon Rett syndrome - Not certain RettBASE_CDKL5:c.1238C>G commonName CDKL5: c.1238C>G RettBASE_CDKL5:c.1238C>G phenoCommon Not Rett synd. - epileptic encephalopathy RettBASE_c.1239C>T protEffect p.C413C RettBASE_c.1250A>T protEffect p.K417M RettBASE_c.1250A>T phenoCommon Not Rett synd. - progressive encephalopathy of neonatal onset RettBASE_c.1265_1289del25insAGCGGCCG protEffect p.G422fs RettBASE_c.1265_1289del25insAGCGGCCG phenoCommon Rett syndrome - Not certain RettBASE_c.1266C>T protEffect p.G422G RettBASE_c.1266C>T phenoCommon Rett syndrome - Not certain RettBASE_c.1271_1416del146 protEffect p.L424fs RettBASE_c.1276_1461*113del299ins3 protEffect p.S426fs RettBASE_c.1278C>T protEffect p.S426S RettBASE_c.1278C>T phenoCommon Rett syndrome - atypical RettBASE_CDKL5:c.1278A>C commonName CDKL5: c.1278A>C RettBASE_CDKL5:c.1278A>C phenoCommon Not Rett synd. - autism spectrum disorder RettBASE_c.1282G>A protEffect p.G428S RettBASE_c.1282G>A phenoCommon Not Rett synd. - Non-progressive encephalopathy of neonatal onset RettBASE_c.1284C>T protEffect p.G428G RettBASE_c.1284C>T phenoCommon Rett syndrome - classical RettBASE_c.1288C>T protEffect p.P430S RettBASE_c.1288C>T phenoCommon Rett syndrome - male variant RettBASE_c.1308_1309delTC protEffect p.Q437fs RettBASE_c.1308_1309delTC phenoCommon Rett syndrome - Not certain RettBASE_CDKL5:c.1311dupC commonName CDKL5: c.1311dupC RettBASE_CDKL5:c.1311dupC phenoCommon Rett syndrome - atypical RettBASE_c.1315G>A protEffect p.A439T RettBASE_c.1315G>A phenoCommon Not Rett synd. - autism only RettBASE_c.1320dupT protEffect p.A441fs RettBASE_c.1320dupT phenoCommon Rett syndrome - atypical RettBASE_c.1324_1364del41 protEffect p.T442fs RettBASE_c.1324A>G protEffect p.T442A RettBASE_c.1330G>A protEffect p.A444T RettBASE_c.1330G>A phenoCommon Rett syndrome - Not certain RettBASE_c.1330_1342del13 protEffect p.A444fs RettBASE_CDKL5:c.1330C>T commonName CDKL5: c.1330C>T RettBASE_c.1339G>A protEffect p.A447T RettBASE_c.1339G>A phenoCommon Rett syndrome - not certain RettBASE_c.1340C>T protEffect p.A447V RettBASE_c.1340C>T phenoCommon Rett syndrome - Not certain RettBASE_c.1357C>T protEffect p.R453X RettBASE_c.1357C>T phenoCommon Rett syndrome - Preserved speech RettBASE_c.1358G>A protEffect p.R453Q RettBASE_c.1358G>A phenoCommon Not Rett synd. - X-linked mental retardation RettBASE_c.1364_1365insC protEffect p.E455fs RettBASE_c.1364_1365insC phenoCommon Rett syndrome - Congenital onset RettBASE_c.1372C>T protEffect p.R458C RettBASE_CDKL5:c.1382A>G commonName CDKL5: c.1382A>G RettBASE_CDKL5:c.1382A>G phenoCommon Not Rett synd. - autism spectrum disorder RettBASE_c.1396-?_1397+?del protEffect p.? RettBASE_c.1396-?_1397+?del phenoCommon Rett syndrome - classical RettBASE_CDKL5:c.1400A>C commonName CDKL5: c.1400A>C RettBASE_CDKL5:c.1400A>C phenoCommon Not Rett synd. - epileptic encephalopathy RettBASE_c.1403_1408del6 protEffect p.R468_P469del RettBASE_c.1403_1408del6 phenoCommon Rett syndrome - Classical RettBASE_c.1404G>A protEffect p.R468R RettBASE_c.1415_1416delAG protEffect p.E472fs RettBASE_c.1415_1416delAG phenoCommon Not Rett synd. - X-linked mental retardation RettBASE_c.1436C>T protEffect p.T479M RettBASE_c.1436C>T phenoCommon Rett syndrome - NK RettBASE_c.1438C>T protEffect p.P480S RettBASE_c.1438C>T phenoCommon Not Rett synd. - mental retardation RettBASE_c.1441G>A protEffect p.V481M RettBASE_c.1441G>A phenoCommon Rett syndrome - Not certain RettBASE_c.1446C>T protEffect p.T482T RettBASE_c.1446C>T phenoCommon Rett syndrome - Not certain RettBASE_c.1450_*12del24 protEffect p.V485_S486delins21 RettBASE_c.1450_*12del24 phenoCommon Rett syndrome - Atypical RettBASE_c.1450_1453delAGAG protEffect p.R484fs RettBASE_c.1450_1453delAGAG phenoCommon Rett syndrome - classical RettBASE_c.1452_1453dup protEffect p.V485fs RettBASE_c.1452_1453dup phenoCommon Rett syndrome - classical RettBASE_c.1454_1457del4 protEffect p.V485fs RettBASE_c.1454_1457del4 phenoCommon Rett syndrome - Not certain RettBASE_c.1455_1456dupTA protEffect p.S486fs RettBASE_c.1455_1456dupTA phenoCommon Rett syndrome - classical RettBASE_c.1461A>C protEffect p.X487CextX27 RettBASE_c.1461A>C phenoCommon Rett syndrome - Classical RettBASE_c.1461A>G protEffect p.X487WextX27 RettBASE_CDKL5:c.1523T>C commonName CDKL5: c.1523T>C RettBASE_CDKL5:c.1523T>C phenoCommon Not Rett synd. - autism spectrum disorder RettBASE_CDKL5:c.1648C>T commonName CDKL5: c.1648C>T RettBASE_CDKL5:c.1648C>T phenoCommon Rett syndrome - early-onset seizure RettBASE_CDKL5:c.1675C>T commonName CDKL5:c.1675C>T RettBASE_CDKL5:c.1708G>T commonName CDKL5: c.1708G>T RettBASE_CDKL5:c.1708G>T phenoCommon Rett syndrome - early seizure RettBASE_CDKL5:c.1767C>T commonName CDKL5: c.1767C>T RettBASE_CDKL5:c.1767C>T phenoCommon Not known - infantile intractable epilepsy RettBASE_CDKL5:c.1892_1893dupTA commonName CDKL5: c.1892_1893dupTA RettBASE_CDKL5:c.1892_1893dupTA phenoCommon Rett syndrome - atypical RettBASE_CDKL5:c.1892T>C commonName CDKL5: c.1892T>C RettBASE_CDKL5:c.1892T>C phenoCommon Not Rett synd. - early-onset encephalopathy RettBASE_CDKL5:c.1954C>T commonName CDKL5:c.1954C>T RettBASE_CDKL5:c.2016delC commonName CDKL5: c.2016delC RettBASE_CDKL5:c.2016delC phenoCommon Not Rett synd. - ISSX RettBASE_CDKL5:c.2016dupC commonName CDKL5: c.2016dupC RettBASE_CDKL5:c.2016dupC phenoCommon Not Rett synd. - epileptic encephalopathy RettBASE_CDKL5:c.2045_2046delAGins18 commonName CDKL5: c.2045_2046delAGins18 RettBASE_CDKL5:c.2045_2046delAGins18 phenoCommon Rett syndrome - atypical RettBASE_CDKL5:c.2046+79G>A commonName CDKL5: c.2046+79G>A RettBASE_CDKL5:c.2047-1G>A commonName CDKL5: c.2047-1G>A RettBASE_CDKL5:c.2047-1G>A phenoCommon Rett syndrome - Atypical RettBASE_CDKL5:c.2066delC commonName CDKL5: c.2066delC RettBASE_CDKL5:c.2066delC phenoCommon Not Rett synd. - early onset epileptic encephalopathy RettBASE_CDKL5:c.2152+48C>T commonName CDKL5: c.2152+48C>T RettBASE_CDKL5:c.2152G>A commonName CDKL5: c.2152G>A RettBASE_CDKL5:c.2152G>A phenoCommon Not Rett synd. - ISSX RettBASE_CDKL5:c.2325_2326delGA commonName CDKL5: c.2325_2326delGA RettBASE_CDKL5:c.2325_2326delGA phenoCommon Not Rett synd. - ISSX RettBASE_CDKL5:c.2343delG commonName CDKL5: c.2343delG RettBASE_CDKL5:c.2343delG phenoCommon Rett syndrome - atypical RettBASE_CDKL5:c.2363_2367delAGAAA commonName CDKL5: c.2363_2367delAGAAA RettBASE_CDKL5:c.2363_2367delAGAAA phenoCommon Not Rett synd. - X-linked West syndrome/autism RettBASE_CDKL5:c.2372A>C commonName CDKL5: c.2372A>C RettBASE_CDKL5:c.2372A>C phenoCommon Rett syndrome - Not certain RettBASE_CDKL5:c.2376+1G>C commonName CDKL5: c.2376+1G>C RettBASE_CDKL5:c.2376+1G>C phenoCommon Not Rett synd. - ISSX RettBASE_CDKL5:c.2376+118T>A commonName CDKL5: c.2376+118T>A RettBASE_CDKL5:c.2376+1G>A commonName CDKL5: c.2376+1G>A RettBASE_CDKL5:c.2376+1G>A phenoCommon Not Rett synd. - epileptic encephalopathy RettBASE_CDKL5:c.2376+5G>A commonName CDKL5: c.2376+5G>A RettBASE_CDKL5:c.2376+5G>A phenoCommon Rett syndrome - not specified RettBASE_CDKL5:c.2377-31T>C commonName CDKL5: c.2377-31T>C RettBASE_CDKL5:c.2377-31T>C phenoCommon Not Rett synd. - epileptic encephalopathy RettBASE_CDKL5:c.2378T>C commonName CDKL5: c.2378T>C RettBASE_CDKL5:c.2378T>C phenoCommon Not Rett synd. - not certain RettBASE_CDKL5:c.2413C>T commonName CDKL5:c.2413C>T RettBASE_CDKL5:c.2500C>T commonName CDKL5: c.2500C>T RettBASE_CDKL5:c.2500C>T phenoCommon Rett syndrome - atypical RettBASE_CDKL5:c.2504delC commonName CDKL5: c.2504delC RettBASE_CDKL5:c.2504delC phenoCommon Not Rett synd. - epileptic encephalopathy RettBASE_CDKL5:c.2529delA commonName CDKL5: c.2529delA RettBASE_CDKL5:c.2529delA phenoCommon Not Rett synd. - early-onset seizures and mental retardation RettBASE_CDKL5:c.2572delC commonName CDKL5:c.2572delC RettBASE_CDKL5:c.2593C>T commonName CDKL5:c.2593C>T RettBASE_CDKL5:c.2635_2636delCT commonName CDKL5: c.2635_2636delCT RettBASE_CDKL5:c.2635_2636delCT phenoCommon Rett syndrome - early seizure RettBASE_CDKL5:c.2767C>T commonName CDKL5: c.2767C>T RettBASE_CDKL5:c.2854C>T commonName CDKL5: c.2854C>T RettBASE_CDKL5:c.2854C>T phenoCommon Not known - infantile intractable epilepsy RettBASE_CDKL5:c.2908C>T commonName CDKL5: c.2908C>T RettBASE_CDKL5:c.2908C>T phenoCommon Rett syndrome - atypical RettBASE_CDKL5:c.2984T>G commonName CDKL5: c.2984T>G RettBASE_CDKL5:c.2984T>G phenoCommon Not Rett synd. - schizophrenia RettBASE_CDKL5:c.2995G>A commonName CDKL5: c.2995G>A RettBASE_CDKL5:c.2995G>A phenoCommon Not known - infantile intractable epilepsy RettBASE_CDKL5:c.3003C>T commonName CDKL5: c.3003C>T RettBASE_CDKL5:c.3003C>T phenoCommon Not Rett synd. - autism spectrum disorder or schizophrenia RettBASE_CDKL5:c.3012G>T commonName CDKL5: c.3012G>T RettBASE_CDKL5:c.3012G>T phenoCommon Not Rett synd. - autism spectrum disorder RettBASE_CDKL5:c.3084G>A commonName CDKL5: c.3084G>A RettBASE_CDKL5:c.3084G>A phenoCommon Not Rett synd. - autism spectrum disorder or schizophrenia HbVar.1 protEffect HBA2 or HBA1 2(NA1) Val>Gly HbVar.1 commonName Hb Antananarivo HbVar.1 ethnic Madagascar HbVar.1 phenoCommon Hemoglobin variant HbVar.2 protEffect HBA2 or HBA1 3(NA2) Leu>Arg HbVar.2 commonName Hb Chongqing HbVar.2 ethnic Chinese HbVar.2 phenoCommon Hemoglobin variant HbVar.3 protEffect HBA2 or HBA1 6(A3) Ala>Asp HbVar.3 commonName Hb J-Toronto HbVar.3 ethnic English HbVar.3 phenoCommon Hemoglobin variant HbVar.4 protEffect HBA2 or HBA1 6(A3) Ala>Pro HbVar.4 commonName Hb Karachi HbVar.4 ethnic Pakistani HbVar.4 phenoCommon Hemoglobin variant HbVar.5 protEffect HBA2 or HBA1 7(A4) Asp>Ala HbVar.5 commonName Hb Sawara HbVar.5 ethnic Japanese HbVar.5 phenoCommon Hemoglobin variant HbVar.6 protEffect HBA2 or HBA1 7(A4) Asp>Asn HbVar.6 commonName Hb Dunn HbVar.6 ethnic Black HbVar.6 ethnic Indian HbVar.6 ethnic Moroccan HbVar.6 phenoCommon Hemoglobin variant HbVar.7 protEffect HBA2 or HBA1 7(A4) Asp>Val HbVar.7 commonName Hb Ferndown HbVar.7 ethnic English HbVar.7 phenoCommon Hemoglobin variant HbVar.8 protEffect HBA2 or HBA1 7(A4) Asp>Tyr HbVar.8 commonName Hb Woodville HbVar.8 ethnic Vietnamese HbVar.8 phenoCommon Hemoglobin variant HbVar.9 protEffect HBA2 or HBA1 7(A4) Asp>Gly HbVar.9 commonName Hb Swan River HbVar.9 ethnic Yugoslavian HbVar.9 ethnic Caucasian HbVar.9 ethnic Japanese HbVar.9 phenoCommon Hemoglobin variant HbVar.10 protEffect HBA2 or HBA1 8(A5) Lys>Asn HbVar.10 commonName Hb Tatras HbVar.10 ethnic Czech HbVar.10 phenoCommon Hemoglobin variant HbVar.11 protEffect HBA2 or HBA1 8(A5) Lys>Glu HbVar.11 commonName Hb Kurosaki HbVar.11 ethnic Japanese HbVar.11 phenoCommon Hemoglobin variant HbVar.12 protEffect HBA2 or HBA1 12(A9) Lys>Glu HbVar.12 commonName Hb Anantharaj HbVar.12 phenoCommon Hemoglobin variant HbVar.13 protEffect HBA2 or HBA1 12(A9) Lys>Gln HbVar.13 commonName Hb J-Wenchang-Wuming HbVar.13 ethnic Chinese HbVar.13 phenoCommon Hemoglobin variant HbVar.14 protEffect HBA2 or HBA1 12(A9) Lys>Asn HbVar.14 commonName Hb Albany-Suma HbVar.14 ethnic Black HbVar.14 phenoCommon Hemoglobin variant HbVar.15 protEffect HBA2 or HBA1 13(A10) Ala>Asp HbVar.15 commonName Hb J-Paris-I HbVar.15 alias Hb J-Aljezur HbVar.15 ethnic Spanish HbVar.15 ethnic Portuguese HbVar.15 ethnic Iranian HbVar.15 ethnic Yugoslavian HbVar.15 ethnic Punjabi HbVar.15 phenoCommon Hemoglobin variant HbVar.16 protEffect HBA2 or HBA1 15(A12) Trp>Arg HbVar.16 commonName Hb Evanston HbVar.16 alias Codon 14 (T->A); TGG->AGG on an alpha-thal-2 chromosome [-alpha(Ev)] alpha-Thal-1 HbVar.16 ethnic Black HbVar.16 phenoCommon Thalassemia HbVar.17 protEffect HBA1 16(A13) Gly>Asp HbVar.17 commonName Hb I-Interlaken HbVar.17 alias Hb J-Oxford HbVar.17 alias Hb N-Cosenza HbVar.17 ethnic English HbVar.17 ethnic Italian HbVar.17 phenoCommon Hemoglobin variant HbVar.18 protEffect HBA2 or HBA1 16(A13) Gly>Arg HbVar.18 commonName Hb Ottawa HbVar.18 alias Hb Siam HbVar.18 ethnic Canadian HbVar.18 ethnic Chinese HbVar.18 ethnic Polish HbVar.18 phenoCommon Hemoglobin variant HbVar.19 protEffect HBA2 17(A14) Lys>Glu HbVar.19 commonName Hb I HbVar.19 alias Hb I-Philadelphia HbVar.19 alias Hb I-Texas HbVar.19 alias Hb I-Burlington HbVar.19 alias Hb I-Skamania HbVar.19 ethnic Australian HbVar.19 ethnic Black HbVar.19 ethnic Caucasian HbVar.19 ethnic Indian HbVar.19 ethnic Japanese HbVar.19 phenoCommon Hemoglobin variant HbVar.20 protEffect HBA2 or HBA1 17(A14) Lys>Asn HbVar.20 commonName Hb Beijing HbVar.20 ethnic Chinese HbVar.20 phenoCommon Hemoglobin variant HbVar.21 protEffect HBA2 or HBA1 17(A14) Lys>Met HbVar.21 commonName Hb Harbin HbVar.21 ethnic Chinese HbVar.21 phenoCommon Hemoglobin variant HbVar.22 protEffect HBA2 or HBA1 19(A16) Gly>Arg HbVar.22 commonName Hb Handsworth HbVar.22 ethnic Indian HbVar.22 ethnic Chinese HbVar.22 ethnic Saudi Arabian HbVar.22 phenoCommon Hemoglobin variant HbVar.23 protEffect HBA2 or HBA1 19(A16) Gly>Asp HbVar.23 commonName Hb Al-Ain Abu Dhabi HbVar.23 ethnic United Arab Emirates HbVar.23 phenoCommon Hemoglobin variant HbVar.24 protEffect HBA2 or HBA1 20(AB1) Ala>Asp HbVar.24 commonName Hb J-Kurosh HbVar.24 ethnic Iranian HbVar.24 phenoCommon Hemoglobin variant HbVar.25 protEffect HBA2 or HBA1 20(AB1) Ala>Glu HbVar.25 commonName Hb J-Tashikuergan HbVar.25 ethnic Tajike HbVar.25 ethnic Afghan HbVar.25 phenoCommon Hemoglobin variant HbVar.26 protEffect HBA2 or HBA1 21(B1) His>Tyr HbVar.26 commonName Hb Necker Enfants-Malades HbVar.26 ethnic French West Indies HbVar.26 phenoCommon Hemoglobin variant HbVar.27 protEffect HBA2 21(B1) His>Gln HbVar.27 commonName Hb Le Lamentin HbVar.27 ethnic English HbVar.27 ethnic French West Indies HbVar.27 ethnic Japanese HbVar.27 ethnic Spanish HbVar.27 phenoCommon Hemoglobin variant HbVar.28 protEffect HBA2 or HBA1 21(B1) His>Arg HbVar.28 commonName Hb Hobart HbVar.28 ethnic English HbVar.28 phenoCommon Hemoglobin variant HbVar.29 protEffect HBA2 or HBA1 22(B2) Ala>Asp HbVar.29 commonName Hb J-Nyanza HbVar.29 ethnic Western Kenyan HbVar.29 phenoCommon Hemoglobin variant HbVar.30 protEffect HBA2 or HBA1 22(B2) Ala>Pro HbVar.30 commonName Hb Fontainebleau HbVar.30 ethnic Italian HbVar.30 phenoCommon Hemoglobin variant HbVar.31 protEffect HBA2 or HBA1 23(B3) Gly>Asp HbVar.31 commonName Hb J-Medellin HbVar.31 ethnic Colombian HbVar.31 phenoCommon Hemoglobin variant HbVar.32 protEffect HBA2 or HBA1 24(B4) Glu>Gln HbVar.32 commonName Hb Memphis HbVar.32 ethnic Black HbVar.32 phenoCommon Hemoglobin variant HbVar.33 protEffect HBA2 or HBA1 24(B4) Glu>Lys HbVar.33 commonName Hb Chad HbVar.33 alias Hb E-Keelung HbVar.33 ethnic Black HbVar.33 ethnic Chinese HbVar.33 ethnic Japanese HbVar.33 phenoCommon Hemoglobin variant HbVar.34 protEffect HBA2 or HBA1 24(B4) Glu>Val HbVar.34 commonName Hb G-Audhali HbVar.34 ethnic Black HbVar.34 phenoCommon Hemoglobin variant HbVar.35 protEffect HBA2 or HBA1 24(B4) Glu>Gly HbVar.35 commonName Hb Reims HbVar.35 ethnic French HbVar.35 phenoCommon Hemoglobin variant HbVar.36 protEffect HBA2 or HBA1 24(B4) Glu>Asp HbVar.36 commonName Hb Lisbon HbVar.36 ethnic Portuguese HbVar.36 phenoCommon Hemoglobin variant HbVar.37 protEffect HBA2 or HBA1 25(B5) Tyr>His HbVar.37 commonName Hb Luxembourg HbVar.37 ethnic Dutch HbVar.37 phenoCommon Hemoglobin variant HbVar.38 protEffect HBA1 25(B5) Tyr>Cys HbVar.38 commonName Hb Ramona HbVar.38 ethnic Spanish HbVar.38 phenoCommon Hemoglobin variant HbVar.39 protEffect HBA2 or HBA1 27(B7) Ala>Glu HbVar.39 commonName Hb Shenyang HbVar.39 ethnic Chinese HbVar.39 phenoCommon Hemoglobin variant HbVar.40 protEffect HBA2 27(B7) Ala>Thr HbVar.40 commonName Hb Caserta HbVar.40 ethnic Italian HbVar.40 phenoCommon Hemoglobin variant HbVar.41 protEffect HBA2 or HBA1 28(B8) Glu>Gly HbVar.41 commonName Hb Fort Worth HbVar.41 ethnic Black HbVar.41 phenoCommon Hemoglobin variant HbVar.42 protEffect HBA2 or HBA1 28(B8) Glu>Val HbVar.42 commonName Hb Spanish Town HbVar.42 ethnic Jamaican HbVar.42 phenoCommon Hemoglobin variant HbVar.43 protEffect HBA2 or HBA1 28(B8) Glu>Lys HbVar.43 commonName Hb Shuangfeng HbVar.43 ethnic Chinese HbVar.43 phenoCommon Hemoglobin variant HbVar.44 protEffect HBA2 28(B8) Glu>Asp HbVar.44 commonName Hb Hekinan HbVar.44 ethnic Black HbVar.44 ethnic Chinese HbVar.44 ethnic Japanese HbVar.44 ethnic Thai HbVar.44 phenoCommon Hemoglobin variant HbVar.45 protEffect HBA2 30(B10) Leu>Pro HbVar.45 commonName Hb Agrinio HbVar.45 alias Codon 29 CTG->CCG of the alpha2 gene alpha-Thal-2 HbVar.45 ethnic Greek Cypriot HbVar.45 phenoCommon Thalassemia HbVar.46 protEffect HBA2 or HBA1 31(B11) Glu>Lys HbVar.46 commonName Hb O-Padova HbVar.46 ethnic Italian HbVar.46 ethnic Turkish HbVar.46 phenoCommon Hemoglobin variant HbVar.47 protEffect HBA2 or HBA1 31(B11) Glu>Gln HbVar.47 commonName Hb G-Honolulu HbVar.47 alias Hb G-Singapore HbVar.47 alias Hb G-Chinese HbVar.47 alias Hb G-Hong Kong HbVar.47 ethnic Chinese HbVar.47 phenoCommon Hemoglobin variant HbVar.48 protEffect HBA2 or HBA1 32(B12) Arg>Ser HbVar.48 commonName Hb Prato HbVar.48 ethnic Italian HbVar.48 ethnic Taiwanese HbVar.48 phenoCommon Hemoglobin variant HbVar.49 protEffect HBA2 or HBA1 35(B15) Leu>Arg HbVar.49 commonName Hb Queens HbVar.49 alias Hb Ogi HbVar.49 ethnic Chinese HbVar.49 ethnic Japanese HbVar.49 ethnic Korean HbVar.49 ethnic Thai HbVar.49 ethnic Vietnamese HbVar.49 phenoCommon Hemoglobin variant HbVar.50 protEffect HBA2 36(B16) Ser>Tyr HbVar.50 commonName Hb Shinagawa HbVar.50 ethnic Japanese HbVar.50 phenoCommon Hemoglobin variant HbVar.51 protEffect HBA2 or HBA1 38(C2) Pro>Arg HbVar.51 commonName Hb Boumerdes HbVar.51 ethnic African-American HbVar.51 ethnic Algerian HbVar.51 phenoCommon Hemoglobin variant HbVar.52 protEffect HBA2 or HBA1 41(C5) Lys>Glu HbVar.52 commonName Hb Kariya HbVar.52 ethnic Japanese HbVar.52 ethnic Caucasian HbVar.52 phenoCommon Hemoglobin variant HbVar.53 protEffect HBA2 41(C5) Lys>Met HbVar.53 commonName Hb Kanagawa HbVar.53 ethnic Japanese HbVar.53 phenoCommon Hemoglobin variant HbVar.54 protEffect HBA2 or HBA1 42(C6) Thr>Ser HbVar.54 commonName Hb Miyano HbVar.54 ethnic Japanese HbVar.54 phenoCommon Hemoglobin variant HbVar.55 protEffect HBA2 or HBA1 44(CE1) Phe>Val HbVar.55 commonName Hb Torino HbVar.55 ethnic Italian HbVar.55 ethnic Lebanese HbVar.55 phenoCommon Hemoglobin variant HbVar.56 protEffect HBA2 44(CE1) Phe>Leu HbVar.56 commonName Hb Hirosaki HbVar.56 ethnic Japanese HbVar.56 phenoCommon Hemoglobin variant HbVar.57 protEffect HBA2 or HBA1 45(CE2) Pro>Leu HbVar.57 commonName Hb Milledgeville HbVar.57 ethnic Black HbVar.57 phenoCommon Hemoglobin variant HbVar.58 protEffect HBA2 or HBA1 45(CE2) Pro>Arg HbVar.58 commonName Hb Kawachi HbVar.58 ethnic Japanese HbVar.58 phenoCommon Hemoglobin variant HbVar.59 protEffect HBA2 or HBA1 46(CE3) His>Arg HbVar.59 commonName Hb Fort de France HbVar.59 ethnic French West Indies HbVar.59 phenoCommon Hemoglobin variant HbVar.60 protEffect HBA2 or HBA1 46(CE3) His>Gln HbVar.60 commonName Hb Bari HbVar.60 ethnic Italian HbVar.60 phenoCommon Hemoglobin variant HbVar.61 protEffect HBA2 or HBA1 46(CE3) His>Asp HbVar.61 commonName Hb Poitiers HbVar.61 ethnic French HbVar.61 phenoCommon Hemoglobin variant HbVar.62 protEffect HBA2 46(CE3) His>Pro HbVar.62 commonName Hb Oita HbVar.62 ethnic Japanese HbVar.62 phenoCommon Hemoglobin variant HbVar.63 protEffect HBA2 or HBA1 46(CE3) His>Tyr HbVar.63 commonName Hb Matsudo HbVar.63 ethnic Asian HbVar.63 phenoCommon Hemoglobin variant HbVar.64 protEffect HBA2 or HBA1 48(CE5) Asp>Gly HbVar.64 commonName Hb Beilinson HbVar.64 alias Hb Umi HbVar.64 alias Hb Yukuhashi-II HbVar.64 alias Hb L-Gaslini HbVar.64 alias Hb Tagawa-II HbVar.64 alias Hb Kokura HbVar.64 alias Hb Mugino HbVar.64 ethnic Ashkenazi Jews HbVar.64 ethnic Japanese HbVar.64 ethnic United Arab Emirates HbVar.64 phenoCommon Hemoglobin variant HbVar.65 protEffect HBA2 48(CE5) Asp>His HbVar.65 commonName Hb Hasharon HbVar.65 alias Hb Sinai HbVar.65 alias Hb Sealy HbVar.65 alias Hb L-Ferrara HbVar.65 alias Hb Michigan-I HbVar.65 alias Hb Michigan-II HbVar.65 ethnic Ashkenazi Jews HbVar.65 ethnic Italian HbVar.65 phenoCommon Hemoglobin variant HbVar.66 protEffect HBA2 or HBA1 48(CE5) Asp>Asn HbVar.66 commonName Hb Arya HbVar.66 ethnic Iranian HbVar.66 phenoCommon Hemoglobin variant HbVar.67 protEffect HBA2 or HBA1 48(CE5) Asp>Ala HbVar.67 commonName Hb Cordele HbVar.67 ethnic Black HbVar.67 phenoCommon Hemoglobin variant HbVar.68 protEffect HBA2 48(CE5) Asp>Tyr HbVar.68 commonName Hb Kurdistan HbVar.68 ethnic Kurdish HbVar.68 phenoCommon Hemoglobin variant HbVar.69 protEffect HBA2 49(CE6) Leu>Arg HbVar.69 commonName Hb Montgomery HbVar.69 ethnic Black HbVar.69 ethnic Chinese HbVar.69 phenoCommon Hemoglobin variant HbVar.70 protEffect HBA2 50(CE7) Ser>Arg HbVar.70 commonName Hb Savaria HbVar.70 ethnic Hungarian HbVar.70 ethnic Yugoslavian HbVar.70 ethnic Kenyan HbVar.70 ethnic American HbVar.70 phenoCommon Hemoglobin variant HbVar.71 protEffect HBA2 51(CE8) His>Asp HbVar.71 commonName Hb J-Sardegna HbVar.71 ethnic Italian HbVar.71 ethnic Sardinian HbVar.71 phenoCommon Hemoglobin variant HbVar.72 protEffect HBA2 or HBA1 51(CE8) His>Arg HbVar.72 commonName Hb Aichi HbVar.72 ethnic Japanese HbVar.72 phenoCommon Hemoglobin variant HbVar.73 protEffect HBA2 or HBA1 51(CE8) His>Gln OR HBA1 or HBA2 51(CE8) His>Gln HbVar.73 commonName Hb Frankfurt HbVar.73 ethnic German HbVar.73 ethnic Italian HbVar.73 phenoCommon Hemoglobin variant HbVar.74 protEffect HBA2 or HBA1 52(CE9) Gly>Asp HbVar.74 commonName Hb J-Abidjan HbVar.74 ethnic Yacouba HbVar.74 ethnic Japanese HbVar.74 phenoCommon Hemoglobin variant HbVar.75 protEffect HBA2 or HBA1 52(CE9) Gly>Arg HbVar.75 commonName Hb Russ HbVar.75 ethnic Caucasian HbVar.75 ethnic Chinese HbVar.75 ethnic American HbVar.75 phenoCommon Hemoglobin variant HbVar.76 protEffect HBA2 or HBA1 54(E2) Ala>Asp HbVar.76 commonName Hb J-Rovigo HbVar.76 ethnic Italian HbVar.76 ethnic Brazilian HbVar.76 phenoCommon Hemoglobin variant HbVar.77 protEffect HBA2 or HBA1 55(E3) Gln>Arg HbVar.77 commonName Hb Shimonoseki HbVar.77 alias Hb Hikoshima HbVar.77 ethnic Japanese HbVar.77 phenoCommon Hemoglobin variant HbVar.78 protEffect HBA2 or HBA1 55(E3) Gln>Glu HbVar.78 commonName Hb Mexico HbVar.78 alias Hb J-Paris-II HbVar.78 alias Hb Uppsala HbVar.78 ethnic Mexican HbVar.78 ethnic Swedish HbVar.78 ethnic Algerian HbVar.78 ethnic Indian HbVar.78 ethnic Black HbVar.78 phenoCommon Hemoglobin variant HbVar.79 protEffect HBA2 or HBA1 57(E5) Lys>Thr HbVar.79 commonName Hb Thailand HbVar.79 ethnic Thai HbVar.79 phenoCommon Hemoglobin variant HbVar.80 protEffect HBA2 or HBA1 57(E5) Lys>Glu HbVar.80 commonName Hb Shaare Zedek HbVar.80 ethnic Jewish HbVar.80 phenoCommon Hemoglobin variant HbVar.81 protEffect HBA2 or HBA1 57(E5) Lys>Asn HbVar.81 commonName Hb Belliard HbVar.81 ethnic Spanish HbVar.81 phenoCommon Hemoglobin variant HbVar.82 protEffect HBA2 or HBA1 57(E5) Lys>Arg HbVar.82 commonName Hb Port Huron HbVar.82 ethnic African-American HbVar.82 phenoCommon Hemoglobin variant HbVar.83 protEffect HBA2 or HBA1 58(E6) Gly>Arg HbVar.83 commonName Hb L-Persian Gulf HbVar.83 ethnic Persian Gulf HbVar.83 phenoCommon Hemoglobin variant HbVar.84 protEffect HBA2 or HBA1 58(E6) Gly>Asp HbVar.84 commonName Hb J-Norfolk HbVar.84 alias Hb Kagoshima HbVar.84 alias Hb Nishik-I HbVar.84 alias Hb Nishik-II HbVar.84 alias Hb Nishik-III HbVar.84 ethnic English HbVar.84 ethnic Italian HbVar.84 ethnic Japanese HbVar.84 ethnic Nepali HbVar.84 phenoCommon Hemoglobin variant HbVar.85 protEffect HBA2 or HBA1 59(E7) His>Tyr HbVar.85 commonName Hb M-Boston HbVar.85 alias Hb M-Osaka HbVar.85 alias Hb M-Gothenburg HbVar.85 alias Hb M-Kiskunhalas HbVar.85 alias Hb M-Norin HbVar.85 ethnic German HbVar.85 ethnic Swedish HbVar.85 ethnic Dutch HbVar.85 ethnic Hungarian HbVar.85 ethnic Japanese HbVar.85 phenoCommon Hemoglobin variant HbVar.86 protEffect HBA2 or HBA1 60(E8) Gly>Val HbVar.86 commonName Hb Tottori HbVar.86 ethnic Japanese HbVar.86 phenoCommon Hemoglobin variant HbVar.87 protEffect HBA2 or HBA1 60(E8) Gly>Asp HbVar.87 commonName Hb Adana HbVar.87 alias Codon 59 (G->A) of the alpha1 gene; GGC->GAC alpha-Thal-2 HbVar.87 ethnic Turkish HbVar.87 phenoCommon alpha-2 thalassemia HbVar.88 protEffect HBA2 or HBA1 61(E9) Lys>Asn HbVar.88 commonName Hb Zambia HbVar.88 ethnic Zambian HbVar.88 phenoCommon Hemoglobin variant HbVar.89 protEffect HBA2 or HBA1 61(E9) Lys>Glu HbVar.89 commonName Hb Dagestan HbVar.89 ethnic Dagestan HbVar.89 phenoCommon Hemoglobin variant HbVar.90 protEffect HBA2 or HBA1 62(E10) Lys>Asn HbVar.90 commonName Hb J-Buda HbVar.90 ethnic Hungarian HbVar.90 phenoCommon Hemoglobin variant HbVar.91 protEffect HBA2 62(E10) Lys>Thr HbVar.91 commonName Hb J-Anatolia HbVar.91 ethnic Turkish HbVar.91 phenoCommon Hemoglobin variant HbVar.92 protEffect HBA2 or HBA1 62(E10) Lys>Glu HbVar.92 commonName Hb Miyagi HbVar.92 ethnic Japanese HbVar.92 phenoCommon Hemoglobin variant HbVar.93 protEffect HBA2 63(E11) Val>Met HbVar.93 commonName Hb Evans HbVar.93 ethnic Caucasian HbVar.93 phenoCommon Hemoglobin variant HbVar.94 protEffect HBA2 or HBA1 64(E12) Ala>Asp HbVar.94 commonName Hb Pontoise HbVar.94 alias Hb J-Pontoise HbVar.94 ethnic Spanish HbVar.94 phenoCommon Hemoglobin variant HbVar.95 protEffect HBA2 65(E13) Asp>Asn HbVar.95 commonName Hb G-Waimanalo HbVar.95 alias Hb Aida HbVar.95 ethnic Philippine HbVar.95 ethnic Indian HbVar.95 ethnic Rumanian HbVar.95 phenoCommon Hemoglobin variant HbVar.96 protEffect HBA2 or HBA1 65(E13) Asp>Tyr HbVar.96 commonName Hb Persepolis HbVar.96 ethnic Indian Sikh HbVar.96 phenoCommon Hemoglobin variant HbVar.97 protEffect HBA1 65(E13) Asp>His HbVar.97 commonName Hb Q-India HbVar.97 ethnic Hindu HbVar.97 ethnic French HbVar.97 ethnic Iranian HbVar.97 phenoCommon Hemoglobin variant HbVar.98 protEffect HBA2 or HBA1 65(E13) Asp>Gly HbVar.98 commonName Hb Guangzhou-Hangzhou HbVar.98 ethnic Chinese HbVar.98 phenoCommon Hemoglobin variant HbVar.99 protEffect HBA2 or HBA1 66(E14) Ala>Val HbVar.99 commonName Hb Bois Guillaume HbVar.99 ethnic French HbVar.99 phenoCommon Hemoglobin variant HbVar.100 protEffect HBA2 or HBA1 69(E17) Asn>Lys HbVar.100 commonName Hb G-Philadelphia HbVar.100 alias Hb G-Knoxville HbVar.100 alias Hb Stanleyville-I HbVar.100 alias Hb D-Washington HbVar.100 alias Hb D-St. Louis HbVar.100 alias Hb G-Bristol HbVar.100 alias Hb G-Azakouli HbVar.100 alias Hb D-Baltimore HbVar.100 ethnic Black HbVar.100 ethnic Italian HbVar.100 ethnic Chinese HbVar.100 phenoCommon Hemoglobin variant HbVar.101 protEffect HBA2 or HBA1 69(E17) Asn>Asp HbVar.101 commonName Hb Ube-2 HbVar.101 ethnic Japanese HbVar.101 ethnic Taiwanese HbVar.101 phenoCommon Hemoglobin variant HbVar.102 protEffect HBA2 or HBA1 72(E20) Ala>Glu HbVar.102 commonName Hb J-Habana HbVar.102 ethnic Cuban HbVar.102 ethnic Japanese HbVar.102 phenoCommon Hemoglobin variant HbVar.103 protEffect HBA2 or HBA1 72(E20) Ala>Val HbVar.103 commonName Hb Ozieri HbVar.103 ethnic Sardinian HbVar.103 phenoCommon Hemoglobin variant HbVar.104 protEffect HBA2 or HBA1 73(EF1) His>Arg HbVar.104 commonName Hb Daneshgah-Tehran HbVar.104 ethnic Iranian HbVar.104 ethnic Argentine HbVar.104 phenoCommon Hemoglobin variant HbVar.105 protEffect HBA2 73(EF1) His>Gln HbVar.105 commonName Hb Gouda HbVar.105 ethnic Dutch HbVar.105 phenoCommon Hemoglobin variant HbVar.106 protEffect HBA2 or HBA1 73(EF1) His>Tyr HbVar.106 commonName Hb Fuchu-I HbVar.106 alias Hb Tanashi HbVar.106 ethnic Japanese HbVar.106 phenoCommon Hemoglobin variant HbVar.107 protEffect HBA1 75(EF3) Asp>His HbVar.107 commonName Hb Q-Thailand HbVar.107 alias Hb G-Taichung HbVar.107 alias Hb Mahidol HbVar.107 alias Hb Kurashiki-I HbVar.107 alias Hb Asabara HbVar.107 ethnic Chinese HbVar.107 ethnic Thai HbVar.107 ethnic Japanese HbVar.107 phenoCommon Hemoglobin variant HbVar.108 protEffect HBA2 or HBA1 75(EF3) Asp>Ala HbVar.108 commonName Hb Lille HbVar.108 ethnic Algerian HbVar.108 phenoCommon Hemoglobin variant HbVar.109 protEffect HBA2 or HBA1 75(EF3) Asp>Asn HbVar.109 commonName Hb G-Pest HbVar.109 ethnic Hungarian HbVar.109 phenoCommon Hemoglobin variant HbVar.110 protEffect HBA1 75(EF3) Asp>Gly HbVar.110 commonName Hb Chapel Hill HbVar.110 ethnic Caucasian HbVar.110 ethnic Chinese HbVar.110 phenoCommon Hemoglobin variant HbVar.111 protEffect HBA2 or HBA1 76(EF4) Asp>His HbVar.111 commonName Hb Q-Iran HbVar.111 ethnic Iranian HbVar.111 ethnic Turkish HbVar.111 ethnic Pakistani HbVar.111 phenoCommon Hemoglobin variant HbVar.112 protEffect HBA1 76(EF4) Asp>Ala HbVar.112 commonName Hb Duan HbVar.112 ethnic Chinese HbVar.112 phenoCommon Hemoglobin variant HbVar.113 protEffect HBA2 or HBA1 76(EF4) Asp>Tyr HbVar.113 commonName Hb Winnipeg HbVar.113 ethnic Caucasian HbVar.113 ethnic Sardinian HbVar.113 phenoCommon Hemoglobin variant HbVar.114 protEffect HBA2 or HBA1 76(EF4) Asp>Asn HbVar.114 commonName Hb Matsue-Oki HbVar.114 ethnic Japanese HbVar.114 ethnic Black HbVar.114 phenoCommon Hemoglobin variant HbVar.115 protEffect HBA2 or HBA1 76(EF4) Asp>Gly HbVar.115 commonName Hb Mizushi HbVar.115 ethnic Japanese HbVar.115 phenoCommon Hemoglobin variant HbVar.116 protEffect HBA2 or HBA1 77(EF5) Met>Lys HbVar.116 commonName Hb Noko HbVar.116 phenoCommon Hemoglobin variant HbVar.117 protEffect HBA2 or HBA1 77(EF5) Met>Thr HbVar.117 commonName Hb Aztec HbVar.117 ethnic Mexican HbVar.117 ethnic Spanish HbVar.117 phenoCommon Hemoglobin variant HbVar.118 protEffect HBA2 or HBA1 78(EF6) Pro>Arg HbVar.118 commonName Hb GuiZhou HbVar.118 ethnic Chinese HbVar.118 ethnic Japanese HbVar.118 phenoCommon Hemoglobin variant HbVar.119 protEffect HBA2 or HBA1 79(EF7) Asn>Lys HbVar.119 commonName Hb Stanleyville-II HbVar.119 ethnic Black HbVar.119 phenoCommon Hemoglobin variant HbVar.120 protEffect HBA2 or HBA1 79(EF7) Asn>Asp HbVar.120 commonName Hb J-Singa HbVar.120 ethnic Acadian HbVar.120 ethnic French HbVar.120 phenoCommon Hemoglobin variant HbVar.121 protEffect HBA1 79(EF7) Asn>His HbVar.121 commonName Hb Davenport HbVar.121 ethnic German HbVar.121 phenoCommon Hemoglobin variant HbVar.122 protEffect HBA2 or HBA1 80(EF8) Ala>Thr HbVar.122 commonName Hb Mantes-La-Jolie HbVar.122 ethnic Chadian HbVar.122 phenoCommon Hemoglobin variant HbVar.123 protEffect HBA2 or HBA1 81(F1) Leu>Arg HbVar.123 commonName Hb Ann Arbor HbVar.123 ethnic Caucasian HbVar.123 phenoCommon Hemoglobin variant HbVar.124 protEffect HBA2 81(F1) Leu>Val HbVar.124 commonName Hb Conakry HbVar.124 ethnic Guinean HbVar.124 phenoCommon Hemoglobin variant HbVar.125 protEffect HBA2 or HBA1 82(F2) Ser>Cys HbVar.125 commonName Hb Nigeria HbVar.125 ethnic Nigerian HbVar.125 phenoCommon Hemoglobin variant HbVar.126 protEffect HBA2 or HBA1 83(F3) Ala>Asp HbVar.126 commonName Hb Garden State HbVar.126 phenoCommon Hemoglobin variant HbVar.127 protEffect HBA2 84(F4) Leu>Pro HbVar.127 commonName Hb Les Andelys HbVar.127 ethnic French HbVar.127 phenoCommon Hemoglobin variant HbVar.128 protEffect HBA2 or HBA1 85(F5) Ser>Arg HbVar.128 commonName Hb Etobicoke HbVar.128 ethnic Irish HbVar.128 ethnic French HbVar.128 ethnic American Indian HbVar.128 ethnic English HbVar.128 phenoCommon Hemoglobin variant HbVar.129 protEffect HBA2 or HBA1 86(F6) Asp>Asn HbVar.129 commonName Hb G-Norfolk HbVar.129 ethnic English HbVar.129 phenoCommon Hemoglobin variant HbVar.130 protEffect HBA2 or HBA1 86(F6) Asp>Tyr HbVar.130 commonName Hb Atago HbVar.130 ethnic Japanese HbVar.130 phenoCommon Hemoglobin variant HbVar.131 protEffect HBA2 86(F6) Asp>Val HbVar.131 commonName Hb Inkster HbVar.131 ethnic English HbVar.131 ethnic German HbVar.131 ethnic Black HbVar.131 phenoCommon Hemoglobin variant HbVar.132 protEffect HBA2 or HBA1 87(F7) Leu>Arg HbVar.132 commonName Hb Moabit HbVar.132 ethnic Turkish HbVar.132 phenoCommon Hemoglobin variant HbVar.133 protEffect HBA2 or HBA1 88(F8) His>Arg HbVar.133 commonName Hb Iwata HbVar.133 ethnic Japanese HbVar.133 ethnic Chinese HbVar.133 phenoCommon Hemoglobin variant HbVar.134 protEffect HBA2 or HBA1 88(F8) His>Tyr HbVar.134 commonName Hb M-Iwate HbVar.134 alias Hb M-Kankakee HbVar.134 alias Hb M-Oldenburg HbVar.134 alias Hb M-Sendai HbVar.134 ethnic Japanese HbVar.134 ethnic Irish HbVar.134 ethnic German HbVar.134 ethnic Turkish HbVar.134 ethnic Rumanian HbVar.134 ethnic Scottish HbVar.134 ethnic Caucasian HbVar.134 ethnic Black HbVar.134 phenoCommon Hemoglobin variant HbVar.135 protEffect HBA2 or HBA1 88(F8) His>Asn HbVar.135 commonName Hb Auckland HbVar.135 ethnic New Zealand HbVar.135 phenoCommon Hemoglobin variant HbVar.136 protEffect HBA2 or HBA1 89(F9) Ala>Ser HbVar.136 commonName Hb Loire HbVar.136 ethnic French HbVar.136 ethnic Algerian HbVar.136 phenoCommon Hemoglobin variant HbVar.137 protEffect HBA2 or HBA1 89(F9) Ala>Val HbVar.137 commonName Hb Columbia Missouri HbVar.137 ethnic Caucasian HbVar.137 phenoCommon Hemoglobin variant HbVar.138 protEffect HBA2 or HBA1 89(F9) Ala>Gly HbVar.138 commonName Hb Valparaiso HbVar.138 ethnic Chilean HbVar.138 phenoCommon Hemoglobin variant HbVar.139 protEffect HBA2 or HBA1 90(FG1) His>Leu HbVar.139 commonName Hb Luton HbVar.139 ethnic Pakistani HbVar.139 phenoCommon Hemoglobin variant HbVar.140 protEffect HBA2 or HBA1 90(FG1) His>Tyr HbVar.140 commonName Hb Villeurbanne HbVar.140 phenoCommon Hemoglobin variant HbVar.141 protEffect HBA2 or HBA1 90(FG1) His>Pro HbVar.141 commonName Hb Tokyo HbVar.141 ethnic Japanese HbVar.141 phenoCommon Hemoglobin variant HbVar.142 protEffect HBA2 91(FG2) Lys>Asn OR HBA1 91(FG2) Lys>Asn HbVar.142 commonName Hb J-Broussais HbVar.142 alias Hb Tagawa-I HbVar.142 ethnic French HbVar.142 ethnic Australian HbVar.142 ethnic French Canadian HbVar.142 ethnic Japanese HbVar.142 phenoCommon Hemoglobin variant HbVar.143 protEffect HBA1 91(FG2) Lys>Thr HbVar.143 commonName Hb J-Rajappen HbVar.143 ethnic Indian HbVar.143 phenoCommon Hemoglobin variant HbVar.144 protEffect HBA2 or HBA1 91(FG2) Lys>Met HbVar.144 commonName Hb Handa HbVar.144 alias Hb Munakata HbVar.144 ethnic Japanese HbVar.144 phenoCommon Hemoglobin variant HbVar.145 protEffect HBA2 or HBA1 92(FG3) Leu>Pro HbVar.145 commonName Hb Port Phillip HbVar.145 ethnic Chinese HbVar.145 phenoCommon Hemoglobin variant HbVar.146 protEffect HBA2 or HBA1 93(FG4) Arg>Gln HbVar.146 commonName Hb J-Cape Town HbVar.146 ethnic Japanese HbVar.146 ethnic South African HbVar.146 phenoCommon Hemoglobin variant HbVar.147 protEffect HBA2 or HBA1 93(FG4) Arg>Trp HbVar.147 commonName Hb Cemenelum HbVar.147 ethnic French Caucasian HbVar.147 phenoCommon Hemoglobin variant HbVar.148 protEffect HBA2 or HBA1 93(FG4) Arg>Leu HbVar.148 commonName Hb Chesapeake HbVar.148 ethnic German HbVar.148 ethnic Irish HbVar.148 ethnic Japanese HbVar.148 phenoCommon Hemoglobin variant HbVar.149 protEffect HBA2 93(FG4) Arg>Pro HbVar.149 commonName Hb Monou HbVar.149 ethnic Japanese HbVar.149 phenoCommon Hemoglobin variant HbVar.150 protEffect HBA2 94(FG5) Val>Gly HbVar.150 commonName Hb Bronte HbVar.150 ethnic Italian HbVar.150 phenoCommon Hemoglobin variant HbVar.151 protEffect HBA2 or HBA1 95(G1) Asp>Asn HbVar.151 commonName Hb Titusville HbVar.151 ethnic Black HbVar.151 ethnic Scandinavian HbVar.151 phenoCommon Hemoglobin variant HbVar.152 protEffect HBA2 95(G1) Asp>Tyr HbVar.152 commonName Hb Setif HbVar.152 ethnic Algerian HbVar.152 ethnic Iranian HbVar.152 ethnic Lebanese HbVar.152 ethnic Saudi Arabian HbVar.152 phenoCommon Hemoglobin variant HbVar.153 protEffect HBA2 95(G1) Asp>His HbVar.153 commonName Hb Sunshine Seth HbVar.153 ethnic Caucasian HbVar.153 phenoCommon Hemoglobin variant HbVar.154 protEffect HBA1 95(G1) Asp>Gly HbVar.154 commonName Hb Capa HbVar.154 ethnic Turkish HbVar.154 phenoCommon Hemoglobin variant HbVar.155 protEffect HBA2 or HBA1 95(G1) Asp>Glu HbVar.155 commonName Hb Roanne HbVar.155 ethnic French HbVar.155 phenoCommon Hemoglobin variant HbVar.156 protEffect HBA2 or HBA1 95(G1) Asp>Ala HbVar.156 commonName Hb Bassett HbVar.156 ethnic Caucasian HbVar.156 phenoCommon Hemoglobin variant HbVar.157 protEffect HBA2 96(G2) Pro>Leu HbVar.157 commonName Hb G-Georgia HbVar.157 ethnic Black HbVar.157 ethnic Portuguese HbVar.157 phenoCommon Hemoglobin variant HbVar.158 protEffect HBA2 or HBA1 96(G2) Pro>Ser HbVar.158 commonName Hb Rampa HbVar.158 ethnic Indian HbVar.158 ethnic North European HbVar.158 phenoCommon Hemoglobin variant HbVar.159 protEffect HBA2 or HBA1 96(G2) Pro>Ala HbVar.159 commonName Hb Denmark Hill HbVar.159 ethnic West Indian HbVar.159 ethnic Spanish HbVar.159 phenoCommon Hemoglobin variant HbVar.160 protEffect HBA1 96(G2) Pro>Arg HbVar.160 commonName Hb St. Luke's HbVar.160 ethnic Maltese HbVar.160 ethnic Japanese HbVar.160 phenoCommon Hemoglobin variant HbVar.161 protEffect HBA2 or HBA1 96(G2) Pro>Thr HbVar.161 commonName Hb Godavari HbVar.161 ethnic Indian HbVar.161 ethnic Malay HbVar.161 ethnic African HbVar.161 phenoCommon Hemoglobin variant HbVar.162 protEffect HBA2 98(G4) Asn>Lys HbVar.162 commonName Hb Dallas HbVar.162 ethnic Caucasian HbVar.162 phenoCommon Hemoglobin variant HbVar.163 protEffect HBA2 98(G4) Asn>His HbVar.163 commonName Hb Fuchu-II HbVar.163 alias Hb Shinbashi HbVar.163 ethnic Japanese HbVar.163 phenoCommon Hemoglobin variant HbVar.164 protEffect HBA2 or HBA1 100(G6) Lys>Glu HbVar.164 commonName Hb Turriff HbVar.164 ethnic Scottish HbVar.164 phenoCommon Hemoglobin variant HbVar.165 protEffect HBA2 103(G9) Ser>Arg HbVar.165 commonName Hb Manitoba I HbVar.165 ethnic English HbVar.165 ethnic German HbVar.165 ethnic Irish HbVar.165 ethnic Italian HbVar.165 phenoCommon Hemoglobin variant HbVar.166 protEffect HBA2 or HBA1 104(G10) His>Arg HbVar.166 commonName Hb Contaldo HbVar.166 ethnic Italian HbVar.166 phenoCommon Hemoglobin variant HbVar.167 protEffect HBA2 105(G11) Cys>Tyr HbVar.167 commonName Hb Sallanches HbVar.167 alias Codon 104 (G->A) of the alpha2 gene; TGC->TAC alpha-Thal-2 HbVar.167 ethnic French Caucasian HbVar.167 ethnic Indian HbVar.167 ethnic Pakistani HbVar.167 phenoCommon Thalassemia HbVar.167 phenoCommon Splenomegaly HbVar.167 phenoCommon hemolytic Anemia HbVar.167 phenoCommon hemolytic crisis induced by oxidative stress Anemia HbVar.168 protEffect HBA2 110(G16) Leu>Arg HbVar.168 commonName Hb Suan-Dok HbVar.168 alias Codon 109 (T->G) of the alpha2 gene; CTG->CGG alpha-Thal-2 HbVar.168 ethnic Thai HbVar.168 phenoCommon Thalassemia HbVar.169 protEffect HBA2 or HBA1 111(G17) Ala>Asp HbVar.169 commonName Hb Petah Tikva HbVar.169 alias Codon 110 (C->A); alpha2 or alpha1 gene; GCC->GAC alpha-Thal-2 HbVar.169 ethnic Iraqi Jews HbVar.169 phenoCommon alpha-2 thalassemia HbVar.170 protEffect HBA2 or HBA1 111(G17) Ala>Thr HbVar.170 commonName Hb Tonosho HbVar.170 ethnic Japanese HbVar.170 phenoCommon Hemoglobin variant HbVar.171 protEffect HBA2 112(G18) Ala>Val HbVar.171 commonName Hb Anamosa HbVar.171 ethnic Caucasian HbVar.171 phenoCommon Hemoglobin variant HbVar.172 protEffect HBA2 or HBA1 112(G18) Ala>Thr HbVar.172 commonName Hb Mosella HbVar.172 ethnic Luxembourg HbVar.172 phenoCommon Hemoglobin variant HbVar.173 protEffect HBA2 or HBA1 113(G19) His>Asp HbVar.173 commonName Hb Hopkins-II HbVar.173 ethnic Caucasian HbVar.173 phenoCommon Hemoglobin variant HbVar.174 protEffect HBA2 or HBA1 113(G19) His>Arg HbVar.174 commonName Hb Strumica HbVar.174 alias Hb Serbia HbVar.174 ethnic Serbian HbVar.174 ethnic Turkish HbVar.174 ethnic Macedonian HbVar.174 phenoCommon Hemoglobin variant HbVar.175 protEffect HBA2 or HBA1 114(GH1) Leu>His HbVar.175 commonName Hb Twin Peaks HbVar.175 ethnic Irish HbVar.175 ethnic Mexican HbVar.175 phenoCommon Hemoglobin variant HbVar.176 protEffect HBA2 or HBA1 115(GH2) Pro>Arg HbVar.176 commonName Hb Chiapas HbVar.176 ethnic Mexican HbVar.176 phenoCommon Hemoglobin variant HbVar.177 protEffect HBA2 or HBA1 115(GH2) Pro>Leu HbVar.177 commonName Hb Nouakchott HbVar.177 ethnic Northwest African HbVar.177 phenoCommon Hemoglobin variant HbVar.178 protEffect HBA2 or HBA1 115(GH2) Pro>Ser HbVar.178 commonName Hb Melusine HbVar.178 ethnic Algerian HbVar.178 phenoCommon Hemoglobin variant HbVar.179 protEffect HBA2 or HBA1 116(GH3) Ala>Asp HbVar.179 commonName Hb J-Tongariki HbVar.179 ethnic Melanesian HbVar.179 ethnic Kilengi HbVar.179 phenoCommon Hemoglobin variant HbVar.180 protEffect HBA1 117(GH4) Glu>Lys HbVar.180 commonName Hb O-Indonesia HbVar.180 alias Hb Oliviere HbVar.180 alias Hb Buginese-X HbVar.180 ethnic Buginese HbVar.180 ethnic Chinese HbVar.180 ethnic Iranian HbVar.180 ethnic Italian HbVar.180 ethnic Makassars HbVar.180 ethnic South African HbVar.180 phenoCommon Hemoglobin variant HbVar.181 protEffect HBA2 or HBA1 117(GH4) Glu>Ala HbVar.181 commonName Hb Ube-4 HbVar.181 ethnic Japanese HbVar.181 ethnic Korean HbVar.181 phenoCommon Hemoglobin variant HbVar.182 protEffect HBA2 or HBA1 117(GH4) Glu>Gln HbVar.182 commonName Hb Oleander HbVar.182 ethnic Black HbVar.182 phenoCommon Hemoglobin variant HbVar.183 protEffect HBA2 or HBA1 121(H3) Ala>Glu HbVar.183 commonName Hb J-Meerut HbVar.183 alias Hb J-Birmingham HbVar.183 ethnic Indian HbVar.183 ethnic Japanese HbVar.183 ethnic Turkish HbVar.183 phenoCommon Hemoglobin variant HbVar.184 protEffect HBA2 or HBA1 122(H4) Val>Met HbVar.184 commonName Hb Owari HbVar.184 ethnic Japanese HbVar.184 phenoCommon Hemoglobin variant HbVar.185 protEffect HBA2 123(H5) His>Gln HbVar.185 commonName Hb Westmead HbVar.185 ethnic Laotian HbVar.185 ethnic Chinese HbVar.185 phenoCommon Hemoglobin variant HbVar.186 protEffect HBA1 124(H6) Ala>Ser HbVar.186 commonName Hb Mulhacen HbVar.186 ethnic Spanish HbVar.186 phenoCommon Hemoglobin variant HbVar.187 protEffect HBA2 126(H8) Leu>Pro HbVar.187 commonName Hb Quong Sze HbVar.187 alias Codon 125 (T->C) of the alpha2 gene; CTG->CCG alpha-Thal-2 HbVar.187 ethnic Chinese HbVar.187 phenoCommon alpha-2 thalassemia HbVar.188 protEffect HBA2 or HBA1 127(H9) Asp>Asn HbVar.188 commonName Hb Tarrant HbVar.188 ethnic Mexican HbVar.188 phenoCommon Hemoglobin variant HbVar.188 phenoCommon mild Erythrocytosis HbVar.189 protEffect HBA1 127(H9) Asp>His HbVar.189 commonName Hb Sassari HbVar.189 ethnic Northern Sardinia HbVar.189 phenoCommon Hemoglobin variant HbVar.190 protEffect HBA2 or HBA1 127(H9) Asp>Val HbVar.190 commonName Hb Fukutomi HbVar.190 ethnic Japanese HbVar.190 phenoCommon Hemoglobin variant HbVar.191 protEffect HBA2 or HBA1 127(H9) Asp>Tyr HbVar.191 commonName Hb Montefiore HbVar.191 ethnic Puerto Rican HbVar.191 phenoCommon Hemoglobin variant HbVar.192 protEffect HBA2 or HBA1 127(H9) Asp>Gly HbVar.192 commonName Hb West One HbVar.192 ethnic Egyptian HbVar.192 phenoCommon Hemoglobin variant HbVar.193 protEffect HBA2 or HBA1 128(H10) Lys>Thr HbVar.193 commonName Hb St. Claude HbVar.193 ethnic French Canadian HbVar.193 phenoCommon Hemoglobin variant HbVar.194 protEffect HBA2 or HBA1 128(H10) Lys>Asn HbVar.194 commonName Hb Jackson HbVar.194 ethnic Black HbVar.194 phenoCommon Hemoglobin variant HbVar.195 protEffect HBA1 130(H12) Leu>Pro HbVar.195 commonName Hb Tunis-Bizerte HbVar.195 alias Hb Utrecht HbVar.195 ethnic Tunisian HbVar.195 phenoCommon Hemoglobin variant HbVar.195 phenoCommon marked Anemia HbVar.195 phenoCommon Microcytosis HbVar.196 protEffect HBA2 130(H12) Leu>Pro HbVar.196 commonName Hb Utrecht HbVar.196 alias Codon 129 (T->C) of the alpha2 gene; CTG->CCG alpha-Thal-2 HbVar.196 ethnic Polish HbVar.196 ethnic Indonesian HbVar.196 ethnic Armenian HbVar.196 phenoCommon alpha-2 thalassemia HbVar.197 protEffect HBA2 131(H13) Ala>Pro HbVar.197 commonName Hb Sun Prairie HbVar.197 alias Codon 130 (G->C) of the alpha2 gene; GCT->CCT alpha-Thal-2 HbVar.197 ethnic Indian HbVar.197 phenoCommon alpha-2 thalassemia HbVar.197 phenoCommon moderate Splenomegaly HbVar.197 phenoCommon Heinz bodies HbVar.198 protEffect HBA2 131(H13) Ala>Asp HbVar.198 commonName Hb Yuda HbVar.198 ethnic Japanese HbVar.198 phenoCommon Hemoglobin variant HbVar.199 protEffect HBA2 or HBA1 132(H14) Ser>Pro HbVar.199 commonName Hb Questembert HbVar.199 alias Codon 131 (T->C) at codon 131 of the alpha2 gene; TCT->CCT alpha-Thal-2 HbVar.199 ethnic French HbVar.199 phenoCommon alpha-2 thalassemia HbVar.200 protEffect HBA2 or HBA1 133(H15) Val>Gly HbVar.200 commonName Hb Caen HbVar.200 ethnic French Caucasian HbVar.200 phenoCommon Hemoglobin variant HbVar.201 protEffect HBA2 or HBA1 134(H16) Ser>Arg HbVar.201 commonName Hb Val de Marne HbVar.201 alias Hb Footscray HbVar.201 ethnic Chinese HbVar.201 ethnic French HbVar.201 ethnic Hungarian HbVar.201 ethnic Polish HbVar.201 phenoCommon Hemoglobin variant HbVar.202 protEffect HBA2 or HBA1 134(H16) Ser>Asn HbVar.202 commonName Hb Saclay HbVar.202 ethnic Algerian HbVar.202 ethnic Alsatian HbVar.202 phenoCommon Hemoglobin variant HbVar.203 protEffect HBA2 or HBA1 136(H18) Val>Glu HbVar.203 commonName Hb Pavie HbVar.203 ethnic Italian HbVar.203 phenoCommon Hemoglobin variant HbVar.204 protEffect HBA2 137(H19) Leu>Pro HbVar.204 commonName Hb Bibba HbVar.204 ethnic Caucasian HbVar.204 phenoCommon Hemoglobin variant HbVar.205 protEffect HBA2 or HBA1 137(H19) Leu>Arg HbVar.205 commonName Hb Toyama HbVar.205 ethnic Japanese HbVar.205 phenoCommon Hemoglobin variant HbVar.206 protEffect HBA2 137(H19) Leu>Met HbVar.206 commonName Hb Chicago HbVar.206 ethnic Black HbVar.206 phenoCommon Hemoglobin variant HbVar.207 protEffect HBA2 or HBA1 139(H21) Ser>Pro HbVar.207 commonName Hb Attleboro HbVar.207 phenoCommon Hemoglobin variant HbVar.208 protEffect HBA2 or HBA1 140(HC1) Lys>Thr HbVar.208 commonName Hb Tokoname HbVar.208 ethnic Japanese HbVar.208 phenoCommon Hemoglobin variant HbVar.209 protEffect HBA1 140(HC1) Lys>Glu HbVar.209 commonName Hb Hanamaki-1 HbVar.209 ethnic Japanese HbVar.209 phenoCommon Hemoglobin variant HbVar.210 protEffect HBA2 or HBA1 141(HC2) Tyr>His HbVar.210 commonName Hb Ethiopia HbVar.210 alias Hb Rouen HbVar.210 ethnic Ethiopian HbVar.210 ethnic French HbVar.210 phenoCommon Hemoglobin variant HbVar.211 protEffect HBA2 or HBA1 142(HC3) Arg>Pro HbVar.211 commonName Hb Singapore HbVar.211 ethnic Singapore HbVar.211 phenoCommon Hemoglobin variant HbVar.212 protEffect HBA2 or HBA1 142(HC3) Arg>His HbVar.212 commonName Hb Suresnes HbVar.212 ethnic French HbVar.212 ethnic Black HbVar.212 phenoCommon Hemoglobin variant HbVar.213 protEffect HBA2 or HBA1 142(HC3) Arg>Ser HbVar.213 commonName Hb J-Cubujuqui HbVar.213 ethnic American Indian HbVar.213 ethnic Mexican HbVar.213 phenoCommon Hemoglobin variant HbVar.214 protEffect HBA2 or HBA1 142(HC3) Arg>Leu HbVar.214 commonName Hb Legnano HbVar.214 ethnic Italian HbVar.214 ethnic Japanese HbVar.214 phenoCommon Hemoglobin variant HbVar.215 protEffect HBA2 or HBA1 142(HC3) Arg>Gly HbVar.215 commonName Hb J-Camaguey HbVar.215 ethnic Spanish HbVar.215 ethnic Chinese HbVar.215 ethnic Australian HbVar.215 phenoCommon Hemoglobin variant HbVar.216 protEffect HBA2 or HBA1 142(HC3) Arg>Cys HbVar.216 commonName Hb Nunobiki HbVar.216 ethnic Japanese HbVar.216 phenoCommon Hemoglobin variant HbVar.217 protEffect HBB 2(NA1) Val>Ala HbVar.217 commonName Hb Raleigh HbVar.217 ethnic Swedish HbVar.217 ethnic Caucasian HbVar.217 phenoCommon Hemoglobin variant HbVar.218 protEffect HBB 2(NA1) Val>Leu HbVar.218 commonName Hb Niigata HbVar.218 ethnic Japanese HbVar.218 phenoCommon Hemoglobin variant HbVar.219 protEffect HBB 3(NA2) His>Arg HbVar.219 commonName Hb Deer Lodge HbVar.219 ethnic Welsh HbVar.219 ethnic Dutch HbVar.219 ethnic English HbVar.219 ethnic Black HbVar.219 phenoCommon Hemoglobin variant HbVar.220 protEffect HBB 3(NA2) His>Gln HbVar.220 commonName Hb Okayama HbVar.220 ethnic Japanese HbVar.220 phenoCommon Hemoglobin variant HbVar.221 protEffect HBB 3(NA2) His>Tyr HbVar.221 commonName Hb Fukuoka HbVar.221 ethnic Japanese HbVar.221 phenoCommon Hemoglobin variant HbVar.222 protEffect HBB 3(NA2) His>Leu HbVar.222 commonName Hb Graz HbVar.222 ethnic Austrian HbVar.222 phenoCommon Hemoglobin variant HbVar.223 protEffect HBB 3(NA2) His>Pro HbVar.223 commonName Hb Agrigente HbVar.223 ethnic Sicilian HbVar.223 phenoCommon Hemoglobin variant HbVar.224 protEffect HBB 6(A2) Pro>Arg HbVar.224 commonName Hb Warwickshire HbVar.224 ethnic Scottish HbVar.224 phenoCommon Hemoglobin variant HbVar.225 protEffect HBB 6(A2) Pro>Ser HbVar.225 commonName Hb Tyne HbVar.225 ethnic English HbVar.225 phenoCommon Hemoglobin variant HbVar.226 protEffect HBB 7(A3) Glu>Val HbVar.226 commonName Hb S HbVar.226 ethnic Black HbVar.226 ethnic American Indian HbVar.226 phenoCommon Hemoglobin variant HbVar.226 phenoCommon hemolytic Anemia HbVar.226 phenoCommon Jaundice HbVar.227 protEffect HBB 7(A3) Glu>Lys HbVar.227 commonName Hb C HbVar.227 ethnic Black HbVar.227 phenoCommon Hemoglobin variant HbVar.227 phenoCommon Target cells HbVar.227 phenoCommon hemolytic Anemia HbVar.227 phenoCommon mild Anemia HbVar.227 phenoCommon Intraerythrocytic crystals HbVar.228 protEffect HBB 7(A3) Glu>Ala HbVar.228 commonName Hb G-Makassar HbVar.228 ethnic Indonesian HbVar.228 ethnic Thai HbVar.228 phenoCommon Hemoglobin variant HbVar.228 phenoCommon Normal HbVar.229 protEffect HBB 7(A3) Glu>Gln HbVar.229 commonName Hb Machida HbVar.229 ethnic Japanese HbVar.229 phenoCommon Hemoglobin variant HbVar.230 protEffect HBB 8(A4) Glu>Gly HbVar.230 commonName Hb G-San Jose HbVar.230 ethnic Italian HbVar.230 ethnic Mexican HbVar.230 phenoCommon Hemoglobin variant HbVar.230 phenoCommon Normal HbVar.231 protEffect HBB 8(A4) Glu>Lys HbVar.231 commonName Hb G-Siriraj HbVar.231 ethnic Thai HbVar.231 ethnic Chinese HbVar.231 phenoCommon Hemoglobin variant HbVar.232 protEffect HBB 9(A5) Lys>Thr HbVar.232 commonName Hb Rio Grande HbVar.232 ethnic Mexican HbVar.232 phenoCommon Hemoglobin variant HbVar.233 protEffect HBB 9(A5) Lys>Gln HbVar.233 commonName Hb J-Luhe HbVar.233 ethnic Chinese HbVar.233 phenoCommon Hemoglobin variant HbVar.234 protEffect HBB 9(A5) Lys>Glu HbVar.234 commonName Hb N-Timone HbVar.234 ethnic Italian HbVar.234 ethnic French HbVar.234 phenoCommon Hemoglobin variant HbVar.235 protEffect HBB 9(A5) Lys>Met HbVar.235 commonName Hb Nakano HbVar.235 ethnic Japanese HbVar.235 phenoCommon Hemoglobin variant HbVar.236 protEffect HBB 10(A6) Ser>Cys HbVar.236 commonName Hb Porto Alegre HbVar.236 ethnic Argentine HbVar.236 ethnic Brazilian HbVar.236 ethnic Canary Islands HbVar.236 phenoCommon Hemoglobin variant HbVar.236 phenoCommon Normal HbVar.237 protEffect HBB 11(A7) Ala>Asp HbVar.237 commonName Hb Ankara HbVar.237 ethnic Turkish HbVar.237 ethnic Japanese HbVar.237 phenoCommon Hemoglobin variant HbVar.238 protEffect HBB 11(A7) Ala>Val HbVar.238 commonName Hb Iraq-Halabja HbVar.238 ethnic Iraqi HbVar.238 phenoCommon Hemoglobin variant HbVar.239 protEffect HBB 12(A8) Val>Ile HbVar.239 commonName Hb Hamilton HbVar.239 ethnic Austrian HbVar.239 ethnic Chinese HbVar.239 ethnic Sardinian HbVar.239 phenoCommon Hemoglobin variant HbVar.240 protEffect HBB 12(A8) Val>Asp HbVar.240 commonName Hb Windsor HbVar.240 ethnic Anglo-Saxon HbVar.240 phenoCommon Hemoglobin variant HbVar.241 protEffect HBB 12(A8) Val>Phe HbVar.241 commonName Hb Washtenaw HbVar.241 ethnic Hungarian HbVar.241 ethnic American HbVar.241 phenoCommon Hemoglobin variant HbVar.242 protEffect HBB 14(A10) Ala>Asp HbVar.242 commonName Hb J-Lens HbVar.242 ethnic French HbVar.242 phenoCommon Hemoglobin variant HbVar.243 protEffect HBB 15(A11) Leu>Arg HbVar.243 commonName Hb Sogn HbVar.243 ethnic Norwegian HbVar.243 ethnic American HbVar.243 phenoCommon Hemoglobin variant HbVar.244 protEffect HBB 15(A11) Leu>Pro HbVar.244 commonName Hb Saki HbVar.244 ethnic African HbVar.244 ethnic Caucasian HbVar.244 phenoCommon Hemoglobin variant HbVar.245 protEffect HBB 16(A12) Trp>Arg HbVar.245 commonName Hb Belfast HbVar.245 ethnic French HbVar.245 ethnic Irish HbVar.245 ethnic Italian HbVar.245 phenoCommon Hemoglobin variant HbVar.246 protEffect HBB 16(A12) Trp>Gly HbVar.246 commonName Hb Randwick HbVar.246 ethnic North Italian HbVar.246 phenoCommon Hemoglobin variant HbVar.247 protEffect HBB 17(A13) Gly>Asp HbVar.247 commonName Hb J-Baltimore HbVar.247 alias Hb J-Trinidad HbVar.247 alias Hb J-Ireland HbVar.247 alias Hb N-New Haven HbVar.247 alias Hb J-Georgia HbVar.247 ethnic Black HbVar.247 ethnic English HbVar.247 ethnic Dutch HbVar.247 ethnic French HbVar.247 ethnic Swedish HbVar.247 ethnic Spanish HbVar.247 phenoCommon Hemoglobin variant HbVar.248 protEffect HBB 17(A13) Gly>Arg HbVar.248 commonName Hb D-Bushman HbVar.248 ethnic Kalahari Bushman HbVar.248 phenoCommon Hemoglobin variant HbVar.249 protEffect HBB 18(A14) Lys>Glu HbVar.249 commonName Hb Nagasaki HbVar.249 ethnic Japanese HbVar.249 phenoCommon Hemoglobin variant HbVar.250 protEffect HBB 18(A14) Lys>Asn HbVar.250 commonName Hb J-Amiens HbVar.250 ethnic Spanish HbVar.250 ethnic Japanese HbVar.250 phenoCommon Hemoglobin variant HbVar.251 protEffect HBB 18(A14) Lys>Gln HbVar.251 commonName Hb Nikosia HbVar.251 ethnic Cypriot HbVar.251 phenoCommon Hemoglobin variant HbVar.252 protEffect HBB 19(A15) Val>Met HbVar.252 commonName Hb Baden HbVar.252 ethnic East German HbVar.252 phenoCommon Hemoglobin variant HbVar.253 protEffect HBB 19(A15) Val>Gly HbVar.253 commonName Hb Sinai-Baltimore HbVar.253 ethnic Black HbVar.253 phenoCommon Hemoglobin variant HbVar.254 protEffect HBB 20(B1) Asn>Lys HbVar.254 commonName Hb D-Ouled Rabah HbVar.254 ethnic Algerian HbVar.254 ethnic Tuareg tribe HbVar.254 phenoCommon Hemoglobin variant HbVar.255 protEffect HBB 20(B1) Asn>Asp HbVar.255 commonName Hb Alamo HbVar.255 ethnic Black HbVar.255 phenoCommon Hemoglobin variant HbVar.256 protEffect HBB 20(B1) Asn>Ser HbVar.256 commonName Hb Malay HbVar.256 alias Codon 19 (A->G); AAC(Asn)->AGC(Ser) beta+ HbVar.256 ethnic Thai HbVar.256 ethnic Malaysian HbVar.256 ethnic Singapore HbVar.256 ethnic Chinese HbVar.256 phenoCommon beta+ thalassemia HbVar.256 phenoCommon moderate Microcytosis HbVar.256 phenoCommon moderate Hypochromia HbVar.257 protEffect HBB 21(B2) Val>Met HbVar.257 commonName Hb Olympia HbVar.257 ethnic Caucasian HbVar.257 ethnic Algerian HbVar.257 ethnic French HbVar.257 ethnic Tunisian HbVar.257 phenoCommon Hemoglobin variant HbVar.258 protEffect HBB 21(B2) Val>Glu HbVar.258 commonName Hb Trollhattan HbVar.258 ethnic Swedish HbVar.258 phenoCommon Hemoglobin variant HbVar.259 protEffect HBB 21(B2) Val>Gly HbVar.259 commonName Hb Uxbridge HbVar.259 ethnic English HbVar.259 phenoCommon Hemoglobin variant HbVar.260 protEffect HBB 22(B3) Asp>Tyr HbVar.260 commonName Hb Yusa HbVar.260 ethnic Japanese HbVar.260 phenoCommon Hemoglobin variant HbVar.261 protEffect HBB 22(B3) Asp>Gly HbVar.261 commonName Hb Connecticut HbVar.261 ethnic Polish HbVar.261 phenoCommon Hemoglobin variant HbVar.262 protEffect HBB 22(B3) Asp>Asn HbVar.262 commonName Hb Cocody HbVar.262 ethnic Ivory Coast HbVar.262 ethnic Japanese HbVar.262 phenoCommon Hemoglobin variant HbVar.263 protEffect HBB 22(B3) Asp>His HbVar.263 commonName Hb Karlskoga HbVar.263 ethnic Swedish HbVar.263 ethnic American HbVar.263 phenoCommon Hemoglobin variant HbVar.264 protEffect HBB 23(B4) Glu>Lys HbVar.264 commonName Hb E-Saskatoon HbVar.264 ethnic Greek HbVar.264 ethnic Japanese HbVar.264 ethnic Scottish HbVar.264 ethnic Turkish HbVar.264 phenoCommon Hemoglobin variant HbVar.265 protEffect HBB 23(B4) Glu>Gly HbVar.265 commonName Hb G-Taipei HbVar.265 ethnic Chinese HbVar.265 phenoCommon Hemoglobin variant HbVar.266 protEffect HBB 23(B4) Glu>Ala HbVar.266 commonName Hb G-Coushatta HbVar.266 alias Hb G-Saskatoon HbVar.266 alias Hb G-Hsin Chu HbVar.266 alias Hb G-Taegu HbVar.266 ethnic American Indian HbVar.266 ethnic Algerian HbVar.266 ethnic Chinese HbVar.266 ethnic Japanese HbVar.266 ethnic Korean HbVar.266 ethnic Thai HbVar.266 ethnic Turkish HbVar.266 ethnic Egyptian HbVar.266 phenoCommon Hemoglobin variant HbVar.266 phenoCommon Normal HbVar.267 protEffect HBB 23(B4) Glu>Gln HbVar.267 commonName Hb D-Iran HbVar.267 ethnic Iranian HbVar.267 ethnic Pakistani HbVar.267 ethnic Jamaican HbVar.267 ethnic Italian HbVar.267 phenoCommon Hemoglobin variant HbVar.268 protEffect HBB 23(B4) Glu>Val HbVar.268 commonName Hb D-Granada HbVar.268 ethnic Gypsy HbVar.268 phenoCommon Hemoglobin variant HbVar.269 protEffect HBB 24(B5) Val>Asp HbVar.269 commonName Hb Strasbourg HbVar.269 ethnic Portuguese HbVar.269 phenoCommon Hemoglobin variant HbVar.270 protEffect HBB 24(B5) Val>Gly HbVar.270 commonName Hb Miyashiro HbVar.270 ethnic Japanese HbVar.270 phenoCommon Hemoglobin variant HbVar.271 protEffect HBB 24(B5) Val>Phe HbVar.271 commonName Hb Palmerston North HbVar.271 ethnic New Zealand HbVar.271 ethnic American HbVar.271 phenoCommon Hemoglobin variant HbVar.272 protEffect HBB 25(B6) Gly>Arg HbVar.272 commonName Hb Riverdale-Bronx HbVar.272 ethnic German HbVar.272 ethnic Jewish HbVar.272 phenoCommon Hemoglobin variant HbVar.273 protEffect HBB 25(B6) Gly>Val HbVar.273 commonName Hb Savannah HbVar.273 ethnic Caucasian HbVar.273 phenoCommon Hemoglobin variant HbVar.274 protEffect HBB 25(B6) Gly>Asp HbVar.274 commonName Hb Moscva HbVar.274 ethnic Russian HbVar.274 phenoCommon Hemoglobin variant HbVar.275 protEffect HBB 26(B7) Gly>Arg HbVar.275 commonName Hb G-Taiwan-Ami HbVar.275 ethnic Aborigine HbVar.275 phenoCommon Hemoglobin variant HbVar.276 protEffect HBB 26(B7) Gly>Asp HbVar.276 commonName Hb J-Auckland HbVar.276 ethnic Scandinavian HbVar.276 ethnic Scottish HbVar.276 phenoCommon Hemoglobin variant HbVar.277 protEffect HBB 27(B8) Glu>Lys HbVar.277 commonName Hb E HbVar.277 alias Codon 26 (GAG->AAG) beta+ HbVar.277 ethnic Far East HbVar.277 phenoCommon Thalassemia HbVar.277 hap -++-+++- HbVar.277 hap +-----+- HbVar.277 hap -++-++-+ HbVar.277 hap +-++-++- HbVar.277 hap +.----++ HbVar.277 phenoCommon mild Anemia HbVar.277 phenoCommon hemolytic Anemia HbVar.277 phenoCommon Target cells HbVar.278 protEffect HBB 27(B8) Glu>Val HbVar.278 commonName Hb Henri Mondor HbVar.278 ethnic African HbVar.278 phenoCommon Hemoglobin variant HbVar.279 protEffect HBB 27(B8) Glu>Gly HbVar.279 commonName Hb Aubenas HbVar.279 ethnic French HbVar.279 phenoCommon Hemoglobin variant HbVar.280 protEffect HBB 28(B9) Ala>Asp HbVar.280 commonName Hb Volga HbVar.280 alias Hb Drenthe HbVar.280 ethnic Russian HbVar.280 ethnic Dutch HbVar.280 ethnic Egyptian HbVar.280 phenoCommon Hemoglobin variant HbVar.281 protEffect HBB 28(B9) Ala>Ser HbVar.281 commonName Hb Knossos HbVar.281 alias Codon 27 (G->T); GCC(Ala)->TCC(Ser) beta+ HbVar.281 ethnic Jordan HbVar.281 ethnic Egyptian HbVar.281 ethnic Tunisian HbVar.281 ethnic Algerian HbVar.281 phenoCommon beta+ thalassemia HbVar.281 phenoCommon moderate Anemia HbVar.281 phenoCommon marked Microcytosis HbVar.281 phenoCommon marked Hypochromia HbVar.282 protEffect HBB 28(B9) Ala>Val HbVar.282 commonName Hb Grange-Blanche HbVar.282 ethnic Portuguese HbVar.282 phenoCommon Hemoglobin variant HbVar.283 protEffect HBB 28(B9) Ala>Gly HbVar.283 commonName Hb Siirt HbVar.283 ethnic Kurdish HbVar.283 phenoCommon Hemoglobin variant HbVar.284 protEffect HBB 29(B10) Leu>Gln HbVar.284 commonName Hb Saint Louis HbVar.284 ethnic Yugoslavian HbVar.284 ethnic Slovakian HbVar.284 ethnic French HbVar.284 phenoCommon Hemoglobin variant HbVar.285 protEffect HBB 29(B10) Leu>Pro HbVar.285 commonName Hb Genova HbVar.285 alias Hb Hyogo HbVar.285 ethnic European HbVar.285 ethnic East Indian HbVar.285 ethnic Kenyan HbVar.285 ethnic Cuban HbVar.285 ethnic Libyan HbVar.285 ethnic Japanese HbVar.285 phenoCommon Hemoglobin variant HbVar.286 protEffect HBB 29(B10) Leu>Arg HbVar.286 commonName Hb Chesterfield HbVar.286 alias Codon 28 (T->G); CTG(Leu)->CGG(Arg) beta+ (inclusion body or dominant beta-thal) HbVar.286 ethnic English HbVar.286 phenoCommon beta+ thalassemia HbVar.287 protEffect HBB 29(B10) Leu>Met HbVar.287 commonName Hb Chile HbVar.287 ethnic American Indian HbVar.287 phenoCommon Hemoglobin variant HbVar.288 protEffect HBB 30(B11) Gly>Asp HbVar.288 commonName Hb Lufkin HbVar.288 ethnic Black HbVar.288 phenoCommon Hemoglobin variant HbVar.289 protEffect HBB 31(B12) Arg>Ser HbVar.289 commonName Hb Tacoma HbVar.289 ethnic Russian HbVar.289 ethnic Finnish HbVar.289 ethnic Swedish HbVar.289 ethnic American HbVar.289 phenoCommon Hemoglobin variant HbVar.290 protEffect HBB 31(B12) Arg>Thr HbVar.290 commonName Hb Monroe HbVar.290 alias Hb Kairouan HbVar.290 alias IVS-I (-1) or codon 30 (G->C); AG^GTTGGT->AC^GTTGGT beta0 HbVar.290 ethnic Black HbVar.290 ethnic Libyan HbVar.290 ethnic Tunisian HbVar.290 phenoCommon beta0 thalassemia HbVar.291 protEffect HBB 32(B13) Leu>Pro HbVar.291 commonName Hb Yokohama HbVar.291 ethnic Japanese HbVar.291 ethnic Serbian HbVar.291 ethnic Pakistani HbVar.291 phenoCommon Hemoglobin variant HbVar.292 protEffect HBB 32(B13) Leu>Arg HbVar.292 commonName Hb Hakkari HbVar.292 ethnic Turkish HbVar.292 ethnic Yugoslavian HbVar.292 phenoCommon Hemoglobin variant HbVar.293 protEffect HBB 33(B14) Leu>Pro HbVar.293 commonName Hb Perth HbVar.293 alias Hb Kobe HbVar.293 alias Hb Abraham Lincoln HbVar.293 ethnic Australian HbVar.293 ethnic Black HbVar.293 ethnic French HbVar.293 ethnic Hottentot HbVar.293 ethnic Taiwanese HbVar.293 phenoCommon Hemoglobin variant HbVar.294 protEffect HBB 33(B14) Leu>Arg HbVar.294 commonName Hb Castilla HbVar.294 ethnic Spanish HbVar.294 ethnic Asian Indian HbVar.294 phenoCommon Hemoglobin variant HbVar.295 protEffect HBB 33(B14) Leu>Val HbVar.295 commonName Hb Muscat HbVar.295 ethnic Arabian HbVar.295 phenoCommon Hemoglobin variant HbVar.296 protEffect HBB 35(B16) Val>Phe HbVar.296 commonName Hb Pitie-Salpetriere HbVar.296 ethnic Japanese HbVar.296 ethnic French HbVar.296 phenoCommon Hemoglobin variant HbVar.297 protEffect HBB 36(C1) Tyr>Phe HbVar.297 commonName Hb Philly HbVar.297 ethnic German HbVar.297 ethnic French HbVar.297 ethnic Italian HbVar.297 phenoCommon Hemoglobin variant HbVar.298 protEffect HBB 37(C2) Pro>Thr HbVar.298 commonName Hb Linkoping HbVar.298 alias Hb Meilahti HbVar.298 alias Hb Finlandia HbVar.298 ethnic Finnish HbVar.298 ethnic Dutch HbVar.298 phenoCommon Hemoglobin variant HbVar.299 protEffect HBB 37(C2) Pro>Ser HbVar.299 commonName Hb North Chicago HbVar.299 ethnic Black HbVar.299 phenoCommon Hemoglobin variant HbVar.300 protEffect HBB 37(C2) Pro>Arg HbVar.300 commonName Hb Sunnybrook HbVar.300 ethnic European HbVar.300 phenoCommon Hemoglobin variant HbVar.301 protEffect HBB 37(C2) Pro>His HbVar.301 commonName Hb Vila Real HbVar.301 ethnic Portuguese HbVar.301 phenoCommon Hemoglobin variant HbVar.302 protEffect HBB 38(C3) Trp>Ser HbVar.302 commonName Hb Hirose HbVar.302 ethnic Japanese HbVar.302 phenoCommon Hemoglobin variant HbVar.303 protEffect HBB 38(C3) Trp>Arg HbVar.303 commonName Hb Rothschild HbVar.303 ethnic Caucasian HbVar.303 phenoCommon Hemoglobin variant HbVar.304 protEffect HBB 38(C3) Trp>Gly HbVar.304 commonName Hb Howick HbVar.304 phenoCommon Hemoglobin variant HbVar.305 protEffect HBB 39(C4) Thr>Pro HbVar.305 commonName Hb Hazebrouck HbVar.305 ethnic French HbVar.305 phenoCommon Hemoglobin variant HbVar.306 protEffect HBB 39(C4) Thr>Asn HbVar.306 commonName Hb Hinwil HbVar.306 ethnic Swiss HbVar.306 phenoCommon Hemoglobin variant HbVar.307 protEffect HBB 40(C5) Gln>Lys HbVar.307 commonName Hb Alabama HbVar.307 ethnic Black HbVar.307 phenoCommon Hemoglobin variant HbVar.308 protEffect HBB 40(C5) Gln>Glu HbVar.308 commonName Hb Vaasa HbVar.308 ethnic Finnish HbVar.308 phenoCommon Hemoglobin variant HbVar.309 protEffect HBB 40(C5) Gln>Arg HbVar.309 commonName Hb Tianshui HbVar.309 ethnic Chinese HbVar.309 phenoCommon Hemoglobin variant HbVar.310 protEffect HBB 41(C6) Arg>Lys HbVar.310 commonName Hb Athens-GA HbVar.310 alias Hb Waco HbVar.310 ethnic Caucasian HbVar.310 phenoCommon Hemoglobin variant HbVar.311 protEffect HBB 41(C6) Arg>Ser HbVar.311 commonName Hb Austin HbVar.311 ethnic Mexican HbVar.311 phenoCommon Hemoglobin variant HbVar.312 protEffect HBB 42(C7) Phe>Tyr HbVar.312 commonName Hb Mequon HbVar.312 ethnic English HbVar.312 ethnic Irish HbVar.312 phenoCommon Hemoglobin variant HbVar.313 protEffect HBB 42(C7) Phe>Ser HbVar.313 commonName Hb Denver HbVar.313 ethnic Caucasian HbVar.313 phenoCommon Hemoglobin variant HbVar.314 protEffect HBB 43(CD1) Phe>Ser HbVar.314 commonName Hb Hammersmith HbVar.314 alias Hb Chiba HbVar.314 ethnic American Indian HbVar.314 ethnic Caucasian HbVar.314 ethnic African-American HbVar.314 ethnic English HbVar.314 ethnic Japanese HbVar.314 phenoCommon Hemoglobin variant HbVar.315 protEffect HBB 43(CD1) Phe>Leu HbVar.315 commonName Hb Louisville HbVar.315 alias Hb Bucuresti HbVar.315 ethnic English HbVar.315 ethnic Irish HbVar.315 ethnic Rumanian HbVar.315 ethnic Cuban HbVar.315 ethnic Canadian HbVar.315 phenoCommon Hemoglobin variant HbVar.316 protEffect HBB 43(CD1) Phe>Val HbVar.316 commonName Hb Sendagi HbVar.316 alias Hb Warsaw HbVar.316 ethnic Japanese HbVar.316 ethnic Polish HbVar.316 ethnic American HbVar.316 phenoCommon Hemoglobin variant HbVar.317 protEffect HBB 44(CD2) Glu>Ala HbVar.317 commonName Hb G-Galveston HbVar.317 alias Hb G-Port Arthur HbVar.317 alias Hb G-Texas HbVar.317 ethnic Black HbVar.317 phenoCommon Hemoglobin variant HbVar.318 protEffect HBB 44(CD2) Glu>Gln HbVar.318 commonName Hb Hoshida HbVar.318 alias Hb Chaya HbVar.318 ethnic Japanese HbVar.318 ethnic Yugoslavian HbVar.318 phenoCommon Hemoglobin variant HbVar.319 protEffect HBB 45(CD3) Ser>Cys HbVar.319 commonName Hb Mississippi HbVar.319 ethnic Chinese HbVar.319 phenoCommon Hemoglobin variant HbVar.320 protEffect HBB 46(CD4) Phe>Ser HbVar.320 commonName Hb Cheverly HbVar.320 ethnic Italian HbVar.320 ethnic Caucasian HbVar.320 phenoCommon Hemoglobin variant HbVar.321 protEffect HBB 46(CD4) Phe>Cys HbVar.321 commonName Hb Arta HbVar.321 ethnic Greek HbVar.321 phenoCommon Hemoglobin variant HbVar.322 protEffect HBB 47(CD5) Gly>Glu HbVar.322 commonName Hb K-Ibadan HbVar.322 ethnic African Yoruba HbVar.322 ethnic Italian HbVar.322 phenoCommon Hemoglobin variant HbVar.323 protEffect HBB 47(CD5) Gly>Arg HbVar.323 commonName Hb Gainesville-GA HbVar.323 ethnic Black HbVar.323 phenoCommon Hemoglobin variant HbVar.324 protEffect HBB 48(CD6) Asp>Asn HbVar.324 commonName Hb G-Copenhagen HbVar.324 ethnic Danish HbVar.324 ethnic Sicilian HbVar.324 ethnic Black HbVar.324 ethnic American HbVar.324 phenoCommon Hemoglobin variant HbVar.325 protEffect HBB 48(CD6) Asp>Gly HbVar.325 commonName Hb Gavello HbVar.325 ethnic Italian HbVar.325 phenoCommon Hemoglobin variant HbVar.326 protEffect HBB 48(CD6) Asp>Ala HbVar.326 commonName Hb Avicenna HbVar.326 ethnic Iranian HbVar.326 phenoCommon Hemoglobin variant HbVar.327 protEffect HBB 48(CD6) Asp>Tyr HbVar.327 commonName Hb Maputo HbVar.327 ethnic Mozambique HbVar.327 ethnic Caucasian HbVar.327 phenoCommon Hemoglobin variant HbVar.328 protEffect HBB 49(CD7) Leu>Arg HbVar.328 commonName Hb Okaloosa HbVar.328 ethnic Caucasian HbVar.328 phenoCommon Hemoglobin variant HbVar.329 protEffect HBB 49(CD7) Leu>Pro HbVar.329 commonName Hb Bab-Saadoun HbVar.329 ethnic Tunisian HbVar.329 phenoCommon Hemoglobin variant HbVar.330 protEffect HBB 50(CD8) Ser>Phe HbVar.330 commonName Hb Las Palmas HbVar.330 ethnic Canary Islands HbVar.330 phenoCommon Hemoglobin variant HbVar.331 protEffect HBB 51(D1) Thr>Lys HbVar.331 commonName Hb Edmonton HbVar.331 ethnic Ukrainian HbVar.331 phenoCommon Hemoglobin variant HbVar.332 protEffect HBB 52(D2) Pro>Arg HbVar.332 commonName Hb Willamette HbVar.332 ethnic Black HbVar.332 phenoCommon Hemoglobin variant HbVar.333 protEffect HBB 52(D2) Pro>His HbVar.333 commonName Hb North Manchester HbVar.333 phenoCommon Hemoglobin variant HbVar.334 protEffect HBB 53(D3) Asp>Asn HbVar.334 commonName Hb Osu Christiansborg HbVar.334 ethnic Black HbVar.334 ethnic Ghanaian HbVar.334 ethnic Greek HbVar.334 ethnic Iranian HbVar.334 phenoCommon Hemoglobin variant HbVar.335 protEffect HBB 53(D3) Asp>Ala HbVar.335 commonName Hb Ocho Rios HbVar.335 ethnic Jamaican HbVar.335 phenoCommon Hemoglobin variant HbVar.336 protEffect HBB 53(D3) Asp>His HbVar.336 commonName Hb Summer Hill HbVar.336 ethnic Lebanese HbVar.336 ethnic Turkish HbVar.336 phenoCommon Hemoglobin variant HbVar.337 protEffect HBB 53(D3) Asp>Gly HbVar.337 commonName Hb Hokusetsu HbVar.337 alias Hb Kurashiki-II HbVar.337 ethnic Japanese HbVar.337 ethnic German HbVar.337 phenoCommon Hemoglobin variant HbVar.338 protEffect HBB 53(D3) Asp>Val HbVar.338 commonName Hb Akron HbVar.338 ethnic American Indian HbVar.338 ethnic French HbVar.338 ethnic Polish HbVar.338 phenoCommon Hemoglobin variant HbVar.339 protEffect HBB 54(D4) Ala>Thr HbVar.339 commonName Hb Acharnes HbVar.339 ethnic Greek HbVar.339 phenoCommon Hemoglobin variant HbVar.340 protEffect HBB 55(D5) Val>Asp HbVar.340 commonName Hb Jacksonville HbVar.340 ethnic Black HbVar.340 phenoCommon Hemoglobin variant HbVar.341 protEffect HBB 56(D6) Met>Lys HbVar.341 commonName Hb Matera HbVar.341 ethnic Italian HbVar.341 phenoCommon Hemoglobin variant HbVar.342 protEffect HBB 57(D7) Gly>Asp HbVar.342 commonName Hb J-Bangkok HbVar.342 alias Hb J-Manado HbVar.342 alias Hb J-Meinung HbVar.342 alias Hb J-Korat HbVar.342 ethnic Black HbVar.342 ethnic Chinese HbVar.342 ethnic Indonesian HbVar.342 ethnic Thai HbVar.342 phenoCommon Hemoglobin variant HbVar.343 protEffect HBB 57(D7) Gly>Arg HbVar.343 commonName Hb Hamadan HbVar.343 ethnic Japanese HbVar.343 ethnic Iranian HbVar.343 ethnic French Caucasian HbVar.343 ethnic Turkish HbVar.343 phenoCommon Hemoglobin variant HbVar.344 protEffect HBB 58(E1) Asn>Lys HbVar.344 commonName Hb G-Ferrara HbVar.344 ethnic Italian HbVar.344 phenoCommon Hemoglobin variant HbVar.345 protEffect HBB 58(E1) Asn>Asp HbVar.345 commonName Hb J-Daloa HbVar.345 ethnic Bete tribe HbVar.345 phenoCommon Hemoglobin variant HbVar.346 protEffect HBB 59(E2) Pro>Arg HbVar.346 commonName Hb Dhofar HbVar.346 alias Hb Yukuhashi HbVar.346 ethnic Qara tribesman HbVar.346 phenoCommon Hemoglobin variant HbVar.347 protEffect HBB 60(E3) Lys>Glu HbVar.347 commonName Hb I-High Wycombe HbVar.347 ethnic English HbVar.347 ethnic German HbVar.347 ethnic Japanese HbVar.347 ethnic Scottish HbVar.347 phenoCommon Hemoglobin variant HbVar.348 protEffect HBB 60(E3) Lys>Thr HbVar.348 commonName Hb J-Kaohsiung HbVar.348 alias Hb J-Honolulu HbVar.348 ethnic Chinese HbVar.348 phenoCommon Hemoglobin variant HbVar.350 protEffect HBB 61(E4) Val>Leu HbVar.350 commonName Hb Yatsushiro HbVar.350 ethnic Japanese HbVar.350 phenoCommon Hemoglobin variant HbVar.351 protEffect HBB 61(E4) Val>Ala HbVar.351 commonName Hb Collingwood HbVar.351 ethnic Greek HbVar.351 phenoCommon Hemoglobin variant HbVar.352 protEffect HBB 61(E4) Val>Glu HbVar.352 commonName Hb Cagliari HbVar.352 alias Codon 60 (T->A); GTG(Val)->GAG(Glu) beta+ (abnormal betaX identified by IEF after labeling) HbVar.352 ethnic Italian HbVar.352 phenoCommon beta+ thalassemia HbVar.353 protEffect HBB 62(E5) Lys>Glu HbVar.353 commonName Hb N-Seattle HbVar.353 ethnic Black HbVar.353 phenoCommon Hemoglobin variant HbVar.354 protEffect HBB 62(E5) Lys>Asn HbVar.354 commonName Hb Hikari HbVar.354 ethnic Japanese HbVar.354 phenoCommon Hemoglobin variant HbVar.355 protEffect HBB 62(E5) Lys>Met HbVar.355 commonName Hb Bologna HbVar.355 ethnic North Italian HbVar.355 phenoCommon Hemoglobin variant HbVar.356 protEffect HBB 63(E6) Ala>Pro HbVar.356 commonName Hb Duarte HbVar.356 ethnic German HbVar.356 phenoCommon Hemoglobin variant HbVar.357 protEffect HBB 63(E6) Ala>Asp HbVar.357 commonName Hb J-Europa HbVar.357 ethnic Italian HbVar.357 phenoCommon Hemoglobin variant HbVar.358 protEffect HBB 64(E7) His>Arg HbVar.358 commonName Hb Zurich HbVar.358 ethnic Swiss HbVar.358 ethnic American HbVar.358 ethnic Japanese HbVar.358 phenoCommon Hemoglobin variant HbVar.359 protEffect HBB 64(E7) His>Tyr HbVar.359 commonName Hb M-Saskatoon HbVar.359 alias Hb M-Emory HbVar.359 alias Hb M-Kurume HbVar.359 alias Hb M-Radom HbVar.359 alias Hb M-Arhus HbVar.359 alias Hb Leipzig HbVar.359 alias Hb Horlein-Weber HbVar.359 alias Hb Novi Sad HbVar.359 alias Hb M-Erlangen HbVar.359 alias Hb M-Hamburg HbVar.359 alias Hb M-Hida HbVar.359 alias Hb M-Chicago HbVar.359 ethnic American HbVar.359 ethnic Japanese HbVar.359 ethnic English HbVar.359 ethnic Danish HbVar.359 ethnic Norwegian HbVar.359 ethnic Yugoslavian HbVar.359 ethnic Canadian HbVar.359 ethnic Polish HbVar.359 ethnic German HbVar.359 phenoCommon Hemoglobin variant HbVar.360 protEffect HBB 64(E7) His>Pro HbVar.360 commonName Hb Bicetre HbVar.360 ethnic American HbVar.360 ethnic French HbVar.360 phenoCommon Hemoglobin variant HbVar.361 protEffect HBB 64(E7) His>Asn HbVar.361 commonName Hb Hana HbVar.361 ethnic Czech HbVar.361 phenoCommon Hemoglobin variant HbVar.362 protEffect HBB 65(E8) Gly>Asp HbVar.362 commonName Hb J-Calabria HbVar.362 alias Hb J-Bari HbVar.362 alias Hb J-Cosenza HbVar.362 ethnic French HbVar.362 ethnic Chinese HbVar.362 phenoCommon Hemoglobin variant HbVar.363 protEffect HBB 66(E9) Lys>Asn HbVar.363 commonName Hb J-Sicilia HbVar.363 ethnic Sicilian HbVar.363 phenoCommon Hemoglobin variant HbVar.364 protEffect HBB 66(E9) Lys>Gln HbVar.364 commonName Hb J-Cairo HbVar.364 ethnic Egyptian HbVar.364 phenoCommon Hemoglobin variant HbVar.365 protEffect HBB 66(E9) Lys>Met HbVar.365 commonName Hb J-Antakya HbVar.365 ethnic Southern Turkish HbVar.365 phenoCommon Hemoglobin variant HbVar.366 protEffect HBB 67(E10) Lys>Glu HbVar.366 commonName Hb I-Toulouse HbVar.366 ethnic French HbVar.366 ethnic Nicaraguan HbVar.366 phenoCommon Hemoglobin variant HbVar.367 protEffect HBB 67(E10) Lys>Thr HbVar.367 commonName Hb Chico HbVar.367 ethnic American HbVar.367 phenoCommon Hemoglobin variant HbVar.368 protEffect HBB 68(E11) Val>Glu HbVar.368 commonName Hb M-Milwaukee-I HbVar.368 phenoCommon Hemoglobin variant HbVar.369 protEffect HBB 68(E11) Val>Met OR HBB 68(E11) Val>Asp HbVar.369 commonName Hb Bristol HbVar.369 alias Hb Bristol-Alesha HbVar.369 ethnic English HbVar.369 phenoCommon Hemoglobin variant HbVar.370 protEffect HBB 68(E11) Val>Met HbVar.370 commonName Hb Alesha HbVar.370 alias Hb Bristol-Alesha HbVar.370 ethnic Russian HbVar.370 phenoCommon Hemoglobin variant HbVar.371 protEffect HBB 68(E11) Val>Ala HbVar.371 commonName Hb Sydney HbVar.371 ethnic German HbVar.371 ethnic English HbVar.371 phenoCommon Hemoglobin variant HbVar.372 protEffect HBB 68(E11) Val>Gly HbVar.372 commonName Hb Manukau HbVar.372 ethnic Niuean HbVar.372 ethnic Maori HbVar.372 phenoCommon Hemoglobin variant HbVar.373 protEffect HBB 69(E12) Leu>Pro HbVar.373 commonName Hb Mizuho HbVar.373 ethnic Japanese HbVar.373 ethnic Italian HbVar.373 ethnic Caucasian HbVar.373 ethnic Dutch HbVar.373 phenoCommon Hemoglobin variant HbVar.374 protEffect HBB 69(E12) Leu>His HbVar.374 commonName Hb Brisbane HbVar.374 alias Hb Great Lakes HbVar.374 ethnic New Zealand HbVar.374 ethnic Caucasian HbVar.374 phenoCommon Hemoglobin variant HbVar.375 protEffect HBB 69(E12) Leu>Phe HbVar.375 commonName Hb Loves Park HbVar.375 ethnic Italian HbVar.375 phenoCommon Hemoglobin variant HbVar.376 protEffect HBB 70(E13) Gly>Asp HbVar.376 commonName Hb Rambam HbVar.376 alias Hb J-Cambridge HbVar.376 ethnic Argentine HbVar.376 ethnic Bedouin HbVar.376 ethnic English HbVar.376 ethnic German HbVar.376 phenoCommon Hemoglobin variant HbVar.377 protEffect HBB 70(E13) Gly>Ser HbVar.377 commonName Hb City of Hope HbVar.377 ethnic Caucasian HbVar.377 ethnic Italian HbVar.377 ethnic Turkish HbVar.377 ethnic Jewish HbVar.377 phenoCommon Hemoglobin variant HbVar.378 protEffect HBB 70(E13) Gly>Arg HbVar.378 commonName Hb Kenitra HbVar.378 ethnic Moroccan HbVar.378 phenoCommon Hemoglobin variant HbVar.379 protEffect HBB 71(E14) Ala>Asp HbVar.379 commonName Hb Seattle HbVar.379 ethnic Caucasian HbVar.379 ethnic Ukrainian HbVar.379 phenoCommon Hemoglobin variant HbVar.380 protEffect HBB 72(E15) Phe>Ser HbVar.380 commonName Hb Christchurch HbVar.380 ethnic Australian HbVar.380 ethnic Japanese HbVar.380 phenoCommon Hemoglobin variant HbVar.381 protEffect HBB 73(E16) Ser>Arg HbVar.381 commonName Hb Headington HbVar.381 ethnic Asian Indian HbVar.381 phenoCommon Hemoglobin variant HbVar.382 protEffect HBB 74(E17) Asp>Tyr HbVar.382 commonName Hb Vancouver HbVar.382 ethnic Chinese HbVar.382 phenoCommon Hemoglobin variant HbVar.383 protEffect HBB 74(E17) Asp>Asn HbVar.383 commonName Hb G-Accra HbVar.383 alias Hb Korle-Bu HbVar.383 ethnic Black HbVar.383 phenoCommon Hemoglobin variant HbVar.384 protEffect HBB 74(E17) Asp>Val HbVar.384 commonName Hb Mobile HbVar.384 ethnic Black HbVar.384 phenoCommon Hemoglobin variant HbVar.385 protEffect HBB 74(E17) Asp>Gly HbVar.385 commonName Hb Tilburg HbVar.385 ethnic Dutch HbVar.385 phenoCommon Hemoglobin variant HbVar.386 protEffect HBB 75(E18) Gly>Val HbVar.386 commonName Hb Bushwick HbVar.386 ethnic Italian HbVar.386 ethnic American HbVar.386 ethnic Japanese HbVar.386 ethnic Yugoslavian HbVar.386 ethnic Pakistani HbVar.386 phenoCommon Hemoglobin variant HbVar.386 phenoCommon severe Anemia HbVar.386 phenoCommon chronic Anemia HbVar.386 phenoCommon hemolytic Anemia HbVar.387 protEffect HBB 75(E18) Gly>Asp HbVar.387 commonName Hb Shepherds Bush HbVar.387 ethnic English HbVar.387 ethnic Sicilian HbVar.387 phenoCommon Hemoglobin variant HbVar.388 protEffect HBB 75(E18) Gly>Arg HbVar.388 commonName Hb Aalborg HbVar.388 phenoCommon Hemoglobin variant HbVar.389 protEffect HBB 76(E19) Leu>Pro HbVar.389 commonName Hb Atlanta HbVar.389 ethnic Caucasian HbVar.389 ethnic New Zealand HbVar.389 ethnic Dutch HbVar.389 phenoCommon Hemoglobin variant HbVar.390 protEffect HBB 76(E19) Leu>Arg HbVar.390 commonName Hb Pasadena HbVar.390 ethnic French HbVar.390 phenoCommon Hemoglobin variant HbVar.391 protEffect HBB 77(E20) Ala>Asp HbVar.391 commonName Hb J-Chicago HbVar.391 ethnic Black HbVar.391 ethnic Spanish HbVar.391 phenoCommon Hemoglobin variant HbVar.392 protEffect HBB 77(E20) Ala>Pro HbVar.392 commonName Hb Calais HbVar.392 ethnic French HbVar.392 phenoCommon Hemoglobin variant HbVar.393 protEffect HBB 78(EF1) His>Asp HbVar.393 commonName Hb J-Iran HbVar.393 ethnic Iranian HbVar.393 ethnic Turkish HbVar.393 phenoCommon Hemoglobin variant HbVar.394 protEffect HBB 78(EF1) His>Tyr HbVar.394 commonName Hb Fukuyama HbVar.394 ethnic Japanese HbVar.394 ethnic Caucasian HbVar.394 ethnic Indonesian HbVar.394 ethnic Swedish HbVar.394 phenoCommon Hemoglobin variant HbVar.395 protEffect HBB 78(EF1) His>Arg HbVar.395 commonName Hb Costa Rica HbVar.395 ethnic Costa Rican HbVar.395 phenoCommon Hemoglobin variant HbVar.396 protEffect HBB 78(EF1) His>Gln HbVar.396 commonName Hb Vienna HbVar.396 ethnic Austrian HbVar.396 phenoCommon Hemoglobin variant HbVar.397 protEffect HBB 79(EF2) Leu>Arg HbVar.397 commonName Hb Quin-Hai HbVar.397 ethnic Chinese HbVar.397 phenoCommon Hemoglobin variant HbVar.398 protEffect HBB 80(EF3) Asp>Gly HbVar.398 commonName Hb G-Hsi-Tsou HbVar.398 ethnic Chinese HbVar.398 ethnic Greek HbVar.398 phenoCommon Hemoglobin variant HbVar.399 protEffect HBB 80(EF3) Asp>Tyr HbVar.399 commonName Hb Tampa HbVar.399 ethnic Caucasian HbVar.399 phenoCommon Hemoglobin variant HbVar.399 phenoCommon Normal HbVar.400 protEffect HBB 80(EF3) Asp>His HbVar.400 commonName Hb Tigraye HbVar.400 ethnic Sardinian HbVar.400 ethnic Ethiopian HbVar.400 phenoCommon Hemoglobin variant HbVar.401 protEffect HBB 80(EF3) Asp>Asn HbVar.401 commonName Hb Yaizu HbVar.401 ethnic Japanese HbVar.401 phenoCommon Hemoglobin variant HbVar.402 protEffect HBB 81(EF4) Asn>Lys HbVar.402 commonName Hb G-Szuhu HbVar.402 alias Hb Gifu HbVar.402 ethnic Chinese HbVar.402 ethnic Japanese HbVar.402 ethnic Jewish HbVar.402 ethnic English HbVar.402 ethnic Spanish HbVar.402 ethnic Sicilian HbVar.402 phenoCommon Hemoglobin variant HbVar.403 protEffect HBB 82(EF5) Leu>Arg HbVar.403 commonName Hb Baylor HbVar.403 ethnic Italian HbVar.403 ethnic Irish HbVar.403 phenoCommon Hemoglobin variant HbVar.404 protEffect HBB 82(EF5) Leu>His HbVar.404 commonName Hb La Roche-sur-Yon HbVar.404 ethnic Portuguese HbVar.404 phenoCommon Hemoglobin variant HbVar.405 protEffect HBB 83(EF6) Lys>Asn HbVar.405 commonName Hb Providence HbVar.405 ethnic Black HbVar.405 ethnic Japanese HbVar.405 phenoCommon Hemoglobin variant HbVar.406 protEffect HBB 83(EF6) Lys>Thr HbVar.406 commonName Hb Rahere HbVar.406 ethnic English HbVar.406 ethnic Japanese HbVar.406 phenoCommon Hemoglobin variant HbVar.407 protEffect HBB 83(EF6) Lys>Met HbVar.407 commonName Hb Helsinki HbVar.407 ethnic Finnish HbVar.407 phenoCommon Hemoglobin variant HbVar.408 protEffect HBB 83(EF6) Lys>Gln HbVar.408 commonName Hb Tsurumai HbVar.408 ethnic Japanese HbVar.408 phenoCommon Hemoglobin variant HbVar.409 protEffect HBB 83(EF6) Lys>Glu HbVar.409 commonName Hb Gambara HbVar.409 ethnic Italian HbVar.409 phenoCommon Hemoglobin variant HbVar.410 protEffect HBB 84(EF7) Gly>Cys HbVar.410 commonName Hb Ta-Li HbVar.410 ethnic Chinese HbVar.410 phenoCommon Hemoglobin variant HbVar.411 protEffect HBB 84(EF7) Gly>Asp HbVar.411 commonName Hb Pyrgos HbVar.411 alias Hb Mizunami HbVar.411 ethnic African HbVar.411 ethnic Greek HbVar.411 ethnic Italian HbVar.411 ethnic Japanese HbVar.411 ethnic Thai HbVar.411 phenoCommon Hemoglobin variant HbVar.412 protEffect HBB 84(EF7) Gly>Arg HbVar.412 commonName Hb Muskegon HbVar.412 ethnic American HbVar.412 phenoCommon Hemoglobin variant HbVar.413 protEffect HBB 85(EF8) Thr>Ile HbVar.413 commonName Hb Kofu HbVar.413 ethnic Japanese HbVar.413 phenoCommon Hemoglobin variant HbVar.414 protEffect HBB 86(F1) Phe>Ser HbVar.414 commonName Hb Buenos Aires HbVar.414 alias Hb Bryn Mawr HbVar.414 ethnic Argentine HbVar.414 ethnic Japanese HbVar.414 ethnic Caucasian HbVar.414 phenoCommon Hemoglobin variant HbVar.415 protEffect HBB 87(F2) Ala>Asp HbVar.415 commonName Hb Olomouc HbVar.415 ethnic Czech HbVar.415 ethnic Japanese HbVar.415 ethnic American HbVar.415 phenoCommon Hemoglobin variant HbVar.416 protEffect HBB 88(F3) Thr>Lys HbVar.416 commonName Hb D-Ibadan HbVar.416 ethnic Nigerian HbVar.416 ethnic Black HbVar.416 phenoCommon Hemoglobin variant HbVar.417 protEffect HBB 88(F3) Thr>Pro HbVar.417 commonName Hb Valletta HbVar.417 ethnic Italian HbVar.417 ethnic Maltese HbVar.417 phenoCommon Hemoglobin variant HbVar.418 protEffect HBB 88(F3) Thr>Ile HbVar.418 commonName Hb Quebec-Chori HbVar.418 ethnic English HbVar.418 ethnic French HbVar.418 ethnic Canadian HbVar.418 ethnic Irish HbVar.418 ethnic Ghanaian HbVar.418 phenoCommon Hemoglobin variant HbVar.419 protEffect HBB 89(F4) Leu>Arg HbVar.419 commonName Hb Boras HbVar.419 ethnic Swedish HbVar.419 ethnic South African HbVar.419 phenoCommon Hemoglobin variant HbVar.420 protEffect HBB 89(F4) Leu>Pro HbVar.420 commonName Hb Santa Ana HbVar.420 ethnic Caucasian HbVar.420 ethnic Hungarian HbVar.420 ethnic French HbVar.420 ethnic Japanese HbVar.420 ethnic American HbVar.420 phenoCommon Hemoglobin variant HbVar.421 protEffect HBB 90(F5) Ser>Asn HbVar.421 commonName Hb Creteil HbVar.421 ethnic French HbVar.421 phenoCommon Hemoglobin variant HbVar.422 protEffect HBB 90(F5) Ser>Arg HbVar.422 commonName Hb Vanderbilt HbVar.422 ethnic Caucasian HbVar.422 phenoCommon Hemoglobin variant HbVar.423 protEffect HBB 90(F5) Ser>Thr HbVar.423 commonName Hb Villaverde HbVar.423 ethnic Spanish HbVar.423 phenoCommon Hemoglobin variant HbVar.424 protEffect HBB 91(F6) Glu>Lys HbVar.424 commonName Hb Agenogi HbVar.424 ethnic African-American HbVar.424 ethnic Hungarian HbVar.424 ethnic Italian HbVar.424 ethnic Japanese HbVar.424 phenoCommon Hemoglobin variant HbVar.425 protEffect HBB 91(F6) Glu>Gly HbVar.425 commonName Hb Roseau-Pointe a Pitre HbVar.425 ethnic Dominican HbVar.425 phenoCommon Hemoglobin variant HbVar.426 protEffect HBB 91(F6) Glu>Asp HbVar.426 commonName Hb Pierre-Benite HbVar.426 ethnic Caucasian HbVar.426 phenoCommon Hemoglobin variant HbVar.427 protEffect HBB 92(F7) Leu>Pro HbVar.427 commonName Hb Sabine HbVar.427 ethnic Scottish HbVar.427 ethnic English HbVar.427 ethnic German HbVar.427 ethnic Yugoslavian HbVar.427 phenoCommon Hemoglobin variant HbVar.428 protEffect HBB 92(F7) Leu>Arg HbVar.428 commonName Hb Caribbean HbVar.428 ethnic Jamaican HbVar.428 ethnic Canadian HbVar.428 phenoCommon Hemoglobin variant HbVar.429 protEffect HBB 93(F8) His>Arg HbVar.429 commonName Hb Mozhaisk HbVar.429 ethnic Russian HbVar.429 phenoCommon Hemoglobin variant HbVar.430 protEffect HBB 93(F8) His>Tyr HbVar.430 commonName Hb M-Milwaukee-2 HbVar.430 alias Hb M-Hyde Park HbVar.430 alias Hb M-Akita HbVar.430 ethnic Swiss HbVar.430 ethnic Black HbVar.430 ethnic Japanese HbVar.430 ethnic Yugoslavian HbVar.430 ethnic Norwegian HbVar.430 ethnic German HbVar.430 phenoCommon Hemoglobin variant HbVar.431 protEffect HBB 93(F8) His>Pro HbVar.431 commonName Hb Newcastle HbVar.431 ethnic English HbVar.431 ethnic Russian HbVar.431 phenoCommon Hemoglobin variant HbVar.432 protEffect HBB 93(F8) His>Gln HbVar.432 commonName Hb Saint Etienne HbVar.432 alias Hb Istanbul HbVar.432 ethnic Argentine HbVar.432 ethnic French HbVar.432 ethnic Turkish HbVar.432 phenoCommon Hemoglobin variant HbVar.433 protEffect HBB 93(F8) His>Asp HbVar.433 commonName Hb J-Altgeld Gardens HbVar.433 ethnic Black HbVar.433 phenoCommon Hemoglobin variant HbVar.434 protEffect HBB 93(F8) His>Asn HbVar.434 commonName Hb Redondo HbVar.434 alias Hb Isehara HbVar.434 ethnic Japanese HbVar.434 ethnic Portuguese HbVar.434 phenoCommon Hemoglobin variant HbVar.435 protEffect HBB 94(F9) Cys>Arg HbVar.435 commonName Hb Okazaki HbVar.435 ethnic Japanese HbVar.435 phenoCommon Hemoglobin variant HbVar.436 protEffect HBB 95(FG1) Asp>His HbVar.436 commonName Hb Barcelona HbVar.436 ethnic Spanish HbVar.436 phenoCommon Hemoglobin variant HbVar.437 protEffect HBB 95(FG1) Asp>Asn HbVar.437 commonName Hb Bunbury HbVar.437 ethnic Italian HbVar.437 ethnic Caucasian HbVar.437 ethnic Mexican HbVar.437 ethnic American HbVar.437 phenoCommon Hemoglobin variant HbVar.438 protEffect HBB 95(FG1) Asp>Gly HbVar.438 commonName Hb Chandigarh HbVar.438 ethnic Indian HbVar.438 phenoCommon Hemoglobin variant HbVar.439 protEffect HBB 96(FG2) Lys>Glu HbVar.439 commonName Hb N-Baltimore HbVar.439 alias Hb Hopkins-I HbVar.439 alias Hb Jenkins HbVar.439 alias Hb N-Memphis HbVar.439 alias Hb Kenwood HbVar.439 ethnic Black HbVar.439 phenoCommon Hemoglobin variant HbVar.440 protEffect HBB 96(FG2) Lys>Met HbVar.440 commonName Hb J-Cordoba HbVar.440 ethnic Argentine HbVar.440 phenoCommon Hemoglobin variant HbVar.441 protEffect HBB 96(FG2) Lys>Asn HbVar.441 commonName Hb Detroit HbVar.441 ethnic Indian HbVar.441 phenoCommon Hemoglobin variant HbVar.442 protEffect HBB 97(FG3) Leu>Val HbVar.442 commonName Hb Regina HbVar.442 ethnic Scandinavian HbVar.442 phenoCommon Hemoglobin variant HbVar.443 protEffect HBB 97(FG3) Leu>Pro HbVar.443 commonName Hb Debrousse HbVar.443 ethnic Italian HbVar.443 ethnic French HbVar.443 phenoCommon Hemoglobin variant HbVar.444 protEffect HBB 98(FG4) His>Gln HbVar.444 commonName Hb Malmo HbVar.444 ethnic Swedish HbVar.444 ethnic Dutch HbVar.444 ethnic German HbVar.444 ethnic English HbVar.444 ethnic American HbVar.444 phenoCommon Hemoglobin variant HbVar.445 protEffect HBB 98(FG4) His>Leu HbVar.445 commonName Hb Wood HbVar.445 ethnic Swedish HbVar.445 ethnic Norwegian HbVar.445 phenoCommon Hemoglobin variant HbVar.446 protEffect HBB 98(FG4) His>Pro HbVar.446 commonName Hb Nagoya HbVar.446 ethnic Japanese HbVar.446 phenoCommon Hemoglobin variant HbVar.447 protEffect HBB 98(FG4) His>Tyr HbVar.447 commonName Hb Moriguchi HbVar.447 ethnic Japanese HbVar.447 phenoCommon Hemoglobin variant HbVar.448 protEffect HBB 99(FG5) Val>Met HbVar.448 commonName Hb Koln HbVar.448 alias Hb San Francisco (Pacific) HbVar.448 alias Hb Ube-1 HbVar.448 phenoCommon Hemoglobin variant HbVar.449 protEffect HBB 99(FG5) Val>Gly HbVar.449 commonName Hb Nottingham HbVar.449 ethnic English HbVar.449 ethnic Caucasian HbVar.449 ethnic Canadian HbVar.449 ethnic Japanese HbVar.449 phenoCommon Hemoglobin variant HbVar.450 protEffect HBB 99(FG5) Val>Ala HbVar.450 commonName Hb Djelfa HbVar.450 ethnic Caucasian HbVar.450 phenoCommon Hemoglobin variant HbVar.451 protEffect HBB 99(FG5) Val>Glu HbVar.451 commonName Hb Mainz HbVar.451 ethnic German HbVar.451 phenoCommon Hemoglobin variant HbVar.452 protEffect HBB 100(G1) Asp>Asn HbVar.452 commonName Hb Kempsey HbVar.452 ethnic Irish HbVar.452 ethnic French HbVar.452 ethnic Black HbVar.452 phenoCommon Hemoglobin variant HbVar.453 protEffect HBB 100(G1) Asp>His HbVar.453 commonName Hb Yakima HbVar.453 ethnic Caucasian HbVar.453 phenoCommon Hemoglobin variant HbVar.454 protEffect HBB 100(G1) Asp>Ala HbVar.454 commonName Hb Radcliffe HbVar.454 ethnic English HbVar.454 phenoCommon Hemoglobin variant HbVar.455 protEffect HBB 100(G1) Asp>Tyr HbVar.455 commonName Hb Ypsilanti (or Hb Ypsi) HbVar.455 ethnic Black HbVar.455 phenoCommon Hemoglobin variant HbVar.456 protEffect HBB 100(G1) Asp>Gly HbVar.456 commonName Hb Hotel-Dieu HbVar.456 ethnic Puerto Rican HbVar.456 ethnic French Caucasian HbVar.456 phenoCommon Hemoglobin variant HbVar.457 protEffect HBB 100(G1) Asp>Val HbVar.457 commonName Hb Chemilly HbVar.457 ethnic French Caucasian HbVar.457 phenoCommon Hemoglobin variant HbVar.458 protEffect HBB 100(G1) Asp>Glu HbVar.458 commonName Hb Coimbra HbVar.458 alias Hb Ingelheim HbVar.458 ethnic German HbVar.458 ethnic American HbVar.458 ethnic Portuguese HbVar.458 phenoCommon Hemoglobin variant HbVar.459 protEffect HBB 101(G2) Pro>Leu HbVar.459 commonName Hb Brigham HbVar.459 phenoCommon Hemoglobin variant HbVar.460 protEffect HBB 101(G2) Pro>Arg HbVar.460 commonName Hb New Mexico HbVar.460 ethnic Black HbVar.460 phenoCommon Hemoglobin variant HbVar.461 protEffect HBB 102(G3) Glu>Lys HbVar.461 commonName Hb British Columbia HbVar.461 ethnic East Indian HbVar.461 ethnic Caucasian HbVar.461 phenoCommon Hemoglobin variant HbVar.462 protEffect HBB 102(G3) Glu>Gln HbVar.462 commonName Hb Rush HbVar.462 ethnic Black HbVar.462 phenoCommon Hemoglobin variant HbVar.463 protEffect HBB 102(G3) Glu>Gly HbVar.463 commonName Hb Alberta HbVar.463 ethnic Caucasian HbVar.463 phenoCommon Hemoglobin variant HbVar.464 protEffect HBB 102(G3) Glu>Asp HbVar.464 commonName Hb Potomac HbVar.464 ethnic Caucasian HbVar.464 phenoCommon Hemoglobin variant HbVar.465 protEffect HBB 103(G4) Asn>Lys HbVar.465 commonName Hb Richmond HbVar.465 ethnic Black HbVar.465 phenoCommon Hemoglobin variant HbVar.466 protEffect HBB 103(G4) Asn>Thr HbVar.466 commonName Hb Kansas HbVar.466 ethnic Caucasian HbVar.466 ethnic Japanese HbVar.466 phenoCommon Hemoglobin variant HbVar.467 protEffect HBB 103(G4) Asn>Ser HbVar.467 commonName Hb Beth Israel HbVar.467 ethnic Italian HbVar.467 ethnic Yugoslavian HbVar.467 phenoCommon Hemoglobin variant HbVar.468 protEffect HBB 103(G4) Asn>Tyr HbVar.468 commonName Hb Saint Mande HbVar.468 ethnic French HbVar.468 phenoCommon Hemoglobin variant HbVar.469 protEffect HBB 104(G5) Phe>Leu HbVar.469 commonName Hb Heathrow HbVar.469 ethnic English HbVar.469 ethnic Australian HbVar.469 phenoCommon Hemoglobin variant HbVar.470 protEffect HBB 104(G5) Phe>Ile HbVar.470 commonName Hb Saint Nazaire HbVar.470 ethnic French HbVar.470 phenoCommon Hemoglobin variant HbVar.471 protEffect HBB 105(G6) Arg>Ser HbVar.471 commonName Hb Camperdown HbVar.471 ethnic Maltese HbVar.471 phenoCommon Hemoglobin variant HbVar.472 protEffect HBB 105(G6) Arg>Thr HbVar.472 commonName Hb Sherwood Forest HbVar.472 ethnic Kashmiri Muslim HbVar.472 phenoCommon Hemoglobin variant HbVar.473 protEffect HBB 105(G6) Arg>Lys HbVar.473 commonName Hb Alzette HbVar.473 ethnic Luxembourg HbVar.473 phenoCommon Hemoglobin variant HbVar.474 protEffect HBB 106(G7) Leu>Phe HbVar.474 commonName Hb South Milwaukee HbVar.474 ethnic English HbVar.474 phenoCommon Hemoglobin variant HbVar.475 protEffect HBB 107(G8) Leu>Pro HbVar.475 commonName Hb Southampton HbVar.475 alias Hb Casper HbVar.475 ethnic Argentine HbVar.475 ethnic Caucasian HbVar.475 ethnic English HbVar.475 phenoCommon Hemoglobin variant HbVar.476 protEffect HBB 107(G8) Leu>Gln HbVar.476 commonName Hb Tubingen HbVar.476 ethnic German HbVar.476 ethnic Belgian HbVar.476 phenoCommon Hemoglobin variant HbVar.477 protEffect HBB 107(G8) Leu>Arg HbVar.477 commonName Hb Terre Haute HbVar.477 phenoCommon Hemoglobin variant HbVar.478 protEffect HBB 108(G9) Gly>Arg HbVar.478 commonName Hb Burke HbVar.478 ethnic Caucasian HbVar.478 ethnic Japanese HbVar.478 phenoCommon Hemoglobin variant HbVar.479 protEffect HBB 108(G9) Gly>Asp HbVar.479 commonName Hb Lulu Island HbVar.479 ethnic East Indian HbVar.479 phenoCommon Hemoglobin variant HbVar.480 protEffect HBB 109(G10) Asn>Asp HbVar.480 commonName Hb Yoshizuka HbVar.480 ethnic Japanese HbVar.480 phenoCommon Hemoglobin variant HbVar.481 protEffect HBB 109(G10) Asn>Lys HbVar.481 commonName Hb Presbyterian HbVar.481 ethnic American HbVar.481 ethnic German HbVar.481 ethnic Spanish HbVar.481 phenoCommon Hemoglobin variant HbVar.482 protEffect HBB 109(G10) Asn>His HbVar.482 commonName Hb Shizuoka HbVar.482 ethnic Japanese HbVar.482 phenoCommon Hemoglobin variant HbVar.483 protEffect HBB 110(G11) Val>Met HbVar.483 commonName Hb San Diego HbVar.483 ethnic Philippine HbVar.483 ethnic Anglo-Saxon HbVar.483 ethnic Japanese HbVar.483 ethnic West Indian HbVar.483 ethnic Caucasian HbVar.483 phenoCommon Hemoglobin variant HbVar.484 protEffect HBB 110(G11) Val>Leu HbVar.484 commonName Hb Johnstown HbVar.484 ethnic Caucasian HbVar.484 ethnic Spanish HbVar.484 phenoCommon Hemoglobin variant HbVar.485 protEffect HBB 111(G12) Leu>Pro HbVar.485 commonName Hb Showa-Yakushiji HbVar.485 alias Codon 110 (T->C); CTG(Leu)->CCG(Pro) beta+ HbVar.485 ethnic United Arab Emirates HbVar.485 ethnic Japanese HbVar.485 phenoCommon beta+ thalassemia HbVar.486 protEffect HBB 112(G13) Val>Phe HbVar.486 commonName Hb Peterborough HbVar.486 ethnic Italian HbVar.486 phenoCommon Hemoglobin variant HbVar.487 protEffect HBB 112(G13) Val>Ala HbVar.487 commonName Hb Stanmore HbVar.487 ethnic Japanese HbVar.487 ethnic Italian HbVar.487 phenoCommon Hemoglobin variant HbVar.488 protEffect HBB 113(G14) Cys>Arg HbVar.488 commonName Hb Indianapolis HbVar.488 ethnic Spanish HbVar.488 phenoCommon Hemoglobin variant HbVar.489 protEffect HBB 113(G14) Cys>Tyr HbVar.489 commonName Hb Yahata HbVar.489 ethnic Japanese HbVar.489 phenoCommon Hemoglobin variant HbVar.490 protEffect HBB 113(G14) Cys>Trp HbVar.490 commonName Hb Toranomon HbVar.490 ethnic Japanese HbVar.490 phenoCommon Hemoglobin variant HbVar.491 protEffect HBB 114(G15) Val>Glu HbVar.491 commonName Hb New York HbVar.491 alias Hb Kaohsiung HbVar.491 ethnic American HbVar.491 ethnic Chinese HbVar.491 phenoCommon Hemoglobin variant HbVar.492 protEffect HBB 115(G16) Leu>Met HbVar.492 commonName Hb Zengcheng HbVar.492 ethnic Chinese HbVar.492 phenoCommon Hemoglobin variant HbVar.493 protEffect HBB 115(G16) Leu>Pro HbVar.493 commonName Hb Durham-N.C. HbVar.493 alias Codon 114 (T->C); CTG(Leu)->CCG(Pro) beta0 HbVar.493 alias Hb Brescia HbVar.493 ethnic Russian HbVar.493 ethnic Irish HbVar.493 ethnic Italian HbVar.493 phenoCommon Thalassemia HbVar.494 protEffect HBB 116(G17) Ala>Pro HbVar.494 commonName Hb Madrid HbVar.494 ethnic Black HbVar.494 ethnic Korean HbVar.494 ethnic Spanish HbVar.494 phenoCommon Hemoglobin variant HbVar.495 protEffect HBB 116(G17) Ala>Asp HbVar.495 commonName Hb Hradec Kralove (or Hb HK) HbVar.495 alias Codon 115 (C->A); GCC(Ala)->GAC(Asp) beta+ (dominant beta-thal trait) HbVar.495 ethnic Czech HbVar.495 phenoCommon beta+ thalassemia HbVar.496 protEffect HBB 117(G18) His>Gln HbVar.496 commonName Hb Hafnia HbVar.496 ethnic Danish HbVar.496 phenoCommon Hemoglobin variant HbVar.497 protEffect HBB 118(G19) His>Arg HbVar.497 commonName Hb P-Galveston HbVar.497 ethnic Black HbVar.497 phenoCommon Hemoglobin variant HbVar.498 protEffect HBB 118(G19) His>Pro HbVar.498 commonName Hb Saitama HbVar.498 ethnic Japanese HbVar.498 phenoCommon Hemoglobin variant HbVar.499 protEffect HBB 118(G19) His>Tyr HbVar.499 commonName Hb Tsukumi HbVar.499 ethnic Japanese HbVar.499 ethnic Moroccan HbVar.499 phenoCommon Hemoglobin variant HbVar.500 protEffect HBB 118(G19) His>Asn HbVar.500 commonName Hb Brent HbVar.500 ethnic Bosnian HbVar.500 phenoCommon Hemoglobin variant HbVar.501 protEffect HBB 119(GH1) Phe>Tyr HbVar.501 commonName Hb Minneapolis-Laos HbVar.501 ethnic Laotian HbVar.501 ethnic Cambodian HbVar.501 phenoCommon Hemoglobin variant HbVar.502 protEffect HBB 112(G13) Val>Leu AND HBB 120(GH2) Gly>Asp HbVar.502 commonName Hb Fannin-Lubbock II HbVar.502 ethnic Mexican HbVar.502 ethnic American HbVar.502 ethnic Spanish HbVar.502 phenoCommon Hemoglobin variant HbVar.503 protEffect HBB 120(GH2) Gly>Val HbVar.503 commonName Hb Bougardirey-Mali HbVar.503 ethnic African HbVar.503 phenoCommon Hemoglobin variant HbVar.504 protEffect HBB 120(GH2) Gly>Ala HbVar.504 commonName Hb Iowa HbVar.504 phenoCommon Hemoglobin variant HbVar.505 protEffect HBB 121(GH3) Lys>Glu HbVar.505 commonName Hb Hijiyama HbVar.505 ethnic Japanese HbVar.505 ethnic Finnish HbVar.505 phenoCommon Hemoglobin variant HbVar.506 protEffect HBB 121(GH3) Lys>Asn HbVar.506 commonName Hb Riyadh HbVar.506 alias Hb Karatsu HbVar.506 ethnic Saudi Arabian HbVar.506 ethnic Mexican HbVar.506 ethnic Spanish HbVar.506 ethnic Asian Indian HbVar.506 ethnic Japanese HbVar.506 phenoCommon Hemoglobin variant HbVar.507 protEffect HBB 121(GH3) Lys>Gln HbVar.507 commonName Hb Takamatsu HbVar.507 ethnic Japanese HbVar.507 phenoCommon Hemoglobin variant HbVar.508 protEffect HBB 121(GH3) Lys>Ile HbVar.508 commonName Hb Jianghua HbVar.508 ethnic Chinese HbVar.508 phenoCommon Hemoglobin variant HbVar.509 protEffect HBB 122(GH4) Glu>Gln HbVar.509 commonName Hb D-Los Angeles HbVar.509 alias Hb D-Punjab HbVar.509 alias Hb D-North Carolina HbVar.509 alias Hb D-Portugal HbVar.509 alias Hb Oak Ridge HbVar.509 alias Hb D-Chicago HbVar.509 ethnic Chinese HbVar.509 ethnic Australian HbVar.509 ethnic Dutch HbVar.509 ethnic English HbVar.509 ethnic Greek HbVar.509 ethnic Northwestern Indian HbVar.509 ethnic Pakistani HbVar.509 ethnic Turkish HbVar.509 ethnic Yugoslavian HbVar.509 phenoCommon Hemoglobin variant HbVar.509 phenoCommon Normal HbVar.510 protEffect HBB 122(GH4) Glu>Lys HbVar.510 commonName Hb O-Arab HbVar.510 alias Hb Egypt HbVar.510 alias Hb O-Thrace HbVar.510 ethnic Arabian HbVar.510 ethnic Egyptian HbVar.510 ethnic African-American HbVar.510 ethnic Gypsy HbVar.510 ethnic Pomak HbVar.510 phenoCommon Hemoglobin variant HbVar.510 phenoCommon Microcytosis HbVar.510 phenoCommon mild Anemia HbVar.511 protEffect HBB 122(GH4) Glu>Gly HbVar.511 commonName Hb St. Francis HbVar.511 ethnic Caucasian HbVar.511 phenoCommon Hemoglobin variant HbVar.512 protEffect HBB 122(GH4) Glu>Val HbVar.512 commonName Hb Beograd HbVar.512 alias Hb D-Camperdown HbVar.512 ethnic Yugoslavian HbVar.512 ethnic Turkish HbVar.512 phenoCommon Hemoglobin variant HbVar.513 protEffect HBB 122(GH4) Glu>Ala HbVar.513 commonName Hb D-Neath HbVar.513 ethnic Caucasian HbVar.513 phenoCommon Hemoglobin variant HbVar.514 protEffect HBB 124(H1) Thr>Ile HbVar.514 commonName Hb Villejuif HbVar.514 ethnic French HbVar.514 phenoCommon Hemoglobin variant HbVar.515 protEffect HBB 125(H2) Pro>Arg HbVar.515 commonName Hb Khartoum HbVar.515 ethnic Khartoum HbVar.515 phenoCommon Hemoglobin variant HbVar.516 protEffect HBB 125(H2) Pro>Gln HbVar.516 commonName Hb Ty Gard HbVar.516 ethnic French HbVar.516 phenoCommon Hemoglobin variant HbVar.517 protEffect HBB 125(H2) Pro>Ser HbVar.517 commonName Hb Tunis HbVar.517 ethnic Tunisian HbVar.517 phenoCommon Hemoglobin variant HbVar.518 protEffect HBB 125(H2) Pro>Leu HbVar.518 commonName Hb Tende HbVar.518 ethnic French HbVar.518 phenoCommon Hemoglobin variant HbVar.519 protEffect HBB 127(H4) Val>Glu HbVar.519 commonName Hb Hofu HbVar.519 ethnic Japanese HbVar.519 ethnic Indian HbVar.519 ethnic Black HbVar.519 ethnic Spanish HbVar.519 phenoCommon Hemoglobin variant HbVar.520 protEffect HBB 127(H4) Val>Ala HbVar.520 commonName Hb Beirut HbVar.520 ethnic Lebanese HbVar.520 phenoCommon Hemoglobin variant HbVar.521 protEffect HBB 127(H4) Val>Gly HbVar.521 commonName Hb Dhonburi HbVar.521 alias Hb Neapolis HbVar.521 alias Codon 126 (T->G); GTG(Val)->GGG(Gly) Mild beta-thal trait HbVar.521 ethnic Thai HbVar.521 ethnic Italian HbVar.521 ethnic German HbVar.521 phenoCommon beta0 thalassemia HbVar.522 protEffect HBB 128(H5) Gln>Glu HbVar.522 commonName Hb Complutense HbVar.522 ethnic Spanish HbVar.522 phenoCommon Hemoglobin variant HbVar.523 protEffect HBB 128(H5) Gln>Lys HbVar.523 commonName Hb Brest HbVar.523 ethnic French HbVar.523 phenoCommon Hemoglobin variant HbVar.524 protEffect HBB 128(H5) Gln>Arg HbVar.524 commonName Hb Dieppe HbVar.524 ethnic French HbVar.524 phenoCommon Hemoglobin variant HbVar.525 protEffect HBB 129(H6) Ala>Asp HbVar.525 commonName Hb J-Guantanamo HbVar.525 ethnic Cuban HbVar.525 ethnic Chinese HbVar.525 ethnic Japanese HbVar.525 ethnic Chilean HbVar.525 ethnic Benin HbVar.525 phenoCommon Hemoglobin variant HbVar.526 protEffect HBB 129(H6) Ala>Pro HbVar.526 commonName Hb Mont Saint Aignan HbVar.526 ethnic French Caucasian HbVar.526 phenoCommon Hemoglobin variant HbVar.527 protEffect HBB 129(H6) Ala>Val HbVar.527 commonName Hb Sitia HbVar.527 ethnic Greek HbVar.527 phenoCommon Hemoglobin variant HbVar.528 protEffect HBB 130(H7) Ala>Asp HbVar.528 commonName Hb J-Taichung HbVar.528 ethnic Chinese HbVar.528 phenoCommon Hemoglobin variant HbVar.529 protEffect HBB 130(H7) Ala>Asp OR HBB 130(H7) Ala>Glu HbVar.529 commonName Hb K-Cameroon HbVar.529 ethnic Cameroonian HbVar.529 phenoCommon Hemoglobin variant HbVar.530 protEffect HBB 130(H7) Ala>Pro HbVar.530 commonName Hb Crete HbVar.530 ethnic Greek HbVar.530 phenoCommon Hemoglobin variant HbVar.531 protEffect HBB 130(H7) Ala>Val HbVar.531 commonName Hb La Desirade HbVar.531 ethnic Black HbVar.531 phenoCommon Hemoglobin variant HbVar.532 protEffect HBB 131(H8) Tyr>Asp HbVar.532 commonName Hb Wien HbVar.532 ethnic Australian HbVar.532 ethnic German HbVar.532 phenoCommon Hemoglobin variant HbVar.533 protEffect HBB 131(H8) Tyr>Ser HbVar.533 commonName Hb Nevers HbVar.533 ethnic French Caucasian HbVar.533 phenoCommon Hemoglobin variant HbVar.534 protEffect HBB 131(H8) Tyr>Cys HbVar.534 commonName Hb Montfermeil HbVar.534 ethnic Portuguese HbVar.534 ethnic Hungarian HbVar.534 ethnic Gypsy HbVar.534 phenoCommon Hemoglobin variant HbVar.535 protEffect HBB 132(H9) Gln>Glu HbVar.535 commonName Hb Camden HbVar.535 alias Hb Tokuchi HbVar.535 alias Hb Motown HbVar.535 ethnic Black HbVar.535 ethnic Japanese HbVar.535 phenoCommon Hemoglobin variant HbVar.536 protEffect HBB 132(H9) Gln>Lys HbVar.536 commonName Hb Shelby HbVar.536 ethnic Black HbVar.536 phenoCommon Hemoglobin variant HbVar.537 protEffect HBB 132(H9) Gln>Pro HbVar.537 commonName Hb Shanghai HbVar.537 ethnic Chinese HbVar.537 phenoCommon Hemoglobin variant HbVar.538 protEffect HBB 132(H9) Gln>Arg HbVar.538 commonName Hb Sarrebourg HbVar.538 ethnic Turkish HbVar.538 phenoCommon Hemoglobin variant HbVar.539 protEffect HBB 132(H9) Gln>His HbVar.539 commonName Hb Silver Springs HbVar.539 ethnic African-American HbVar.539 phenoCommon Hemoglobin variant HbVar.540 protEffect HBB 133(H10) Lys>Gln HbVar.540 commonName Hb K-Woolwich HbVar.540 ethnic Black HbVar.540 phenoCommon Hemoglobin variant HbVar.540 phenoCommon Normal HbVar.541 protEffect HBB 133(H10) Lys>Asn HbVar.541 commonName Hb Yamagata HbVar.541 ethnic Japanese HbVar.541 phenoCommon Hemoglobin variant HbVar.542 protEffect HBB 133(H10) Lys>Thr HbVar.542 commonName Hb Cook HbVar.542 ethnic Thai HbVar.542 phenoCommon Hemoglobin variant HbVar.543 protEffect HBB 133(H10) Lys>Glu HbVar.543 commonName Hb Takasago HbVar.543 ethnic Japanese HbVar.543 phenoCommon Hemoglobin variant HbVar.544 protEffect HBB 134(H11) Val>Leu AND HBB 65(E8) Gly>Ser HbVar.544 commonName Hb Extremadura HbVar.544 ethnic Spanish HbVar.544 phenoCommon Hemoglobin variant HbVar.545 protEffect HBB 135(H12) Val>Glu HbVar.545 commonName Hb North Shore HbVar.545 alias Hb North Shore-Caracas HbVar.545 ethnic English HbVar.545 ethnic Venezuelan HbVar.545 ethnic Anglo-Celtic HbVar.545 phenoCommon Hemoglobin variant HbVar.546 protEffect HBB 136(H13) Ala>Pro HbVar.546 commonName Hb Altdorf HbVar.546 ethnic Italian HbVar.546 phenoCommon Hemoglobin variant HbVar.547 protEffect HBB 136(H13) Ala>Asp HbVar.547 commonName Hb Beckman HbVar.547 ethnic Black HbVar.547 phenoCommon Hemoglobin variant HbVar.548 protEffect HBB 137(H14) Gly>Asp HbVar.548 commonName Hb Hope HbVar.548 ethnic Black HbVar.548 ethnic Cuban HbVar.548 ethnic Japanese HbVar.548 ethnic Laotian HbVar.548 ethnic Thai HbVar.548 phenoCommon Hemoglobin variant HbVar.549 protEffect HBB 137(H14) Gly>Ala HbVar.549 commonName Hb Petit Bourg HbVar.549 ethnic English HbVar.549 ethnic French West Indies HbVar.549 phenoCommon Hemoglobin variant HbVar.550 protEffect HBB 137(H14) Gly>Ser HbVar.550 commonName Hb Perpignan HbVar.550 ethnic French Caucasian HbVar.550 phenoCommon Hemoglobin variant HbVar.551 protEffect HBB 139(H16) Ala>Pro HbVar.551 commonName Hb Brockton HbVar.551 ethnic Caucasian HbVar.551 ethnic Turkish HbVar.551 ethnic Chinese HbVar.551 phenoCommon Hemoglobin variant HbVar.552 protEffect HBB 140(H17) Asn>Asp HbVar.552 commonName Hb Geelong HbVar.552 ethnic Polish HbVar.552 ethnic Russian HbVar.552 ethnic Thai HbVar.552 ethnic Tatar HbVar.552 phenoCommon Hemoglobin variant HbVar.553 protEffect HBB 140(H17) Asn>Lys HbVar.553 commonName Hb Hinsdale HbVar.553 phenoCommon Hemoglobin variant HbVar.554 protEffect HBB 140(H17) Asn>Tyr HbVar.554 commonName Hb Aurora HbVar.554 ethnic Dutch HbVar.554 phenoCommon Hemoglobin variant HbVar.555 protEffect HBB 141(H18) Ala>Thr HbVar.555 commonName Hb Saint-Jacques HbVar.555 ethnic Caucasian HbVar.555 phenoCommon Hemoglobin variant HbVar.556 protEffect HBB 141(H18) Ala>Asp HbVar.556 commonName Hb Himeji HbVar.556 ethnic Japanese HbVar.556 ethnic Portuguese HbVar.556 phenoCommon Hemoglobin variant HbVar.557 protEffect HBB 141(H18) Ala>Val HbVar.557 commonName Hb Puttelange HbVar.557 ethnic French HbVar.557 phenoCommon Hemoglobin variant HbVar.558 protEffect HBB 142(H19) Leu>Arg HbVar.558 commonName Hb Olmsted HbVar.558 ethnic French HbVar.558 ethnic Caucasian HbVar.558 phenoCommon Hemoglobin variant HbVar.559 protEffect HBB 143(H20) Ala>Asp HbVar.559 commonName Hb Ohio HbVar.559 ethnic Scottish HbVar.559 ethnic English HbVar.559 phenoCommon Hemoglobin variant HbVar.560 protEffect HBB 143(H20) Ala>Pro HbVar.560 commonName Hb Toyoake HbVar.560 ethnic Japanese HbVar.560 phenoCommon Hemoglobin variant HbVar.561 protEffect HBB 144(H21) His>Asn HbVar.561 commonName Hb Sapporo HbVar.561 ethnic Japanese HbVar.561 phenoCommon Hemoglobin variant HbVar.562 protEffect HBB 144(H21) His>Arg HbVar.562 commonName Hb Abruzzo HbVar.562 ethnic Italian HbVar.562 ethnic American HbVar.562 phenoCommon Hemoglobin variant HbVar.563 protEffect HBB 144(H21) His>Gln HbVar.563 commonName Hb Little Rock HbVar.563 ethnic American HbVar.563 phenoCommon Hemoglobin variant HbVar.564 protEffect HBB 144(H21) His>Pro HbVar.564 commonName Hb Syracuse HbVar.564 ethnic Caucasian HbVar.564 ethnic Japanese HbVar.564 phenoCommon Hemoglobin variant HbVar.565 protEffect HBB 144(H21) His>Asp HbVar.565 commonName Hb Rancho Mirage HbVar.565 phenoCommon Hemoglobin variant HbVar.566 protEffect HBB 144(H21) His>Tyr HbVar.566 commonName Hb Old Dominion/Burton-upon-Trent (OD/BuT) HbVar.566 ethnic Scottish HbVar.566 ethnic Irish HbVar.566 phenoCommon Hemoglobin variant HbVar.567 protEffect HBB 145(HC1) Lys>Asn HbVar.567 commonName Hb Andrew-Minneapolis HbVar.567 ethnic German HbVar.567 ethnic Bulgarian HbVar.567 phenoCommon Hemoglobin variant HbVar.568 protEffect HBB 145(HC1) Lys>Glu HbVar.568 commonName Hb Mito HbVar.568 ethnic Japanese HbVar.568 phenoCommon Hemoglobin variant HbVar.569 protEffect HBB 145(HC1) Lys>Met HbVar.569 commonName Hb Barbizon HbVar.569 ethnic French Caucasian HbVar.569 phenoCommon Hemoglobin variant HbVar.570 protEffect HBB 146(HC2) Tyr>His HbVar.570 commonName Hb Bethesda HbVar.570 ethnic Chinese HbVar.570 ethnic Canadian HbVar.570 ethnic Caucasian HbVar.570 phenoCommon Hemoglobin variant HbVar.571 protEffect HBB 146(HC2) Tyr>Cys HbVar.571 commonName Hb Rainier HbVar.571 ethnic Caucasian HbVar.571 ethnic French HbVar.571 ethnic Greek HbVar.571 ethnic Italian HbVar.571 phenoCommon Hemoglobin variant HbVar.572 protEffect HBB 146(HC2) Tyr>Asn HbVar.572 commonName Hb Osler HbVar.572 alias Hb Fort Gordon HbVar.572 ethnic Black HbVar.572 phenoCommon Hemoglobin variant HbVar.573 protEffect HBB 146(HC2) Tyr>Asp HbVar.573 commonName Hb Nancy HbVar.573 ethnic French HbVar.573 phenoCommon Hemoglobin variant HbVar.574 protEffect HBB 146(HC2) Tyr-His->0 HbVar.574 commonName Hb McKees Rocks HbVar.574 ethnic Caucasian HbVar.574 phenoCommon Hemoglobin variant HbVar.575 protEffect HBB 147(HC3) His>Asp HbVar.575 commonName Hb Hiroshima HbVar.575 ethnic Japanese HbVar.575 phenoCommon Hemoglobin variant HbVar.576 protEffect HBB 147(HC3) His>Pro HbVar.576 commonName Hb York HbVar.576 ethnic Caucasian HbVar.576 phenoCommon Hemoglobin variant HbVar.577 protEffect HBB 147(HC3) His>Arg HbVar.577 commonName Hb Cochin-Port Royal HbVar.577 ethnic French HbVar.577 phenoCommon Hemoglobin variant HbVar.578 protEffect HBB 147(HC3) His>Leu HbVar.578 commonName Hb Cowtown HbVar.578 ethnic Caucasian HbVar.578 phenoCommon Hemoglobin variant HbVar.579 protEffect HBB 147(HC3) His>Gln HbVar.579 commonName Hb Kodaira HbVar.579 ethnic Japanese HbVar.579 phenoCommon Hemoglobin variant HbVar.580 protEffect HBG2 2(NA1) Gly>Cys HbVar.580 commonName Hb F-Malaysia HbVar.580 ethnic Chinese HbVar.580 phenoCommon Hemoglobin variant HbVar.581 protEffect HBG2 6(A2) Glu>Gly HbVar.581 commonName Hb F-Meinohama HbVar.581 ethnic Japanese HbVar.581 phenoCommon Hemoglobin variant HbVar.582 protEffect HBG2 8(A4) Asp>Asn HbVar.582 commonName Hb F-Auckland HbVar.582 ethnic American HbVar.582 ethnic New Zealand HbVar.582 phenoCommon Hemoglobin variant HbVar.583 protEffect HBG2 9(A5) Lys>Gln OR HBG2 9(A5) Lys>Glu HbVar.583 commonName Hb F-Albaicin HbVar.583 ethnic Spanish HbVar.583 phenoCommon Hemoglobin variant HbVar.584 protEffect HBG2 13(A9) Thr>Arg HbVar.584 commonName Hb F-Heather HbVar.584 phenoCommon Hemoglobin variant HbVar.585 protEffect HBG2 16(A12) Trp>Arg HbVar.585 commonName Hb F-Catalonia HbVar.585 ethnic Spanish HbVar.585 phenoCommon Hemoglobin variant HbVar.586 protEffect HBG2 17(A13) Gly>Arg HbVar.586 commonName Hb F-Melbourne HbVar.586 ethnic Spanish HbVar.586 phenoCommon Hemoglobin variant HbVar.587 protEffect HBG2 22(B3) Glu>Gln HbVar.587 commonName Hb F-Fuchu HbVar.587 ethnic Japanese HbVar.587 phenoCommon Hemoglobin variant HbVar.588 protEffect HBG2 22(B3) Glu>Lys HbVar.588 commonName Hb F-Saskatoon HbVar.588 ethnic American Indian HbVar.588 phenoCommon Hemoglobin variant HbVar.589 protEffect HBG2 23(B4) Asp>Gly HbVar.589 commonName Hb F-Urumqi HbVar.589 ethnic Chinese HbVar.589 phenoCommon Hemoglobin variant HbVar.590 protEffect HBG2 23(B4) Asp>Val HbVar.590 commonName Hb F-Granada HbVar.590 ethnic Spanish HbVar.590 phenoCommon Hemoglobin variant HbVar.591 protEffect HBG2 26(B7) Gly>Glu HbVar.591 commonName Hb F-Cosenza HbVar.591 ethnic Italian HbVar.591 phenoCommon Hemoglobin variant HbVar.592 protEffect HBG2 27(B8) Glu>Lys HbVar.592 commonName Hb F-Oakland HbVar.592 ethnic Chinese HbVar.592 ethnic Black HbVar.592 phenoCommon Hemoglobin variant HbVar.593 protEffect HBG2 35(B16) Val>Ile HbVar.593 commonName Hb F-Tokyo HbVar.593 ethnic Japanese HbVar.593 phenoCommon Hemoglobin variant HbVar.594 protEffect HBG2 41(C6) Arg>Lys HbVar.594 commonName Hb F-Austell HbVar.594 ethnic Black HbVar.594 phenoCommon Hemoglobin variant HbVar.595 protEffect HBG2 41(C6) Arg>Gly HbVar.595 commonName Hb F-Veleta HbVar.595 ethnic Spanish HbVar.595 phenoCommon Hemoglobin variant HbVar.596 protEffect HBG2 42(C7) Phe>Ser HbVar.596 commonName Hb F-Cincinnati HbVar.596 ethnic Caucasian HbVar.596 phenoCommon Hemoglobin variant HbVar.597 protEffect HBG2 45(CD3) Ser>Arg HbVar.597 commonName Hb F-Lodz HbVar.597 ethnic Polish HbVar.597 phenoCommon Hemoglobin variant HbVar.598 protEffect HBG2 56(D6) Met>Arg HbVar.598 commonName Hb F-Kingston HbVar.598 ethnic Jamaican HbVar.598 ethnic Spanish HbVar.598 phenoCommon Hemoglobin variant HbVar.599 protEffect HBG2 60(E3) Lys>Gln HbVar.599 commonName Hb F-Sacromonte HbVar.599 alias Hb F-Foch HbVar.599 ethnic Spanish HbVar.599 ethnic French HbVar.599 phenoCommon Hemoglobin variant HbVar.600 protEffect HBG2 60(E3) Lys>Glu HbVar.600 commonName Hb F-Emirates HbVar.600 ethnic Arabian HbVar.600 phenoCommon Hemoglobin variant HbVar.601 protEffect HBG2 64(E7) His>Tyr HbVar.601 commonName Hb F-M-Osaka HbVar.601 ethnic Caucasian HbVar.601 ethnic Japanese HbVar.601 phenoCommon Hemoglobin variant HbVar.602 protEffect HBG2 66(E9) Lys>Asn HbVar.602 commonName Hb F-Clarke HbVar.602 ethnic Hispanic HbVar.602 phenoCommon Hemoglobin variant HbVar.603 protEffect HBG2 67(E10) Lys>Arg HbVar.603 commonName Hb F-Shanghai HbVar.603 ethnic Chinese HbVar.603 phenoCommon Hemoglobin variant HbVar.604 protEffect HBG2 67(E10) Lys>Gln HbVar.604 commonName Hb F-Brooklyn HbVar.604 ethnic Caucasian HbVar.604 phenoCommon Hemoglobin variant HbVar.605 protEffect HBG2 73(E16) Gly>Arg HbVar.605 commonName Hb F-Minoo HbVar.605 ethnic Japanese HbVar.605 phenoCommon Hemoglobin variant HbVar.606 protEffect HBG2 76(E19) Ile>Thr HbVar.606 commonName Hb F-Lesvos HbVar.606 alias Hb F-Waynesboro HbVar.606 alias Hb F-Sassari HbVar.606 phenoCommon Hemoglobin variant HbVar.607 protEffect HBG2 78(EF1) His>Arg HbVar.607 commonName Hb F-Kennestone HbVar.607 ethnic Caucasian HbVar.607 phenoCommon Hemoglobin variant HbVar.608 protEffect HBG2 81(EF4) Asp>Asn HbVar.608 commonName Hb F-Marietta HbVar.608 ethnic Caucasian HbVar.608 phenoCommon Hemoglobin variant HbVar.609 protEffect HBG2 93(F8) His>Tyr HbVar.609 commonName Hb F-M-Fort Ripley HbVar.609 ethnic American HbVar.609 ethnic Canadian HbVar.609 phenoCommon Hemoglobin variant HbVar.610 protEffect HBG2 95(FG1) Asp>Asn HbVar.610 commonName Hb F-Columbus-GA HbVar.610 ethnic Caucasian HbVar.610 phenoCommon Hemoglobin variant HbVar.611 protEffect HBG2 102(G3) Glu>Lys HbVar.611 commonName Hb F-La Grange HbVar.611 ethnic Caucasian HbVar.611 phenoCommon Hemoglobin variant HbVar.612 protEffect HBG2 105(G6) Lys>Asn HbVar.612 commonName Hb F-Macedonia-II HbVar.612 ethnic Macedonian HbVar.612 phenoCommon Hemoglobin variant HbVar.613 protEffect HBG2 118(G19) His>Arg HbVar.613 commonName Hb F-Malta-I HbVar.613 ethnic Maltese HbVar.613 ethnic Italian HbVar.613 phenoCommon Hemoglobin variant HbVar.614 protEffect HBG2 121(GH3) Lys>Gln HbVar.614 commonName Hb F-Caltech HbVar.614 ethnic French HbVar.614 ethnic Swedish HbVar.614 ethnic Hispanic HbVar.614 phenoCommon Hemoglobin variant HbVar.615 protEffect HBG2 122(GH4) Glu>Lys HbVar.615 commonName Hb F-Carlton HbVar.615 ethnic Italian HbVar.615 phenoCommon Hemoglobin variant HbVar.616 protEffect HBG2 126(H3) Glu>Ala HbVar.616 commonName Hb F-Port Royal HbVar.616 ethnic Black HbVar.616 phenoCommon Hemoglobin variant HbVar.617 protEffect HBG2 131(H8) Trp>Gly HbVar.617 commonName Hb F-Poole HbVar.617 ethnic Black HbVar.617 ethnic Caucasian HbVar.617 phenoCommon Hemoglobin variant HbVar.618 protEffect HBG2 147(HC3) His>Tyr HbVar.618 commonName Hb F-Onoda HbVar.618 ethnic Japanese HbVar.618 phenoCommon Hemoglobin variant HbVar.619 protEffect HBG1 3(NA2) His>Gln HbVar.619 commonName Hb F-Macedonia-I HbVar.619 ethnic Macedonian HbVar.619 phenoCommon Hemoglobin variant HbVar.620 protEffect HBG1 6(A2) Glu>Lys HbVar.620 commonName Hb F-Texas-I HbVar.620 ethnic Black HbVar.620 phenoCommon Hemoglobin variant HbVar.621 protEffect HBG1 7(A3) Glu>Gly HbVar.621 commonName Hb F-Kotobuki HbVar.621 alias Hb F-Izumi HbVar.621 ethnic Japanese HbVar.621 phenoCommon Hemoglobin variant HbVar.622 protEffect HBG1 7(A3) Glu>Gln HbVar.622 commonName Hb F-Pordenone HbVar.622 ethnic Italian HbVar.622 phenoCommon Hemoglobin variant HbVar.623 protEffect HBG1 13(A9) Thr>Arg HbVar.623 commonName Hb F-Calluna HbVar.623 ethnic Caucasian HbVar.623 phenoCommon Hemoglobin variant HbVar.624 protEffect HBG1 23(B4) Asp>Gly HbVar.624 commonName Hb F-Kuala Lumpur HbVar.624 ethnic Indian HbVar.624 phenoCommon Hemoglobin variant HbVar.625 protEffect HBG1 37(C2) Pro>Arg HbVar.625 commonName Hb F-Pendergrass HbVar.625 ethnic Caucasian HbVar.625 phenoCommon Hemoglobin variant HbVar.626 protEffect HBG1 38(C3) Trp>Gly HbVar.626 commonName Hb F-Cobb HbVar.626 ethnic Caucasian HbVar.626 phenoCommon Hemoglobin variant HbVar.627 protEffect HBG1 40(C5) Gln>Arg HbVar.627 commonName Hb F-Bonaire-GA HbVar.627 ethnic Caucasian HbVar.627 ethnic Vietnamese HbVar.627 phenoCommon Hemoglobin variant HbVar.628 protEffect HBG1 41(C6) Arg>Lys HbVar.628 commonName Hb F-Woodstock HbVar.628 ethnic Black HbVar.628 phenoCommon Hemoglobin variant HbVar.629 protEffect HBG1 54(D4) Ala>Asp HbVar.629 commonName Hb F-Beech Island HbVar.629 ethnic Black HbVar.629 ethnic Caucasian HbVar.629 phenoCommon Hemoglobin variant HbVar.630 protEffect HBG1 62(E5) Lys>Glu HbVar.630 commonName Hb F-Jamaica HbVar.630 phenoCommon Hemoglobin variant HbVar.631 protEffect HBG1 73(E16) Gly>Arg HbVar.631 commonName Hb F-Iwata HbVar.631 ethnic Japanese HbVar.631 phenoCommon Hemoglobin variant HbVar.632 protEffect HBG1 74(E17) Asp>His HbVar.632 commonName Hb F-Xin-Su HbVar.632 ethnic Chinese HbVar.632 phenoCommon Hemoglobin variant HbVar.633 protEffect HBG1 76(E19) Ile>Thr HbVar.633 commonName Hb F-Sardinia (AgammaT) HbVar.633 phenoCommon Hemoglobin variant HbVar.634 protEffect HBG1 80(EF3) Asp>Asn HbVar.634 commonName Hb F-Dammam HbVar.634 ethnic Arabian HbVar.634 phenoCommon Hemoglobin variant HbVar.635 protEffect HBG1 81(EF4) Asp>Tyr HbVar.635 commonName Hb F-Victoria Jubilee HbVar.635 ethnic Black HbVar.635 phenoCommon Hemoglobin variant HbVar.636 protEffect HBG1 98(FG4) His>Arg HbVar.636 commonName Hb F-Dickinson HbVar.636 phenoCommon Hemoglobin variant HbVar.637 protEffect HBG1 122(GH4) Glu>Lys HbVar.637 commonName Hb F-Hull HbVar.637 ethnic English HbVar.637 phenoCommon Hemoglobin variant HbVar.638 protEffect HBG1 129(H6) Ala>Thr HbVar.638 commonName Hb F-Baskent HbVar.638 ethnic Turkish HbVar.638 phenoCommon Hemoglobin variant HbVar.639 protEffect HBG1 135(H12) Val>Met HbVar.639 commonName Hb F-Jiangsu HbVar.639 ethnic Chinese HbVar.639 phenoCommon Hemoglobin variant HbVar.640 protEffect HBG1 or HBG2 7(A3) Glu>Lys HbVar.640 commonName Hb F-Texas-II HbVar.640 ethnic English HbVar.640 phenoCommon Hemoglobin variant HbVar.641 protEffect HBG2 or HBG1 13(A9) Thr>Lys HbVar.641 commonName Hb F-Alexandra HbVar.641 ethnic Greek HbVar.641 ethnic Swiss HbVar.641 phenoCommon Hemoglobin variant HbVar.642 protEffect HBG1 or HBG2 109(G10) Asn>Lys HbVar.642 commonName Hb F-Ube HbVar.642 ethnic Japanese HbVar.642 phenoCommon Hemoglobin variant HbVar.643 protEffect HBG1 24(B5) Ala->0 HbVar.643 commonName Hb F-Mauritius HbVar.643 phenoCommon Hemoglobin variant HbVar.644 protEffect HBG1 26(B7) Gly>Arg HbVar.644 commonName Hb F-Xinjiang HbVar.644 ethnic Chinese HbVar.644 phenoCommon Hemoglobin variant HbVar.645 protEffect HBG1 44(CD2) Asp>Asn HbVar.645 commonName Hb F-Fukuyama HbVar.645 ethnic Japanese HbVar.645 phenoCommon Hemoglobin variant HbVar.646 protEffect HBG1 74(E17) Asp>Asn HbVar.646 commonName Hb F-Forest Park HbVar.646 ethnic Caucasian HbVar.646 phenoCommon Hemoglobin variant HbVar.647 protEffect HBG1 81(EF4) Asp>Asn HbVar.647 commonName Hb F-Yamaguchi HbVar.647 ethnic Japanese HbVar.647 phenoCommon Hemoglobin variant HbVar.648 protEffect HBG1 122(GH4) Glu>Lys HbVar.648 commonName Hb F-Siena HbVar.648 ethnic Italian HbVar.648 phenoCommon Hemoglobin variant HbVar.649 commonName -101 (C->T) beta+ (silent) HbVar.649 ethnic United Arab Emirates HbVar.649 ethnic Italian HbVar.649 ethnic Sicilian HbVar.649 ethnic Greek HbVar.649 ethnic Turkish HbVar.649 ethnic Bulgarian HbVar.649 phenoCommon beta+ thalassemia HbVar.650 protEffect HBD 2(NA1) Val>Ala HbVar.650 commonName Hb A2-Niigata HbVar.650 ethnic Japanese HbVar.650 phenoCommon Hemoglobin variant HbVar.651 protEffect HBD 3(NA2) His>Arg HbVar.651 commonName Hb A2-Sphakia HbVar.651 ethnic Cretan HbVar.651 ethnic Mediterranean HbVar.651 phenoCommon Hemoglobin variant HbVar.652 protEffect HBD 12(A8) Val>Gly HbVar.652 commonName Hb A2-Pylos HbVar.652 ethnic Greek HbVar.652 phenoCommon Hemoglobin variant HbVar.653 protEffect HBD 13(A9) Asn>Lys HbVar.653 commonName Hb A2-NYU HbVar.653 ethnic Russian HbVar.653 ethnic Greek HbVar.653 ethnic Jewish HbVar.653 ethnic Ukrainian HbVar.653 ethnic Dutch HbVar.653 phenoCommon Hemoglobin variant HbVar.654 protEffect HBD 17(A13) Gly>Arg HbVar.654 commonName Hb A2' or Hb B2 HbVar.654 ethnic Black HbVar.654 ethnic African-American HbVar.654 phenoCommon Hemoglobin variant HbVar.655 protEffect HBD 21(B2) Val>Glu HbVar.655 commonName Hb A2-Roosevelt HbVar.655 ethnic Iraqi HbVar.655 phenoCommon Hemoglobin variant HbVar.656 protEffect HBD 23(B4) Ala>Glu HbVar.656 commonName Hb A2-Flatbush HbVar.656 ethnic Black HbVar.656 phenoCommon Hemoglobin variant HbVar.657 protEffect HBD 25(B6) Gly>Asp HbVar.657 commonName Hb A2-Victoria HbVar.657 ethnic Iraqi HbVar.657 phenoCommon Hemoglobin variant HbVar.658 protEffect HBD 26(B7) Gly>Asp HbVar.658 commonName Hb A2-Yokoshima HbVar.658 ethnic Japanese HbVar.658 phenoCommon Hemoglobin variant HbVar.659 protEffect HBD 27(B8) Glu>Asp HbVar.659 commonName Hb A2-Puglia HbVar.659 ethnic Italian HbVar.659 phenoCommon Hemoglobin variant HbVar.660 protEffect HBD 28(B9) Ala>Ser HbVar.660 commonName Hb A2-Yialousa HbVar.660 alias Codon 27 (GCC->TCC) delta+ HbVar.660 ethnic Greek HbVar.660 ethnic Greek Cypriot HbVar.660 ethnic Sardinian HbVar.660 phenoCommon Thalassemia HbVar.661 protEffect HBD 37(C2) Pro>His HbVar.661 commonName Hb A2-Metaponto HbVar.661 ethnic Italian HbVar.661 phenoCommon Hemoglobin variant HbVar.662 protEffect HBD 44(CD2) Glu>Lys HbVar.662 commonName Hb A2-Melbourne HbVar.662 ethnic Italian HbVar.662 phenoCommon Hemoglobin variant HbVar.663 protEffect HBD 44(CD2) Glu>Gly HbVar.663 commonName Hb A2-Agrinio HbVar.663 ethnic Greek HbVar.663 phenoCommon Hemoglobin variant HbVar.664 protEffect HBD 48(CD6) Asp>Val HbVar.664 commonName Hb A2-Parkville HbVar.664 ethnic Italian HbVar.664 phenoCommon Hemoglobin variant HbVar.665 protEffect HBD 52(D2) Pro>Arg HbVar.665 commonName Hb A2-Adria HbVar.665 ethnic Italian HbVar.665 phenoCommon Hemoglobin variant HbVar.666 protEffect HBD 70(E13) Gly>Arg HbVar.666 commonName Hb A2-Indonesia HbVar.666 ethnic Indonesian HbVar.666 ethnic Malay HbVar.666 phenoCommon Hemoglobin variant HbVar.667 protEffect HBD 76(E19) Leu>Val HbVar.667 commonName Hb A2-Grovetown HbVar.667 ethnic Black HbVar.667 phenoCommon Hemoglobin variant HbVar.668 protEffect HBD 84(EF7) Gly>Asp HbVar.668 commonName Hb A2-Nishishinbashi HbVar.668 ethnic Japanese HbVar.668 phenoCommon Hemoglobin variant HbVar.669 protEffect HBD 86(F1) Phe>Ser HbVar.669 commonName Hb A2-Etolia HbVar.669 ethnic Greek HbVar.669 phenoCommon Hemoglobin variant HbVar.670 protEffect HBD 91(F6) Glu>Val HbVar.670 commonName Hb A2-Honai HbVar.670 ethnic Japanese HbVar.670 phenoCommon Hemoglobin variant HbVar.671 protEffect HBD 94(F9) Cys>Gly HbVar.671 commonName Hb A2-Sant' Antioco HbVar.671 ethnic Sardinian HbVar.671 phenoCommon Hemoglobin variant HbVar.672 protEffect HBD 99(FG5) Val>Met HbVar.672 commonName Hb A2-Wrens HbVar.672 alias Codon 98 (GTG->ATG) delta+ HbVar.672 ethnic Black HbVar.672 phenoCommon delta+ thalassemia HbVar.673 protEffect HBD 100(G1) Asp>Asn reichardt_2 commonName T756C reichardt_2 protEffect C5R reichardt_3 commonName C832T reichardt_3 protEffect P30L reichardt_4 commonName C886G reichardt_4 protEffect P48R reichardt_5 commonName G888A reichardt_5 protEffect A49T reichardt_6 commonName G894A reichardt_6 protEffect A51T reichardt_7 commonName C957T reichardt_7 protEffect P72S reichardt_8 commonName G1008C reichardt_8 protEffect L89V reichardt_9 commonName C1902T reichardt_9 protEffect T187M reichardt_10 commonName C1924G reichardt_10 protEffect F194L reichardt_11 commonName 1994delT reichardt_11 protEffect frameshift reichardt_12 commonName G2022A reichardt_12 protEffect R227Q reichardt_13 commonName C2244G reichardt_13 protEffect F234L reichardt_14 commonName A95C reichardt_15 commonName A97T reichardt_16 commonName G362A reichardt_17 commonName C528A reichardt_18 commonName C682G reichardt_19 commonName C742A reichardt_20 commonName C905T reichardt_21 commonName C926T reichardt_22 commonName C950T reichardt_23 commonName G952A reichardt_24 commonName G953A reichardt_25 commonName C1001G reichardt_26 commonName C1016T reichardt_27 commonName C1037G reichardt_28 commonName T1039C reichardt_29 commonName G1044A reichardt_30 commonName G1047T reichardt_31 commonName A1061C reichardt_32 commonName A1395C reichardt_33 commonName A1545T reichardt_34 commonName A1888C reichardt_35 commonName G1892C reichardt_36 commonName C1927T reichardt_37 commonName T2038C reichardt_38 commonName T2584C reichardt_39 commonName A3146T reichardt_40 commonName A3174G reichardt_41 commonName A3681C reichardt_42 commonName G3877A reichardt_43 commonName A4168G? VAR_000006 commonName VAR_000006 VAR_000006 disease phenotype-associated VAR_000006 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810] VAR_000007 commonName VAR_000007 VAR_000007 disease phenotype-associated VAR_000007 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810] VAR_000008 commonName VAR_000008 VAR_000008 disease phenotype-associated VAR_000008 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810] HbVar.673 commonName Hb A2-Canada HbVar.673 ethnic Indian VAR_000009 commonName VAR_000009 VAR_000009 disease phenotype-associated VAR_000009 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810] VAR_000010 commonName VAR_000010 VAR_000010 disease phenotype-associated VAR_000010 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810] VAR_000011 commonName VAR_000011 VAR_000011 disease phenotype-associated VAR_000011 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810] VAR_000012 commonName VAR_000012 VAR_000012 disease not phenotype-associated VAR_000013 commonName VAR_000013 VAR_000013 disease not phenotype-associated VAR_000014 commonName VAR_000014 VAR_000014 disease not phenotype-associated VAR_000016 commonName VAR_000016 VAR_000016 disease phenotype-associated VAR_000016 phenoCommon Alzheimer disease type 1 (AD1) [MIM:104300] VAR_000017 commonName VAR_000017 VAR_000017 disease phenotype-associated VAR_000017 phenoCommon Cerebral amyloid angiopathy APP-related (CAA-APP) [MIM:605714] VAR_000018 commonName VAR_000018 VAR_000019 commonName VAR_000019 VAR_000019 disease phenotype-associated VAR_000019 phenoCommon Alzheimer disease type 1 (AD1) [MIM:104300] VAR_000020 commonName VAR_000020 VAR_000020 disease phenotype-associated VAR_000020 phenoCommon Alzheimer disease type 1 (AD1) [MIM:104300] VAR_000021 commonName VAR_000021 VAR_000021 disease phenotype-associated VAR_000021 phenoCommon Alzheimer disease type 1 (AD1) [MIM:104300] VAR_000022 commonName VAR_000022 VAR_000022 disease phenotype-associated VAR_000022 phenoCommon Alzheimer disease type 1 (AD1) [MIM:104300] VAR_000023 commonName VAR_000023 VAR_000023 disease phenotype-associated VAR_000023 phenoCommon Alzheimer disease type 1 (AD1) [MIM:104300] VAR_000024 commonName VAR_000024 VAR_000024 disease phenotype-associated VAR_000024 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000025 commonName VAR_000025 VAR_000025 disease phenotype-associated VAR_000025 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000026 commonName VAR_000026 VAR_000026 disease phenotype-associated VAR_000026 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000027 commonName VAR_000027 VAR_000027 disease phenotype-associated VAR_000027 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000028 commonName VAR_000028 VAR_000028 disease phenotype-associated VAR_000028 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000029 commonName VAR_000029 VAR_000029 disease phenotype-associated VAR_000029 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000030 commonName VAR_000030 VAR_000030 disease phenotype-associated VAR_000030 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000033 commonName VAR_000033 VAR_000033 disease phenotype-associated VAR_000033 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000034 commonName VAR_000034 VAR_000034 disease phenotype-associated VAR_000034 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000035 commonName VAR_000035 VAR_000035 disease phenotype-associated VAR_000035 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000036 commonName VAR_000036 VAR_000036 disease phenotype-associated VAR_000036 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000037 commonName VAR_000037 VAR_000037 disease phenotype-associated VAR_000037 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000038 commonName VAR_000038 VAR_000038 disease phenotype-associated VAR_000038 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000039 commonName VAR_000039 VAR_000039 disease phenotype-associated VAR_000039 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000040 commonName VAR_000040 VAR_000040 disease phenotype-associated VAR_000040 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000041 commonName VAR_000041 VAR_000041 disease phenotype-associated VAR_000041 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000042 commonName VAR_000042 VAR_000042 disease phenotype-associated VAR_000042 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000043 commonName VAR_000043 VAR_000043 disease phenotype-associated VAR_000043 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000044 commonName VAR_000044 VAR_000044 disease phenotype-associated VAR_000044 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000045 commonName VAR_000045 VAR_000045 disease phenotype-associated VAR_000045 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000046 commonName VAR_000046 VAR_000046 disease phenotype-associated VAR_000046 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000047 commonName VAR_000047 VAR_000047 disease phenotype-associated VAR_000047 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000048 commonName VAR_000048 VAR_000048 disease phenotype-associated VAR_000048 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000049 commonName VAR_000049 VAR_000049 disease phenotype-associated VAR_000049 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000050 commonName VAR_000050 VAR_000050 disease phenotype-associated VAR_000050 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000051 commonName VAR_000051 VAR_000051 disease phenotype-associated VAR_000051 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000052 commonName VAR_000052 VAR_000052 disease phenotype-associated VAR_000052 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000053 commonName VAR_000053 VAR_000053 disease phenotype-associated VAR_000053 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000054 commonName VAR_000054 VAR_000054 disease phenotype-associated VAR_000054 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000056 commonName VAR_000056 VAR_000056 disease phenotype-associated VAR_000056 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000057 commonName VAR_000057 VAR_000057 disease phenotype-associated VAR_000057 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000058 commonName VAR_000058 VAR_000058 disease phenotype-associated VAR_000058 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000060 commonName VAR_000060 VAR_000060 disease phenotype-associated VAR_000060 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000061 commonName VAR_000061 VAR_000061 disease phenotype-associated VAR_000061 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000062 commonName VAR_000062 VAR_000062 disease phenotype-associated VAR_000062 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000063 commonName VAR_000063 VAR_000063 disease phenotype-associated VAR_000063 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000064 commonName VAR_000064 VAR_000064 disease phenotype-associated VAR_000064 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000065 commonName VAR_000065 VAR_000065 disease phenotype-associated VAR_000065 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000066 commonName VAR_000066 VAR_000066 disease phenotype-associated VAR_000066 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000067 commonName VAR_000067 VAR_000067 disease phenotype-associated VAR_000067 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000068 commonName VAR_000068 VAR_000068 disease phenotype-associated VAR_000068 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000069 commonName VAR_000069 VAR_000069 disease phenotype-associated VAR_000069 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000070 commonName VAR_000070 VAR_000070 disease phenotype-associated VAR_000070 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000071 commonName VAR_000071 VAR_000071 disease phenotype-associated VAR_000071 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000072 commonName VAR_000072 VAR_000072 disease phenotype-associated VAR_000072 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000074 commonName VAR_000074 VAR_000074 disease phenotype-associated VAR_000074 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000075 commonName VAR_000075 VAR_000075 disease phenotype-associated VAR_000075 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000076 commonName VAR_000076 VAR_000076 disease phenotype-associated VAR_000076 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000077 commonName VAR_000077 VAR_000077 disease phenotype-associated VAR_000077 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000078 commonName VAR_000078 VAR_000078 disease phenotype-associated VAR_000078 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000079 commonName VAR_000079 VAR_000079 disease phenotype-associated VAR_000079 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000080 commonName VAR_000080 VAR_000080 disease phenotype-associated VAR_000080 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000081 commonName VAR_000081 VAR_000081 disease phenotype-associated VAR_000081 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000082 commonName VAR_000082 VAR_000082 disease phenotype-associated VAR_000082 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000083 commonName VAR_000083 VAR_000083 disease phenotype-associated VAR_000083 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000084 commonName VAR_000084 VAR_000084 disease phenotype-associated VAR_000084 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000085 commonName VAR_000085 VAR_000085 disease phenotype-associated VAR_000085 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000086 commonName VAR_000086 VAR_000086 disease phenotype-associated VAR_000086 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000087 commonName VAR_000087 VAR_000087 disease phenotype-associated VAR_000087 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000089 commonName VAR_000089 VAR_000089 disease phenotype-associated VAR_000089 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000090 commonName VAR_000090 VAR_000090 disease phenotype-associated VAR_000090 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_000091 commonName VAR_000091 VAR_000099 commonName VAR_000099 VAR_000099 disease phenotype-associated VAR_000099 phenoCommon Dubin-Johnson syndrome (DJS) [MIM:237500] VAR_000100 commonName VAR_000100 VAR_000100 disease phenotype-associated VAR_000100 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_000101 commonName VAR_000101 VAR_000101 disease phenotype-associated VAR_000101 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000102 commonName VAR_000102 VAR_000102 disease not phenotype-associated VAR_000103 commonName VAR_000103 VAR_000103 disease phenotype-associated VAR_000103 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000104 commonName VAR_000104 VAR_000104 disease phenotype-associated VAR_000104 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000105 commonName VAR_000105 VAR_000105 disease phenotype-associated VAR_000105 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000106 commonName VAR_000106 VAR_000106 disease not phenotype-associated VAR_000107 commonName VAR_000107 VAR_000107 disease phenotype-associated VAR_000107 phenoCommon Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] VAR_000108 commonName VAR_000108 VAR_000108 disease phenotype-associated VAR_000108 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000109 commonName VAR_000109 VAR_000109 disease phenotype-associated VAR_000109 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000110 commonName VAR_000110 VAR_000110 disease phenotype-associated VAR_000110 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000111 commonName VAR_000111 VAR_000111 disease not phenotype-associated VAR_000112 commonName VAR_000112 VAR_000112 disease phenotype-associated VAR_000112 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000113 commonName VAR_000113 VAR_000113 disease phenotype-associated VAR_000113 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000114 commonName VAR_000114 VAR_000114 disease phenotype-associated VAR_000114 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000115 commonName VAR_000115 VAR_000115 disease phenotype-associated VAR_000115 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000116 commonName VAR_000116 VAR_000116 disease phenotype-associated VAR_000116 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000117 commonName VAR_000117 VAR_000117 disease phenotype-associated VAR_000117 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000118 commonName VAR_000118 VAR_000118 disease phenotype-associated VAR_000118 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000119 commonName VAR_000119 VAR_000119 disease phenotype-associated VAR_000119 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000120 commonName VAR_000120 VAR_000120 disease phenotype-associated VAR_000120 phenoCommon Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] VAR_000121 commonName VAR_000121 VAR_000121 disease phenotype-associated VAR_000121 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000122 commonName VAR_000122 VAR_000122 disease phenotype-associated VAR_000122 phenoCommon Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] VAR_000122 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000123 commonName VAR_000123 VAR_000123 disease phenotype-associated VAR_000123 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000124 commonName VAR_000124 VAR_000124 disease phenotype-associated VAR_000124 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000125 commonName VAR_000125 VAR_000125 disease phenotype-associated VAR_000125 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000126 commonName VAR_000126 VAR_000126 disease phenotype-associated VAR_000126 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000127 commonName VAR_000127 VAR_000127 disease phenotype-associated VAR_000127 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000128 commonName VAR_000128 VAR_000128 disease phenotype-associated VAR_000128 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000129 commonName VAR_000129 VAR_000129 disease phenotype-associated VAR_000129 phenoCommon Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] VAR_000130 commonName VAR_000130 VAR_000130 disease phenotype-associated VAR_000130 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000132 commonName VAR_000132 VAR_000132 disease phenotype-associated VAR_000132 phenoCommon Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] VAR_000132 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000133 commonName VAR_000133 VAR_000133 disease phenotype-associated VAR_000133 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000134 commonName VAR_000134 VAR_000134 disease phenotype-associated VAR_000134 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000135 commonName VAR_000135 VAR_000135 disease phenotype-associated VAR_000135 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000136 commonName VAR_000136 VAR_000136 disease phenotype-associated VAR_000136 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000137 commonName VAR_000137 VAR_000137 disease phenotype-associated VAR_000137 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000138 commonName VAR_000138 VAR_000138 disease phenotype-associated VAR_000138 phenoCommon Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] VAR_000139 commonName VAR_000139 VAR_000139 disease phenotype-associated VAR_000139 phenoCommon Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] VAR_000140 commonName VAR_000140 VAR_000140 disease phenotype-associated VAR_000140 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000141 commonName VAR_000141 VAR_000141 disease phenotype-associated VAR_000141 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000142 commonName VAR_000142 VAR_000142 disease phenotype-associated VAR_000142 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000143 commonName VAR_000143 VAR_000143 disease phenotype-associated VAR_000143 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000144 commonName VAR_000144 VAR_000144 disease phenotype-associated VAR_000144 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000146 commonName VAR_000146 VAR_000146 disease phenotype-associated VAR_000146 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000147 commonName VAR_000147 VAR_000147 disease phenotype-associated VAR_000147 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000148 commonName VAR_000148 VAR_000148 disease phenotype-associated VAR_000148 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000150 commonName VAR_000150 VAR_000150 disease phenotype-associated VAR_000150 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000151 commonName VAR_000151 VAR_000151 disease phenotype-associated VAR_000151 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000152 commonName VAR_000152 VAR_000152 disease phenotype-associated VAR_000152 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000153 commonName VAR_000153 VAR_000153 disease phenotype-associated VAR_000153 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000154 commonName VAR_000154 VAR_000154 disease phenotype-associated VAR_000154 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000155 commonName VAR_000155 VAR_000155 disease phenotype-associated VAR_000155 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000156 commonName VAR_000156 VAR_000156 disease phenotype-associated VAR_000156 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000157 commonName VAR_000157 VAR_000157 disease phenotype-associated VAR_000157 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000160 commonName VAR_000160 VAR_000160 disease phenotype-associated VAR_000160 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000161 commonName VAR_000161 VAR_000161 disease phenotype-associated VAR_000161 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000162 commonName VAR_000162 VAR_000162 disease phenotype-associated VAR_000162 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000163 commonName VAR_000163 VAR_000163 disease not phenotype-associated VAR_000164 commonName VAR_000164 VAR_000164 disease not phenotype-associated VAR_000165 commonName VAR_000165 VAR_000165 disease phenotype-associated VAR_000165 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000166 commonName VAR_000166 VAR_000166 disease phenotype-associated VAR_000166 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000167 commonName VAR_000167 VAR_000167 disease phenotype-associated VAR_000167 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000168 commonName VAR_000168 VAR_000168 disease not phenotype-associated VAR_000169 commonName VAR_000169 VAR_000169 disease not phenotype-associated VAR_000172 commonName VAR_000172 VAR_000172 disease not phenotype-associated VAR_000173 commonName VAR_000173 VAR_000173 disease phenotype-associated VAR_000173 phenoCommon Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] VAR_000174 commonName VAR_000174 VAR_000174 disease phenotype-associated VAR_000174 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000175 commonName VAR_000175 VAR_000175 disease phenotype-associated VAR_000175 phenoCommon Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] VAR_000176 commonName VAR_000176 VAR_000176 disease phenotype-associated VAR_000176 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000177 commonName VAR_000177 VAR_000177 disease phenotype-associated VAR_000177 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000178 commonName VAR_000178 VAR_000178 disease phenotype-associated VAR_000178 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000179 commonName VAR_000179 VAR_000179 disease phenotype-associated VAR_000179 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000180 commonName VAR_000180 VAR_000180 disease phenotype-associated VAR_000180 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000181 commonName VAR_000181 VAR_000181 disease phenotype-associated VAR_000181 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000182 commonName VAR_000182 VAR_000182 disease phenotype-associated VAR_000182 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000183 commonName VAR_000183 VAR_000183 disease phenotype-associated VAR_000183 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000184 commonName VAR_000184 VAR_000184 disease phenotype-associated VAR_000184 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000185 commonName VAR_000185 VAR_000185 disease phenotype-associated VAR_000185 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000186 commonName VAR_000186 VAR_000186 disease phenotype-associated VAR_000186 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000187 commonName VAR_000187 VAR_000187 disease not phenotype-associated VAR_000188 commonName VAR_000188 VAR_000188 disease phenotype-associated VAR_000188 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000189 commonName VAR_000189 VAR_000189 disease phenotype-associated VAR_000189 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000190 commonName VAR_000190 VAR_000190 disease phenotype-associated VAR_000190 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000191 commonName VAR_000191 VAR_000191 disease phenotype-associated VAR_000191 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000192 commonName VAR_000192 VAR_000192 disease phenotype-associated VAR_000192 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000193 commonName VAR_000193 VAR_000193 disease phenotype-associated VAR_000193 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000194 commonName VAR_000194 VAR_000194 disease phenotype-associated VAR_000194 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000195 commonName VAR_000195 VAR_000195 disease phenotype-associated VAR_000195 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000196 commonName VAR_000196 VAR_000196 disease not phenotype-associated VAR_000197 commonName VAR_000197 VAR_000197 disease phenotype-associated VAR_000197 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000198 commonName VAR_000198 VAR_000198 disease phenotype-associated VAR_000198 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000199 commonName VAR_000199 VAR_000199 disease phenotype-associated VAR_000199 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000200 commonName VAR_000200 VAR_000200 disease phenotype-associated VAR_000200 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000201 commonName VAR_000201 VAR_000201 disease phenotype-associated VAR_000201 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000202 commonName VAR_000202 VAR_000202 disease phenotype-associated VAR_000202 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000203 commonName VAR_000203 VAR_000203 disease phenotype-associated VAR_000203 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000204 commonName VAR_000204 VAR_000204 disease phenotype-associated VAR_000204 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000205 commonName VAR_000205 VAR_000205 disease phenotype-associated VAR_000205 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000206 commonName VAR_000206 VAR_000207 commonName VAR_000207 VAR_000207 disease phenotype-associated VAR_000207 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000208 commonName VAR_000208 VAR_000208 disease phenotype-associated VAR_000208 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000209 commonName VAR_000209 VAR_000209 disease phenotype-associated VAR_000209 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000210 commonName VAR_000210 VAR_000210 disease phenotype-associated VAR_000210 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000211 commonName VAR_000211 VAR_000211 disease phenotype-associated VAR_000211 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000212 commonName VAR_000212 VAR_000212 disease not phenotype-associated VAR_000213 commonName VAR_000213 VAR_000213 disease not phenotype-associated VAR_000214 commonName VAR_000214 VAR_000214 disease phenotype-associated VAR_000214 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000215 commonName VAR_000215 VAR_000215 disease phenotype-associated VAR_000215 phenoCommon Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] VAR_000216 commonName VAR_000216 VAR_000216 disease phenotype-associated VAR_000216 phenoCommon Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] VAR_000217 commonName VAR_000217 VAR_000217 disease phenotype-associated VAR_000217 phenoCommon Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] VAR_000218 commonName VAR_000218 VAR_000218 disease phenotype-associated VAR_000218 phenoCommon Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] VAR_000219 commonName VAR_000219 VAR_000219 disease phenotype-associated VAR_000219 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000220 commonName VAR_000220 VAR_000221 commonName VAR_000221 VAR_000221 disease phenotype-associated VAR_000221 phenoCommon Cystic fibrosis (CF) [MIM:219700] VAR_000271 commonName VAR_000271 VAR_000271 disease phenotype-associated VAR_000271 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054] VAR_000272 commonName VAR_000272 VAR_000272 disease phenotype-associated VAR_000272 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054] VAR_000273 commonName VAR_000273 VAR_000273 disease phenotype-associated VAR_000273 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054] VAR_000274 commonName VAR_000274 VAR_000274 disease phenotype-associated VAR_000274 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054] VAR_000275 commonName VAR_000275 VAR_000275 disease phenotype-associated VAR_000275 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054] VAR_000276 commonName VAR_000276 VAR_000276 disease phenotype-associated VAR_000276 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054] VAR_000278 commonName VAR_000278 VAR_000278 disease phenotype-associated VAR_000278 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054] VAR_000279 commonName VAR_000279 VAR_000279 disease phenotype-associated VAR_000279 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054] VAR_000280 commonName VAR_000280 VAR_000280 disease phenotype-associated VAR_000280 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054] VAR_000281 commonName VAR_000281 VAR_000281 disease phenotype-associated VAR_000281 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054] VAR_000282 commonName VAR_000282 VAR_000282 disease phenotype-associated VAR_000282 phenoCommon Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462] VAR_000283 commonName VAR_000283 VAR_000283 disease phenotype-associated VAR_000283 phenoCommon Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462] VAR_000284 commonName VAR_000284 VAR_000284 disease phenotype-associated VAR_000284 phenoCommon Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462] VAR_000285 commonName VAR_000285 VAR_000285 disease phenotype-associated VAR_000285 phenoCommon Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462] VAR_000286 commonName VAR_000286 VAR_000286 disease phenotype-associated VAR_000286 phenoCommon Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462] VAR_000287 commonName VAR_000287 VAR_000287 disease phenotype-associated VAR_000287 phenoCommon Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462] VAR_000288 commonName VAR_000288 VAR_000288 disease phenotype-associated VAR_000288 phenoCommon Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462] VAR_000289 commonName VAR_000289 VAR_000289 disease phenotype-associated VAR_000289 phenoCommon Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930] VAR_000290 commonName VAR_000290 VAR_000290 disease phenotype-associated VAR_000290 phenoCommon Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931] VAR_000291 commonName VAR_000291 VAR_000291 disease phenotype-associated VAR_000291 phenoCommon Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931] VAR_000292 commonName VAR_000292 VAR_000292 disease phenotype-associated VAR_000292 phenoCommon Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462] VAR_000293 commonName VAR_000293 VAR_000293 disease phenotype-associated VAR_000293 phenoCommon Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462] VAR_000294 commonName VAR_000294 VAR_000294 disease phenotype-associated VAR_000294 phenoCommon Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931] VAR_000295 commonName VAR_000295 VAR_000295 disease phenotype-associated VAR_000295 phenoCommon Nocturnal frontal lobe epilepsy type 1 (ENFL1) [MIM:600513] VAR_000296 commonName VAR_000296 VAR_000296 disease phenotype-associated VAR_000296 phenoCommon Hyperekplexia, hereditary, type 1 (HKPX1) [MIM:149400] VAR_000297 commonName VAR_000297 VAR_000297 disease phenotype-associated VAR_000297 phenoCommon Hyperekplexia, hereditary, type 1 (HKPX1) [MIM:149400] VAR_000298 commonName VAR_000298 VAR_000298 disease phenotype-associated VAR_000298 phenoCommon Hyperekplexia, hereditary, type 1 (HKPX1) [MIM:149400] VAR_000299 commonName VAR_000299 VAR_000299 disease phenotype-associated VAR_000299 phenoCommon Hyperekplexia, hereditary, type 1 (HKPX1) [MIM:149400] VAR_000300 commonName VAR_000300 VAR_000300 disease phenotype-associated VAR_000300 phenoCommon Hyperekplexia, hereditary, type 1 (HKPX1) [MIM:149400] VAR_000301 commonName VAR_000301 VAR_000301 disease phenotype-associated VAR_000301 phenoCommon Hyperekplexia, hereditary, type 1 (HKPX1) [MIM:149400] VAR_000302 commonName VAR_000302 VAR_000302 disease not phenotype-associated VAR_000303 commonName VAR_000303 VAR_000303 disease not phenotype-associated VAR_000304 commonName VAR_000304 VAR_000305 commonName VAR_000305 VAR_000306 commonName VAR_000306 VAR_000308 commonName VAR_000308 VAR_000308 disease not phenotype-associated VAR_000309 commonName VAR_000309 VAR_000310 commonName VAR_000310 VAR_000310 disease phenotype-associated VAR_000310 phenoCommon Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] VAR_000311 commonName VAR_000311 VAR_000311 disease phenotype-associated VAR_000311 phenoCommon Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] VAR_000312 commonName VAR_000312 VAR_000312 disease phenotype-associated VAR_000312 phenoCommon Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] VAR_000314 commonName VAR_000314 VAR_000314 disease phenotype-associated VAR_000314 phenoCommon Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] VAR_000315 commonName VAR_000315 VAR_000315 disease not phenotype-associated VAR_000316 commonName VAR_000316 VAR_000316 disease phenotype-associated VAR_000316 phenoCommon Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] VAR_000317 commonName VAR_000317 VAR_000317 disease phenotype-associated VAR_000317 phenoCommon Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] VAR_000319 commonName VAR_000319 VAR_000319 disease phenotype-associated VAR_000319 phenoCommon Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] VAR_000320 commonName VAR_000320 VAR_000320 disease phenotype-associated VAR_000320 phenoCommon Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] VAR_000321 commonName VAR_000321 VAR_000321 disease phenotype-associated VAR_000321 phenoCommon Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] VAR_000328 commonName VAR_000328 VAR_000328 disease not phenotype-associated VAR_000329 commonName VAR_000329 VAR_000329 disease not phenotype-associated VAR_000330 commonName VAR_000330 VAR_000330 disease not phenotype-associated VAR_000332 commonName VAR_000332 VAR_000332 disease phenotype-associated VAR_000332 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] VAR_000333 commonName VAR_000333 VAR_000333 disease phenotype-associated VAR_000333 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] VAR_000334 commonName VAR_000334 VAR_000334 disease phenotype-associated VAR_000334 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] VAR_000335 commonName VAR_000335 VAR_000335 disease phenotype-associated VAR_000335 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] VAR_000336 commonName VAR_000336 VAR_000336 disease phenotype-associated VAR_000336 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] VAR_000337 commonName VAR_000337 VAR_000337 disease phenotype-associated VAR_000337 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] VAR_000338 commonName VAR_000338 VAR_000338 disease phenotype-associated VAR_000338 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] VAR_000339 commonName VAR_000339 VAR_000339 disease phenotype-associated VAR_000339 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] VAR_000341 commonName VAR_000341 VAR_000341 disease phenotype-associated VAR_000341 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] VAR_000342 commonName VAR_000342 VAR_000342 disease phenotype-associated VAR_000342 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] VAR_000343 commonName VAR_000343 VAR_000343 disease phenotype-associated VAR_000343 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] VAR_000344 commonName VAR_000344 VAR_000344 disease phenotype-associated VAR_000344 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] VAR_000345 commonName VAR_000345 VAR_000345 disease phenotype-associated VAR_000345 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] VAR_000347 commonName VAR_000347 VAR_000347 disease phenotype-associated VAR_000347 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] VAR_000348 commonName VAR_000348 VAR_000348 disease phenotype-associated VAR_000348 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] VAR_000349 commonName VAR_000349 VAR_000349 disease phenotype-associated VAR_000349 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] VAR_000350 commonName VAR_000350 VAR_000350 disease phenotype-associated VAR_000350 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] VAR_000352 commonName VAR_000352 VAR_000352 disease phenotype-associated VAR_000352 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] VAR_000353 commonName VAR_000353 VAR_000353 disease phenotype-associated VAR_000353 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] VAR_000354 commonName VAR_000354 VAR_000354 disease phenotype-associated VAR_000354 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] VAR_000355 commonName VAR_000355 VAR_000355 disease phenotype-associated VAR_000355 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] VAR_000356 commonName VAR_000356 VAR_000356 disease phenotype-associated VAR_000356 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] VAR_000357 commonName VAR_000357 VAR_000357 disease phenotype-associated VAR_000357 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] VAR_000358 commonName VAR_000358 VAR_000358 disease phenotype-associated VAR_000358 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] VAR_000359 commonName VAR_000359 VAR_000359 disease phenotype-associated VAR_000359 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] VAR_000360 commonName VAR_000360 VAR_000360 disease phenotype-associated VAR_000360 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] VAR_000361 commonName VAR_000361 VAR_000361 disease phenotype-associated VAR_000361 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] VAR_000362 commonName VAR_000362 VAR_000362 disease phenotype-associated VAR_000362 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] VAR_000363 commonName VAR_000363 VAR_000363 disease phenotype-associated VAR_000363 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] VAR_000366 commonName VAR_000366 VAR_000366 disease phenotype-associated VAR_000366 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000367 commonName VAR_000367 VAR_000367 disease phenotype-associated VAR_000367 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000368 commonName VAR_000368 VAR_000368 disease phenotype-associated VAR_000368 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000369 commonName VAR_000369 VAR_000369 disease phenotype-associated VAR_000369 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000370 commonName VAR_000370 VAR_000370 disease phenotype-associated VAR_000370 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000371 commonName VAR_000371 VAR_000371 disease phenotype-associated VAR_000371 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000372 commonName VAR_000372 VAR_000372 disease phenotype-associated VAR_000372 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000373 commonName VAR_000373 VAR_000373 disease phenotype-associated VAR_000373 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000374 commonName VAR_000374 VAR_000374 disease phenotype-associated VAR_000374 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000375 commonName VAR_000375 VAR_000375 disease phenotype-associated VAR_000375 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000376 commonName VAR_000376 VAR_000376 disease phenotype-associated VAR_000376 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000377 commonName VAR_000377 VAR_000377 disease phenotype-associated VAR_000377 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000378 commonName VAR_000378 VAR_000378 disease phenotype-associated VAR_000378 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000379 commonName VAR_000379 VAR_000379 disease phenotype-associated VAR_000379 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000380 commonName VAR_000380 VAR_000380 disease phenotype-associated VAR_000380 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000381 commonName VAR_000381 VAR_000381 disease phenotype-associated VAR_000381 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000382 commonName VAR_000382 VAR_000382 disease phenotype-associated VAR_000382 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000383 commonName VAR_000383 VAR_000383 disease phenotype-associated VAR_000383 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000384 commonName VAR_000384 VAR_000384 disease phenotype-associated VAR_000384 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000385 commonName VAR_000385 VAR_000385 disease phenotype-associated VAR_000385 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000386 commonName VAR_000386 VAR_000386 disease phenotype-associated VAR_000386 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000387 commonName VAR_000387 VAR_000387 disease phenotype-associated VAR_000387 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000388 commonName VAR_000388 VAR_000388 disease phenotype-associated VAR_000388 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000389 commonName VAR_000389 VAR_000389 disease phenotype-associated VAR_000389 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000390 commonName VAR_000390 VAR_000390 disease not phenotype-associated VAR_000391 commonName VAR_000391 VAR_000391 disease not phenotype-associated VAR_000392 commonName VAR_000392 VAR_000392 disease phenotype-associated VAR_000392 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000393 commonName VAR_000393 VAR_000393 disease phenotype-associated VAR_000393 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000394 commonName VAR_000394 VAR_000394 disease phenotype-associated VAR_000394 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000395 commonName VAR_000395 VAR_000395 disease phenotype-associated VAR_000395 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000396 commonName VAR_000396 VAR_000396 disease phenotype-associated VAR_000396 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000397 commonName VAR_000397 VAR_000397 disease phenotype-associated VAR_000397 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000398 commonName VAR_000398 VAR_000398 disease phenotype-associated VAR_000398 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000399 commonName VAR_000399 VAR_000399 disease phenotype-associated VAR_000399 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000400 commonName VAR_000400 VAR_000400 disease phenotype-associated VAR_000400 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000401 commonName VAR_000401 VAR_000401 disease phenotype-associated VAR_000401 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000402 commonName VAR_000402 VAR_000402 disease phenotype-associated VAR_000402 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000403 commonName VAR_000403 VAR_000403 disease phenotype-associated VAR_000403 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000404 commonName VAR_000404 VAR_000404 disease phenotype-associated VAR_000404 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000405 commonName VAR_000405 VAR_000405 disease phenotype-associated VAR_000405 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000406 commonName VAR_000406 VAR_000406 disease phenotype-associated VAR_000406 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000407 commonName VAR_000407 VAR_000407 disease phenotype-associated VAR_000407 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000408 commonName VAR_000408 VAR_000408 disease phenotype-associated VAR_000408 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000409 commonName VAR_000409 VAR_000409 disease phenotype-associated VAR_000409 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000410 commonName VAR_000410 VAR_000410 disease phenotype-associated VAR_000410 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000411 commonName VAR_000411 VAR_000411 disease phenotype-associated VAR_000411 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000412 commonName VAR_000412 VAR_000412 disease phenotype-associated VAR_000412 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000413 commonName VAR_000413 VAR_000413 disease phenotype-associated VAR_000413 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000414 commonName VAR_000414 VAR_000414 disease phenotype-associated VAR_000414 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000415 commonName VAR_000415 VAR_000415 disease phenotype-associated VAR_000415 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000416 commonName VAR_000416 VAR_000416 disease phenotype-associated VAR_000416 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000417 commonName VAR_000417 VAR_000417 disease phenotype-associated VAR_000417 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000418 commonName VAR_000418 VAR_000418 disease phenotype-associated VAR_000418 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000419 commonName VAR_000419 VAR_000419 disease phenotype-associated VAR_000419 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000420 commonName VAR_000420 VAR_000420 disease phenotype-associated VAR_000420 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000421 commonName VAR_000421 VAR_000421 disease phenotype-associated VAR_000421 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000422 commonName VAR_000422 VAR_000422 disease phenotype-associated VAR_000422 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_000423 commonName VAR_000423 VAR_000423 disease phenotype-associated VAR_000423 phenoCommon Isovaleric acidemia (IVA) [MIM:243500] VAR_000424 commonName VAR_000424 VAR_000424 disease phenotype-associated VAR_000424 phenoCommon Isovaleric acidemia (IVA) [MIM:243500] VAR_000426 commonName VAR_000426 VAR_000426 disease not phenotype-associated VAR_000430 commonName VAR_000430 VAR_000430 disease not phenotype-associated VAR_000431 commonName VAR_000431 VAR_000431 disease phenotype-associated VAR_000431 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000432 commonName VAR_000432 VAR_000432 disease phenotype-associated VAR_000432 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000433 commonName VAR_000433 VAR_000433 disease phenotype-associated VAR_000433 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000434 commonName VAR_000434 VAR_000434 disease phenotype-associated VAR_000434 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000435 commonName VAR_000435 VAR_000435 disease phenotype-associated VAR_000435 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000436 commonName VAR_000436 VAR_000436 disease phenotype-associated VAR_000436 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000437 commonName VAR_000437 VAR_000437 disease phenotype-associated VAR_000437 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000438 commonName VAR_000438 VAR_000438 disease phenotype-associated VAR_000438 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000439 commonName VAR_000439 VAR_000439 disease phenotype-associated VAR_000439 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000440 commonName VAR_000440 VAR_000440 disease phenotype-associated VAR_000440 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000441 commonName VAR_000441 VAR_000441 disease phenotype-associated VAR_000441 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000442 commonName VAR_000442 VAR_000442 disease phenotype-associated VAR_000442 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000443 commonName VAR_000443 VAR_000443 disease phenotype-associated VAR_000443 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000444 commonName VAR_000444 VAR_000444 disease phenotype-associated VAR_000444 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000445 commonName VAR_000445 VAR_000445 disease phenotype-associated VAR_000445 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000447 commonName VAR_000447 VAR_000447 disease phenotype-associated VAR_000447 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000448 commonName VAR_000448 VAR_000448 disease phenotype-associated VAR_000448 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000450 commonName VAR_000450 VAR_000450 disease phenotype-associated VAR_000450 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000451 commonName VAR_000451 VAR_000451 disease phenotype-associated VAR_000451 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000452 commonName VAR_000452 VAR_000452 disease phenotype-associated VAR_000452 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000453 commonName VAR_000453 VAR_000453 disease phenotype-associated VAR_000453 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000454 commonName VAR_000454 VAR_000454 disease phenotype-associated VAR_000454 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000455 commonName VAR_000455 VAR_000455 disease phenotype-associated VAR_000455 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000456 commonName VAR_000456 VAR_000456 disease phenotype-associated VAR_000456 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000457 commonName VAR_000457 VAR_000457 disease phenotype-associated VAR_000457 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000458 commonName VAR_000458 VAR_000458 disease phenotype-associated VAR_000458 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000459 commonName VAR_000459 VAR_000459 disease phenotype-associated VAR_000459 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000460 commonName VAR_000460 VAR_000460 disease phenotype-associated VAR_000460 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000461 commonName VAR_000461 VAR_000461 disease phenotype-associated VAR_000461 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000462 commonName VAR_000462 VAR_000462 disease phenotype-associated VAR_000462 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000463 commonName VAR_000463 VAR_000463 disease phenotype-associated VAR_000463 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000464 commonName VAR_000464 VAR_000464 disease phenotype-associated VAR_000464 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000465 commonName VAR_000465 VAR_000465 disease phenotype-associated VAR_000465 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000466 commonName VAR_000466 VAR_000466 disease phenotype-associated VAR_000466 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000467 commonName VAR_000467 VAR_000467 disease phenotype-associated VAR_000467 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000468 commonName VAR_000468 VAR_000468 disease phenotype-associated VAR_000468 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000469 commonName VAR_000469 VAR_000469 disease phenotype-associated VAR_000469 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000471 commonName VAR_000471 VAR_000471 disease phenotype-associated VAR_000471 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000472 commonName VAR_000472 VAR_000472 disease phenotype-associated VAR_000472 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000473 commonName VAR_000473 VAR_000473 disease phenotype-associated VAR_000473 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000474 commonName VAR_000474 VAR_000474 disease phenotype-associated VAR_000474 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000475 commonName VAR_000475 VAR_000475 disease phenotype-associated VAR_000475 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000476 commonName VAR_000476 VAR_000476 disease phenotype-associated VAR_000476 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000477 commonName VAR_000477 VAR_000477 disease phenotype-associated VAR_000477 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000478 commonName VAR_000478 VAR_000478 disease phenotype-associated VAR_000478 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000479 commonName VAR_000479 VAR_000479 disease phenotype-associated VAR_000479 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000480 commonName VAR_000480 VAR_000480 disease phenotype-associated VAR_000480 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000481 commonName VAR_000481 VAR_000481 disease phenotype-associated VAR_000481 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000482 commonName VAR_000482 VAR_000482 disease phenotype-associated VAR_000482 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000483 commonName VAR_000483 VAR_000483 disease phenotype-associated VAR_000483 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000484 commonName VAR_000484 VAR_000484 disease phenotype-associated VAR_000484 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000485 commonName VAR_000485 VAR_000485 disease phenotype-associated VAR_000485 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000486 commonName VAR_000486 VAR_000486 disease phenotype-associated VAR_000486 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000487 commonName VAR_000487 VAR_000487 disease phenotype-associated VAR_000487 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000488 commonName VAR_000488 VAR_000488 disease phenotype-associated VAR_000488 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000489 commonName VAR_000489 VAR_000489 disease phenotype-associated VAR_000489 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000491 commonName VAR_000491 VAR_000491 disease phenotype-associated VAR_000491 phenoCommon Fabry disease (FD) [MIM:301500] VAR_000493 commonName VAR_000493 VAR_000496 commonName VAR_000496 VAR_000496 disease phenotype-associated VAR_000496 phenoCommon Schindler disease (SCHIND) [MIM:609241] VAR_000497 commonName VAR_000497 VAR_000497 disease phenotype-associated VAR_000497 phenoCommon Schindler disease (SCHIND) [MIM:609241] VAR_000498 commonName VAR_000498 VAR_000498 disease phenotype-associated VAR_000498 phenoCommon Kanzaki disease (KANZD) [MIM:609242] VAR_000499 commonName VAR_000499 VAR_000500 commonName VAR_000500 VAR_000501 commonName VAR_000501 VAR_000502 commonName VAR_000502 VAR_000503 commonName VAR_000503 VAR_000504 commonName VAR_000504 VAR_000505 commonName VAR_000505 VAR_000506 commonName VAR_000506 VAR_000507 commonName VAR_000507 VAR_000508 commonName VAR_000508 VAR_000509 commonName VAR_000509 VAR_000510 commonName VAR_000510 VAR_000511 commonName VAR_000511 VAR_000512 commonName VAR_000512 VAR_000513 commonName VAR_000513 VAR_000514 commonName VAR_000514 VAR_000514 disease phenotype-associated VAR_000514 phenoCommon Familial dysalbuminemic hyperthyroxinemia (FDH) [MIM:103600] VAR_000515 commonName VAR_000515 VAR_000516 commonName VAR_000516 VAR_000517 commonName VAR_000517 VAR_000518 commonName VAR_000518 VAR_000519 commonName VAR_000519 VAR_000520 commonName VAR_000520 VAR_000521 commonName VAR_000521 VAR_000522 commonName VAR_000522 VAR_000523 commonName VAR_000523 VAR_000524 commonName VAR_000524 VAR_000525 commonName VAR_000525 VAR_000526 commonName VAR_000526 VAR_000527 commonName VAR_000527 VAR_000528 commonName VAR_000528 VAR_000529 commonName VAR_000529 VAR_000530 commonName VAR_000530 VAR_000531 commonName VAR_000531 VAR_000532 commonName VAR_000532 VAR_000533 commonName VAR_000533 VAR_000550 commonName VAR_000550 VAR_000550 disease phenotype-associated VAR_000550 phenoCommon Glycogen storage disease type 12 (GSD12) [MIM:611881] VAR_000551 commonName VAR_000551 VAR_000551 disease phenotype-associated VAR_000551 phenoCommon Hereditary fructose intolerance (HFI) [MIM:229600] VAR_000552 commonName VAR_000552 VAR_000553 commonName VAR_000553 VAR_000553 disease phenotype-associated VAR_000553 phenoCommon Hereditary fructose intolerance (HFI) [MIM:229600] VAR_000554 commonName VAR_000554 VAR_000554 disease phenotype-associated VAR_000554 phenoCommon Hereditary fructose intolerance (HFI) [MIM:229600] VAR_000555 commonName VAR_000555 VAR_000555 disease phenotype-associated VAR_000555 phenoCommon Hereditary fructose intolerance (HFI) [MIM:229600] VAR_000556 commonName VAR_000556 VAR_000556 disease phenotype-associated VAR_000556 phenoCommon Hereditary fructose intolerance (HFI) [MIM:229600] VAR_000557 commonName VAR_000557 VAR_000557 disease phenotype-associated VAR_000557 phenoCommon Hereditary fructose intolerance (HFI) [MIM:229600] VAR_000558 commonName VAR_000558 VAR_000558 disease phenotype-associated VAR_000558 phenoCommon Hereditary fructose intolerance (HFI) [MIM:229600] VAR_000560 commonName VAR_000560 VAR_000560 disease phenotype-associated VAR_000560 phenoCommon Tyrosinemia type 2 (TYRO2) [MIM:276600] VAR_000561 commonName VAR_000561 VAR_000561 disease not phenotype-associated VAR_000562 commonName VAR_000562 VAR_000562 disease phenotype-associated VAR_000562 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751] VAR_000563 commonName VAR_000563 VAR_000563 disease phenotype-associated VAR_000563 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751] VAR_000564 commonName VAR_000564 VAR_000564 disease phenotype-associated VAR_000564 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751] VAR_000565 commonName VAR_000565 VAR_000565 disease phenotype-associated VAR_000565 phenoCommon Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] VAR_000566 commonName VAR_000566 VAR_000566 disease phenotype-associated VAR_000566 phenoCommon Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] VAR_000567 commonName VAR_000567 VAR_000567 disease phenotype-associated VAR_000567 phenoCommon Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] VAR_000568 commonName VAR_000568 VAR_000568 disease phenotype-associated VAR_000568 phenoCommon Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] VAR_000569 commonName VAR_000569 VAR_000569 disease phenotype-associated VAR_000569 phenoCommon Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] VAR_000570 commonName VAR_000570 VAR_000570 disease phenotype-associated VAR_000570 phenoCommon Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] VAR_000572 commonName VAR_000572 VAR_000572 disease phenotype-associated VAR_000572 phenoCommon Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] VAR_000573 commonName VAR_000573 VAR_000573 disease phenotype-associated VAR_000573 phenoCommon Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] VAR_000574 commonName VAR_000574 VAR_000574 disease phenotype-associated VAR_000574 phenoCommon Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] VAR_000575 commonName VAR_000575 VAR_000575 disease phenotype-associated VAR_000575 phenoCommon Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] VAR_000576 commonName VAR_000576 VAR_000576 disease phenotype-associated VAR_000576 phenoCommon Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] VAR_000577 commonName VAR_000577 VAR_000577 disease phenotype-associated VAR_000577 phenoCommon Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] VAR_000578 commonName VAR_000578 VAR_000578 disease phenotype-associated VAR_000578 phenoCommon Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] VAR_000587 commonName VAR_000587 VAR_000587 disease not phenotype-associated VAR_000588 commonName VAR_000588 VAR_000588 disease phenotype-associated VAR_000588 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900] VAR_000589 commonName VAR_000589 VAR_000589 disease phenotype-associated VAR_000589 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900] VAR_000590 commonName VAR_000590 VAR_000590 disease phenotype-associated VAR_000590 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900] VAR_000591 commonName VAR_000591 VAR_000591 disease phenotype-associated VAR_000591 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900] VAR_000595 commonName VAR_000595 VAR_000595 disease not phenotype-associated VAR_000596 commonName VAR_000596 VAR_000596 disease phenotype-associated VAR_000596 phenoCommon Spherocytosis type 1 (SPH1) [MIM:182900] VAR_000597 commonName VAR_000597 VAR_000597 disease not phenotype-associated VAR_000598 commonName VAR_000598 VAR_000598 disease not phenotype-associated VAR_000599 commonName VAR_000599 VAR_000599 disease not phenotype-associated VAR_000600 commonName VAR_000600 VAR_000600 disease not phenotype-associated VAR_000601 commonName VAR_000601 VAR_000601 disease not phenotype-associated VAR_000602 commonName VAR_000602 VAR_000605 commonName VAR_000605 VAR_000606 commonName VAR_000606 VAR_000606 disease not phenotype-associated VAR_000607 commonName VAR_000607 VAR_000608 commonName VAR_000608 VAR_000608 disease not phenotype-associated VAR_000609 commonName VAR_000609 VAR_000609 disease phenotype-associated VAR_000609 phenoCommon Amyloid polyneuropathy-nephropathy Iowa type (AMYLIOWA) VAR_000610 commonName VAR_000610 VAR_000610 disease phenotype-associated VAR_000610 phenoCommon Amyloidosis type 8 (AMYL8) [MIM:105200] VAR_000611 commonName VAR_000611 VAR_000611 disease not phenotype-associated VAR_000612 commonName VAR_000612 VAR_000613 commonName VAR_000613 VAR_000615 commonName VAR_000615 VAR_000615 disease not phenotype-associated VAR_000616 commonName VAR_000616 VAR_000617 commonName VAR_000617 VAR_000618 commonName VAR_000618 VAR_000619 commonName VAR_000619 VAR_000619 disease not phenotype-associated VAR_000620 commonName VAR_000620 VAR_000621 commonName VAR_000621 VAR_000622 commonName VAR_000622 VAR_000622 disease not phenotype-associated VAR_000623 commonName VAR_000623 VAR_000623 disease not phenotype-associated VAR_000624 commonName VAR_000624 VAR_000624 disease not phenotype-associated VAR_000625 commonName VAR_000625 VAR_000626 commonName VAR_000626 VAR_000626 disease not phenotype-associated VAR_000627 commonName VAR_000627 VAR_000628 commonName VAR_000628 VAR_000628 disease not phenotype-associated VAR_000629 commonName VAR_000629 VAR_000630 commonName VAR_000630 VAR_000631 commonName VAR_000631 VAR_000631 disease not phenotype-associated VAR_000632 commonName VAR_000632 VAR_000632 disease not phenotype-associated VAR_000633 commonName VAR_000633 VAR_000633 disease not phenotype-associated VAR_000634 commonName VAR_000634 VAR_000634 disease not phenotype-associated VAR_000635 commonName VAR_000635 VAR_000636 commonName VAR_000636 VAR_000636 disease not phenotype-associated VAR_000637 commonName VAR_000637 VAR_000637 disease not phenotype-associated VAR_000643 commonName VAR_000643 VAR_000643 disease phenotype-associated VAR_000643 phenoCommon Hyperalphalipoproteinemia type 2 (HALP2) [MIM:614028] VAR_000644 commonName VAR_000644 VAR_000645 commonName VAR_000645 VAR_000645 disease not phenotype-associated VAR_000646 commonName VAR_000646 VAR_000646 disease phenotype-associated VAR_000646 phenoCommon Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741] VAR_000647 commonName VAR_000647 VAR_000647 disease not phenotype-associated VAR_000648 commonName VAR_000648 VAR_000648 disease not phenotype-associated VAR_000649 commonName VAR_000649 VAR_000649 disease not phenotype-associated VAR_000650 commonName VAR_000650 VAR_000650 disease not phenotype-associated VAR_000651 commonName VAR_000651 VAR_000651 disease not phenotype-associated VAR_000652 commonName VAR_000652 VAR_000652 disease phenotype-associated VAR_000652 phenoCommon Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741] VAR_000653 commonName VAR_000653 VAR_000653 disease not phenotype-associated VAR_000655 commonName VAR_000655 VAR_000655 disease not phenotype-associated VAR_000656 commonName VAR_000656 VAR_000656 disease phenotype-associated VAR_000656 phenoCommon Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741] VAR_000657 commonName VAR_000657 VAR_000657 disease phenotype-associated VAR_000657 phenoCommon Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741] VAR_000658 commonName VAR_000658 VAR_000658 disease phenotype-associated VAR_000658 phenoCommon Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741] VAR_000659 commonName VAR_000659 VAR_000659 disease phenotype-associated VAR_000659 phenoCommon Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741] VAR_000660 commonName VAR_000660 VAR_000661 commonName VAR_000661 VAR_000661 disease phenotype-associated VAR_000661 phenoCommon Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741] VAR_000662 commonName VAR_000662 VAR_000662 disease phenotype-associated VAR_000662 phenoCommon Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741] VAR_000663 commonName VAR_000663 VAR_000663 disease not phenotype-associated VAR_000664 commonName VAR_000664 VAR_000664 disease phenotype-associated VAR_000664 phenoCommon Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741] VAR_000665 commonName VAR_000665 VAR_000665 disease not phenotype-associated VAR_000666 commonName VAR_000666 VAR_000666 disease not phenotype-associated VAR_000667 commonName VAR_000667 VAR_000667 disease not phenotype-associated VAR_000669 commonName VAR_000669 VAR_000669 disease not phenotype-associated VAR_000670 commonName VAR_000670 VAR_000670 disease not phenotype-associated VAR_000671 commonName VAR_000671 VAR_000671 disease not phenotype-associated VAR_000672 commonName VAR_000672 VAR_000672 disease not phenotype-associated VAR_000673 commonName VAR_000673 VAR_000673 disease not phenotype-associated VAR_000676 commonName VAR_000676 VAR_000676 disease phenotype-associated VAR_000676 phenoCommon Arginosuccinic aciduria (ARGINSA) [MIM:207900] VAR_000677 commonName VAR_000677 VAR_000677 disease phenotype-associated VAR_000677 phenoCommon Arginosuccinic aciduria (ARGINSA) [MIM:207900] VAR_000678 commonName VAR_000678 VAR_000678 disease phenotype-associated VAR_000678 phenoCommon Arginosuccinic aciduria (ARGINSA) [MIM:207900] VAR_000679 commonName VAR_000679 VAR_000679 disease phenotype-associated VAR_000679 phenoCommon Arginosuccinic aciduria (ARGINSA) [MIM:207900] VAR_000680 commonName VAR_000680 VAR_000680 disease phenotype-associated VAR_000680 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] VAR_000681 commonName VAR_000681 VAR_000681 disease phenotype-associated VAR_000681 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_000682 commonName VAR_000682 VAR_000682 disease phenotype-associated VAR_000682 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_000683 commonName VAR_000683 VAR_000683 disease phenotype-associated VAR_000683 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_000684 commonName VAR_000684 VAR_000684 disease phenotype-associated VAR_000684 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_000685 commonName VAR_000685 VAR_000685 disease phenotype-associated VAR_000685 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_000686 commonName VAR_000686 VAR_000686 disease phenotype-associated VAR_000686 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_000687 commonName VAR_000687 VAR_000687 disease phenotype-associated VAR_000687 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_000688 commonName VAR_000688 VAR_000688 disease phenotype-associated VAR_000688 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_000689 commonName VAR_000689 VAR_000689 disease phenotype-associated VAR_000689 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_000690 commonName VAR_000690 VAR_000690 disease phenotype-associated VAR_000690 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_000691 commonName VAR_000691 VAR_000691 disease phenotype-associated VAR_000691 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_000692 commonName VAR_000692 VAR_000692 disease phenotype-associated VAR_000692 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_000693 commonName VAR_000693 VAR_000693 disease phenotype-associated VAR_000693 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_000694 commonName VAR_000694 VAR_000694 disease phenotype-associated VAR_000694 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_000695 commonName VAR_000695 VAR_000695 disease not phenotype-associated VAR_000696 commonName VAR_000696 VAR_000696 disease phenotype-associated VAR_000696 phenoCommon Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050] VAR_000697 commonName VAR_000697 VAR_000697 disease phenotype-associated VAR_000697 phenoCommon Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050] VAR_000699 commonName VAR_000699 VAR_000699 disease phenotype-associated VAR_000699 phenoCommon Menkes disease (MNKD) [MIM:309400] VAR_000700 commonName VAR_000700 VAR_000700 disease phenotype-associated VAR_000700 phenoCommon Menkes disease (MNKD) [MIM:309400] VAR_000701 commonName VAR_000701 VAR_000701 disease phenotype-associated VAR_000701 phenoCommon Menkes disease (MNKD) [MIM:309400] VAR_000702 commonName VAR_000702 VAR_000702 disease phenotype-associated VAR_000702 phenoCommon Menkes disease (MNKD) [MIM:309400] VAR_000703 commonName VAR_000703 VAR_000703 disease phenotype-associated VAR_000703 phenoCommon Wilson disease (WD) [MIM:277900] VAR_000704 commonName VAR_000704 VAR_000704 disease not phenotype-associated VAR_000705 commonName VAR_000705 VAR_000705 disease not phenotype-associated VAR_000706 commonName VAR_000706 VAR_000706 disease not phenotype-associated VAR_000707 commonName VAR_000707 VAR_000707 disease not phenotype-associated VAR_000708 commonName VAR_000708 VAR_000708 disease not phenotype-associated VAR_000709 commonName VAR_000709 VAR_000709 disease not phenotype-associated VAR_000710 commonName VAR_000710 VAR_000710 disease phenotype-associated VAR_000710 phenoCommon Wilson disease (WD) [MIM:277900] VAR_000711 commonName VAR_000711 VAR_000711 disease not phenotype-associated VAR_000712 commonName VAR_000712 VAR_000712 disease phenotype-associated VAR_000712 phenoCommon Wilson disease (WD) [MIM:277900] VAR_000713 commonName VAR_000713 VAR_000713 disease phenotype-associated VAR_000713 phenoCommon Wilson disease (WD) [MIM:277900] VAR_000714 commonName VAR_000714 VAR_000714 disease phenotype-associated VAR_000714 phenoCommon Wilson disease (WD) [MIM:277900] VAR_000715 commonName VAR_000715 VAR_000715 disease phenotype-associated VAR_000715 phenoCommon Wilson disease (WD) [MIM:277900] VAR_000716 commonName VAR_000716 VAR_000716 disease phenotype-associated VAR_000716 phenoCommon Wilson disease (WD) [MIM:277900] VAR_000717 commonName VAR_000717 VAR_000717 disease phenotype-associated VAR_000717 phenoCommon Wilson disease (WD) [MIM:277900] VAR_000718 commonName VAR_000718 VAR_000718 disease phenotype-associated VAR_000718 phenoCommon Wilson disease (WD) [MIM:277900] VAR_000719 commonName VAR_000719 VAR_000719 disease phenotype-associated VAR_000719 phenoCommon Wilson disease (WD) [MIM:277900] VAR_000720 commonName VAR_000720 VAR_000720 disease phenotype-associated VAR_000720 phenoCommon Wilson disease (WD) [MIM:277900] VAR_000721 commonName VAR_000721 VAR_000721 disease phenotype-associated VAR_000721 phenoCommon Wilson disease (WD) [MIM:277900] VAR_000722 commonName VAR_000722 VAR_000722 disease not phenotype-associated VAR_000798 commonName VAR_000798 VAR_000798 disease not phenotype-associated VAR_000799 commonName VAR_000799 VAR_000799 disease not phenotype-associated VAR_000800 commonName VAR_000800 VAR_000800 disease phenotype-associated VAR_000800 phenoCommon Spherocytosis type 4 (SPH4) [MIM:612653] VAR_000802 commonName VAR_000802 VAR_000802 disease phenotype-associated VAR_000802 phenoCommon Spherocytosis type 4 (SPH4) [MIM:612653] VAR_000809 commonName VAR_000809 VAR_000810 commonName VAR_000810 VAR_000810 disease phenotype-associated VAR_000810 phenoCommon Neurofibromatosis 2 (NF2) [MIM:101000] VAR_000811 commonName VAR_000811 VAR_000813 commonName VAR_000813 VAR_000813 disease phenotype-associated VAR_000813 phenoCommon Neurofibromatosis 2 (NF2) [MIM:101000] VAR_000814 commonName VAR_000814 VAR_000817 commonName VAR_000817 VAR_000818 commonName VAR_000818 VAR_000818 disease phenotype-associated VAR_000818 phenoCommon Neurofibromatosis 2 (NF2) [MIM:101000] VAR_000819 comment Breast ductal carcinoma VAR_000819 commonName VAR_000819 VAR_000820 commonName VAR_000820 VAR_000821 commonName VAR_000821 VAR_000821 disease phenotype-associated VAR_000821 phenoCommon Neurofibromatosis 2 (NF2) [MIM:101000] VAR_000822 commonName VAR_000822 VAR_000822 disease phenotype-associated VAR_000822 phenoCommon Neurofibromatosis 2 (NF2) [MIM:101000] VAR_000823 comment Melanoma VAR_000823 commonName VAR_000823 VAR_000824 commonName VAR_000824 VAR_000825 commonName VAR_000825 VAR_000825 disease phenotype-associated VAR_000825 phenoCommon Neurofibromatosis 2 (NF2) [MIM:101000] VAR_000826 commonName VAR_000826 VAR_000826 disease phenotype-associated VAR_000826 phenoCommon Neurofibromatosis 2 (NF2) [MIM:101000] VAR_000827 commonName VAR_000827 VAR_000827 disease not phenotype-associated VAR_000828 comment Non-Hodgkin lymphoma VAR_000828 commonName VAR_000828 VAR_000829 comment Non-Hodgkin lymphoma VAR_000829 commonName VAR_000829 VAR_000830 commonName VAR_000830 VAR_000830 disease phenotype-associated VAR_000830 phenoCommon Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161] VAR_000830 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000831 commonName VAR_000831 VAR_000831 disease phenotype-associated VAR_000831 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000832 commonName VAR_000832 VAR_000832 disease phenotype-associated VAR_000832 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000833 commonName VAR_000833 VAR_000833 disease phenotype-associated VAR_000833 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000834 commonName VAR_000834 VAR_000834 disease phenotype-associated VAR_000834 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000835 commonName VAR_000835 VAR_000835 disease phenotype-associated VAR_000835 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000836 commonName VAR_000836 VAR_000836 disease phenotype-associated VAR_000836 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000837 commonName VAR_000837 VAR_000837 disease phenotype-associated VAR_000837 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000838 commonName VAR_000838 VAR_000838 disease phenotype-associated VAR_000838 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000839 commonName VAR_000839 VAR_000839 disease phenotype-associated VAR_000839 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000840 commonName VAR_000840 VAR_000840 disease not phenotype-associated VAR_000841 commonName VAR_000841 VAR_000841 disease phenotype-associated VAR_000841 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000842 commonName VAR_000842 VAR_000842 disease phenotype-associated VAR_000842 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000843 commonName VAR_000843 VAR_000843 disease phenotype-associated VAR_000843 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000844 commonName VAR_000844 VAR_000844 disease phenotype-associated VAR_000844 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000845 commonName VAR_000845 VAR_000845 disease phenotype-associated VAR_000845 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000846 commonName VAR_000846 VAR_000846 disease phenotype-associated VAR_000846 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000847 commonName VAR_000847 VAR_000847 disease phenotype-associated VAR_000847 phenoCommon Bestrophinopathy autosomal recessive (ARB) [MIM:611809] VAR_000847 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000848 commonName VAR_000848 VAR_000848 disease phenotype-associated VAR_000848 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000849 commonName VAR_000849 VAR_000849 disease phenotype-associated VAR_000849 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000850 commonName VAR_000850 VAR_000850 disease phenotype-associated VAR_000850 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000851 commonName VAR_000851 VAR_000851 disease phenotype-associated VAR_000851 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000852 commonName VAR_000852 VAR_000852 disease phenotype-associated VAR_000852 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000853 commonName VAR_000853 VAR_000853 disease phenotype-associated VAR_000853 phenoCommon Retinitis pigmentosa type 50 (RP50) [MIM:613194] VAR_000854 commonName VAR_000854 VAR_000854 disease phenotype-associated VAR_000854 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000855 commonName VAR_000855 VAR_000855 disease phenotype-associated VAR_000855 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000856 commonName VAR_000856 VAR_000856 disease phenotype-associated VAR_000856 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000857 commonName VAR_000857 VAR_000857 disease phenotype-associated VAR_000857 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000858 commonName VAR_000858 VAR_000858 disease phenotype-associated VAR_000858 phenoCommon Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161] VAR_000858 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000860 commonName VAR_000860 VAR_000860 disease phenotype-associated VAR_000860 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000861 commonName VAR_000861 VAR_000861 disease phenotype-associated VAR_000861 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000862 commonName VAR_000862 VAR_000862 disease phenotype-associated VAR_000862 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000863 commonName VAR_000863 VAR_000863 disease phenotype-associated VAR_000863 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000864 commonName VAR_000864 VAR_000864 disease phenotype-associated VAR_000864 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000865 commonName VAR_000865 VAR_000865 disease phenotype-associated VAR_000865 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000866 commonName VAR_000866 VAR_000866 disease phenotype-associated VAR_000866 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000867 commonName VAR_000867 VAR_000867 disease phenotype-associated VAR_000867 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_000868 commonName VAR_000868 VAR_000868 disease phenotype-associated VAR_000868 phenoCommon Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161] VAR_000868 phenoCommon Bestrophinopathy autosomal recessive (ARB) [MIM:611809] VAR_000869 commonName VAR_000869 VAR_000869 disease phenotype-associated VAR_000869 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000870 commonName VAR_000870 VAR_000870 disease phenotype-associated VAR_000870 phenoCommon Hyperphenylalaninemia (HPA) [MIM:261600] VAR_000870 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000872 commonName VAR_000872 VAR_000872 disease phenotype-associated VAR_000872 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000873 commonName VAR_000873 VAR_000873 disease phenotype-associated VAR_000873 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000874 commonName VAR_000874 VAR_000874 disease phenotype-associated VAR_000874 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000875 commonName VAR_000875 VAR_000875 disease phenotype-associated VAR_000875 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000876 commonName VAR_000876 VAR_000876 disease phenotype-associated VAR_000876 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] VAR_000877 commonName VAR_000877 VAR_000877 disease phenotype-associated VAR_000877 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000878 commonName VAR_000878 VAR_000878 disease phenotype-associated VAR_000878 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000879 commonName VAR_000879 VAR_000879 disease phenotype-associated VAR_000879 phenoCommon Hyperphenylalaninemia (HPA) [MIM:261600] VAR_000879 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000880 commonName VAR_000880 VAR_000880 disease phenotype-associated VAR_000880 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000882 commonName VAR_000882 VAR_000882 disease phenotype-associated VAR_000882 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000883 commonName VAR_000883 VAR_000883 disease phenotype-associated VAR_000883 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000884 commonName VAR_000884 VAR_000884 disease phenotype-associated VAR_000884 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000885 commonName VAR_000885 VAR_000885 disease phenotype-associated VAR_000885 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000886 commonName VAR_000886 VAR_000886 disease phenotype-associated VAR_000886 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000887 commonName VAR_000887 VAR_000887 disease phenotype-associated VAR_000887 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000888 commonName VAR_000888 VAR_000888 disease phenotype-associated VAR_000888 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] VAR_000889 commonName VAR_000889 VAR_000889 disease phenotype-associated VAR_000889 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000891 commonName VAR_000891 VAR_000891 disease phenotype-associated VAR_000891 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] VAR_000892 commonName VAR_000892 VAR_000892 disease phenotype-associated VAR_000892 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000893 commonName VAR_000893 VAR_000893 disease phenotype-associated VAR_000893 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000894 commonName VAR_000894 VAR_000894 disease phenotype-associated VAR_000894 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000895 commonName VAR_000895 VAR_000895 disease phenotype-associated VAR_000895 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000896 commonName VAR_000896 VAR_000896 disease phenotype-associated VAR_000896 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000897 commonName VAR_000897 VAR_000897 disease phenotype-associated VAR_000897 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000898 commonName VAR_000898 VAR_000898 disease phenotype-associated VAR_000898 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000899 commonName VAR_000899 VAR_000899 disease phenotype-associated VAR_000899 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000900 commonName VAR_000900 VAR_000900 disease phenotype-associated VAR_000900 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000901 commonName VAR_000901 VAR_000901 disease phenotype-associated VAR_000901 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000902 commonName VAR_000902 VAR_000902 disease phenotype-associated VAR_000902 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000903 commonName VAR_000903 VAR_000903 disease phenotype-associated VAR_000903 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000904 commonName VAR_000904 VAR_000904 disease phenotype-associated VAR_000904 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000905 commonName VAR_000905 VAR_000905 disease phenotype-associated VAR_000905 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000906 commonName VAR_000906 VAR_000906 disease phenotype-associated VAR_000906 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000907 commonName VAR_000907 VAR_000907 disease phenotype-associated VAR_000907 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000908 commonName VAR_000908 VAR_000908 disease phenotype-associated VAR_000908 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000909 commonName VAR_000909 VAR_000909 disease phenotype-associated VAR_000909 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000910 commonName VAR_000910 VAR_000910 disease phenotype-associated VAR_000910 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000911 commonName VAR_000911 VAR_000911 disease phenotype-associated VAR_000911 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000912 commonName VAR_000912 VAR_000912 disease phenotype-associated VAR_000912 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000913 commonName VAR_000913 VAR_000913 disease phenotype-associated VAR_000913 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] VAR_000914 commonName VAR_000914 VAR_000914 disease phenotype-associated VAR_000914 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000915 commonName VAR_000915 VAR_000915 disease phenotype-associated VAR_000915 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000916 commonName VAR_000916 VAR_000916 disease phenotype-associated VAR_000916 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] VAR_000917 commonName VAR_000917 VAR_000917 disease phenotype-associated VAR_000917 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000918 commonName VAR_000918 VAR_000918 disease phenotype-associated VAR_000918 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000922 commonName VAR_000922 VAR_000922 disease phenotype-associated VAR_000922 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000923 commonName VAR_000923 VAR_000923 disease phenotype-associated VAR_000923 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] VAR_000924 commonName VAR_000924 VAR_000924 disease phenotype-associated VAR_000924 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000925 commonName VAR_000925 VAR_000925 disease phenotype-associated VAR_000925 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000926 commonName VAR_000926 VAR_000926 disease phenotype-associated VAR_000926 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000927 commonName VAR_000927 VAR_000927 disease phenotype-associated VAR_000927 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000928 commonName VAR_000928 VAR_000928 disease phenotype-associated VAR_000928 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000929 commonName VAR_000929 VAR_000929 disease phenotype-associated VAR_000929 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000930 commonName VAR_000930 VAR_000930 disease phenotype-associated VAR_000930 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000931 commonName VAR_000931 VAR_000931 disease phenotype-associated VAR_000931 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000932 commonName VAR_000932 VAR_000932 disease phenotype-associated VAR_000932 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000933 commonName VAR_000933 VAR_000933 disease phenotype-associated VAR_000933 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000934 commonName VAR_000934 VAR_000934 disease phenotype-associated VAR_000934 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000935 commonName VAR_000935 VAR_000935 disease phenotype-associated VAR_000935 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000936 commonName VAR_000936 VAR_000936 disease phenotype-associated VAR_000936 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000937 commonName VAR_000937 VAR_000937 disease phenotype-associated VAR_000937 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000938 commonName VAR_000938 VAR_000938 disease phenotype-associated VAR_000938 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] VAR_000939 commonName VAR_000939 VAR_000939 disease phenotype-associated VAR_000939 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000940 commonName VAR_000940 VAR_000940 disease phenotype-associated VAR_000940 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000941 commonName VAR_000941 VAR_000941 disease phenotype-associated VAR_000941 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000942 commonName VAR_000942 VAR_000942 disease phenotype-associated VAR_000942 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000943 commonName VAR_000943 VAR_000943 disease phenotype-associated VAR_000943 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] VAR_000943 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000944 commonName VAR_000944 VAR_000944 disease phenotype-associated VAR_000944 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000945 commonName VAR_000945 VAR_000945 disease phenotype-associated VAR_000945 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000946 commonName VAR_000946 VAR_000946 disease phenotype-associated VAR_000946 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000947 commonName VAR_000947 VAR_000947 disease phenotype-associated VAR_000947 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] VAR_000947 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000948 commonName VAR_000948 VAR_000948 disease phenotype-associated VAR_000948 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000949 commonName VAR_000949 VAR_000949 disease phenotype-associated VAR_000949 phenoCommon Hyperphenylalaninemia (HPA) [MIM:261600] VAR_000949 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] VAR_000949 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000950 commonName VAR_000950 VAR_000950 disease phenotype-associated VAR_000950 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000951 commonName VAR_000951 VAR_000951 disease phenotype-associated VAR_000951 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000952 commonName VAR_000952 VAR_000952 disease phenotype-associated VAR_000952 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000953 commonName VAR_000953 VAR_000953 disease phenotype-associated VAR_000953 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000954 commonName VAR_000954 VAR_000954 disease phenotype-associated VAR_000954 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000955 commonName VAR_000955 VAR_000955 disease phenotype-associated VAR_000955 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000956 commonName VAR_000956 VAR_000956 disease phenotype-associated VAR_000956 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000957 commonName VAR_000957 VAR_000957 disease phenotype-associated VAR_000957 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000958 commonName VAR_000958 VAR_000958 disease phenotype-associated VAR_000958 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000959 commonName VAR_000959 VAR_000959 disease phenotype-associated VAR_000959 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000960 commonName VAR_000960 VAR_000960 disease phenotype-associated VAR_000960 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000961 commonName VAR_000961 VAR_000961 disease phenotype-associated VAR_000961 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000962 commonName VAR_000962 VAR_000962 disease phenotype-associated VAR_000962 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000963 commonName VAR_000963 VAR_000963 disease phenotype-associated VAR_000963 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000964 commonName VAR_000964 VAR_000964 disease phenotype-associated VAR_000964 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000965 commonName VAR_000965 VAR_000965 disease phenotype-associated VAR_000965 phenoCommon Hyperphenylalaninemia (HPA) [MIM:261600] VAR_000965 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000966 commonName VAR_000966 VAR_000966 disease phenotype-associated VAR_000966 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000967 commonName VAR_000967 VAR_000967 disease phenotype-associated VAR_000967 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000968 commonName VAR_000968 VAR_000968 disease phenotype-associated VAR_000968 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000969 commonName VAR_000969 VAR_000969 disease phenotype-associated VAR_000969 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] VAR_000970 commonName VAR_000970 VAR_000970 disease phenotype-associated VAR_000970 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000971 commonName VAR_000971 VAR_000971 disease phenotype-associated VAR_000971 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000972 commonName VAR_000972 VAR_000972 disease phenotype-associated VAR_000972 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000973 commonName VAR_000973 VAR_000973 disease phenotype-associated VAR_000973 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000974 commonName VAR_000974 VAR_000974 disease phenotype-associated VAR_000974 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000975 commonName VAR_000975 VAR_000975 disease phenotype-associated VAR_000975 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000976 commonName VAR_000976 VAR_000976 disease phenotype-associated VAR_000976 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000977 commonName VAR_000977 VAR_000977 disease phenotype-associated VAR_000977 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000978 commonName VAR_000978 VAR_000978 disease phenotype-associated VAR_000978 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000979 commonName VAR_000979 VAR_000979 disease phenotype-associated VAR_000979 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000980 commonName VAR_000980 VAR_000980 disease phenotype-associated VAR_000980 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000981 commonName VAR_000981 VAR_000981 disease phenotype-associated VAR_000981 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000982 commonName VAR_000982 VAR_000982 disease phenotype-associated VAR_000982 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000983 commonName VAR_000983 VAR_000983 disease phenotype-associated VAR_000983 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000984 commonName VAR_000984 VAR_000984 disease phenotype-associated VAR_000984 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000985 commonName VAR_000985 VAR_000985 disease phenotype-associated VAR_000985 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000986 commonName VAR_000986 VAR_000986 disease phenotype-associated VAR_000986 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000987 commonName VAR_000987 VAR_000987 disease phenotype-associated VAR_000987 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000988 commonName VAR_000988 VAR_000988 disease phenotype-associated VAR_000988 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000989 commonName VAR_000989 VAR_000989 disease phenotype-associated VAR_000989 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000990 commonName VAR_000990 VAR_000990 disease phenotype-associated VAR_000990 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000991 commonName VAR_000991 VAR_000991 disease phenotype-associated VAR_000991 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000992 commonName VAR_000992 VAR_000992 disease phenotype-associated VAR_000992 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] VAR_000993 commonName VAR_000993 VAR_000993 disease phenotype-associated VAR_000993 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000994 commonName VAR_000994 VAR_000994 disease phenotype-associated VAR_000994 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000995 commonName VAR_000995 VAR_000995 disease phenotype-associated VAR_000995 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000996 commonName VAR_000996 VAR_000996 disease phenotype-associated VAR_000996 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000997 commonName VAR_000997 VAR_000997 disease phenotype-associated VAR_000997 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000998 commonName VAR_000998 VAR_000998 disease phenotype-associated VAR_000998 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_000999 commonName VAR_000999 VAR_000999 disease phenotype-associated VAR_000999 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001000 commonName VAR_001000 VAR_001000 disease phenotype-associated VAR_001000 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001001 commonName VAR_001001 VAR_001001 disease phenotype-associated VAR_001001 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001002 commonName VAR_001002 VAR_001002 disease phenotype-associated VAR_001002 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001003 commonName VAR_001003 VAR_001003 disease phenotype-associated VAR_001003 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001004 commonName VAR_001004 VAR_001004 disease phenotype-associated VAR_001004 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001005 commonName VAR_001005 VAR_001005 disease phenotype-associated VAR_001005 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001006 commonName VAR_001006 VAR_001006 disease phenotype-associated VAR_001006 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001007 commonName VAR_001007 VAR_001007 disease phenotype-associated VAR_001007 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001008 commonName VAR_001008 VAR_001008 disease phenotype-associated VAR_001008 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001009 commonName VAR_001009 VAR_001009 disease phenotype-associated VAR_001009 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001010 commonName VAR_001010 VAR_001010 disease phenotype-associated VAR_001010 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001011 commonName VAR_001011 VAR_001011 disease phenotype-associated VAR_001011 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001012 commonName VAR_001012 VAR_001012 disease phenotype-associated VAR_001012 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001013 commonName VAR_001013 VAR_001013 disease phenotype-associated VAR_001013 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001014 commonName VAR_001014 VAR_001014 disease phenotype-associated VAR_001014 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001015 commonName VAR_001015 VAR_001015 disease phenotype-associated VAR_001015 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001016 commonName VAR_001016 VAR_001016 disease phenotype-associated VAR_001016 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001019 commonName VAR_001019 VAR_001019 disease phenotype-associated VAR_001019 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001020 commonName VAR_001020 VAR_001020 disease phenotype-associated VAR_001020 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001021 commonName VAR_001021 VAR_001021 disease phenotype-associated VAR_001021 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001022 commonName VAR_001022 VAR_001022 disease phenotype-associated VAR_001022 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] VAR_001023 commonName VAR_001023 VAR_001023 disease phenotype-associated VAR_001023 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001024 commonName VAR_001024 VAR_001024 disease phenotype-associated VAR_001024 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001025 commonName VAR_001025 VAR_001025 disease phenotype-associated VAR_001025 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001026 commonName VAR_001026 VAR_001026 disease phenotype-associated VAR_001026 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001027 commonName VAR_001027 VAR_001027 disease phenotype-associated VAR_001027 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] VAR_001027 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001028 commonName VAR_001028 VAR_001028 disease phenotype-associated VAR_001028 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001029 commonName VAR_001029 VAR_001029 disease phenotype-associated VAR_001029 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001030 commonName VAR_001030 VAR_001030 disease phenotype-associated VAR_001030 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001031 commonName VAR_001031 VAR_001031 disease phenotype-associated VAR_001031 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001033 commonName VAR_001033 VAR_001033 disease phenotype-associated VAR_001033 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] VAR_001033 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001034 commonName VAR_001034 VAR_001034 disease phenotype-associated VAR_001034 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001035 commonName VAR_001035 VAR_001035 disease phenotype-associated VAR_001035 phenoCommon Hyperphenylalaninemia (HPA) [MIM:261600] VAR_001035 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001036 commonName VAR_001036 VAR_001036 disease phenotype-associated VAR_001036 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] VAR_001036 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001037 commonName VAR_001037 VAR_001037 disease phenotype-associated VAR_001037 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001038 commonName VAR_001038 VAR_001038 disease phenotype-associated VAR_001038 phenoCommon Hyperphenylalaninemia (HPA) [MIM:261600] VAR_001038 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001039 commonName VAR_001039 VAR_001039 disease phenotype-associated VAR_001039 phenoCommon Hyperphenylalaninemia (HPA) [MIM:261600] VAR_001039 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] VAR_001039 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001040 commonName VAR_001040 VAR_001040 disease phenotype-associated VAR_001040 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001041 commonName VAR_001041 VAR_001041 disease phenotype-associated VAR_001041 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001042 commonName VAR_001042 VAR_001042 disease phenotype-associated VAR_001042 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_001045 commonName VAR_001045 VAR_001045 disease phenotype-associated VAR_001045 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001046 commonName VAR_001046 VAR_001046 disease phenotype-associated VAR_001046 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001047 commonName VAR_001047 VAR_001047 disease phenotype-associated VAR_001047 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001048 commonName VAR_001048 VAR_001048 disease phenotype-associated VAR_001048 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001049 commonName VAR_001049 VAR_001049 disease not phenotype-associated VAR_001050 commonName VAR_001050 VAR_001050 disease phenotype-associated VAR_001050 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001051 commonName VAR_001051 VAR_001051 disease phenotype-associated VAR_001051 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001052 commonName VAR_001052 VAR_001052 disease phenotype-associated VAR_001052 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001053 commonName VAR_001053 VAR_001053 disease phenotype-associated VAR_001053 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001054 commonName VAR_001054 VAR_001054 disease phenotype-associated VAR_001054 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001055 commonName VAR_001055 VAR_001055 disease phenotype-associated VAR_001055 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001056 commonName VAR_001056 VAR_001056 disease phenotype-associated VAR_001056 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001057 commonName VAR_001057 VAR_001057 disease phenotype-associated VAR_001057 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001058 commonName VAR_001058 VAR_001058 disease phenotype-associated VAR_001058 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001059 commonName VAR_001059 VAR_001059 disease phenotype-associated VAR_001059 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001060 commonName VAR_001060 VAR_001060 disease phenotype-associated VAR_001060 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001061 commonName VAR_001061 VAR_001061 disease phenotype-associated VAR_001061 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001062 commonName VAR_001062 VAR_001062 disease phenotype-associated VAR_001062 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001063 commonName VAR_001063 VAR_001063 disease phenotype-associated VAR_001063 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001064 commonName VAR_001064 VAR_001064 disease phenotype-associated VAR_001064 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001065 commonName VAR_001065 VAR_001065 disease phenotype-associated VAR_001065 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001066 commonName VAR_001066 VAR_001066 disease phenotype-associated VAR_001066 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001067 commonName VAR_001067 VAR_001067 disease phenotype-associated VAR_001067 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001068 commonName VAR_001068 VAR_001068 disease phenotype-associated VAR_001068 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001069 commonName VAR_001069 VAR_001069 disease phenotype-associated VAR_001069 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001070 commonName VAR_001070 VAR_001070 disease phenotype-associated VAR_001070 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001071 commonName VAR_001071 VAR_001071 disease phenotype-associated VAR_001071 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001072 commonName VAR_001072 VAR_001072 disease phenotype-associated VAR_001072 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001073 commonName VAR_001073 VAR_001073 disease phenotype-associated VAR_001073 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001074 commonName VAR_001074 VAR_001074 disease phenotype-associated VAR_001074 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001075 commonName VAR_001075 VAR_001075 disease phenotype-associated VAR_001075 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001076 commonName VAR_001076 VAR_001076 disease phenotype-associated VAR_001076 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001077 commonName VAR_001077 VAR_001077 disease phenotype-associated VAR_001077 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001078 commonName VAR_001078 VAR_001078 disease phenotype-associated VAR_001078 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001079 commonName VAR_001079 VAR_001079 disease phenotype-associated VAR_001079 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001080 commonName VAR_001080 VAR_001080 disease phenotype-associated VAR_001080 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001081 commonName VAR_001081 VAR_001081 disease phenotype-associated VAR_001081 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001082 commonName VAR_001082 VAR_001082 disease phenotype-associated VAR_001082 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001083 commonName VAR_001083 VAR_001083 disease phenotype-associated VAR_001083 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001084 commonName VAR_001084 VAR_001084 disease phenotype-associated VAR_001084 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001085 commonName VAR_001085 VAR_001085 disease phenotype-associated VAR_001085 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001086 commonName VAR_001086 VAR_001086 disease phenotype-associated VAR_001086 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001087 commonName VAR_001087 VAR_001087 disease phenotype-associated VAR_001087 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001088 commonName VAR_001088 VAR_001088 disease phenotype-associated VAR_001088 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001089 commonName VAR_001089 VAR_001089 disease phenotype-associated VAR_001089 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001090 commonName VAR_001090 VAR_001090 disease phenotype-associated VAR_001090 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001091 commonName VAR_001091 VAR_001091 disease phenotype-associated VAR_001091 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001092 commonName VAR_001092 VAR_001092 disease phenotype-associated VAR_001092 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001093 commonName VAR_001093 VAR_001093 disease phenotype-associated VAR_001093 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001094 commonName VAR_001094 VAR_001094 disease phenotype-associated VAR_001094 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001095 commonName VAR_001095 VAR_001095 disease phenotype-associated VAR_001095 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001096 commonName VAR_001096 VAR_001096 disease phenotype-associated VAR_001096 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001097 commonName VAR_001097 VAR_001097 disease phenotype-associated VAR_001097 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001098 commonName VAR_001098 VAR_001098 disease phenotype-associated VAR_001098 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001099 commonName VAR_001099 VAR_001099 disease phenotype-associated VAR_001099 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001100 commonName VAR_001100 VAR_001100 disease phenotype-associated VAR_001100 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001101 commonName VAR_001101 VAR_001101 disease phenotype-associated VAR_001101 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001102 commonName VAR_001102 VAR_001102 disease phenotype-associated VAR_001102 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001103 commonName VAR_001103 VAR_001103 disease phenotype-associated VAR_001103 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001104 commonName VAR_001104 VAR_001104 disease phenotype-associated VAR_001104 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001105 commonName VAR_001105 VAR_001105 disease phenotype-associated VAR_001105 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001106 commonName VAR_001106 VAR_001106 disease phenotype-associated VAR_001106 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001107 commonName VAR_001107 VAR_001107 disease phenotype-associated VAR_001107 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001108 commonName VAR_001108 VAR_001108 disease phenotype-associated VAR_001108 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001109 commonName VAR_001109 VAR_001109 disease phenotype-associated VAR_001109 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001110 commonName VAR_001110 VAR_001110 disease phenotype-associated VAR_001110 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001111 commonName VAR_001111 VAR_001111 disease phenotype-associated VAR_001111 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001112 commonName VAR_001112 VAR_001112 disease phenotype-associated VAR_001112 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001113 commonName VAR_001113 VAR_001113 disease phenotype-associated VAR_001113 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001114 commonName VAR_001114 VAR_001114 disease phenotype-associated VAR_001114 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001115 commonName VAR_001115 VAR_001115 disease phenotype-associated VAR_001115 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001116 commonName VAR_001116 VAR_001116 disease phenotype-associated VAR_001116 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001117 commonName VAR_001117 VAR_001117 disease phenotype-associated VAR_001117 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001118 commonName VAR_001118 VAR_001118 disease phenotype-associated VAR_001118 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001119 commonName VAR_001119 VAR_001119 disease phenotype-associated VAR_001119 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001120 commonName VAR_001120 VAR_001120 disease phenotype-associated VAR_001120 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001121 commonName VAR_001121 VAR_001121 disease phenotype-associated VAR_001121 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001122 commonName VAR_001122 VAR_001122 disease phenotype-associated VAR_001122 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001123 commonName VAR_001123 VAR_001123 disease phenotype-associated VAR_001123 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001124 commonName VAR_001124 VAR_001124 disease phenotype-associated VAR_001124 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001125 commonName VAR_001125 VAR_001125 disease phenotype-associated VAR_001125 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001126 commonName VAR_001126 VAR_001126 disease phenotype-associated VAR_001126 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001128 commonName VAR_001128 VAR_001128 disease phenotype-associated VAR_001128 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001129 commonName VAR_001129 VAR_001129 disease phenotype-associated VAR_001129 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001130 commonName VAR_001130 VAR_001130 disease phenotype-associated VAR_001130 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001131 commonName VAR_001131 VAR_001131 disease phenotype-associated VAR_001131 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001132 commonName VAR_001132 VAR_001132 disease phenotype-associated VAR_001132 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001133 commonName VAR_001133 VAR_001133 disease phenotype-associated VAR_001133 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001134 commonName VAR_001134 VAR_001134 disease phenotype-associated VAR_001134 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001135 commonName VAR_001135 VAR_001135 disease phenotype-associated VAR_001135 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001136 commonName VAR_001136 VAR_001136 disease not phenotype-associated VAR_001137 commonName VAR_001137 VAR_001137 disease not phenotype-associated VAR_001138 commonName VAR_001138 VAR_001138 disease phenotype-associated VAR_001138 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001139 commonName VAR_001139 VAR_001139 disease phenotype-associated VAR_001139 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001140 commonName VAR_001140 VAR_001140 disease phenotype-associated VAR_001140 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001141 commonName VAR_001141 VAR_001141 disease phenotype-associated VAR_001141 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001142 commonName VAR_001142 VAR_001142 disease phenotype-associated VAR_001142 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001143 commonName VAR_001143 VAR_001143 disease phenotype-associated VAR_001143 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001144 commonName VAR_001144 VAR_001144 disease phenotype-associated VAR_001144 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001145 commonName VAR_001145 VAR_001145 disease phenotype-associated VAR_001145 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001146 commonName VAR_001146 VAR_001146 disease phenotype-associated VAR_001146 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001147 commonName VAR_001147 VAR_001147 disease phenotype-associated VAR_001147 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001148 commonName VAR_001148 VAR_001148 disease phenotype-associated VAR_001148 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001149 commonName VAR_001149 VAR_001149 disease phenotype-associated VAR_001149 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001150 commonName VAR_001150 VAR_001150 disease phenotype-associated VAR_001150 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001151 commonName VAR_001151 VAR_001151 disease phenotype-associated VAR_001151 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001152 commonName VAR_001152 VAR_001152 disease phenotype-associated VAR_001152 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001153 commonName VAR_001153 VAR_001153 disease phenotype-associated VAR_001153 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001154 commonName VAR_001154 VAR_001154 disease phenotype-associated VAR_001154 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001155 commonName VAR_001155 VAR_001155 disease phenotype-associated VAR_001155 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001156 commonName VAR_001156 VAR_001156 disease phenotype-associated VAR_001156 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001157 commonName VAR_001157 VAR_001157 disease phenotype-associated VAR_001157 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001158 commonName VAR_001158 VAR_001158 disease phenotype-associated VAR_001158 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001159 commonName VAR_001159 VAR_001159 disease phenotype-associated VAR_001159 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001160 commonName VAR_001160 VAR_001160 disease phenotype-associated VAR_001160 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001161 commonName VAR_001161 VAR_001161 disease phenotype-associated VAR_001161 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001162 commonName VAR_001162 VAR_001162 disease phenotype-associated VAR_001162 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001163 commonName VAR_001163 VAR_001163 disease phenotype-associated VAR_001163 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001164 commonName VAR_001164 VAR_001164 disease phenotype-associated VAR_001164 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001165 commonName VAR_001165 VAR_001165 disease phenotype-associated VAR_001165 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001166 commonName VAR_001166 VAR_001166 disease phenotype-associated VAR_001166 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001167 commonName VAR_001167 VAR_001167 disease phenotype-associated VAR_001167 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001168 commonName VAR_001168 VAR_001168 disease phenotype-associated VAR_001168 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001169 commonName VAR_001169 VAR_001169 disease phenotype-associated VAR_001169 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001170 commonName VAR_001170 VAR_001170 disease phenotype-associated VAR_001170 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001171 commonName VAR_001171 VAR_001171 disease phenotype-associated VAR_001171 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001172 commonName VAR_001172 VAR_001172 disease phenotype-associated VAR_001172 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001173 commonName VAR_001173 VAR_001173 disease phenotype-associated VAR_001173 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001174 commonName VAR_001174 VAR_001174 disease phenotype-associated VAR_001174 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001175 commonName VAR_001175 VAR_001175 disease phenotype-associated VAR_001175 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001176 commonName VAR_001176 VAR_001176 disease phenotype-associated VAR_001176 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001177 commonName VAR_001177 VAR_001177 disease phenotype-associated VAR_001177 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001178 commonName VAR_001178 VAR_001178 disease phenotype-associated VAR_001178 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001179 commonName VAR_001179 VAR_001179 disease phenotype-associated VAR_001179 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001180 commonName VAR_001180 VAR_001180 disease phenotype-associated VAR_001180 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001181 commonName VAR_001181 VAR_001181 disease phenotype-associated VAR_001181 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001182 commonName VAR_001182 VAR_001182 disease phenotype-associated VAR_001182 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001183 commonName VAR_001183 VAR_001183 disease phenotype-associated VAR_001183 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001184 commonName VAR_001184 VAR_001184 disease phenotype-associated VAR_001184 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001185 commonName VAR_001185 VAR_001185 disease phenotype-associated VAR_001185 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001186 commonName VAR_001186 VAR_001186 disease phenotype-associated VAR_001186 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001187 commonName VAR_001187 VAR_001187 disease phenotype-associated VAR_001187 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001188 commonName VAR_001188 VAR_001188 disease phenotype-associated VAR_001188 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001189 commonName VAR_001189 VAR_001189 disease phenotype-associated VAR_001189 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001190 commonName VAR_001190 VAR_001190 disease phenotype-associated VAR_001190 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001191 commonName VAR_001191 VAR_001191 disease phenotype-associated VAR_001191 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001192 commonName VAR_001192 VAR_001192 disease phenotype-associated VAR_001192 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001193 commonName VAR_001193 VAR_001193 disease phenotype-associated VAR_001193 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001194 commonName VAR_001194 VAR_001194 disease phenotype-associated VAR_001194 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001195 commonName VAR_001195 VAR_001195 disease phenotype-associated VAR_001195 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001196 commonName VAR_001196 VAR_001196 disease phenotype-associated VAR_001196 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001197 commonName VAR_001197 VAR_001197 disease phenotype-associated VAR_001197 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001198 commonName VAR_001198 VAR_001198 disease phenotype-associated VAR_001198 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001199 commonName VAR_001199 VAR_001199 disease phenotype-associated VAR_001199 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001201 commonName VAR_001201 VAR_001201 disease phenotype-associated VAR_001201 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001202 commonName VAR_001202 VAR_001202 disease phenotype-associated VAR_001202 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001203 commonName VAR_001203 VAR_001203 disease phenotype-associated VAR_001203 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001204 commonName VAR_001204 VAR_001204 disease not phenotype-associated VAR_001205 commonName VAR_001205 VAR_001205 disease phenotype-associated VAR_001205 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001206 commonName VAR_001206 VAR_001206 disease phenotype-associated VAR_001206 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001207 commonName VAR_001207 VAR_001207 disease phenotype-associated VAR_001207 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001208 commonName VAR_001208 VAR_001208 disease phenotype-associated VAR_001208 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001209 commonName VAR_001209 VAR_001209 disease phenotype-associated VAR_001209 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001210 commonName VAR_001210 VAR_001210 disease phenotype-associated VAR_001210 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001211 commonName VAR_001211 VAR_001211 disease phenotype-associated VAR_001211 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001212 commonName VAR_001212 VAR_001212 disease phenotype-associated VAR_001212 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_001213 commonName VAR_001213 VAR_001213 disease not phenotype-associated VAR_001214 commonName VAR_001214 VAR_001214 disease not phenotype-associated VAR_001215 commonName VAR_001215 VAR_001215 disease not phenotype-associated VAR_001216 commonName VAR_001216 VAR_001216 disease not phenotype-associated VAR_001217 commonName VAR_001217 VAR_001217 disease not phenotype-associated VAR_001218 commonName VAR_001218 VAR_001218 disease phenotype-associated VAR_001218 phenoCommon Cockayne syndrome type B (CSB) [MIM:133540] VAR_001219 commonName VAR_001219 VAR_001219 disease phenotype-associated VAR_001219 phenoCommon Cockayne syndrome type B (CSB) [MIM:133540] VAR_001226 commonName VAR_001226 VAR_001226 disease phenotype-associated VAR_001226 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] VAR_001227 commonName VAR_001227 VAR_001227 disease phenotype-associated VAR_001227 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] VAR_001228 commonName VAR_001228 VAR_001228 disease phenotype-associated VAR_001228 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] VAR_001229 commonName VAR_001229 VAR_001229 disease phenotype-associated VAR_001229 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] VAR_001230 commonName VAR_001230 VAR_001230 disease phenotype-associated VAR_001230 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] VAR_001231 commonName VAR_001231 VAR_001231 disease phenotype-associated VAR_001231 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] VAR_001232 commonName VAR_001232 VAR_001232 disease phenotype-associated VAR_001232 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] VAR_001233 commonName VAR_001233 VAR_001233 disease phenotype-associated VAR_001233 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] VAR_001234 commonName VAR_001234 VAR_001234 disease phenotype-associated VAR_001234 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] VAR_001235 commonName VAR_001235 VAR_001235 disease phenotype-associated VAR_001235 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] VAR_001236 commonName VAR_001236 VAR_001236 disease phenotype-associated VAR_001236 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] VAR_001237 commonName VAR_001237 VAR_001237 disease not phenotype-associated VAR_001238 commonName VAR_001238 VAR_001238 disease phenotype-associated VAR_001238 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] VAR_001239 commonName VAR_001239 VAR_001239 disease phenotype-associated VAR_001239 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] VAR_001240 commonName VAR_001240 VAR_001240 disease phenotype-associated VAR_001240 phenoCommon Mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM:309580] VAR_001241 commonName VAR_001241 VAR_001241 disease phenotype-associated VAR_001241 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] VAR_001242 commonName VAR_001242 VAR_001242 disease not phenotype-associated VAR_001243 commonName VAR_001243 VAR_001243 disease not phenotype-associated VAR_001244 commonName VAR_001244 VAR_001244 disease phenotype-associated VAR_001244 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_001244 phenoCommon Primary open angle glaucoma (POAG) [MIM:137760] VAR_001245 commonName VAR_001245 VAR_001245 disease phenotype-associated VAR_001245 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_001246 commonName VAR_001246 VAR_001246 disease phenotype-associated VAR_001246 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_001247 commonName VAR_001247 VAR_001247 disease phenotype-associated VAR_001247 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_001248 commonName VAR_001248 VAR_001248 disease not phenotype-associated VAR_001249 commonName VAR_001249 VAR_001249 disease not phenotype-associated VAR_001250 commonName VAR_001250 VAR_001251 commonName VAR_001251 VAR_001252 commonName VAR_001252 VAR_001254 commonName VAR_001254 VAR_001254 disease not phenotype-associated VAR_001255 commonName VAR_001255 VAR_001255 disease not phenotype-associated VAR_001258 commonName VAR_001258 VAR_001258 disease not phenotype-associated VAR_001259 commonName VAR_001259 VAR_001259 disease not phenotype-associated VAR_001260 commonName VAR_001260 VAR_001260 disease phenotype-associated VAR_001260 phenoCommon Adrenal hyperplasia type 4 (AH4) [MIM:202010] VAR_001261 commonName VAR_001261 VAR_001261 disease phenotype-associated VAR_001261 phenoCommon Adrenal hyperplasia type 4 (AH4) [MIM:202010] VAR_001262 commonName VAR_001262 VAR_001262 disease phenotype-associated VAR_001262 phenoCommon Adrenal hyperplasia type 4 (AH4) [MIM:202010] VAR_001263 commonName VAR_001263 VAR_001263 disease phenotype-associated VAR_001263 phenoCommon Adrenal hyperplasia type 4 (AH4) [MIM:202010] VAR_001264 commonName VAR_001264 VAR_001264 disease phenotype-associated VAR_001264 phenoCommon Adrenal hyperplasia type 4 (AH4) [MIM:202010] VAR_001265 commonName VAR_001265 VAR_001265 disease phenotype-associated VAR_001265 phenoCommon Adrenal hyperplasia type 4 (AH4) [MIM:202010] VAR_001266 commonName VAR_001266 VAR_001266 disease not phenotype-associated VAR_001267 commonName VAR_001267 VAR_001267 disease phenotype-associated VAR_001267 phenoCommon Corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency) [MIM:610600] VAR_001268 commonName VAR_001268 VAR_001268 disease phenotype-associated VAR_001268 phenoCommon Corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency) [MIM:610600] VAR_001269 commonName VAR_001269 VAR_001269 disease phenotype-associated VAR_001269 phenoCommon Corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency) [MIM:610600] VAR_001271 commonName VAR_001271 VAR_001271 disease phenotype-associated VAR_001271 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110] VAR_001272 commonName VAR_001272 VAR_001272 disease phenotype-associated VAR_001272 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110] VAR_001274 commonName VAR_001274 VAR_001274 disease phenotype-associated VAR_001274 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110] VAR_001275 commonName VAR_001275 VAR_001275 disease phenotype-associated VAR_001275 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110] VAR_001276 commonName VAR_001276 VAR_001276 disease phenotype-associated VAR_001276 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110] VAR_001277 commonName VAR_001277 VAR_001277 disease phenotype-associated VAR_001277 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110] VAR_001278 commonName VAR_001278 VAR_001278 disease phenotype-associated VAR_001278 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110] VAR_001280 commonName VAR_001280 VAR_001280 disease phenotype-associated VAR_001280 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110] VAR_001303 commonName VAR_001303 VAR_001303 disease phenotype-associated VAR_001303 phenoCommon Cerebrotendinous xanthomatosis (CTX) [MIM:213700] VAR_001304 commonName VAR_001304 VAR_001304 disease phenotype-associated VAR_001304 phenoCommon Cerebrotendinous xanthomatosis (CTX) [MIM:213700] VAR_001305 commonName VAR_001305 VAR_001305 disease not phenotype-associated VAR_001306 comment A gastric cancer sample VAR_001306 commonName VAR_001306 VAR_001307 comment A diffuse gastric cancer sample VAR_001307 commonName VAR_001307 VAR_001309 comment Lobular breast carcinoma VAR_001309 commonName VAR_001309 VAR_001310 commonName VAR_001310 VAR_001310 disease not phenotype-associated VAR_001311 comment A diffuse gastric cancer sample VAR_001311 commonName VAR_001311 VAR_001314 comment A gastric carcinoma sample VAR_001314 commonName VAR_001314 VAR_001315 commonName VAR_001315 VAR_001315 disease not phenotype-associated VAR_001317 comment A diffuse gastric cancer sample VAR_001317 commonName VAR_001317 VAR_001318 comment A thyroid cancer sample VAR_001318 commonName VAR_001318 VAR_001319 comment A gastric cancer sample VAR_001319 commonName VAR_001319 VAR_001320 commonName VAR_001320 VAR_001320 disease not phenotype-associated VAR_001321 commonName VAR_001321 VAR_001322 comment An ovarian carcinoma sample VAR_001322 commonName VAR_001322 VAR_001323 commonName VAR_001323 VAR_001323 disease not phenotype-associated VAR_001324 commonName VAR_001324 VAR_001324 disease phenotype-associated VAR_001324 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600] VAR_001325 commonName VAR_001325 VAR_001325 disease phenotype-associated VAR_001325 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600] VAR_001326 commonName VAR_001326 VAR_001326 disease phenotype-associated VAR_001326 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600] VAR_001327 commonName VAR_001327 VAR_001327 disease phenotype-associated VAR_001327 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600] VAR_001328 commonName VAR_001328 VAR_001328 disease phenotype-associated VAR_001328 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600] VAR_001329 commonName VAR_001329 VAR_001329 disease phenotype-associated VAR_001329 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600] VAR_001330 commonName VAR_001330 VAR_001330 disease phenotype-associated VAR_001330 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600] VAR_001331 commonName VAR_001331 VAR_001331 disease phenotype-associated VAR_001331 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600] VAR_001332 commonName VAR_001332 VAR_001332 disease phenotype-associated VAR_001332 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600] VAR_001333 commonName VAR_001333 VAR_001333 disease phenotype-associated VAR_001333 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600] VAR_001334 commonName VAR_001334 VAR_001334 disease phenotype-associated VAR_001334 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600] VAR_001335 commonName VAR_001335 VAR_001335 disease phenotype-associated VAR_001335 phenoCommon Hereditary pyropoikilocytosis (HPP) [MIM:266140] VAR_001336 commonName VAR_001336 VAR_001336 disease phenotype-associated VAR_001336 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600] VAR_001337 commonName VAR_001337 VAR_001337 disease phenotype-associated VAR_001337 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600] VAR_001339 commonName VAR_001339 VAR_001339 disease phenotype-associated VAR_001339 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600] VAR_001339 phenoCommon Hereditary pyropoikilocytosis (HPP) [MIM:266140] VAR_001340 commonName VAR_001340 VAR_001340 disease phenotype-associated VAR_001340 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600] VAR_001341 commonName VAR_001341 VAR_001341 disease phenotype-associated VAR_001341 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600] VAR_001342 commonName VAR_001342 VAR_001342 disease phenotype-associated VAR_001342 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600] VAR_001344 commonName VAR_001344 VAR_001344 disease phenotype-associated VAR_001344 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600] VAR_001345 commonName VAR_001345 VAR_001345 disease not phenotype-associated VAR_001346 commonName VAR_001346 VAR_001346 disease phenotype-associated VAR_001346 phenoCommon Elliptocytosis type 2 (EL2) [MIM:130600] VAR_001347 commonName VAR_001347 VAR_001347 disease not phenotype-associated VAR_001348 commonName VAR_001348 VAR_001348 disease not phenotype-associated VAR_001349 commonName VAR_001349 VAR_001349 disease not phenotype-associated VAR_001350 commonName VAR_001350 VAR_001350 disease not phenotype-associated VAR_001351 commonName VAR_001351 VAR_001352 commonName VAR_001352 VAR_001353 commonName VAR_001353 VAR_001353 disease not phenotype-associated VAR_001354 commonName VAR_001354 VAR_001354 disease not phenotype-associated VAR_001355 commonName VAR_001355 VAR_001355 disease not phenotype-associated VAR_001356 commonName VAR_001356 VAR_001356 disease not phenotype-associated VAR_001357 commonName VAR_001357 VAR_001357 disease phenotype-associated VAR_001357 phenoCommon Elliptocytosis type 3 (EL3) [MIM:182870] VAR_001358 commonName VAR_001358 VAR_001358 disease phenotype-associated VAR_001358 phenoCommon Elliptocytosis type 3 (EL3) [MIM:182870] VAR_001359 commonName VAR_001359 VAR_001359 disease phenotype-associated VAR_001359 phenoCommon Elliptocytosis type 3 (EL3) [MIM:182870] VAR_001360 commonName VAR_001360 VAR_001360 disease phenotype-associated VAR_001360 phenoCommon Elliptocytosis type 3 (EL3) [MIM:182870] VAR_001361 commonName VAR_001361 VAR_001361 disease phenotype-associated VAR_001361 phenoCommon Elliptocytosis type 3 (EL3) [MIM:182870] VAR_001362 commonName VAR_001362 VAR_001362 disease phenotype-associated VAR_001362 phenoCommon Elliptocytosis type 3 (EL3) [MIM:182870] VAR_001363 commonName VAR_001363 VAR_001363 disease phenotype-associated VAR_001363 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_001365 commonName VAR_001365 VAR_001365 disease phenotype-associated VAR_001365 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_001366 commonName VAR_001366 VAR_001366 disease phenotype-associated VAR_001366 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_001367 commonName VAR_001367 VAR_001367 disease phenotype-associated VAR_001367 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_001368 commonName VAR_001368 VAR_001368 disease phenotype-associated VAR_001368 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_001369 commonName VAR_001369 VAR_001369 disease phenotype-associated VAR_001369 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_001370 commonName VAR_001370 VAR_001370 disease phenotype-associated VAR_001370 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_001371 commonName VAR_001371 VAR_001371 disease not phenotype-associated VAR_001372 commonName VAR_001372 VAR_001372 disease phenotype-associated VAR_001372 phenoCommon Cone dystrophy type 3 (COD3) [MIM:602093] VAR_001373 commonName VAR_001373 VAR_001373 disease not phenotype-associated VAR_001374 commonName VAR_001374 VAR_001374 disease not phenotype-associated VAR_001375 commonName VAR_001375 VAR_001375 disease not phenotype-associated VAR_001378 commonName VAR_001378 VAR_001379 commonName VAR_001379 VAR_001380 commonName VAR_001380 VAR_001381 commonName VAR_001381 VAR_001381 disease phenotype-associated VAR_001381 phenoCommon Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730] VAR_001382 commonName VAR_001382 VAR_001382 disease phenotype-associated VAR_001382 phenoCommon Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730] VAR_001383 commonName VAR_001383 VAR_001384 commonName VAR_001384 VAR_001384 disease not phenotype-associated VAR_001385 commonName VAR_001385 VAR_001385 disease phenotype-associated VAR_001385 phenoCommon Galactosialidosis (GSL) [MIM:256540] VAR_001386 commonName VAR_001386 VAR_001386 disease phenotype-associated VAR_001386 phenoCommon Galactosialidosis (GSL) [MIM:256540] VAR_001387 commonName VAR_001387 VAR_001387 disease phenotype-associated VAR_001387 phenoCommon Galactosialidosis (GSL) [MIM:256540] VAR_001388 commonName VAR_001388 VAR_001388 disease phenotype-associated VAR_001388 phenoCommon Galactosialidosis (GSL) [MIM:256540] VAR_001389 commonName VAR_001389 VAR_001389 disease phenotype-associated VAR_001389 phenoCommon Galactosialidosis (GSL) [MIM:256540] VAR_001390 commonName VAR_001390 VAR_001390 disease phenotype-associated VAR_001390 phenoCommon Galactosialidosis (GSL) [MIM:256540] VAR_001391 commonName VAR_001391 VAR_001391 disease phenotype-associated VAR_001391 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] VAR_001392 commonName VAR_001392 VAR_001392 disease phenotype-associated VAR_001392 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] VAR_001393 commonName VAR_001393 VAR_001393 disease phenotype-associated VAR_001393 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] VAR_001394 commonName VAR_001394 VAR_001394 disease not phenotype-associated VAR_001395 commonName VAR_001395 VAR_001395 disease not phenotype-associated VAR_001396 commonName VAR_001396 VAR_001396 disease phenotype-associated VAR_001396 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] VAR_001397 commonName VAR_001397 VAR_001397 disease phenotype-associated VAR_001397 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] VAR_001398 commonName VAR_001398 VAR_001398 disease phenotype-associated VAR_001398 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] VAR_001399 commonName VAR_001399 VAR_001399 disease phenotype-associated VAR_001399 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] VAR_001400 commonName VAR_001400 VAR_001400 disease not phenotype-associated VAR_001401 commonName VAR_001401 VAR_001401 disease not phenotype-associated VAR_001403 commonName VAR_001403 VAR_001403 disease phenotype-associated VAR_001403 phenoCommon Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801] VAR_001403 phenoCommon Rippling muscle disease (RMD) [MIM:606072] VAR_001408 comment A biliary tract tumor VAR_001408 commonName VAR_001408 VAR_001409 comment A biliary tract tumor VAR_001409 commonName VAR_001409 VAR_001410 comment A lung tumor VAR_001410 commonName VAR_001410 VAR_001411 comment A biliary tract tumor VAR_001411 commonName VAR_001411 VAR_001412 comment A pancreas tumor VAR_001412 commonName VAR_001412 VAR_001413 commonName VAR_001413 VAR_001413 disease phenotype-associated VAR_001413 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_001414 commonName VAR_001414 VAR_001414 disease phenotype-associated VAR_001414 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_001415 comment A biliary tract tumor VAR_001415 commonName VAR_001415 VAR_001416 commonName VAR_001416 VAR_001416 disease phenotype-associated VAR_001416 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_001417 comment A biliary tract tumor VAR_001417 commonName VAR_001417 VAR_001418 commonName VAR_001418 VAR_001418 disease phenotype-associated VAR_001418 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_001419 commonName VAR_001419 VAR_001419 disease phenotype-associated VAR_001419 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_001420 commonName VAR_001420 VAR_001420 disease phenotype-associated VAR_001420 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_001421 comment A biliary tract tumor VAR_001421 commonName VAR_001421 VAR_001422 commonName VAR_001422 VAR_001422 disease not phenotype-associated VAR_001423 commonName VAR_001423 VAR_001423 disease phenotype-associated VAR_001423 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_001424 commonName VAR_001424 VAR_001424 disease phenotype-associated VAR_001424 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_001425 commonName VAR_001425 VAR_001425 disease not phenotype-associated VAR_001426 comment Pancreas carcinoma VAR_001426 commonName VAR_001426 VAR_001427 commonName VAR_001427 VAR_001427 disease phenotype-associated VAR_001427 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_001428 commonName VAR_001428 VAR_001428 disease not phenotype-associated VAR_001430 commonName VAR_001430 VAR_001430 disease phenotype-associated VAR_001430 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_001431 comment Non-small cell lung carcinoma VAR_001431 commonName VAR_001431 VAR_001432 commonName VAR_001432 VAR_001432 disease phenotype-associated VAR_001432 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_001433 comment An esophagus tumor VAR_001433 commonName VAR_001433 VAR_001434 commonName VAR_001434 VAR_001434 disease not phenotype-associated VAR_001435 comment A bladder tumor VAR_001435 commonName VAR_001435 VAR_001436 comment A lung tumor VAR_001436 commonName VAR_001436 VAR_001437 commonName VAR_001437 VAR_001437 disease phenotype-associated VAR_001437 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_001438 commonName VAR_001438 VAR_001438 disease not phenotype-associated VAR_001439 comment An esophagus tumor VAR_001439 commonName VAR_001439 VAR_001440 comment A bladder tumor VAR_001440 commonName VAR_001440 VAR_001441 comment A biliary tract tumor VAR_001441 commonName VAR_001441 VAR_001442 comment Neck tumor VAR_001442 commonName VAR_001442 VAR_001443 comment Some patients with melanoma VAR_001443 commonName VAR_001443 VAR_001444 comment A head and neck tumor VAR_001444 commonName VAR_001444 VAR_001445 comment A lung tumor VAR_001445 commonName VAR_001445 VAR_001446 comment A bladder tumor VAR_001446 commonName VAR_001446 VAR_001447 comment Non-small cell lung carcinoma VAR_001447 commonName VAR_001447 VAR_001448 comment Neck and a lung tumor VAR_001448 commonName VAR_001448 VAR_001449 commonName VAR_001449 VAR_001449 disease phenotype-associated VAR_001449 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_001450 commonName VAR_001450 VAR_001450 disease not phenotype-associated VAR_001451 commonName VAR_001451 VAR_001451 disease phenotype-associated VAR_001451 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_001452 comment A biliary tract tumor VAR_001452 commonName VAR_001452 VAR_001453 commonName VAR_001453 VAR_001453 disease phenotype-associated VAR_001453 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_001454 commonName VAR_001454 VAR_001454 disease phenotype-associated VAR_001454 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_001455 comment Non-small cell lung carcinoma VAR_001455 commonName VAR_001455 VAR_001456 comment Non-small cell lung carcinoma VAR_001456 commonName VAR_001456 VAR_001457 commonName VAR_001457 VAR_001457 disease phenotype-associated VAR_001457 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_001458 commonName VAR_001458 VAR_001458 disease phenotype-associated VAR_001458 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_001459 commonName VAR_001459 VAR_001459 disease phenotype-associated VAR_001459 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_001460 commonName VAR_001460 VAR_001460 disease phenotype-associated VAR_001460 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_001461 comment Non-small cell lung carcinoma VAR_001461 commonName VAR_001461 VAR_001462 commonName VAR_001462 VAR_001462 disease phenotype-associated VAR_001462 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_001463 commonName VAR_001463 VAR_001463 disease not phenotype-associated VAR_001464 commonName VAR_001464 VAR_001464 disease phenotype-associated VAR_001464 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_001464 phenoCommon Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome (FAMMMPC) [MIM:606719] VAR_001466 commonName VAR_001466 VAR_001466 disease phenotype-associated VAR_001466 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_001467 commonName VAR_001467 VAR_001467 disease not phenotype-associated VAR_001468 comment Neck tumor VAR_001468 commonName VAR_001468 VAR_001469 comment A bladder tumor VAR_001469 commonName VAR_001469 VAR_001470 comment Non-small cell lung carcinoma VAR_001470 commonName VAR_001470 VAR_001471 commonName VAR_001471 VAR_001471 disease phenotype-associated VAR_001471 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_001472 commonName VAR_001472 VAR_001472 disease phenotype-associated VAR_001472 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_001473 comment A biliary tract tumor VAR_001473 commonName VAR_001473 VAR_001474 comment Non-small cell lung carcinoma VAR_001474 commonName VAR_001474 VAR_001475 comment Non-small cell lung carcinoma VAR_001475 commonName VAR_001475 VAR_001476 comment A biliary tract tumor VAR_001476 commonName VAR_001476 VAR_001477 comment Leukemia VAR_001477 commonName VAR_001477 VAR_001478 comment An esophagus tumor VAR_001478 commonName VAR_001478 VAR_001479 commonName VAR_001479 VAR_001479 disease phenotype-associated VAR_001479 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_001480 comment Squamous cell carcinoma VAR_001480 commonName VAR_001480 VAR_001481 comment Non-small cell lung carcinoma VAR_001481 commonName VAR_001481 VAR_001482 comment Non-small cell lung carcinoma VAR_001482 commonName VAR_001482 VAR_001483 comment Non-small cell lung carcinoma VAR_001483 commonName VAR_001483 VAR_001484 comment Squamous cell carcinoma VAR_001484 commonName VAR_001484 VAR_001486 commonName VAR_001486 VAR_001486 disease not phenotype-associated VAR_001487 comment Non-small cell lung carcinoma VAR_001487 commonName VAR_001487 VAR_001488 comment Lung adenocarcinoma VAR_001488 commonName VAR_001488 VAR_001489 comment Lung adenocarcinoma VAR_001489 commonName VAR_001489 VAR_001490 comment Breast cancer VAR_001490 commonName VAR_001490 VAR_001491 commonName VAR_001491 VAR_001491 disease phenotype-associated VAR_001491 phenoCommon Familial hemiplegic migraine type 1 (FHM1) [MIM:141500] VAR_001492 commonName VAR_001492 HbVar.673 phenoCommon Hemoglobin variant VAR_001492 disease phenotype-associated VAR_001492 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500] VAR_001492 phenoCommon Familial hemiplegic migraine type 1 (FHM1) [MIM:141500] VAR_001493 commonName VAR_001493 VAR_001493 disease phenotype-associated VAR_001493 phenoCommon Familial hemiplegic migraine type 1 (FHM1) [MIM:141500] VAR_001494 commonName VAR_001494 VAR_001494 disease phenotype-associated VAR_001494 phenoCommon Familial hemiplegic migraine type 1 (FHM1) [MIM:141500] VAR_001495 commonName VAR_001495 VAR_001495 disease not phenotype-associated VAR_001496 commonName VAR_001496 VAR_001496 disease not phenotype-associated VAR_001498 commonName VAR_001498 VAR_001498 disease not phenotype-associated VAR_001499 commonName VAR_001499 VAR_001499 disease phenotype-associated VAR_001499 phenoCommon Periodic paralysis hypokalemic type 1 (HOKPP1) [MIM:170400] VAR_001500 commonName VAR_001500 VAR_001500 disease phenotype-associated VAR_001500 phenoCommon Malignant hyperthermia susceptibility type 5 (MHS5) [MIM:601887] VAR_001501 commonName VAR_001501 VAR_001501 disease phenotype-associated VAR_001501 phenoCommon Periodic paralysis hypokalemic type 1 (HOKPP1) [MIM:170400] VAR_001502 commonName VAR_001502 VAR_001502 disease phenotype-associated VAR_001502 phenoCommon Periodic paralysis hypokalemic type 1 (HOKPP1) [MIM:170400] VAR_001503 commonName VAR_001503 VAR_001503 disease not phenotype-associated VAR_001504 commonName VAR_001504 VAR_001504 disease phenotype-associated VAR_001504 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] VAR_001505 commonName VAR_001505 VAR_001505 disease phenotype-associated VAR_001505 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] VAR_001506 commonName VAR_001506 VAR_001506 disease phenotype-associated VAR_001506 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] VAR_001507 commonName VAR_001507 VAR_001507 disease phenotype-associated VAR_001507 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] VAR_001508 commonName VAR_001508 VAR_001508 disease phenotype-associated VAR_001508 phenoCommon Episodic ataxia type 1 (EA1) [MIM:160120] VAR_001509 commonName VAR_001509 VAR_001509 disease phenotype-associated VAR_001509 phenoCommon Episodic ataxia type 1 (EA1) [MIM:160120] VAR_001510 commonName VAR_001510 VAR_001510 disease phenotype-associated VAR_001510 phenoCommon Episodic ataxia type 1 (EA1) [MIM:160120] VAR_001511 commonName VAR_001511 VAR_001511 disease phenotype-associated VAR_001511 phenoCommon Episodic ataxia type 1 (EA1) [MIM:160120] VAR_001512 commonName VAR_001512 VAR_001512 disease phenotype-associated VAR_001512 phenoCommon Episodic ataxia type 1 (EA1) [MIM:160120] VAR_001513 commonName VAR_001513 VAR_001513 disease phenotype-associated VAR_001513 phenoCommon Episodic ataxia type 1 (EA1) [MIM:160120] VAR_001514 commonName VAR_001514 VAR_001514 disease phenotype-associated VAR_001514 phenoCommon Episodic ataxia type 1 (EA1) [MIM:160120] VAR_001516 commonName VAR_001516 VAR_001516 disease phenotype-associated VAR_001516 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_001517 commonName VAR_001517 VAR_001517 disease phenotype-associated VAR_001517 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_001518 commonName VAR_001518 VAR_001518 disease phenotype-associated VAR_001518 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_001519 commonName VAR_001519 VAR_001519 disease phenotype-associated VAR_001519 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_001520 commonName VAR_001520 VAR_001520 disease phenotype-associated VAR_001520 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_001521 commonName VAR_001521 VAR_001521 disease phenotype-associated VAR_001521 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_001522 commonName VAR_001522 VAR_001522 disease phenotype-associated VAR_001522 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_001523 commonName VAR_001523 VAR_001523 disease phenotype-associated VAR_001523 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_001524 commonName VAR_001524 VAR_001524 disease phenotype-associated VAR_001524 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_001525 commonName VAR_001525 VAR_001525 disease phenotype-associated VAR_001525 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_001526 commonName VAR_001526 VAR_001526 disease phenotype-associated VAR_001526 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_001527 commonName VAR_001527 VAR_001527 disease phenotype-associated VAR_001527 phenoCommon Jervell and Lange-Nielsen syndrome type 1 (JLNS1) [MIM:220400] VAR_001528 commonName VAR_001528 VAR_001528 disease phenotype-associated VAR_001528 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_001529 commonName VAR_001529 VAR_001529 disease phenotype-associated VAR_001529 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_001530 commonName VAR_001530 VAR_001530 disease phenotype-associated VAR_001530 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_001531 commonName VAR_001531 VAR_001531 disease phenotype-associated VAR_001531 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_001532 commonName VAR_001532 VAR_001532 disease phenotype-associated VAR_001532 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_001533 commonName VAR_001533 VAR_001533 disease phenotype-associated VAR_001533 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_001534 commonName VAR_001534 VAR_001534 disease phenotype-associated VAR_001534 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_001535 commonName VAR_001535 VAR_001535 disease phenotype-associated VAR_001535 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_001536 commonName VAR_001536 VAR_001536 disease phenotype-associated VAR_001536 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_001538 commonName VAR_001538 VAR_001538 disease phenotype-associated VAR_001538 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_001539 commonName VAR_001539 VAR_001539 disease phenotype-associated VAR_001539 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_001540 commonName VAR_001540 VAR_001540 disease phenotype-associated VAR_001540 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_001541 commonName VAR_001541 VAR_001541 disease phenotype-associated VAR_001541 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_001542 commonName VAR_001542 VAR_001542 disease phenotype-associated VAR_001542 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_001543 commonName VAR_001543 VAR_001543 disease phenotype-associated VAR_001543 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_001544 commonName VAR_001544 VAR_001544 disease phenotype-associated VAR_001544 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_001546 commonName VAR_001546 VAR_001546 disease phenotype-associated VAR_001546 phenoCommon Benign familial neonatal seizures type 2 (BFNS2) [MIM:121201] VAR_001547 commonName VAR_001547 VAR_001547 disease phenotype-associated VAR_001547 phenoCommon Deafness autosomal dominant type 2A (DFNA2A) [MIM:600101] VAR_001548 commonName VAR_001548 VAR_001548 disease phenotype-associated VAR_001548 phenoCommon Bartter syndrome type 2 (BS2) [MIM:241200] VAR_001549 commonName VAR_001549 VAR_001549 disease phenotype-associated VAR_001549 phenoCommon Bartter syndrome type 2 (BS2) [MIM:241200] VAR_001550 commonName VAR_001550 VAR_001550 disease phenotype-associated VAR_001550 phenoCommon Bartter syndrome type 2 (BS2) [MIM:241200] VAR_001551 commonName VAR_001551 VAR_001551 disease phenotype-associated VAR_001551 phenoCommon Bartter syndrome type 2 (BS2) [MIM:241200] VAR_001552 commonName VAR_001552 VAR_001552 disease phenotype-associated VAR_001552 phenoCommon Bartter syndrome type 2 (BS2) [MIM:241200] VAR_001553 commonName VAR_001553 VAR_001553 disease phenotype-associated VAR_001553 phenoCommon Bartter syndrome type 2 (BS2) [MIM:241200] VAR_001554 commonName VAR_001554 VAR_001554 disease phenotype-associated VAR_001554 phenoCommon Bartter syndrome type 2 (BS2) [MIM:241200] VAR_001555 commonName VAR_001555 VAR_001555 disease phenotype-associated VAR_001555 phenoCommon Bartter syndrome type 2 (BS2) [MIM:241200] VAR_001556 commonName VAR_001556 VAR_001556 disease phenotype-associated VAR_001556 phenoCommon Bartter syndrome type 2 (BS2) [MIM:241200] VAR_001558 commonName VAR_001558 VAR_001558 disease not phenotype-associated VAR_001560 commonName VAR_001560 VAR_001560 disease not phenotype-associated VAR_001561 commonName VAR_001561 VAR_001561 disease not phenotype-associated VAR_001562 commonName VAR_001562 VAR_001562 disease phenotype-associated VAR_001562 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] VAR_001562 phenoCommon Periodic paralysis hyperkalemic (HYPP) [MIM:170500] VAR_001563 commonName VAR_001563 VAR_001563 disease phenotype-associated VAR_001563 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] VAR_001564 commonName VAR_001564 VAR_001564 disease not phenotype-associated VAR_001565 commonName VAR_001565 VAR_001565 disease phenotype-associated VAR_001565 phenoCommon Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] VAR_001565 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] VAR_001565 phenoCommon Periodic paralysis hyperkalemic (HYPP) [MIM:170500] VAR_001566 commonName VAR_001566 VAR_001566 disease phenotype-associated VAR_001566 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] VAR_001567 commonName VAR_001567 VAR_001567 disease phenotype-associated VAR_001567 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] VAR_001568 commonName VAR_001568 VAR_001568 disease phenotype-associated VAR_001568 phenoCommon Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] VAR_001568 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] VAR_001569 commonName VAR_001569 VAR_001569 disease phenotype-associated VAR_001569 phenoCommon Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] VAR_001569 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] VAR_001570 commonName VAR_001570 VAR_001570 disease phenotype-associated VAR_001570 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] VAR_001571 commonName VAR_001571 VAR_001571 disease phenotype-associated VAR_001571 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] VAR_001571 phenoCommon Periodic paralysis hyperkalemic (HYPP) [MIM:170500] VAR_001572 commonName VAR_001572 VAR_001572 disease phenotype-associated VAR_001572 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] VAR_001573 commonName VAR_001573 VAR_001573 disease phenotype-associated VAR_001573 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] VAR_001574 commonName VAR_001574 VAR_001574 disease phenotype-associated VAR_001574 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] VAR_001575 commonName VAR_001575 VAR_001575 disease phenotype-associated VAR_001575 phenoCommon Periodic paralysis hyperkalemic (HYPP) [MIM:170500] VAR_001575 phenoCommon Periodic paralysis normokalemic (NKPP) [MIM:170500] VAR_001577 commonName VAR_001577 VAR_001577 disease phenotype-associated VAR_001577 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_001578 commonName VAR_001578 VAR_001578 disease phenotype-associated VAR_001578 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_001579 commonName VAR_001579 VAR_001579 disease phenotype-associated VAR_001579 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_001580 commonName VAR_001580 VAR_001580 disease phenotype-associated VAR_001580 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_001581 commonName VAR_001581 VAR_001581 disease phenotype-associated VAR_001581 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_001582 commonName VAR_001582 VAR_001582 disease phenotype-associated VAR_001582 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700] VAR_001583 commonName VAR_001583 VAR_001583 disease not phenotype-associated VAR_001584 commonName VAR_001584 VAR_001584 disease phenotype-associated VAR_001584 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700] VAR_001585 commonName VAR_001585 VAR_001585 disease phenotype-associated VAR_001585 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700] VAR_001586 commonName VAR_001586 VAR_001586 disease phenotype-associated VAR_001586 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700] VAR_001586 phenoCommon Thomsen disease (THD) [MIM:160800] VAR_001587 commonName VAR_001587 VAR_001587 disease phenotype-associated VAR_001587 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700] VAR_001588 commonName VAR_001588 VAR_001588 disease phenotype-associated VAR_001588 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700] VAR_001589 commonName VAR_001589 VAR_001589 disease phenotype-associated VAR_001589 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700] VAR_001589 phenoCommon Thomsen disease (THD) [MIM:160800] VAR_001590 commonName VAR_001590 VAR_001590 disease phenotype-associated VAR_001590 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700] VAR_001590 phenoCommon Thomsen disease (THD) [MIM:160800] VAR_001591 commonName VAR_001591 VAR_001591 disease phenotype-associated VAR_001591 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700] VAR_001592 commonName VAR_001592 VAR_001592 disease phenotype-associated VAR_001592 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700] VAR_001593 commonName VAR_001593 VAR_001593 disease phenotype-associated VAR_001593 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700] VAR_001594 commonName VAR_001594 VAR_001594 disease phenotype-associated VAR_001594 phenoCommon Thomsen disease (THD) [MIM:160800] VAR_001595 commonName VAR_001595 VAR_001595 disease phenotype-associated VAR_001595 phenoCommon Thomsen disease (THD) [MIM:160800] VAR_001596 commonName VAR_001596 VAR_001596 disease phenotype-associated VAR_001596 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700] VAR_001597 commonName VAR_001597 VAR_001597 disease not phenotype-associated VAR_001598 commonName VAR_001598 VAR_001598 disease phenotype-associated VAR_001598 phenoCommon Thomsen disease (THD) [MIM:160800] VAR_001599 commonName VAR_001599 VAR_001599 disease phenotype-associated VAR_001599 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700] VAR_001599 phenoCommon Thomsen disease (THD) [MIM:160800] VAR_001600 commonName VAR_001600 VAR_001600 disease phenotype-associated VAR_001600 phenoCommon Thomsen disease (THD) [MIM:160800] VAR_001601 commonName VAR_001601 VAR_001601 disease phenotype-associated VAR_001601 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700] VAR_001602 commonName VAR_001602 VAR_001602 disease phenotype-associated VAR_001602 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700] VAR_001603 commonName VAR_001603 VAR_001603 disease phenotype-associated VAR_001603 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700] VAR_001603 phenoCommon Thomsen disease (THD) [MIM:160800] VAR_001604 commonName VAR_001604 VAR_001604 disease phenotype-associated VAR_001604 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700] VAR_001605 commonName VAR_001605 VAR_001605 disease phenotype-associated VAR_001605 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700] VAR_001606 commonName VAR_001606 VAR_001606 disease not phenotype-associated VAR_001607 commonName VAR_001607 VAR_001607 disease phenotype-associated VAR_001607 phenoCommon Thomsen disease (THD) [MIM:160800] VAR_001608 commonName VAR_001608 VAR_001608 disease phenotype-associated VAR_001608 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700] VAR_001609 commonName VAR_001609 VAR_001609 disease phenotype-associated VAR_001609 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700] VAR_001610 commonName VAR_001610 VAR_001610 disease phenotype-associated VAR_001610 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700] VAR_001611 commonName VAR_001611 VAR_001611 disease phenotype-associated VAR_001611 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700] VAR_001611 phenoCommon Thomsen disease (THD) [MIM:160800] VAR_001612 commonName VAR_001612 VAR_001612 disease phenotype-associated VAR_001612 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700] VAR_001612 phenoCommon Thomsen disease (THD) [MIM:160800] VAR_001613 commonName VAR_001613 VAR_001613 disease phenotype-associated VAR_001613 phenoCommon Autosomal recessive myotonia congenita (MCR) [MIM:255700] VAR_001616 commonName VAR_001616 VAR_001616 disease phenotype-associated VAR_001616 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009] VAR_001617 commonName VAR_001617 VAR_001617 disease phenotype-associated VAR_001617 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009] VAR_001618 commonName VAR_001618 VAR_001618 disease phenotype-associated VAR_001618 phenoCommon Hypophosphatemic rickets, X-linked recessive (XLRHR) [MIM:300554] VAR_001619 commonName VAR_001619 VAR_001619 disease phenotype-associated VAR_001619 phenoCommon Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis (LMWPHN) [MIM:308990] VAR_001620 commonName VAR_001620 VAR_001620 disease phenotype-associated VAR_001620 phenoCommon Nephrolithiasis type 1 (NPHL1) [MIM:310468] VAR_001621 commonName VAR_001621 VAR_001621 disease phenotype-associated VAR_001621 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009] VAR_001622 commonName VAR_001622 VAR_001622 disease phenotype-associated VAR_001622 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009] VAR_001623 commonName VAR_001623 VAR_001623 disease phenotype-associated VAR_001623 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009] VAR_001624 commonName VAR_001624 VAR_001624 disease phenotype-associated VAR_001624 phenoCommon Bartter syndrome type 3 (BS3) [MIM:607364] VAR_001625 commonName VAR_001625 VAR_001625 disease phenotype-associated VAR_001625 phenoCommon Bartter syndrome type 3 (BS3) [MIM:607364] VAR_001626 commonName VAR_001626 VAR_001626 disease phenotype-associated VAR_001626 phenoCommon Bartter syndrome type 3 (BS3) [MIM:607364] VAR_001627 commonName VAR_001627 VAR_001627 disease phenotype-associated VAR_001627 phenoCommon Bartter syndrome type 3 (BS3) [MIM:607364] VAR_001628 commonName VAR_001628 VAR_001628 disease phenotype-associated VAR_001628 phenoCommon Bartter syndrome type 3 (BS3) [MIM:607364] VAR_001633 commonName VAR_001633 VAR_001633 disease not phenotype-associated VAR_001634 commonName VAR_001634 VAR_001635 commonName VAR_001635 VAR_001635 disease not phenotype-associated VAR_001636 commonName VAR_001636 VAR_001637 commonName VAR_001637 VAR_001638 commonName VAR_001638 VAR_001638 disease not phenotype-associated VAR_001639 commonName VAR_001639 VAR_001639 disease not phenotype-associated VAR_001640 commonName VAR_001640 VAR_001640 disease not phenotype-associated VAR_001641 commonName VAR_001641 VAR_001641 disease not phenotype-associated VAR_001642 commonName VAR_001642 VAR_001642 disease not phenotype-associated VAR_001643 commonName VAR_001643 VAR_001643 disease not phenotype-associated VAR_001644 commonName VAR_001644 VAR_001644 disease phenotype-associated VAR_001644 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200] VAR_001645 commonName VAR_001645 VAR_001645 disease phenotype-associated VAR_001645 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200] VAR_001646 commonName VAR_001646 VAR_001646 disease phenotype-associated VAR_001646 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200] VAR_001647 commonName VAR_001647 VAR_001647 disease phenotype-associated VAR_001647 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200] VAR_001648 commonName VAR_001648 VAR_001648 disease phenotype-associated VAR_001648 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200] VAR_001649 commonName VAR_001649 VAR_001649 disease phenotype-associated VAR_001649 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001650 commonName VAR_001650 VAR_001650 disease phenotype-associated VAR_001650 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_001651 commonName VAR_001651 VAR_001651 disease phenotype-associated VAR_001651 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_001652 commonName VAR_001652 VAR_001652 disease phenotype-associated VAR_001652 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220] VAR_001653 commonName VAR_001653 VAR_001653 disease phenotype-associated VAR_001653 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220] VAR_001654 commonName VAR_001654 VAR_001654 disease phenotype-associated VAR_001654 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220] VAR_001655 commonName VAR_001655 VAR_001656 commonName VAR_001656 VAR_001656 disease phenotype-associated VAR_001656 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001657 commonName VAR_001657 VAR_001657 disease phenotype-associated VAR_001657 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220] VAR_001658 commonName VAR_001658 VAR_001658 disease phenotype-associated VAR_001658 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001659 commonName VAR_001659 VAR_001659 disease phenotype-associated VAR_001659 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220] VAR_001660 commonName VAR_001660 VAR_001661 commonName VAR_001661 VAR_001661 disease phenotype-associated VAR_001661 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001662 commonName VAR_001662 VAR_001662 disease phenotype-associated VAR_001662 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001663 commonName VAR_001663 VAR_001663 disease phenotype-associated VAR_001663 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001664 commonName VAR_001664 VAR_001664 disease phenotype-associated VAR_001664 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001665 commonName VAR_001665 VAR_001665 disease phenotype-associated VAR_001665 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220] VAR_001666 commonName VAR_001666 VAR_001666 disease phenotype-associated VAR_001666 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001666 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_001666 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220] VAR_001667 commonName VAR_001667 VAR_001667 disease phenotype-associated VAR_001667 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001668 commonName VAR_001668 VAR_001668 disease phenotype-associated VAR_001668 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220] VAR_001669 commonName VAR_001669 VAR_001669 disease phenotype-associated VAR_001669 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220] VAR_001670 commonName VAR_001670 VAR_001670 disease phenotype-associated VAR_001670 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001671 commonName VAR_001671 VAR_001671 disease not phenotype-associated VAR_001672 commonName VAR_001672 VAR_001672 disease phenotype-associated VAR_001672 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001673 commonName VAR_001673 VAR_001673 disease phenotype-associated VAR_001673 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_001673 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220] VAR_001674 commonName VAR_001674 VAR_001674 disease phenotype-associated VAR_001674 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001674 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_001676 commonName VAR_001676 VAR_001676 disease phenotype-associated VAR_001676 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001677 commonName VAR_001677 VAR_001677 disease phenotype-associated VAR_001677 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220] VAR_001678 commonName VAR_001678 VAR_001678 disease phenotype-associated VAR_001678 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_001679 commonName VAR_001679 VAR_001679 disease phenotype-associated VAR_001679 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001680 commonName VAR_001680 VAR_001680 disease phenotype-associated VAR_001680 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_001681 commonName VAR_001681 VAR_001681 disease phenotype-associated VAR_001681 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001682 commonName VAR_001682 VAR_001682 disease phenotype-associated VAR_001682 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001683 commonName VAR_001683 VAR_001683 disease phenotype-associated VAR_001683 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001684 commonName VAR_001684 VAR_001684 disease phenotype-associated VAR_001684 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001685 commonName VAR_001685 VAR_001685 disease phenotype-associated VAR_001685 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001686 commonName VAR_001686 VAR_001686 disease phenotype-associated VAR_001686 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_001687 commonName VAR_001687 VAR_001687 disease phenotype-associated VAR_001687 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001688 commonName VAR_001688 VAR_001688 disease phenotype-associated VAR_001688 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001689 commonName VAR_001689 VAR_001689 disease phenotype-associated VAR_001689 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001690 commonName VAR_001690 VAR_001690 disease phenotype-associated VAR_001690 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_001691 commonName VAR_001691 VAR_001691 disease not phenotype-associated VAR_001692 commonName VAR_001692 VAR_001692 disease phenotype-associated VAR_001692 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001693 commonName VAR_001693 VAR_001693 disease phenotype-associated VAR_001693 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001694 commonName VAR_001694 VAR_001694 disease phenotype-associated VAR_001694 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001695 commonName VAR_001695 VAR_001695 disease phenotype-associated VAR_001695 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001696 commonName VAR_001696 VAR_001696 disease phenotype-associated VAR_001696 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001697 commonName VAR_001697 VAR_001697 disease phenotype-associated VAR_001697 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001697 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_001698 commonName VAR_001698 VAR_001698 disease phenotype-associated VAR_001698 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001699 commonName VAR_001699 VAR_001699 disease phenotype-associated VAR_001699 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001700 commonName VAR_001700 VAR_001700 disease phenotype-associated VAR_001700 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001701 commonName VAR_001701 VAR_001701 disease phenotype-associated VAR_001701 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220] VAR_001702 commonName VAR_001702 VAR_001702 disease phenotype-associated VAR_001702 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_001703 commonName VAR_001703 VAR_001703 disease phenotype-associated VAR_001703 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001704 commonName VAR_001704 VAR_001704 disease phenotype-associated VAR_001704 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001705 commonName VAR_001705 VAR_001705 disease phenotype-associated VAR_001705 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001705 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_001706 commonName VAR_001706 VAR_001706 disease phenotype-associated VAR_001706 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001708 commonName VAR_001708 VAR_001708 disease phenotype-associated VAR_001708 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_001709 commonName VAR_001709 VAR_001709 disease phenotype-associated VAR_001709 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_001709 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220] VAR_001710 commonName VAR_001710 VAR_001710 disease phenotype-associated VAR_001710 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001711 commonName VAR_001711 VAR_001711 disease phenotype-associated VAR_001711 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220] VAR_001712 commonName VAR_001712 VAR_001712 disease not phenotype-associated VAR_001713 commonName VAR_001713 VAR_001713 disease phenotype-associated VAR_001713 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_001714 commonName VAR_001714 VAR_001714 disease phenotype-associated VAR_001714 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200] VAR_001714 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001715 commonName VAR_001715 VAR_001715 disease phenotype-associated VAR_001715 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001716 commonName VAR_001716 VAR_001716 disease phenotype-associated VAR_001716 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001717 commonName VAR_001717 VAR_001717 disease phenotype-associated VAR_001717 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001718 commonName VAR_001718 VAR_001718 disease phenotype-associated VAR_001718 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001719 commonName VAR_001719 VAR_001719 disease phenotype-associated VAR_001719 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001720 commonName VAR_001720 VAR_001720 disease phenotype-associated VAR_001720 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001721 commonName VAR_001721 VAR_001721 disease phenotype-associated VAR_001721 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001722 commonName VAR_001722 VAR_001722 disease phenotype-associated VAR_001722 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_001723 commonName VAR_001723 VAR_001723 disease phenotype-associated VAR_001723 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001724 commonName VAR_001724 VAR_001724 disease phenotype-associated VAR_001724 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001725 commonName VAR_001725 VAR_001725 disease phenotype-associated VAR_001725 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001726 commonName VAR_001726 VAR_001726 disease phenotype-associated VAR_001726 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001727 commonName VAR_001727 VAR_001727 disease phenotype-associated VAR_001727 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001728 commonName VAR_001728 VAR_001728 disease phenotype-associated VAR_001728 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001729 commonName VAR_001729 VAR_001729 disease phenotype-associated VAR_001729 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001729 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_001730 commonName VAR_001730 VAR_001730 disease phenotype-associated VAR_001730 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001731 commonName VAR_001731 VAR_001731 disease phenotype-associated VAR_001731 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200] VAR_001732 commonName VAR_001732 VAR_001732 disease phenotype-associated VAR_001732 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001733 commonName VAR_001733 VAR_001733 disease phenotype-associated VAR_001733 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001735 commonName VAR_001735 VAR_001735 disease phenotype-associated VAR_001735 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001736 commonName VAR_001736 VAR_001736 disease not phenotype-associated VAR_001737 commonName VAR_001737 VAR_001737 disease phenotype-associated VAR_001737 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_001738 commonName VAR_001738 VAR_001738 disease phenotype-associated VAR_001738 phenoCommon Stickler syndrome type 1 non-syndromic ocular (STL1O) [MIM:609508] VAR_001739 commonName VAR_001739 VAR_001739 disease phenotype-associated VAR_001739 phenoCommon Czech dysplasia (CZECHD) [MIM:609162] VAR_001741 commonName VAR_001741 VAR_001741 disease phenotype-associated VAR_001741 phenoCommon Kniest dysplasia (KD) [MIM:156550] VAR_001742 commonName VAR_001742 VAR_001743 commonName VAR_001743 VAR_001743 disease phenotype-associated VAR_001743 phenoCommon Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] VAR_001744 commonName VAR_001744 VAR_001744 disease phenotype-associated VAR_001744 phenoCommon Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] VAR_001745 commonName VAR_001745 VAR_001745 disease phenotype-associated VAR_001745 phenoCommon Spondyloepimetaphyseal dysplasia Strudwick type (SEMD-STR) [MIM:184250] VAR_001746 commonName VAR_001746 VAR_001746 disease phenotype-associated VAR_001746 phenoCommon Spondyloepimetaphyseal dysplasia Strudwick type (SEMD-STR) [MIM:184250] VAR_001747 commonName VAR_001747 VAR_001747 disease phenotype-associated VAR_001747 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610] VAR_001748 commonName VAR_001748 VAR_001748 disease phenotype-associated VAR_001748 phenoCommon Osteoarthritis with mild chondrodysplasia (OACD) [MIM:604864] VAR_001749 commonName VAR_001749 VAR_001749 disease phenotype-associated VAR_001749 phenoCommon Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] VAR_001751 commonName VAR_001751 VAR_001752 commonName VAR_001752 VAR_001752 disease phenotype-associated VAR_001752 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610] VAR_001752 phenoCommon Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] VAR_001753 commonName VAR_001753 VAR_001753 disease phenotype-associated VAR_001753 phenoCommon Spondyloepimetaphyseal dysplasia Strudwick type (SEMD-STR) [MIM:184250] VAR_001754 commonName VAR_001754 VAR_001754 disease phenotype-associated VAR_001754 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610] VAR_001755 commonName VAR_001755 VAR_001755 disease phenotype-associated VAR_001755 phenoCommon Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] VAR_001756 commonName VAR_001756 VAR_001757 commonName VAR_001757 VAR_001757 disease phenotype-associated VAR_001757 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610] VAR_001758 commonName VAR_001758 VAR_001759 commonName VAR_001759 VAR_001759 disease phenotype-associated VAR_001759 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610] VAR_001760 commonName VAR_001760 VAR_001761 commonName VAR_001761 VAR_001761 disease phenotype-associated VAR_001761 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610] VAR_001763 commonName VAR_001763 VAR_001763 disease phenotype-associated VAR_001763 phenoCommon Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] VAR_001764 commonName VAR_001764 VAR_001764 disease phenotype-associated VAR_001764 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610] VAR_001765 commonName VAR_001765 VAR_001765 disease phenotype-associated VAR_001765 phenoCommon Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] VAR_001767 commonName VAR_001767 VAR_001767 disease phenotype-associated VAR_001767 phenoCommon Aortic aneurysm abdominal (AAA) [MIM:100070] VAR_001768 commonName VAR_001768 VAR_001768 disease phenotype-associated VAR_001768 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_001769 commonName VAR_001769 VAR_001769 disease phenotype-associated VAR_001769 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_001770 commonName VAR_001770 VAR_001770 disease phenotype-associated VAR_001770 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_001771 commonName VAR_001771 VAR_001772 commonName VAR_001772 VAR_001772 disease phenotype-associated VAR_001772 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_001773 commonName VAR_001773 VAR_001773 disease phenotype-associated VAR_001773 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_001774 commonName VAR_001774 VAR_001774 disease phenotype-associated VAR_001774 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_001775 commonName VAR_001775 VAR_001775 disease not phenotype-associated VAR_001776 commonName VAR_001776 VAR_001776 disease not phenotype-associated VAR_001777 commonName VAR_001777 VAR_001777 disease phenotype-associated VAR_001777 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_001778 commonName VAR_001778 VAR_001778 disease not phenotype-associated VAR_001779 commonName VAR_001779 VAR_001779 disease phenotype-associated VAR_001779 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_001780 commonName VAR_001780 VAR_001780 disease phenotype-associated VAR_001780 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_001781 commonName VAR_001781 VAR_001781 disease phenotype-associated VAR_001781 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_001782 commonName VAR_001782 VAR_001782 disease phenotype-associated VAR_001782 phenoCommon Aortic aneurysm abdominal (AAA) [MIM:100070] VAR_001783 commonName VAR_001783 VAR_001783 disease phenotype-associated VAR_001783 phenoCommon Ehlers-Danlos syndrome type 3 (EDS3) [MIM:130020] VAR_001784 commonName VAR_001784 VAR_001784 disease phenotype-associated VAR_001784 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_001785 commonName VAR_001785 VAR_001785 disease phenotype-associated VAR_001785 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_001786 commonName VAR_001786 VAR_001786 disease phenotype-associated VAR_001786 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_001787 commonName VAR_001787 VAR_001787 disease phenotype-associated VAR_001787 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_001788 commonName VAR_001788 VAR_001788 disease phenotype-associated VAR_001788 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_001789 commonName VAR_001789 VAR_001789 disease phenotype-associated VAR_001789 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_001790 commonName VAR_001790 VAR_001790 disease phenotype-associated VAR_001790 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_001791 commonName VAR_001791 VAR_001791 disease phenotype-associated VAR_001791 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_001792 commonName VAR_001792 VAR_001792 disease phenotype-associated VAR_001792 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_001793 commonName VAR_001793 VAR_001793 disease phenotype-associated VAR_001793 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_001794 commonName VAR_001794 VAR_001794 disease phenotype-associated VAR_001794 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_001795 commonName VAR_001795 VAR_001795 disease phenotype-associated VAR_001795 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_001796 commonName VAR_001796 VAR_001796 disease phenotype-associated VAR_001796 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_001797 commonName VAR_001797 VAR_001797 disease phenotype-associated VAR_001797 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_001798 commonName VAR_001798 VAR_001799 commonName VAR_001799 VAR_001799 disease phenotype-associated VAR_001799 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_001800 commonName VAR_001800 VAR_001800 disease phenotype-associated VAR_001800 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_001801 commonName VAR_001801 VAR_001801 disease phenotype-associated VAR_001801 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_001802 commonName VAR_001802 VAR_001802 disease phenotype-associated VAR_001802 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_001803 commonName VAR_001803 VAR_001803 disease phenotype-associated VAR_001803 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_001804 commonName VAR_001804 VAR_001804 disease phenotype-associated VAR_001804 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_001805 commonName VAR_001805 VAR_001805 disease phenotype-associated VAR_001805 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_001806 commonName VAR_001806 VAR_001806 disease phenotype-associated VAR_001806 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_001807 commonName VAR_001807 VAR_001807 disease phenotype-associated VAR_001807 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_001808 commonName VAR_001808 VAR_001808 disease phenotype-associated VAR_001808 phenoCommon Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000] VAR_001809 commonName VAR_001809 VAR_001809 disease phenotype-associated VAR_001809 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] VAR_001810 commonName VAR_001810 VAR_001810 disease phenotype-associated VAR_001810 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] VAR_001811 commonName VAR_001811 VAR_001811 disease phenotype-associated VAR_001811 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] VAR_001812 commonName VAR_001812 VAR_001812 disease phenotype-associated VAR_001812 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] VAR_001813 commonName VAR_001813 VAR_001813 disease phenotype-associated VAR_001813 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] VAR_001814 commonName VAR_001814 VAR_001814 disease phenotype-associated VAR_001814 phenoCommon Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600] VAR_001815 commonName VAR_001815 VAR_001815 disease phenotype-associated VAR_001815 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] VAR_001816 commonName VAR_001816 VAR_001816 disease phenotype-associated VAR_001816 phenoCommon Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600] VAR_001817 commonName VAR_001817 VAR_001817 disease phenotype-associated VAR_001817 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] VAR_001818 commonName VAR_001818 VAR_001818 disease phenotype-associated VAR_001818 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] VAR_001818 phenoCommon Epidermolysis bullosa dystrophica with subcorneal cleavage (EBDSC) [MIM:607600] VAR_001819 commonName VAR_001819 VAR_001819 disease phenotype-associated VAR_001819 phenoCommon Epidermolysis bullosa dystrophica Pasini type (P-DEB) [MIM:131750] VAR_001820 commonName VAR_001820 VAR_001820 disease phenotype-associated VAR_001820 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] VAR_001821 commonName VAR_001821 VAR_001821 disease phenotype-associated VAR_001821 phenoCommon Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600] VAR_001822 commonName VAR_001822 VAR_001822 disease phenotype-associated VAR_001822 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] VAR_001823 commonName VAR_001823 VAR_001823 disease phenotype-associated VAR_001823 phenoCommon Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600] VAR_001825 commonName VAR_001825 VAR_001825 disease phenotype-associated VAR_001825 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] VAR_001826 commonName VAR_001826 VAR_001826 disease phenotype-associated VAR_001826 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] VAR_001827 commonName VAR_001827 VAR_001827 disease phenotype-associated VAR_001827 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] VAR_001828 commonName VAR_001828 VAR_001828 disease phenotype-associated VAR_001828 phenoCommon Epidermolysis bullosa pruriginosa (EBP) [MIM:604129] VAR_001829 commonName VAR_001829 VAR_001829 disease not phenotype-associated VAR_001830 commonName VAR_001830 VAR_001830 disease phenotype-associated VAR_001830 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] VAR_001831 commonName VAR_001831 VAR_001831 disease phenotype-associated VAR_001831 phenoCommon Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600] VAR_001832 commonName VAR_001832 VAR_001832 disease phenotype-associated VAR_001832 phenoCommon Epidermolysis bullosa dystrophica pretibial type (PR-DEB) [MIM:131850] VAR_001833 commonName VAR_001833 VAR_001833 disease phenotype-associated VAR_001833 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] VAR_001834 commonName VAR_001834 VAR_001834 disease phenotype-associated VAR_001834 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] VAR_001835 commonName VAR_001835 VAR_001835 disease phenotype-associated VAR_001835 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] VAR_001836 commonName VAR_001836 VAR_001836 disease phenotype-associated VAR_001836 phenoCommon Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600] VAR_001837 commonName VAR_001837 VAR_001837 disease phenotype-associated VAR_001837 phenoCommon Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600] VAR_001838 commonName VAR_001838 VAR_001838 disease phenotype-associated VAR_001838 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] VAR_001839 commonName VAR_001839 VAR_001839 disease phenotype-associated VAR_001839 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] VAR_001840 commonName VAR_001840 VAR_001840 disease not phenotype-associated VAR_001841 commonName VAR_001841 VAR_001841 disease phenotype-associated VAR_001841 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] VAR_001842 commonName VAR_001842 VAR_001842 disease phenotype-associated VAR_001842 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] VAR_001843 commonName VAR_001843 VAR_001843 disease phenotype-associated VAR_001843 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] VAR_001844 commonName VAR_001844 VAR_001844 disease phenotype-associated VAR_001844 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] VAR_001845 commonName VAR_001845 VAR_001845 disease phenotype-associated HbVar.674 protEffect HBD 117(G18) Arg>His VAR_001845 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] VAR_001846 commonName VAR_001846 VAR_001846 disease phenotype-associated VAR_001846 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] VAR_001847 commonName VAR_001847 VAR_001847 disease phenotype-associated VAR_001847 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] VAR_001848 commonName VAR_001848 VAR_001848 disease phenotype-associated VAR_001848 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] VAR_001849 commonName VAR_001849 VAR_001849 disease phenotype-associated VAR_001849 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] VAR_001850 commonName VAR_001850 VAR_001850 disease phenotype-associated VAR_001850 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] VAR_001852 commonName VAR_001852 VAR_001852 disease phenotype-associated VAR_001852 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200] VAR_001853 commonName VAR_001853 VAR_001853 disease not phenotype-associated VAR_001854 commonName VAR_001854 VAR_001854 disease not phenotype-associated VAR_001855 commonName VAR_001855 VAR_001855 disease phenotype-associated VAR_001855 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200] VAR_001856 commonName VAR_001856 VAR_001856 disease phenotype-associated VAR_001856 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001857 commonName VAR_001857 VAR_001857 disease phenotype-associated VAR_001857 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_001858 commonName VAR_001858 VAR_001858 disease phenotype-associated VAR_001858 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_001860 commonName VAR_001860 VAR_001860 disease phenotype-associated VAR_001860 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_001861 commonName VAR_001861 VAR_001861 disease phenotype-associated VAR_001861 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001862 commonName VAR_001862 VAR_001862 disease phenotype-associated VAR_001862 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001863 commonName VAR_001863 VAR_001863 disease phenotype-associated VAR_001863 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_001864 commonName VAR_001864 VAR_001864 disease phenotype-associated VAR_001864 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001865 commonName VAR_001865 VAR_001865 disease phenotype-associated VAR_001865 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_001866 commonName VAR_001866 VAR_001866 disease phenotype-associated VAR_001866 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001867 commonName VAR_001867 VAR_001867 disease not phenotype-associated VAR_001868 commonName VAR_001868 VAR_001868 disease phenotype-associated VAR_001868 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001869 commonName VAR_001869 VAR_001869 disease phenotype-associated VAR_001869 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001870 commonName VAR_001870 VAR_001870 disease phenotype-associated VAR_001870 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001871 commonName VAR_001871 VAR_001871 disease phenotype-associated VAR_001871 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220] VAR_001872 commonName VAR_001872 VAR_001872 disease phenotype-associated VAR_001872 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001873 commonName VAR_001873 VAR_001873 disease phenotype-associated VAR_001873 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001874 commonName VAR_001874 VAR_001874 disease phenotype-associated VAR_001874 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001875 commonName VAR_001875 VAR_001875 disease phenotype-associated VAR_001875 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_001875 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220] VAR_001876 commonName VAR_001876 VAR_001877 commonName VAR_001877 VAR_001877 disease phenotype-associated VAR_001877 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001878 commonName VAR_001878 VAR_001878 disease phenotype-associated VAR_001878 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001879 commonName VAR_001879 VAR_001879 disease phenotype-associated VAR_001879 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200] VAR_001880 commonName VAR_001880 VAR_001880 disease not phenotype-associated VAR_001881 commonName VAR_001881 VAR_001881 disease phenotype-associated VAR_001881 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220] VAR_001882 commonName VAR_001882 VAR_001882 disease phenotype-associated VAR_001882 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001883 commonName VAR_001883 VAR_001883 disease phenotype-associated VAR_001883 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220] VAR_001884 commonName VAR_001884 VAR_001884 disease phenotype-associated VAR_001884 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_001885 commonName VAR_001885 VAR_001885 disease phenotype-associated VAR_001885 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001886 commonName VAR_001886 VAR_001886 disease phenotype-associated VAR_001886 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001887 commonName VAR_001887 VAR_001887 disease phenotype-associated VAR_001887 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001888 commonName VAR_001888 VAR_001888 disease phenotype-associated VAR_001888 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001889 commonName VAR_001889 VAR_001889 disease not phenotype-associated VAR_001890 commonName VAR_001890 VAR_001890 disease phenotype-associated VAR_001890 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200] VAR_001891 commonName VAR_001891 VAR_001891 disease phenotype-associated VAR_001891 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001892 commonName VAR_001892 VAR_001892 disease phenotype-associated VAR_001892 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_001892 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220] VAR_001893 commonName VAR_001893 VAR_001893 disease phenotype-associated VAR_001893 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001894 commonName VAR_001894 VAR_001894 disease phenotype-associated VAR_001894 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_001895 commonName VAR_001895 VAR_001895 disease phenotype-associated VAR_001895 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001896 commonName VAR_001896 VAR_001896 disease phenotype-associated VAR_001896 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001897 commonName VAR_001897 VAR_001897 disease phenotype-associated VAR_001897 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_001897 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220] VAR_001898 commonName VAR_001898 VAR_001898 disease not phenotype-associated VAR_001899 commonName VAR_001899 VAR_001899 disease phenotype-associated VAR_001899 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001900 commonName VAR_001900 VAR_001900 disease phenotype-associated VAR_001900 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_001901 commonName VAR_001901 VAR_001901 disease phenotype-associated VAR_001901 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_001902 commonName VAR_001902 VAR_001902 disease phenotype-associated VAR_001902 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220] VAR_001903 commonName VAR_001903 VAR_001903 disease not phenotype-associated VAR_001904 commonName VAR_001904 VAR_001904 disease phenotype-associated VAR_001904 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_001905 commonName VAR_001905 VAR_001905 disease not phenotype-associated VAR_001906 commonName VAR_001906 VAR_001906 disease not phenotype-associated VAR_001908 commonName VAR_001908 VAR_001908 disease not phenotype-associated VAR_001909 commonName VAR_001909 VAR_001909 disease not phenotype-associated VAR_001910 commonName VAR_001910 VAR_001910 disease phenotype-associated VAR_001910 phenoCommon Bethlem myopathy (BM) [MIM:158810] VAR_001911 commonName VAR_001911 VAR_001911 disease not phenotype-associated VAR_001912 commonName VAR_001912 VAR_001912 disease phenotype-associated VAR_001912 phenoCommon Benign familial hematuria (BFH) [MIM:141200] VAR_001913 commonName VAR_001913 VAR_001913 disease phenotype-associated VAR_001913 phenoCommon Alport syndrome autosomal recessive (APSAR) [MIM:203780] VAR_001975 commonName VAR_001975 VAR_001975 disease not phenotype-associated VAR_001978 commonName VAR_001978 VAR_001978 disease not phenotype-associated VAR_001979 commonName VAR_001979 VAR_001979 disease not phenotype-associated VAR_001980 commonName VAR_001980 VAR_001980 disease not phenotype-associated VAR_001981 commonName VAR_001981 VAR_001981 disease not phenotype-associated VAR_001982 commonName VAR_001982 VAR_001982 disease not phenotype-associated VAR_001983 commonName VAR_001983 VAR_001983 disease not phenotype-associated VAR_001984 commonName VAR_001984 VAR_001984 disease not phenotype-associated VAR_001985 commonName VAR_001985 VAR_001985 disease phenotype-associated VAR_001985 phenoCommon Complement component 3 deficiency (C3D) [MIM:613779] VAR_001986 commonName VAR_001986 VAR_001986 disease phenotype-associated VAR_001986 phenoCommon Complement component 3 deficiency (C3D) [MIM:613779] VAR_001996 commonName VAR_001996 VAR_001996 disease not phenotype-associated VAR_001997 commonName VAR_001997 VAR_001997 disease not phenotype-associated VAR_001998 commonName VAR_001998 VAR_001999 commonName VAR_001999 VAR_002000 commonName VAR_002000 VAR_002000 disease not phenotype-associated VAR_002001 commonName VAR_002001 VAR_002001 disease not phenotype-associated VAR_002002 commonName VAR_002002 VAR_002002 disease phenotype-associated VAR_002002 phenoCommon Properdin deficiency (PFD) [MIM:312060] VAR_002003 commonName VAR_002003 VAR_002003 disease phenotype-associated VAR_002003 phenoCommon Properdin deficiency (PFD) [MIM:312060] VAR_002004 commonName VAR_002004 VAR_002004 disease phenotype-associated VAR_002004 phenoCommon Properdin deficiency (PFD) [MIM:312060] VAR_002005 commonName VAR_002005 VAR_002005 disease phenotype-associated VAR_002005 phenoCommon Cataract zonular pulverulent type 1 (CZP1) [MIM:116200] VAR_002006 commonName VAR_002006 VAR_002006 disease phenotype-associated VAR_002006 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002007 commonName VAR_002007 VAR_002007 disease phenotype-associated VAR_002007 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002008 commonName VAR_002008 VAR_002008 disease phenotype-associated VAR_002008 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002009 commonName VAR_002009 VAR_002009 disease phenotype-associated VAR_002009 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002010 commonName VAR_002010 VAR_002010 disease phenotype-associated VAR_002010 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002011 commonName VAR_002011 VAR_002011 disease phenotype-associated VAR_002011 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002012 commonName VAR_002012 VAR_002012 disease phenotype-associated VAR_002012 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002013 commonName VAR_002013 VAR_002013 disease phenotype-associated VAR_002013 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002014 commonName VAR_002014 VAR_002014 disease phenotype-associated VAR_002014 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002015 commonName VAR_002015 VAR_002015 disease phenotype-associated VAR_002015 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002016 commonName VAR_002016 VAR_002016 disease phenotype-associated VAR_002016 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002017 commonName VAR_002017 VAR_002017 disease phenotype-associated VAR_002017 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002018 commonName VAR_002018 VAR_002018 disease phenotype-associated VAR_002018 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002019 commonName VAR_002019 VAR_002019 disease phenotype-associated VAR_002019 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002020 commonName VAR_002020 VAR_002020 disease phenotype-associated VAR_002020 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002021 commonName VAR_002021 VAR_002021 disease phenotype-associated VAR_002021 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002022 commonName VAR_002022 VAR_002022 disease phenotype-associated VAR_002022 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002023 commonName VAR_002023 VAR_002023 disease phenotype-associated VAR_002023 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002024 commonName VAR_002024 VAR_002024 disease phenotype-associated VAR_002024 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002025 commonName VAR_002025 VAR_002025 disease phenotype-associated VAR_002025 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002026 commonName VAR_002026 VAR_002026 disease phenotype-associated VAR_002026 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002028 commonName VAR_002028 VAR_002028 disease phenotype-associated VAR_002028 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002029 commonName VAR_002029 VAR_002029 disease phenotype-associated VAR_002029 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002030 commonName VAR_002030 VAR_002030 disease phenotype-associated VAR_002030 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002031 commonName VAR_002031 VAR_002031 disease phenotype-associated VAR_002031 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002032 commonName VAR_002032 VAR_002032 disease phenotype-associated VAR_002032 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002033 commonName VAR_002033 VAR_002033 disease phenotype-associated VAR_002033 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002034 commonName VAR_002034 VAR_002034 disease phenotype-associated VAR_002034 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002035 commonName VAR_002035 VAR_002035 disease phenotype-associated VAR_002035 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002036 commonName VAR_002036 VAR_002036 disease phenotype-associated VAR_002036 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002037 commonName VAR_002037 VAR_002037 disease phenotype-associated VAR_002037 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002038 commonName VAR_002038 VAR_002038 disease phenotype-associated VAR_002038 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002039 commonName VAR_002039 VAR_002039 disease phenotype-associated VAR_002039 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002040 commonName VAR_002040 VAR_002040 disease phenotype-associated VAR_002040 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002041 commonName VAR_002041 VAR_002041 disease phenotype-associated VAR_002041 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002042 commonName VAR_002042 VAR_002042 disease phenotype-associated VAR_002042 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002043 commonName VAR_002043 VAR_002043 disease phenotype-associated VAR_002043 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002044 commonName VAR_002044 VAR_002045 commonName VAR_002045 VAR_002045 disease phenotype-associated VAR_002045 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002046 commonName VAR_002046 VAR_002046 disease phenotype-associated VAR_002046 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002047 commonName VAR_002047 VAR_002047 disease phenotype-associated VAR_002047 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002048 commonName VAR_002048 VAR_002048 disease phenotype-associated VAR_002048 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002049 commonName VAR_002049 VAR_002049 disease phenotype-associated VAR_002049 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002051 commonName VAR_002051 VAR_002051 disease phenotype-associated VAR_002051 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002052 commonName VAR_002052 VAR_002052 disease phenotype-associated VAR_002052 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002053 commonName VAR_002053 VAR_002053 disease phenotype-associated VAR_002053 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002054 commonName VAR_002054 VAR_002054 disease phenotype-associated VAR_002054 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002055 commonName VAR_002055 VAR_002055 disease phenotype-associated VAR_002055 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002056 commonName VAR_002056 VAR_002056 disease phenotype-associated VAR_002056 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002057 commonName VAR_002057 VAR_002057 disease phenotype-associated VAR_002057 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002058 commonName VAR_002058 VAR_002058 disease phenotype-associated VAR_002058 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002059 commonName VAR_002059 VAR_002059 disease phenotype-associated VAR_002059 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002060 commonName VAR_002060 VAR_002060 disease phenotype-associated VAR_002060 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002061 commonName VAR_002061 VAR_002061 disease phenotype-associated VAR_002061 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002062 commonName VAR_002062 VAR_002062 disease phenotype-associated VAR_002062 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002063 commonName VAR_002063 VAR_002063 disease phenotype-associated VAR_002063 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002064 commonName VAR_002064 VAR_002064 disease phenotype-associated VAR_002064 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002065 commonName VAR_002065 VAR_002065 disease phenotype-associated VAR_002065 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002066 commonName VAR_002066 VAR_002066 disease phenotype-associated VAR_002066 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002067 commonName VAR_002067 VAR_002067 disease phenotype-associated VAR_002067 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002068 commonName VAR_002068 VAR_002068 disease phenotype-associated VAR_002068 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002069 commonName VAR_002069 VAR_002069 disease phenotype-associated VAR_002069 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002070 commonName VAR_002070 VAR_002070 disease phenotype-associated VAR_002070 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002071 commonName VAR_002071 VAR_002071 disease phenotype-associated VAR_002071 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002072 commonName VAR_002072 VAR_002072 disease phenotype-associated VAR_002072 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002073 commonName VAR_002073 VAR_002073 disease phenotype-associated VAR_002073 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002074 commonName VAR_002074 VAR_002074 disease phenotype-associated VAR_002074 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002075 commonName VAR_002075 VAR_002075 disease phenotype-associated VAR_002075 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002076 commonName VAR_002076 VAR_002076 disease phenotype-associated VAR_002076 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002078 commonName VAR_002078 VAR_002078 disease phenotype-associated VAR_002078 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002079 commonName VAR_002079 VAR_002079 disease phenotype-associated VAR_002079 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002080 commonName VAR_002080 VAR_002080 disease phenotype-associated VAR_002080 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002081 commonName VAR_002081 VAR_002081 disease phenotype-associated VAR_002081 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002082 commonName VAR_002082 VAR_002082 disease phenotype-associated VAR_002082 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002083 commonName VAR_002083 VAR_002083 disease phenotype-associated VAR_002083 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002084 commonName VAR_002084 VAR_002084 disease phenotype-associated VAR_002084 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002085 commonName VAR_002085 VAR_002085 disease phenotype-associated VAR_002085 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002086 commonName VAR_002086 VAR_002086 disease phenotype-associated VAR_002086 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002088 commonName VAR_002088 VAR_002088 disease phenotype-associated VAR_002088 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002089 commonName VAR_002089 VAR_002089 disease phenotype-associated VAR_002089 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002090 commonName VAR_002090 VAR_002090 disease phenotype-associated VAR_002090 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002091 commonName VAR_002091 VAR_002091 disease phenotype-associated VAR_002091 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002092 commonName VAR_002092 VAR_002092 disease phenotype-associated VAR_002092 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002093 commonName VAR_002093 VAR_002093 disease phenotype-associated VAR_002093 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002094 commonName VAR_002094 VAR_002094 disease phenotype-associated VAR_002094 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002095 commonName VAR_002095 VAR_002095 disease phenotype-associated VAR_002095 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002096 commonName VAR_002096 VAR_002096 disease phenotype-associated VAR_002096 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002097 commonName VAR_002097 VAR_002097 disease phenotype-associated VAR_002097 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002098 commonName VAR_002098 VAR_002098 disease phenotype-associated VAR_002098 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002099 commonName VAR_002099 VAR_002099 disease phenotype-associated VAR_002099 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002100 commonName VAR_002100 VAR_002100 disease phenotype-associated VAR_002100 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002101 commonName VAR_002101 VAR_002101 disease phenotype-associated VAR_002101 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002102 commonName VAR_002102 VAR_002102 disease phenotype-associated VAR_002102 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002103 commonName VAR_002103 VAR_002104 commonName VAR_002104 VAR_002104 disease phenotype-associated VAR_002104 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002105 commonName VAR_002105 VAR_002105 disease phenotype-associated VAR_002105 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002106 commonName VAR_002106 VAR_002106 disease phenotype-associated VAR_002106 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002107 commonName VAR_002107 VAR_002107 disease phenotype-associated VAR_002107 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002108 commonName VAR_002108 VAR_002108 disease phenotype-associated VAR_002108 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002109 commonName VAR_002109 VAR_002109 disease phenotype-associated VAR_002109 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002110 commonName VAR_002110 VAR_002110 disease phenotype-associated VAR_002110 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002111 commonName VAR_002111 VAR_002111 disease phenotype-associated VAR_002111 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002112 commonName VAR_002112 VAR_002112 disease phenotype-associated VAR_002112 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002114 commonName VAR_002114 VAR_002114 disease phenotype-associated VAR_002114 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002115 commonName VAR_002115 VAR_002115 disease phenotype-associated VAR_002115 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002116 commonName VAR_002116 VAR_002116 disease phenotype-associated VAR_002116 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002117 commonName VAR_002117 VAR_002117 disease phenotype-associated VAR_002117 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002119 commonName VAR_002119 VAR_002119 disease phenotype-associated VAR_002119 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002120 commonName VAR_002120 VAR_002120 disease phenotype-associated VAR_002120 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002121 commonName VAR_002121 VAR_002121 disease phenotype-associated VAR_002121 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002122 commonName VAR_002122 VAR_002122 disease phenotype-associated VAR_002122 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002123 commonName VAR_002123 VAR_002123 disease phenotype-associated VAR_002123 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002124 commonName VAR_002124 VAR_002124 disease phenotype-associated VAR_002124 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002125 commonName VAR_002125 VAR_002125 disease phenotype-associated VAR_002125 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002126 commonName VAR_002126 VAR_002126 disease phenotype-associated VAR_002126 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002127 commonName VAR_002127 VAR_002127 disease phenotype-associated VAR_002127 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002129 commonName VAR_002129 VAR_002129 disease phenotype-associated VAR_002129 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002130 commonName VAR_002130 VAR_002130 disease phenotype-associated VAR_002130 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002131 commonName VAR_002131 VAR_002131 disease phenotype-associated VAR_002131 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002132 commonName VAR_002132 VAR_002132 disease phenotype-associated VAR_002132 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002133 commonName VAR_002133 VAR_002133 disease phenotype-associated VAR_002133 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002134 commonName VAR_002134 VAR_002134 disease phenotype-associated VAR_002134 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002135 commonName VAR_002135 VAR_002135 disease phenotype-associated VAR_002135 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002136 commonName VAR_002136 VAR_002136 disease phenotype-associated VAR_002136 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_002137 commonName VAR_002137 VAR_002137 disease not phenotype-associated VAR_002138 commonName VAR_002138 VAR_002139 commonName VAR_002139 VAR_002139 disease phenotype-associated VAR_002139 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] VAR_002140 commonName VAR_002140 VAR_002140 disease phenotype-associated VAR_002140 phenoCommon Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544] VAR_002140 phenoCommon Palmoplantar keratoderma with deafness (PPKDFN) [MIM:148350] VAR_002141 commonName VAR_002141 VAR_002141 disease phenotype-associated VAR_002141 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] VAR_002142 commonName VAR_002142 VAR_002142 disease not phenotype-associated VAR_002143 commonName VAR_002143 VAR_002143 disease phenotype-associated VAR_002143 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] VAR_002144 commonName VAR_002144 VAR_002144 disease phenotype-associated VAR_002144 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] VAR_002145 commonName VAR_002145 VAR_002145 disease phenotype-associated VAR_002145 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] VAR_002146 commonName VAR_002146 VAR_002146 disease not phenotype-associated VAR_002147 commonName VAR_002147 VAR_002147 disease phenotype-associated VAR_002147 phenoCommon Erythrokeratodermia variabilis (EKV) [MIM:133200] VAR_002148 commonName VAR_002148 VAR_002148 disease phenotype-associated VAR_002148 phenoCommon Erythrokeratodermia variabilis (EKV) [MIM:133200] VAR_002149 commonName VAR_002149 VAR_002149 disease phenotype-associated VAR_002149 phenoCommon Erythrokeratodermia variabilis (EKV) [MIM:133200] VAR_002150 commonName VAR_002150 VAR_002150 disease phenotype-associated VAR_002150 phenoCommon Deafness autosomal dominant type 2B (DFNA2B) [MIM:612644] VAR_002152 commonName VAR_002152 VAR_002152 disease phenotype-associated VAR_002152 phenoCommon Hereditary coproporphyria (HCP) [MIM:121300] VAR_002153 commonName VAR_002153 VAR_002153 disease phenotype-associated VAR_002153 phenoCommon Hereditary coproporphyria (HCP) [MIM:121300] VAR_002154 commonName VAR_002154 VAR_002154 disease phenotype-associated VAR_002154 phenoCommon Hereditary coproporphyria (HCP) [MIM:121300] VAR_002155 commonName VAR_002155 VAR_002155 disease phenotype-associated VAR_002155 phenoCommon Hereditary coproporphyria (HCP) [MIM:121300] VAR_002156 commonName VAR_002156 VAR_002156 disease not phenotype-associated VAR_002157 commonName VAR_002157 VAR_002157 disease phenotype-associated VAR_002157 phenoCommon Hereditary coproporphyria (HCP) [MIM:121300] VAR_002158 commonName VAR_002158 VAR_002158 disease not phenotype-associated VAR_002159 commonName VAR_002159 VAR_002159 disease phenotype-associated VAR_002159 phenoCommon Hereditary coproporphyria (HCP) [MIM:121300] VAR_002160 commonName VAR_002160 VAR_002160 disease phenotype-associated VAR_002160 phenoCommon Hereditary coproporphyria (HCP) [MIM:121300] VAR_002162 commonName VAR_002162 VAR_002162 disease phenotype-associated VAR_002162 phenoCommon Hereditary coproporphyria (HCP) [MIM:121300] VAR_002163 commonName VAR_002163 VAR_002163 disease phenotype-associated VAR_002163 phenoCommon Hereditary coproporphyria (HCP) [MIM:121300] VAR_002164 commonName VAR_002164 VAR_002165 commonName VAR_002165 VAR_002166 commonName VAR_002166 VAR_002170 commonName VAR_002170 VAR_002170 disease not phenotype-associated VAR_002171 commonName VAR_002171 VAR_002171 disease phenotype-associated VAR_002171 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_002172 commonName VAR_002172 VAR_002172 disease phenotype-associated VAR_002172 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_002173 commonName VAR_002173 VAR_002173 disease phenotype-associated VAR_002173 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_002174 commonName VAR_002174 VAR_002174 disease phenotype-associated VAR_002174 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_002175 commonName VAR_002175 VAR_002175 disease phenotype-associated VAR_002175 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_002176 commonName VAR_002176 VAR_002176 disease phenotype-associated VAR_002176 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_002177 commonName VAR_002177 VAR_002177 disease phenotype-associated VAR_002177 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_002178 commonName VAR_002178 VAR_002178 disease phenotype-associated VAR_002178 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_002179 commonName VAR_002179 VAR_002179 disease phenotype-associated VAR_002179 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_002180 commonName VAR_002180 VAR_002180 disease phenotype-associated VAR_002180 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_002181 commonName VAR_002181 VAR_002181 disease phenotype-associated VAR_002181 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_002182 commonName VAR_002182 VAR_002182 disease phenotype-associated VAR_002182 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_002183 commonName VAR_002183 VAR_002183 disease phenotype-associated VAR_002183 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_002184 commonName VAR_002184 VAR_002184 disease phenotype-associated VAR_002184 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_002185 commonName VAR_002185 VAR_002185 disease phenotype-associated VAR_002185 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_002186 commonName VAR_002186 VAR_002186 disease phenotype-associated VAR_002186 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_002187 commonName VAR_002187 VAR_002187 disease phenotype-associated VAR_002187 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_002188 commonName VAR_002188 VAR_002188 disease phenotype-associated VAR_002188 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_002189 commonName VAR_002189 VAR_002189 disease phenotype-associated VAR_002189 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_002190 commonName VAR_002190 VAR_002190 disease phenotype-associated VAR_002190 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_002191 commonName VAR_002191 VAR_002191 disease phenotype-associated VAR_002191 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_002192 commonName VAR_002192 VAR_002192 disease phenotype-associated VAR_002192 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_002196 commonName VAR_002196 VAR_002196 disease not phenotype-associated VAR_002200 commonName VAR_002200 VAR_002200 disease phenotype-associated VAR_002200 phenoCommon Isolated sulfite oxidase deficiency (ISOD) [MIM:272300] VAR_002201 commonName VAR_002201 VAR_002201 disease phenotype-associated VAR_002201 phenoCommon Isolated sulfite oxidase deficiency (ISOD) [MIM:272300] VAR_002202 commonName VAR_002202 VAR_002202 disease phenotype-associated VAR_002202 phenoCommon Isolated sulfite oxidase deficiency (ISOD) [MIM:272300] VAR_002203 commonName VAR_002203 VAR_002203 disease phenotype-associated VAR_002203 phenoCommon Isolated sulfite oxidase deficiency (ISOD) [MIM:272300] VAR_002204 commonName VAR_002204 VAR_002206 commonName VAR_002206 VAR_002206 disease phenotype-associated VAR_002206 phenoCommon Progressive myoclonic epilepsy type 1 (EPM1) [MIM:254800] VAR_002207 commonName VAR_002207 VAR_002207 disease phenotype-associated VAR_002207 phenoCommon Amyloidosis type 6 (AMYL6) [MIM:105150] VAR_002208 commonName VAR_002208 VAR_002208 disease not phenotype-associated VAR_002209 commonName VAR_002209 VAR_002209 disease not phenotype-associated VAR_002210 commonName VAR_002210 VAR_002210 disease phenotype-associated VAR_002210 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] VAR_002211 commonName VAR_002211 VAR_002211 disease phenotype-associated VAR_002211 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] VAR_002212 commonName VAR_002212 VAR_002212 disease phenotype-associated VAR_002212 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] VAR_002213 commonName VAR_002213 VAR_002213 disease phenotype-associated VAR_002213 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] VAR_002214 commonName VAR_002214 VAR_002214 disease not phenotype-associated VAR_002215 commonName VAR_002215 VAR_002215 disease phenotype-associated VAR_002215 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] VAR_002216 commonName VAR_002216 VAR_002216 disease phenotype-associated VAR_002216 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] VAR_002217 commonName VAR_002217 VAR_002217 disease phenotype-associated VAR_002217 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] VAR_002218 commonName VAR_002218 VAR_002218 disease phenotype-associated VAR_002218 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] VAR_002219 commonName VAR_002219 VAR_002219 disease phenotype-associated VAR_002219 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] VAR_002220 commonName VAR_002220 VAR_002220 disease phenotype-associated VAR_002220 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] VAR_002221 commonName VAR_002221 VAR_002221 disease phenotype-associated VAR_002221 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] VAR_002222 comment A pancreatic ductal adenocarcinoma sample VAR_002222 commonName VAR_002222 VAR_002223 commonName VAR_002223 VAR_002223 disease phenotype-associated VAR_002223 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] VAR_002224 commonName VAR_002224 VAR_002224 disease phenotype-associated VAR_002224 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] VAR_002225 commonName VAR_002225 VAR_002225 disease not phenotype-associated VAR_002226 commonName VAR_002226 VAR_002226 disease phenotype-associated VAR_002226 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] VAR_002227 commonName VAR_002227 VAR_002227 disease phenotype-associated VAR_002227 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] VAR_002228 commonName VAR_002228 VAR_002228 disease phenotype-associated VAR_002228 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] VAR_002229 commonName VAR_002229 VAR_002229 disease phenotype-associated VAR_002229 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] VAR_002230 commonName VAR_002230 VAR_002230 disease phenotype-associated VAR_002230 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] VAR_002231 commonName VAR_002231 VAR_002231 disease phenotype-associated VAR_002231 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] VAR_002232 commonName VAR_002232 VAR_002232 disease phenotype-associated VAR_002232 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] VAR_002233 commonName VAR_002233 VAR_002233 disease phenotype-associated VAR_002233 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] VAR_002234 commonName VAR_002234 VAR_002234 disease phenotype-associated VAR_002234 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] VAR_002235 commonName VAR_002235 VAR_002235 disease not phenotype-associated VAR_002236 commonName VAR_002236 VAR_002236 disease phenotype-associated VAR_002236 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] VAR_002237 commonName VAR_002237 VAR_002237 disease phenotype-associated VAR_002237 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] VAR_002238 commonName VAR_002238 VAR_002238 disease phenotype-associated VAR_002238 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] VAR_002239 commonName VAR_002239 VAR_002239 disease phenotype-associated VAR_002239 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] VAR_002240 commonName VAR_002240 VAR_002240 disease phenotype-associated VAR_002240 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] VAR_002243 commonName VAR_002243 VAR_002243 disease not phenotype-associated VAR_002244 commonName VAR_002244 VAR_002244 disease phenotype-associated VAR_002244 phenoCommon Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179] VAR_002245 commonName VAR_002245 VAR_002245 disease phenotype-associated VAR_002245 phenoCommon Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179] VAR_002248 commonName VAR_002248 VAR_002248 disease not phenotype-associated VAR_002249 commonName VAR_002249 VAR_002249 disease phenotype-associated VAR_002249 phenoCommon Sjoegren-Larsson syndrome (SLS) [MIM:270200] VAR_002250 commonName VAR_002250 VAR_002250 disease phenotype-associated VAR_002250 phenoCommon Sjoegren-Larsson syndrome (SLS) [MIM:270200] VAR_002251 commonName VAR_002251 VAR_002251 disease phenotype-associated VAR_002251 phenoCommon Sjoegren-Larsson syndrome (SLS) [MIM:270200] VAR_002252 commonName VAR_002252 VAR_002252 disease phenotype-associated VAR_002252 phenoCommon Sjoegren-Larsson syndrome (SLS) [MIM:270200] VAR_002257 commonName VAR_002257 VAR_002257 disease not phenotype-associated VAR_002258 commonName VAR_002258 VAR_002258 disease not phenotype-associated VAR_002259 commonName VAR_002259 VAR_002259 disease not phenotype-associated VAR_002260 commonName VAR_002260 VAR_002260 disease phenotype-associated VAR_002260 phenoCommon Hyperprolinemia type 2 (HP-2) [MIM:239510] VAR_002262 commonName VAR_002262 VAR_002264 commonName VAR_002264 VAR_002264 disease not phenotype-associated VAR_002265 commonName VAR_002265 VAR_002265 disease not phenotype-associated VAR_002266 commonName VAR_002266 VAR_002266 disease not phenotype-associated VAR_002267 commonName VAR_002267 VAR_002267 disease phenotype-associated VAR_002267 phenoCommon Dihydropyrimidinase deficiency (DHPD) [MIM:222748] VAR_002268 commonName VAR_002268 VAR_002268 disease phenotype-associated VAR_002268 phenoCommon Dihydropyrimidinase deficiency (DHPD) [MIM:222748] VAR_002269 commonName VAR_002269 VAR_002269 disease phenotype-associated VAR_002269 phenoCommon Dihydropyrimidinase deficiency (DHPD) [MIM:222748] VAR_002270 commonName VAR_002270 VAR_002270 disease phenotype-associated VAR_002270 phenoCommon Dihydropyrimidinase deficiency (DHPD) [MIM:222748] VAR_002271 commonName VAR_002271 VAR_002271 disease phenotype-associated VAR_002271 phenoCommon Dihydropyrimidinase deficiency (DHPD) [MIM:222748] VAR_002272 commonName VAR_002272 VAR_002272 disease not phenotype-associated VAR_002273 commonName VAR_002273 VAR_002273 disease phenotype-associated VAR_002273 phenoCommon Long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD deficiency) [MIM:609016] VAR_002273 phenoCommon Maternal acute fatty liver of pregnancy (AFLP) [MIM:609016] VAR_002275 commonName VAR_002275 VAR_002275 disease not phenotype-associated VAR_002349 commonName VAR_002349 VAR_002349 disease not phenotype-associated VAR_002350 commonName VAR_002350 VAR_002350 disease phenotype-associated VAR_002350 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050] VAR_002351 commonName VAR_002351 VAR_002351 disease phenotype-associated VAR_002351 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050] VAR_002352 commonName VAR_002352 VAR_002352 disease not phenotype-associated VAR_002353 commonName VAR_002353 VAR_002353 disease phenotype-associated VAR_002353 phenoCommon Waardenburg syndrome type 4 (WS4B) [MIM:613265] VAR_002354 commonName VAR_002354 VAR_002354 disease not phenotype-associated VAR_002355 commonName VAR_002355 VAR_002355 disease not phenotype-associated VAR_002356 commonName VAR_002356 VAR_002356 disease not phenotype-associated VAR_002359 commonName VAR_002359 VAR_002359 disease not phenotype-associated VAR_002360 commonName VAR_002360 VAR_002360 disease phenotype-associated VAR_002360 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] VAR_002362 commonName VAR_002362 VAR_002362 disease phenotype-associated VAR_002362 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] VAR_002364 commonName VAR_002364 VAR_002364 disease phenotype-associated VAR_002364 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] VAR_002365 commonName VAR_002365 VAR_002365 disease not phenotype-associated VAR_002366 commonName VAR_002366 VAR_002366 disease phenotype-associated VAR_002366 phenoCommon Glutaric aciduria type 2A (GA2A) [MIM:231680] VAR_002367 commonName VAR_002367 VAR_002367 disease phenotype-associated VAR_002367 phenoCommon Glutaric aciduria type 2A (GA2A) [MIM:231680] VAR_002368 commonName VAR_002368 VAR_002368 disease phenotype-associated VAR_002368 phenoCommon Glutaric aciduria type 2A (GA2A) [MIM:231680] VAR_002369 commonName VAR_002369 VAR_002369 disease phenotype-associated VAR_002369 phenoCommon Glutaric aciduria type 2B (GA2B) [MIM:231680] VAR_002370 commonName VAR_002370 VAR_002370 disease phenotype-associated VAR_002370 phenoCommon Hereditary multiple exostoses type 1 (EXT1) [MIM:133700] VAR_002371 commonName VAR_002371 VAR_002371 disease phenotype-associated VAR_002371 phenoCommon Hereditary multiple exostoses type 1 (EXT1) [MIM:133700] VAR_002372 commonName VAR_002372 VAR_002372 disease phenotype-associated VAR_002372 phenoCommon Hereditary multiple exostoses type 1 (EXT1) [MIM:133700] VAR_002373 commonName VAR_002373 VAR_002373 disease phenotype-associated VAR_002373 phenoCommon Hereditary multiple exostoses type 1 (EXT1) [MIM:133700] VAR_002374 commonName VAR_002374 VAR_002374 disease phenotype-associated VAR_002374 phenoCommon Hereditary multiple exostoses type 1 (EXT1) [MIM:133700] VAR_002375 commonName VAR_002375 VAR_002375 disease phenotype-associated VAR_002375 phenoCommon Hereditary multiple exostoses type 1 (EXT1) [MIM:133700] VAR_002376 commonName VAR_002376 VAR_002376 disease phenotype-associated VAR_002376 phenoCommon Hereditary multiple exostoses type 1 (EXT1) [MIM:133700] VAR_002378 commonName VAR_002378 VAR_002378 disease phenotype-associated VAR_002378 phenoCommon Hereditary multiple exostoses type 2 (EXT2) [MIM:133701] VAR_002379 commonName VAR_002379 VAR_002379 disease not phenotype-associated VAR_002380 commonName VAR_002380 VAR_002380 disease phenotype-associated VAR_002380 phenoCommon Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700] VAR_002381 commonName VAR_002381 VAR_002381 disease phenotype-associated VAR_002381 phenoCommon Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700] VAR_002382 commonName VAR_002382 VAR_002382 disease not phenotype-associated VAR_002383 commonName VAR_002383 VAR_002383 disease phenotype-associated VAR_002383 phenoCommon Erythropoietic protoporphyria (EPP) [MIM:177000] VAR_002384 commonName VAR_002384 VAR_002384 disease phenotype-associated VAR_002384 phenoCommon Erythropoietic protoporphyria (EPP) [MIM:177000] VAR_002385 commonName VAR_002385 VAR_002385 disease phenotype-associated VAR_002385 phenoCommon Erythropoietic protoporphyria (EPP) [MIM:177000] VAR_002390 commonName VAR_002390 VAR_002391 commonName VAR_002391 VAR_002392 commonName VAR_002392 VAR_002392 disease not phenotype-associated VAR_002393 commonName VAR_002393 VAR_002393 disease not phenotype-associated VAR_002394 commonName VAR_002394 VAR_002395 commonName VAR_002395 VAR_002396 commonName VAR_002396 VAR_002397 commonName VAR_002397 VAR_002398 commonName VAR_002398 VAR_002398 disease not phenotype-associated VAR_002399 commonName VAR_002399 VAR_002400 commonName VAR_002400 VAR_002401 commonName VAR_002401 VAR_002403 commonName VAR_002403 VAR_002404 commonName VAR_002404 VAR_002405 commonName VAR_002405 VAR_002406 commonName VAR_002406 VAR_002407 commonName VAR_002407 VAR_002409 commonName VAR_002409 VAR_002410 commonName VAR_002410 VAR_002411 commonName VAR_002411 VAR_002412 commonName VAR_002412 VAR_002413 commonName VAR_002413 VAR_002414 commonName VAR_002414 VAR_002416 commonName VAR_002416 VAR_002417 commonName VAR_002417 VAR_002418 commonName VAR_002418 VAR_002419 commonName VAR_002419 VAR_002421 commonName VAR_002421 VAR_002422 commonName VAR_002422 VAR_002423 commonName VAR_002423 VAR_002423 disease phenotype-associated VAR_002423 phenoCommon Trimethylaminuria (TMAU) [MIM:602079] VAR_002424 commonName VAR_002424 VAR_002424 disease phenotype-associated VAR_002424 phenoCommon Trimethylaminuria (TMAU) [MIM:602079] VAR_002425 commonName VAR_002425 VAR_002425 disease not phenotype-associated VAR_002426 commonName VAR_002426 VAR_002426 disease not phenotype-associated VAR_002427 commonName VAR_002427 VAR_002427 disease not phenotype-associated VAR_002428 commonName VAR_002428 VAR_002428 disease phenotype-associated VAR_002428 phenoCommon Friedreich ataxia (FRDA) [MIM:229300] VAR_002429 commonName VAR_002429 VAR_002429 disease phenotype-associated VAR_002429 phenoCommon Friedreich ataxia (FRDA) [MIM:229300] VAR_002430 commonName VAR_002430 VAR_002430 disease phenotype-associated VAR_002430 phenoCommon Friedreich ataxia (FRDA) [MIM:229300] VAR_002431 commonName VAR_002431 VAR_002431 disease phenotype-associated VAR_002431 phenoCommon Friedreich ataxia (FRDA) [MIM:229300] VAR_002432 commonName VAR_002432 VAR_002432 disease phenotype-associated VAR_002432 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] VAR_002433 commonName VAR_002433 VAR_002433 disease phenotype-associated VAR_002433 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] VAR_002434 commonName VAR_002434 VAR_002434 disease phenotype-associated VAR_002434 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] VAR_002435 commonName VAR_002435 VAR_002435 disease phenotype-associated VAR_002435 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] VAR_002436 commonName VAR_002436 VAR_002436 disease phenotype-associated VAR_002436 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] VAR_002437 commonName VAR_002437 VAR_002437 disease phenotype-associated VAR_002437 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] VAR_002442 commonName VAR_002442 VAR_002442 disease phenotype-associated VAR_002442 phenoCommon Fucosidosis (FUCA1D) [MIM:230000] VAR_002443 commonName VAR_002443 VAR_002443 disease phenotype-associated VAR_002443 phenoCommon Fucosidosis (FUCA1D) [MIM:230000] VAR_002444 commonName VAR_002444 VAR_002444 disease not phenotype-associated VAR_002445 commonName VAR_002445 VAR_002445 disease phenotype-associated VAR_002445 phenoCommon Fumarase deficiency (FHD) [MIM:606812] VAR_002445 phenoCommon Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800] VAR_002446 commonName VAR_002446 VAR_002446 disease phenotype-associated VAR_002446 phenoCommon Fumarase deficiency (FHD) [MIM:606812] VAR_002447 commonName VAR_002447 VAR_002447 disease phenotype-associated VAR_002447 phenoCommon Fumarase deficiency (FHD) [MIM:606812] VAR_002448 commonName VAR_002448 VAR_002448 disease phenotype-associated VAR_002448 phenoCommon Fumarase deficiency (FHD) [MIM:606812] VAR_002450 commonName VAR_002450 VAR_002451 commonName VAR_002451 VAR_002453 commonName VAR_002453 VAR_002454 commonName VAR_002454 VAR_002455 commonName VAR_002455 VAR_002456 commonName VAR_002456 VAR_002456 disease not phenotype-associated VAR_002457 commonName VAR_002457 VAR_002458 commonName VAR_002458 VAR_002459 commonName VAR_002459 VAR_002460 commonName VAR_002460 VAR_002461 commonName VAR_002461 VAR_002462 commonName VAR_002462 VAR_002462 disease not phenotype-associated VAR_002463 commonName VAR_002463 VAR_002464 commonName VAR_002464 VAR_002465 commonName VAR_002465 VAR_002466 commonName VAR_002466 VAR_002467 commonName VAR_002467 VAR_002468 commonName VAR_002468 VAR_002469 commonName VAR_002469 VAR_002470 commonName VAR_002470 VAR_002471 commonName VAR_002471 VAR_002471 disease not phenotype-associated VAR_002472 commonName VAR_002472 VAR_002473 commonName VAR_002473 VAR_002473 disease not phenotype-associated VAR_002474 commonName VAR_002474 VAR_002475 commonName VAR_002475 VAR_002475 disease phenotype-associated VAR_002475 phenoCommon Chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900] VAR_002476 commonName VAR_002476 VAR_002477 commonName VAR_002477 VAR_002478 commonName VAR_002478 VAR_002479 commonName VAR_002479 VAR_002480 commonName VAR_002480 VAR_002482 commonName VAR_002482 VAR_002483 commonName VAR_002483 VAR_002484 commonName VAR_002484 VAR_002485 commonName VAR_002485 VAR_002486 commonName VAR_002486 VAR_002487 commonName VAR_002487 VAR_002488 commonName VAR_002488 VAR_002489 commonName VAR_002489 VAR_002490 commonName VAR_002490 VAR_002491 commonName VAR_002491 VAR_002491 disease not phenotype-associated VAR_002492 commonName VAR_002492 VAR_002493 commonName VAR_002493 VAR_002494 commonName VAR_002494 VAR_002495 commonName VAR_002495 VAR_002496 commonName VAR_002496 VAR_002497 commonName VAR_002497 VAR_002498 commonName VAR_002498 VAR_002498 disease phenotype-associated VAR_002498 phenoCommon Chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900] VAR_002499 commonName VAR_002499 VAR_002500 commonName VAR_002500 VAR_002500 disease phenotype-associated VAR_002500 phenoCommon Chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900] VAR_002501 commonName VAR_002501 VAR_002502 commonName VAR_002502 VAR_002503 commonName VAR_002503 VAR_002504 commonName VAR_002504 VAR_002504 disease phenotype-associated VAR_002504 phenoCommon Chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900] VAR_002505 commonName VAR_002505 VAR_002506 commonName VAR_002506 VAR_002506 disease phenotype-associated VAR_002506 phenoCommon Chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900] VAR_002507 commonName VAR_002507 VAR_002508 commonName VAR_002508 VAR_002509 commonName VAR_002509 VAR_002510 commonName VAR_002510 VAR_002511 commonName VAR_002511 VAR_002512 commonName VAR_002512 VAR_002513 commonName VAR_002513 VAR_002514 commonName VAR_002514 VAR_002515 commonName VAR_002515 VAR_002516 commonName VAR_002516 VAR_002516 disease phenotype-associated VAR_002516 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] VAR_002517 commonName VAR_002517 VAR_002517 disease phenotype-associated VAR_002517 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] VAR_002518 commonName VAR_002518 VAR_002518 disease phenotype-associated VAR_002518 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] VAR_002519 commonName VAR_002519 VAR_002519 disease phenotype-associated VAR_002519 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] VAR_002520 commonName VAR_002520 VAR_002520 disease phenotype-associated VAR_002520 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] VAR_002521 commonName VAR_002521 VAR_002521 disease phenotype-associated VAR_002521 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] VAR_002522 commonName VAR_002522 VAR_002522 disease phenotype-associated VAR_002522 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] VAR_002523 commonName VAR_002523 VAR_002523 disease phenotype-associated VAR_002523 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] VAR_002524 commonName VAR_002524 VAR_002524 disease phenotype-associated VAR_002524 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] VAR_002525 commonName VAR_002525 VAR_002525 disease phenotype-associated VAR_002525 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] VAR_002526 commonName VAR_002526 VAR_002526 disease phenotype-associated VAR_002526 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] VAR_002527 commonName VAR_002527 VAR_002527 disease phenotype-associated VAR_002527 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] VAR_002528 commonName VAR_002528 VAR_002528 disease phenotype-associated VAR_002528 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] VAR_002529 commonName VAR_002529 VAR_002529 disease phenotype-associated VAR_002529 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] VAR_002530 commonName VAR_002530 VAR_002530 disease phenotype-associated VAR_002530 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] VAR_002531 commonName VAR_002531 VAR_002531 disease phenotype-associated VAR_002531 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] VAR_002532 commonName VAR_002532 VAR_002532 disease phenotype-associated VAR_002532 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] VAR_002533 commonName VAR_002533 VAR_002533 disease phenotype-associated VAR_002533 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] VAR_002534 commonName VAR_002534 VAR_002534 disease phenotype-associated VAR_002534 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] VAR_002535 commonName VAR_002535 VAR_002535 disease phenotype-associated VAR_002535 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] VAR_002536 commonName VAR_002536 VAR_002536 disease phenotype-associated VAR_002536 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] VAR_002537 commonName VAR_002537 VAR_002537 disease phenotype-associated VAR_002537 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] VAR_002538 commonName VAR_002538 VAR_002538 disease phenotype-associated VAR_002538 phenoCommon Hemolytic anemia non-spherocytic due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] VAR_002539 commonName VAR_002539 VAR_002539 disease phenotype-associated VAR_002539 phenoCommon Epimerase-deficiency galactosemia (EDG) [MIM:230350] VAR_002540 commonName VAR_002540 VAR_002540 disease phenotype-associated VAR_002540 phenoCommon Epimerase-deficiency galactosemia (EDG) [MIM:230350] VAR_002541 commonName VAR_002541 VAR_002541 disease phenotype-associated VAR_002541 phenoCommon Epimerase-deficiency galactosemia (EDG) [MIM:230350] VAR_002542 commonName VAR_002542 VAR_002542 disease not phenotype-associated VAR_002543 commonName VAR_002543 VAR_002543 disease phenotype-associated VAR_002543 phenoCommon Epimerase-deficiency galactosemia (EDG) [MIM:230350] VAR_002544 commonName VAR_002544 VAR_002544 disease phenotype-associated VAR_002544 phenoCommon Epimerase-deficiency galactosemia (EDG) [MIM:230350] VAR_002547 commonName VAR_002547 VAR_002547 disease phenotype-associated VAR_002547 phenoCommon Galactosemia II (GALCT2) [MIM:230200] VAR_002548 commonName VAR_002548 VAR_002548 disease phenotype-associated VAR_002548 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002549 commonName VAR_002549 VAR_002549 disease phenotype-associated VAR_002549 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002550 commonName VAR_002550 VAR_002550 disease phenotype-associated VAR_002550 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002551 commonName VAR_002551 VAR_002551 disease phenotype-associated VAR_002551 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002552 commonName VAR_002552 VAR_002552 disease phenotype-associated VAR_002552 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002553 commonName VAR_002553 VAR_002553 disease phenotype-associated VAR_002553 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002554 commonName VAR_002554 VAR_002554 disease phenotype-associated VAR_002554 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002555 commonName VAR_002555 VAR_002555 disease not phenotype-associated VAR_002556 commonName VAR_002556 VAR_002556 disease phenotype-associated VAR_002556 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002557 commonName VAR_002557 VAR_002557 disease phenotype-associated VAR_002557 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002558 commonName VAR_002558 VAR_002558 disease phenotype-associated VAR_002558 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002559 commonName VAR_002559 VAR_002559 disease phenotype-associated VAR_002559 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002560 commonName VAR_002560 VAR_002560 disease phenotype-associated VAR_002560 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002561 commonName VAR_002561 VAR_002561 disease phenotype-associated VAR_002561 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002562 commonName VAR_002562 VAR_002562 disease phenotype-associated VAR_002562 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002563 commonName VAR_002563 VAR_002563 disease phenotype-associated VAR_002563 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002564 commonName VAR_002564 VAR_002564 disease phenotype-associated VAR_002564 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002565 commonName VAR_002565 VAR_002565 disease phenotype-associated VAR_002565 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002566 commonName VAR_002566 VAR_002566 disease phenotype-associated VAR_002566 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002567 commonName VAR_002567 VAR_002567 disease phenotype-associated VAR_002567 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002568 commonName VAR_002568 VAR_002568 disease phenotype-associated VAR_002568 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002569 commonName VAR_002569 VAR_002569 disease phenotype-associated VAR_002569 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002570 commonName VAR_002570 VAR_002570 disease phenotype-associated VAR_002570 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002571 commonName VAR_002571 VAR_002571 disease phenotype-associated VAR_002571 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002572 commonName VAR_002572 VAR_002572 disease phenotype-associated VAR_002572 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002573 commonName VAR_002573 VAR_002573 disease phenotype-associated VAR_002573 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002574 commonName VAR_002574 VAR_002574 disease phenotype-associated VAR_002574 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002575 commonName VAR_002575 VAR_002575 disease phenotype-associated VAR_002575 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002576 commonName VAR_002576 VAR_002576 disease phenotype-associated VAR_002576 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002577 commonName VAR_002577 VAR_002577 disease phenotype-associated VAR_002577 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002578 commonName VAR_002578 VAR_002578 disease phenotype-associated VAR_002578 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002579 commonName VAR_002579 VAR_002579 disease phenotype-associated VAR_002579 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002580 commonName VAR_002580 VAR_002580 disease phenotype-associated VAR_002580 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002581 commonName VAR_002581 VAR_002581 disease phenotype-associated VAR_002581 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002582 commonName VAR_002582 VAR_002582 disease phenotype-associated VAR_002582 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002583 commonName VAR_002583 VAR_002583 disease phenotype-associated VAR_002583 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002584 commonName VAR_002584 VAR_002584 disease phenotype-associated VAR_002584 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002585 commonName VAR_002585 VAR_002585 disease phenotype-associated VAR_002585 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002586 commonName VAR_002586 VAR_002586 disease phenotype-associated VAR_002586 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002587 commonName VAR_002587 VAR_002587 disease phenotype-associated VAR_002587 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002588 commonName VAR_002588 VAR_002588 disease phenotype-associated VAR_002588 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002589 commonName VAR_002589 VAR_002589 disease phenotype-associated VAR_002589 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002590 commonName VAR_002590 VAR_002590 disease phenotype-associated VAR_002590 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002591 commonName VAR_002591 VAR_002591 disease phenotype-associated VAR_002591 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002592 commonName VAR_002592 VAR_002592 disease phenotype-associated VAR_002592 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002593 commonName VAR_002593 VAR_002593 disease phenotype-associated VAR_002593 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002594 commonName VAR_002594 VAR_002594 disease phenotype-associated VAR_002594 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002595 commonName VAR_002595 VAR_002595 disease phenotype-associated VAR_002595 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002596 commonName VAR_002596 VAR_002596 disease phenotype-associated VAR_002596 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002597 commonName VAR_002597 VAR_002597 disease phenotype-associated VAR_002597 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002598 commonName VAR_002598 VAR_002598 disease phenotype-associated VAR_002598 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002599 commonName VAR_002599 VAR_002599 disease phenotype-associated VAR_002599 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002600 commonName VAR_002600 VAR_002600 disease phenotype-associated VAR_002600 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002601 commonName VAR_002601 VAR_002601 disease phenotype-associated VAR_002601 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002602 commonName VAR_002602 VAR_002602 disease phenotype-associated VAR_002602 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002603 commonName VAR_002603 VAR_002603 disease phenotype-associated VAR_002603 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002604 commonName VAR_002604 VAR_002604 disease phenotype-associated VAR_002604 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002605 commonName VAR_002605 VAR_002605 disease phenotype-associated VAR_002605 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002606 commonName VAR_002606 VAR_002606 disease phenotype-associated VAR_002606 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002607 commonName VAR_002607 VAR_002607 disease phenotype-associated VAR_002607 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002608 commonName VAR_002608 VAR_002608 disease phenotype-associated VAR_002608 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002609 commonName VAR_002609 VAR_002609 disease phenotype-associated VAR_002609 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002610 commonName VAR_002610 VAR_002610 disease phenotype-associated VAR_002610 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002611 commonName VAR_002611 VAR_002611 disease phenotype-associated VAR_002611 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002612 commonName VAR_002612 VAR_002612 disease phenotype-associated VAR_002612 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002613 commonName VAR_002613 VAR_002613 disease not phenotype-associated VAR_002614 commonName VAR_002614 VAR_002614 disease phenotype-associated VAR_002614 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002615 commonName VAR_002615 VAR_002615 disease phenotype-associated VAR_002615 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002616 commonName VAR_002616 VAR_002616 disease phenotype-associated VAR_002616 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002617 commonName VAR_002617 VAR_002617 disease phenotype-associated VAR_002617 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002618 commonName VAR_002618 VAR_002618 disease phenotype-associated VAR_002618 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002619 commonName VAR_002619 VAR_002619 disease phenotype-associated VAR_002619 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002620 commonName VAR_002620 VAR_002620 disease phenotype-associated VAR_002620 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002621 commonName VAR_002621 VAR_002621 disease phenotype-associated VAR_002621 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002622 commonName VAR_002622 VAR_002622 disease phenotype-associated VAR_002622 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002623 commonName VAR_002623 VAR_002623 disease phenotype-associated VAR_002623 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002624 commonName VAR_002624 VAR_002624 disease phenotype-associated VAR_002624 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002625 commonName VAR_002625 VAR_002625 disease phenotype-associated VAR_002625 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002626 commonName VAR_002626 VAR_002626 disease phenotype-associated VAR_002626 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002627 commonName VAR_002627 VAR_002627 disease phenotype-associated VAR_002627 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002628 commonName VAR_002628 VAR_002628 disease phenotype-associated VAR_002628 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002629 commonName VAR_002629 VAR_002629 disease phenotype-associated VAR_002629 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002630 commonName VAR_002630 VAR_002630 disease phenotype-associated VAR_002630 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002631 commonName VAR_002631 VAR_002631 disease phenotype-associated VAR_002631 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_002632 commonName VAR_002632 VAR_002633 commonName VAR_002633 VAR_002633 disease phenotype-associated VAR_002633 phenoCommon Dystonia type 5 (DYT5) [MIM:128230] VAR_002634 commonName VAR_002634 VAR_002634 disease phenotype-associated VAR_002634 phenoCommon Dystonia type 5 (DYT5) [MIM:128230] VAR_002635 commonName VAR_002635 VAR_002635 disease phenotype-associated VAR_002635 phenoCommon Dystonia type 5 (DYT5) [MIM:128230] VAR_002636 commonName VAR_002636 VAR_002636 disease phenotype-associated VAR_002636 phenoCommon Dystonia type 5 (DYT5) [MIM:128230] VAR_002637 commonName VAR_002637 VAR_002637 disease phenotype-associated VAR_002637 phenoCommon Dystonia type 5 (DYT5) [MIM:128230] VAR_002638 commonName VAR_002638 VAR_002638 disease phenotype-associated VAR_002638 phenoCommon Dystonia type 5 (DYT5) [MIM:128230] VAR_002639 commonName VAR_002639 VAR_002639 disease phenotype-associated VAR_002639 phenoCommon Dystonia type 5 (DYT5) [MIM:128230] VAR_002640 commonName VAR_002640 VAR_002640 disease phenotype-associated VAR_002640 phenoCommon Dystonia type 5 (DYT5) [MIM:128230] VAR_002641 commonName VAR_002641 VAR_002641 disease phenotype-associated VAR_002641 phenoCommon Dystonia type 5 (DYT5) [MIM:128230] VAR_002650 comment Basal cell carcinomas VAR_002650 commonName VAR_002650 VAR_002651 comment Basal cell carcinomas VAR_002651 commonName VAR_002651 VAR_002652 comment Basal cell carcinomas VAR_002652 commonName VAR_002652 VAR_002653 commonName VAR_002653 VAR_002653 disease phenotype-associated VAR_002653 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_002654 commonName VAR_002654 VAR_002654 disease phenotype-associated VAR_002654 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_002655 commonName VAR_002655 VAR_002655 disease phenotype-associated VAR_002655 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_002657 commonName VAR_002657 VAR_002657 disease phenotype-associated VAR_002657 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_002658 commonName VAR_002658 VAR_002658 disease phenotype-associated VAR_002658 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_002659 commonName VAR_002659 VAR_002659 disease phenotype-associated VAR_002659 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_002659 phenoCommon Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321] VAR_002660 commonName VAR_002660 VAR_002660 disease phenotype-associated VAR_002660 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_002662 commonName VAR_002662 VAR_002662 disease phenotype-associated VAR_002662 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_002663 commonName VAR_002663 VAR_002663 disease phenotype-associated VAR_002663 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_002664 commonName VAR_002664 VAR_002664 disease phenotype-associated VAR_002664 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_002665 commonName VAR_002665 VAR_002665 disease phenotype-associated VAR_002665 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_002667 commonName VAR_002667 VAR_002667 disease phenotype-associated VAR_002667 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_002668 commonName VAR_002668 VAR_002668 disease phenotype-associated VAR_002668 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] VAR_002669 commonName VAR_002669 VAR_002669 disease phenotype-associated VAR_002669 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] VAR_002670 commonName VAR_002670 VAR_002670 disease phenotype-associated VAR_002670 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] VAR_002671 commonName VAR_002671 VAR_002671 disease phenotype-associated VAR_002671 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] VAR_002672 commonName VAR_002672 VAR_002672 disease phenotype-associated VAR_002672 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] VAR_002673 commonName VAR_002673 VAR_002673 disease phenotype-associated VAR_002673 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] VAR_002674 commonName VAR_002674 VAR_002674 disease phenotype-associated VAR_002674 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] VAR_002675 commonName VAR_002675 VAR_002675 disease phenotype-associated VAR_002675 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] VAR_002676 commonName VAR_002676 VAR_002676 disease phenotype-associated VAR_002676 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] VAR_002677 commonName VAR_002677 VAR_002677 disease phenotype-associated VAR_002677 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] VAR_002678 commonName VAR_002678 VAR_002678 disease phenotype-associated VAR_002678 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] VAR_002679 commonName VAR_002679 VAR_002679 disease phenotype-associated VAR_002679 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] VAR_002680 commonName VAR_002680 VAR_002680 disease phenotype-associated VAR_002680 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] VAR_002681 commonName VAR_002681 VAR_002681 disease phenotype-associated VAR_002681 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] VAR_002682 commonName VAR_002682 VAR_002682 disease phenotype-associated VAR_002682 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] VAR_002683 commonName VAR_002683 VAR_002683 disease phenotype-associated VAR_002683 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] VAR_002684 commonName VAR_002684 VAR_002684 disease phenotype-associated VAR_002684 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] VAR_002685 commonName VAR_002685 VAR_002685 disease phenotype-associated VAR_002685 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] VAR_002686 commonName VAR_002686 VAR_002686 disease phenotype-associated VAR_002686 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] VAR_002687 commonName VAR_002687 VAR_002687 disease phenotype-associated VAR_002687 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] VAR_002688 commonName VAR_002688 VAR_002688 disease phenotype-associated VAR_002688 phenoCommon X-linked combined immunodeficiency (XCID) [MIM:312863] VAR_002689 commonName VAR_002689 VAR_002689 disease phenotype-associated VAR_002689 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] VAR_002690 commonName VAR_002690 VAR_002690 disease phenotype-associated VAR_002690 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] VAR_002691 commonName VAR_002691 VAR_002691 disease phenotype-associated VAR_002691 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] VAR_002692 commonName VAR_002692 VAR_002692 disease phenotype-associated VAR_002692 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] VAR_002693 commonName VAR_002693 VAR_002693 disease phenotype-associated VAR_002693 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] VAR_002694 commonName VAR_002694 VAR_002694 disease phenotype-associated VAR_002694 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] VAR_002695 commonName VAR_002695 VAR_002695 disease phenotype-associated VAR_002695 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] VAR_002697 commonName VAR_002697 VAR_002697 disease phenotype-associated VAR_002697 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] VAR_002698 commonName VAR_002698 VAR_002698 disease phenotype-associated VAR_002698 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] VAR_002699 commonName VAR_002699 VAR_002699 disease phenotype-associated VAR_002699 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] VAR_002701 commonName VAR_002701 VAR_002701 disease phenotype-associated VAR_002701 phenoCommon Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] VAR_002702 commonName VAR_002702 VAR_002702 disease phenotype-associated VAR_002702 phenoCommon X-linked combined immunodeficiency (XCID) [MIM:312863] VAR_002703 commonName VAR_002703 VAR_002703 disease not phenotype-associated VAR_002704 commonName VAR_002704 VAR_002704 disease not phenotype-associated VAR_002705 commonName VAR_002705 VAR_002705 disease not phenotype-associated VAR_002706 commonName VAR_002706 VAR_002706 disease not phenotype-associated VAR_002707 commonName VAR_002707 VAR_002707 disease not phenotype-associated VAR_002708 commonName VAR_002708 VAR_002708 disease phenotype-associated VAR_002708 phenoCommon Idiopathic short stature autosomal (ISSA) [MIM:604271] VAR_002709 commonName VAR_002709 VAR_002709 disease phenotype-associated VAR_002709 phenoCommon Laron syndrome (LARS) [MIM:262500] VAR_002710 commonName VAR_002710 VAR_002710 disease phenotype-associated VAR_002710 phenoCommon Laron syndrome (LARS) [MIM:262500] VAR_002711 commonName VAR_002711 VAR_002711 disease phenotype-associated VAR_002711 phenoCommon Laron syndrome (LARS) [MIM:262500] VAR_002712 commonName VAR_002712 VAR_002712 disease phenotype-associated VAR_002712 phenoCommon Laron syndrome (LARS) [MIM:262500] VAR_002713 commonName VAR_002713 VAR_002713 disease phenotype-associated VAR_002713 phenoCommon Laron syndrome (LARS) [MIM:262500] VAR_002714 commonName VAR_002714 VAR_002714 disease phenotype-associated VAR_002714 phenoCommon Idiopathic short stature autosomal (ISSA) [MIM:604271] VAR_002714 phenoCommon Laron syndrome (LARS) [MIM:262500] VAR_002715 commonName VAR_002715 VAR_002715 disease phenotype-associated VAR_002715 phenoCommon Laron syndrome (LARS) [MIM:262500] VAR_002716 commonName VAR_002716 VAR_002717 commonName VAR_002717 VAR_002717 disease not phenotype-associated VAR_002718 commonName VAR_002718 VAR_002718 disease not phenotype-associated VAR_002719 commonName VAR_002719 VAR_002720 commonName VAR_002720 VAR_002720 disease not phenotype-associated VAR_002721 commonName VAR_002721 VAR_002721 disease not phenotype-associated VAR_002722 commonName VAR_002722 VAR_002722 disease not phenotype-associated VAR_002723 commonName VAR_002723 VAR_002723 disease not phenotype-associated VAR_002724 commonName VAR_002724 VAR_002725 commonName VAR_002725 VAR_002725 disease not phenotype-associated VAR_002726 commonName VAR_002726 VAR_002727 commonName VAR_002727 VAR_002728 commonName VAR_002728 VAR_002728 disease not phenotype-associated VAR_002729 commonName VAR_002729 VAR_002730 commonName VAR_002730 VAR_002730 disease not phenotype-associated VAR_002731 commonName VAR_002731 VAR_002731 disease not phenotype-associated VAR_002732 commonName VAR_002732 VAR_002732 disease not phenotype-associated VAR_002733 commonName VAR_002733 HbVar.674 commonName Hb A2-Coburg VAR_002733 disease not phenotype-associated VAR_002734 commonName VAR_002734 VAR_002734 disease not phenotype-associated VAR_002735 commonName VAR_002735 VAR_002735 disease not phenotype-associated VAR_002736 commonName VAR_002736 VAR_002736 disease not phenotype-associated VAR_002737 commonName VAR_002737 VAR_002738 commonName VAR_002738 VAR_002738 disease not phenotype-associated VAR_002739 commonName VAR_002739 VAR_002739 disease not phenotype-associated VAR_002740 commonName VAR_002740 VAR_002740 disease not phenotype-associated VAR_002741 commonName VAR_002741 VAR_002741 disease not phenotype-associated VAR_002742 commonName VAR_002742 VAR_002742 disease not phenotype-associated VAR_002743 commonName VAR_002743 VAR_002743 disease not phenotype-associated VAR_002744 commonName VAR_002744 VAR_002744 disease not phenotype-associated VAR_002745 commonName VAR_002745 VAR_002746 commonName VAR_002746 VAR_002747 commonName VAR_002747 VAR_002748 commonName VAR_002748 VAR_002749 commonName VAR_002749 VAR_002750 commonName VAR_002750 VAR_002751 commonName VAR_002751 VAR_002752 commonName VAR_002752 VAR_002753 commonName VAR_002753 VAR_002754 commonName VAR_002754 VAR_002756 commonName VAR_002756 VAR_002757 commonName VAR_002757 VAR_002758 commonName VAR_002758 VAR_002759 commonName VAR_002759 VAR_002759 disease not phenotype-associated VAR_002760 commonName VAR_002760 VAR_002761 commonName VAR_002761 VAR_002762 commonName VAR_002762 VAR_002763 commonName VAR_002763 VAR_002764 commonName VAR_002764 VAR_002765 commonName VAR_002765 VAR_002766 commonName VAR_002766 VAR_002767 commonName VAR_002767 VAR_002768 commonName VAR_002768 VAR_002769 commonName VAR_002769 VAR_002770 commonName VAR_002770 VAR_002771 commonName VAR_002771 VAR_002772 commonName VAR_002772 VAR_002773 commonName VAR_002773 VAR_002774 commonName VAR_002774 VAR_002775 commonName VAR_002775 VAR_002776 commonName VAR_002776 VAR_002777 commonName VAR_002777 VAR_002778 commonName VAR_002778 VAR_002778 disease not phenotype-associated VAR_002779 commonName VAR_002779 VAR_002780 commonName VAR_002780 VAR_002780 disease not phenotype-associated VAR_002782 commonName VAR_002782 VAR_002783 commonName VAR_002783 VAR_002784 commonName VAR_002784 VAR_002785 commonName VAR_002785 VAR_002786 commonName VAR_002786 VAR_002787 commonName VAR_002787 VAR_002787 disease not phenotype-associated VAR_002788 commonName VAR_002788 VAR_002789 commonName VAR_002789 VAR_002790 commonName VAR_002790 VAR_002791 commonName VAR_002791 VAR_002792 commonName VAR_002792 VAR_002793 commonName VAR_002793 VAR_002794 commonName VAR_002794 VAR_002795 commonName VAR_002795 VAR_002796 commonName VAR_002796 VAR_002797 commonName VAR_002797 VAR_002798 commonName VAR_002798 VAR_002799 commonName VAR_002799 VAR_002800 commonName VAR_002800 VAR_002801 commonName VAR_002801 VAR_002802 commonName VAR_002802 VAR_002803 commonName VAR_002803 VAR_002804 commonName VAR_002804 VAR_002805 commonName VAR_002805 VAR_002806 commonName VAR_002806 VAR_002807 commonName VAR_002807 VAR_002808 commonName VAR_002808 VAR_002809 commonName VAR_002809 VAR_002810 commonName VAR_002810 VAR_002811 commonName VAR_002811 VAR_002812 commonName VAR_002812 VAR_002812 disease not phenotype-associated VAR_002813 commonName VAR_002813 VAR_002814 commonName VAR_002814 VAR_002815 commonName VAR_002815 VAR_002816 commonName VAR_002816 VAR_002817 commonName VAR_002817 VAR_002818 commonName VAR_002818 VAR_002819 commonName VAR_002819 VAR_002819 disease not phenotype-associated VAR_002820 commonName VAR_002820 VAR_002821 commonName VAR_002821 VAR_002822 commonName VAR_002822 VAR_002823 commonName VAR_002823 VAR_002824 commonName VAR_002824 VAR_002825 commonName VAR_002825 VAR_002826 commonName VAR_002826 VAR_002827 commonName VAR_002827 VAR_002828 commonName VAR_002828 VAR_002829 commonName VAR_002829 VAR_002833 commonName VAR_002833 VAR_002834 commonName VAR_002834 VAR_002835 commonName VAR_002835 VAR_002836 commonName VAR_002836 VAR_002837 commonName VAR_002837 VAR_002838 commonName VAR_002838 VAR_002839 commonName VAR_002839 VAR_002840 commonName VAR_002840 VAR_002841 commonName VAR_002841 VAR_002842 commonName VAR_002842 VAR_002843 commonName VAR_002843 VAR_002844 commonName VAR_002844 VAR_002845 commonName VAR_002845 VAR_002846 commonName VAR_002846 VAR_002847 commonName VAR_002847 VAR_002848 commonName VAR_002848 VAR_002849 commonName VAR_002849 VAR_002850 commonName VAR_002850 VAR_002851 commonName VAR_002851 VAR_002852 commonName VAR_002852 VAR_002853 commonName VAR_002853 VAR_002854 commonName VAR_002854 VAR_002855 commonName VAR_002855 VAR_002856 commonName VAR_002856 VAR_002856 disease not phenotype-associated VAR_002857 commonName VAR_002857 VAR_002857 disease not phenotype-associated VAR_002858 commonName VAR_002858 VAR_002858 disease not phenotype-associated VAR_002859 commonName VAR_002859 VAR_002859 disease not phenotype-associated VAR_002860 commonName VAR_002860 VAR_002860 disease not phenotype-associated VAR_002861 commonName VAR_002861 VAR_002861 disease not phenotype-associated VAR_002862 commonName VAR_002862 VAR_002863 commonName VAR_002863 VAR_002863 disease not phenotype-associated VAR_002864 commonName VAR_002864 VAR_002865 commonName VAR_002865 VAR_002865 disease not phenotype-associated VAR_002866 commonName VAR_002866 VAR_002866 disease not phenotype-associated VAR_002867 commonName VAR_002867 VAR_002867 disease not phenotype-associated VAR_002868 commonName VAR_002868 VAR_002868 disease not phenotype-associated VAR_002869 commonName VAR_002869 VAR_002869 disease not phenotype-associated VAR_002870 commonName VAR_002870 VAR_002871 commonName VAR_002871 VAR_002871 disease not phenotype-associated VAR_002872 commonName VAR_002872 VAR_002872 disease not phenotype-associated VAR_002873 commonName VAR_002873 VAR_002873 disease not phenotype-associated VAR_002874 commonName VAR_002874 VAR_002875 commonName VAR_002875 VAR_002875 disease not phenotype-associated VAR_002876 commonName VAR_002876 VAR_002877 commonName VAR_002877 VAR_002877 disease not phenotype-associated VAR_002878 commonName VAR_002878 VAR_002878 disease not phenotype-associated VAR_002879 commonName VAR_002879 VAR_002879 disease not phenotype-associated VAR_002880 commonName VAR_002880 VAR_002881 commonName VAR_002881 VAR_002882 commonName VAR_002882 VAR_002882 disease not phenotype-associated VAR_002883 commonName VAR_002883 VAR_002883 disease not phenotype-associated VAR_002884 commonName VAR_002884 VAR_002884 disease not phenotype-associated VAR_002885 commonName VAR_002885 VAR_002885 disease not phenotype-associated VAR_002886 commonName VAR_002886 VAR_002886 disease not phenotype-associated VAR_002887 commonName VAR_002887 VAR_002888 commonName VAR_002888 VAR_002888 disease not phenotype-associated VAR_002889 commonName VAR_002889 VAR_002889 disease not phenotype-associated VAR_002890 commonName VAR_002890 VAR_002890 disease not phenotype-associated VAR_002891 commonName VAR_002891 VAR_002892 commonName VAR_002892 VAR_002892 disease not phenotype-associated VAR_002893 commonName VAR_002893 VAR_002894 commonName VAR_002894 VAR_002894 disease not phenotype-associated VAR_002895 commonName VAR_002895 VAR_002896 commonName VAR_002896 VAR_002897 commonName VAR_002897 VAR_002898 commonName VAR_002898 VAR_002899 commonName VAR_002899 VAR_002900 commonName VAR_002900 VAR_002901 commonName VAR_002901 VAR_002902 commonName VAR_002902 VAR_002903 commonName VAR_002903 VAR_002904 commonName VAR_002904 VAR_002905 commonName VAR_002905 VAR_002906 commonName VAR_002906 VAR_002907 commonName VAR_002907 VAR_002908 commonName VAR_002908 VAR_002909 commonName VAR_002909 VAR_002910 commonName VAR_002910 VAR_002911 commonName VAR_002911 VAR_002912 commonName VAR_002912 VAR_002913 commonName VAR_002913 VAR_002914 commonName VAR_002914 VAR_002915 commonName VAR_002915 VAR_002916 commonName VAR_002916 VAR_002917 commonName VAR_002917 VAR_002918 commonName VAR_002918 VAR_002919 commonName VAR_002919 VAR_002920 commonName VAR_002920 VAR_002921 commonName VAR_002921 VAR_002922 commonName VAR_002922 VAR_002923 commonName VAR_002923 VAR_002924 commonName VAR_002924 VAR_002925 commonName VAR_002925 VAR_002926 commonName VAR_002926 VAR_002927 commonName VAR_002927 VAR_002928 commonName VAR_002928 VAR_002929 commonName VAR_002929 VAR_002930 commonName VAR_002930 VAR_002931 commonName VAR_002931 VAR_002932 commonName VAR_002932 VAR_002933 commonName VAR_002933 VAR_002934 commonName VAR_002934 VAR_002935 commonName VAR_002935 VAR_002936 commonName VAR_002936 VAR_002937 commonName VAR_002937 VAR_002938 commonName VAR_002938 VAR_002939 commonName VAR_002939 VAR_002940 commonName VAR_002940 VAR_002941 commonName VAR_002941 VAR_002942 commonName VAR_002942 VAR_002943 commonName VAR_002943 VAR_002944 commonName VAR_002944 VAR_002945 commonName VAR_002945 VAR_002946 commonName VAR_002946 VAR_002947 commonName VAR_002947 VAR_002948 commonName VAR_002948 VAR_002949 commonName VAR_002949 VAR_002950 commonName VAR_002950 VAR_002951 commonName VAR_002951 VAR_002952 commonName VAR_002952 VAR_002953 commonName VAR_002953 VAR_002954 commonName VAR_002954 VAR_002955 commonName VAR_002955 VAR_002956 commonName VAR_002956 VAR_002957 commonName VAR_002957 VAR_002958 commonName VAR_002958 VAR_002959 commonName VAR_002959 VAR_002960 commonName VAR_002960 VAR_002961 commonName VAR_002961 VAR_002962 commonName VAR_002962 VAR_002963 commonName VAR_002963 VAR_002964 commonName VAR_002964 VAR_002965 commonName VAR_002965 VAR_002966 commonName VAR_002966 VAR_002967 commonName VAR_002967 VAR_002968 commonName VAR_002968 VAR_002969 commonName VAR_002969 VAR_002970 commonName VAR_002970 VAR_002971 commonName VAR_002971 VAR_002972 commonName VAR_002972 VAR_002973 commonName VAR_002973 VAR_002974 commonName VAR_002974 VAR_002975 commonName VAR_002975 VAR_002976 commonName VAR_002976 VAR_002977 commonName VAR_002977 VAR_002978 commonName VAR_002978 VAR_002979 commonName VAR_002979 VAR_002980 commonName VAR_002980 VAR_002981 commonName VAR_002981 VAR_002982 commonName VAR_002982 VAR_002983 commonName VAR_002983 VAR_002984 commonName VAR_002984 VAR_002985 commonName VAR_002985 VAR_002986 commonName VAR_002986 VAR_002987 commonName VAR_002987 VAR_002988 commonName VAR_002988 VAR_002989 commonName VAR_002989 VAR_002990 commonName VAR_002990 VAR_002991 commonName VAR_002991 VAR_002992 commonName VAR_002992 VAR_002993 commonName VAR_002993 VAR_002994 commonName VAR_002994 VAR_002995 commonName VAR_002995 VAR_002996 commonName VAR_002996 VAR_002997 commonName VAR_002997 VAR_002998 commonName VAR_002998 VAR_002999 commonName VAR_002999 VAR_003000 commonName VAR_003000 VAR_003001 commonName VAR_003001 VAR_003002 commonName VAR_003002 VAR_003003 commonName VAR_003003 VAR_003004 commonName VAR_003004 VAR_003005 commonName VAR_003005 VAR_003006 commonName VAR_003006 VAR_003007 commonName VAR_003007 VAR_003008 commonName VAR_003008 VAR_003009 commonName VAR_003009 VAR_003010 commonName VAR_003010 VAR_003011 commonName VAR_003011 VAR_003012 commonName VAR_003012 VAR_003013 commonName VAR_003013 VAR_003014 commonName VAR_003014 VAR_003015 commonName VAR_003015 VAR_003016 commonName VAR_003016 VAR_003017 commonName VAR_003017 VAR_003018 commonName VAR_003018 VAR_003019 commonName VAR_003019 VAR_003020 commonName VAR_003020 VAR_003021 commonName VAR_003021 VAR_003022 commonName VAR_003022 VAR_003023 commonName VAR_003023 VAR_003024 commonName VAR_003024 VAR_003025 commonName VAR_003025 VAR_003026 commonName VAR_003026 VAR_003027 commonName VAR_003027 VAR_003028 commonName VAR_003028 VAR_003029 commonName VAR_003029 VAR_003030 commonName VAR_003030 VAR_003031 commonName VAR_003031 VAR_003032 commonName VAR_003032 VAR_003033 commonName VAR_003033 VAR_003034 commonName VAR_003034 VAR_003035 commonName VAR_003035 VAR_003036 commonName VAR_003036 VAR_003037 commonName VAR_003037 VAR_003038 commonName VAR_003038 VAR_003039 commonName VAR_003039 VAR_003040 commonName VAR_003040 VAR_003041 commonName VAR_003041 VAR_003042 commonName VAR_003042 VAR_003043 commonName VAR_003043 VAR_003044 commonName VAR_003044 VAR_003045 commonName VAR_003045 VAR_003046 commonName VAR_003046 VAR_003047 commonName VAR_003047 VAR_003048 commonName VAR_003048 VAR_003049 commonName VAR_003049 VAR_003050 commonName VAR_003050 VAR_003051 commonName VAR_003051 VAR_003052 commonName VAR_003052 VAR_003053 commonName VAR_003053 VAR_003054 commonName VAR_003054 VAR_003055 commonName VAR_003055 VAR_003056 commonName VAR_003056 VAR_003057 commonName VAR_003057 VAR_003058 commonName VAR_003058 VAR_003059 commonName VAR_003059 VAR_003060 commonName VAR_003060 VAR_003061 commonName VAR_003061 VAR_003062 commonName VAR_003062 VAR_003063 commonName VAR_003063 VAR_003064 commonName VAR_003064 VAR_003065 commonName VAR_003065 VAR_003066 commonName VAR_003066 VAR_003067 commonName VAR_003067 VAR_003068 commonName VAR_003068 VAR_003069 commonName VAR_003069 VAR_003070 commonName VAR_003070 VAR_003071 commonName VAR_003071 VAR_003072 commonName VAR_003072 VAR_003073 commonName VAR_003073 VAR_003074 commonName VAR_003074 VAR_003075 commonName VAR_003075 VAR_003076 commonName VAR_003076 VAR_003077 commonName VAR_003077 VAR_003078 commonName VAR_003078 VAR_003079 commonName VAR_003079 VAR_003080 commonName VAR_003080 VAR_003081 commonName VAR_003081 VAR_003082 commonName VAR_003082 VAR_003083 commonName VAR_003083 VAR_003084 commonName VAR_003084 VAR_003085 commonName VAR_003085 VAR_003086 commonName VAR_003086 VAR_003087 commonName VAR_003087 VAR_003088 commonName VAR_003088 VAR_003089 commonName VAR_003089 VAR_003090 commonName VAR_003090 VAR_003091 commonName VAR_003091 VAR_003092 commonName VAR_003092 VAR_003093 commonName VAR_003093 VAR_003094 commonName VAR_003094 VAR_003095 commonName VAR_003095 VAR_003096 commonName VAR_003096 VAR_003096 disease not phenotype-associated VAR_003097 commonName VAR_003097 VAR_003097 disease not phenotype-associated VAR_003098 commonName VAR_003098 VAR_003098 disease not phenotype-associated VAR_003099 commonName VAR_003099 VAR_003099 disease not phenotype-associated VAR_003100 commonName VAR_003100 VAR_003100 disease not phenotype-associated VAR_003101 commonName VAR_003101 VAR_003101 disease not phenotype-associated VAR_003102 commonName VAR_003102 VAR_003102 disease not phenotype-associated VAR_003103 commonName VAR_003103 VAR_003103 disease not phenotype-associated VAR_003104 commonName VAR_003104 VAR_003104 disease not phenotype-associated VAR_003105 commonName VAR_003105 VAR_003105 disease not phenotype-associated VAR_003106 commonName VAR_003106 VAR_003106 disease not phenotype-associated VAR_003107 commonName VAR_003107 VAR_003107 disease not phenotype-associated VAR_003108 commonName VAR_003108 VAR_003108 disease not phenotype-associated VAR_003109 commonName VAR_003109 VAR_003109 disease not phenotype-associated VAR_003110 commonName VAR_003110 VAR_003110 disease not phenotype-associated VAR_003111 commonName VAR_003111 VAR_003111 disease not phenotype-associated VAR_003112 commonName VAR_003112 VAR_003112 disease not phenotype-associated VAR_003113 commonName VAR_003113 VAR_003113 disease not phenotype-associated VAR_003114 commonName VAR_003114 VAR_003114 disease not phenotype-associated VAR_003115 commonName VAR_003115 VAR_003115 disease not phenotype-associated VAR_003116 commonName VAR_003116 VAR_003116 disease not phenotype-associated VAR_003117 commonName VAR_003117 VAR_003117 disease not phenotype-associated VAR_003118 commonName VAR_003118 VAR_003118 disease not phenotype-associated VAR_003119 commonName VAR_003119 VAR_003119 disease not phenotype-associated VAR_003120 commonName VAR_003120 VAR_003121 commonName VAR_003121 VAR_003122 commonName VAR_003122 VAR_003123 commonName VAR_003123 VAR_003124 commonName VAR_003124 VAR_003124 disease not phenotype-associated VAR_003125 commonName VAR_003125 VAR_003125 disease not phenotype-associated VAR_003126 commonName VAR_003126 VAR_003127 commonName VAR_003127 VAR_003127 disease not phenotype-associated VAR_003128 commonName VAR_003128 VAR_003128 disease not phenotype-associated VAR_003129 commonName VAR_003129 VAR_003130 commonName VAR_003130 VAR_003130 disease not phenotype-associated VAR_003131 commonName VAR_003131 VAR_003132 commonName VAR_003132 VAR_003133 commonName VAR_003133 VAR_003134 commonName VAR_003134 VAR_003135 commonName VAR_003135 VAR_003135 disease not phenotype-associated VAR_003136 commonName VAR_003136 VAR_003137 commonName VAR_003137 VAR_003138 commonName VAR_003138 VAR_003138 disease not phenotype-associated VAR_003139 commonName VAR_003139 VAR_003140 commonName VAR_003140 VAR_003141 commonName VAR_003141 VAR_003141 disease not phenotype-associated VAR_003142 commonName VAR_003142 VAR_003142 disease not phenotype-associated VAR_003143 commonName VAR_003143 VAR_003143 disease not phenotype-associated VAR_003144 commonName VAR_003144 VAR_003145 commonName VAR_003145 VAR_003145 disease not phenotype-associated VAR_003146 commonName VAR_003146 VAR_003146 disease phenotype-associated VAR_003146 phenoCommon Cyanosis transient neonatal (TNCY) [MIM:613977] VAR_003147 commonName VAR_003147 VAR_003147 disease not phenotype-associated VAR_003148 commonName VAR_003148 VAR_003149 commonName VAR_003149 VAR_003149 disease not phenotype-associated VAR_003150 commonName VAR_003150 VAR_003151 commonName VAR_003151 VAR_003152 commonName VAR_003152 VAR_003153 commonName VAR_003153 VAR_003153 disease not phenotype-associated VAR_003154 commonName VAR_003154 VAR_003154 disease phenotype-associated VAR_003154 phenoCommon Cyanosis transient neonatal (TNCY) [MIM:613977] VAR_003155 commonName VAR_003155 VAR_003156 commonName VAR_003156 VAR_003157 commonName VAR_003157 VAR_003158 commonName VAR_003158 VAR_003159 commonName VAR_003159 VAR_003160 commonName VAR_003160 VAR_003161 commonName VAR_003161 VAR_003161 disease not phenotype-associated VAR_003162 commonName VAR_003162 VAR_003163 commonName VAR_003163 VAR_003164 commonName VAR_003164 VAR_003165 commonName VAR_003165 VAR_003166 commonName VAR_003166 VAR_003166 disease phenotype-associated VAR_003166 phenoCommon Cyanosis transient neonatal (TNCY) [MIM:613977] VAR_003167 commonName VAR_003167 VAR_003168 commonName VAR_003168 VAR_003169 commonName VAR_003169 VAR_003170 commonName VAR_003170 VAR_003171 commonName VAR_003171 VAR_003172 commonName VAR_003172 VAR_003172 disease not phenotype-associated VAR_003173 commonName VAR_003173 VAR_003174 commonName VAR_003174 VAR_003175 commonName VAR_003175 VAR_003176 commonName VAR_003176 VAR_003177 commonName VAR_003177 VAR_003179 commonName VAR_003179 VAR_003179 disease not phenotype-associated VAR_003180 commonName VAR_003180 VAR_003180 disease not phenotype-associated VAR_003181 commonName VAR_003181 VAR_003181 disease not phenotype-associated VAR_003182 commonName VAR_003182 VAR_003182 disease not phenotype-associated VAR_003183 commonName VAR_003183 VAR_003183 disease not phenotype-associated VAR_003184 commonName VAR_003184 VAR_003184 disease phenotype-associated VAR_003184 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220] VAR_003185 commonName VAR_003185 VAR_003185 disease phenotype-associated VAR_003185 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220] VAR_003188 commonName VAR_003188 VAR_003188 disease not phenotype-associated VAR_003189 commonName VAR_003189 VAR_003189 disease phenotype-associated VAR_003189 phenoCommon Hypogonadism LHB-related (HGON-LHB) [MIM:152780] VAR_003192 commonName VAR_003192 VAR_003192 disease not phenotype-associated VAR_003193 commonName VAR_003193 VAR_003194 commonName VAR_003194 VAR_003195 commonName VAR_003195 VAR_003196 commonName VAR_003196 VAR_003196 disease phenotype-associated VAR_003196 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_003197 commonName VAR_003197 VAR_003197 disease phenotype-associated VAR_003197 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_003198 commonName VAR_003198 VAR_003198 disease phenotype-associated VAR_003198 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_003199 commonName VAR_003199 VAR_003199 disease phenotype-associated VAR_003199 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_003200 commonName VAR_003200 VAR_003200 disease phenotype-associated VAR_003200 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_003201 commonName VAR_003201 VAR_003201 disease phenotype-associated VAR_003201 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_003202 commonName VAR_003202 VAR_003202 disease phenotype-associated VAR_003202 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] VAR_003203 commonName VAR_003203 VAR_003203 disease phenotype-associated VAR_003203 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] VAR_003204 commonName VAR_003204 VAR_003204 disease phenotype-associated VAR_003204 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] VAR_003205 commonName VAR_003205 VAR_003205 disease phenotype-associated VAR_003205 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] VAR_003206 commonName VAR_003206 VAR_003206 disease phenotype-associated VAR_003206 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] VAR_003207 commonName VAR_003207 VAR_003207 disease phenotype-associated VAR_003207 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] VAR_003208 commonName VAR_003208 VAR_003208 disease phenotype-associated VAR_003208 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] VAR_003209 commonName VAR_003209 VAR_003209 disease phenotype-associated VAR_003209 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] VAR_003210 commonName VAR_003210 VAR_003210 disease phenotype-associated VAR_003210 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] VAR_003211 commonName VAR_003211 VAR_003211 disease phenotype-associated VAR_003211 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] VAR_003212 commonName VAR_003212 VAR_003212 disease phenotype-associated VAR_003212 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] VAR_003213 commonName VAR_003213 VAR_003213 disease phenotype-associated VAR_003213 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] VAR_003214 commonName VAR_003214 VAR_003214 disease phenotype-associated VAR_003214 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] VAR_003215 commonName VAR_003215 VAR_003215 disease phenotype-associated VAR_003215 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] VAR_003216 commonName VAR_003216 VAR_003216 disease phenotype-associated VAR_003216 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] VAR_003217 commonName VAR_003217 VAR_003217 disease phenotype-associated VAR_003217 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] VAR_003218 commonName VAR_003218 VAR_003218 disease phenotype-associated VAR_003218 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] VAR_003219 commonName VAR_003219 VAR_003220 commonName VAR_003220 VAR_003221 commonName VAR_003221 VAR_003221 disease phenotype-associated VAR_003221 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] VAR_003222 commonName VAR_003222 VAR_003222 disease phenotype-associated VAR_003222 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] VAR_003223 commonName VAR_003223 VAR_003223 disease phenotype-associated VAR_003223 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] VAR_003224 commonName VAR_003224 VAR_003224 disease phenotype-associated VAR_003224 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] VAR_003225 commonName VAR_003225 VAR_003225 disease phenotype-associated VAR_003225 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] VAR_003226 commonName VAR_003226 VAR_003226 disease phenotype-associated VAR_003226 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] VAR_003227 commonName VAR_003227 VAR_003227 disease phenotype-associated VAR_003227 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] VAR_003230 commonName VAR_003230 VAR_003230 disease phenotype-associated VAR_003230 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] VAR_003247 commonName VAR_003247 VAR_003247 disease phenotype-associated VAR_003247 phenoCommon GM2-gangliosidosis type 2 (GM2G2) [MIM:268800] VAR_003248 commonName VAR_003248 VAR_003248 disease not phenotype-associated VAR_003249 commonName VAR_003249 VAR_003249 disease not phenotype-associated VAR_003250 commonName VAR_003250 VAR_003250 disease phenotype-associated VAR_003250 phenoCommon GM2-gangliosidosis type 2 (GM2G2) [MIM:268800] VAR_003255 commonName VAR_003255 VAR_003255 disease phenotype-associated VAR_003255 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003256 commonName VAR_003256 VAR_003256 disease phenotype-associated VAR_003256 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003257 commonName VAR_003257 VAR_003257 disease phenotype-associated VAR_003257 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003258 commonName VAR_003258 VAR_003258 disease phenotype-associated VAR_003258 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003259 commonName VAR_003259 VAR_003259 disease phenotype-associated VAR_003259 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003260 commonName VAR_003260 VAR_003260 disease phenotype-associated VAR_003260 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003261 commonName VAR_003261 VAR_003261 disease phenotype-associated VAR_003261 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003262 commonName VAR_003262 VAR_003262 disease phenotype-associated VAR_003262 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003263 commonName VAR_003263 VAR_003263 disease phenotype-associated VAR_003263 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003264 commonName VAR_003264 VAR_003264 disease phenotype-associated VAR_003264 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003265 commonName VAR_003265 VAR_003265 disease phenotype-associated VAR_003265 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003266 commonName VAR_003266 VAR_003266 disease phenotype-associated VAR_003266 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003267 commonName VAR_003267 VAR_003267 disease phenotype-associated VAR_003267 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003268 commonName VAR_003268 VAR_003268 disease phenotype-associated VAR_003268 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003269 commonName VAR_003269 VAR_003269 disease phenotype-associated VAR_003269 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003270 commonName VAR_003270 VAR_003270 disease phenotype-associated VAR_003270 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003271 commonName VAR_003271 VAR_003271 disease phenotype-associated VAR_003271 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003272 commonName VAR_003272 VAR_003272 disease phenotype-associated VAR_003272 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003273 commonName VAR_003273 VAR_003273 disease phenotype-associated VAR_003273 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003274 commonName VAR_003274 VAR_003274 disease phenotype-associated VAR_003274 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003275 commonName VAR_003275 VAR_003275 disease phenotype-associated VAR_003275 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003276 commonName VAR_003276 VAR_003276 disease phenotype-associated VAR_003276 phenoCommon Gaucher disease type 1 (GD1) [MIM:230800] VAR_003277 commonName VAR_003277 VAR_003277 disease phenotype-associated VAR_003277 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003278 commonName VAR_003278 VAR_003278 disease phenotype-associated VAR_003278 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003279 commonName VAR_003279 VAR_003279 disease phenotype-associated VAR_003279 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003280 commonName VAR_003280 VAR_003280 disease phenotype-associated VAR_003280 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003281 commonName VAR_003281 VAR_003281 disease phenotype-associated VAR_003281 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003282 commonName VAR_003282 VAR_003282 disease phenotype-associated VAR_003282 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003283 commonName VAR_003283 VAR_003283 disease phenotype-associated VAR_003283 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003284 commonName VAR_003284 VAR_003284 disease phenotype-associated VAR_003284 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003285 commonName VAR_003285 VAR_003285 disease phenotype-associated VAR_003285 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003286 commonName VAR_003286 VAR_003286 disease phenotype-associated VAR_003286 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003287 commonName VAR_003287 VAR_003287 disease phenotype-associated VAR_003287 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003288 commonName VAR_003288 VAR_003288 disease phenotype-associated VAR_003288 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003289 commonName VAR_003289 VAR_003289 disease phenotype-associated VAR_003289 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003290 commonName VAR_003290 VAR_003290 disease phenotype-associated VAR_003290 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003291 commonName VAR_003291 VAR_003291 disease phenotype-associated VAR_003291 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003292 commonName VAR_003292 VAR_003292 disease phenotype-associated VAR_003292 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003293 commonName VAR_003293 VAR_003293 disease phenotype-associated VAR_003293 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003294 commonName VAR_003294 VAR_003294 disease phenotype-associated VAR_003294 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003295 commonName VAR_003295 VAR_003295 disease phenotype-associated VAR_003295 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003296 commonName VAR_003296 VAR_003296 disease phenotype-associated VAR_003296 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003297 commonName VAR_003297 VAR_003297 disease phenotype-associated VAR_003297 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003298 commonName VAR_003298 VAR_003298 disease phenotype-associated VAR_003298 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003299 commonName VAR_003299 VAR_003299 disease phenotype-associated VAR_003299 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003300 commonName VAR_003300 VAR_003300 disease phenotype-associated VAR_003300 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003301 commonName VAR_003301 VAR_003301 disease phenotype-associated VAR_003301 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003302 commonName VAR_003302 VAR_003302 disease phenotype-associated VAR_003302 phenoCommon Gaucher disease type 1 (GD1) [MIM:230800] VAR_003303 commonName VAR_003303 VAR_003303 disease phenotype-associated VAR_003303 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003304 commonName VAR_003304 VAR_003304 disease phenotype-associated VAR_003304 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003305 commonName VAR_003305 VAR_003305 disease phenotype-associated VAR_003305 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003306 commonName VAR_003306 VAR_003306 disease phenotype-associated VAR_003306 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003307 commonName VAR_003307 VAR_003307 disease phenotype-associated VAR_003307 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003308 commonName VAR_003308 VAR_003308 disease phenotype-associated VAR_003308 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003309 commonName VAR_003309 VAR_003309 disease phenotype-associated VAR_003309 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003310 commonName VAR_003310 VAR_003310 disease phenotype-associated VAR_003310 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003311 commonName VAR_003311 VAR_003311 disease phenotype-associated VAR_003311 phenoCommon Gaucher disease type 1 (GD1) [MIM:230800] VAR_003312 commonName VAR_003312 VAR_003312 disease phenotype-associated VAR_003312 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003313 commonName VAR_003313 VAR_003313 disease phenotype-associated VAR_003313 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003314 commonName VAR_003314 VAR_003314 disease phenotype-associated VAR_003314 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_003329 commonName VAR_003329 VAR_003329 disease phenotype-associated VAR_003329 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_003330 commonName VAR_003330 VAR_003330 disease phenotype-associated VAR_003330 phenoCommon GM1-gangliosidosis type 3 (GM1G3) [MIM:230650] VAR_003331 commonName VAR_003331 VAR_003331 disease phenotype-associated VAR_003331 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_003332 commonName VAR_003332 VAR_003332 disease phenotype-associated VAR_003332 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_003332 phenoCommon GM1-gangliosidosis type 2 (GM1G2) [MIM:230600] VAR_003333 commonName VAR_003333 VAR_003333 disease phenotype-associated VAR_003333 phenoCommon Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010] VAR_003334 commonName VAR_003334 VAR_003334 disease phenotype-associated VAR_003334 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_003335 commonName VAR_003335 VAR_003335 disease phenotype-associated VAR_003335 phenoCommon GM1-gangliosidosis type 3 (GM1G3) [MIM:230650] VAR_003336 commonName VAR_003336 VAR_003336 disease phenotype-associated VAR_003336 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_003336 phenoCommon Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010] VAR_003337 commonName VAR_003337 VAR_003337 disease phenotype-associated VAR_003337 phenoCommon Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010] VAR_003338 commonName VAR_003338 VAR_003338 disease phenotype-associated VAR_003338 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_003339 commonName VAR_003339 VAR_003339 disease not phenotype-associated VAR_003340 commonName VAR_003340 VAR_003340 disease not phenotype-associated VAR_003341 commonName VAR_003341 VAR_003341 disease not phenotype-associated VAR_003342 commonName VAR_003342 VAR_003342 disease phenotype-associated VAR_003342 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_003343 commonName VAR_003343 VAR_003343 disease phenotype-associated VAR_003343 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_003344 commonName VAR_003344 VAR_003345 commonName VAR_003345 VAR_003345 disease not phenotype-associated VAR_003346 commonName VAR_003346 VAR_003346 disease phenotype-associated VAR_003346 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_003347 commonName VAR_003347 VAR_003347 disease phenotype-associated VAR_003347 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_003348 commonName VAR_003348 VAR_003348 disease phenotype-associated VAR_003348 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_003350 commonName VAR_003350 VAR_003350 disease not phenotype-associated VAR_003351 commonName VAR_003351 VAR_003351 disease phenotype-associated VAR_003351 phenoCommon Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014] VAR_003352 commonName VAR_003352 VAR_003352 disease phenotype-associated VAR_003352 phenoCommon Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014] VAR_003353 commonName VAR_003353 VAR_003353 disease phenotype-associated VAR_003353 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] VAR_003354 commonName VAR_003354 VAR_003354 disease phenotype-associated VAR_003354 phenoCommon Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016] VAR_003355 commonName VAR_003355 VAR_003355 disease phenotype-associated VAR_003355 phenoCommon Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016] VAR_003356 commonName VAR_003356 VAR_003356 disease not phenotype-associated VAR_003357 commonName VAR_003357 VAR_003357 disease not phenotype-associated VAR_003358 commonName VAR_003358 VAR_003358 disease phenotype-associated VAR_003358 phenoCommon Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014] VAR_003359 commonName VAR_003359 VAR_003359 disease not phenotype-associated VAR_003360 commonName VAR_003360 VAR_003361 commonName VAR_003361 VAR_003361 disease phenotype-associated VAR_003361 phenoCommon Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014] VAR_003361 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] VAR_003362 commonName VAR_003362 VAR_003362 disease phenotype-associated VAR_003362 phenoCommon Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014] VAR_003364 commonName VAR_003364 VAR_003364 disease not phenotype-associated VAR_003365 commonName VAR_003365 VAR_003365 disease phenotype-associated VAR_003365 phenoCommon Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014] VAR_003366 commonName VAR_003366 VAR_003366 disease phenotype-associated VAR_003366 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] VAR_003367 commonName VAR_003367 VAR_003367 disease phenotype-associated VAR_003367 phenoCommon Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016] VAR_003368 commonName VAR_003368 VAR_003368 disease phenotype-associated VAR_003368 phenoCommon Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014] VAR_003370 commonName VAR_003370 VAR_003370 disease phenotype-associated VAR_003370 phenoCommon Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014] VAR_003372 commonName VAR_003372 VAR_003372 disease not phenotype-associated VAR_003373 commonName VAR_003373 VAR_003373 disease phenotype-associated VAR_003373 phenoCommon Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014] VAR_003374 commonName VAR_003374 VAR_003374 disease phenotype-associated VAR_003374 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] VAR_003374 phenoCommon Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016] VAR_003375 commonName VAR_003375 VAR_003375 disease phenotype-associated VAR_003375 phenoCommon Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016] VAR_003376 commonName VAR_003376 VAR_003376 disease phenotype-associated VAR_003376 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] VAR_003377 commonName VAR_003377 VAR_003377 disease phenotype-associated VAR_003377 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] VAR_003378 commonName VAR_003378 VAR_003378 disease phenotype-associated VAR_003378 phenoCommon Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014] VAR_003378 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] VAR_003379 commonName VAR_003379 VAR_003379 disease phenotype-associated VAR_003379 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] VAR_003380 commonName VAR_003380 VAR_003380 disease phenotype-associated VAR_003380 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200] VAR_003381 commonName VAR_003381 VAR_003381 disease phenotype-associated VAR_003381 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200] VAR_003382 commonName VAR_003382 VAR_003382 disease phenotype-associated VAR_003382 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200] VAR_003383 commonName VAR_003383 VAR_003383 disease phenotype-associated VAR_003383 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200] VAR_003384 commonName VAR_003384 VAR_003384 disease phenotype-associated VAR_003384 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200] VAR_003385 commonName VAR_003385 VAR_003385 disease phenotype-associated VAR_003385 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200] VAR_003386 commonName VAR_003386 VAR_003386 disease not phenotype-associated VAR_003387 commonName VAR_003387 VAR_003387 disease phenotype-associated VAR_003387 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200] VAR_003388 commonName VAR_003388 VAR_003388 disease phenotype-associated VAR_003388 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200] VAR_003389 commonName VAR_003389 VAR_003389 disease phenotype-associated VAR_003389 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200] VAR_003390 commonName VAR_003390 VAR_003390 disease phenotype-associated VAR_003390 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200] VAR_003391 commonName VAR_003391 VAR_003391 disease phenotype-associated VAR_003391 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200] VAR_003392 commonName VAR_003392 VAR_003392 disease phenotype-associated VAR_003392 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200] VAR_003393 commonName VAR_003393 VAR_003393 disease phenotype-associated VAR_003393 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200] VAR_003394 commonName VAR_003394 VAR_003394 disease phenotype-associated VAR_003394 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200] VAR_003395 commonName VAR_003395 VAR_003395 disease phenotype-associated VAR_003395 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200] VAR_003409 commonName VAR_003409 VAR_003409 disease not phenotype-associated VAR_003410 commonName VAR_003410 VAR_003410 disease not phenotype-associated VAR_003415 commonName VAR_003415 VAR_003415 disease phenotype-associated VAR_003415 phenoCommon Congenital disorder of glycosylation type 2A (CDG2A) [MIM:212066] VAR_003416 commonName VAR_003416 VAR_003416 disease phenotype-associated VAR_003416 phenoCommon Congenital disorder of glycosylation type 2A (CDG2A) [MIM:212066] VAR_003417 commonName VAR_003417 VAR_003418 commonName VAR_003418 VAR_003419 commonName VAR_003419 VAR_003420 commonName VAR_003420 VAR_003421 commonName VAR_003421 VAR_003422 commonName VAR_003422 VAR_003422 disease not phenotype-associated VAR_003423 commonName VAR_003423 VAR_003423 disease not phenotype-associated VAR_003424 commonName VAR_003424 VAR_003424 disease not phenotype-associated VAR_003425 commonName VAR_003425 VAR_003425 disease not phenotype-associated VAR_003426 commonName VAR_003426 VAR_003426 disease not phenotype-associated VAR_003427 commonName VAR_003427 VAR_003427 disease not phenotype-associated VAR_003428 commonName VAR_003428 VAR_003428 disease not phenotype-associated VAR_003429 commonName VAR_003429 VAR_003430 commonName VAR_003430 VAR_003430 disease not phenotype-associated VAR_003431 commonName VAR_003431 VAR_003431 disease phenotype-associated VAR_003431 phenoCommon Glycogen storage disease type 5 (GSD5) [MIM:232600] VAR_003432 commonName VAR_003432 VAR_003432 disease phenotype-associated VAR_003432 phenoCommon Glycogen storage disease type 5 (GSD5) [MIM:232600] VAR_003433 commonName VAR_003433 VAR_003433 disease phenotype-associated VAR_003433 phenoCommon Glycogen storage disease type 5 (GSD5) [MIM:232600] VAR_003434 commonName VAR_003434 VAR_003434 disease phenotype-associated VAR_003434 phenoCommon Glycogen storage disease type 5 (GSD5) [MIM:232600] VAR_003435 commonName VAR_003435 VAR_003435 disease phenotype-associated VAR_003435 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000] VAR_003436 commonName VAR_003436 VAR_003436 disease phenotype-associated VAR_003436 phenoCommon Cone-rod dystrophy type 6 (CORD6) [MIM:601777] VAR_003437 commonName VAR_003437 VAR_003437 disease phenotype-associated VAR_003437 phenoCommon Cone-rod dystrophy type 6 (CORD6) [MIM:601777] VAR_003439 commonName VAR_003439 VAR_003439 disease phenotype-associated VAR_003439 phenoCommon Albright hereditary osteodystrophy (AHO) [MIM:103580] VAR_003440 commonName VAR_003440 VAR_003440 disease phenotype-associated VAR_003440 phenoCommon Albright hereditary osteodystrophy (AHO) [MIM:103580] VAR_003441 commonName VAR_003441 VAR_003441 disease phenotype-associated VAR_003441 phenoCommon ACTH-independent macronodular adrenal hyperplasia (AIMAH) [MIM:219080] VAR_003441 phenoCommon McCune-Albright syndrome (MAS) [MIM:174800] VAR_003442 commonName VAR_003442 VAR_003442 disease phenotype-associated VAR_003442 phenoCommon McCune-Albright syndrome (MAS) [MIM:174800] VAR_003443 commonName VAR_003443 VAR_003446 commonName VAR_003446 VAR_003446 disease not phenotype-associated VAR_003448 commonName VAR_003448 VAR_003448 disease not phenotype-associated VAR_003449 commonName VAR_003449 VAR_003449 disease not phenotype-associated VAR_003450 commonName VAR_003450 VAR_003450 disease not phenotype-associated VAR_003452 commonName VAR_003452 VAR_003452 disease not phenotype-associated VAR_003453 commonName VAR_003453 VAR_003453 disease not phenotype-associated VAR_003454 commonName VAR_003454 VAR_003454 disease not phenotype-associated VAR_003455 commonName VAR_003455 VAR_003455 disease not phenotype-associated VAR_003456 commonName VAR_003456 VAR_003456 disease not phenotype-associated VAR_003457 commonName VAR_003457 VAR_003457 disease not phenotype-associated VAR_003458 commonName VAR_003458 VAR_003458 disease not phenotype-associated VAR_003459 commonName VAR_003459 VAR_003459 disease not phenotype-associated VAR_003460 commonName VAR_003460 VAR_003460 disease not phenotype-associated VAR_003461 commonName VAR_003461 VAR_003461 disease not phenotype-associated VAR_003463 commonName VAR_003463 VAR_003463 disease not phenotype-associated VAR_003464 commonName VAR_003464 VAR_003464 disease not phenotype-associated VAR_003467 commonName VAR_003467 VAR_003467 disease not phenotype-associated VAR_003468 commonName VAR_003468 VAR_003468 disease not phenotype-associated VAR_003469 commonName VAR_003469 VAR_003469 disease not phenotype-associated VAR_003470 commonName VAR_003470 VAR_003470 disease phenotype-associated VAR_003470 phenoCommon Waardenburg syndrome type 4A (WS4A) [MIM:277580] VAR_003471 commonName VAR_003471 VAR_003471 disease phenotype-associated VAR_003471 phenoCommon Hirschsprung disease type 2 (HSCR2) [MIM:600155] VAR_003472 commonName VAR_003472 VAR_003472 disease phenotype-associated VAR_003472 phenoCommon Hirschsprung disease type 2 (HSCR2) [MIM:600155] VAR_003473 commonName VAR_003473 VAR_003473 disease phenotype-associated VAR_003473 phenoCommon Hirschsprung disease type 2 (HSCR2) [MIM:600155] VAR_003474 commonName VAR_003474 VAR_003474 disease phenotype-associated VAR_003474 phenoCommon Hirschsprung disease type 2 (HSCR2) [MIM:600155] VAR_003475 commonName VAR_003475 VAR_003475 disease phenotype-associated VAR_003475 phenoCommon Hirschsprung disease type 2 (HSCR2) [MIM:600155] VAR_003476 commonName VAR_003476 VAR_003476 disease not phenotype-associated VAR_003477 commonName VAR_003477 VAR_003477 disease not phenotype-associated VAR_003478 commonName VAR_003478 VAR_003478 disease not phenotype-associated VAR_003479 commonName VAR_003479 VAR_003479 disease not phenotype-associated VAR_003480 commonName VAR_003480 VAR_003480 disease not phenotype-associated VAR_003481 commonName VAR_003481 VAR_003482 commonName VAR_003482 VAR_003482 disease not phenotype-associated VAR_003483 commonName VAR_003483 VAR_003484 commonName VAR_003484 VAR_003485 commonName VAR_003485 VAR_003486 commonName VAR_003486 VAR_003487 commonName VAR_003487 VAR_003488 commonName VAR_003488 VAR_003489 commonName VAR_003489 VAR_003490 commonName VAR_003490 VAR_003491 commonName VAR_003491 VAR_003492 commonName VAR_003492 VAR_003493 commonName VAR_003493 VAR_003494 commonName VAR_003494 VAR_003495 commonName VAR_003495 VAR_003496 commonName VAR_003496 VAR_003497 commonName VAR_003497 VAR_003498 commonName VAR_003498 VAR_003499 commonName VAR_003499 VAR_003500 commonName VAR_003500 VAR_003501 commonName VAR_003501 VAR_003502 commonName VAR_003502 VAR_003503 commonName VAR_003503 VAR_003503 disease not phenotype-associated VAR_003504 commonName VAR_003504 VAR_003504 disease not phenotype-associated VAR_003505 commonName VAR_003505 VAR_003506 commonName VAR_003506 VAR_003507 commonName VAR_003507 VAR_003507 disease not phenotype-associated VAR_003508 commonName VAR_003508 VAR_003508 disease not phenotype-associated VAR_003509 commonName VAR_003509 VAR_003509 disease not phenotype-associated VAR_003510 commonName VAR_003510 VAR_003510 disease phenotype-associated VAR_003510 phenoCommon Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200] VAR_003511 commonName VAR_003511 VAR_003511 disease phenotype-associated VAR_003511 phenoCommon Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200] VAR_003512 commonName VAR_003512 VAR_003512 disease phenotype-associated VAR_003512 phenoCommon Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200] VAR_003513 commonName VAR_003513 VAR_003513 disease phenotype-associated VAR_003513 phenoCommon Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200] VAR_003514 commonName VAR_003514 VAR_003514 disease not phenotype-associated VAR_003515 commonName VAR_003515 VAR_003515 disease phenotype-associated VAR_003515 phenoCommon Bleeding disorder platelet-type 13 (BDPLT13) [MIM:614009] VAR_003516 commonName VAR_003516 VAR_003516 disease not phenotype-associated VAR_003517 commonName VAR_003517 VAR_003517 disease phenotype-associated VAR_003517 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_003519 commonName VAR_003519 VAR_003519 disease not phenotype-associated VAR_003520 commonName VAR_003520 VAR_003520 disease phenotype-associated VAR_003520 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_003521 commonName VAR_003521 VAR_003521 disease phenotype-associated VAR_003521 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_003522 commonName VAR_003522 VAR_003522 disease phenotype-associated VAR_003522 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_003523 commonName VAR_003523 VAR_003523 disease phenotype-associated VAR_003523 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_003524 commonName VAR_003524 VAR_003524 disease phenotype-associated VAR_003524 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_003525 commonName VAR_003525 VAR_003525 disease phenotype-associated VAR_003525 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_003526 commonName VAR_003526 VAR_003526 disease phenotype-associated VAR_003526 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_003527 commonName VAR_003527 VAR_003527 disease phenotype-associated VAR_003527 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_003528 commonName VAR_003528 VAR_003528 disease phenotype-associated VAR_003528 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_003529 commonName VAR_003529 VAR_003529 disease phenotype-associated VAR_003529 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_003530 commonName VAR_003530 VAR_003530 disease not phenotype-associated VAR_003531 commonName VAR_003531 VAR_003531 disease phenotype-associated VAR_003531 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_003532 commonName VAR_003532 VAR_003532 disease phenotype-associated VAR_003532 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_003533 commonName VAR_003533 VAR_003533 disease phenotype-associated VAR_003533 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_003534 commonName VAR_003534 VAR_003534 disease phenotype-associated VAR_003534 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_003535 commonName VAR_003535 VAR_003535 disease phenotype-associated VAR_003535 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_003536 commonName VAR_003536 VAR_003536 disease phenotype-associated VAR_003536 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_003537 commonName VAR_003537 VAR_003537 disease phenotype-associated VAR_003537 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_003538 commonName VAR_003538 VAR_003538 disease phenotype-associated VAR_003538 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_003541 commonName VAR_003541 VAR_003541 disease phenotype-associated VAR_003541 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_003542 commonName VAR_003542 VAR_003543 commonName VAR_003543 VAR_003543 disease phenotype-associated VAR_003543 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_003544 commonName VAR_003544 VAR_003544 disease phenotype-associated VAR_003544 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_003545 commonName VAR_003545 VAR_003545 disease phenotype-associated VAR_003545 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_003546 commonName VAR_003546 VAR_003546 disease phenotype-associated VAR_003546 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_003547 commonName VAR_003547 VAR_003547 disease phenotype-associated VAR_003547 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_003548 commonName VAR_003548 VAR_003548 disease phenotype-associated VAR_003548 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_003550 commonName VAR_003550 VAR_003550 disease not phenotype-associated VAR_003551 commonName VAR_003551 VAR_003551 disease not phenotype-associated VAR_003552 commonName VAR_003552 VAR_003552 disease phenotype-associated VAR_003552 phenoCommon Luteinizing hormone resistance (LHR) [MIM:238320] VAR_003553 commonName VAR_003553 VAR_003553 disease phenotype-associated VAR_003553 phenoCommon Familial male precocious puberty (FMPP) [MIM:176410] VAR_003554 commonName VAR_003554 VAR_003554 disease phenotype-associated VAR_003554 phenoCommon Familial male precocious puberty (FMPP) [MIM:176410] VAR_003555 commonName VAR_003555 VAR_003555 disease phenotype-associated VAR_003555 phenoCommon Familial male precocious puberty (FMPP) [MIM:176410] VAR_003556 commonName VAR_003556 VAR_003556 disease phenotype-associated VAR_003556 phenoCommon Familial male precocious puberty (FMPP) [MIM:176410] VAR_003557 commonName VAR_003557 VAR_003557 disease phenotype-associated VAR_003557 phenoCommon Familial male precocious puberty (FMPP) [MIM:176410] VAR_003558 commonName VAR_003558 VAR_003558 disease phenotype-associated VAR_003558 phenoCommon Familial male precocious puberty (FMPP) [MIM:176410] VAR_003559 commonName VAR_003559 VAR_003559 disease phenotype-associated VAR_003559 phenoCommon Familial male precocious puberty (FMPP) [MIM:176410] VAR_003560 commonName VAR_003560 VAR_003560 disease phenotype-associated VAR_003560 phenoCommon Luteinizing hormone resistance (LHR) [MIM:238320] VAR_003562 commonName VAR_003562 VAR_003562 disease phenotype-associated VAR_003562 phenoCommon Luteinizing hormone resistance (LHR) [MIM:238320] VAR_003563 commonName VAR_003563 VAR_003563 disease phenotype-associated VAR_003563 phenoCommon Luteinizing hormone resistance (LHR) [MIM:238320] VAR_003564 commonName VAR_003564 VAR_003565 commonName VAR_003565 VAR_003565 disease not phenotype-associated VAR_003566 commonName VAR_003566 VAR_003566 disease phenotype-associated VAR_003566 phenoCommon Familial gestational hyperthyroidism (HTFG) [MIM:603373] VAR_003567 comment Papillary cancer VAR_003567 commonName VAR_003567 VAR_003568 comment Papillary cancer VAR_003568 commonName VAR_003568 VAR_003569 commonName VAR_003569 VAR_003570 commonName VAR_003570 VAR_003570 disease phenotype-associated VAR_003570 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] VAR_003571 commonName VAR_003571 VAR_003571 disease phenotype-associated VAR_003571 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] VAR_003572 commonName VAR_003572 VAR_003572 disease not phenotype-associated VAR_003573 commonName VAR_003573 VAR_003574 commonName VAR_003574 VAR_003575 commonName VAR_003575 VAR_003575 disease phenotype-associated VAR_003575 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] VAR_003576 comment Papillary cancer VAR_003576 commonName VAR_003576 VAR_003577 comment Papillary cancer VAR_003577 commonName VAR_003577 VAR_003578 commonName VAR_003578 VAR_003578 disease not phenotype-associated VAR_003579 commonName VAR_003579 VAR_003579 disease not phenotype-associated VAR_003581 commonName VAR_003581 VAR_003581 disease not phenotype-associated VAR_003582 commonName VAR_003582 VAR_003582 disease phenotype-associated VAR_003582 phenoCommon Jansen metaphyseal chondrodysplasia (JMC) [MIM:156400] VAR_003583 commonName VAR_003583 VAR_003583 disease phenotype-associated VAR_003583 phenoCommon Jansen metaphyseal chondrodysplasia (JMC) [MIM:156400] VAR_003584 commonName VAR_003584 VAR_003584 disease not phenotype-associated VAR_003585 commonName VAR_003585 VAR_003585 disease phenotype-associated VAR_003585 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] VAR_003586 commonName VAR_003586 VAR_003586 disease phenotype-associated VAR_003586 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] VAR_003586 phenoCommon Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200] VAR_003587 commonName VAR_003587 VAR_003587 disease phenotype-associated VAR_003587 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] VAR_003588 commonName VAR_003588 VAR_003588 disease phenotype-associated VAR_003588 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200] VAR_003589 commonName VAR_003589 VAR_003590 commonName VAR_003590 VAR_003590 disease phenotype-associated VAR_003590 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] VAR_003591 commonName VAR_003591 VAR_003591 disease phenotype-associated VAR_003591 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] VAR_003592 commonName VAR_003592 VAR_003592 disease phenotype-associated VAR_003592 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] VAR_003593 commonName VAR_003593 VAR_003593 disease phenotype-associated VAR_003593 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] VAR_003594 commonName VAR_003594 VAR_003594 disease phenotype-associated VAR_003594 phenoCommon Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200] VAR_003595 commonName VAR_003595 VAR_003595 disease phenotype-associated VAR_003595 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] VAR_003596 commonName VAR_003596 VAR_003596 disease phenotype-associated VAR_003596 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] VAR_003596 phenoCommon Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200] VAR_003597 commonName VAR_003597 VAR_003597 disease phenotype-associated VAR_003597 phenoCommon Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200] VAR_003598 commonName VAR_003598 VAR_003598 disease phenotype-associated VAR_003598 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200] VAR_003599 commonName VAR_003599 VAR_003599 disease phenotype-associated VAR_003599 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] VAR_003600 commonName VAR_003600 VAR_003600 disease phenotype-associated VAR_003600 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200] VAR_003601 commonName VAR_003601 VAR_003601 disease not phenotype-associated VAR_003602 commonName VAR_003602 VAR_003602 disease phenotype-associated VAR_003602 phenoCommon Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] VAR_003603 commonName VAR_003603 VAR_003603 disease phenotype-associated VAR_003603 phenoCommon Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] VAR_003604 commonName VAR_003604 VAR_003604 disease phenotype-associated VAR_003604 phenoCommon Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] VAR_003605 commonName VAR_003605 VAR_003605 disease phenotype-associated VAR_003605 phenoCommon Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] VAR_003606 commonName VAR_003606 VAR_003606 disease phenotype-associated VAR_003606 phenoCommon Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] VAR_003607 commonName VAR_003607 VAR_003607 disease phenotype-associated VAR_003607 phenoCommon Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] VAR_003608 commonName VAR_003608 VAR_003608 disease phenotype-associated VAR_003608 phenoCommon Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] VAR_003609 commonName VAR_003609 VAR_003609 disease phenotype-associated VAR_003609 phenoCommon Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] VAR_003610 commonName VAR_003610 VAR_003610 disease phenotype-associated VAR_003610 phenoCommon Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] VAR_003611 commonName VAR_003611 VAR_003611 disease phenotype-associated VAR_003611 phenoCommon Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] VAR_003612 commonName VAR_003612 VAR_003612 disease phenotype-associated VAR_003612 phenoCommon Glutathione synthetase deficiency (GSS deficiency) [MIM:266130] VAR_003615 commonName VAR_003615 VAR_003616 commonName VAR_003616 VAR_003616 disease not phenotype-associated VAR_003617 commonName VAR_003617 VAR_003617 disease not phenotype-associated VAR_003618 commonName VAR_003618 VAR_003618 disease not phenotype-associated VAR_003619 commonName VAR_003619 VAR_003619 disease phenotype-associated VAR_003619 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_003620 commonName VAR_003620 VAR_003620 disease phenotype-associated VAR_003620 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_003621 commonName VAR_003621 VAR_003621 disease phenotype-associated VAR_003621 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_003622 commonName VAR_003622 VAR_003622 disease phenotype-associated VAR_003622 phenoCommon Trichothiodystrophy photosensitive (TTDP) [MIM:601675] VAR_003622 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] VAR_003623 commonName VAR_003623 VAR_003623 disease phenotype-associated VAR_003623 phenoCommon Trichothiodystrophy photosensitive (TTDP) [MIM:601675] VAR_003623 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] VAR_003625 commonName VAR_003625 VAR_003625 disease phenotype-associated VAR_003625 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] VAR_003626 commonName VAR_003626 VAR_003626 disease phenotype-associated VAR_003626 phenoCommon Trichothiodystrophy photosensitive (TTDP) [MIM:601675] VAR_003626 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] VAR_003627 commonName VAR_003627 VAR_003627 disease phenotype-associated VAR_003627 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] VAR_003628 commonName VAR_003628 VAR_003632 commonName VAR_003632 VAR_003632 disease phenotype-associated VAR_003632 phenoCommon Xeroderma pigmentosum complementation group B (XP-B) [MIM:610651] VAR_003633 commonName VAR_003633 VAR_003633 disease not phenotype-associated VAR_003634 commonName VAR_003634 VAR_003634 disease phenotype-associated VAR_003634 phenoCommon Acute hepatic porphyria (AHEPP) [MIM:612740] VAR_003635 commonName VAR_003635 VAR_003635 disease phenotype-associated VAR_003635 phenoCommon Acute hepatic porphyria (AHEPP) [MIM:612740] VAR_003636 commonName VAR_003636 VAR_003636 disease phenotype-associated VAR_003636 phenoCommon Acute hepatic porphyria (AHEPP) [MIM:612740] VAR_003637 commonName VAR_003637 VAR_003637 disease phenotype-associated VAR_003637 phenoCommon Acute hepatic porphyria (AHEPP) [MIM:612740] VAR_003638 commonName VAR_003638 VAR_003638 disease phenotype-associated VAR_003638 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003639 commonName VAR_003639 VAR_003639 disease phenotype-associated VAR_003639 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003640 commonName VAR_003640 VAR_003640 disease phenotype-associated VAR_003640 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003641 commonName VAR_003641 VAR_003641 disease phenotype-associated VAR_003641 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003642 commonName VAR_003642 VAR_003642 disease phenotype-associated VAR_003642 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003643 commonName VAR_003643 VAR_003643 disease phenotype-associated VAR_003643 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003644 commonName VAR_003644 VAR_003644 disease phenotype-associated VAR_003644 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003645 commonName VAR_003645 VAR_003645 disease phenotype-associated VAR_003645 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003646 commonName VAR_003646 VAR_003646 disease phenotype-associated VAR_003646 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003647 commonName VAR_003647 VAR_003647 disease phenotype-associated VAR_003647 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003648 commonName VAR_003648 VAR_003648 disease phenotype-associated VAR_003648 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003649 commonName VAR_003649 VAR_003649 disease phenotype-associated VAR_003649 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003650 commonName VAR_003650 VAR_003650 disease phenotype-associated VAR_003650 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003651 commonName VAR_003651 VAR_003651 disease phenotype-associated VAR_003651 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003652 commonName VAR_003652 VAR_003652 disease phenotype-associated VAR_003652 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003653 commonName VAR_003653 VAR_003653 disease phenotype-associated VAR_003653 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003654 commonName VAR_003654 VAR_003654 disease phenotype-associated VAR_003654 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003655 commonName VAR_003655 VAR_003655 disease phenotype-associated VAR_003655 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003656 commonName VAR_003656 VAR_003656 disease phenotype-associated VAR_003656 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003657 commonName VAR_003657 VAR_003657 disease phenotype-associated VAR_003657 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003658 commonName VAR_003658 VAR_003658 disease phenotype-associated VAR_003658 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003659 commonName VAR_003659 VAR_003659 disease phenotype-associated VAR_003659 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003660 commonName VAR_003660 VAR_003660 disease phenotype-associated VAR_003660 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003661 commonName VAR_003661 VAR_003661 disease phenotype-associated VAR_003661 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003662 commonName VAR_003662 VAR_003662 disease phenotype-associated VAR_003662 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003663 commonName VAR_003663 VAR_003663 disease phenotype-associated VAR_003663 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003664 commonName VAR_003664 VAR_003664 disease phenotype-associated VAR_003664 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003665 commonName VAR_003665 VAR_003665 disease phenotype-associated VAR_003665 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003666 commonName VAR_003666 VAR_003666 disease phenotype-associated VAR_003666 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003667 commonName VAR_003667 VAR_003667 disease phenotype-associated VAR_003667 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003668 commonName VAR_003668 VAR_003668 disease phenotype-associated VAR_003668 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003669 commonName VAR_003669 VAR_003669 disease phenotype-associated VAR_003669 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003670 commonName VAR_003670 VAR_003670 disease phenotype-associated VAR_003670 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003671 commonName VAR_003671 VAR_003671 disease phenotype-associated VAR_003671 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003672 commonName VAR_003672 VAR_003672 disease phenotype-associated VAR_003672 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003673 commonName VAR_003673 VAR_003673 disease phenotype-associated VAR_003673 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_003674 commonName VAR_003674 VAR_003674 disease phenotype-associated VAR_003674 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700] VAR_003675 commonName VAR_003675 VAR_003675 disease phenotype-associated VAR_003675 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700] VAR_003676 commonName VAR_003676 VAR_003676 disease phenotype-associated VAR_003676 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700] VAR_003677 commonName VAR_003677 VAR_003677 disease phenotype-associated VAR_003677 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700] VAR_003678 commonName VAR_003678 VAR_003678 disease phenotype-associated VAR_003678 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700] VAR_003679 commonName VAR_003679 VAR_003679 disease phenotype-associated VAR_003679 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700] VAR_003680 commonName VAR_003680 VAR_003680 disease phenotype-associated VAR_003680 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700] VAR_003681 commonName VAR_003681 VAR_003681 disease phenotype-associated VAR_003681 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700] VAR_003682 commonName VAR_003682 VAR_003682 disease phenotype-associated VAR_003682 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700] VAR_003683 commonName VAR_003683 VAR_003683 disease phenotype-associated VAR_003683 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700] VAR_003684 commonName VAR_003684 VAR_003684 disease phenotype-associated VAR_003684 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700] VAR_003685 commonName VAR_003685 VAR_003685 disease phenotype-associated VAR_003685 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700] VAR_003686 commonName VAR_003686 VAR_003686 disease phenotype-associated VAR_003686 phenoCommon Variegate porphyria (VP) [MIM:176200] VAR_003687 commonName VAR_003687 VAR_003687 disease phenotype-associated VAR_003687 phenoCommon Variegate porphyria (VP) [MIM:176200] VAR_003688 commonName VAR_003688 VAR_003688 disease not phenotype-associated VAR_003689 commonName VAR_003689 VAR_003689 disease phenotype-associated VAR_003689 phenoCommon Variegate porphyria (VP) [MIM:176200] VAR_003690 commonName VAR_003690 VAR_003690 disease not phenotype-associated VAR_003691 commonName VAR_003691 VAR_003691 disease not phenotype-associated VAR_003692 commonName VAR_003692 VAR_003692 disease not phenotype-associated VAR_003693 commonName VAR_003693 VAR_003693 disease phenotype-associated VAR_003693 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_003694 commonName VAR_003694 VAR_003694 disease phenotype-associated VAR_003694 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_003695 commonName VAR_003695 VAR_003695 disease phenotype-associated VAR_003695 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_003696 commonName VAR_003696 VAR_003696 disease not phenotype-associated VAR_003697 commonName VAR_003697 VAR_003697 disease phenotype-associated VAR_003697 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_003698 commonName VAR_003698 VAR_003698 disease phenotype-associated VAR_003698 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_003699 commonName VAR_003699 VAR_003699 disease phenotype-associated VAR_003699 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_003700 commonName VAR_003700 VAR_003700 disease phenotype-associated VAR_003700 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_003701 commonName VAR_003701 VAR_003701 disease phenotype-associated VAR_003701 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_003702 commonName VAR_003702 VAR_003702 disease phenotype-associated VAR_003702 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_003703 commonName VAR_003703 VAR_003703 disease phenotype-associated VAR_003703 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_003704 commonName VAR_003704 VAR_003704 disease phenotype-associated VAR_003704 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_003705 commonName VAR_003705 VAR_003705 disease phenotype-associated VAR_003705 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_003706 commonName VAR_003706 VAR_003706 disease phenotype-associated VAR_003706 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_003707 commonName VAR_003707 VAR_003707 disease phenotype-associated VAR_003707 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_003708 commonName VAR_003708 VAR_003708 disease phenotype-associated VAR_003708 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_003709 commonName VAR_003709 VAR_003709 disease phenotype-associated VAR_003709 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_003710 commonName VAR_003710 VAR_003710 disease phenotype-associated VAR_003710 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_003711 commonName VAR_003711 VAR_003711 disease phenotype-associated VAR_003711 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_003712 commonName VAR_003712 VAR_003712 disease phenotype-associated VAR_003712 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_003713 commonName VAR_003713 VAR_003713 disease phenotype-associated VAR_003713 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_003714 commonName VAR_003714 VAR_003714 disease phenotype-associated VAR_003714 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_003715 commonName VAR_003715 VAR_003715 disease phenotype-associated VAR_003715 phenoCommon Familial hyperinsulinemic hypoglycemia type 3 (HHF3) [MIM:602485] VAR_003716 commonName VAR_003716 VAR_003717 commonName VAR_003717 VAR_003717 disease phenotype-associated VAR_003717 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044] VAR_003718 commonName VAR_003718 VAR_003718 disease phenotype-associated VAR_003718 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044] VAR_003719 commonName VAR_003719 VAR_003719 disease phenotype-associated VAR_003719 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044] VAR_003720 commonName VAR_003720 VAR_003720 disease phenotype-associated VAR_003720 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044] VAR_003721 commonName VAR_003721 VAR_003721 disease phenotype-associated VAR_003721 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044] VAR_003722 commonName VAR_003722 VAR_003722 disease phenotype-associated VAR_003722 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044] VAR_003723 commonName VAR_003723 VAR_003723 disease phenotype-associated VAR_003723 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044] VAR_003724 commonName VAR_003724 VAR_003724 disease phenotype-associated VAR_003724 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044] VAR_003725 commonName VAR_003725 VAR_003725 disease phenotype-associated VAR_003725 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044] VAR_003726 commonName VAR_003726 VAR_003726 disease phenotype-associated VAR_003726 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044] VAR_003727 commonName VAR_003727 VAR_003727 disease phenotype-associated VAR_003727 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044] VAR_003728 commonName VAR_003728 VAR_003728 disease phenotype-associated VAR_003728 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044] VAR_003729 commonName VAR_003729 VAR_003729 disease phenotype-associated VAR_003729 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044] VAR_003730 commonName VAR_003730 VAR_003730 disease phenotype-associated VAR_003730 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044] VAR_003731 commonName VAR_003731 VAR_003731 disease phenotype-associated VAR_003731 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044] VAR_003732 commonName VAR_003732 VAR_003732 disease phenotype-associated VAR_003732 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044] VAR_003733 commonName VAR_003733 VAR_003733 disease phenotype-associated VAR_003733 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044] VAR_003734 commonName VAR_003734 VAR_003734 disease phenotype-associated VAR_003734 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044] VAR_003735 commonName VAR_003735 VAR_003735 disease phenotype-associated VAR_003735 phenoCommon Campomelic dysplasia (CMD1) [MIM:114290] VAR_003736 commonName VAR_003736 VAR_003736 disease phenotype-associated VAR_003736 phenoCommon Campomelic dysplasia (CMD1) [MIM:114290] VAR_003737 commonName VAR_003737 VAR_003737 disease phenotype-associated VAR_003737 phenoCommon Campomelic dysplasia (CMD1) [MIM:114290] VAR_003738 commonName VAR_003738 VAR_003738 disease phenotype-associated VAR_003738 phenoCommon Campomelic dysplasia (CMD1) [MIM:114290] VAR_003739 commonName VAR_003739 VAR_003739 disease phenotype-associated VAR_003739 phenoCommon Campomelic dysplasia (CMD1) [MIM:114290] VAR_003740 commonName VAR_003740 VAR_003740 disease phenotype-associated VAR_003740 phenoCommon Campomelic dysplasia (CMD1) [MIM:114290] VAR_003741 commonName VAR_003741 VAR_003741 disease phenotype-associated VAR_003741 phenoCommon Campomelic dysplasia (CMD1) [MIM:114290] VAR_003744 commonName VAR_003744 VAR_003744 disease phenotype-associated VAR_003744 phenoCommon 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] VAR_003745 commonName VAR_003745 VAR_003745 disease phenotype-associated VAR_003745 phenoCommon 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] VAR_003746 commonName VAR_003746 VAR_003746 disease phenotype-associated VAR_003746 phenoCommon 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] VAR_003747 commonName VAR_003747 VAR_003747 disease phenotype-associated VAR_003747 phenoCommon 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] VAR_003748 commonName VAR_003748 VAR_003748 disease phenotype-associated VAR_003748 phenoCommon 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] VAR_003750 commonName VAR_003750 VAR_003750 disease phenotype-associated VAR_003750 phenoCommon Cone-rod dystrophy type 2 (CORD2) [MIM:120970] VAR_003751 commonName VAR_003751 VAR_003751 disease phenotype-associated VAR_003751 phenoCommon Cone-rod dystrophy type 2 (CORD2) [MIM:120970] VAR_003752 commonName VAR_003752 VAR_003752 disease phenotype-associated VAR_003752 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_003753 commonName VAR_003753 VAR_003753 disease not phenotype-associated VAR_003754 commonName VAR_003754 VAR_003754 disease phenotype-associated VAR_003754 phenoCommon Tooth agenesis selective type 1 (STHAG1) [MIM:106600] VAR_003755 commonName VAR_003755 VAR_003755 disease phenotype-associated VAR_003755 phenoCommon Craniosynostosis type 2 (CRS2) [MIM:604757] VAR_003756 commonName VAR_003756 VAR_003756 disease phenotype-associated VAR_003756 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] VAR_003757 commonName VAR_003757 VAR_003757 disease phenotype-associated VAR_003757 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] VAR_003758 commonName VAR_003758 VAR_003758 disease phenotype-associated VAR_003758 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] VAR_003759 commonName VAR_003759 VAR_003759 disease phenotype-associated VAR_003759 phenoCommon Diabetes mellitus insulin-dependent type 20 (IDDM20) [MIM:612520] VAR_003759 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] VAR_003760 commonName VAR_003760 VAR_003760 disease phenotype-associated VAR_003760 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] VAR_003762 commonName VAR_003762 VAR_003762 disease phenotype-associated VAR_003762 phenoCommon Iridogoniodysgenesis type 2 (IRID2) [MIM:137600] VAR_003763 commonName VAR_003763 VAR_003763 disease phenotype-associated VAR_003763 phenoCommon Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500] VAR_003764 commonName VAR_003764 VAR_003764 disease phenotype-associated VAR_003764 phenoCommon Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500] VAR_003765 commonName VAR_003765 VAR_003765 disease phenotype-associated VAR_003765 phenoCommon Iridogoniodysgenesis type 2 (IRID2) [MIM:137600] VAR_003766 commonName VAR_003766 VAR_003766 disease phenotype-associated VAR_003766 phenoCommon Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500] VAR_003767 commonName VAR_003767 VAR_003767 disease phenotype-associated VAR_003767 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219] VAR_003768 commonName VAR_003768 VAR_003768 disease phenotype-associated VAR_003768 phenoCommon Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600] VAR_003769 commonName VAR_003769 VAR_003769 disease phenotype-associated VAR_003769 phenoCommon Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600] VAR_003770 commonName VAR_003770 VAR_003770 disease phenotype-associated VAR_003770 phenoCommon Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600] VAR_003771 commonName VAR_003771 VAR_003771 disease phenotype-associated VAR_003771 phenoCommon Holoprosencephaly type 2 (HPE2) [MIM:157170] VAR_003772 commonName VAR_003772 VAR_003772 disease phenotype-associated VAR_003772 phenoCommon Holoprosencephaly type 2 (HPE2) [MIM:157170] VAR_003773 commonName VAR_003773 VAR_003773 disease phenotype-associated VAR_003773 phenoCommon Holoprosencephaly type 2 (HPE2) [MIM:157170] VAR_003776 commonName VAR_003776 VAR_003776 disease not phenotype-associated VAR_003777 commonName VAR_003777 VAR_003777 disease phenotype-associated VAR_003777 phenoCommon Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038] VAR_003778 commonName VAR_003778 VAR_003778 disease phenotype-associated VAR_003778 phenoCommon Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038] VAR_003779 commonName VAR_003779 VAR_003779 disease phenotype-associated VAR_003779 phenoCommon Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038] VAR_003780 commonName VAR_003780 VAR_003780 disease not phenotype-associated VAR_003781 commonName VAR_003781 VAR_003781 disease phenotype-associated VAR_003781 phenoCommon Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038] VAR_003782 commonName VAR_003782 VAR_003782 disease phenotype-associated VAR_003782 phenoCommon Deafness X-linked type 2 (DFNX2) [MIM:304400] VAR_003783 commonName VAR_003783 VAR_003783 disease phenotype-associated VAR_003783 phenoCommon Deafness X-linked type 2 (DFNX2) [MIM:304400] VAR_003784 commonName VAR_003784 VAR_003784 disease phenotype-associated VAR_003784 phenoCommon Deafness X-linked type 2 (DFNX2) [MIM:304400] VAR_003785 commonName VAR_003785 VAR_003785 disease phenotype-associated VAR_003785 phenoCommon Deafness X-linked type 2 (DFNX2) [MIM:304400] VAR_003786 commonName VAR_003786 VAR_003786 disease phenotype-associated VAR_003786 phenoCommon Deafness X-linked type 2 (DFNX2) [MIM:304400] VAR_003787 commonName VAR_003787 VAR_003789 commonName VAR_003789 VAR_003789 disease phenotype-associated VAR_003789 phenoCommon Renal-coloboma syndrome (RCS) [MIM:120330] VAR_003790 commonName VAR_003790 VAR_003790 disease phenotype-associated VAR_003790 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500] VAR_003791 commonName VAR_003791 VAR_003791 disease phenotype-associated VAR_003791 phenoCommon Waardenburg syndrome type 3 (WS3) [MIM:148820] VAR_003792 commonName VAR_003792 VAR_003792 disease phenotype-associated VAR_003792 phenoCommon Craniofacial-deafness-hand syndrome (CDHS) [MIM:122880] VAR_003793 commonName VAR_003793 VAR_003793 disease phenotype-associated VAR_003793 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500] VAR_003794 commonName VAR_003794 VAR_003794 disease phenotype-associated VAR_003794 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500] VAR_003795 commonName VAR_003795 VAR_003795 disease phenotype-associated VAR_003795 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500] VAR_003796 commonName VAR_003796 VAR_003796 disease phenotype-associated VAR_003796 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500] VAR_003797 commonName VAR_003797 VAR_003797 disease phenotype-associated VAR_003797 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500] VAR_003798 commonName VAR_003798 VAR_003798 disease phenotype-associated VAR_003798 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500] VAR_003800 commonName VAR_003800 VAR_003800 disease phenotype-associated VAR_003800 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500] VAR_003801 commonName VAR_003801 VAR_003801 disease phenotype-associated VAR_003801 phenoCommon Waardenburg syndrome type 3 (WS3) [MIM:148820] VAR_003802 commonName VAR_003802 VAR_003802 disease phenotype-associated VAR_003802 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500] VAR_003803 commonName VAR_003803 VAR_003803 disease phenotype-associated VAR_003803 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500] VAR_003804 commonName VAR_003804 VAR_003804 disease phenotype-associated VAR_003804 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500] VAR_003805 commonName VAR_003805 VAR_003805 disease phenotype-associated VAR_003805 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500] VAR_003806 commonName VAR_003806 VAR_003806 disease phenotype-associated VAR_003806 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500] VAR_003807 commonName VAR_003807 VAR_003807 disease not phenotype-associated VAR_003808 commonName VAR_003808 VAR_003808 disease phenotype-associated VAR_003808 phenoCommon Aniridia (AN) [MIM:106210] VAR_003809 commonName VAR_003809 VAR_003809 disease phenotype-associated VAR_003809 phenoCommon Aniridia (AN) [MIM:106210] VAR_003810 commonName VAR_003810 VAR_003810 disease phenotype-associated VAR_003810 phenoCommon Peters anomaly (PAN) [MIM:604229] VAR_003811 commonName VAR_003811 VAR_003811 disease phenotype-associated VAR_003811 phenoCommon Aniridia (AN) [MIM:106210] VAR_003812 commonName VAR_003812 VAR_003812 disease phenotype-associated VAR_003812 phenoCommon Aniridia (AN) [MIM:106210] VAR_003813 commonName VAR_003813 VAR_003813 disease phenotype-associated VAR_003813 phenoCommon Aniridia (AN) [MIM:106210] VAR_003814 commonName VAR_003814 VAR_003814 disease phenotype-associated VAR_003814 phenoCommon Foveal hypoplasia (FOVHYP) [MIM:136520] VAR_003815 commonName VAR_003815 VAR_003815 disease phenotype-associated VAR_003815 phenoCommon Aniridia (AN) [MIM:106210] VAR_003816 commonName VAR_003816 VAR_003816 disease phenotype-associated VAR_003816 phenoCommon Aniridia (AN) [MIM:106210] VAR_003819 commonName VAR_003819 VAR_003819 disease phenotype-associated VAR_003819 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219] VAR_003821 commonName VAR_003821 VAR_003821 disease not phenotype-associated VAR_003822 commonName VAR_003822 VAR_003822 disease phenotype-associated VAR_003822 phenoCommon Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200] VAR_003823 commonName VAR_003823 VAR_003823 disease phenotype-associated VAR_003823 phenoCommon Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200] VAR_003824 commonName VAR_003824 VAR_003824 disease phenotype-associated VAR_003824 phenoCommon Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200] VAR_003825 commonName VAR_003825 VAR_003825 disease phenotype-associated VAR_003825 phenoCommon Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200] VAR_003826 commonName VAR_003826 VAR_003826 disease phenotype-associated VAR_003826 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800] VAR_003827 commonName VAR_003827 VAR_003827 disease phenotype-associated VAR_003827 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800] VAR_003828 commonName VAR_003828 VAR_003828 disease phenotype-associated VAR_003828 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800] VAR_003829 commonName VAR_003829 VAR_003829 disease phenotype-associated VAR_003829 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800] VAR_003830 commonName VAR_003830 VAR_003830 disease phenotype-associated VAR_003830 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800] VAR_003831 commonName VAR_003831 VAR_003831 disease phenotype-associated VAR_003831 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800] VAR_003832 commonName VAR_003832 VAR_003832 disease phenotype-associated VAR_003832 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800] VAR_003833 commonName VAR_003833 VAR_003833 disease phenotype-associated VAR_003833 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800] VAR_003834 commonName VAR_003834 VAR_003834 disease phenotype-associated VAR_003834 phenoCommon Meesmann corneal dystrophy (MECD) [MIM:122100] VAR_003835 commonName VAR_003835 VAR_003835 disease phenotype-associated VAR_003835 phenoCommon Meesmann corneal dystrophy (MECD) [MIM:122100] VAR_003836 commonName VAR_003836 VAR_003836 disease phenotype-associated VAR_003836 phenoCommon White sponge nevus of cannon (WSN) [MIM:193900] VAR_003837 commonName VAR_003837 VAR_003837 disease phenotype-associated VAR_003837 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] VAR_003838 commonName VAR_003838 VAR_003838 disease phenotype-associated VAR_003838 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] VAR_003839 commonName VAR_003839 VAR_003839 disease phenotype-associated VAR_003839 phenoCommon Epidermolysis bullosa simplex autosomal recessive (AREBS) [MIM:601001] VAR_003840 commonName VAR_003840 VAR_003840 disease phenotype-associated VAR_003840 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_003841 commonName VAR_003841 VAR_003841 disease phenotype-associated VAR_003841 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] VAR_003843 commonName VAR_003843 VAR_003843 disease phenotype-associated VAR_003843 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] VAR_003844 commonName VAR_003844 VAR_003844 disease phenotype-associated VAR_003844 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] VAR_003845 commonName VAR_003845 VAR_003845 disease phenotype-associated VAR_003845 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] VAR_003846 commonName VAR_003846 VAR_003846 disease phenotype-associated VAR_003846 phenoCommon Pachyonychia congenita type 1 (PC1) [MIM:167200] VAR_003847 commonName VAR_003847 VAR_003847 disease phenotype-associated VAR_003847 phenoCommon Pachyonychia congenita type 2 (PC2) [MIM:167210] VAR_003848 commonName VAR_003848 VAR_003848 disease phenotype-associated VAR_003848 phenoCommon Steatocystoma multiplex (SM) [MIM:184500] VAR_003849 commonName VAR_003849 VAR_003849 disease phenotype-associated VAR_003849 phenoCommon Pachyonychia congenita type 2 (PC2) [MIM:167210] VAR_003850 commonName VAR_003850 VAR_003850 disease phenotype-associated VAR_003850 phenoCommon Steatocystoma multiplex (SM) [MIM:184500] VAR_003851 commonName VAR_003851 VAR_003851 disease phenotype-associated VAR_003851 phenoCommon Pachyonychia congenita type 2 (PC2) [MIM:167210] VAR_003852 commonName VAR_003852 VAR_003852 disease phenotype-associated VAR_003852 phenoCommon Cirrhosis (CIRRH) [MIM:215600] VAR_003853 commonName VAR_003853 VAR_003853 disease phenotype-associated VAR_003853 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800] VAR_003854 commonName VAR_003854 VAR_003854 disease phenotype-associated VAR_003854 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800] VAR_003855 commonName VAR_003855 VAR_003855 disease phenotype-associated VAR_003855 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800] VAR_003856 commonName VAR_003856 VAR_003856 disease phenotype-associated VAR_003856 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800] VAR_003857 commonName VAR_003857 VAR_003857 disease phenotype-associated VAR_003857 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800] VAR_003858 commonName VAR_003858 VAR_003858 disease not phenotype-associated VAR_003859 commonName VAR_003859 VAR_003859 disease not phenotype-associated VAR_003860 commonName VAR_003860 VAR_003860 disease not phenotype-associated VAR_003861 commonName VAR_003861 VAR_003861 disease phenotype-associated VAR_003861 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800] VAR_003862 commonName VAR_003862 VAR_003862 disease not phenotype-associated VAR_003863 commonName VAR_003863 VAR_003863 disease not phenotype-associated VAR_003865 commonName VAR_003865 VAR_003865 disease phenotype-associated VAR_003865 phenoCommon Ichthyosis bullosa of Siemens (IBS) [MIM:146800] VAR_003866 commonName VAR_003866 VAR_003866 disease phenotype-associated VAR_003866 phenoCommon Ichthyosis bullosa of Siemens (IBS) [MIM:146800] VAR_003867 commonName VAR_003867 VAR_003867 disease phenotype-associated VAR_003867 phenoCommon Ichthyosis bullosa of Siemens (IBS) [MIM:146800] VAR_003868 commonName VAR_003868 VAR_003868 disease phenotype-associated VAR_003868 phenoCommon Meesmann corneal dystrophy (MECD) [MIM:122100] VAR_003871 commonName VAR_003871 VAR_003871 disease not phenotype-associated VAR_003872 commonName VAR_003872 VAR_003872 disease phenotype-associated VAR_003872 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_003873 commonName VAR_003873 VAR_003873 disease phenotype-associated VAR_003873 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] VAR_003873 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_003874 commonName VAR_003874 VAR_003874 disease phenotype-associated VAR_003874 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_003875 commonName VAR_003875 VAR_003875 disease phenotype-associated VAR_003875 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_003876 commonName VAR_003876 VAR_003876 disease phenotype-associated VAR_003876 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] VAR_003877 commonName VAR_003877 VAR_003877 disease phenotype-associated VAR_003877 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] VAR_003885 commonName VAR_003885 VAR_003885 disease not phenotype-associated VAR_003886 commonName VAR_003886 VAR_003887 commonName VAR_003887 VAR_003888 commonName VAR_003888 VAR_003905 commonName VAR_003905 VAR_003905 disease not phenotype-associated VAR_003906 commonName VAR_003906 VAR_003906 disease not phenotype-associated VAR_003907 commonName VAR_003907 VAR_003907 disease not phenotype-associated VAR_003908 commonName VAR_003908 VAR_003908 disease not phenotype-associated VAR_003909 comment A esophageal carcinoma VAR_003909 commonName VAR_003909 VAR_003910 commonName VAR_003910 VAR_003910 disease not phenotype-associated VAR_003912 commonName VAR_003912 VAR_003913 commonName VAR_003913 VAR_003914 commonName VAR_003914 VAR_003914 disease not phenotype-associated VAR_003915 commonName VAR_003915 VAR_003915 disease not phenotype-associated VAR_003916 commonName VAR_003916 VAR_003916 disease not phenotype-associated VAR_003920 commonName VAR_003920 VAR_003920 disease not phenotype-associated VAR_003921 commonName VAR_003921 VAR_003921 disease phenotype-associated VAR_003921 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] VAR_003922 commonName VAR_003922 VAR_003922 disease phenotype-associated VAR_003922 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] VAR_003923 commonName VAR_003923 VAR_003923 disease phenotype-associated VAR_003923 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] VAR_003923 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] VAR_003923 phenoCommon Spastic paraplegia X-linked type 1 (SPG1) [MIM:303350] VAR_003924 commonName VAR_003924 VAR_003924 disease phenotype-associated VAR_003924 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] VAR_003925 commonName VAR_003925 VAR_003925 disease phenotype-associated VAR_003925 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] VAR_003926 commonName VAR_003926 VAR_003926 disease phenotype-associated VAR_003926 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] VAR_003927 commonName VAR_003927 VAR_003927 disease phenotype-associated VAR_003927 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] VAR_003928 commonName VAR_003928 VAR_003928 disease phenotype-associated VAR_003928 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] VAR_003928 phenoCommon Partial agenesis of the corpus callosum (ACCPX) [MIM:304100] VAR_003929 commonName VAR_003929 VAR_003929 disease phenotype-associated VAR_003929 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] VAR_003930 commonName VAR_003930 VAR_003930 disease phenotype-associated VAR_003930 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] VAR_003931 commonName VAR_003931 VAR_003931 disease phenotype-associated VAR_003931 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] VAR_003931 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] VAR_003932 commonName VAR_003932 VAR_003932 disease phenotype-associated VAR_003932 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] VAR_003932 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] VAR_003932 phenoCommon Spastic paraplegia X-linked type 1 (SPG1) [MIM:303350] VAR_003933 commonName VAR_003933 VAR_003933 disease phenotype-associated VAR_003933 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] VAR_003935 commonName VAR_003935 VAR_003935 disease phenotype-associated VAR_003935 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] VAR_003936 commonName VAR_003936 VAR_003936 disease phenotype-associated VAR_003936 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] VAR_003936 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] VAR_003937 commonName VAR_003937 VAR_003937 disease phenotype-associated VAR_003937 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] VAR_003938 commonName VAR_003938 VAR_003938 disease phenotype-associated VAR_003938 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] VAR_003939 commonName VAR_003939 VAR_003939 disease phenotype-associated VAR_003939 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] VAR_003940 commonName VAR_003940 VAR_003940 disease phenotype-associated VAR_003940 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] VAR_003940 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] VAR_003941 commonName VAR_003941 VAR_003941 disease phenotype-associated VAR_003941 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] VAR_003942 commonName VAR_003942 VAR_003942 disease phenotype-associated VAR_003942 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] VAR_003943 commonName VAR_003943 VAR_003943 disease phenotype-associated VAR_003943 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] VAR_003945 commonName VAR_003945 VAR_003945 disease phenotype-associated VAR_003945 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] VAR_003945 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] VAR_003946 commonName VAR_003946 VAR_003946 disease phenotype-associated VAR_003946 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] VAR_003947 commonName VAR_003947 VAR_003947 disease phenotype-associated VAR_003947 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] VAR_003947 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] VAR_003948 commonName VAR_003948 VAR_003948 disease phenotype-associated VAR_003948 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] VAR_003952 commonName VAR_003952 VAR_003952 disease not phenotype-associated VAR_003955 commonName VAR_003955 VAR_003955 disease not phenotype-associated VAR_003956 commonName VAR_003956 VAR_003956 disease not phenotype-associated VAR_003957 commonName VAR_003957 VAR_003957 disease not phenotype-associated VAR_003960 commonName VAR_003960 VAR_003960 disease not phenotype-associated VAR_003963 commonName VAR_003963 VAR_003963 disease not phenotype-associated VAR_003964 commonName VAR_003964 VAR_003964 disease not phenotype-associated VAR_003969 commonName VAR_003969 VAR_003969 disease not phenotype-associated VAR_003970 commonName VAR_003970 VAR_003970 disease not phenotype-associated VAR_003971 commonName VAR_003971 VAR_003971 disease phenotype-associated VAR_003971 phenoCommon Familial hyperproinsulinemia (FHPRI) [MIM:176730] VAR_003972 commonName VAR_003972 VAR_003973 commonName VAR_003973 VAR_003974 commonName VAR_003974 VAR_003974 disease phenotype-associated VAR_003974 phenoCommon Familial hyperproinsulinemia (FHPRI) [MIM:176730] VAR_003975 commonName VAR_003975 VAR_003975 disease phenotype-associated VAR_003975 phenoCommon Familial hyperproinsulinemia (FHPRI) [MIM:176730] VAR_003976 commonName VAR_003976 VAR_003977 commonName VAR_003977 VAR_003977 disease not phenotype-associated VAR_003978 commonName VAR_003978 VAR_003978 disease not phenotype-associated VAR_003979 commonName VAR_003979 VAR_003979 disease phenotype-associated VAR_003979 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_003980 commonName VAR_003980 VAR_003980 disease phenotype-associated VAR_003980 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_003981 commonName VAR_003981 VAR_003981 disease phenotype-associated VAR_003981 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_003982 commonName VAR_003982 VAR_003982 disease phenotype-associated VAR_003982 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_003983 commonName VAR_003983 VAR_003983 disease not phenotype-associated VAR_003984 commonName VAR_003984 VAR_003984 disease phenotype-associated VAR_003984 phenoCommon Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920] VAR_003985 commonName VAR_003985 VAR_003985 disease phenotype-associated VAR_003985 phenoCommon Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920] VAR_003986 commonName VAR_003986 VAR_003986 disease phenotype-associated VAR_003986 phenoCommon Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920] VAR_003987 commonName VAR_003987 VAR_003987 disease phenotype-associated VAR_003987 phenoCommon Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920] VAR_003988 commonName VAR_003988 VAR_003988 disease phenotype-associated VAR_003988 phenoCommon Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920] VAR_003989 commonName VAR_003989 VAR_003989 disease phenotype-associated VAR_003989 phenoCommon Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920] VAR_003990 commonName VAR_003990 VAR_003990 disease phenotype-associated VAR_003990 phenoCommon Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920] VAR_003991 commonName VAR_003991 VAR_003991 disease phenotype-associated VAR_003991 phenoCommon Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920] VAR_003992 commonName VAR_003992 VAR_003992 disease phenotype-associated VAR_003992 phenoCommon Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920] VAR_003993 commonName VAR_003993 VAR_003993 disease not phenotype-associated VAR_003994 commonName VAR_003994 VAR_003994 disease not phenotype-associated VAR_003995 commonName VAR_003995 VAR_003996 commonName VAR_003996 VAR_003996 disease not phenotype-associated VAR_003997 commonName VAR_003997 VAR_003998 commonName VAR_003998 VAR_003998 disease phenotype-associated VAR_003998 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_003999 commonName VAR_003999 VAR_003999 disease phenotype-associated VAR_003999 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_004000 commonName VAR_004000 VAR_004000 disease phenotype-associated VAR_004000 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_004001 commonName VAR_004001 VAR_004001 disease phenotype-associated VAR_004001 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_004002 commonName VAR_004002 VAR_004002 disease phenotype-associated VAR_004002 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_004003 commonName VAR_004003 VAR_004003 disease phenotype-associated VAR_004003 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_004004 commonName VAR_004004 VAR_004004 disease phenotype-associated VAR_004004 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_004005 commonName VAR_004005 VAR_004005 disease phenotype-associated VAR_004005 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_004006 commonName VAR_004006 VAR_004006 disease phenotype-associated VAR_004006 phenoCommon Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730] VAR_004007 commonName VAR_004007 VAR_004007 disease phenotype-associated VAR_004007 phenoCommon Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730] VAR_004008 commonName VAR_004008 VAR_004008 disease phenotype-associated VAR_004008 phenoCommon Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730] VAR_004009 commonName VAR_004009 VAR_004009 disease phenotype-associated VAR_004009 phenoCommon Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730] VAR_004010 commonName VAR_004010 VAR_004010 disease phenotype-associated VAR_004010 phenoCommon Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730] VAR_004011 commonName VAR_004011 VAR_004011 disease phenotype-associated VAR_004011 phenoCommon Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730] VAR_004016 commonName VAR_004016 VAR_004017 commonName VAR_004017 VAR_004017 disease not phenotype-associated VAR_004018 commonName VAR_004018 VAR_004018 disease not phenotype-associated VAR_004019 commonName VAR_004019 VAR_004019 disease not phenotype-associated VAR_004020 commonName VAR_004020 VAR_004020 disease not phenotype-associated VAR_004021 commonName VAR_004021 VAR_004021 disease phenotype-associated VAR_004021 phenoCommon Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631] VAR_004022 commonName VAR_004022 VAR_004022 disease phenotype-associated VAR_004022 phenoCommon Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] VAR_004022 phenoCommon Mevalonic aciduria (MEVA) [MIM:610377] VAR_004023 commonName VAR_004023 VAR_004023 disease phenotype-associated VAR_004023 phenoCommon Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] VAR_004028 commonName VAR_004028 VAR_004028 disease phenotype-associated VAR_004028 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004030 commonName VAR_004030 VAR_004030 disease phenotype-associated VAR_004030 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004031 commonName VAR_004031 VAR_004031 disease phenotype-associated VAR_004031 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004032 commonName VAR_004032 VAR_004032 disease phenotype-associated VAR_004032 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004033 commonName VAR_004033 VAR_004033 disease phenotype-associated VAR_004033 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004035 commonName VAR_004035 VAR_004035 disease phenotype-associated VAR_004035 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004036 commonName VAR_004036 VAR_004036 disease phenotype-associated VAR_004036 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004037 commonName VAR_004037 VAR_004037 disease phenotype-associated VAR_004037 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004038 commonName VAR_004038 VAR_004038 disease phenotype-associated VAR_004038 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004039 commonName VAR_004039 VAR_004039 disease phenotype-associated VAR_004039 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004040 commonName VAR_004040 VAR_004040 disease phenotype-associated VAR_004040 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004041 commonName VAR_004041 VAR_004041 disease phenotype-associated VAR_004041 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004042 commonName VAR_004042 VAR_004042 disease phenotype-associated VAR_004042 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004043 commonName VAR_004043 VAR_004043 disease phenotype-associated VAR_004043 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004044 commonName VAR_004044 VAR_004044 disease phenotype-associated VAR_004044 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004045 commonName VAR_004045 VAR_004045 disease phenotype-associated VAR_004045 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004047 commonName VAR_004047 VAR_004047 disease phenotype-associated VAR_004047 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004048 commonName VAR_004048 VAR_004048 disease phenotype-associated VAR_004048 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004049 commonName VAR_004049 VAR_004049 disease phenotype-associated VAR_004049 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004050 commonName VAR_004050 VAR_004050 disease phenotype-associated VAR_004050 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004051 commonName VAR_004051 VAR_004051 disease phenotype-associated VAR_004051 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004052 commonName VAR_004052 VAR_004052 disease phenotype-associated VAR_004052 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004053 commonName VAR_004053 VAR_004053 disease phenotype-associated VAR_004053 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004054 commonName VAR_004054 VAR_004054 disease phenotype-associated VAR_004054 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004055 commonName VAR_004055 VAR_004055 disease phenotype-associated VAR_004055 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004057 commonName VAR_004057 VAR_004057 disease phenotype-associated VAR_004057 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004058 commonName VAR_004058 VAR_004058 disease phenotype-associated VAR_004058 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004059 commonName VAR_004059 VAR_004059 disease phenotype-associated VAR_004059 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004060 commonName VAR_004060 VAR_004060 disease phenotype-associated VAR_004060 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004061 commonName VAR_004061 VAR_004061 disease phenotype-associated VAR_004061 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004062 commonName VAR_004062 VAR_004062 disease phenotype-associated VAR_004062 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004063 commonName VAR_004063 VAR_004063 disease phenotype-associated VAR_004063 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004064 commonName VAR_004064 VAR_004064 disease phenotype-associated VAR_004064 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004065 commonName VAR_004065 VAR_004065 disease phenotype-associated VAR_004065 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004066 commonName VAR_004066 VAR_004066 disease phenotype-associated VAR_004066 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004067 commonName VAR_004067 VAR_004067 disease phenotype-associated VAR_004067 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004068 commonName VAR_004068 VAR_004068 disease phenotype-associated VAR_004068 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004069 commonName VAR_004069 VAR_004069 disease phenotype-associated VAR_004069 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004070 commonName VAR_004070 VAR_004070 disease phenotype-associated VAR_004070 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004071 commonName VAR_004071 VAR_004071 disease phenotype-associated VAR_004071 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004072 commonName VAR_004072 VAR_004072 disease phenotype-associated VAR_004072 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004073 commonName VAR_004073 VAR_004073 disease phenotype-associated VAR_004073 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004074 commonName VAR_004074 VAR_004074 disease phenotype-associated VAR_004074 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004075 commonName VAR_004075 VAR_004075 disease phenotype-associated VAR_004075 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004076 commonName VAR_004076 VAR_004076 disease phenotype-associated VAR_004076 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_004077 commonName VAR_004077 VAR_004077 disease not phenotype-associated VAR_004078 commonName VAR_004078 VAR_004078 disease not phenotype-associated VAR_004079 commonName VAR_004079 VAR_004079 disease phenotype-associated VAR_004079 phenoCommon Rabson-Mendenhall syndrome (RMS) [MIM:262190] VAR_004080 commonName VAR_004080 VAR_004080 disease phenotype-associated VAR_004080 phenoCommon Leprechaunism (LEPRCH) [MIM:246200] VAR_004081 commonName VAR_004081 VAR_004081 disease phenotype-associated VAR_004081 phenoCommon Leprechaunism (LEPRCH) [MIM:246200] VAR_004082 commonName VAR_004082 VAR_004082 disease phenotype-associated VAR_004082 phenoCommon Leprechaunism (LEPRCH) [MIM:246200] VAR_004083 commonName VAR_004083 VAR_004084 commonName VAR_004084 VAR_004084 disease phenotype-associated VAR_004084 phenoCommon Leprechaunism (LEPRCH) [MIM:246200] VAR_004085 commonName VAR_004085 VAR_004085 disease phenotype-associated VAR_004085 phenoCommon Leprechaunism (LEPRCH) [MIM:246200] VAR_004086 commonName VAR_004086 VAR_004086 disease phenotype-associated VAR_004086 phenoCommon Leprechaunism (LEPRCH) [MIM:246200] VAR_004087 commonName VAR_004087 VAR_004087 disease phenotype-associated VAR_004087 phenoCommon Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] VAR_004088 commonName VAR_004088 VAR_004088 disease phenotype-associated VAR_004088 phenoCommon Leprechaunism (LEPRCH) [MIM:246200] VAR_004089 commonName VAR_004089 VAR_004089 disease phenotype-associated VAR_004089 phenoCommon Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] VAR_004103 commonName VAR_004103 VAR_004103 disease phenotype-associated VAR_004103 phenoCommon Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] VAR_004104 commonName VAR_004104 VAR_004104 disease phenotype-associated VAR_004104 phenoCommon Piebald trait (PBT) [MIM:172800] VAR_004105 commonName VAR_004105 VAR_004105 disease phenotype-associated VAR_004105 phenoCommon Piebald trait (PBT) [MIM:172800] VAR_004106 commonName VAR_004106 VAR_004106 disease phenotype-associated VAR_004106 phenoCommon Piebald trait (PBT) [MIM:172800] VAR_004107 commonName VAR_004107 VAR_004107 disease phenotype-associated VAR_004107 phenoCommon Piebald trait (PBT) [MIM:172800] VAR_004108 commonName VAR_004108 VAR_004108 disease phenotype-associated VAR_004108 phenoCommon Piebald trait (PBT) [MIM:172800] VAR_004109 comment Mast cell leukemia VAR_004109 commonName VAR_004109 VAR_004111 commonName VAR_004111 VAR_004111 disease phenotype-associated VAR_004111 phenoCommon Pfeiffer syndrome (PS) [MIM:101600] VAR_004112 commonName VAR_004112 VAR_004112 disease phenotype-associated VAR_004112 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_004113 commonName VAR_004113 VAR_004113 disease phenotype-associated VAR_004113 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_004114 commonName VAR_004114 VAR_004114 disease phenotype-associated VAR_004114 phenoCommon Apert syndrome (APRS) [MIM:101200] VAR_004115 commonName VAR_004115 VAR_004115 disease phenotype-associated VAR_004115 phenoCommon Apert syndrome (APRS) [MIM:101200] VAR_004115 phenoCommon Pfeiffer syndrome (PS) [MIM:101600] VAR_004117 commonName VAR_004117 VAR_004117 disease phenotype-associated VAR_004117 phenoCommon Apert syndrome (APRS) [MIM:101200] VAR_004118 commonName VAR_004118 VAR_004118 disease phenotype-associated VAR_004118 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_004120 commonName VAR_004120 VAR_004120 disease phenotype-associated VAR_004120 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_004121 commonName VAR_004121 VAR_004121 disease phenotype-associated VAR_004121 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_004121 phenoCommon Jackson-Weiss syndrome (JWS) [MIM:123150] VAR_004121 phenoCommon Pfeiffer syndrome (PS) [MIM:101600] VAR_004123 commonName VAR_004123 VAR_004123 disease phenotype-associated VAR_004123 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_004123 phenoCommon Jackson-Weiss syndrome (JWS) [MIM:123150] VAR_004124 commonName VAR_004124 VAR_004124 disease phenotype-associated VAR_004124 phenoCommon Pfeiffer syndrome (PS) [MIM:101600] VAR_004125 commonName VAR_004125 VAR_004125 disease phenotype-associated VAR_004125 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_004126 commonName VAR_004126 VAR_004126 disease phenotype-associated VAR_004126 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_004127 commonName VAR_004127 VAR_004127 disease phenotype-associated VAR_004127 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_004128 commonName VAR_004128 VAR_004129 commonName VAR_004129 VAR_004129 disease phenotype-associated VAR_004129 phenoCommon Pfeiffer syndrome (PS) [MIM:101600] VAR_004130 commonName VAR_004130 VAR_004130 disease phenotype-associated VAR_004130 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_004131 commonName VAR_004131 VAR_004131 disease phenotype-associated VAR_004131 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_004133 commonName VAR_004133 VAR_004133 disease phenotype-associated VAR_004133 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_004134 commonName VAR_004134 VAR_004134 disease phenotype-associated VAR_004134 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_004135 commonName VAR_004135 VAR_004135 disease phenotype-associated VAR_004135 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_004135 phenoCommon Pfeiffer syndrome (PS) [MIM:101600] VAR_004136 commonName VAR_004136 VAR_004136 disease phenotype-associated VAR_004136 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_004137 commonName VAR_004137 VAR_004137 disease phenotype-associated VAR_004137 phenoCommon Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (ABS2) [MIM:207410] VAR_004137 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_004137 phenoCommon Jackson-Weiss syndrome (JWS) [MIM:123150] VAR_004137 phenoCommon Pfeiffer syndrome (PS) [MIM:101600] VAR_004138 commonName VAR_004138 VAR_004138 disease phenotype-associated VAR_004138 phenoCommon Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (ABS2) [MIM:207410] VAR_004138 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_004138 phenoCommon Jackson-Weiss syndrome (JWS) [MIM:123150] VAR_004138 phenoCommon Pfeiffer syndrome (PS) [MIM:101600] VAR_004139 commonName VAR_004139 VAR_004139 disease phenotype-associated VAR_004139 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_004139 phenoCommon Pfeiffer syndrome (PS) [MIM:101600] VAR_004140 commonName VAR_004140 VAR_004140 disease phenotype-associated VAR_004140 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_004140 phenoCommon Jackson-Weiss syndrome (JWS) [MIM:123150] VAR_004141 commonName VAR_004141 VAR_004141 disease phenotype-associated VAR_004141 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_004141 phenoCommon Pfeiffer syndrome (PS) [MIM:101600] VAR_004142 commonName VAR_004142 VAR_004142 disease phenotype-associated VAR_004142 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_004143 commonName VAR_004143 VAR_004143 disease phenotype-associated VAR_004143 phenoCommon Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (ABS2) [MIM:207410] VAR_004143 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_004143 phenoCommon Pfeiffer syndrome (PS) [MIM:101600] VAR_004144 commonName VAR_004144 VAR_004144 disease phenotype-associated VAR_004144 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_004146 commonName VAR_004146 VAR_004146 disease phenotype-associated VAR_004146 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_004146 phenoCommon Pfeiffer syndrome (PS) [MIM:101600] VAR_004147 commonName VAR_004147 VAR_004147 disease phenotype-associated VAR_004147 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_004148 commonName VAR_004148 VAR_004148 disease phenotype-associated VAR_004148 phenoCommon Bladder cancer (BLC) [MIM:109800] VAR_004148 phenoCommon Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900] VAR_004148 phenoCommon Keratosis seborrheic (KERSEB) [MIM:182000] VAR_004148 phenoCommon Thanatophoric dysplasia type 1 (TD1) [MIM:187600] VAR_004149 commonName VAR_004149 VAR_004149 disease phenotype-associated VAR_004149 phenoCommon Bladder cancer (BLC) [MIM:109800] VAR_004149 phenoCommon Cervical cancer (CERCA) [MIM:603956] VAR_004149 phenoCommon Keratosis seborrheic (KERSEB) [MIM:182000] VAR_004149 phenoCommon Thanatophoric dysplasia type 1 (TD1) [MIM:187600] VAR_004150 commonName VAR_004150 VAR_004150 disease phenotype-associated VAR_004150 phenoCommon Muenke syndrome (MNKS) [MIM:602849] VAR_004151 commonName VAR_004151 VAR_004151 disease phenotype-associated VAR_004151 phenoCommon Bladder cancer (BLC) [MIM:109800] VAR_004151 phenoCommon Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900] VAR_004151 phenoCommon Keratosis seborrheic (KERSEB) [MIM:182000] VAR_004151 phenoCommon Thanatophoric dysplasia type 1 (TD1) [MIM:187600] VAR_004152 commonName VAR_004152 VAR_004152 disease phenotype-associated VAR_004152 phenoCommon Keratosis seborrheic (KERSEB) [MIM:182000] VAR_004152 phenoCommon Thanatophoric dysplasia type 1 (TD1) [MIM:187600] VAR_004153 commonName VAR_004153 VAR_004153 disease phenotype-associated VAR_004153 phenoCommon Keratosis seborrheic (KERSEB) [MIM:182000] VAR_004153 phenoCommon Thanatophoric dysplasia type 1 (TD1) [MIM:187600] VAR_004154 commonName VAR_004154 VAR_004154 disease phenotype-associated VAR_004154 phenoCommon Achondroplasia (ACH) [MIM:100800] VAR_004155 commonName VAR_004155 VAR_004155 disease phenotype-associated VAR_004155 phenoCommon Achondroplasia (ACH) [MIM:100800] VAR_004155 phenoCommon Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900] VAR_004156 commonName VAR_004156 VAR_004156 disease phenotype-associated VAR_004156 phenoCommon Crouzon syndrome with acanthosis nigricans (CAN) [MIM:612247] VAR_004157 commonName VAR_004157 VAR_004157 disease phenotype-associated VAR_004157 phenoCommon Hypochondroplasia (HCH) [MIM:146000] VAR_004158 commonName VAR_004158 VAR_004158 disease phenotype-associated VAR_004158 phenoCommon Hypochondroplasia (HCH) [MIM:146000] VAR_004159 commonName VAR_004159 VAR_004159 disease phenotype-associated VAR_004159 phenoCommon Hypochondroplasia (HCH) [MIM:146000] VAR_004160 commonName VAR_004160 VAR_004160 disease phenotype-associated VAR_004160 phenoCommon Keratosis seborrheic (KERSEB) [MIM:182000] VAR_004160 phenoCommon Testicular germ cell tumor (TGCT) [MIM:273300] VAR_004160 phenoCommon Thanatophoric dysplasia type 2 (TD2) [MIM:187601] VAR_004161 commonName VAR_004161 VAR_004161 disease phenotype-associated VAR_004161 phenoCommon Achondroplasia (ACH) [MIM:100800] VAR_004161 phenoCommon Keratosis seborrheic (KERSEB) [MIM:182000] VAR_004161 phenoCommon Thanatophoric dysplasia type 1 (TD1) [MIM:187600] VAR_004163 commonName VAR_004163 VAR_004163 disease phenotype-associated VAR_004163 phenoCommon Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661] VAR_004164 commonName VAR_004164 VAR_004164 disease phenotype-associated VAR_004164 phenoCommon Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661] VAR_004165 commonName VAR_004165 VAR_004165 disease not phenotype-associated VAR_004166 commonName VAR_004166 VAR_004166 disease not phenotype-associated VAR_004167 commonName VAR_004167 VAR_004167 disease not phenotype-associated VAR_004168 commonName VAR_004168 VAR_004168 disease not phenotype-associated VAR_004169 commonName VAR_004169 VAR_004169 disease not phenotype-associated VAR_004170 commonName VAR_004170 VAR_004170 disease phenotype-associated VAR_004170 phenoCommon Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650] VAR_004171 commonName VAR_004171 VAR_004171 disease phenotype-associated VAR_004171 phenoCommon Epidermolysis bullosa junctional Herlitz type (H-JEB) [MIM:226700] VAR_004172 commonName VAR_004172 VAR_004172 disease phenotype-associated VAR_004172 phenoCommon Hyperalphalipoproteinemia type 1 (HALP1) [MIM:143470] VAR_004173 commonName VAR_004173 VAR_004174 commonName VAR_004174 VAR_004175 commonName VAR_004175 VAR_004176 commonName VAR_004176 VAR_004177 commonName VAR_004177 VAR_004178 commonName VAR_004178 VAR_004179 commonName VAR_004179 VAR_004180 commonName VAR_004180 VAR_004180 disease not phenotype-associated VAR_004181 commonName VAR_004181 VAR_004181 disease not phenotype-associated VAR_004182 commonName VAR_004182 VAR_004182 disease not phenotype-associated VAR_004183 commonName VAR_004183 VAR_004183 disease not phenotype-associated VAR_004184 commonName VAR_004184 VAR_004184 disease not phenotype-associated VAR_004189 commonName VAR_004189 VAR_004189 disease not phenotype-associated VAR_004190 commonName VAR_004190 VAR_004190 disease not phenotype-associated VAR_004191 commonName VAR_004191 VAR_004191 disease not phenotype-associated VAR_004197 commonName VAR_004197 VAR_004197 disease not phenotype-associated VAR_004198 commonName VAR_004198 VAR_004198 disease phenotype-associated VAR_004198 phenoCommon Nail-patella syndrome (NPS) [MIM:161200] VAR_004199 commonName VAR_004199 VAR_004199 disease phenotype-associated VAR_004199 phenoCommon Nail-patella syndrome (NPS) [MIM:161200] VAR_004200 commonName VAR_004200 VAR_004200 disease phenotype-associated VAR_004200 phenoCommon Nail-patella syndrome (NPS) [MIM:161200] VAR_004201 commonName VAR_004201 VAR_004201 disease phenotype-associated VAR_004201 phenoCommon Nail-patella syndrome (NPS) [MIM:161200] VAR_004202 commonName VAR_004202 VAR_004202 disease phenotype-associated VAR_004202 phenoCommon Nail-patella syndrome (NPS) [MIM:161200] VAR_004203 commonName VAR_004203 VAR_004203 disease phenotype-associated VAR_004203 phenoCommon Nail-patella syndrome (NPS) [MIM:161200] VAR_004204 commonName VAR_004204 VAR_004204 disease phenotype-associated VAR_004204 phenoCommon Nail-patella syndrome (NPS) [MIM:161200] VAR_004205 commonName VAR_004205 VAR_004205 disease phenotype-associated VAR_004205 phenoCommon Nail-patella syndrome (NPS) [MIM:161200] VAR_004206 commonName VAR_004206 VAR_004206 disease not phenotype-associated VAR_004208 commonName VAR_004208 VAR_004208 disease not phenotype-associated VAR_004209 commonName VAR_004209 VAR_004209 disease phenotype-associated VAR_004209 phenoCommon Hepatic lipase deficiency (HL deficiency) [MIM:614025] VAR_004210 commonName VAR_004210 VAR_004210 disease phenotype-associated VAR_004210 phenoCommon Hepatic lipase deficiency (HL deficiency) [MIM:614025] VAR_004211 commonName VAR_004211 VAR_004211 disease phenotype-associated VAR_004211 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004212 commonName VAR_004212 VAR_004212 disease phenotype-associated VAR_004212 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004213 commonName VAR_004213 VAR_004213 disease phenotype-associated VAR_004213 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004214 commonName VAR_004214 VAR_004214 disease phenotype-associated VAR_004214 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004215 commonName VAR_004215 VAR_004215 disease phenotype-associated VAR_004215 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004216 commonName VAR_004216 VAR_004216 disease phenotype-associated VAR_004216 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004217 commonName VAR_004217 VAR_004217 disease phenotype-associated VAR_004217 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004218 commonName VAR_004218 VAR_004218 disease phenotype-associated VAR_004218 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004219 commonName VAR_004219 VAR_004219 disease phenotype-associated VAR_004219 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004220 commonName VAR_004220 VAR_004220 disease phenotype-associated VAR_004220 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004221 commonName VAR_004221 VAR_004221 disease phenotype-associated VAR_004221 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004222 commonName VAR_004222 VAR_004222 disease phenotype-associated VAR_004222 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004223 commonName VAR_004223 VAR_004223 disease phenotype-associated VAR_004223 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004224 commonName VAR_004224 VAR_004224 disease phenotype-associated VAR_004224 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004225 commonName VAR_004225 VAR_004225 disease phenotype-associated VAR_004225 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004226 commonName VAR_004226 VAR_004226 disease phenotype-associated VAR_004226 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004227 commonName VAR_004227 VAR_004227 disease phenotype-associated VAR_004227 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004228 commonName VAR_004228 VAR_004228 disease phenotype-associated VAR_004228 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004229 commonName VAR_004229 VAR_004229 disease phenotype-associated VAR_004229 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004230 commonName VAR_004230 VAR_004230 disease phenotype-associated VAR_004230 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004231 commonName VAR_004231 VAR_004231 disease phenotype-associated VAR_004231 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004232 commonName VAR_004232 VAR_004232 disease phenotype-associated VAR_004232 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004233 commonName VAR_004233 VAR_004233 disease phenotype-associated VAR_004233 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004234 commonName VAR_004234 VAR_004234 disease phenotype-associated VAR_004234 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004235 commonName VAR_004235 VAR_004235 disease phenotype-associated VAR_004235 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004236 commonName VAR_004236 VAR_004236 disease phenotype-associated VAR_004236 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004237 commonName VAR_004237 VAR_004237 disease phenotype-associated VAR_004237 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004238 commonName VAR_004238 VAR_004238 disease phenotype-associated VAR_004238 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004239 commonName VAR_004239 VAR_004239 disease phenotype-associated VAR_004239 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004240 commonName VAR_004240 VAR_004240 disease phenotype-associated VAR_004240 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004241 commonName VAR_004241 VAR_004241 disease phenotype-associated VAR_004241 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004242 commonName VAR_004242 VAR_004242 disease phenotype-associated VAR_004242 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004243 commonName VAR_004243 VAR_004243 disease phenotype-associated VAR_004243 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004245 commonName VAR_004245 VAR_004245 disease phenotype-associated VAR_004245 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004246 commonName VAR_004246 VAR_004246 disease phenotype-associated VAR_004246 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_004247 commonName VAR_004247 VAR_004247 disease not phenotype-associated VAR_004248 commonName VAR_004248 VAR_004248 disease phenotype-associated VAR_004248 phenoCommon Cholesteryl ester storage disease (CESD) [MIM:278000] VAR_004249 commonName VAR_004249 VAR_004249 disease phenotype-associated VAR_004249 phenoCommon Cholesteryl ester storage disease (CESD) [MIM:278000] VAR_004250 commonName VAR_004250 VAR_004250 disease phenotype-associated VAR_004250 phenoCommon Cholesteryl ester storage disease (CESD) [MIM:278000] VAR_004250 phenoCommon Wolman disease (WOD) [MIM:278000] VAR_004252 commonName VAR_004252 VAR_004252 disease phenotype-associated VAR_004252 phenoCommon Fish-eye disease (FED) [MIM:136120] VAR_004253 commonName VAR_004253 VAR_004253 disease phenotype-associated VAR_004253 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] VAR_004254 commonName VAR_004254 VAR_004254 disease phenotype-associated VAR_004254 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] VAR_004255 commonName VAR_004255 VAR_004255 disease phenotype-associated VAR_004255 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] VAR_004256 commonName VAR_004256 VAR_004256 disease phenotype-associated VAR_004256 phenoCommon Fish-eye disease (FED) [MIM:136120] VAR_004257 commonName VAR_004257 VAR_004257 disease phenotype-associated VAR_004257 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] VAR_004258 commonName VAR_004258 VAR_004258 disease phenotype-associated VAR_004258 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] VAR_004259 commonName VAR_004259 VAR_004259 disease phenotype-associated VAR_004259 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] VAR_004260 commonName VAR_004260 VAR_004260 disease phenotype-associated VAR_004260 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] VAR_004261 commonName VAR_004261 VAR_004261 disease not phenotype-associated VAR_004262 commonName VAR_004262 VAR_004262 disease phenotype-associated VAR_004262 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] VAR_004263 commonName VAR_004263 VAR_004263 disease phenotype-associated VAR_004263 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] VAR_004264 commonName VAR_004264 VAR_004264 disease phenotype-associated VAR_004264 phenoCommon Fish-eye disease (FED) [MIM:136120] VAR_004265 commonName VAR_004265 VAR_004265 disease phenotype-associated VAR_004265 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] VAR_004266 commonName VAR_004266 VAR_004266 disease phenotype-associated VAR_004266 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] VAR_004267 commonName VAR_004267 VAR_004267 disease phenotype-associated VAR_004267 phenoCommon Fish-eye disease (FED) [MIM:136120] VAR_004268 commonName VAR_004268 VAR_004268 disease phenotype-associated VAR_004268 phenoCommon Platelet-activating factor acetylhydrolase deficiency (PAFAD) [MIM:614278] VAR_004273 commonName VAR_004273 VAR_004273 disease not phenotype-associated VAR_004279 commonName VAR_004279 VAR_004279 disease not phenotype-associated VAR_004280 commonName VAR_004280 VAR_004280 disease phenotype-associated VAR_004280 phenoCommon Amyloidosis type 8 (AMYL8) [MIM:105200] VAR_004281 commonName VAR_004281 VAR_004281 disease phenotype-associated VAR_004281 phenoCommon Amyloidosis type 8 (AMYL8) [MIM:105200] VAR_004282 commonName VAR_004282 VAR_004282 disease not phenotype-associated VAR_004283 commonName VAR_004283 VAR_004283 disease not phenotype-associated VAR_004284 commonName VAR_004284 VAR_004284 disease not phenotype-associated VAR_004285 commonName VAR_004285 VAR_004285 disease not phenotype-associated VAR_004286 commonName VAR_004286 VAR_004286 disease not phenotype-associated VAR_004287 commonName VAR_004287 VAR_004287 disease not phenotype-associated VAR_004288 commonName VAR_004288 VAR_004288 disease phenotype-associated VAR_004288 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_004289 commonName VAR_004289 VAR_004289 disease phenotype-associated VAR_004289 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_004290 commonName VAR_004290 VAR_004290 disease phenotype-associated VAR_004290 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_004291 commonName VAR_004291 VAR_004291 disease phenotype-associated VAR_004291 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_004292 commonName VAR_004292 VAR_004292 disease phenotype-associated VAR_004292 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_004293 commonName VAR_004293 VAR_004293 disease phenotype-associated VAR_004293 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_004294 commonName VAR_004294 VAR_004294 disease phenotype-associated VAR_004294 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_004295 commonName VAR_004295 VAR_004295 disease phenotype-associated VAR_004295 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_004296 commonName VAR_004296 VAR_004296 disease phenotype-associated VAR_004296 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_004297 commonName VAR_004297 VAR_004297 disease phenotype-associated VAR_004297 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_004298 commonName VAR_004298 VAR_004298 disease phenotype-associated VAR_004298 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_004299 commonName VAR_004299 VAR_004299 disease not phenotype-associated VAR_004300 commonName VAR_004300 VAR_004300 disease not phenotype-associated VAR_004301 commonName VAR_004301 VAR_004301 disease phenotype-associated VAR_004301 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_004302 commonName VAR_004302 VAR_004302 disease phenotype-associated VAR_004302 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_004303 commonName VAR_004303 VAR_004303 disease phenotype-associated VAR_004303 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_004304 commonName VAR_004304 VAR_004304 disease phenotype-associated VAR_004304 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_004305 commonName VAR_004305 VAR_004305 disease phenotype-associated VAR_004305 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_004306 commonName VAR_004306 VAR_004306 disease phenotype-associated VAR_004306 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_004307 commonName VAR_004307 VAR_004307 disease phenotype-associated VAR_004307 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_004308 commonName VAR_004308 VAR_004308 disease phenotype-associated VAR_004308 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_004309 commonName VAR_004309 VAR_004309 disease not phenotype-associated VAR_004310 commonName VAR_004310 VAR_004310 disease phenotype-associated VAR_004310 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_004311 commonName VAR_004311 VAR_004311 disease not phenotype-associated VAR_004312 commonName VAR_004312 VAR_004312 disease phenotype-associated VAR_004312 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_004313 commonName VAR_004313 VAR_004313 disease not phenotype-associated VAR_004314 commonName VAR_004314 VAR_004314 disease not phenotype-associated VAR_004317 commonName VAR_004317 VAR_004317 disease not phenotype-associated VAR_004318 commonName VAR_004318 VAR_004318 disease phenotype-associated VAR_004318 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_004319 commonName VAR_004319 VAR_004319 disease phenotype-associated VAR_004319 phenoCommon Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250] VAR_004320 commonName VAR_004320 VAR_004320 disease phenotype-associated VAR_004320 phenoCommon Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250] VAR_004321 commonName VAR_004321 VAR_004321 disease phenotype-associated VAR_004321 phenoCommon Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250] VAR_004322 commonName VAR_004322 VAR_004322 disease phenotype-associated VAR_004322 phenoCommon Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250] VAR_004323 commonName VAR_004323 VAR_004323 disease phenotype-associated VAR_004323 phenoCommon Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250] VAR_004324 commonName VAR_004324 VAR_004324 disease phenotype-associated VAR_004324 phenoCommon Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250] VAR_004325 commonName VAR_004325 VAR_004325 disease phenotype-associated VAR_004325 phenoCommon Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250] VAR_004326 commonName VAR_004326 VAR_004326 disease not phenotype-associated VAR_004327 commonName VAR_004327 VAR_004327 disease not phenotype-associated VAR_004396 commonName VAR_004396 VAR_004396 disease not phenotype-associated VAR_004397 commonName VAR_004397 VAR_004397 disease phenotype-associated VAR_004397 phenoCommon Hemochromatosis (HFE) [MIM:235200] VAR_004398 commonName VAR_004398 VAR_004398 disease phenotype-associated VAR_004398 phenoCommon Hemochromatosis (HFE) [MIM:235200] VAR_004400 commonName VAR_004400 VAR_004400 disease not phenotype-associated VAR_004401 commonName VAR_004401 VAR_004401 disease phenotype-associated VAR_004401 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] VAR_004402 commonName VAR_004402 VAR_004402 disease phenotype-associated VAR_004402 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] VAR_004403 commonName VAR_004403 VAR_004403 disease phenotype-associated VAR_004403 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] VAR_004404 commonName VAR_004404 VAR_004404 disease phenotype-associated VAR_004404 phenoCommon Prolidase deficiency (PD) [MIM:170100] VAR_004405 commonName VAR_004405 VAR_004405 disease phenotype-associated VAR_004405 phenoCommon Prolidase deficiency (PD) [MIM:170100] VAR_004407 commonName VAR_004407 VAR_004407 disease not phenotype-associated VAR_004408 commonName VAR_004408 VAR_004408 disease phenotype-associated VAR_004408 phenoCommon Obesity (OBESITY) [MIM:601665] VAR_004409 commonName VAR_004409 VAR_004409 disease phenotype-associated VAR_004409 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_004410 commonName VAR_004410 VAR_004410 disease phenotype-associated VAR_004410 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_004411 commonName VAR_004411 VAR_004411 disease phenotype-associated VAR_004411 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_004412 commonName VAR_004412 VAR_004412 disease phenotype-associated VAR_004412 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_004413 commonName VAR_004413 VAR_004413 disease phenotype-associated VAR_004413 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_004414 commonName VAR_004414 VAR_004414 disease phenotype-associated VAR_004414 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_004416 commonName VAR_004416 VAR_004416 disease phenotype-associated VAR_004416 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_004417 commonName VAR_004417 VAR_004417 disease phenotype-associated VAR_004417 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_004418 commonName VAR_004418 VAR_004418 disease phenotype-associated VAR_004418 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_004419 commonName VAR_004419 VAR_004419 disease not phenotype-associated VAR_004420 commonName VAR_004420 VAR_004420 disease phenotype-associated VAR_004420 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_004421 commonName VAR_004421 VAR_004421 disease phenotype-associated VAR_004421 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_004422 commonName VAR_004422 VAR_004422 disease phenotype-associated VAR_004422 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_004423 commonName VAR_004423 VAR_004423 disease phenotype-associated VAR_004423 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_004424 commonName VAR_004424 VAR_004424 disease phenotype-associated VAR_004424 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_004425 commonName VAR_004425 VAR_004425 disease phenotype-associated VAR_004425 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_004426 commonName VAR_004426 VAR_004426 disease not phenotype-associated VAR_004427 commonName VAR_004427 VAR_004427 disease phenotype-associated VAR_004427 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_004429 commonName VAR_004429 VAR_004429 disease phenotype-associated VAR_004429 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_004430 commonName VAR_004430 VAR_004430 disease phenotype-associated VAR_004430 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_004431 commonName VAR_004431 VAR_004431 disease phenotype-associated VAR_004431 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_004432 commonName VAR_004432 VAR_004432 disease phenotype-associated VAR_004432 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_004433 commonName VAR_004433 VAR_004433 disease phenotype-associated VAR_004433 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_004434 commonName VAR_004434 VAR_004434 disease phenotype-associated VAR_004434 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_004436 commonName VAR_004436 VAR_004436 disease phenotype-associated VAR_004436 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_004437 commonName VAR_004437 VAR_004437 disease phenotype-associated VAR_004437 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_004438 commonName VAR_004438 VAR_004438 disease phenotype-associated VAR_004438 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_004439 commonName VAR_004439 VAR_004439 disease phenotype-associated VAR_004439 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_004440 commonName VAR_004440 VAR_004440 disease phenotype-associated VAR_004440 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_004441 commonName VAR_004441 VAR_004441 disease phenotype-associated VAR_004441 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_004442 commonName VAR_004442 VAR_004442 disease phenotype-associated VAR_004442 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_004443 commonName VAR_004443 VAR_004443 disease not phenotype-associated VAR_004444 commonName VAR_004444 VAR_004444 disease phenotype-associated VAR_004444 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_004445 commonName VAR_004445 VAR_004445 disease phenotype-associated VAR_004445 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_004446 commonName VAR_004446 VAR_004446 disease phenotype-associated VAR_004446 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_004447 commonName VAR_004447 VAR_004447 disease phenotype-associated VAR_004447 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_004448 commonName VAR_004448 VAR_004448 disease phenotype-associated VAR_004448 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_004449 commonName VAR_004449 VAR_004450 commonName VAR_004450 VAR_004450 disease not phenotype-associated VAR_004451 commonName VAR_004451 VAR_004451 disease phenotype-associated VAR_004451 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_004453 commonName VAR_004453 VAR_004453 disease phenotype-associated VAR_004453 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_004454 commonName VAR_004454 VAR_004455 commonName VAR_004455 VAR_004455 disease phenotype-associated VAR_004455 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_004456 commonName VAR_004456 VAR_004456 disease phenotype-associated VAR_004456 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_004457 commonName VAR_004457 VAR_004457 disease phenotype-associated VAR_004457 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_004458 commonName VAR_004458 VAR_004458 disease phenotype-associated VAR_004458 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_004459 commonName VAR_004459 VAR_004459 disease phenotype-associated VAR_004459 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_004460 commonName VAR_004460 VAR_004460 disease phenotype-associated VAR_004460 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_004462 commonName VAR_004462 VAR_004462 disease not phenotype-associated VAR_004463 commonName VAR_004463 VAR_004463 disease phenotype-associated VAR_004463 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_004465 commonName VAR_004465 VAR_004465 disease phenotype-associated VAR_004465 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_004466 commonName VAR_004466 VAR_004469 commonName VAR_004469 VAR_004469 disease not phenotype-associated VAR_004470 commonName VAR_004470 VAR_004470 disease phenotype-associated VAR_004470 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_004471 commonName VAR_004471 VAR_004471 disease not phenotype-associated VAR_004472 commonName VAR_004472 VAR_004472 disease phenotype-associated VAR_004472 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_004473 commonName VAR_004473 VAR_004473 disease phenotype-associated VAR_004473 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_004474 commonName VAR_004474 VAR_004474 disease phenotype-associated VAR_004474 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_004476 commonName VAR_004476 VAR_004476 disease phenotype-associated VAR_004476 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_004477 commonName VAR_004477 VAR_004477 disease not phenotype-associated VAR_004478 commonName VAR_004478 VAR_004479 commonName VAR_004479 VAR_004479 disease phenotype-associated VAR_004479 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_004480 commonName VAR_004480 VAR_004480 disease phenotype-associated VAR_004480 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_004482 commonName VAR_004482 VAR_004482 disease phenotype-associated VAR_004482 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_004483 commonName VAR_004483 VAR_004483 disease phenotype-associated VAR_004483 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_004484 commonName VAR_004484 VAR_004484 disease not phenotype-associated VAR_004485 commonName VAR_004485 VAR_004485 disease phenotype-associated VAR_004485 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_004486 commonName VAR_004486 VAR_004486 disease phenotype-associated VAR_004486 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_004490 commonName VAR_004490 VAR_004490 disease not phenotype-associated VAR_004493 commonName VAR_004493 VAR_004493 disease phenotype-associated VAR_004493 phenoCommon Centronuclear myopathy type 3 (CNM3) [MIM:614408] VAR_004494 commonName VAR_004494 VAR_004494 disease phenotype-associated VAR_004494 phenoCommon Centronuclear myopathy type 3 (CNM3) [MIM:614408] VAR_004495 commonName VAR_004495 VAR_004495 disease phenotype-associated VAR_004495 phenoCommon Saethre-Chotzen syndrome (SCS) [MIM:101400] VAR_004496 commonName VAR_004496 VAR_004496 disease phenotype-associated VAR_004496 phenoCommon Saethre-Chotzen syndrome (SCS) [MIM:101400] VAR_004499 commonName VAR_004499 VAR_004499 disease phenotype-associated VAR_004499 phenoCommon Prostate cancer (PC) [MIM:176807] VAR_004500 commonName VAR_004500 VAR_004500 disease phenotype-associated VAR_004500 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004501 commonName VAR_004501 VAR_004501 disease phenotype-associated VAR_004501 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004502 commonName VAR_004502 VAR_004502 disease phenotype-associated VAR_004502 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004503 commonName VAR_004503 VAR_004503 disease phenotype-associated VAR_004503 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004503 phenoCommon Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677] VAR_004504 commonName VAR_004504 VAR_004504 disease phenotype-associated VAR_004504 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004505 commonName VAR_004505 VAR_004505 disease phenotype-associated VAR_004505 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004506 commonName VAR_004506 VAR_004506 disease phenotype-associated VAR_004506 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004508 commonName VAR_004508 VAR_004508 disease phenotype-associated VAR_004508 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_004509 commonName VAR_004509 VAR_004509 disease phenotype-associated VAR_004509 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004511 commonName VAR_004511 VAR_004511 disease phenotype-associated VAR_004511 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004512 commonName VAR_004512 VAR_004512 disease phenotype-associated VAR_004512 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004513 commonName VAR_004513 VAR_004513 disease phenotype-associated VAR_004513 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004514 commonName VAR_004514 VAR_004514 disease phenotype-associated VAR_004514 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004514 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_004515 commonName VAR_004515 VAR_004515 disease phenotype-associated VAR_004515 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004516 commonName VAR_004516 VAR_004516 disease phenotype-associated VAR_004516 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004517 commonName VAR_004517 VAR_004517 disease phenotype-associated VAR_004517 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004518 commonName VAR_004518 VAR_004518 disease phenotype-associated VAR_004518 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004519 commonName VAR_004519 VAR_004519 disease phenotype-associated VAR_004519 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004520 commonName VAR_004520 VAR_004520 disease phenotype-associated VAR_004520 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004521 commonName VAR_004521 VAR_004521 disease phenotype-associated VAR_004521 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004522 commonName VAR_004522 VAR_004522 disease phenotype-associated VAR_004522 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004523 commonName VAR_004523 VAR_004523 disease phenotype-associated VAR_004523 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004524 commonName VAR_004524 VAR_004524 disease phenotype-associated VAR_004524 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004525 commonName VAR_004525 VAR_004525 disease phenotype-associated VAR_004525 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_004526 commonName VAR_004526 VAR_004526 disease phenotype-associated VAR_004526 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_004528 commonName VAR_004528 VAR_004528 disease phenotype-associated VAR_004528 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004529 commonName VAR_004529 VAR_004529 disease phenotype-associated VAR_004529 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004529 phenoCommon Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736] VAR_004531 commonName VAR_004531 VAR_004531 disease phenotype-associated VAR_004531 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_004532 commonName VAR_004532 VAR_004532 disease phenotype-associated VAR_004532 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004533 commonName VAR_004533 VAR_004533 disease phenotype-associated VAR_004533 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_004534 commonName VAR_004534 VAR_004534 disease phenotype-associated VAR_004534 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004534 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_004535 commonName VAR_004535 VAR_004535 disease phenotype-associated VAR_004535 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004536 commonName VAR_004536 VAR_004536 disease phenotype-associated VAR_004536 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004537 commonName VAR_004537 VAR_004537 disease phenotype-associated VAR_004537 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004538 commonName VAR_004538 VAR_004538 disease phenotype-associated VAR_004538 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004538 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_004539 commonName VAR_004539 VAR_004539 disease phenotype-associated VAR_004539 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004540 commonName VAR_004540 VAR_004540 disease phenotype-associated VAR_004540 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004541 commonName VAR_004541 VAR_004541 disease phenotype-associated VAR_004541 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004542 commonName VAR_004542 VAR_004542 disease phenotype-associated VAR_004542 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004543 commonName VAR_004543 VAR_004543 disease phenotype-associated VAR_004543 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_004543 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_004544 commonName VAR_004544 VAR_004544 disease phenotype-associated VAR_004544 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_004545 commonName VAR_004545 VAR_004545 disease not phenotype-associated VAR_004546 commonName VAR_004546 VAR_004546 disease phenotype-associated VAR_004546 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] VAR_004547 commonName VAR_004547 VAR_004547 disease phenotype-associated VAR_004547 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] VAR_004548 commonName VAR_004548 VAR_004548 disease phenotype-associated VAR_004548 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] VAR_004551 commonName VAR_004551 VAR_004551 disease phenotype-associated VAR_004551 phenoCommon Spastic paraplegia X-linked type 2 (SPG2) [MIM:312920] VAR_004552 commonName VAR_004552 VAR_004552 disease phenotype-associated VAR_004552 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] VAR_004553 commonName VAR_004553 VAR_004553 disease phenotype-associated VAR_004553 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] VAR_004566 commonName VAR_004566 VAR_004566 disease phenotype-associated VAR_004566 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_004567 commonName VAR_004567 VAR_004567 disease phenotype-associated VAR_004567 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_004568 commonName VAR_004568 VAR_004568 disease phenotype-associated VAR_004568 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_004569 commonName VAR_004569 VAR_004569 disease phenotype-associated VAR_004569 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_004570 commonName VAR_004570 VAR_004570 disease phenotype-associated VAR_004570 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_004571 commonName VAR_004571 VAR_004571 disease phenotype-associated VAR_004571 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_004572 commonName VAR_004572 VAR_004572 disease phenotype-associated VAR_004572 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_004573 commonName VAR_004573 VAR_004573 disease phenotype-associated VAR_004573 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_004574 commonName VAR_004574 VAR_004574 disease phenotype-associated VAR_004574 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_004575 commonName VAR_004575 VAR_004575 disease phenotype-associated VAR_004575 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_004576 commonName VAR_004576 VAR_004576 disease phenotype-associated VAR_004576 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_004577 commonName VAR_004577 VAR_004577 disease phenotype-associated VAR_004577 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_004578 commonName VAR_004578 VAR_004578 disease phenotype-associated VAR_004578 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_004579 commonName VAR_004579 VAR_004579 disease phenotype-associated VAR_004579 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_004580 commonName VAR_004580 VAR_004580 disease phenotype-associated VAR_004580 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_004581 commonName VAR_004581 VAR_004581 disease phenotype-associated VAR_004581 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_004582 commonName VAR_004582 VAR_004582 disease phenotype-associated VAR_004582 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_004583 commonName VAR_004583 VAR_004583 disease phenotype-associated VAR_004583 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_004584 commonName VAR_004584 VAR_004584 disease phenotype-associated VAR_004584 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_004585 commonName VAR_004585 VAR_004585 disease phenotype-associated VAR_004585 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_004586 commonName VAR_004586 VAR_004586 disease phenotype-associated VAR_004586 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_004587 commonName VAR_004587 VAR_004587 disease phenotype-associated VAR_004587 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_004588 commonName VAR_004588 VAR_004588 disease phenotype-associated VAR_004588 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_004589 commonName VAR_004589 VAR_004589 disease phenotype-associated VAR_004589 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_004590 commonName VAR_004590 VAR_004590 disease phenotype-associated VAR_004590 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_004591 commonName VAR_004591 VAR_004591 disease phenotype-associated VAR_004591 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_004592 commonName VAR_004592 VAR_004592 disease phenotype-associated VAR_004592 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_004593 commonName VAR_004593 VAR_004593 disease phenotype-associated VAR_004593 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_004594 commonName VAR_004594 VAR_004594 disease phenotype-associated VAR_004594 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_004595 commonName VAR_004595 VAR_004595 disease phenotype-associated VAR_004595 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_004597 commonName VAR_004597 VAR_004597 disease phenotype-associated VAR_004597 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_004598 commonName VAR_004598 VAR_004598 disease phenotype-associated VAR_004598 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_004599 commonName VAR_004599 VAR_004599 disease phenotype-associated VAR_004599 phenoCommon Familial hypertrophic cardiomyopathy type 8 (CMH8) [MIM:608751] VAR_004600 commonName VAR_004600 VAR_004600 disease phenotype-associated VAR_004600 phenoCommon Familial hypertrophic cardiomyopathy type 8 (CMH8) [MIM:608751] VAR_004601 commonName VAR_004601 VAR_004601 disease phenotype-associated VAR_004601 phenoCommon Familial hypertrophic cardiomyopathy type 10 (CMH10) [MIM:608758] VAR_004602 commonName VAR_004602 VAR_004602 disease phenotype-associated VAR_004602 phenoCommon Familial hypertrophic cardiomyopathy type 10 (CMH10) [MIM:608758] VAR_004603 commonName VAR_004603 VAR_004603 disease phenotype-associated VAR_004603 phenoCommon Familial hypertrophic cardiomyopathy type 10 (CMH10) [MIM:608758] VAR_004604 commonName VAR_004604 VAR_004604 disease phenotype-associated VAR_004604 phenoCommon Familial hypertrophic cardiomyopathy type 10 (CMH10) [MIM:608758] VAR_004605 commonName VAR_004605 VAR_004605 disease phenotype-associated VAR_004605 phenoCommon Familial hypertrophic cardiomyopathy type 10 (CMH10) [MIM:608758] VAR_004606 commonName VAR_004606 VAR_004606 disease not phenotype-associated VAR_004607 commonName VAR_004607 VAR_004607 disease not phenotype-associated VAR_004613 commonName VAR_004613 VAR_004613 disease not phenotype-associated VAR_004614 commonName VAR_004614 VAR_004614 disease phenotype-associated VAR_004614 phenoCommon Primary bile acid malabsorption (PBAM) [MIM:613291] VAR_004615 commonName VAR_004615 VAR_004615 disease phenotype-associated VAR_004615 phenoCommon Primary bile acid malabsorption (PBAM) [MIM:613291] VAR_004616 commonName VAR_004616 VAR_004616 disease not phenotype-associated VAR_004619 commonName VAR_004619 VAR_004619 disease phenotype-associated VAR_004619 phenoCommon Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800] VAR_004620 commonName VAR_004620 VAR_004620 disease phenotype-associated VAR_004620 phenoCommon Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800] VAR_004621 commonName VAR_004621 VAR_004621 disease phenotype-associated VAR_004621 phenoCommon Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800] VAR_004622 commonName VAR_004622 VAR_004622 disease phenotype-associated VAR_004622 phenoCommon Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800] VAR_004624 commonName VAR_004624 VAR_004624 disease not phenotype-associated VAR_004625 commonName VAR_004625 VAR_004626 commonName VAR_004626 VAR_004626 disease not phenotype-associated VAR_004629 commonName VAR_004629 VAR_004629 disease not phenotype-associated VAR_004630 commonName VAR_004630 VAR_004630 disease not phenotype-associated VAR_004632 commonName VAR_004632 VAR_004632 disease phenotype-associated VAR_004632 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570] VAR_004633 commonName VAR_004633 VAR_004633 disease phenotype-associated VAR_004633 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570] VAR_004634 commonName VAR_004634 VAR_004634 disease phenotype-associated VAR_004634 phenoCommon Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650] VAR_004635 commonName VAR_004635 VAR_004635 disease phenotype-associated VAR_004635 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570] VAR_004636 commonName VAR_004636 VAR_004636 disease phenotype-associated VAR_004636 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570] VAR_004637 commonName VAR_004637 VAR_004637 disease phenotype-associated VAR_004637 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570] VAR_004638 commonName VAR_004638 VAR_004638 disease phenotype-associated VAR_004638 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570] VAR_004640 commonName VAR_004640 VAR_004640 disease phenotype-associated VAR_004640 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570] VAR_004641 commonName VAR_004641 VAR_004641 disease phenotype-associated VAR_004641 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570] VAR_004642 commonName VAR_004642 VAR_004642 disease phenotype-associated VAR_004642 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570] VAR_004643 commonName VAR_004643 VAR_004643 disease phenotype-associated VAR_004643 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570] VAR_004644 commonName VAR_004644 VAR_004644 disease phenotype-associated VAR_004644 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570] VAR_004645 commonName VAR_004645 VAR_004645 disease phenotype-associated VAR_004645 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570] VAR_004646 commonName VAR_004646 VAR_004646 disease phenotype-associated VAR_004646 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570] VAR_004647 commonName VAR_004647 VAR_004647 disease phenotype-associated VAR_004647 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570] VAR_004648 commonName VAR_004648 VAR_004648 disease phenotype-associated VAR_004648 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570] VAR_004649 commonName VAR_004649 VAR_004649 disease phenotype-associated VAR_004649 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570] VAR_004650 commonName VAR_004650 VAR_004650 disease phenotype-associated VAR_004650 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570] VAR_004651 commonName VAR_004651 VAR_004651 disease phenotype-associated VAR_004651 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570] VAR_004652 commonName VAR_004652 VAR_004652 disease phenotype-associated VAR_004652 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570] VAR_004653 commonName VAR_004653 VAR_004653 disease phenotype-associated VAR_004653 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570] VAR_004654 commonName VAR_004654 VAR_004654 disease phenotype-associated VAR_004654 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570] VAR_004655 commonName VAR_004655 VAR_004655 disease phenotype-associated VAR_004655 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570] VAR_004656 commonName VAR_004656 VAR_004656 disease phenotype-associated VAR_004656 phenoCommon Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440] VAR_004657 commonName VAR_004657 VAR_004657 disease phenotype-associated VAR_004657 phenoCommon Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440] VAR_004658 commonName VAR_004658 VAR_004658 disease phenotype-associated VAR_004658 phenoCommon Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440] VAR_004659 commonName VAR_004659 VAR_004659 disease phenotype-associated VAR_004659 phenoCommon Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440] VAR_004660 commonName VAR_004660 VAR_004660 disease phenotype-associated VAR_004660 phenoCommon Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440] VAR_004661 commonName VAR_004661 VAR_004661 disease phenotype-associated VAR_004661 phenoCommon Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440] VAR_004662 commonName VAR_004662 VAR_004662 disease phenotype-associated VAR_004662 phenoCommon Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440] VAR_004663 commonName VAR_004663 VAR_004663 disease phenotype-associated VAR_004663 phenoCommon Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440] VAR_004664 commonName VAR_004664 VAR_004664 disease phenotype-associated VAR_004664 phenoCommon Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440] VAR_004665 commonName VAR_004665 VAR_004665 disease phenotype-associated VAR_004665 phenoCommon Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440] VAR_004666 commonName VAR_004666 VAR_004666 disease phenotype-associated VAR_004666 phenoCommon Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440] VAR_004667 commonName VAR_004667 VAR_004667 disease phenotype-associated VAR_004667 phenoCommon Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440] VAR_004668 commonName VAR_004668 VAR_004668 disease phenotype-associated VAR_004668 phenoCommon Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850] VAR_004669 commonName VAR_004669 VAR_004669 disease not phenotype-associated VAR_004670 commonName VAR_004670 VAR_004670 disease phenotype-associated VAR_004670 phenoCommon Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850] VAR_004671 commonName VAR_004671 VAR_004671 disease not phenotype-associated VAR_004672 commonName VAR_004672 VAR_004673 commonName VAR_004673 VAR_004675 commonName VAR_004675 VAR_004675 disease not phenotype-associated VAR_004737 commonName VAR_004737 VAR_004737 disease phenotype-associated VAR_004737 phenoCommon 46,XY sex reversal type 3 (SRXY3) [MIM:612965] VAR_004738 commonName VAR_004738 VAR_004738 disease phenotype-associated VAR_004738 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] VAR_004740 commonName VAR_004740 VAR_004740 disease phenotype-associated VAR_004740 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] VAR_004741 commonName VAR_004741 VAR_004741 disease phenotype-associated VAR_004741 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] VAR_004742 commonName VAR_004742 VAR_004742 disease phenotype-associated VAR_004742 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] VAR_004743 commonName VAR_004743 VAR_004743 disease phenotype-associated VAR_004743 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] VAR_004744 commonName VAR_004744 VAR_004744 disease phenotype-associated VAR_004744 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] VAR_004745 commonName VAR_004745 VAR_004745 disease phenotype-associated VAR_004745 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] VAR_004746 commonName VAR_004746 VAR_004746 disease phenotype-associated VAR_004746 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] VAR_004765 commonName VAR_004765 VAR_004765 disease phenotype-associated VAR_004765 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004766 commonName VAR_004766 VAR_004766 disease phenotype-associated VAR_004766 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004767 commonName VAR_004767 VAR_004767 disease phenotype-associated VAR_004767 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004768 commonName VAR_004768 VAR_004768 disease phenotype-associated VAR_004768 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004769 commonName VAR_004769 VAR_004769 disease phenotype-associated VAR_004769 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004770 commonName VAR_004770 VAR_004770 disease phenotype-associated VAR_004770 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004771 commonName VAR_004771 VAR_004771 disease phenotype-associated VAR_004771 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004772 commonName VAR_004772 VAR_004772 disease phenotype-associated VAR_004772 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004773 commonName VAR_004773 VAR_004773 disease phenotype-associated VAR_004773 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004774 commonName VAR_004774 VAR_004774 disease phenotype-associated VAR_004774 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004775 commonName VAR_004775 VAR_004775 disease not phenotype-associated VAR_004776 commonName VAR_004776 VAR_004776 disease phenotype-associated VAR_004776 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004777 commonName VAR_004777 VAR_004777 disease phenotype-associated VAR_004777 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004778 commonName VAR_004778 VAR_004778 disease phenotype-associated VAR_004778 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004779 commonName VAR_004779 VAR_004779 disease phenotype-associated VAR_004779 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004781 commonName VAR_004781 VAR_004781 disease phenotype-associated VAR_004781 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004782 commonName VAR_004782 VAR_004782 disease phenotype-associated VAR_004782 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004783 commonName VAR_004783 VAR_004783 disease phenotype-associated VAR_004783 phenoCommon Congenital stationary night blindness autosomal dominant type 1 (CSNBAD1) [MIM:610445] VAR_004784 commonName VAR_004784 VAR_004784 disease phenotype-associated VAR_004784 phenoCommon Congenital stationary night blindness autosomal dominant type 1 (CSNBAD1) [MIM:610445] VAR_004785 commonName VAR_004785 VAR_004785 disease not phenotype-associated VAR_004786 commonName VAR_004786 VAR_004786 disease phenotype-associated VAR_004786 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004787 commonName VAR_004787 VAR_004787 disease phenotype-associated VAR_004787 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004788 commonName VAR_004788 VAR_004788 disease phenotype-associated VAR_004788 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004789 commonName VAR_004789 VAR_004789 disease phenotype-associated VAR_004789 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004790 commonName VAR_004790 VAR_004790 disease phenotype-associated VAR_004790 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004791 commonName VAR_004791 VAR_004791 disease phenotype-associated VAR_004791 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004792 commonName VAR_004792 VAR_004792 disease phenotype-associated VAR_004792 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004793 commonName VAR_004793 VAR_004793 disease phenotype-associated VAR_004793 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004794 commonName VAR_004794 VAR_004794 disease phenotype-associated VAR_004794 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004795 commonName VAR_004795 VAR_004795 disease phenotype-associated VAR_004795 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004796 commonName VAR_004796 VAR_004796 disease phenotype-associated VAR_004796 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004797 commonName VAR_004797 VAR_004797 disease phenotype-associated VAR_004797 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004798 commonName VAR_004798 VAR_004798 disease phenotype-associated VAR_004798 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004799 commonName VAR_004799 VAR_004799 disease phenotype-associated VAR_004799 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004800 commonName VAR_004800 VAR_004800 disease phenotype-associated VAR_004800 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004801 commonName VAR_004801 VAR_004801 disease phenotype-associated VAR_004801 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004802 commonName VAR_004802 VAR_004802 disease phenotype-associated VAR_004802 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004803 commonName VAR_004803 VAR_004803 disease phenotype-associated VAR_004803 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004804 commonName VAR_004804 VAR_004804 disease phenotype-associated VAR_004804 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004805 commonName VAR_004805 VAR_004805 disease phenotype-associated VAR_004805 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004806 commonName VAR_004806 VAR_004806 disease phenotype-associated VAR_004806 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004807 commonName VAR_004807 VAR_004807 disease phenotype-associated VAR_004807 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004808 commonName VAR_004808 VAR_004808 disease phenotype-associated VAR_004808 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004809 commonName VAR_004809 VAR_004809 disease phenotype-associated VAR_004809 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004810 commonName VAR_004810 VAR_004810 disease phenotype-associated VAR_004810 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004811 commonName VAR_004811 VAR_004811 disease phenotype-associated VAR_004811 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004812 commonName VAR_004812 VAR_004812 disease phenotype-associated VAR_004812 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004813 commonName VAR_004813 VAR_004813 disease phenotype-associated VAR_004813 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004814 commonName VAR_004814 VAR_004814 disease phenotype-associated VAR_004814 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004815 commonName VAR_004815 VAR_004815 disease phenotype-associated VAR_004815 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004816 commonName VAR_004816 VAR_004816 disease phenotype-associated VAR_004816 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004817 commonName VAR_004817 VAR_004818 commonName VAR_004818 VAR_004818 disease phenotype-associated VAR_004818 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004819 commonName VAR_004819 VAR_004819 disease phenotype-associated VAR_004819 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004820 commonName VAR_004820 VAR_004820 disease phenotype-associated VAR_004820 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004821 commonName VAR_004821 VAR_004821 disease phenotype-associated VAR_004821 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004822 commonName VAR_004822 VAR_004822 disease phenotype-associated VAR_004822 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004825 commonName VAR_004825 VAR_004825 disease phenotype-associated VAR_004825 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004826 commonName VAR_004826 VAR_004826 disease phenotype-associated VAR_004826 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004827 commonName VAR_004827 VAR_004827 disease phenotype-associated VAR_004827 phenoCommon Congenital stationary night blindness autosomal dominant type 1 (CSNBAD1) [MIM:610445] VAR_004828 commonName VAR_004828 VAR_004828 disease phenotype-associated VAR_004828 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004829 commonName VAR_004829 VAR_004829 disease phenotype-associated VAR_004829 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004830 commonName VAR_004830 VAR_004830 disease phenotype-associated VAR_004830 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004831 commonName VAR_004831 VAR_004831 disease phenotype-associated VAR_004831 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004832 commonName VAR_004832 VAR_004832 disease phenotype-associated VAR_004832 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004833 commonName VAR_004833 VAR_004833 disease phenotype-associated VAR_004833 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004834 commonName VAR_004834 VAR_004834 disease phenotype-associated VAR_004834 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004835 commonName VAR_004835 VAR_004835 disease phenotype-associated VAR_004835 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004836 commonName VAR_004836 VAR_004836 disease phenotype-associated VAR_004836 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004837 commonName VAR_004837 VAR_004837 disease phenotype-associated VAR_004837 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_004838 commonName VAR_004838 VAR_004838 disease phenotype-associated VAR_004838 phenoCommon Tritan color blindness (CBT) [MIM:190900] VAR_004839 commonName VAR_004839 VAR_004839 disease phenotype-associated VAR_004839 phenoCommon Tritan color blindness (CBT) [MIM:190900] VAR_004840 commonName VAR_004840 VAR_004840 disease phenotype-associated VAR_004840 phenoCommon Tritan color blindness (CBT) [MIM:190900] VAR_004841 commonName VAR_004841 VAR_004841 disease phenotype-associated VAR_004841 phenoCommon Blue cone monochromacy (BCM) [MIM:303700] VAR_004841 phenoCommon Partial colorblindness deutan series (CBD) [MIM:303800] VAR_004842 commonName VAR_004842 VAR_004842 disease not phenotype-associated VAR_004843 commonName VAR_004843 VAR_004843 disease phenotype-associated VAR_004843 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004844 commonName VAR_004844 VAR_004844 disease phenotype-associated VAR_004844 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004845 commonName VAR_004845 VAR_004845 disease phenotype-associated VAR_004845 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004846 commonName VAR_004846 VAR_004846 disease phenotype-associated VAR_004846 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004847 commonName VAR_004847 VAR_004847 disease not phenotype-associated VAR_004848 commonName VAR_004848 VAR_004848 disease phenotype-associated VAR_004848 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004849 commonName VAR_004849 VAR_004849 disease phenotype-associated VAR_004849 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004850 commonName VAR_004850 VAR_004850 disease phenotype-associated VAR_004850 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004851 commonName VAR_004851 VAR_004851 disease not phenotype-associated VAR_004852 commonName VAR_004852 VAR_004852 disease phenotype-associated VAR_004852 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004853 commonName VAR_004853 VAR_004853 disease phenotype-associated VAR_004853 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004854 commonName VAR_004854 VAR_004854 disease phenotype-associated VAR_004854 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004855 commonName VAR_004855 VAR_004855 disease phenotype-associated VAR_004855 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004856 commonName VAR_004856 VAR_004856 disease phenotype-associated VAR_004856 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004857 commonName VAR_004857 VAR_004857 disease phenotype-associated VAR_004857 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004858 commonName VAR_004858 VAR_004858 disease phenotype-associated VAR_004858 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004860 commonName VAR_004860 VAR_004860 disease phenotype-associated VAR_004860 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004861 commonName VAR_004861 VAR_004861 disease phenotype-associated VAR_004861 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004862 commonName VAR_004862 VAR_004862 disease phenotype-associated VAR_004862 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004863 commonName VAR_004863 VAR_004863 disease phenotype-associated VAR_004863 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004864 commonName VAR_004864 VAR_004864 disease phenotype-associated VAR_004864 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004865 commonName VAR_004865 VAR_004865 disease phenotype-associated VAR_004865 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004866 commonName VAR_004866 VAR_004866 disease phenotype-associated VAR_004866 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004867 commonName VAR_004867 VAR_004867 disease phenotype-associated VAR_004867 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004868 commonName VAR_004868 VAR_004868 disease phenotype-associated VAR_004868 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004869 commonName VAR_004869 VAR_004869 disease not phenotype-associated VAR_004870 commonName VAR_004870 VAR_004870 disease phenotype-associated VAR_004870 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004871 commonName VAR_004871 VAR_004871 disease not phenotype-associated VAR_004872 commonName VAR_004872 VAR_004872 disease phenotype-associated VAR_004872 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004873 commonName VAR_004873 VAR_004873 disease phenotype-associated VAR_004873 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004874 commonName VAR_004874 VAR_004874 disease phenotype-associated VAR_004874 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004875 commonName VAR_004875 VAR_004875 disease phenotype-associated VAR_004875 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004876 commonName VAR_004876 VAR_004876 disease phenotype-associated VAR_004876 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004877 commonName VAR_004877 VAR_004877 disease phenotype-associated VAR_004877 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004878 commonName VAR_004878 VAR_004878 disease phenotype-associated VAR_004878 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004879 commonName VAR_004879 VAR_004879 disease phenotype-associated VAR_004879 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004880 commonName VAR_004880 VAR_004880 disease phenotype-associated VAR_004880 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004881 commonName VAR_004881 VAR_004881 disease phenotype-associated VAR_004881 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004882 commonName VAR_004882 VAR_004882 disease phenotype-associated VAR_004882 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004883 commonName VAR_004883 VAR_004883 disease phenotype-associated VAR_004883 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004884 commonName VAR_004884 VAR_004884 disease phenotype-associated VAR_004884 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004885 commonName VAR_004885 VAR_004885 disease phenotype-associated VAR_004885 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004886 commonName VAR_004886 VAR_004886 disease phenotype-associated VAR_004886 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004887 commonName VAR_004887 VAR_004887 disease phenotype-associated VAR_004887 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004888 commonName VAR_004888 VAR_004888 disease phenotype-associated VAR_004888 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004889 commonName VAR_004889 VAR_004889 disease phenotype-associated VAR_004889 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004890 commonName VAR_004890 VAR_004890 disease phenotype-associated VAR_004890 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004892 commonName VAR_004892 VAR_004892 disease phenotype-associated VAR_004892 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004893 commonName VAR_004893 VAR_004893 disease phenotype-associated VAR_004893 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004894 commonName VAR_004894 VAR_004894 disease phenotype-associated VAR_004894 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004895 commonName VAR_004895 VAR_004895 disease phenotype-associated VAR_004895 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004896 commonName VAR_004896 VAR_004896 disease phenotype-associated VAR_004896 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004897 commonName VAR_004897 VAR_004897 disease phenotype-associated VAR_004897 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004898 commonName VAR_004898 VAR_004898 disease phenotype-associated VAR_004898 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004899 commonName VAR_004899 VAR_004899 disease phenotype-associated VAR_004899 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004900 commonName VAR_004900 VAR_004900 disease phenotype-associated VAR_004900 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004901 commonName VAR_004901 VAR_004901 disease phenotype-associated VAR_004901 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004902 commonName VAR_004902 VAR_004902 disease phenotype-associated VAR_004902 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004903 commonName VAR_004903 VAR_004903 disease phenotype-associated VAR_004903 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004904 commonName VAR_004904 VAR_004904 disease phenotype-associated VAR_004904 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004905 commonName VAR_004905 VAR_004905 disease phenotype-associated VAR_004905 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004906 commonName VAR_004906 VAR_004906 disease phenotype-associated VAR_004906 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004907 commonName VAR_004907 VAR_004907 disease phenotype-associated VAR_004907 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004908 commonName VAR_004908 VAR_004908 disease phenotype-associated VAR_004908 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004909 commonName VAR_004909 VAR_004909 disease phenotype-associated VAR_004909 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004910 commonName VAR_004910 VAR_004910 disease phenotype-associated VAR_004910 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004911 commonName VAR_004911 VAR_004911 disease phenotype-associated VAR_004911 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004912 commonName VAR_004912 VAR_004912 disease phenotype-associated VAR_004912 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004913 commonName VAR_004913 VAR_004913 disease phenotype-associated VAR_004913 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004914 commonName VAR_004914 VAR_004914 disease phenotype-associated VAR_004914 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004915 commonName VAR_004915 VAR_004915 disease phenotype-associated VAR_004915 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004916 commonName VAR_004916 VAR_004916 disease phenotype-associated VAR_004916 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004917 commonName VAR_004917 VAR_004917 disease phenotype-associated VAR_004917 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004918 commonName VAR_004918 VAR_004918 disease phenotype-associated VAR_004918 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004919 commonName VAR_004919 VAR_004919 disease phenotype-associated VAR_004919 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004920 commonName VAR_004920 VAR_004920 disease phenotype-associated VAR_004920 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004921 commonName VAR_004921 VAR_004921 disease phenotype-associated VAR_004921 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004922 commonName VAR_004922 VAR_004922 disease phenotype-associated VAR_004922 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004923 commonName VAR_004923 VAR_004923 disease phenotype-associated HbVar.674 ethnic Sicilian VAR_004923 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004924 commonName VAR_004924 VAR_004924 disease phenotype-associated VAR_004924 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004925 commonName VAR_004925 VAR_004925 disease phenotype-associated VAR_004925 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004926 commonName VAR_004926 VAR_004926 disease phenotype-associated VAR_004926 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004927 commonName VAR_004927 VAR_004927 disease not phenotype-associated VAR_004929 commonName VAR_004929 VAR_004929 disease phenotype-associated VAR_004929 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004930 commonName VAR_004930 VAR_004930 disease phenotype-associated VAR_004930 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004931 commonName VAR_004931 VAR_004931 disease phenotype-associated VAR_004931 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004932 commonName VAR_004932 VAR_004932 disease phenotype-associated VAR_004932 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004933 commonName VAR_004933 VAR_004933 disease phenotype-associated VAR_004933 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004934 commonName VAR_004934 VAR_004934 disease phenotype-associated VAR_004934 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004935 commonName VAR_004935 VAR_004935 disease phenotype-associated VAR_004935 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004936 commonName VAR_004936 VAR_004936 disease phenotype-associated VAR_004936 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004938 commonName VAR_004938 VAR_004938 disease phenotype-associated VAR_004938 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004939 commonName VAR_004939 VAR_004939 disease phenotype-associated VAR_004939 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004940 commonName VAR_004940 VAR_004940 disease phenotype-associated VAR_004940 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004941 commonName VAR_004941 VAR_004941 disease phenotype-associated VAR_004941 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004942 commonName VAR_004942 VAR_004942 disease phenotype-associated VAR_004942 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004943 commonName VAR_004943 VAR_004943 disease phenotype-associated VAR_004943 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004944 commonName VAR_004944 VAR_004944 disease phenotype-associated VAR_004944 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004946 commonName VAR_004946 VAR_004946 disease phenotype-associated VAR_004946 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004947 commonName VAR_004947 VAR_004947 disease phenotype-associated VAR_004947 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004948 commonName VAR_004948 VAR_004948 disease phenotype-associated VAR_004948 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_004949 commonName VAR_004949 VAR_004949 disease phenotype-associated VAR_004949 phenoCommon Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] VAR_004950 commonName VAR_004950 VAR_004950 disease phenotype-associated VAR_004950 phenoCommon Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] VAR_004951 commonName VAR_004951 VAR_004951 disease phenotype-associated VAR_004951 phenoCommon Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] VAR_004952 commonName VAR_004952 VAR_004952 disease phenotype-associated VAR_004952 phenoCommon Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] VAR_004953 commonName VAR_004953 VAR_004953 disease phenotype-associated VAR_004953 phenoCommon Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] VAR_004954 commonName VAR_004954 VAR_004954 disease phenotype-associated VAR_004954 phenoCommon X-linked Leigh syndrome (X-LS) [MIM:308930] VAR_004955 commonName VAR_004955 VAR_004955 disease phenotype-associated VAR_004955 phenoCommon Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] VAR_004956 commonName VAR_004956 VAR_004956 disease phenotype-associated VAR_004956 phenoCommon Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] VAR_004957 commonName VAR_004957 VAR_004957 disease phenotype-associated VAR_004957 phenoCommon Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] VAR_004958 commonName VAR_004958 VAR_004958 disease phenotype-associated VAR_004958 phenoCommon X-linked Leigh syndrome (X-LS) [MIM:308930] VAR_004959 commonName VAR_004959 VAR_004959 disease phenotype-associated VAR_004959 phenoCommon Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] VAR_004959 phenoCommon X-linked Leigh syndrome (X-LS) [MIM:308930] VAR_004960 commonName VAR_004960 VAR_004960 disease phenotype-associated VAR_004960 phenoCommon Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] VAR_004961 commonName VAR_004961 VAR_004961 disease phenotype-associated VAR_004961 phenoCommon Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] VAR_004962 commonName VAR_004962 VAR_004962 disease phenotype-associated VAR_004962 phenoCommon Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] VAR_004963 commonName VAR_004963 VAR_004963 disease phenotype-associated VAR_004963 phenoCommon Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] VAR_004966 commonName VAR_004966 VAR_004966 disease phenotype-associated VAR_004966 phenoCommon X-linked Leigh syndrome (X-LS) [MIM:308930] VAR_004967 commonName VAR_004967 VAR_004967 disease not phenotype-associated VAR_004968 commonName VAR_004968 VAR_004968 disease phenotype-associated VAR_004968 phenoCommon Maple syrup urine disease type IA (MSUD1A) [MIM:248600] VAR_004969 commonName VAR_004969 VAR_004969 disease phenotype-associated VAR_004969 phenoCommon Maple syrup urine disease type IA (MSUD1A) [MIM:248600] VAR_004974 commonName VAR_004974 VAR_004974 disease phenotype-associated VAR_004974 phenoCommon Maple syrup urine disease type IB (MSUD1B) [MIM:248600] VAR_004976 commonName VAR_004976 VAR_004976 disease not phenotype-associated VAR_004978 commonName VAR_004978 VAR_004978 disease phenotype-associated VAR_004978 phenoCommon Maple syrup urine disease type 2 (MSUD2) [MIM:248600] VAR_004979 commonName VAR_004979 VAR_004979 disease phenotype-associated VAR_004979 phenoCommon Non-ketotic hyperglycinemia (NKH) [MIM:605899] VAR_004980 commonName VAR_004980 VAR_004980 disease phenotype-associated VAR_004980 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_004981 commonName VAR_004981 VAR_004981 disease phenotype-associated VAR_004981 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_004982 commonName VAR_004982 VAR_004982 disease phenotype-associated VAR_004982 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_004983 commonName VAR_004983 VAR_004983 disease phenotype-associated VAR_004983 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_004984 commonName VAR_004984 VAR_004984 disease phenotype-associated VAR_004984 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_004985 commonName VAR_004985 VAR_004985 disease phenotype-associated VAR_004985 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_004986 commonName VAR_004986 VAR_004986 disease phenotype-associated VAR_004986 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_004988 commonName VAR_004988 VAR_004988 disease phenotype-associated VAR_004988 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_004989 commonName VAR_004989 VAR_004989 disease phenotype-associated VAR_004989 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_004990 commonName VAR_004990 VAR_004990 disease phenotype-associated VAR_004990 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_004991 commonName VAR_004991 VAR_004991 disease phenotype-associated VAR_004991 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_004992 commonName VAR_004992 VAR_004992 disease phenotype-associated VAR_004992 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_004993 commonName VAR_004993 VAR_004993 disease phenotype-associated VAR_004993 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_004994 commonName VAR_004994 VAR_004994 disease phenotype-associated VAR_004994 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_004995 commonName VAR_004995 VAR_004995 disease phenotype-associated VAR_004995 phenoCommon Canavan disease (CAND) [MIM:271900] VAR_004996 commonName VAR_004996 VAR_004996 disease phenotype-associated VAR_004996 phenoCommon Canavan disease (CAND) [MIM:271900] VAR_004998 commonName VAR_004998 VAR_004998 disease phenotype-associated VAR_004998 phenoCommon Canavan disease (CAND) [MIM:271900] VAR_004999 commonName VAR_004999 VAR_004999 disease phenotype-associated VAR_004999 phenoCommon Canavan disease (CAND) [MIM:271900] VAR_005000 commonName VAR_005000 VAR_005000 disease phenotype-associated VAR_005000 phenoCommon Canavan disease (CAND) [MIM:271900] VAR_005001 commonName VAR_005001 VAR_005001 disease phenotype-associated VAR_005001 phenoCommon Canavan disease (CAND) [MIM:271900] VAR_005002 commonName VAR_005002 VAR_005002 disease phenotype-associated VAR_005002 phenoCommon Rhizomelic chondrodysplasia punctata type 3 (RCDP3) [MIM:600121] VAR_005003 commonName VAR_005003 VAR_005003 disease not phenotype-associated VAR_005004 commonName VAR_005004 VAR_005004 disease phenotype-associated VAR_005004 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] VAR_005005 commonName VAR_005005 VAR_005005 disease phenotype-associated VAR_005005 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] VAR_005006 commonName VAR_005006 VAR_005006 disease not phenotype-associated VAR_005007 commonName VAR_005007 VAR_005007 disease phenotype-associated VAR_005007 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_005008 commonName VAR_005008 VAR_005008 disease phenotype-associated VAR_005008 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_005009 commonName VAR_005009 VAR_005009 disease phenotype-associated VAR_005009 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_005010 commonName VAR_005010 VAR_005010 disease phenotype-associated VAR_005010 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_005011 commonName VAR_005011 VAR_005011 disease phenotype-associated VAR_005011 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_005012 commonName VAR_005012 VAR_005012 disease phenotype-associated VAR_005012 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_005013 commonName VAR_005013 VAR_005013 disease phenotype-associated VAR_005013 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_005014 commonName VAR_005014 VAR_005014 disease phenotype-associated VAR_005014 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_005015 commonName VAR_005015 VAR_005015 disease phenotype-associated VAR_005015 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_005032 commonName VAR_005032 VAR_005032 disease phenotype-associated VAR_005032 phenoCommon Familial adenomatous polyposis (FAP) [MIM:175100] VAR_005033 commonName VAR_005033 VAR_005033 disease phenotype-associated VAR_005033 phenoCommon Familial adenomatous polyposis (FAP) [MIM:175100] VAR_005034 commonName VAR_005034 VAR_005034 disease phenotype-associated VAR_005034 phenoCommon Familial adenomatous polyposis (FAP) [MIM:175100] VAR_005035 commonName VAR_005035 VAR_005035 disease phenotype-associated VAR_005035 phenoCommon Gastric cancer (GASC) [MIM:613659] VAR_005036 comment Colorectal carcinoma VAR_005036 commonName VAR_005036 VAR_005036 disease phenotype-associated VAR_005036 phenoCommon Gastric cancer (GASC) [MIM:613659] VAR_005037 comment Colorectal tumor VAR_005037 commonName VAR_005037 VAR_005038 commonName VAR_005038 VAR_005038 disease phenotype-associated VAR_005038 phenoCommon Familial adenomatous polyposis (FAP) [MIM:175100] VAR_005039 commonName VAR_005039 VAR_005039 disease phenotype-associated VAR_005039 phenoCommon Gastric cancer (GASC) [MIM:613659] VAR_005040 comment Colorectal tumor VAR_005040 commonName VAR_005040 VAR_005041 commonName VAR_005041 VAR_005041 disease not phenotype-associated VAR_005042 commonName VAR_005042 VAR_005042 disease phenotype-associated VAR_005042 phenoCommon Gastric cancer (GASC) [MIM:613659] VAR_005043 commonName VAR_005043 VAR_005043 disease phenotype-associated VAR_005043 phenoCommon Gastric cancer (GASC) [MIM:613659] VAR_005044 commonName VAR_005044 VAR_005044 disease phenotype-associated VAR_005044 phenoCommon Familial adenomatous polyposis (FAP) [MIM:175100] VAR_005045 commonName VAR_005045 VAR_005045 disease phenotype-associated VAR_005045 phenoCommon Gastric cancer (GASC) [MIM:613659] VAR_005046 commonName VAR_005046 VAR_005046 disease phenotype-associated VAR_005046 phenoCommon Gastric cancer (GASC) [MIM:613659] VAR_005047 commonName VAR_005047 VAR_005047 disease not phenotype-associated VAR_005048 commonName VAR_005048 VAR_005048 disease not phenotype-associated VAR_005049 commonName VAR_005049 VAR_005049 disease not phenotype-associated VAR_005050 commonName VAR_005050 VAR_005050 disease phenotype-associated VAR_005050 phenoCommon Gastric cancer (GASC) [MIM:613659] VAR_005051 commonName VAR_005051 VAR_005051 disease phenotype-associated VAR_005051 phenoCommon Familial adenomatous polyposis (FAP) [MIM:175100] VAR_005052 commonName VAR_005052 VAR_005052 disease phenotype-associated VAR_005052 phenoCommon Gastric cancer (GASC) [MIM:613659] VAR_005053 commonName VAR_005053 VAR_005053 disease phenotype-associated VAR_005053 phenoCommon Familial adenomatous polyposis (FAP) [MIM:175100] VAR_005054 comment Colorectal tumor VAR_005054 commonName VAR_005054 VAR_005069 commonName VAR_005069 VAR_005069 disease phenotype-associated VAR_005069 phenoCommon Aspartylglucosaminuria (AGU) [MIM:208400] VAR_005070 commonName VAR_005070 VAR_005070 disease phenotype-associated VAR_005070 phenoCommon Aspartylglucosaminuria (AGU) [MIM:208400] VAR_005071 commonName VAR_005071 VAR_005071 disease phenotype-associated VAR_005071 phenoCommon Aspartylglucosaminuria (AGU) [MIM:208400] VAR_005072 commonName VAR_005072 VAR_005072 disease phenotype-associated VAR_005072 phenoCommon Aspartylglucosaminuria (AGU) [MIM:208400] VAR_005073 commonName VAR_005073 VAR_005073 disease phenotype-associated VAR_005073 phenoCommon Aspartylglucosaminuria (AGU) [MIM:208400] VAR_005074 commonName VAR_005074 VAR_005074 disease phenotype-associated VAR_005074 phenoCommon Aspartylglucosaminuria (AGU) [MIM:208400] VAR_005075 commonName VAR_005075 VAR_005075 disease phenotype-associated VAR_005075 phenoCommon Aspartylglucosaminuria (AGU) [MIM:208400] VAR_005076 commonName VAR_005076 VAR_005076 disease phenotype-associated VAR_005076 phenoCommon Corneal dystrophy lattice type 1 (CDL1) [MIM:122200] VAR_005077 commonName VAR_005077 VAR_005077 disease phenotype-associated VAR_005077 phenoCommon Avellino corneal dystrophy (ACD) [MIM:607541] VAR_005078 commonName VAR_005078 VAR_005078 disease phenotype-associated VAR_005078 phenoCommon Reis-Buecklers corneal dystrophy (CDRB) [MIM:608470] VAR_005079 commonName VAR_005079 VAR_005079 disease phenotype-associated VAR_005079 phenoCommon Lattice corneal dystrophy type 3A (CDL3A) [MIM:608471] VAR_005084 commonName VAR_005084 VAR_005084 disease phenotype-associated VAR_005084 phenoCommon Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] VAR_005085 commonName VAR_005085 VAR_005085 disease phenotype-associated VAR_005085 phenoCommon Breast cancer (BC) [MIM:114480] VAR_005086 commonName VAR_005086 VAR_005086 disease phenotype-associated VAR_005086 phenoCommon Breast cancer (BC) [MIM:114480] VAR_005087 commonName VAR_005087 VAR_005088 commonName VAR_005088 VAR_005088 disease phenotype-associated VAR_005088 phenoCommon Breast cancer (BC) [MIM:114480] VAR_005089 commonName VAR_005089 VAR_005089 disease phenotype-associated VAR_005089 phenoCommon Breast cancer (BC) [MIM:114480] VAR_005090 commonName VAR_005090 VAR_005090 disease phenotype-associated VAR_005090 phenoCommon Breast cancer (BC) [MIM:114480] VAR_005091 commonName VAR_005091 VAR_005091 disease phenotype-associated VAR_005091 phenoCommon Breast cancer (BC) [MIM:114480] VAR_005092 commonName VAR_005092 VAR_005092 disease not phenotype-associated VAR_005093 comment Lung cancer VAR_005093 commonName VAR_005093 VAR_005094 commonName VAR_005094 VAR_005094 disease not phenotype-associated VAR_005095 commonName VAR_005095 VAR_005095 disease phenotype-associated VAR_005095 phenoCommon Breast cancer (BC) [MIM:114480] VAR_005096 comment Ovarian cancer VAR_005096 commonName VAR_005096 VAR_005097 commonName VAR_005097 VAR_005097 disease phenotype-associated VAR_005097 phenoCommon Breast cancer (BC) [MIM:114480] VAR_005098 commonName VAR_005098 VAR_005098 disease not phenotype-associated VAR_005099 commonName VAR_005099 VAR_005099 disease not phenotype-associated VAR_005101 comment Bladder cancer VAR_005101 commonName VAR_005101 VAR_005102 commonName VAR_005102 VAR_005102 disease not phenotype-associated VAR_005103 commonName VAR_005103 VAR_005103 disease not phenotype-associated VAR_005104 commonName VAR_005104 VAR_005104 disease not phenotype-associated VAR_005105 commonName VAR_005105 VAR_005105 disease phenotype-associated VAR_005105 phenoCommon Breast cancer (BC) [MIM:114480] VAR_005106 commonName VAR_005106 VAR_005106 disease phenotype-associated VAR_005106 phenoCommon Breast cancer (BC) [MIM:114480] VAR_005107 commonName VAR_005107 VAR_005107 disease phenotype-associated VAR_005107 phenoCommon Breast cancer (BC) [MIM:114480] VAR_005108 commonName VAR_005108 VAR_005109 comment Melanoma VAR_005109 commonName VAR_005109 VAR_005110 commonName VAR_005110 VAR_005110 disease phenotype-associated VAR_005110 phenoCommon Breast cancer (BC) [MIM:114480] VAR_005111 commonName VAR_005111 VAR_005111 disease phenotype-associated VAR_005111 phenoCommon Breast cancer (BC) [MIM:114480] VAR_005112 commonName VAR_005112 VAR_005112 disease not phenotype-associated VAR_005113 commonName VAR_005113 VAR_005113 disease phenotype-associated VAR_005113 phenoCommon Biotinidase deficiency (BTD deficiency) [MIM:253260] VAR_005114 commonName VAR_005114 VAR_005114 disease phenotype-associated VAR_005114 phenoCommon Biotinidase deficiency (BTD deficiency) [MIM:253260] VAR_005115 commonName VAR_005115 VAR_005115 disease phenotype-associated VAR_005115 phenoCommon Biotinidase deficiency (BTD deficiency) [MIM:253260] VAR_005116 commonName VAR_005116 VAR_005116 disease phenotype-associated VAR_005116 phenoCommon Biotinidase deficiency (BTD deficiency) [MIM:253260] VAR_005117 commonName VAR_005117 VAR_005117 disease phenotype-associated VAR_005117 phenoCommon Biotinidase deficiency (BTD deficiency) [MIM:253260] VAR_005118 commonName VAR_005118 VAR_005118 disease phenotype-associated VAR_005118 phenoCommon Biotinidase deficiency (BTD deficiency) [MIM:253260] VAR_005119 commonName VAR_005119 VAR_005119 disease phenotype-associated VAR_005119 phenoCommon Biotinidase deficiency (BTD deficiency) [MIM:253260] VAR_005122 commonName VAR_005122 VAR_005122 disease not phenotype-associated VAR_005123 commonName VAR_005123 VAR_005123 disease phenotype-associated VAR_005123 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690] VAR_005124 commonName VAR_005124 VAR_005124 disease phenotype-associated VAR_005124 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690] VAR_005125 commonName VAR_005125 VAR_005125 disease phenotype-associated VAR_005125 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690] VAR_005128 commonName VAR_005128 VAR_005128 disease not phenotype-associated VAR_005131 commonName VAR_005131 VAR_005131 disease phenotype-associated VAR_005131 phenoCommon Neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200] VAR_005132 commonName VAR_005132 VAR_005132 disease phenotype-associated VAR_005132 phenoCommon Neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200] VAR_005137 commonName VAR_005137 VAR_005137 disease phenotype-associated VAR_005137 phenoCommon Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731] VAR_005138 commonName VAR_005138 VAR_005138 disease not phenotype-associated VAR_005139 commonName VAR_005139 VAR_005139 disease not phenotype-associated VAR_005140 commonName VAR_005140 VAR_005140 disease phenotype-associated VAR_005140 phenoCommon Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000] VAR_005141 comment A colorectal cancer sample VAR_005141 commonName VAR_005141 VAR_005142 comment A colorectal cancer sample VAR_005142 commonName VAR_005142 VAR_005143 comment A colorectal cancer sample VAR_005143 commonName VAR_005143 VAR_005144 comment Colorectal cancer samples VAR_005144 commonName VAR_005144 VAR_005145 comment Colorectal cancer samples VAR_005145 commonName VAR_005145 VAR_005147 commonName VAR_005147 VAR_005147 disease phenotype-associated VAR_005147 phenoCommon Duchenne muscular dystrophy (DMD) [MIM:310200] VAR_005148 commonName VAR_005148 VAR_005148 disease not phenotype-associated VAR_005149 commonName VAR_005149 VAR_005149 disease phenotype-associated VAR_005149 phenoCommon Becker muscular dystrophy (BMD) [MIM:300376] VAR_005150 commonName VAR_005150 VAR_005150 disease phenotype-associated VAR_005150 phenoCommon Becker muscular dystrophy (BMD) [MIM:300376] VAR_005151 commonName VAR_005151 VAR_005151 disease not phenotype-associated VAR_005153 commonName VAR_005153 VAR_005153 disease not phenotype-associated VAR_005154 commonName VAR_005154 VAR_005154 disease phenotype-associated VAR_005154 phenoCommon Duchenne muscular dystrophy (DMD) [MIM:310200] VAR_005155 commonName VAR_005155 VAR_005155 disease not phenotype-associated VAR_005156 commonName VAR_005156 VAR_005156 disease not phenotype-associated VAR_005157 commonName VAR_005157 VAR_005157 disease not phenotype-associated VAR_005158 commonName VAR_005158 VAR_005158 disease not phenotype-associated VAR_005159 commonName VAR_005159 VAR_005159 disease not phenotype-associated VAR_005160 commonName VAR_005160 VAR_005160 disease not phenotype-associated VAR_005161 commonName VAR_005161 VAR_005161 disease not phenotype-associated VAR_005162 commonName VAR_005162 VAR_005162 disease not phenotype-associated VAR_005163 commonName VAR_005163 VAR_005163 disease not phenotype-associated VAR_005164 commonName VAR_005164 VAR_005164 disease not phenotype-associated VAR_005165 commonName VAR_005165 VAR_005165 disease not phenotype-associated VAR_005173 commonName VAR_005173 VAR_005173 disease not phenotype-associated VAR_005174 commonName VAR_005174 VAR_005174 disease not phenotype-associated VAR_005175 commonName VAR_005175 VAR_005175 disease not phenotype-associated VAR_005176 commonName VAR_005176 VAR_005176 disease not phenotype-associated VAR_005177 commonName VAR_005177 VAR_005177 disease not phenotype-associated VAR_005178 commonName VAR_005178 VAR_005178 disease not phenotype-associated VAR_005179 commonName VAR_005179 VAR_005179 disease phenotype-associated VAR_005179 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_005180 commonName VAR_005180 VAR_005180 disease phenotype-associated VAR_005180 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_005181 commonName VAR_005181 VAR_005181 disease phenotype-associated VAR_005181 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_005182 commonName VAR_005182 VAR_005182 disease phenotype-associated VAR_005182 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_005183 commonName VAR_005183 VAR_005183 disease phenotype-associated VAR_005183 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_005184 commonName VAR_005184 VAR_005184 disease phenotype-associated VAR_005184 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_005185 commonName VAR_005185 VAR_005185 disease phenotype-associated VAR_005185 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_005186 commonName VAR_005186 VAR_005186 disease phenotype-associated VAR_005186 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_005187 commonName VAR_005187 VAR_005187 disease phenotype-associated VAR_005187 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_005188 commonName VAR_005188 VAR_005188 disease phenotype-associated VAR_005188 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_005189 commonName VAR_005189 VAR_005189 disease phenotype-associated VAR_005189 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_005190 commonName VAR_005190 VAR_005190 disease phenotype-associated VAR_005190 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_005191 commonName VAR_005191 VAR_005191 disease phenotype-associated VAR_005191 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_005192 commonName VAR_005192 VAR_005192 disease not phenotype-associated VAR_005193 commonName VAR_005193 VAR_005193 disease phenotype-associated VAR_005193 phenoCommon Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300] VAR_005194 commonName VAR_005194 VAR_005194 disease phenotype-associated VAR_005194 phenoCommon Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300] VAR_005195 commonName VAR_005195 VAR_005195 disease phenotype-associated VAR_005195 phenoCommon Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300] VAR_005197 commonName VAR_005197 VAR_005197 disease phenotype-associated VAR_005197 phenoCommon Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300] VAR_005198 commonName VAR_005198 VAR_005198 disease phenotype-associated VAR_005198 phenoCommon Emery-Dreifuss muscular dystrophy type 1 (EDMD1) [MIM:310300] VAR_005199 commonName VAR_005199 VAR_005199 disease phenotype-associated VAR_005199 phenoCommon Emery-Dreifuss muscular dystrophy type 1 (EDMD1) [MIM:310300] VAR_005200 commonName VAR_005200 VAR_005200 disease phenotype-associated VAR_005200 phenoCommon Emery-Dreifuss muscular dystrophy type 1 (EDMD1) [MIM:310300] VAR_005202 commonName VAR_005202 VAR_005202 disease not phenotype-associated VAR_005203 commonName VAR_005203 VAR_005203 disease phenotype-associated VAR_005203 phenoCommon Branchiootorenal syndrome type 1 (BOR1) [MIM:113650] VAR_005204 commonName VAR_005204 VAR_005204 disease phenotype-associated VAR_005204 phenoCommon Branchiootorenal syndrome type 1 (BOR1) [MIM:113650] VAR_005205 commonName VAR_005205 VAR_005205 disease phenotype-associated VAR_005205 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700] VAR_005206 commonName VAR_005206 VAR_005206 disease phenotype-associated VAR_005206 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700] VAR_005207 commonName VAR_005207 VAR_005207 disease phenotype-associated VAR_005207 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700] VAR_005208 commonName VAR_005208 VAR_005208 disease phenotype-associated VAR_005208 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700] VAR_005209 commonName VAR_005209 VAR_005209 disease phenotype-associated VAR_005209 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700] VAR_005210 commonName VAR_005210 VAR_005210 disease phenotype-associated VAR_005210 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700] VAR_005211 commonName VAR_005211 VAR_005211 disease phenotype-associated VAR_005211 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700] VAR_005212 commonName VAR_005212 VAR_005212 disease phenotype-associated VAR_005212 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700] VAR_005213 commonName VAR_005213 VAR_005213 disease phenotype-associated VAR_005213 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700] VAR_005214 commonName VAR_005214 VAR_005214 disease phenotype-associated VAR_005214 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700] VAR_005215 commonName VAR_005215 VAR_005215 disease phenotype-associated VAR_005215 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700] VAR_005216 commonName VAR_005216 VAR_005216 disease phenotype-associated VAR_005216 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700] VAR_005217 commonName VAR_005217 VAR_005217 disease phenotype-associated VAR_005217 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700] VAR_005218 commonName VAR_005218 VAR_005218 disease phenotype-associated VAR_005218 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700] VAR_005219 commonName VAR_005219 VAR_005219 disease phenotype-associated VAR_005219 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700] VAR_005220 commonName VAR_005220 VAR_005220 disease phenotype-associated VAR_005220 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700] VAR_005225 commonName VAR_005225 VAR_005225 disease not phenotype-associated VAR_005226 commonName VAR_005226 VAR_005226 disease not phenotype-associated VAR_005227 commonName VAR_005227 VAR_005227 disease not phenotype-associated VAR_005228 commonName VAR_005228 VAR_005228 disease not phenotype-associated VAR_005229 commonName VAR_005229 VAR_005229 disease not phenotype-associated VAR_005230 commonName VAR_005230 VAR_005230 disease not phenotype-associated VAR_005231 commonName VAR_005231 VAR_005231 disease not phenotype-associated VAR_005234 commonName VAR_005234 VAR_005234 disease phenotype-associated VAR_005234 phenoCommon Fragile X syndrome (FRAX) [MIM:300624] VAR_005235 commonName VAR_005235 VAR_005235 disease not phenotype-associated VAR_005237 commonName VAR_005237 VAR_005237 disease phenotype-associated VAR_005237 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_005238 commonName VAR_005238 VAR_005238 disease phenotype-associated VAR_005238 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_005239 commonName VAR_005239 VAR_005239 disease phenotype-associated VAR_005239 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_005240 commonName VAR_005240 VAR_005240 disease phenotype-associated VAR_005240 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_005241 commonName VAR_005241 VAR_005241 disease phenotype-associated VAR_005241 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_005242 commonName VAR_005242 VAR_005242 disease phenotype-associated VAR_005242 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_005243 commonName VAR_005243 VAR_005243 disease phenotype-associated VAR_005243 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_005244 commonName VAR_005244 VAR_005244 disease phenotype-associated VAR_005244 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_005245 commonName VAR_005245 VAR_005245 disease phenotype-associated VAR_005245 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_005246 commonName VAR_005246 VAR_005246 disease phenotype-associated VAR_005246 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_005247 commonName VAR_005247 VAR_005247 disease phenotype-associated VAR_005247 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_005248 commonName VAR_005248 VAR_005248 disease phenotype-associated VAR_005248 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_005249 commonName VAR_005249 VAR_005249 disease phenotype-associated VAR_005249 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_005250 commonName VAR_005250 VAR_005250 disease phenotype-associated VAR_005250 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_005251 commonName VAR_005251 VAR_005251 disease phenotype-associated VAR_005251 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_005253 commonName VAR_005253 VAR_005253 disease phenotype-associated VAR_005253 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_005254 commonName VAR_005254 VAR_005254 disease phenotype-associated VAR_005254 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_005263 commonName VAR_005263 VAR_005263 disease phenotype-associated VAR_005263 phenoCommon Bernard-Soulier syndrome (BSS) [MIM:231200] VAR_005264 commonName VAR_005264 VAR_005264 disease phenotype-associated VAR_005264 phenoCommon Bernard-Soulier syndrome (BSS) [MIM:231200] VAR_005265 commonName VAR_005265 VAR_005265 disease not phenotype-associated VAR_005266 commonName VAR_005266 VAR_005266 disease phenotype-associated VAR_005266 phenoCommon Alopecia universalis congenita (ALUNC) [MIM:203655] VAR_005267 commonName VAR_005267 VAR_005267 disease phenotype-associated VAR_005267 phenoCommon Alopecia universalis congenita (ALUNC) [MIM:203655] VAR_005269 commonName VAR_005269 VAR_005269 disease not phenotype-associated VAR_005272 commonName VAR_005272 VAR_005272 disease phenotype-associated VAR_005272 phenoCommon Alkaptonuria (AKU) [MIM:203500] VAR_005273 commonName VAR_005273 VAR_005273 disease phenotype-associated VAR_005273 phenoCommon Alkaptonuria (AKU) [MIM:203500] VAR_005274 commonName VAR_005274 VAR_005274 disease phenotype-associated VAR_005274 phenoCommon Alkaptonuria (AKU) [MIM:203500] VAR_005275 commonName VAR_005275 VAR_005275 disease phenotype-associated VAR_005275 phenoCommon Alkaptonuria (AKU) [MIM:203500] VAR_005276 commonName VAR_005276 VAR_005276 disease phenotype-associated VAR_005276 phenoCommon Alkaptonuria (AKU) [MIM:203500] VAR_005277 commonName VAR_005277 VAR_005277 disease phenotype-associated VAR_005277 phenoCommon Alkaptonuria (AKU) [MIM:203500] VAR_005278 commonName VAR_005278 VAR_005278 disease phenotype-associated VAR_005278 phenoCommon Alkaptonuria (AKU) [MIM:203500] VAR_005279 commonName VAR_005279 VAR_005279 disease phenotype-associated VAR_005279 phenoCommon Alkaptonuria (AKU) [MIM:203500] VAR_005280 commonName VAR_005280 VAR_005280 disease phenotype-associated VAR_005280 phenoCommon Alkaptonuria (AKU) [MIM:203500] VAR_005281 commonName VAR_005281 VAR_005281 disease phenotype-associated VAR_005281 phenoCommon Alkaptonuria (AKU) [MIM:203500] VAR_005282 commonName VAR_005282 VAR_005282 disease phenotype-associated VAR_005282 phenoCommon Alkaptonuria (AKU) [MIM:203500] VAR_005283 commonName VAR_005283 VAR_005283 disease phenotype-associated VAR_005283 phenoCommon Alkaptonuria (AKU) [MIM:203500] VAR_005284 commonName VAR_005284 VAR_005284 disease phenotype-associated VAR_005284 phenoCommon Alkaptonuria (AKU) [MIM:203500] VAR_005285 commonName VAR_005285 VAR_005285 disease phenotype-associated VAR_005285 phenoCommon Alkaptonuria (AKU) [MIM:203500] VAR_005286 commonName VAR_005286 VAR_005286 disease phenotype-associated VAR_005286 phenoCommon Alkaptonuria (AKU) [MIM:203500] VAR_005288 commonName VAR_005288 VAR_005288 disease not phenotype-associated VAR_005290 commonName VAR_005290 VAR_005290 disease not phenotype-associated VAR_005291 commonName VAR_005291 VAR_005291 disease not phenotype-associated VAR_005292 commonName VAR_005292 VAR_005292 disease not phenotype-associated VAR_005293 commonName VAR_005293 VAR_005293 disease not phenotype-associated VAR_005294 commonName VAR_005294 VAR_005294 disease not phenotype-associated VAR_005295 commonName VAR_005295 VAR_005295 disease not phenotype-associated VAR_005296 commonName VAR_005296 VAR_005296 disease not phenotype-associated VAR_005297 commonName VAR_005297 VAR_005297 disease not phenotype-associated VAR_005299 commonName VAR_005299 VAR_005299 disease not phenotype-associated VAR_005300 commonName VAR_005300 VAR_005300 disease not phenotype-associated VAR_005302 commonName VAR_005302 VAR_005302 disease phenotype-associated VAR_005302 phenoCommon The etiology of non-insulin-dependent diabetes mellitus (NIDDM) [MIM:125853] VAR_005303 commonName VAR_005303 VAR_005303 disease phenotype-associated VAR_005303 phenoCommon The etiology of non-insulin-dependent diabetes mellitus (NIDDM) [MIM:125853] VAR_005304 commonName VAR_005304 VAR_005306 commonName VAR_005306 VAR_005307 commonName VAR_005307 VAR_005307 disease phenotype-associated VAR_005307 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005308 commonName VAR_005308 VAR_005308 disease phenotype-associated VAR_005308 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005309 commonName VAR_005309 VAR_005309 disease phenotype-associated VAR_005309 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005310 commonName VAR_005310 VAR_005311 commonName VAR_005311 VAR_005311 disease phenotype-associated VAR_005311 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005312 commonName VAR_005312 VAR_005312 disease phenotype-associated VAR_005312 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005313 commonName VAR_005313 VAR_005313 disease phenotype-associated VAR_005313 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005314 commonName VAR_005314 VAR_005314 disease phenotype-associated VAR_005314 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005315 commonName VAR_005315 VAR_005315 disease phenotype-associated VAR_005315 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005316 commonName VAR_005316 VAR_005317 commonName VAR_005317 VAR_005317 disease phenotype-associated VAR_005317 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005318 commonName VAR_005318 VAR_005318 disease phenotype-associated VAR_005318 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005319 commonName VAR_005319 VAR_005320 commonName VAR_005320 VAR_005320 disease phenotype-associated VAR_005320 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005321 commonName VAR_005321 VAR_005321 disease phenotype-associated VAR_005321 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005322 commonName VAR_005322 VAR_005322 disease phenotype-associated VAR_005322 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005323 commonName VAR_005323 VAR_005323 disease phenotype-associated VAR_005323 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005324 commonName VAR_005324 VAR_005325 commonName VAR_005325 VAR_005325 disease phenotype-associated VAR_005325 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005326 commonName VAR_005326 VAR_005326 disease phenotype-associated VAR_005326 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005327 commonName VAR_005327 VAR_005327 disease phenotype-associated VAR_005327 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005328 commonName VAR_005328 VAR_005329 commonName VAR_005329 VAR_005330 commonName VAR_005330 VAR_005330 disease phenotype-associated VAR_005330 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005332 commonName VAR_005332 VAR_005332 disease phenotype-associated VAR_005332 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005333 commonName VAR_005333 VAR_005333 disease phenotype-associated VAR_005333 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005334 commonName VAR_005334 VAR_005335 commonName VAR_005335 VAR_005336 commonName VAR_005336 VAR_005336 disease phenotype-associated VAR_005336 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005337 commonName VAR_005337 VAR_005338 commonName VAR_005338 VAR_005338 disease phenotype-associated VAR_005338 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005340 commonName VAR_005340 VAR_005341 commonName VAR_005341 VAR_005341 disease phenotype-associated VAR_005341 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005342 commonName VAR_005342 VAR_005342 disease phenotype-associated VAR_005342 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005343 commonName VAR_005343 VAR_005344 commonName VAR_005344 VAR_005345 commonName VAR_005345 VAR_005345 disease phenotype-associated VAR_005345 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005346 commonName VAR_005346 VAR_005347 commonName VAR_005347 VAR_005348 commonName VAR_005348 VAR_005349 commonName VAR_005349 VAR_005349 disease phenotype-associated VAR_005349 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005350 commonName VAR_005350 VAR_005350 disease phenotype-associated VAR_005350 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005351 commonName VAR_005351 VAR_005352 commonName VAR_005352 VAR_005352 disease phenotype-associated VAR_005352 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005353 commonName VAR_005353 VAR_005353 disease phenotype-associated VAR_005353 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005354 commonName VAR_005354 VAR_005354 disease phenotype-associated VAR_005354 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005355 commonName VAR_005355 VAR_005356 commonName VAR_005356 VAR_005357 commonName VAR_005357 VAR_005357 disease not phenotype-associated VAR_005358 commonName VAR_005358 VAR_005358 disease phenotype-associated VAR_005358 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005359 commonName VAR_005359 VAR_005360 commonName VAR_005360 VAR_005360 disease phenotype-associated VAR_005360 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005361 commonName VAR_005361 VAR_005361 disease phenotype-associated VAR_005361 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005362 commonName VAR_005362 VAR_005362 disease phenotype-associated VAR_005362 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005363 commonName VAR_005363 VAR_005364 commonName VAR_005364 VAR_005364 disease phenotype-associated VAR_005364 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005365 commonName VAR_005365 VAR_005366 commonName VAR_005366 VAR_005366 disease phenotype-associated VAR_005366 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005367 commonName VAR_005367 VAR_005368 commonName VAR_005368 VAR_005368 disease phenotype-associated VAR_005368 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005369 commonName VAR_005369 VAR_005370 commonName VAR_005370 VAR_005371 commonName VAR_005371 VAR_005372 commonName VAR_005372 VAR_005373 commonName VAR_005373 VAR_005374 commonName VAR_005374 VAR_005374 disease phenotype-associated VAR_005374 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005375 commonName VAR_005375 VAR_005376 commonName VAR_005376 VAR_005376 disease phenotype-associated VAR_005376 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005377 commonName VAR_005377 VAR_005378 commonName VAR_005378 VAR_005379 commonName VAR_005379 VAR_005379 disease phenotype-associated VAR_005379 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005380 commonName VAR_005380 VAR_005380 disease phenotype-associated VAR_005380 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005381 commonName VAR_005381 VAR_005381 disease phenotype-associated VAR_005381 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005382 commonName VAR_005382 VAR_005382 disease phenotype-associated VAR_005382 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005383 commonName VAR_005383 VAR_005383 disease phenotype-associated VAR_005383 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005384 commonName VAR_005384 VAR_005384 disease phenotype-associated VAR_005384 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005385 commonName VAR_005385 VAR_005385 disease phenotype-associated VAR_005385 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005386 commonName VAR_005386 VAR_005387 commonName VAR_005387 VAR_005388 commonName VAR_005388 VAR_005389 commonName VAR_005389 VAR_005390 commonName VAR_005390 VAR_005391 commonName VAR_005391 VAR_005391 disease phenotype-associated VAR_005391 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005392 commonName VAR_005392 VAR_005392 disease phenotype-associated VAR_005392 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005394 commonName VAR_005394 VAR_005395 commonName VAR_005395 VAR_005395 disease not phenotype-associated VAR_005396 commonName VAR_005396 VAR_005397 commonName VAR_005397 VAR_005397 disease not phenotype-associated VAR_005398 commonName VAR_005398 VAR_005398 disease not phenotype-associated VAR_005399 commonName VAR_005399 VAR_005399 disease phenotype-associated VAR_005399 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005400 commonName VAR_005400 VAR_005400 disease phenotype-associated VAR_005400 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005401 commonName VAR_005401 VAR_005401 disease not phenotype-associated VAR_005402 commonName VAR_005402 VAR_005402 disease phenotype-associated VAR_005402 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005403 commonName VAR_005403 VAR_005403 disease phenotype-associated VAR_005403 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_005421 commonName VAR_005421 VAR_005421 disease not phenotype-associated VAR_005422 commonName VAR_005422 VAR_005422 disease not phenotype-associated VAR_005423 commonName VAR_005423 VAR_005423 disease not phenotype-associated VAR_005424 commonName VAR_005424 VAR_005424 disease not phenotype-associated VAR_005425 commonName VAR_005425 VAR_005425 disease phenotype-associated VAR_005425 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_005426 commonName VAR_005426 VAR_005426 disease phenotype-associated VAR_005426 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_005427 commonName VAR_005427 VAR_005427 disease phenotype-associated VAR_005427 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_005428 commonName VAR_005428 VAR_005428 disease phenotype-associated VAR_005428 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_005429 commonName VAR_005429 VAR_005429 disease phenotype-associated VAR_005429 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_005430 commonName VAR_005430 VAR_005430 disease phenotype-associated VAR_005430 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_005432 commonName VAR_005432 VAR_005432 disease phenotype-associated VAR_005432 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_005433 commonName VAR_005433 VAR_005433 disease phenotype-associated VAR_005433 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_005434 commonName VAR_005434 VAR_005434 disease phenotype-associated VAR_005434 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_005436 commonName VAR_005436 VAR_005436 disease phenotype-associated VAR_005436 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_005437 commonName VAR_005437 VAR_005437 disease phenotype-associated VAR_005437 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_005438 commonName VAR_005438 VAR_005438 disease phenotype-associated VAR_005438 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_005440 commonName VAR_005440 VAR_005440 disease not phenotype-associated VAR_005441 commonName VAR_005441 VAR_005441 disease phenotype-associated VAR_005441 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_005442 commonName VAR_005442 VAR_005442 disease phenotype-associated VAR_005442 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_005443 commonName VAR_005443 VAR_005443 disease phenotype-associated VAR_005443 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_005444 commonName VAR_005444 VAR_005444 disease phenotype-associated VAR_005444 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_005445 commonName VAR_005445 VAR_005445 disease phenotype-associated VAR_005445 phenoCommon Familial isolated hyperparathyroidism (FIHP) [MIM:145000] VAR_005446 commonName VAR_005446 VAR_005446 disease phenotype-associated VAR_005446 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_005447 commonName VAR_005447 VAR_005447 disease phenotype-associated VAR_005447 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_005448 commonName VAR_005448 VAR_005448 disease phenotype-associated VAR_005448 phenoCommon Familial isolated hyperparathyroidism (FIHP) [MIM:145000] VAR_005449 commonName VAR_005449 VAR_005449 disease phenotype-associated VAR_005449 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_005450 commonName VAR_005450 VAR_005450 disease phenotype-associated VAR_005450 phenoCommon Familial isolated hyperparathyroidism (FIHP) [MIM:145000] VAR_005451 commonName VAR_005451 VAR_005451 disease phenotype-associated VAR_005451 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_005452 commonName VAR_005452 VAR_005452 disease phenotype-associated VAR_005452 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_005453 commonName VAR_005453 VAR_005453 disease phenotype-associated VAR_005453 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_005454 commonName VAR_005454 VAR_005454 disease phenotype-associated VAR_005454 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_005455 commonName VAR_005455 VAR_005455 disease phenotype-associated VAR_005455 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_005456 commonName VAR_005456 VAR_005456 disease phenotype-associated VAR_005456 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_005457 commonName VAR_005457 VAR_005457 disease phenotype-associated VAR_005457 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_005458 commonName VAR_005458 VAR_005458 disease phenotype-associated VAR_005458 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_005460 commonName VAR_005460 VAR_005460 disease phenotype-associated VAR_005460 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_005461 commonName VAR_005461 VAR_005461 disease phenotype-associated VAR_005461 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_005464 commonName VAR_005464 VAR_005464 disease phenotype-associated VAR_005464 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_005465 commonName VAR_005465 VAR_005465 disease phenotype-associated VAR_005465 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_005466 commonName VAR_005466 VAR_005466 disease not phenotype-associated VAR_005467 commonName VAR_005467 VAR_005467 disease phenotype-associated VAR_005467 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_005468 commonName VAR_005468 VAR_005468 disease phenotype-associated VAR_005468 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_005469 commonName VAR_005469 VAR_005469 disease phenotype-associated VAR_005469 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_005470 commonName VAR_005470 VAR_005470 disease phenotype-associated VAR_005470 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_005471 commonName VAR_005471 VAR_005471 disease phenotype-associated VAR_005471 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_005472 commonName VAR_005472 VAR_005472 disease phenotype-associated VAR_005472 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_005473 commonName VAR_005473 VAR_005473 disease phenotype-associated VAR_005473 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_005474 commonName VAR_005474 VAR_005474 disease phenotype-associated VAR_005474 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_005475 commonName VAR_005475 VAR_005475 disease phenotype-associated VAR_005475 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_005476 commonName VAR_005476 VAR_005476 disease phenotype-associated VAR_005476 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_005477 commonName VAR_005477 VAR_005477 disease phenotype-associated VAR_005477 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_005478 commonName VAR_005478 VAR_005478 disease phenotype-associated VAR_005478 phenoCommon Norrie disease (ND) [MIM:310600] VAR_005479 commonName VAR_005479 VAR_005479 disease phenotype-associated VAR_005479 phenoCommon Norrie disease (ND) [MIM:310600] VAR_005480 commonName VAR_005480 VAR_005480 disease phenotype-associated VAR_005480 phenoCommon Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390] VAR_005481 commonName VAR_005481 VAR_005481 disease phenotype-associated VAR_005481 phenoCommon Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390] VAR_005482 commonName VAR_005482 VAR_005482 disease phenotype-associated VAR_005482 phenoCommon Norrie disease (ND) [MIM:310600] VAR_005483 commonName VAR_005483 VAR_005483 disease phenotype-associated VAR_005483 phenoCommon Norrie disease (ND) [MIM:310600] VAR_005483 phenoCommon Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390] VAR_005484 commonName VAR_005484 VAR_005484 disease phenotype-associated VAR_005484 phenoCommon Norrie disease (ND) [MIM:310600] VAR_005485 commonName VAR_005485 VAR_005485 disease phenotype-associated VAR_005485 phenoCommon Norrie disease (ND) [MIM:310600] VAR_005486 commonName VAR_005486 VAR_005486 disease phenotype-associated VAR_005486 phenoCommon Norrie disease (ND) [MIM:310600] VAR_005487 commonName VAR_005487 VAR_005487 disease phenotype-associated VAR_005487 phenoCommon Norrie disease (ND) [MIM:310600] VAR_005488 commonName VAR_005488 VAR_005488 disease phenotype-associated VAR_005488 phenoCommon Norrie disease (ND) [MIM:310600] VAR_005489 commonName VAR_005489 VAR_005489 disease phenotype-associated VAR_005489 phenoCommon Norrie disease (ND) [MIM:310600] VAR_005490 commonName VAR_005490 VAR_005490 disease phenotype-associated VAR_005490 phenoCommon Norrie disease (ND) [MIM:310600] VAR_005491 commonName VAR_005491 VAR_005491 disease phenotype-associated VAR_005491 phenoCommon Norrie disease (ND) [MIM:310600] VAR_005492 commonName VAR_005492 VAR_005492 disease phenotype-associated VAR_005492 phenoCommon Norrie disease (ND) [MIM:310600] VAR_005494 commonName VAR_005494 VAR_005494 disease phenotype-associated VAR_005494 phenoCommon Norrie disease (ND) [MIM:310600] VAR_005496 commonName VAR_005496 VAR_005496 disease phenotype-associated VAR_005496 phenoCommon Norrie disease (ND) [MIM:310600] VAR_005497 commonName VAR_005497 VAR_005497 disease phenotype-associated VAR_005497 phenoCommon Norrie disease (ND) [MIM:310600] VAR_005498 commonName VAR_005498 VAR_005498 disease phenotype-associated VAR_005498 phenoCommon Norrie disease (ND) [MIM:310600] VAR_005499 commonName VAR_005499 VAR_005499 disease phenotype-associated VAR_005499 phenoCommon Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390] VAR_005500 commonName VAR_005500 VAR_005500 disease phenotype-associated VAR_005500 phenoCommon Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390] VAR_005501 commonName VAR_005501 VAR_005501 disease phenotype-associated VAR_005501 phenoCommon Norrie disease (ND) [MIM:310600] VAR_005501 phenoCommon Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390] VAR_005502 commonName VAR_005502 VAR_005502 disease phenotype-associated VAR_005502 phenoCommon Norrie disease (ND) [MIM:310600] VAR_005502 phenoCommon Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390] VAR_005504 commonName VAR_005504 VAR_005504 disease phenotype-associated VAR_005504 phenoCommon Norrie disease (ND) [MIM:310600] VAR_005505 commonName VAR_005505 VAR_005505 disease phenotype-associated VAR_005505 phenoCommon Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390] VAR_005506 commonName VAR_005506 VAR_005506 disease not phenotype-associated VAR_005507 commonName VAR_005507 VAR_005507 disease phenotype-associated VAR_005507 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500] VAR_005508 commonName VAR_005508 VAR_005508 disease phenotype-associated VAR_005508 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500] VAR_005509 commonName VAR_005509 VAR_005509 disease phenotype-associated VAR_005509 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500] VAR_005510 commonName VAR_005510 VAR_005510 disease phenotype-associated VAR_005510 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500] VAR_005511 commonName VAR_005511 VAR_005511 disease phenotype-associated VAR_005511 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500] VAR_005513 commonName VAR_005513 VAR_005513 disease phenotype-associated VAR_005513 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500] VAR_005514 commonName VAR_005514 VAR_005514 disease phenotype-associated VAR_005514 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500] VAR_005515 commonName VAR_005515 VAR_005515 disease phenotype-associated VAR_005515 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500] VAR_005516 commonName VAR_005516 VAR_005516 disease phenotype-associated VAR_005516 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500] VAR_005517 commonName VAR_005517 VAR_005517 disease phenotype-associated VAR_005517 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500] VAR_005518 commonName VAR_005518 VAR_005518 disease phenotype-associated VAR_005518 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500] VAR_005520 commonName VAR_005520 VAR_005520 disease phenotype-associated VAR_005520 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500] VAR_005521 commonName VAR_005521 VAR_005521 disease not phenotype-associated VAR_005522 commonName VAR_005522 VAR_005522 disease not phenotype-associated VAR_005524 commonName VAR_005524 VAR_005524 disease not phenotype-associated VAR_005527 commonName VAR_005527 VAR_005528 commonName VAR_005528 VAR_005528 disease phenotype-associated VAR_005528 phenoCommon BH4-deficient hyperphenylalaninemia type D (HPABH4D) [MIM:264070] VAR_005529 commonName VAR_005529 VAR_005529 disease phenotype-associated VAR_005529 phenoCommon BH4-deficient hyperphenylalaninemia type D (HPABH4D) [MIM:264070] VAR_005530 commonName VAR_005530 VAR_005530 disease phenotype-associated VAR_005530 phenoCommon BH4-deficient hyperphenylalaninemia type D (HPABH4D) [MIM:264070] VAR_005531 commonName VAR_005531 VAR_005531 disease phenotype-associated VAR_005531 phenoCommon Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:300818] VAR_005532 commonName VAR_005532 VAR_005532 disease phenotype-associated VAR_005532 phenoCommon Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:300818] VAR_005533 commonName VAR_005533 VAR_005533 disease not phenotype-associated VAR_005535 commonName VAR_005535 VAR_005535 disease phenotype-associated VAR_005535 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_005536 commonName VAR_005536 VAR_005536 disease not phenotype-associated VAR_005537 commonName VAR_005537 VAR_005538 commonName VAR_005538 VAR_005538 disease phenotype-associated VAR_005538 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_005539 commonName VAR_005539 VAR_005539 disease phenotype-associated VAR_005539 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_005541 commonName VAR_005541 VAR_005541 disease phenotype-associated VAR_005541 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_005542 commonName VAR_005542 VAR_005542 disease phenotype-associated VAR_005542 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_005543 commonName VAR_005543 VAR_005543 disease phenotype-associated VAR_005543 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_005545 commonName VAR_005545 VAR_005545 disease phenotype-associated VAR_005545 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_005546 commonName VAR_005546 VAR_005546 disease not phenotype-associated VAR_005547 commonName VAR_005547 VAR_005547 disease not phenotype-associated VAR_005548 commonName VAR_005548 VAR_005548 disease phenotype-associated VAR_005548 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] VAR_005549 commonName VAR_005549 VAR_005549 disease phenotype-associated VAR_005549 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] VAR_005550 commonName VAR_005550 VAR_005550 disease phenotype-associated VAR_005550 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] VAR_005551 commonName VAR_005551 VAR_005551 disease phenotype-associated VAR_005551 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] VAR_005552 commonName VAR_005552 VAR_005552 disease phenotype-associated VAR_005552 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] VAR_005553 commonName VAR_005553 VAR_005553 disease phenotype-associated VAR_005553 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] VAR_005554 commonName VAR_005554 VAR_005554 disease not phenotype-associated VAR_005555 commonName VAR_005555 VAR_005555 disease phenotype-associated VAR_005555 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] VAR_005556 commonName VAR_005556 VAR_005556 disease phenotype-associated VAR_005556 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] VAR_005557 commonName VAR_005557 VAR_005557 disease phenotype-associated VAR_005557 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] VAR_005558 commonName VAR_005558 VAR_005558 disease phenotype-associated VAR_005558 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] VAR_005559 commonName VAR_005559 VAR_005559 disease phenotype-associated VAR_005559 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] VAR_005560 commonName VAR_005560 VAR_005560 disease phenotype-associated VAR_005560 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] VAR_005563 commonName VAR_005563 VAR_005563 disease not phenotype-associated VAR_005564 commonName VAR_005564 VAR_005564 disease not phenotype-associated VAR_005565 commonName VAR_005565 VAR_005565 disease not phenotype-associated VAR_005566 commonName VAR_005566 VAR_005566 disease phenotype-associated VAR_005566 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_005567 commonName VAR_005567 VAR_005567 disease phenotype-associated VAR_005567 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_005568 commonName VAR_005568 VAR_005569 commonName VAR_005569 VAR_005569 disease not phenotype-associated VAR_005570 commonName VAR_005570 VAR_005570 disease phenotype-associated VAR_005570 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457] VAR_005571 commonName VAR_005571 VAR_005571 disease phenotype-associated VAR_005571 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457] VAR_005572 commonName VAR_005572 VAR_005572 disease phenotype-associated VAR_005572 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200] VAR_005573 commonName VAR_005573 VAR_005573 disease phenotype-associated VAR_005573 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200] VAR_005574 commonName VAR_005574 VAR_005574 disease phenotype-associated VAR_005574 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200] VAR_005575 commonName VAR_005575 VAR_005575 disease phenotype-associated VAR_005575 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200] VAR_005576 commonName VAR_005576 VAR_005576 disease phenotype-associated VAR_005576 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200] VAR_005578 commonName VAR_005578 VAR_005578 disease phenotype-associated VAR_005578 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200] VAR_005579 commonName VAR_005579 VAR_005579 disease phenotype-associated VAR_005579 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200] VAR_005580 commonName VAR_005580 VAR_005580 disease phenotype-associated VAR_005580 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200] VAR_005581 commonName VAR_005581 VAR_005581 disease phenotype-associated VAR_005581 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200] VAR_005582 commonName VAR_005582 VAR_005582 disease phenotype-associated VAR_005582 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200] VAR_005583 commonName VAR_005583 VAR_005583 disease phenotype-associated VAR_005583 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200] VAR_005584 commonName VAR_005584 VAR_005584 disease phenotype-associated VAR_005584 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200] VAR_005585 commonName VAR_005585 VAR_005585 disease phenotype-associated VAR_005585 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200] VAR_005586 commonName VAR_005586 VAR_005586 disease phenotype-associated VAR_005586 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200] VAR_005587 commonName VAR_005587 VAR_005587 disease phenotype-associated VAR_005587 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200] VAR_005588 commonName VAR_005588 VAR_005588 disease phenotype-associated VAR_005588 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200] VAR_005589 commonName VAR_005589 VAR_005589 disease phenotype-associated VAR_005589 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_005590 commonName VAR_005590 VAR_005590 disease phenotype-associated VAR_005590 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_005590 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_005591 commonName VAR_005591 VAR_005592 commonName VAR_005592 VAR_005592 disease phenotype-associated VAR_005592 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_005593 commonName VAR_005593 VAR_005593 disease phenotype-associated VAR_005593 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_005593 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_005594 commonName VAR_005594 VAR_005594 disease not phenotype-associated VAR_005595 commonName VAR_005595 VAR_005595 disease phenotype-associated VAR_005595 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_005595 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_005596 commonName VAR_005596 VAR_005596 disease phenotype-associated VAR_005596 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_005597 commonName VAR_005597 VAR_005597 disease phenotype-associated VAR_005597 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_005597 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_005598 commonName VAR_005598 VAR_005598 disease phenotype-associated VAR_005598 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_005599 commonName VAR_005599 VAR_005599 disease not phenotype-associated VAR_005600 commonName VAR_005600 VAR_005600 disease not phenotype-associated VAR_005601 commonName VAR_005601 VAR_005601 disease phenotype-associated VAR_005601 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_005602 commonName VAR_005602 VAR_005602 disease phenotype-associated VAR_005602 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_005602 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_005603 commonName VAR_005603 VAR_005603 disease phenotype-associated VAR_005603 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_005603 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_005604 commonName VAR_005604 VAR_005604 disease phenotype-associated VAR_005604 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_005605 commonName VAR_005605 VAR_005605 disease phenotype-associated VAR_005605 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_005606 commonName VAR_005606 VAR_005606 disease phenotype-associated VAR_005606 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_005606 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_005609 commonName VAR_005609 VAR_005609 disease phenotype-associated VAR_005609 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] VAR_005610 commonName VAR_005610 VAR_005610 disease not phenotype-associated VAR_005612 commonName VAR_005612 VAR_005612 disease phenotype-associated VAR_005612 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] VAR_005613 commonName VAR_005613 VAR_005613 disease phenotype-associated VAR_005613 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] VAR_005614 commonName VAR_005614 VAR_005614 disease phenotype-associated VAR_005614 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] VAR_005615 commonName VAR_005615 VAR_005615 disease phenotype-associated VAR_005615 phenoCommon Spinal muscular atrophy autosomal recessive type 2 (SMA2) [MIM:253550] VAR_005615 phenoCommon Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400] VAR_005616 commonName VAR_005616 VAR_005616 disease phenotype-associated VAR_005616 phenoCommon Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400] VAR_005617 commonName VAR_005617 VAR_005617 disease phenotype-associated VAR_005617 phenoCommon Spinal muscular atrophy autosomal recessive type 1 (SMA1) [MIM:253300] VAR_005618 commonName VAR_005618 VAR_005618 disease phenotype-associated VAR_005618 phenoCommon Spinal muscular atrophy autosomal recessive type 2 (SMA2) [MIM:253550] VAR_005618 phenoCommon Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400] VAR_005619 commonName VAR_005619 VAR_005619 disease phenotype-associated VAR_005619 phenoCommon Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400] VAR_005620 commonName VAR_005620 VAR_005620 disease phenotype-associated VAR_005620 phenoCommon Spinal muscular atrophy autosomal recessive type 1 (SMA1) [MIM:253300] VAR_005621 commonName VAR_005621 VAR_005621 disease not phenotype-associated VAR_005622 commonName VAR_005622 VAR_005623 commonName VAR_005623 VAR_005623 disease not phenotype-associated VAR_005625 commonName VAR_005625 VAR_005625 disease not phenotype-associated VAR_005626 commonName VAR_005626 VAR_005626 disease not phenotype-associated VAR_005627 commonName VAR_005627 VAR_005627 disease phenotype-associated VAR_005627 phenoCommon Adrenal hyperplasia type 1 (AH1) [MIM:201710] VAR_005628 commonName VAR_005628 VAR_005628 disease not phenotype-associated VAR_005629 commonName VAR_005629 VAR_005629 disease not phenotype-associated VAR_005630 commonName VAR_005630 VAR_005630 disease phenotype-associated VAR_005630 phenoCommon Treacher Collins syndrome type 1 (TCS1) [MIM:154500] VAR_005631 commonName VAR_005631 VAR_005631 disease not phenotype-associated VAR_005632 commonName VAR_005632 VAR_005632 disease not phenotype-associated VAR_005633 commonName VAR_005633 VAR_005633 disease not phenotype-associated VAR_005634 commonName VAR_005634 VAR_005634 disease not phenotype-associated VAR_005635 commonName VAR_005635 VAR_005635 disease not phenotype-associated VAR_005636 commonName VAR_005636 VAR_005636 disease not phenotype-associated VAR_005637 commonName VAR_005637 VAR_005637 disease phenotype-associated VAR_005637 phenoCommon Thiopurine S-methyltransferase deficiency (TPMT deficiency) [MIM:610460] VAR_005638 commonName VAR_005638 VAR_005638 disease phenotype-associated VAR_005638 phenoCommon Thiopurine S-methyltransferase deficiency (TPMT deficiency) [MIM:610460] VAR_005639 commonName VAR_005639 VAR_005639 disease not phenotype-associated VAR_005642 commonName VAR_005642 VAR_005642 disease not phenotype-associated VAR_005646 commonName VAR_005646 VAR_005646 disease phenotype-associated VAR_005646 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_005647 commonName VAR_005647 VAR_005647 disease phenotype-associated VAR_005647 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_005648 commonName VAR_005648 VAR_005648 disease phenotype-associated VAR_005648 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_005649 commonName VAR_005649 VAR_005649 disease not phenotype-associated VAR_005650 commonName VAR_005650 VAR_005650 disease phenotype-associated VAR_005650 phenoCommon Lymphangioleiomyomatosis (LAM) [MIM:606690] VAR_005650 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_005651 commonName VAR_005651 VAR_005651 disease phenotype-associated VAR_005651 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_005652 commonName VAR_005652 VAR_005652 disease phenotype-associated VAR_005652 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_005653 commonName VAR_005653 VAR_005653 disease phenotype-associated VAR_005653 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_005654 commonName VAR_005654 VAR_005654 disease phenotype-associated VAR_005654 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_005655 commonName VAR_005655 VAR_005655 disease phenotype-associated VAR_005655 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_005656 commonName VAR_005656 VAR_005656 disease phenotype-associated VAR_005656 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_005657 commonName VAR_005657 VAR_005657 disease phenotype-associated VAR_005657 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_005658 commonName VAR_005658 VAR_005658 disease phenotype-associated VAR_005658 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_005659 commonName VAR_005659 VAR_005659 disease phenotype-associated VAR_005659 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_005661 commonName VAR_005661 VAR_005661 disease phenotype-associated VAR_005661 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_005663 commonName VAR_005663 VAR_005663 disease phenotype-associated VAR_005663 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_005664 commonName VAR_005664 VAR_005664 disease phenotype-associated VAR_005664 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_005665 commonName VAR_005665 VAR_005665 disease phenotype-associated VAR_005665 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_005666 commonName VAR_005666 VAR_005666 disease phenotype-associated VAR_005666 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_005667 commonName VAR_005667 VAR_005667 disease phenotype-associated VAR_005667 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_005668 commonName VAR_005668 VAR_005668 disease phenotype-associated VAR_005668 phenoCommon Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460] VAR_005670 commonName VAR_005670 VAR_005670 disease phenotype-associated VAR_005670 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005671 commonName VAR_005671 VAR_005671 disease phenotype-associated VAR_005671 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005672 commonName VAR_005672 VAR_005672 disease phenotype-associated VAR_005672 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005673 commonName VAR_005673 VAR_005673 disease phenotype-associated VAR_005673 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005675 commonName VAR_005675 VAR_005675 disease phenotype-associated VAR_005675 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_005675 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005676 commonName VAR_005676 VAR_005676 disease phenotype-associated VAR_005676 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005677 commonName VAR_005677 VAR_005677 disease phenotype-associated VAR_005677 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005679 commonName VAR_005679 VAR_005679 disease phenotype-associated VAR_005679 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005680 commonName VAR_005680 VAR_005680 disease phenotype-associated VAR_005680 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005681 commonName VAR_005681 VAR_005681 disease phenotype-associated VAR_005681 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005682 commonName VAR_005682 VAR_005682 disease phenotype-associated VAR_005682 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005683 commonName VAR_005683 VAR_005683 disease phenotype-associated VAR_005683 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005684 commonName VAR_005684 VAR_005684 disease phenotype-associated VAR_005684 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005685 commonName VAR_005685 VAR_005685 disease phenotype-associated VAR_005685 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005686 commonName VAR_005686 VAR_005686 disease phenotype-associated VAR_005686 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005687 commonName VAR_005687 VAR_005687 disease phenotype-associated VAR_005687 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005688 commonName VAR_005688 VAR_005688 disease phenotype-associated VAR_005688 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_005688 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005689 commonName VAR_005689 VAR_005689 disease phenotype-associated VAR_005689 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005690 commonName VAR_005690 VAR_005690 disease phenotype-associated VAR_005690 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005692 commonName VAR_005692 VAR_005692 disease phenotype-associated VAR_005692 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005693 commonName VAR_005693 VAR_005693 disease phenotype-associated VAR_005693 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005694 commonName VAR_005694 VAR_005694 disease phenotype-associated VAR_005694 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005695 commonName VAR_005695 VAR_005695 disease phenotype-associated VAR_005695 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005696 commonName VAR_005696 VAR_005696 disease phenotype-associated VAR_005696 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005697 commonName VAR_005697 VAR_005697 disease phenotype-associated VAR_005697 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005698 commonName VAR_005698 VAR_005698 disease phenotype-associated VAR_005698 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005699 comment Lung cancer VAR_005699 commonName VAR_005699 VAR_005700 commonName VAR_005700 VAR_005700 disease phenotype-associated VAR_005700 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005701 commonName VAR_005701 VAR_005703 commonName VAR_005703 VAR_005703 disease phenotype-associated VAR_005703 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_005703 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005704 commonName VAR_005704 VAR_005704 disease phenotype-associated VAR_005704 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005705 commonName VAR_005705 VAR_005705 disease phenotype-associated VAR_005705 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_005705 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005706 commonName VAR_005706 VAR_005706 disease phenotype-associated VAR_005706 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005707 commonName VAR_005707 VAR_005707 disease phenotype-associated VAR_005707 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_005707 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005708 commonName VAR_005708 VAR_005708 disease phenotype-associated VAR_005708 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005709 commonName VAR_005709 VAR_005709 disease phenotype-associated VAR_005709 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005710 commonName VAR_005710 VAR_005711 commonName VAR_005711 VAR_005711 disease phenotype-associated VAR_005711 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005712 comment Lung cancer VAR_005712 commonName VAR_005712 VAR_005713 commonName VAR_005713 VAR_005713 disease phenotype-associated VAR_005713 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005714 commonName VAR_005714 VAR_005714 disease phenotype-associated VAR_005714 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005715 commonName VAR_005715 VAR_005715 disease phenotype-associated VAR_005715 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005716 commonName VAR_005716 VAR_005716 disease phenotype-associated VAR_005716 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005717 commonName VAR_005717 VAR_005717 disease phenotype-associated VAR_005717 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005718 commonName VAR_005718 VAR_005718 disease phenotype-associated VAR_005718 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005719 commonName VAR_005719 VAR_005719 disease phenotype-associated VAR_005719 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005720 commonName VAR_005720 VAR_005720 disease phenotype-associated VAR_005720 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005722 commonName VAR_005722 VAR_005722 disease phenotype-associated VAR_005722 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005723 commonName VAR_005723 VAR_005723 disease phenotype-associated VAR_005723 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005724 commonName VAR_005724 VAR_005724 disease phenotype-associated VAR_005724 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005725 commonName VAR_005725 VAR_005725 disease phenotype-associated VAR_005725 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005726 commonName VAR_005726 VAR_005726 disease phenotype-associated VAR_005726 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005727 commonName VAR_005727 VAR_005727 disease phenotype-associated VAR_005727 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005728 commonName VAR_005728 VAR_005728 disease phenotype-associated VAR_005728 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_005728 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005729 commonName VAR_005729 VAR_005729 disease phenotype-associated VAR_005729 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005730 commonName VAR_005730 VAR_005730 disease phenotype-associated VAR_005730 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005731 commonName VAR_005731 VAR_005731 disease phenotype-associated VAR_005731 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005733 commonName VAR_005733 VAR_005733 disease phenotype-associated VAR_005733 phenoCommon Familial erythrocytosis type 2 (ECYT2) [MIM:263400] VAR_005733 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005734 commonName VAR_005734 VAR_005734 disease phenotype-associated VAR_005734 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005735 commonName VAR_005735 VAR_005735 disease phenotype-associated VAR_005735 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005736 commonName VAR_005736 VAR_005736 disease phenotype-associated VAR_005736 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005737 commonName VAR_005737 VAR_005737 disease phenotype-associated VAR_005737 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_005737 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005738 commonName VAR_005738 VAR_005738 disease phenotype-associated VAR_005738 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005740 commonName VAR_005740 VAR_005740 disease phenotype-associated VAR_005740 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005741 commonName VAR_005741 VAR_005741 disease phenotype-associated VAR_005741 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005742 commonName VAR_005742 VAR_005742 disease phenotype-associated VAR_005742 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005743 commonName VAR_005743 VAR_005743 disease phenotype-associated VAR_005743 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_005743 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005744 commonName VAR_005744 VAR_005744 disease phenotype-associated VAR_005744 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005746 commonName VAR_005746 VAR_005746 disease phenotype-associated VAR_005746 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005748 commonName VAR_005748 VAR_005748 disease phenotype-associated VAR_005748 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005749 commonName VAR_005749 VAR_005749 disease phenotype-associated VAR_005749 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005750 commonName VAR_005750 VAR_005750 disease phenotype-associated VAR_005750 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005751 commonName VAR_005751 VAR_005751 disease phenotype-associated VAR_005751 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_005751 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005752 commonName VAR_005752 VAR_005752 disease phenotype-associated VAR_005752 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_005752 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005753 commonName VAR_005753 VAR_005753 disease phenotype-associated VAR_005753 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005754 commonName VAR_005754 VAR_005754 disease phenotype-associated VAR_005754 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005755 commonName VAR_005755 VAR_005755 disease phenotype-associated VAR_005755 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005756 commonName VAR_005756 VAR_005756 disease phenotype-associated VAR_005756 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005757 commonName VAR_005757 VAR_005757 disease phenotype-associated VAR_005757 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005758 commonName VAR_005758 VAR_005758 disease phenotype-associated VAR_005758 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005759 commonName VAR_005759 VAR_005759 disease phenotype-associated VAR_005759 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005760 commonName VAR_005760 VAR_005760 disease phenotype-associated VAR_005760 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005761 commonName VAR_005761 VAR_005761 disease phenotype-associated VAR_005761 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_005761 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005762 commonName VAR_005762 VAR_005762 disease phenotype-associated VAR_005762 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_005762 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005763 commonName VAR_005763 VAR_005763 disease phenotype-associated VAR_005763 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005764 commonName VAR_005764 VAR_005764 disease phenotype-associated VAR_005764 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005765 commonName VAR_005765 VAR_005765 disease phenotype-associated VAR_005765 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005766 commonName VAR_005766 VAR_005766 disease phenotype-associated VAR_005766 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005768 commonName VAR_005768 VAR_005768 disease phenotype-associated VAR_005768 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005769 commonName VAR_005769 VAR_005769 disease phenotype-associated VAR_005769 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005770 commonName VAR_005770 VAR_005770 disease phenotype-associated VAR_005770 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005771 commonName VAR_005771 VAR_005771 disease phenotype-associated VAR_005771 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005772 commonName VAR_005772 VAR_005772 disease phenotype-associated VAR_005772 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005773 commonName VAR_005773 VAR_005773 disease phenotype-associated VAR_005773 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005775 commonName VAR_005775 VAR_005775 disease phenotype-associated VAR_005775 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005776 commonName VAR_005776 VAR_005776 disease phenotype-associated VAR_005776 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005777 commonName VAR_005777 VAR_005777 disease phenotype-associated VAR_005777 phenoCommon Familial erythrocytosis type 2 (ECYT2) [MIM:263400] VAR_005777 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_005777 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005778 commonName VAR_005778 VAR_005778 disease phenotype-associated VAR_005778 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005779 commonName VAR_005779 VAR_005779 disease phenotype-associated VAR_005779 phenoCommon Familial erythrocytosis type 2 (ECYT2) [MIM:263400] VAR_005779 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_005780 commonName VAR_005780 VAR_005780 disease not phenotype-associated VAR_005781 commonName VAR_005781 VAR_005781 disease phenotype-associated VAR_005781 phenoCommon Combined deficiency of vitamin K-dependent clotting factors type 1 (VKCFD1) [MIM:277450] VAR_005782 commonName VAR_005782 VAR_005782 disease phenotype-associated VAR_005782 phenoCommon Von Willebrand disease type 3 (VWD3) [MIM:277480] VAR_005783 commonName VAR_005783 VAR_005783 disease phenotype-associated VAR_005783 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_005784 commonName VAR_005784 VAR_005784 disease phenotype-associated VAR_005784 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_005785 commonName VAR_005785 VAR_005785 disease not phenotype-associated VAR_005786 commonName VAR_005786 VAR_005786 disease phenotype-associated VAR_005786 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_005787 commonName VAR_005787 VAR_005787 disease phenotype-associated VAR_005787 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_005788 commonName VAR_005788 VAR_005788 disease not phenotype-associated VAR_005789 commonName VAR_005789 VAR_005789 disease phenotype-associated VAR_005789 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_005790 commonName VAR_005790 VAR_005790 disease not phenotype-associated VAR_005791 commonName VAR_005791 VAR_005791 disease phenotype-associated VAR_005791 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_005792 commonName VAR_005792 VAR_005792 disease phenotype-associated VAR_005792 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_005793 commonName VAR_005793 VAR_005793 disease phenotype-associated VAR_005793 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_005794 commonName VAR_005794 VAR_005794 disease phenotype-associated VAR_005794 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_005795 commonName VAR_005795 VAR_005795 disease phenotype-associated VAR_005795 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_005796 commonName VAR_005796 VAR_005796 disease phenotype-associated VAR_005796 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_005797 commonName VAR_005797 VAR_005797 disease phenotype-associated VAR_005797 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_005798 commonName VAR_005798 VAR_005798 disease phenotype-associated VAR_005798 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_005799 commonName VAR_005799 VAR_005799 disease phenotype-associated VAR_005799 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_005800 commonName VAR_005800 VAR_005800 disease phenotype-associated VAR_005800 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_005801 commonName VAR_005801 VAR_005801 disease phenotype-associated VAR_005801 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_005802 commonName VAR_005802 VAR_005802 disease phenotype-associated VAR_005802 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_005803 commonName VAR_005803 VAR_005803 disease phenotype-associated VAR_005803 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_005804 commonName VAR_005804 VAR_005804 disease not phenotype-associated VAR_005805 commonName VAR_005805 VAR_005805 disease not phenotype-associated VAR_005806 commonName VAR_005806 VAR_005806 disease phenotype-associated VAR_005806 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_005807 commonName VAR_005807 VAR_005807 disease phenotype-associated VAR_005807 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_005808 commonName VAR_005808 VAR_005808 disease phenotype-associated VAR_005808 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_005809 commonName VAR_005809 VAR_005809 disease phenotype-associated VAR_005809 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_005810 commonName VAR_005810 VAR_005810 disease not phenotype-associated VAR_005811 commonName VAR_005811 VAR_005811 disease phenotype-associated VAR_005811 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_005812 commonName VAR_005812 VAR_005812 disease phenotype-associated VAR_005812 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_005813 commonName VAR_005813 VAR_005813 disease phenotype-associated VAR_005813 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_005814 commonName VAR_005814 VAR_005814 disease phenotype-associated VAR_005814 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_005815 commonName VAR_005815 VAR_005815 disease phenotype-associated VAR_005815 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_005816 commonName VAR_005816 VAR_005816 disease phenotype-associated VAR_005816 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_005817 commonName VAR_005817 VAR_005817 disease phenotype-associated VAR_005817 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_005818 commonName VAR_005818 VAR_005818 disease phenotype-associated VAR_005818 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_005819 commonName VAR_005819 VAR_005819 disease phenotype-associated VAR_005819 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_005820 commonName VAR_005820 VAR_005820 disease phenotype-associated VAR_005820 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_005821 commonName VAR_005821 VAR_005821 disease phenotype-associated VAR_005821 phenoCommon Von Willebrand disease type 3 (VWD3) [MIM:277480] VAR_005822 commonName VAR_005822 VAR_005822 disease phenotype-associated VAR_005822 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_005823 commonName VAR_005823 VAR_005823 disease phenotype-associated VAR_005823 phenoCommon Thrombocytopenia type 1 (THC1) [MIM:313900] VAR_005825 commonName VAR_005825 VAR_005825 disease phenotype-associated VAR_005825 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000] VAR_005826 commonName VAR_005826 VAR_005826 disease phenotype-associated VAR_005826 phenoCommon Thrombocytopenia type 1 (THC1) [MIM:313900] VAR_005827 commonName VAR_005827 VAR_005827 disease phenotype-associated VAR_005827 phenoCommon Thrombocytopenia type 1 (THC1) [MIM:313900] VAR_005828 commonName VAR_005828 VAR_005828 disease phenotype-associated VAR_005828 phenoCommon Thrombocytopenia type 1 (THC1) [MIM:313900] VAR_005829 commonName VAR_005829 VAR_005829 disease phenotype-associated VAR_005829 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000] VAR_005830 commonName VAR_005830 VAR_005830 disease phenotype-associated VAR_005830 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000] VAR_005831 commonName VAR_005831 VAR_005831 disease phenotype-associated VAR_005831 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000] VAR_005832 commonName VAR_005832 VAR_005832 disease phenotype-associated VAR_005832 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000] VAR_005833 commonName VAR_005833 VAR_005833 disease phenotype-associated VAR_005833 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000] VAR_005834 commonName VAR_005834 VAR_005834 disease phenotype-associated VAR_005834 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000] VAR_005835 commonName VAR_005835 VAR_005835 disease phenotype-associated VAR_005835 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000] VAR_005836 commonName VAR_005836 VAR_005836 disease phenotype-associated VAR_005836 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000] VAR_005837 commonName VAR_005837 VAR_005837 disease phenotype-associated VAR_005837 phenoCommon Thrombocytopenia type 1 (THC1) [MIM:313900] VAR_005838 commonName VAR_005838 VAR_005838 disease phenotype-associated VAR_005838 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000] VAR_005839 commonName VAR_005839 VAR_005839 disease phenotype-associated VAR_005839 phenoCommon Thrombocytopenia type 1 (THC1) [MIM:313900] VAR_005840 commonName VAR_005840 VAR_005840 disease not phenotype-associated VAR_005841 commonName VAR_005841 VAR_005841 disease not phenotype-associated VAR_005842 commonName VAR_005842 VAR_005842 disease phenotype-associated VAR_005842 phenoCommon Wolfram syndrome type 1 (WFS1) [MIM:222300] VAR_005843 commonName VAR_005843 VAR_005843 disease not phenotype-associated VAR_005844 commonName VAR_005844 VAR_005844 disease phenotype-associated VAR_005844 phenoCommon Wolfram syndrome type 1 (WFS1) [MIM:222300] VAR_005846 commonName VAR_005846 VAR_005846 disease phenotype-associated VAR_005846 phenoCommon Xeroderma pigmentosum complementation group C (XP-C) [MIM:278720] VAR_005851 comment A sporadic cancer VAR_005851 commonName VAR_005851 VAR_005852 comment Sporadic cancers VAR_005852 commonName VAR_005852 VAR_005853 comment A sporadic cancer VAR_005853 commonName VAR_005853 VAR_005854 comment Sporadic cancers VAR_005854 commonName VAR_005854 VAR_005855 comment A sporadic cancer VAR_005855 commonName VAR_005855 VAR_005856 commonName VAR_005856 VAR_005856 disease not phenotype-associated VAR_005857 comment A sporadic cancer VAR_005857 commonName VAR_005857 VAR_005858 comment Sporadic cancers VAR_005858 commonName VAR_005858 VAR_005859 comment Sporadic cancers VAR_005859 commonName VAR_005859 VAR_005860 comment Sporadic cancers VAR_005860 commonName VAR_005860 VAR_005861 comment A familial cancer not matching LFS VAR_005861 commonName VAR_005861 VAR_005862 comment Sporadic cancers VAR_005862 commonName VAR_005862 VAR_005863 comment Sporadic cancers VAR_005863 commonName VAR_005863 VAR_005864 comment Sporadic cancers VAR_005864 commonName VAR_005864 VAR_005865 comment Sporadic cancers VAR_005865 commonName VAR_005865 VAR_005866 comment Sporadic cancers VAR_005866 commonName VAR_005866 VAR_005867 comment Sporadic cancers VAR_005867 commonName VAR_005867 VAR_005868 comment Sporadic cancers VAR_005868 commonName VAR_005868 VAR_005869 comment Sporadic cancers VAR_005869 commonName VAR_005869 VAR_005870 comment Sporadic cancers VAR_005870 commonName VAR_005870 VAR_005871 comment Sporadic cancers VAR_005871 commonName VAR_005871 VAR_005872 comment Sporadic cancers VAR_005872 commonName VAR_005872 VAR_005873 comment Sporadic cancers VAR_005873 commonName VAR_005873 VAR_005874 comment Sporadic cancers VAR_005874 commonName VAR_005874 VAR_005875 commonName VAR_005875 VAR_005875 disease phenotype-associated VAR_005875 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_005876 comment Sporadic cancers VAR_005876 commonName VAR_005876 VAR_005877 comment Sporadic cancers VAR_005877 commonName VAR_005877 VAR_005878 comment Sporadic cancers VAR_005878 commonName VAR_005878 VAR_005879 comment A sporadic cancer VAR_005879 commonName VAR_005879 VAR_005880 comment Sporadic cancers VAR_005880 commonName VAR_005880 VAR_005881 commonName VAR_005881 VAR_005881 disease phenotype-associated VAR_005881 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_005882 comment Sporadic cancers VAR_005882 commonName VAR_005882 VAR_005884 comment Sporadic cancers VAR_005884 commonName VAR_005884 VAR_005885 comment Sporadic cancers VAR_005885 commonName VAR_005885 VAR_005886 commonName VAR_005886 VAR_005886 disease phenotype-associated VAR_005886 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_005887 comment Sporadic cancers VAR_005887 commonName VAR_005887 VAR_005888 comment Sporadic cancers VAR_005888 commonName VAR_005888 VAR_005889 comment Sporadic cancers VAR_005889 commonName VAR_005889 VAR_005890 comment Sporadic cancers VAR_005890 commonName VAR_005890 VAR_005891 comment Sporadic cancers VAR_005891 commonName VAR_005891 VAR_005892 comment Sporadic cancers VAR_005892 commonName VAR_005892 VAR_005893 comment Sporadic cancers VAR_005893 commonName VAR_005893 VAR_005894 comment Sporadic cancers VAR_005894 commonName VAR_005894 VAR_005895 commonName VAR_005895 VAR_005895 disease phenotype-associated VAR_005895 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_005896 commonName VAR_005896 VAR_005896 disease phenotype-associated VAR_005896 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_005897 commonName VAR_005897 VAR_005897 disease phenotype-associated VAR_005897 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_005898 comment Sporadic cancers VAR_005898 commonName VAR_005898 VAR_005899 comment Sporadic cancers VAR_005899 commonName VAR_005899 VAR_005900 comment A brain tumor with no family history VAR_005900 commonName VAR_005900 VAR_005901 comment Sporadic cancers VAR_005901 commonName VAR_005901 VAR_005902 comment Sporadic cancers VAR_005902 commonName VAR_005902 VAR_005903 comment Sporadic cancers VAR_005903 commonName VAR_005903 VAR_005904 comment Sporadic cancers VAR_005904 commonName VAR_005904 VAR_005905 comment Sporadic cancers VAR_005905 commonName VAR_005905 VAR_005906 commonName VAR_005906 VAR_005906 disease phenotype-associated VAR_005906 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_005907 commonName VAR_005907 VAR_005907 disease phenotype-associated VAR_005907 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_005908 comment Sporadic cancers VAR_005908 commonName VAR_005908 VAR_005909 comment Sporadic cancers VAR_005909 commonName VAR_005909 VAR_005910 comment Sporadic cancers VAR_005910 commonName VAR_005910 VAR_005911 comment Sporadic cancers VAR_005911 commonName VAR_005911 VAR_005912 comment Sporadic cancers VAR_005912 commonName VAR_005912 VAR_005913 comment Sporadic cancers VAR_005913 commonName VAR_005913 VAR_005914 comment Sporadic cancers VAR_005914 commonName VAR_005914 VAR_005915 comment Sporadic cancers VAR_005915 commonName VAR_005915 VAR_005916 comment Sporadic cancers VAR_005916 commonName VAR_005916 VAR_005917 comment Sporadic cancers VAR_005917 commonName VAR_005917 VAR_005918 comment Sporadic cancers VAR_005918 commonName VAR_005918 VAR_005919 comment Sporadic cancers VAR_005919 commonName VAR_005919 VAR_005920 comment Sporadic cancers VAR_005920 commonName VAR_005920 VAR_005921 comment Sporadic cancers VAR_005921 commonName VAR_005921 VAR_005922 comment Sporadic cancers VAR_005922 commonName VAR_005922 VAR_005923 comment Sporadic cancers VAR_005923 commonName VAR_005923 VAR_005924 comment Sporadic cancers VAR_005924 commonName VAR_005924 VAR_005925 comment Sporadic cancers VAR_005925 commonName VAR_005925 VAR_005926 commonName VAR_005926 VAR_005926 disease phenotype-associated VAR_005926 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_005927 comment Sporadic cancers VAR_005927 commonName VAR_005927 VAR_005928 comment Sporadic cancers VAR_005928 commonName VAR_005928 VAR_005929 commonName VAR_005929 VAR_005929 disease phenotype-associated VAR_005929 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_005930 commonName VAR_005930 VAR_005930 disease phenotype-associated VAR_005930 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_005931 comment Sporadic cancers VAR_005931 commonName VAR_005931 VAR_005932 commonName VAR_005932 VAR_005932 disease phenotype-associated VAR_005932 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_005933 comment Sporadic cancers VAR_005933 commonName VAR_005933 VAR_005934 comment Sporadic cancers VAR_005934 commonName VAR_005934 VAR_005935 comment Sporadic cancers VAR_005935 commonName VAR_005935 VAR_005937 comment A familial cancer not matching LFS VAR_005937 commonName VAR_005937 VAR_005938 comment Sporadic cancers VAR_005938 commonName VAR_005938 VAR_005939 comment Sporadic cancers VAR_005939 commonName VAR_005939 VAR_005940 comment A sporadic cancer VAR_005940 commonName VAR_005940 VAR_005941 comment Sporadic cancers VAR_005941 commonName VAR_005941 VAR_005942 comment Sporadic cancers VAR_005942 commonName VAR_005942 VAR_005943 comment Sporadic cancers VAR_005943 commonName VAR_005943 VAR_005944 comment Sporadic cancers VAR_005944 commonName VAR_005944 VAR_005945 comment Sporadic cancers VAR_005945 commonName VAR_005945 VAR_005946 comment Sporadic cancers VAR_005946 commonName VAR_005946 VAR_005947 comment Sporadic cancers VAR_005947 commonName VAR_005947 VAR_005948 commonName VAR_005948 VAR_005948 disease phenotype-associated VAR_005948 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_005949 comment Sporadic cancers VAR_005949 commonName VAR_005949 VAR_005950 comment Sporadic cancers VAR_005950 commonName VAR_005950 VAR_005951 comment Sporadic cancers VAR_005951 commonName VAR_005951 VAR_005952 comment Sporadic cancers VAR_005952 commonName VAR_005952 VAR_005953 comment Sporadic cancers VAR_005953 commonName VAR_005953 VAR_005954 comment Sporadic cancers VAR_005954 commonName VAR_005954 VAR_005955 commonName VAR_005955 VAR_005955 disease phenotype-associated VAR_005955 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_005956 comment Sporadic cancers VAR_005956 commonName VAR_005956 VAR_005957 commonName VAR_005957 VAR_005957 disease phenotype-associated VAR_005957 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_005958 comment Sporadic cancers VAR_005958 commonName VAR_005958 VAR_005959 comment A brain tumor with no family history VAR_005959 commonName VAR_005959 VAR_005960 comment Sporadic cancers VAR_005960 commonName VAR_005960 VAR_005961 comment Sporadic cancers VAR_005961 commonName VAR_005961 VAR_005962 comment Sporadic cancers VAR_005962 commonName VAR_005962 VAR_005963 commonName VAR_005963 VAR_005963 disease phenotype-associated VAR_005963 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_005964 comment Sporadic cancers VAR_005964 commonName VAR_005964 VAR_005965 commonName VAR_005965 VAR_005965 disease phenotype-associated VAR_005965 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_005966 comment Sporadic cancers VAR_005966 commonName VAR_005966 VAR_005967 comment A familial cancer not matching LFS VAR_005967 commonName VAR_005967 VAR_005968 comment Sporadic cancers VAR_005968 commonName VAR_005968 VAR_005969 commonName VAR_005969 VAR_005969 disease phenotype-associated VAR_005969 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_005970 comment Sporadic cancers VAR_005970 commonName VAR_005970 VAR_005971 comment Sporadic cancers VAR_005971 commonName VAR_005971 VAR_005972 commonName VAR_005972 VAR_005972 disease phenotype-associated VAR_005972 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_005973 commonName VAR_005973 VAR_005973 disease phenotype-associated VAR_005973 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_005974 commonName VAR_005974 VAR_005974 disease phenotype-associated VAR_005974 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_005975 commonName VAR_005975 VAR_005975 disease phenotype-associated VAR_005975 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_005976 comment Sporadic cancers VAR_005976 commonName VAR_005976 VAR_005977 comment Sporadic cancers VAR_005977 commonName VAR_005977 VAR_005978 commonName VAR_005978 VAR_005978 disease phenotype-associated VAR_005978 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_005980 comment Sporadic cancers VAR_005980 commonName VAR_005980 VAR_005981 comment Sporadic cancers VAR_005981 commonName VAR_005981 VAR_005982 comment Sporadic cancers VAR_005982 commonName VAR_005982 VAR_005983 commonName VAR_005983 VAR_005983 disease phenotype-associated VAR_005983 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_005984 commonName VAR_005984 VAR_005984 disease phenotype-associated VAR_005984 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_005985 comment Sporadic cancers VAR_005985 commonName VAR_005985 VAR_005986 comment Sporadic cancers VAR_005986 commonName VAR_005986 VAR_005987 comment Sporadic cancers VAR_005987 commonName VAR_005987 VAR_005988 commonName VAR_005988 VAR_005988 disease phenotype-associated VAR_005988 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_005989 comment Sporadic cancers VAR_005989 commonName VAR_005989 VAR_005990 comment Sporadic cancers VAR_005990 commonName VAR_005990 VAR_005991 commonName VAR_005991 VAR_005991 disease phenotype-associated VAR_005991 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_005992 commonName VAR_005992 VAR_005992 disease phenotype-associated VAR_005992 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_005993 commonName VAR_005993 VAR_005993 disease phenotype-associated VAR_005993 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_005994 commonName VAR_005994 VAR_005994 disease phenotype-associated VAR_005994 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_005995 commonName VAR_005995 VAR_005995 disease phenotype-associated VAR_005995 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_005997 comment Sporadic cancers VAR_005997 commonName VAR_005997 VAR_005998 commonName VAR_005998 VAR_005998 disease phenotype-associated VAR_005998 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_005999 comment Sporadic cancers VAR_005999 commonName VAR_005999 VAR_006000 comment Sporadic cancers VAR_006000 commonName VAR_006000 VAR_006001 comment Sporadic cancers VAR_006001 commonName VAR_006001 VAR_006002 comment Sporadic cancers VAR_006002 commonName VAR_006002 VAR_006003 commonName VAR_006003 VAR_006003 disease phenotype-associated VAR_006003 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_006004 commonName VAR_006004 VAR_006004 disease phenotype-associated VAR_006004 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_006005 commonName VAR_006005 VAR_006005 disease phenotype-associated VAR_006005 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_006006 comment Sporadic cancers VAR_006006 commonName VAR_006006 VAR_006007 comment A familial cancer not matching LFS VAR_006007 commonName VAR_006007 VAR_006008 comment Sporadic cancers VAR_006008 commonName VAR_006008 VAR_006009 comment Sporadic cancers VAR_006009 commonName VAR_006009 VAR_006010 comment Sporadic cancers VAR_006010 commonName VAR_006010 VAR_006011 comment Sporadic cancers VAR_006011 commonName VAR_006011 VAR_006012 comment A brain tumor with no family history VAR_006012 commonName VAR_006012 VAR_006013 comment Sporadic cancers VAR_006013 commonName VAR_006013 VAR_006014 comment A familial cancer not matching LFS VAR_006014 commonName VAR_006014 VAR_006015 comment Sporadic cancers VAR_006015 commonName VAR_006015 VAR_006016 commonName VAR_006016 VAR_006016 disease phenotype-associated VAR_006016 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_006017 commonName VAR_006017 VAR_006017 disease phenotype-associated VAR_006017 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_006018 comment Sporadic cancers VAR_006018 commonName VAR_006018 VAR_006019 comment A brain tumor with no family history VAR_006019 commonName VAR_006019 VAR_006020 comment Sporadic cancers VAR_006020 commonName VAR_006020 VAR_006021 comment Sporadic cancers VAR_006021 commonName VAR_006021 VAR_006022 comment Sporadic cancers VAR_006022 commonName VAR_006022 VAR_006023 comment Sporadic cancers VAR_006023 commonName VAR_006023 VAR_006024 commonName VAR_006024 VAR_006024 disease phenotype-associated VAR_006024 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_006025 comment Sporadic cancers VAR_006025 commonName VAR_006025 VAR_006026 commonName VAR_006026 VAR_006026 disease phenotype-associated VAR_006026 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_006027 comment Sporadic cancers VAR_006027 commonName VAR_006027 VAR_006028 comment Sporadic cancers VAR_006028 commonName VAR_006028 VAR_006029 comment Sporadic cancers VAR_006029 commonName VAR_006029 VAR_006030 comment Sporadic cancers VAR_006030 commonName VAR_006030 VAR_006031 comment A sporadic cancer VAR_006031 commonName VAR_006031 VAR_006032 comment A sporadic cancer VAR_006032 commonName VAR_006032 VAR_006033 comment Sporadic cancers VAR_006033 commonName VAR_006033 VAR_006034 comment Sporadic cancers VAR_006034 commonName VAR_006034 VAR_006035 comment A sporadic cancer VAR_006035 commonName VAR_006035 VAR_006036 comment Sporadic cancers VAR_006036 commonName VAR_006036 VAR_006037 comment Sporadic cancers VAR_006037 commonName VAR_006037 VAR_006038 commonName VAR_006038 VAR_006038 disease phenotype-associated VAR_006038 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_006039 commonName VAR_006039 VAR_006039 disease phenotype-associated VAR_006039 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_006040 comment Sporadic cancers VAR_006040 commonName VAR_006040 VAR_006041 commonName VAR_006041 VAR_006041 disease phenotype-associated VAR_006041 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_006042 commonName VAR_006042 VAR_006042 disease not phenotype-associated VAR_006043 commonName VAR_006043 VAR_006043 disease not phenotype-associated VAR_006044 commonName VAR_006044 VAR_006044 disease not phenotype-associated VAR_006047 commonName VAR_006047 VAR_006047 disease phenotype-associated VAR_006047 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200] VAR_006048 commonName VAR_006048 VAR_006048 disease not phenotype-associated VAR_006049 commonName VAR_006049 VAR_006049 disease phenotype-associated VAR_006049 phenoCommon Retinitis pigmentosa type 43 (RP43) [MIM:613810] VAR_006050 commonName VAR_006050 VAR_006050 disease phenotype-associated VAR_006050 phenoCommon Retinitis pigmentosa type 40 (RP40) [MIM:613801] VAR_006051 commonName VAR_006051 VAR_006051 disease phenotype-associated VAR_006051 phenoCommon Retinitis pigmentosa type 40 (RP40) [MIM:613801] VAR_006052 commonName VAR_006052 VAR_006052 disease phenotype-associated VAR_006052 phenoCommon Retinitis pigmentosa type 40 (RP40) [MIM:613801] VAR_006054 commonName VAR_006054 VAR_006054 disease not phenotype-associated VAR_006055 commonName VAR_006055 VAR_006055 disease not phenotype-associated VAR_006056 commonName VAR_006056 VAR_006056 disease not phenotype-associated VAR_006057 commonName VAR_006057 VAR_006057 disease not phenotype-associated VAR_006058 commonName VAR_006058 VAR_006058 disease not phenotype-associated VAR_006059 commonName VAR_006059 VAR_006059 disease not phenotype-associated VAR_006060 commonName VAR_006060 VAR_006060 disease phenotype-associated VAR_006060 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] VAR_006061 commonName VAR_006061 VAR_006061 disease not phenotype-associated VAR_006062 commonName VAR_006062 VAR_006062 disease phenotype-associated VAR_006062 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] VAR_006063 commonName VAR_006063 VAR_006063 disease phenotype-associated VAR_006063 phenoCommon Glycogen storage disease type 7 (GSD7) [MIM:232800] VAR_006064 commonName VAR_006064 VAR_006064 disease phenotype-associated VAR_006064 phenoCommon Glycogen storage disease type 7 (GSD7) [MIM:232800] VAR_006065 commonName VAR_006065 VAR_006065 disease phenotype-associated VAR_006065 phenoCommon Glycogen storage disease type 7 (GSD7) [MIM:232800] VAR_006066 commonName VAR_006066 VAR_006066 disease phenotype-associated VAR_006066 phenoCommon Glycogen storage disease type 7 (GSD7) [MIM:232800] VAR_006070 commonName VAR_006070 VAR_006070 disease not phenotype-associated VAR_006071 commonName VAR_006071 VAR_006071 disease not phenotype-associated VAR_006072 commonName VAR_006072 VAR_006072 disease phenotype-associated VAR_006072 phenoCommon Fructosuria (FRUCT) [MIM:229800] VAR_006073 commonName VAR_006073 VAR_006073 disease phenotype-associated VAR_006073 phenoCommon Fructosuria (FRUCT) [MIM:229800] VAR_006074 commonName VAR_006074 VAR_006074 disease not phenotype-associated VAR_006075 commonName VAR_006075 VAR_006075 disease not phenotype-associated VAR_006076 commonName VAR_006076 VAR_006076 disease phenotype-associated VAR_006076 phenoCommon Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] VAR_006077 commonName VAR_006077 VAR_006077 disease phenotype-associated VAR_006077 phenoCommon Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] VAR_006078 commonName VAR_006078 VAR_006078 disease phenotype-associated VAR_006078 phenoCommon Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] VAR_006080 commonName VAR_006080 VAR_006080 disease phenotype-associated VAR_006080 phenoCommon Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] VAR_006081 commonName VAR_006081 VAR_006081 disease phenotype-associated VAR_006081 phenoCommon Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] VAR_006082 commonName VAR_006082 VAR_006082 disease phenotype-associated VAR_006082 phenoCommon Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] VAR_006083 commonName VAR_006083 VAR_006084 commonName VAR_006084 VAR_006084 disease phenotype-associated VAR_006084 phenoCommon Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] VAR_006085 commonName VAR_006085 VAR_006085 disease phenotype-associated VAR_006085 phenoCommon Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] VAR_006086 commonName VAR_006086 VAR_006086 disease phenotype-associated VAR_006086 phenoCommon Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] VAR_006087 commonName VAR_006087 VAR_006087 disease not phenotype-associated VAR_006088 commonName VAR_006088 VAR_006088 disease phenotype-associated VAR_006088 phenoCommon Glycogen storage disease type 10 (GSD10) [MIM:261670] VAR_006089 commonName VAR_006089 VAR_006089 disease phenotype-associated VAR_006089 phenoCommon Glycogen storage disease type 10 (GSD10) [MIM:261670] VAR_006090 commonName VAR_006090 VAR_006090 disease not phenotype-associated VAR_006091 commonName VAR_006091 VAR_006091 disease not phenotype-associated VAR_006093 commonName VAR_006093 VAR_006093 disease phenotype-associated VAR_006093 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_006094 commonName VAR_006094 VAR_006094 disease phenotype-associated VAR_006094 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_006095 commonName VAR_006095 VAR_006095 disease phenotype-associated VAR_006095 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_006096 commonName VAR_006096 VAR_006096 disease phenotype-associated VAR_006096 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_006097 commonName VAR_006097 VAR_006097 disease phenotype-associated VAR_006097 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_006098 commonName VAR_006098 VAR_006098 disease phenotype-associated VAR_006098 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_006099 commonName VAR_006099 VAR_006099 disease phenotype-associated VAR_006099 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_006100 commonName VAR_006100 VAR_006100 disease phenotype-associated VAR_006100 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_006101 commonName VAR_006101 VAR_006101 disease phenotype-associated VAR_006101 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_006102 commonName VAR_006102 VAR_006102 disease phenotype-associated VAR_006102 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_006103 commonName VAR_006103 VAR_006103 disease phenotype-associated VAR_006103 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_006104 commonName VAR_006104 VAR_006104 disease phenotype-associated VAR_006104 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_006105 commonName VAR_006105 VAR_006105 disease phenotype-associated VAR_006105 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_006106 commonName VAR_006106 VAR_006106 disease phenotype-associated VAR_006106 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_006107 commonName VAR_006107 VAR_006107 disease phenotype-associated VAR_006107 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_006108 commonName VAR_006108 VAR_006108 disease phenotype-associated VAR_006108 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_006109 commonName VAR_006109 VAR_006109 disease phenotype-associated VAR_006109 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_006110 commonName VAR_006110 VAR_006110 disease phenotype-associated VAR_006110 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_006111 commonName VAR_006111 VAR_006111 disease phenotype-associated VAR_006111 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_006112 commonName VAR_006112 VAR_006112 disease phenotype-associated VAR_006112 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_006113 commonName VAR_006113 VAR_006113 disease phenotype-associated VAR_006113 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_006114 commonName VAR_006114 VAR_006114 disease phenotype-associated VAR_006114 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_006115 commonName VAR_006115 VAR_006115 disease phenotype-associated VAR_006115 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_006116 commonName VAR_006116 VAR_006116 disease phenotype-associated VAR_006116 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_006117 commonName VAR_006117 VAR_006117 disease phenotype-associated VAR_006117 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_006118 commonName VAR_006118 VAR_006118 disease phenotype-associated VAR_006118 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_006119 commonName VAR_006119 VAR_006119 disease phenotype-associated VAR_006119 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_006121 commonName VAR_006121 VAR_006121 disease not phenotype-associated VAR_006123 commonName VAR_006123 VAR_006123 disease not phenotype-associated VAR_006124 commonName VAR_006124 VAR_006124 disease phenotype-associated VAR_006124 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_006125 commonName VAR_006125 VAR_006125 disease phenotype-associated VAR_006125 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_006126 commonName VAR_006126 VAR_006126 disease phenotype-associated VAR_006126 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_006127 commonName VAR_006127 VAR_006127 disease phenotype-associated VAR_006127 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_006128 commonName VAR_006128 VAR_006128 disease not phenotype-associated VAR_006129 commonName VAR_006129 VAR_006129 disease phenotype-associated VAR_006129 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_006131 commonName VAR_006131 VAR_006131 disease not phenotype-associated VAR_006132 commonName VAR_006132 VAR_006132 disease phenotype-associated VAR_006132 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_006133 commonName VAR_006133 VAR_006133 disease phenotype-associated VAR_006133 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_006134 commonName VAR_006134 VAR_006134 disease phenotype-associated VAR_006134 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_006135 commonName VAR_006135 VAR_006135 disease phenotype-associated VAR_006135 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_006136 commonName VAR_006136 VAR_006136 disease phenotype-associated VAR_006136 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_006137 commonName VAR_006137 VAR_006137 disease phenotype-associated VAR_006137 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_006138 commonName VAR_006138 VAR_006138 disease phenotype-associated VAR_006138 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_006139 commonName VAR_006139 VAR_006139 disease not phenotype-associated VAR_006140 commonName VAR_006140 VAR_006140 disease phenotype-associated VAR_006140 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_006141 commonName VAR_006141 VAR_006141 disease phenotype-associated VAR_006141 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_006142 commonName VAR_006142 VAR_006142 disease not phenotype-associated VAR_006143 commonName VAR_006143 VAR_006143 disease phenotype-associated VAR_006143 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_006144 commonName VAR_006144 VAR_006144 disease phenotype-associated VAR_006144 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_006145 commonName VAR_006145 VAR_006145 disease phenotype-associated VAR_006145 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_006146 commonName VAR_006146 VAR_006146 disease phenotype-associated VAR_006146 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_006147 commonName VAR_006147 VAR_006147 disease phenotype-associated VAR_006147 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_006148 commonName VAR_006148 VAR_006148 disease phenotype-associated VAR_006148 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_006149 commonName VAR_006149 VAR_006149 disease phenotype-associated VAR_006149 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_006150 commonName VAR_006150 VAR_006150 disease phenotype-associated VAR_006150 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_006151 commonName VAR_006151 VAR_006151 disease phenotype-associated VAR_006151 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_006152 commonName VAR_006152 VAR_006152 disease phenotype-associated VAR_006152 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_006153 commonName VAR_006153 VAR_006153 disease phenotype-associated VAR_006153 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_006154 commonName VAR_006154 VAR_006154 disease phenotype-associated VAR_006154 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_006155 commonName VAR_006155 VAR_006155 disease phenotype-associated VAR_006155 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_006156 commonName VAR_006156 VAR_006156 disease phenotype-associated VAR_006156 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_006157 commonName VAR_006157 VAR_006157 disease phenotype-associated VAR_006157 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_006158 commonName VAR_006158 VAR_006158 disease phenotype-associated VAR_006158 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_006159 commonName VAR_006159 VAR_006159 disease phenotype-associated VAR_006159 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_006160 commonName VAR_006160 VAR_006160 disease phenotype-associated VAR_006160 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_006161 commonName VAR_006161 VAR_006161 disease not phenotype-associated VAR_006162 commonName VAR_006162 VAR_006162 disease phenotype-associated VAR_006162 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_006163 commonName VAR_006163 VAR_006163 disease phenotype-associated VAR_006163 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_006164 commonName VAR_006164 VAR_006164 disease phenotype-associated VAR_006164 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_006165 commonName VAR_006165 VAR_006165 disease phenotype-associated VAR_006165 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_006166 commonName VAR_006166 VAR_006166 disease phenotype-associated VAR_006166 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_006167 commonName VAR_006167 VAR_006167 disease phenotype-associated VAR_006167 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_006168 commonName VAR_006168 VAR_006168 disease phenotype-associated VAR_006168 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_006169 commonName VAR_006169 VAR_006169 disease phenotype-associated VAR_006169 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_006170 commonName VAR_006170 VAR_006170 disease phenotype-associated VAR_006170 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_006171 commonName VAR_006171 VAR_006171 disease not phenotype-associated VAR_006173 commonName VAR_006173 VAR_006173 disease not phenotype-associated VAR_006175 commonName VAR_006175 VAR_006175 disease not phenotype-associated VAR_006176 commonName VAR_006176 VAR_006176 disease not phenotype-associated VAR_006177 commonName VAR_006177 VAR_006177 disease phenotype-associated VAR_006177 phenoCommon Glycogen storage disease type 9A (GSD9A) [MIM:306000] VAR_006178 commonName VAR_006178 VAR_006178 disease phenotype-associated VAR_006178 phenoCommon Glycogen storage disease type 9A (GSD9A) [MIM:306000] VAR_006180 commonName VAR_006180 VAR_006180 disease phenotype-associated VAR_006180 phenoCommon Glycogen storage disease type 9A (GSD9A) [MIM:306000] VAR_006181 commonName VAR_006181 VAR_006181 disease phenotype-associated VAR_006181 phenoCommon Glycogen storage disease type 9A (GSD9A) [MIM:306000] VAR_006183 commonName VAR_006183 VAR_006183 disease phenotype-associated VAR_006183 phenoCommon Glycogen storage disease type 9A (GSD9A) [MIM:306000] VAR_006185 commonName VAR_006185 VAR_006185 disease phenotype-associated VAR_006185 phenoCommon Glycogen storage disease type 9A (GSD9A) [MIM:306000] VAR_006186 commonName VAR_006186 VAR_006186 disease phenotype-associated VAR_006186 phenoCommon Glycogen storage disease type 9A (GSD9A) [MIM:306000] VAR_006187 commonName VAR_006187 VAR_006187 disease not phenotype-associated VAR_006188 commonName VAR_006188 VAR_006188 disease not phenotype-associated VAR_006189 commonName VAR_006189 VAR_006189 disease phenotype-associated VAR_006189 phenoCommon Coffin-Lowry syndrome (CLS) [MIM:303600] VAR_006190 commonName VAR_006190 VAR_006190 disease phenotype-associated VAR_006190 phenoCommon Coffin-Lowry syndrome (CLS) [MIM:303600] VAR_006191 commonName VAR_006191 VAR_006191 disease phenotype-associated VAR_006191 phenoCommon Coffin-Lowry syndrome (CLS) [MIM:303600] VAR_006192 commonName VAR_006192 VAR_006192 disease phenotype-associated VAR_006192 phenoCommon Coffin-Lowry syndrome (CLS) [MIM:303600] VAR_006193 commonName VAR_006193 VAR_006193 disease phenotype-associated VAR_006193 phenoCommon Coffin-Lowry syndrome (CLS) [MIM:303600] VAR_006194 commonName VAR_006194 VAR_006194 disease phenotype-associated VAR_006194 phenoCommon Coffin-Lowry syndrome (CLS) [MIM:303600] VAR_006195 commonName VAR_006195 VAR_006195 disease phenotype-associated VAR_006195 phenoCommon Coffin-Lowry syndrome (CLS) [MIM:303600] VAR_006196 commonName VAR_006196 VAR_006196 disease phenotype-associated VAR_006196 phenoCommon Coffin-Lowry syndrome (CLS) [MIM:303600] VAR_006200 commonName VAR_006200 VAR_006200 disease phenotype-associated VAR_006200 phenoCommon Cutaneous malignant melanoma type 3 (CMM3) [MIM:609048] VAR_006201 commonName VAR_006201 VAR_006201 disease phenotype-associated VAR_006201 phenoCommon Cutaneous malignant melanoma type 3 (CMM3) [MIM:609048] VAR_006202 commonName VAR_006202 VAR_006202 disease phenotype-associated VAR_006202 phenoCommon Peutz-Jeghers syndrome (PJS) [MIM:175200] VAR_006204 commonName VAR_006204 VAR_006204 disease phenotype-associated VAR_006204 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_006205 commonName VAR_006205 VAR_006205 disease phenotype-associated VAR_006205 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_006206 commonName VAR_006206 VAR_006206 disease phenotype-associated VAR_006206 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_006207 commonName VAR_006207 VAR_006207 disease phenotype-associated VAR_006207 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_006208 commonName VAR_006208 VAR_006208 disease phenotype-associated VAR_006208 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_006210 commonName VAR_006210 VAR_006210 disease phenotype-associated VAR_006210 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_006211 commonName VAR_006211 VAR_006211 disease phenotype-associated VAR_006211 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_006212 commonName VAR_006212 VAR_006212 disease phenotype-associated VAR_006212 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_006213 commonName VAR_006213 VAR_006213 disease phenotype-associated VAR_006213 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_006214 commonName VAR_006214 VAR_006214 disease phenotype-associated VAR_006214 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_006215 commonName VAR_006215 VAR_006215 disease phenotype-associated VAR_006215 phenoCommon Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411] VAR_006216 commonName VAR_006216 VAR_006216 disease phenotype-associated VAR_006216 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006217 commonName VAR_006217 VAR_006217 disease phenotype-associated VAR_006217 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006218 commonName VAR_006218 VAR_006218 disease phenotype-associated VAR_006218 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006219 commonName VAR_006219 VAR_006219 disease phenotype-associated VAR_006219 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006220 commonName VAR_006220 VAR_006220 disease phenotype-associated VAR_006220 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006221 commonName VAR_006221 VAR_006221 disease phenotype-associated VAR_006221 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006222 commonName VAR_006222 VAR_006222 disease phenotype-associated VAR_006222 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006223 commonName VAR_006223 VAR_006223 disease phenotype-associated VAR_006223 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006225 commonName VAR_006225 VAR_006225 disease phenotype-associated VAR_006225 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006227 commonName VAR_006227 VAR_006227 disease phenotype-associated VAR_006227 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006228 commonName VAR_006228 VAR_006228 disease phenotype-associated VAR_006228 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006230 commonName VAR_006230 VAR_006230 disease phenotype-associated VAR_006230 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006231 commonName VAR_006231 VAR_006231 disease phenotype-associated VAR_006231 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006232 commonName VAR_006232 VAR_006232 disease phenotype-associated VAR_006232 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006233 commonName VAR_006233 VAR_006233 disease phenotype-associated VAR_006233 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006234 commonName VAR_006234 VAR_006234 disease phenotype-associated VAR_006234 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006235 commonName VAR_006235 VAR_006235 disease phenotype-associated VAR_006235 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006236 commonName VAR_006236 VAR_006236 disease phenotype-associated VAR_006236 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006237 commonName VAR_006237 VAR_006237 disease phenotype-associated VAR_006237 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006238 commonName VAR_006238 VAR_006238 disease phenotype-associated VAR_006238 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006239 commonName VAR_006239 VAR_006239 disease phenotype-associated VAR_006239 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006240 commonName VAR_006240 VAR_006240 disease phenotype-associated VAR_006240 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006241 commonName VAR_006241 VAR_006241 disease phenotype-associated VAR_006241 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006242 commonName VAR_006242 VAR_006242 disease phenotype-associated VAR_006242 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006243 commonName VAR_006243 VAR_006243 disease phenotype-associated VAR_006243 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006244 commonName VAR_006244 VAR_006244 disease phenotype-associated VAR_006244 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006245 commonName VAR_006245 VAR_006245 disease phenotype-associated VAR_006245 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006246 commonName VAR_006246 VAR_006246 disease phenotype-associated VAR_006246 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006247 commonName VAR_006247 VAR_006247 disease phenotype-associated VAR_006247 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006248 commonName VAR_006248 VAR_006248 disease phenotype-associated VAR_006248 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006249 commonName VAR_006249 VAR_006249 disease phenotype-associated VAR_006249 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006251 commonName VAR_006251 VAR_006251 disease phenotype-associated VAR_006251 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006252 commonName VAR_006252 VAR_006252 disease phenotype-associated VAR_006252 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006253 commonName VAR_006253 VAR_006253 disease phenotype-associated VAR_006253 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006254 commonName VAR_006254 VAR_006254 disease phenotype-associated VAR_006254 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006255 commonName VAR_006255 VAR_006255 disease phenotype-associated VAR_006255 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006256 commonName VAR_006256 VAR_006256 disease phenotype-associated VAR_006256 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_006282 commonName VAR_006282 VAR_006282 disease not phenotype-associated VAR_006283 commonName VAR_006283 VAR_006283 disease not phenotype-associated VAR_006284 commonName VAR_006284 VAR_006284 disease phenotype-associated VAR_006284 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802] VAR_006285 commonName VAR_006285 VAR_006285 disease not phenotype-associated VAR_006295 commonName VAR_006295 VAR_006295 disease phenotype-associated VAR_006295 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_006296 commonName VAR_006296 VAR_006296 disease phenotype-associated VAR_006296 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_006297 commonName VAR_006297 VAR_006298 commonName VAR_006298 VAR_006298 disease phenotype-associated VAR_006298 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_006299 commonName VAR_006299 VAR_006299 disease phenotype-associated VAR_006299 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_006300 commonName VAR_006300 VAR_006300 disease phenotype-associated VAR_006300 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_006301 commonName VAR_006301 VAR_006301 disease phenotype-associated VAR_006301 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_006302 commonName VAR_006302 VAR_006302 disease phenotype-associated VAR_006302 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_006303 commonName VAR_006303 VAR_006303 disease phenotype-associated VAR_006303 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_006304 commonName VAR_006304 VAR_006304 disease phenotype-associated VAR_006304 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_006305 commonName VAR_006305 VAR_006305 disease phenotype-associated VAR_006305 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_006306 commonName VAR_006306 VAR_006306 disease phenotype-associated VAR_006306 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_006306 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240] VAR_006306 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400] VAR_006307 commonName VAR_006307 VAR_006307 disease phenotype-associated VAR_006307 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_006308 commonName VAR_006308 VAR_006308 disease phenotype-associated VAR_006308 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240] VAR_006308 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400] VAR_006309 commonName VAR_006309 VAR_006309 disease phenotype-associated VAR_006309 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400] VAR_006310 commonName VAR_006310 VAR_006310 disease phenotype-associated VAR_006310 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400] VAR_006311 commonName VAR_006311 VAR_006311 disease phenotype-associated VAR_006311 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_006311 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240] VAR_006311 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400] VAR_006312 commonName VAR_006312 VAR_006312 disease phenotype-associated VAR_006312 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240] VAR_006312 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400] VAR_006313 commonName VAR_006313 VAR_006313 disease phenotype-associated VAR_006313 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_006313 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240] VAR_006313 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400] VAR_006314 commonName VAR_006314 VAR_006314 disease phenotype-associated VAR_006314 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240] VAR_006314 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400] VAR_006315 commonName VAR_006315 VAR_006315 disease phenotype-associated VAR_006315 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240] VAR_006315 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400] VAR_006316 commonName VAR_006316 VAR_006316 disease phenotype-associated VAR_006316 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_006316 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240] VAR_006316 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400] VAR_006317 commonName VAR_006317 VAR_006317 disease phenotype-associated VAR_006317 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240] VAR_006317 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400] VAR_006318 commonName VAR_006318 VAR_006318 disease phenotype-associated VAR_006318 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240] VAR_006318 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400] VAR_006319 commonName VAR_006319 VAR_006319 disease phenotype-associated VAR_006319 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400] VAR_006320 commonName VAR_006320 VAR_006320 disease phenotype-associated VAR_006320 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240] VAR_006320 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400] VAR_006321 comment Thyroid carcinoma VAR_006321 commonName VAR_006321 VAR_006323 commonName VAR_006323 VAR_006323 disease phenotype-associated VAR_006323 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400] VAR_006323 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_006324 commonName VAR_006324 VAR_006324 disease phenotype-associated VAR_006324 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400] VAR_006324 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_006325 commonName VAR_006325 VAR_006325 disease phenotype-associated VAR_006325 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240] VAR_006325 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400] VAR_006325 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_006326 commonName VAR_006326 VAR_006326 disease phenotype-associated VAR_006326 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240] VAR_006326 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400] VAR_006326 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_006327 commonName VAR_006327 VAR_006327 disease phenotype-associated VAR_006327 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240] VAR_006327 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400] VAR_006327 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_006328 commonName VAR_006328 VAR_006328 disease phenotype-associated VAR_006328 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240] VAR_006328 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400] VAR_006328 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_006331 commonName VAR_006331 VAR_006331 disease phenotype-associated VAR_006331 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_006332 commonName VAR_006332 VAR_006332 disease not phenotype-associated VAR_006334 commonName VAR_006334 VAR_006334 disease phenotype-associated VAR_006334 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_006335 commonName VAR_006335 VAR_006335 disease phenotype-associated VAR_006335 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240] VAR_006336 commonName VAR_006336 VAR_006336 disease phenotype-associated VAR_006336 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240] VAR_006337 commonName VAR_006337 VAR_006337 disease phenotype-associated VAR_006337 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240] VAR_006338 commonName VAR_006338 VAR_006338 disease phenotype-associated VAR_006338 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_006339 commonName VAR_006339 VAR_006339 disease phenotype-associated VAR_006339 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_006340 commonName VAR_006340 VAR_006340 disease phenotype-associated VAR_006340 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_006341 commonName VAR_006341 VAR_006341 disease phenotype-associated VAR_006341 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_006342 commonName VAR_006342 VAR_006342 disease phenotype-associated VAR_006342 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240] VAR_006342 phenoCommon Multiple neoplasia type 2B (MEN2B) [MIM:162300] VAR_006342 phenoCommon Renal adysplasia (RADYS) [MIM:191830] VAR_006343 commonName VAR_006343 VAR_006343 disease phenotype-associated VAR_006343 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_006345 commonName VAR_006345 VAR_006345 disease phenotype-associated VAR_006345 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240] VAR_006345 phenoCommon Multiple neoplasia type 2B (MEN2B) [MIM:162300] VAR_006346 commonName VAR_006346 VAR_006346 disease phenotype-associated VAR_006346 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_006347 commonName VAR_006347 VAR_006347 disease phenotype-associated VAR_006347 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_006348 commonName VAR_006348 VAR_006348 disease phenotype-associated VAR_006348 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_006349 commonName VAR_006349 VAR_006349 disease not phenotype-associated VAR_006350 commonName VAR_006350 VAR_006350 disease not phenotype-associated VAR_006355 commonName VAR_006355 VAR_006355 disease phenotype-associated VAR_006355 phenoCommon Ehlers-Danlos syndrome type 6 (EDS6) [MIM:225400] VAR_006356 commonName VAR_006356 VAR_006356 disease phenotype-associated VAR_006356 phenoCommon Ehlers-Danlos syndrome type 6 (EDS6) [MIM:225400] VAR_006357 commonName VAR_006357 VAR_006357 disease phenotype-associated VAR_006357 phenoCommon Rhizomelic chondrodysplasia punctata type 2 (RCDP2) [MIM:222765] VAR_006358 commonName VAR_006358 VAR_006358 disease phenotype-associated VAR_006358 phenoCommon Rhizomelic chondrodysplasia punctata type 2 (RCDP2) [MIM:222765] VAR_006359 commonName VAR_006359 VAR_006359 disease phenotype-associated VAR_006359 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_006360 commonName VAR_006360 VAR_006360 disease phenotype-associated VAR_006360 phenoCommon Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220] VAR_006360 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_006361 commonName VAR_006361 VAR_006361 disease phenotype-associated VAR_006361 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_006362 commonName VAR_006362 VAR_006362 disease phenotype-associated VAR_006362 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_006363 commonName VAR_006363 VAR_006363 disease phenotype-associated VAR_006363 phenoCommon Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220] VAR_006363 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_006364 commonName VAR_006364 VAR_006364 disease phenotype-associated VAR_006364 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_006365 commonName VAR_006365 VAR_006365 disease phenotype-associated VAR_006365 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_006366 commonName VAR_006366 VAR_006366 disease phenotype-associated VAR_006366 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_006367 commonName VAR_006367 VAR_006367 disease phenotype-associated VAR_006367 phenoCommon Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220] VAR_006368 commonName VAR_006368 VAR_006368 disease phenotype-associated VAR_006368 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_006369 commonName VAR_006369 VAR_006369 disease phenotype-associated VAR_006369 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_006371 commonName VAR_006371 VAR_006371 disease phenotype-associated VAR_006371 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_006372 commonName VAR_006372 VAR_006372 disease phenotype-associated VAR_006372 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_006373 commonName VAR_006373 VAR_006373 disease phenotype-associated VAR_006373 phenoCommon Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220] VAR_006373 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_006374 commonName VAR_006374 VAR_006374 disease phenotype-associated VAR_006374 phenoCommon Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220] VAR_006375 commonName VAR_006375 VAR_006375 disease phenotype-associated VAR_006375 phenoCommon Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220] VAR_006376 commonName VAR_006376 VAR_006376 disease not phenotype-associated VAR_006377 commonName VAR_006377 VAR_006377 disease phenotype-associated VAR_006377 phenoCommon Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220] VAR_006378 commonName VAR_006378 VAR_006378 disease phenotype-associated VAR_006378 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_006379 commonName VAR_006379 VAR_006379 disease phenotype-associated VAR_006379 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_006380 commonName VAR_006380 VAR_006380 disease not phenotype-associated VAR_006382 commonName VAR_006382 VAR_006382 disease not phenotype-associated VAR_006384 comment A lung cancer patient VAR_006384 commonName VAR_006384 VAR_006385 comment Colon cancer VAR_006385 commonName VAR_006385 VAR_006387 commonName VAR_006387 VAR_006387 disease phenotype-associated VAR_006387 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_006388 commonName VAR_006388 VAR_006388 disease phenotype-associated VAR_006388 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_006389 commonName VAR_006389 VAR_006389 disease phenotype-associated VAR_006389 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_006390 commonName VAR_006390 VAR_006390 disease phenotype-associated VAR_006390 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_006391 commonName VAR_006391 VAR_006391 disease phenotype-associated VAR_006391 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_006392 commonName VAR_006392 VAR_006392 disease phenotype-associated VAR_006392 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_006393 commonName VAR_006393 VAR_006393 disease phenotype-associated VAR_006393 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_006394 commonName VAR_006394 VAR_006394 disease phenotype-associated VAR_006394 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_006395 commonName VAR_006395 VAR_006395 disease phenotype-associated VAR_006395 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_006396 commonName VAR_006396 VAR_006396 disease phenotype-associated VAR_006396 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_006397 commonName VAR_006397 VAR_006397 disease phenotype-associated VAR_006397 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_006398 commonName VAR_006398 VAR_006398 disease phenotype-associated VAR_006398 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_006399 commonName VAR_006399 VAR_006399 disease phenotype-associated VAR_006399 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_006400 commonName VAR_006400 VAR_006400 disease phenotype-associated VAR_006400 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_006401 commonName VAR_006401 VAR_006401 disease phenotype-associated VAR_006401 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_006402 commonName VAR_006402 VAR_006402 disease phenotype-associated VAR_006402 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_006403 commonName VAR_006403 VAR_006403 disease phenotype-associated VAR_006403 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_006404 commonName VAR_006404 VAR_006404 disease phenotype-associated VAR_006404 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_006406 commonName VAR_006406 VAR_006406 disease phenotype-associated VAR_006406 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_006407 commonName VAR_006407 VAR_006407 disease phenotype-associated VAR_006407 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_006408 commonName VAR_006408 VAR_006408 disease phenotype-associated VAR_006408 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_006411 commonName VAR_006411 VAR_006411 disease not phenotype-associated VAR_006412 commonName VAR_006412 VAR_006412 disease not phenotype-associated VAR_006413 commonName VAR_006413 VAR_006413 disease phenotype-associated VAR_006413 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006414 commonName VAR_006414 VAR_006414 disease phenotype-associated VAR_006414 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006415 commonName VAR_006415 VAR_006415 disease phenotype-associated VAR_006415 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006416 commonName VAR_006416 VAR_006416 disease phenotype-associated VAR_006416 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006417 commonName VAR_006417 VAR_006417 disease phenotype-associated VAR_006417 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006418 commonName VAR_006418 VAR_006418 disease phenotype-associated VAR_006418 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006419 commonName VAR_006419 VAR_006419 disease phenotype-associated VAR_006419 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006420 commonName VAR_006420 VAR_006420 disease phenotype-associated VAR_006420 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006421 commonName VAR_006421 VAR_006421 disease phenotype-associated VAR_006421 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006422 commonName VAR_006422 VAR_006422 disease phenotype-associated VAR_006422 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006423 commonName VAR_006423 VAR_006423 disease phenotype-associated VAR_006423 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006424 commonName VAR_006424 VAR_006424 disease phenotype-associated VAR_006424 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006425 commonName VAR_006425 VAR_006425 disease phenotype-associated VAR_006425 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006426 commonName VAR_006426 VAR_006426 disease phenotype-associated VAR_006426 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006427 commonName VAR_006427 VAR_006427 disease phenotype-associated VAR_006427 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006428 commonName VAR_006428 VAR_006428 disease phenotype-associated VAR_006428 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006429 commonName VAR_006429 VAR_006429 disease phenotype-associated VAR_006429 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006430 commonName VAR_006430 VAR_006430 disease phenotype-associated VAR_006430 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006431 commonName VAR_006431 VAR_006431 disease phenotype-associated VAR_006431 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006432 commonName VAR_006432 VAR_006432 disease phenotype-associated VAR_006432 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006433 commonName VAR_006433 VAR_006433 disease phenotype-associated VAR_006433 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006434 commonName VAR_006434 VAR_006434 disease phenotype-associated VAR_006434 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006435 commonName VAR_006435 VAR_006435 disease phenotype-associated VAR_006435 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006436 commonName VAR_006436 VAR_006436 disease phenotype-associated VAR_006436 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006437 commonName VAR_006437 VAR_006437 disease phenotype-associated VAR_006437 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006438 commonName VAR_006438 VAR_006439 commonName VAR_006439 VAR_006439 disease phenotype-associated VAR_006439 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006440 commonName VAR_006440 VAR_006440 disease phenotype-associated VAR_006440 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006441 commonName VAR_006441 VAR_006441 disease phenotype-associated VAR_006441 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006442 commonName VAR_006442 VAR_006442 disease phenotype-associated VAR_006442 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006443 commonName VAR_006443 VAR_006443 disease phenotype-associated VAR_006443 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006444 commonName VAR_006444 VAR_006444 disease phenotype-associated VAR_006444 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006445 commonName VAR_006445 VAR_006445 disease phenotype-associated VAR_006445 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006446 commonName VAR_006446 VAR_006446 disease phenotype-associated VAR_006446 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006447 commonName VAR_006447 VAR_006447 disease phenotype-associated VAR_006447 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006448 commonName VAR_006448 VAR_006448 disease phenotype-associated VAR_006448 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006449 commonName VAR_006449 VAR_006449 disease phenotype-associated VAR_006449 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006450 commonName VAR_006450 VAR_006450 disease phenotype-associated VAR_006450 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006451 commonName VAR_006451 VAR_006451 disease phenotype-associated VAR_006451 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006452 commonName VAR_006452 VAR_006452 disease phenotype-associated VAR_006452 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006453 commonName VAR_006453 VAR_006453 disease phenotype-associated VAR_006453 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006454 commonName VAR_006454 VAR_006454 disease not phenotype-associated VAR_006455 commonName VAR_006455 VAR_006455 disease phenotype-associated VAR_006455 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006456 commonName VAR_006456 VAR_006456 disease phenotype-associated VAR_006456 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006457 commonName VAR_006457 VAR_006457 disease phenotype-associated VAR_006457 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006458 commonName VAR_006458 VAR_006458 disease phenotype-associated VAR_006458 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006459 commonName VAR_006459 VAR_006459 disease phenotype-associated VAR_006459 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006460 commonName VAR_006460 VAR_006460 disease phenotype-associated VAR_006460 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_006461 commonName VAR_006461 VAR_006461 disease phenotype-associated VAR_006461 phenoCommon Alzheimer disease type 4 (AD4) [MIM:606889] VAR_006462 commonName VAR_006462 VAR_006462 disease phenotype-associated VAR_006462 phenoCommon Alzheimer disease type 4 (AD4) [MIM:606889] VAR_006463 commonName VAR_006463 VAR_006463 disease phenotype-associated VAR_006463 phenoCommon Alzheimer disease type 4 (AD4) [MIM:606889] VAR_006464 commonName VAR_006464 VAR_006464 disease phenotype-associated VAR_006464 phenoCommon Gerstmann-Straussler disease (GSD) [MIM:137440] VAR_006465 commonName VAR_006465 VAR_006465 disease phenotype-associated VAR_006465 phenoCommon Gerstmann-Straussler disease (GSD) [MIM:137440] VAR_006466 commonName VAR_006466 VAR_006467 commonName VAR_006467 VAR_006467 disease not phenotype-associated VAR_006468 commonName VAR_006468 VAR_006468 disease not phenotype-associated VAR_006469 commonName VAR_006469 VAR_006469 disease phenotype-associated VAR_006469 phenoCommon Creutzfeldt-Jakob disease (CJD) [MIM:123400] VAR_006469 phenoCommon Fatal familial insomnia (FFI) [MIM:600072] VAR_006469 phenoCommon High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD) VAR_006470 commonName VAR_006470 VAR_006470 disease phenotype-associated VAR_006470 phenoCommon Creutzfeldt-Jakob disease (CJD) [MIM:123400] VAR_006470 phenoCommon High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD) VAR_006471 commonName VAR_006471 VAR_006472 commonName VAR_006472 VAR_006472 disease phenotype-associated VAR_006472 phenoCommon Gerstmann-Straussler disease (GSD) [MIM:137440] VAR_006473 commonName VAR_006473 VAR_006473 disease phenotype-associated VAR_006473 phenoCommon Creutzfeldt-Jakob disease (CJD) [MIM:123400] VAR_006473 phenoCommon High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD) VAR_006474 commonName VAR_006474 VAR_006474 disease phenotype-associated VAR_006474 phenoCommon Creutzfeldt-Jakob disease (CJD) [MIM:123400] VAR_006474 phenoCommon High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD) VAR_006475 commonName VAR_006475 VAR_006475 disease phenotype-associated VAR_006475 phenoCommon Creutzfeldt-Jakob disease (CJD) [MIM:123400] VAR_006475 phenoCommon High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD) VAR_006476 commonName VAR_006476 VAR_006476 disease phenotype-associated VAR_006476 phenoCommon Gerstmann-Straussler disease (GSD) [MIM:137440] VAR_006477 commonName VAR_006477 VAR_006477 disease not phenotype-associated VAR_006479 comment A breast cancer sample VAR_006479 commonName VAR_006479 VAR_006480 comment A breast cancer sample VAR_006480 commonName VAR_006480 VAR_006490 commonName VAR_006490 VAR_006491 commonName VAR_006491 VAR_006491 disease not phenotype-associated VAR_006497 commonName VAR_006497 VAR_006497 disease phenotype-associated VAR_006497 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_006498 commonName VAR_006498 VAR_006498 disease phenotype-associated VAR_006498 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_006499 commonName VAR_006499 VAR_006499 disease phenotype-associated VAR_006499 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_006500 commonName VAR_006500 VAR_006500 disease phenotype-associated VAR_006500 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_006501 commonName VAR_006501 VAR_006501 disease phenotype-associated VAR_006501 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_006502 commonName VAR_006502 VAR_006502 disease phenotype-associated VAR_006502 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_006503 commonName VAR_006503 VAR_006503 disease phenotype-associated VAR_006503 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_006504 commonName VAR_006504 VAR_006504 disease phenotype-associated VAR_006504 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_006505 commonName VAR_006505 VAR_006505 disease phenotype-associated VAR_006505 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_006506 commonName VAR_006506 VAR_006506 disease phenotype-associated VAR_006506 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_006507 commonName VAR_006507 VAR_006507 disease phenotype-associated VAR_006507 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_006508 commonName VAR_006508 VAR_006508 disease phenotype-associated VAR_006508 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_006509 commonName VAR_006509 VAR_006509 disease phenotype-associated VAR_006509 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_006510 commonName VAR_006510 VAR_006510 disease phenotype-associated VAR_006510 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_006511 commonName VAR_006511 VAR_006511 disease phenotype-associated VAR_006511 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_006512 commonName VAR_006512 VAR_006512 disease phenotype-associated VAR_006512 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_006513 commonName VAR_006513 VAR_006513 disease phenotype-associated VAR_006513 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_006514 commonName VAR_006514 VAR_006514 disease phenotype-associated VAR_006514 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_006515 commonName VAR_006515 VAR_006515 disease phenotype-associated VAR_006515 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_006516 commonName VAR_006516 VAR_006516 disease phenotype-associated VAR_006516 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_006517 commonName VAR_006517 VAR_006517 disease phenotype-associated VAR_006517 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_006518 commonName VAR_006518 VAR_006518 disease not phenotype-associated VAR_006519 commonName VAR_006519 VAR_006519 disease phenotype-associated VAR_006519 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_006520 commonName VAR_006520 VAR_006520 disease not phenotype-associated VAR_006521 commonName VAR_006521 VAR_006521 disease phenotype-associated VAR_006521 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006522 commonName VAR_006522 VAR_006522 disease phenotype-associated VAR_006522 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006523 commonName VAR_006523 VAR_006523 disease phenotype-associated VAR_006523 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006524 commonName VAR_006524 VAR_006524 disease phenotype-associated VAR_006524 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006525 commonName VAR_006525 VAR_006525 disease phenotype-associated VAR_006525 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006526 commonName VAR_006526 VAR_006526 disease phenotype-associated VAR_006526 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006527 commonName VAR_006527 VAR_006527 disease phenotype-associated VAR_006527 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006528 commonName VAR_006528 VAR_006528 disease phenotype-associated VAR_006528 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006529 commonName VAR_006529 VAR_006529 disease phenotype-associated VAR_006529 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006530 commonName VAR_006530 VAR_006530 disease phenotype-associated VAR_006530 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006531 commonName VAR_006531 VAR_006531 disease phenotype-associated VAR_006531 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006532 commonName VAR_006532 VAR_006532 disease phenotype-associated VAR_006532 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006533 commonName VAR_006533 VAR_006533 disease phenotype-associated VAR_006533 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006534 commonName VAR_006534 VAR_006534 disease phenotype-associated VAR_006534 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006535 commonName VAR_006535 VAR_006535 disease phenotype-associated VAR_006535 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006536 commonName VAR_006536 VAR_006536 disease phenotype-associated VAR_006536 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006538 commonName VAR_006538 VAR_006538 disease phenotype-associated VAR_006538 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006539 commonName VAR_006539 VAR_006539 disease phenotype-associated VAR_006539 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006540 commonName VAR_006540 VAR_006540 disease phenotype-associated VAR_006540 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006541 commonName VAR_006541 VAR_006541 disease phenotype-associated VAR_006541 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006542 commonName VAR_006542 VAR_006542 disease phenotype-associated VAR_006542 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006543 commonName VAR_006543 VAR_006543 disease phenotype-associated VAR_006543 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006544 commonName VAR_006544 VAR_006544 disease phenotype-associated VAR_006544 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006545 commonName VAR_006545 VAR_006545 disease phenotype-associated VAR_006545 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006546 commonName VAR_006546 VAR_006546 disease phenotype-associated VAR_006546 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006547 commonName VAR_006547 VAR_006547 disease phenotype-associated VAR_006547 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006548 commonName VAR_006548 VAR_006548 disease phenotype-associated VAR_006548 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006549 commonName VAR_006549 VAR_006549 disease phenotype-associated VAR_006549 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006550 commonName VAR_006550 VAR_006550 disease phenotype-associated VAR_006550 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006551 commonName VAR_006551 VAR_006551 disease phenotype-associated VAR_006551 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006552 commonName VAR_006552 VAR_006552 disease phenotype-associated VAR_006552 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006553 commonName VAR_006553 VAR_006553 disease phenotype-associated VAR_006553 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006554 commonName VAR_006554 VAR_006554 disease phenotype-associated VAR_006554 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006555 commonName VAR_006555 VAR_006555 disease phenotype-associated VAR_006555 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006556 commonName VAR_006556 VAR_006556 disease phenotype-associated VAR_006556 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006557 commonName VAR_006557 VAR_006557 disease phenotype-associated VAR_006557 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006558 commonName VAR_006558 VAR_006558 disease phenotype-associated VAR_006558 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006560 commonName VAR_006560 VAR_006560 disease phenotype-associated VAR_006560 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006561 commonName VAR_006561 VAR_006561 disease phenotype-associated VAR_006561 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006562 commonName VAR_006562 VAR_006562 disease phenotype-associated VAR_006562 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006563 commonName VAR_006563 VAR_006563 disease phenotype-associated VAR_006563 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006564 commonName VAR_006564 VAR_006564 disease phenotype-associated VAR_006564 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006565 commonName VAR_006565 VAR_006565 disease phenotype-associated VAR_006565 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006566 commonName VAR_006566 VAR_006566 disease phenotype-associated VAR_006566 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006567 commonName VAR_006567 VAR_006567 disease phenotype-associated VAR_006567 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006568 commonName VAR_006568 VAR_006568 disease phenotype-associated VAR_006568 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006569 commonName VAR_006569 VAR_006569 disease phenotype-associated VAR_006569 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006570 commonName VAR_006570 VAR_006570 disease phenotype-associated VAR_006570 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006571 commonName VAR_006571 VAR_006571 disease phenotype-associated VAR_006571 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006572 commonName VAR_006572 VAR_006572 disease phenotype-associated VAR_006572 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006573 commonName VAR_006573 VAR_006573 disease phenotype-associated VAR_006573 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006574 commonName VAR_006574 VAR_006574 disease phenotype-associated VAR_006574 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006575 commonName VAR_006575 VAR_006575 disease phenotype-associated VAR_006575 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006576 commonName VAR_006576 VAR_006576 disease phenotype-associated VAR_006576 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006577 commonName VAR_006577 VAR_006577 disease phenotype-associated VAR_006577 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006578 commonName VAR_006578 VAR_006578 disease phenotype-associated VAR_006578 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006579 commonName VAR_006579 VAR_006579 disease phenotype-associated VAR_006579 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006580 commonName VAR_006580 VAR_006580 disease phenotype-associated VAR_006580 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006582 commonName VAR_006582 VAR_006582 disease phenotype-associated VAR_006582 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006583 commonName VAR_006583 VAR_006583 disease phenotype-associated VAR_006583 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006584 commonName VAR_006584 VAR_006584 disease phenotype-associated VAR_006584 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006585 commonName VAR_006585 VAR_006585 disease phenotype-associated VAR_006585 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006586 commonName VAR_006586 VAR_006586 disease phenotype-associated VAR_006586 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006587 commonName VAR_006587 VAR_006587 disease phenotype-associated VAR_006587 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006588 commonName VAR_006588 VAR_006588 disease phenotype-associated VAR_006588 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006589 commonName VAR_006589 VAR_006589 disease phenotype-associated VAR_006589 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006590 commonName VAR_006590 VAR_006590 disease phenotype-associated VAR_006590 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006591 commonName VAR_006591 VAR_006591 disease phenotype-associated VAR_006591 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006592 commonName VAR_006592 VAR_006592 disease phenotype-associated VAR_006592 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006593 commonName VAR_006593 VAR_006593 disease phenotype-associated VAR_006593 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006594 commonName VAR_006594 VAR_006594 disease phenotype-associated VAR_006594 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006595 commonName VAR_006595 VAR_006595 disease phenotype-associated VAR_006595 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006596 commonName VAR_006596 VAR_006596 disease phenotype-associated VAR_006596 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006597 commonName VAR_006597 VAR_006597 disease phenotype-associated VAR_006597 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006598 commonName VAR_006598 VAR_006598 disease phenotype-associated VAR_006598 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006599 commonName VAR_006599 VAR_006599 disease phenotype-associated VAR_006599 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006600 commonName VAR_006600 VAR_006600 disease phenotype-associated VAR_006600 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006601 commonName VAR_006601 VAR_006601 disease phenotype-associated VAR_006601 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006602 commonName VAR_006602 VAR_006602 disease phenotype-associated VAR_006602 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006603 commonName VAR_006603 VAR_006603 disease phenotype-associated VAR_006603 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006604 commonName VAR_006604 VAR_006604 disease phenotype-associated VAR_006604 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006605 commonName VAR_006605 VAR_006605 disease phenotype-associated VAR_006605 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006606 commonName VAR_006606 VAR_006606 disease phenotype-associated VAR_006606 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006607 commonName VAR_006607 VAR_006607 disease phenotype-associated VAR_006607 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006608 commonName VAR_006608 VAR_006608 disease phenotype-associated VAR_006608 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006609 commonName VAR_006609 VAR_006609 disease phenotype-associated VAR_006609 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006610 commonName VAR_006610 VAR_006610 disease phenotype-associated VAR_006610 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006611 commonName VAR_006611 VAR_006611 disease phenotype-associated VAR_006611 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006612 commonName VAR_006612 VAR_006612 disease phenotype-associated VAR_006612 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006613 commonName VAR_006613 VAR_006613 disease phenotype-associated VAR_006613 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006614 commonName VAR_006614 VAR_006614 disease phenotype-associated VAR_006614 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006615 commonName VAR_006615 VAR_006615 disease phenotype-associated VAR_006615 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006616 commonName VAR_006616 VAR_006616 disease phenotype-associated VAR_006616 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006618 commonName VAR_006618 VAR_006618 disease phenotype-associated VAR_006618 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006619 commonName VAR_006619 VAR_006619 disease phenotype-associated VAR_006619 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006620 commonName VAR_006620 VAR_006620 disease phenotype-associated VAR_006620 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006621 commonName VAR_006621 VAR_006621 disease phenotype-associated VAR_006621 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_006622 commonName VAR_006622 VAR_006622 disease phenotype-associated VAR_006622 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_006623 commonName VAR_006623 VAR_006623 disease phenotype-associated VAR_006623 phenoCommon Factor XII deficiency (FA12D) [MIM:234000] VAR_006624 commonName VAR_006624 VAR_006624 disease phenotype-associated VAR_006624 phenoCommon Factor XII deficiency (FA12D) [MIM:234000] VAR_006625 commonName VAR_006625 VAR_006625 disease not phenotype-associated VAR_006626 commonName VAR_006626 VAR_006626 disease not phenotype-associated VAR_006627 commonName VAR_006627 VAR_006627 disease phenotype-associated VAR_006627 phenoCommon Plasminogen deficiency (PLGD) [MIM:217090] VAR_006628 commonName VAR_006628 VAR_006628 disease phenotype-associated VAR_006628 phenoCommon Plasminogen deficiency (PLGD) [MIM:217090] VAR_006629 commonName VAR_006629 VAR_006629 disease phenotype-associated VAR_006629 phenoCommon Plasminogen deficiency (PLGD) [MIM:217090] VAR_006630 commonName VAR_006630 VAR_006630 disease phenotype-associated VAR_006630 phenoCommon Plasminogen deficiency (PLGD) [MIM:217090] VAR_006631 commonName VAR_006631 VAR_006631 disease not phenotype-associated VAR_006632 commonName VAR_006632 VAR_006632 disease not phenotype-associated VAR_006634 commonName VAR_006634 VAR_006635 commonName VAR_006635 VAR_006635 disease phenotype-associated VAR_006635 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] VAR_006636 commonName VAR_006636 VAR_006637 commonName VAR_006637 VAR_006638 commonName VAR_006638 VAR_006639 commonName VAR_006639 VAR_006639 disease not phenotype-associated VAR_006640 commonName VAR_006640 VAR_006641 commonName VAR_006641 VAR_006642 commonName VAR_006642 VAR_006642 disease phenotype-associated VAR_006642 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] VAR_006643 commonName VAR_006643 VAR_006644 commonName VAR_006644 VAR_006645 commonName VAR_006645 VAR_006645 disease phenotype-associated VAR_006645 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] VAR_006646 commonName VAR_006646 VAR_006646 disease phenotype-associated VAR_006646 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] VAR_006647 commonName VAR_006647 VAR_006648 commonName VAR_006648 VAR_006649 commonName VAR_006649 VAR_006651 commonName VAR_006651 VAR_006651 disease phenotype-associated VAR_006651 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] VAR_006652 commonName VAR_006652 VAR_006656 commonName VAR_006656 VAR_006656 disease phenotype-associated VAR_006656 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] VAR_006657 commonName VAR_006657 VAR_006658 commonName VAR_006658 VAR_006659 commonName VAR_006659 VAR_006660 commonName VAR_006660 VAR_006660 disease phenotype-associated VAR_006660 phenoCommon Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304] VAR_006661 commonName VAR_006661 VAR_006662 commonName VAR_006662 VAR_006663 commonName VAR_006663 VAR_006664 commonName VAR_006664 VAR_006664 disease phenotype-associated VAR_006664 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] VAR_006665 commonName VAR_006665 VAR_006665 disease phenotype-associated VAR_006665 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] VAR_006666 commonName VAR_006666 VAR_006666 disease not phenotype-associated VAR_006667 commonName VAR_006667 VAR_006668 commonName VAR_006668 VAR_006668 disease phenotype-associated VAR_006668 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] VAR_006669 commonName VAR_006669 VAR_006669 disease phenotype-associated VAR_006669 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] VAR_006670 commonName VAR_006670 VAR_006671 commonName VAR_006671 VAR_006671 disease phenotype-associated VAR_006671 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] VAR_006672 commonName VAR_006672 VAR_006673 commonName VAR_006673 VAR_006674 commonName VAR_006674 VAR_006675 commonName VAR_006675 VAR_006676 commonName VAR_006676 VAR_006677 commonName VAR_006677 VAR_006677 disease phenotype-associated VAR_006677 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] VAR_006679 commonName VAR_006679 VAR_006679 disease phenotype-associated VAR_006679 phenoCommon Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304] VAR_006680 commonName VAR_006680 VAR_006681 commonName VAR_006681 VAR_006682 commonName VAR_006682 VAR_006683 commonName VAR_006683 VAR_006684 commonName VAR_006684 VAR_006685 commonName VAR_006685 VAR_006686 commonName VAR_006686 VAR_006687 commonName VAR_006687 VAR_006687 disease phenotype-associated VAR_006687 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] VAR_006688 commonName VAR_006688 VAR_006688 disease phenotype-associated VAR_006688 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] VAR_006689 commonName VAR_006689 VAR_006689 disease phenotype-associated VAR_006689 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] VAR_006690 commonName VAR_006690 VAR_006690 disease phenotype-associated VAR_006690 phenoCommon Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304] VAR_006691 commonName VAR_006691 VAR_006691 disease phenotype-associated VAR_006691 phenoCommon Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304] VAR_006692 commonName VAR_006692 VAR_006692 disease phenotype-associated VAR_006692 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] VAR_006693 commonName VAR_006693 VAR_006695 commonName VAR_006695 VAR_006695 disease phenotype-associated VAR_006695 phenoCommon Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304] VAR_006696 commonName VAR_006696 VAR_006696 disease phenotype-associated VAR_006696 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] VAR_006697 commonName VAR_006697 VAR_006698 commonName VAR_006698 VAR_006699 commonName VAR_006699 VAR_006700 commonName VAR_006700 VAR_006700 disease phenotype-associated VAR_006700 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] VAR_006701 commonName VAR_006701 VAR_006702 commonName VAR_006702 VAR_006702 disease phenotype-associated VAR_006702 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] VAR_006703 commonName VAR_006703 VAR_006703 disease phenotype-associated VAR_006703 phenoCommon Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304] VAR_006704 commonName VAR_006704 VAR_006704 disease phenotype-associated VAR_006704 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] VAR_006705 commonName VAR_006705 VAR_006705 disease phenotype-associated VAR_006705 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] VAR_006706 commonName VAR_006706 VAR_006707 commonName VAR_006707 VAR_006707 disease phenotype-associated VAR_006707 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] VAR_006708 commonName VAR_006708 VAR_006708 disease phenotype-associated VAR_006708 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] VAR_006709 commonName VAR_006709 VAR_006709 disease phenotype-associated VAR_006709 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] VAR_006710 commonName VAR_006710 VAR_006711 commonName VAR_006711 VAR_006711 disease phenotype-associated VAR_006711 phenoCommon Factor II deficiency (FA2D) [MIM:613679] VAR_006712 commonName VAR_006712 VAR_006712 disease phenotype-associated VAR_006712 phenoCommon Factor II deficiency (FA2D) [MIM:613679] VAR_006713 commonName VAR_006713 VAR_006713 disease phenotype-associated VAR_006713 phenoCommon Factor II deficiency (FA2D) [MIM:613679] VAR_006714 commonName VAR_006714 VAR_006714 disease phenotype-associated VAR_006714 phenoCommon Factor II deficiency (FA2D) [MIM:613679] VAR_006715 commonName VAR_006715 VAR_006715 disease phenotype-associated VAR_006715 phenoCommon Factor II deficiency (FA2D) [MIM:613679] VAR_006716 commonName VAR_006716 VAR_006716 disease phenotype-associated VAR_006716 phenoCommon Factor II deficiency (FA2D) [MIM:613679] VAR_006717 commonName VAR_006717 VAR_006717 disease phenotype-associated VAR_006717 phenoCommon Factor II deficiency (FA2D) [MIM:613679] VAR_006718 commonName VAR_006718 VAR_006718 disease phenotype-associated VAR_006718 phenoCommon Factor II deficiency (FA2D) [MIM:613679] VAR_006719 commonName VAR_006719 VAR_006719 disease phenotype-associated VAR_006719 phenoCommon Factor II deficiency (FA2D) [MIM:613679] VAR_006720 commonName VAR_006720 VAR_006720 disease phenotype-associated VAR_006720 phenoCommon Pancreatitis (PCTT) [MIM:167800] VAR_006721 commonName VAR_006721 VAR_006721 disease phenotype-associated VAR_006721 phenoCommon Pancreatitis (PCTT) [MIM:167800] VAR_006722 commonName VAR_006722 VAR_006722 disease not phenotype-associated VAR_006724 commonName VAR_006724 VAR_006724 disease not phenotype-associated VAR_006725 commonName VAR_006725 VAR_006725 disease phenotype-associated VAR_006725 phenoCommon Pycnodysostosis (PKND) [MIM:265800] VAR_006726 commonName VAR_006726 VAR_006726 disease phenotype-associated VAR_006726 phenoCommon Pycnodysostosis (PKND) [MIM:265800] VAR_006727 commonName VAR_006727 VAR_006727 disease not phenotype-associated VAR_006728 commonName VAR_006728 VAR_006728 disease not phenotype-associated VAR_006729 commonName VAR_006729 VAR_006729 disease not phenotype-associated VAR_006730 commonName VAR_006730 VAR_006730 disease not phenotype-associated VAR_006731 commonName VAR_006731 VAR_006732 commonName VAR_006732 VAR_006732 disease not phenotype-associated VAR_006733 commonName VAR_006733 VAR_006733 disease not phenotype-associated VAR_006734 commonName VAR_006734 VAR_006735 commonName VAR_006735 VAR_006736 commonName VAR_006736 VAR_006737 commonName VAR_006737 VAR_006737 disease not phenotype-associated VAR_006738 commonName VAR_006738 VAR_006738 disease phenotype-associated VAR_006738 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] VAR_006739 commonName VAR_006739 VAR_006739 disease phenotype-associated VAR_006739 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] VAR_006740 commonName VAR_006740 VAR_006740 disease phenotype-associated VAR_006740 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] VAR_006741 commonName VAR_006741 VAR_006741 disease phenotype-associated VAR_006741 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] VAR_006742 commonName VAR_006742 VAR_006742 disease phenotype-associated VAR_006742 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] VAR_006743 commonName VAR_006743 VAR_006743 disease phenotype-associated VAR_006743 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] VAR_006744 commonName VAR_006744 VAR_006744 disease phenotype-associated VAR_006744 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] VAR_006745 commonName VAR_006745 VAR_006745 disease phenotype-associated VAR_006745 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] VAR_006746 commonName VAR_006746 VAR_006746 disease phenotype-associated VAR_006746 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] VAR_006747 commonName VAR_006747 VAR_006747 disease phenotype-associated VAR_006747 phenoCommon Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:102600] VAR_006748 commonName VAR_006748 VAR_006748 disease phenotype-associated VAR_006748 phenoCommon Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:102600] VAR_006749 commonName VAR_006749 VAR_006749 disease phenotype-associated VAR_006749 phenoCommon Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:102600] VAR_006750 commonName VAR_006750 VAR_006750 disease phenotype-associated VAR_006750 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323] VAR_006751 commonName VAR_006751 VAR_006751 disease phenotype-associated VAR_006751 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322] VAR_006752 commonName VAR_006752 VAR_006752 disease phenotype-associated VAR_006752 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322] VAR_006753 commonName VAR_006753 VAR_006753 disease phenotype-associated VAR_006753 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323] VAR_006754 commonName VAR_006754 VAR_006754 disease phenotype-associated VAR_006754 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323] VAR_006755 commonName VAR_006755 VAR_006755 disease phenotype-associated VAR_006755 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323] VAR_006756 commonName VAR_006756 VAR_006756 disease phenotype-associated VAR_006756 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322] VAR_006757 commonName VAR_006757 VAR_006757 disease phenotype-associated VAR_006757 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322] VAR_006758 commonName VAR_006758 VAR_006758 disease phenotype-associated VAR_006758 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322] VAR_006760 commonName VAR_006760 VAR_006760 disease phenotype-associated VAR_006760 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322] VAR_006761 commonName VAR_006761 VAR_006761 disease phenotype-associated VAR_006761 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323] VAR_006762 commonName VAR_006762 VAR_006762 disease phenotype-associated VAR_006762 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322] VAR_006763 commonName VAR_006763 VAR_006763 disease phenotype-associated VAR_006763 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322] VAR_006764 commonName VAR_006764 VAR_006764 disease phenotype-associated VAR_006764 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323] VAR_006765 commonName VAR_006765 VAR_006765 disease phenotype-associated VAR_006765 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322] VAR_006766 commonName VAR_006766 VAR_006767 commonName VAR_006767 VAR_006767 disease phenotype-associated VAR_006767 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323] VAR_006768 commonName VAR_006768 VAR_006768 disease phenotype-associated VAR_006768 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323] VAR_006769 commonName VAR_006769 VAR_006769 disease phenotype-associated VAR_006769 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322] VAR_006770 commonName VAR_006770 VAR_006770 disease phenotype-associated VAR_006770 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322] VAR_006771 commonName VAR_006771 VAR_006771 disease phenotype-associated VAR_006771 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323] VAR_006772 commonName VAR_006772 VAR_006773 commonName VAR_006773 VAR_006773 disease phenotype-associated VAR_006773 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322] VAR_006774 commonName VAR_006774 VAR_006774 disease phenotype-associated VAR_006774 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322] VAR_006775 commonName VAR_006775 VAR_006775 disease phenotype-associated VAR_006775 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322] VAR_006776 commonName VAR_006776 VAR_006776 disease phenotype-associated VAR_006776 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323] VAR_006777 commonName VAR_006777 VAR_006777 disease phenotype-associated VAR_006777 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323] VAR_006778 commonName VAR_006778 VAR_006778 disease phenotype-associated VAR_006778 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323] VAR_006779 commonName VAR_006779 VAR_006779 disease phenotype-associated VAR_006779 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323] VAR_006780 commonName VAR_006780 VAR_006780 disease phenotype-associated VAR_006780 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322] VAR_006781 commonName VAR_006781 VAR_006781 disease phenotype-associated VAR_006781 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322] VAR_006782 commonName VAR_006782 VAR_006782 disease phenotype-associated VAR_006782 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323] VAR_006783 commonName VAR_006783 VAR_006783 disease phenotype-associated VAR_006783 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322] VAR_006784 commonName VAR_006784 VAR_006784 disease phenotype-associated VAR_006784 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323] VAR_006785 commonName VAR_006785 VAR_006785 disease phenotype-associated VAR_006785 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322] VAR_006787 commonName VAR_006787 VAR_006787 disease phenotype-associated VAR_006787 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323] VAR_006788 commonName VAR_006788 VAR_006788 disease phenotype-associated VAR_006788 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322] VAR_006789 commonName VAR_006789 VAR_006789 disease phenotype-associated VAR_006789 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323] VAR_006790 commonName VAR_006790 VAR_006790 disease phenotype-associated VAR_006790 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322] VAR_006791 commonName VAR_006791 VAR_006791 disease phenotype-associated VAR_006791 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322] VAR_006792 commonName VAR_006792 VAR_006792 disease phenotype-associated VAR_006792 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322] VAR_006795 commonName VAR_006795 VAR_006796 commonName VAR_006796 VAR_006796 disease phenotype-associated VAR_006796 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323] VAR_006797 commonName VAR_006797 VAR_006797 disease phenotype-associated VAR_006797 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323] VAR_006798 commonName VAR_006798 VAR_006798 disease phenotype-associated VAR_006798 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322] VAR_006799 commonName VAR_006799 VAR_006799 disease phenotype-associated VAR_006799 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323] VAR_006800 commonName VAR_006800 VAR_006800 disease phenotype-associated VAR_006800 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322] VAR_006801 commonName VAR_006801 VAR_006801 disease phenotype-associated VAR_006801 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323] VAR_006802 commonName VAR_006802 VAR_006802 disease phenotype-associated VAR_006802 phenoCommon Gout HPRT-related (GOUT-HPRT) [MIM:300323] VAR_006803 commonName VAR_006803 VAR_006803 disease phenotype-associated VAR_006803 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322] VAR_006804 commonName VAR_006804 VAR_006804 disease phenotype-associated VAR_006804 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322] VAR_006805 commonName VAR_006805 VAR_006805 disease phenotype-associated VAR_006805 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322] VAR_006806 commonName VAR_006806 VAR_006806 disease phenotype-associated VAR_006806 phenoCommon Lesch-Nyhan syndrome (LNS) [MIM:300322] VAR_006807 commonName VAR_006807 VAR_006807 disease phenotype-associated VAR_006807 phenoCommon Orotic aciduria type 1 (ORAC1) [MIM:258900] VAR_006808 commonName VAR_006808 VAR_006808 disease phenotype-associated VAR_006808 phenoCommon Orotic aciduria type 1 (ORAC1) [MIM:258900] VAR_006809 commonName VAR_006809 VAR_006809 disease not phenotype-associated VAR_006811 commonName VAR_006811 VAR_006811 disease phenotype-associated VAR_006811 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] VAR_006813 commonName VAR_006813 VAR_006813 disease phenotype-associated VAR_006813 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] VAR_006814 commonName VAR_006814 VAR_006814 disease phenotype-associated VAR_006814 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] VAR_006815 commonName VAR_006815 VAR_006815 disease phenotype-associated VAR_006815 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] VAR_006816 commonName VAR_006816 VAR_006816 disease phenotype-associated VAR_006816 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] VAR_006817 commonName VAR_006817 VAR_006817 disease phenotype-associated VAR_006817 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] VAR_006818 commonName VAR_006818 VAR_006818 disease phenotype-associated VAR_006818 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] VAR_006819 commonName VAR_006819 VAR_006819 disease phenotype-associated VAR_006819 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] VAR_006820 commonName VAR_006820 VAR_006820 disease phenotype-associated VAR_006820 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] VAR_006821 commonName VAR_006821 VAR_006821 disease phenotype-associated VAR_006821 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] VAR_006822 commonName VAR_006822 VAR_006822 disease phenotype-associated VAR_006822 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] VAR_006824 commonName VAR_006824 VAR_006824 disease phenotype-associated VAR_006824 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] VAR_006825 commonName VAR_006825 VAR_006825 disease phenotype-associated VAR_006825 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] VAR_006826 commonName VAR_006826 VAR_006826 disease phenotype-associated VAR_006826 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] VAR_006827 commonName VAR_006827 VAR_006827 disease phenotype-associated VAR_006827 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] VAR_006828 commonName VAR_006828 VAR_006828 disease phenotype-associated VAR_006828 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] VAR_006829 commonName VAR_006829 VAR_006829 disease phenotype-associated VAR_006829 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] VAR_006830 commonName VAR_006830 VAR_006830 disease phenotype-associated VAR_006830 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] VAR_006831 commonName VAR_006831 VAR_006831 disease phenotype-associated VAR_006831 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] VAR_006832 commonName VAR_006832 VAR_006832 disease phenotype-associated VAR_006832 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] VAR_006833 commonName VAR_006833 VAR_006833 disease phenotype-associated VAR_006833 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] VAR_006834 commonName VAR_006834 VAR_006834 disease not phenotype-associated VAR_006835 commonName VAR_006835 VAR_006835 disease phenotype-associated VAR_006835 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_006836 commonName VAR_006836 VAR_006836 disease phenotype-associated VAR_006836 phenoCommon Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] VAR_006836 phenoCommon Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] VAR_006837 commonName VAR_006837 VAR_006837 disease phenotype-associated VAR_006837 phenoCommon Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] VAR_006837 phenoCommon Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] VAR_006837 phenoCommon Oral squamous cell carcinoma (OSCC) VAR_006838 comment Melanoma VAR_006838 commonName VAR_006838 VAR_006839 comment Lung carcinoma VAR_006839 commonName VAR_006839 VAR_006840 comment Lung carcinoma VAR_006840 commonName VAR_006840 VAR_006840 disease phenotype-associated VAR_006840 phenoCommon Gastric cancer (GASC) [MIM:613659] VAR_006841 comment Lung carcinoma VAR_006841 commonName VAR_006841 VAR_006845 comment Colorectal cancer VAR_006845 commonName VAR_006845 VAR_006846 commonName VAR_006846 VAR_006847 comment Lung carcinoma cell VAR_006847 commonName VAR_006847 VAR_006848 comment An ovarian cancer sample VAR_006848 commonName VAR_006848 VAR_006849 commonName VAR_006849 VAR_006849 disease not phenotype-associated VAR_006853 commonName VAR_006853 VAR_006853 disease phenotype-associated VAR_006853 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133] VAR_006854 commonName VAR_006854 VAR_006855 commonName VAR_006855 VAR_006855 disease phenotype-associated VAR_006855 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133] VAR_006857 commonName VAR_006857 VAR_006857 disease phenotype-associated VAR_006857 phenoCommon Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150] VAR_006859 commonName VAR_006859 VAR_006859 disease phenotype-associated VAR_006859 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133] VAR_006860 commonName VAR_006860 VAR_006860 disease phenotype-associated VAR_006860 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133] VAR_006861 commonName VAR_006861 VAR_006861 disease phenotype-associated VAR_006861 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133] VAR_006863 commonName VAR_006863 VAR_006863 disease phenotype-associated VAR_006863 phenoCommon Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150] VAR_006864 commonName VAR_006864 VAR_006864 disease phenotype-associated VAR_006864 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133] VAR_006865 commonName VAR_006865 VAR_006865 disease phenotype-associated VAR_006865 phenoCommon Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150] VAR_006866 commonName VAR_006866 VAR_006866 disease phenotype-associated VAR_006866 phenoCommon Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150] VAR_006867 commonName VAR_006867 VAR_006868 commonName VAR_006868 VAR_006869 commonName VAR_006869 VAR_006869 disease phenotype-associated VAR_006869 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133] VAR_006870 commonName VAR_006870 VAR_006871 commonName VAR_006871 VAR_006871 disease phenotype-associated VAR_006871 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133] VAR_006873 commonName VAR_006873 VAR_006873 disease phenotype-associated VAR_006873 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133] VAR_006874 commonName VAR_006874 VAR_006874 disease phenotype-associated VAR_006874 phenoCommon Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150] VAR_006874 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133] VAR_006875 commonName VAR_006875 VAR_006875 disease phenotype-associated VAR_006875 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133] VAR_006876 commonName VAR_006876 VAR_006876 disease phenotype-associated VAR_006876 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133] VAR_006877 commonName VAR_006877 VAR_006877 disease phenotype-associated VAR_006877 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133] VAR_006878 commonName VAR_006878 VAR_006878 disease phenotype-associated VAR_006878 phenoCommon Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161] VAR_006879 commonName VAR_006879 VAR_006879 disease phenotype-associated VAR_006879 phenoCommon Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150] VAR_006880 commonName VAR_006880 VAR_006880 disease phenotype-associated VAR_006880 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133] VAR_006881 commonName VAR_006881 VAR_006881 disease phenotype-associated VAR_006881 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133] VAR_006882 commonName VAR_006882 VAR_006882 disease phenotype-associated VAR_006882 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133] VAR_006883 commonName VAR_006883 VAR_006885 commonName VAR_006885 VAR_006885 disease phenotype-associated VAR_006885 phenoCommon Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150] VAR_006886 commonName VAR_006886 VAR_006886 disease phenotype-associated VAR_006886 phenoCommon Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150] VAR_006887 commonName VAR_006887 VAR_006887 disease phenotype-associated VAR_006887 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133] VAR_006888 commonName VAR_006888 VAR_006889 commonName VAR_006889 VAR_006889 disease phenotype-associated VAR_006889 phenoCommon Retinitis pigmentosa type 7 (RP7) [MIM:608133] VAR_006890 commonName VAR_006890 VAR_006890 disease phenotype-associated VAR_006890 phenoCommon Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161] VAR_006891 commonName VAR_006891 VAR_006891 disease not phenotype-associated VAR_006892 commonName VAR_006892 VAR_006892 disease phenotype-associated VAR_006892 phenoCommon Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161] VAR_006893 commonName VAR_006893 VAR_006893 disease not phenotype-associated VAR_006894 commonName VAR_006894 VAR_006894 disease not phenotype-associated VAR_006895 commonName VAR_006895 VAR_006895 disease not phenotype-associated VAR_006896 commonName VAR_006896 VAR_006896 disease not phenotype-associated VAR_006897 commonName VAR_006897 VAR_006897 disease not phenotype-associated VAR_006898 commonName VAR_006898 VAR_006898 disease not phenotype-associated VAR_006899 commonName VAR_006899 VAR_006899 disease not phenotype-associated VAR_006900 commonName VAR_006900 VAR_006900 disease not phenotype-associated VAR_006901 commonName VAR_006901 VAR_006901 disease phenotype-associated VAR_006901 phenoCommon Bloom syndrome (BLM) [MIM:210900] VAR_006902 commonName VAR_006902 VAR_006902 disease phenotype-associated VAR_006902 phenoCommon Bloom syndrome (BLM) [MIM:210900] VAR_006903 commonName VAR_006903 VAR_006903 disease phenotype-associated VAR_006903 phenoCommon Bloom syndrome (BLM) [MIM:210900] VAR_006904 commonName VAR_006904 VAR_006904 disease not phenotype-associated VAR_006905 commonName VAR_006905 VAR_006905 disease not phenotype-associated VAR_006907 commonName VAR_006907 VAR_006911 commonName VAR_006911 VAR_006912 commonName VAR_006912 VAR_006913 commonName VAR_006913 VAR_006914 commonName VAR_006914 VAR_006914 disease not phenotype-associated VAR_006915 commonName VAR_006915 VAR_006915 disease not phenotype-associated VAR_006916 commonName VAR_006916 VAR_006916 disease not phenotype-associated VAR_006917 commonName VAR_006917 VAR_006917 disease not phenotype-associated VAR_006918 commonName VAR_006918 VAR_006918 disease not phenotype-associated VAR_006919 commonName VAR_006919 VAR_006920 commonName VAR_006920 VAR_006920 disease not phenotype-associated VAR_006921 commonName VAR_006921 VAR_006921 disease phenotype-associated VAR_006921 phenoCommon Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150] VAR_006922 commonName VAR_006922 VAR_006922 disease not phenotype-associated VAR_006924 commonName VAR_006924 VAR_006924 disease phenotype-associated VAR_006924 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] VAR_006934 commonName VAR_006934 VAR_006934 disease not phenotype-associated VAR_006935 commonName VAR_006935 VAR_006935 disease phenotype-associated VAR_006935 phenoCommon Methionine adenosyltransferase deficiency (MATD) [MIM:250850] VAR_006936 commonName VAR_006936 VAR_006936 disease phenotype-associated VAR_006936 phenoCommon Methionine adenosyltransferase deficiency (MATD) [MIM:250850] VAR_006937 commonName VAR_006937 VAR_006937 disease phenotype-associated VAR_006937 phenoCommon Methionine adenosyltransferase deficiency (MATD) [MIM:250850] VAR_006938 commonName VAR_006938 VAR_006938 disease phenotype-associated VAR_006938 phenoCommon Methionine adenosyltransferase deficiency (MATD) [MIM:250850] VAR_006939 commonName VAR_006939 VAR_006939 disease phenotype-associated VAR_006939 phenoCommon Methionine adenosyltransferase deficiency (MATD) [MIM:250850] VAR_006940 commonName VAR_006940 VAR_006940 disease phenotype-associated VAR_006940 phenoCommon Methionine adenosyltransferase deficiency (MATD) [MIM:250850] VAR_006941 commonName VAR_006941 VAR_006941 disease phenotype-associated VAR_006941 phenoCommon Methionine adenosyltransferase deficiency (MATD) [MIM:250850] VAR_006942 commonName VAR_006942 VAR_006942 disease phenotype-associated VAR_006942 phenoCommon Methionine adenosyltransferase deficiency (MATD) [MIM:250850] VAR_006943 commonName VAR_006943 VAR_006943 disease phenotype-associated VAR_006943 phenoCommon Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB) [MIM:249900] VAR_006944 commonName VAR_006944 VAR_006944 disease phenotype-associated VAR_006944 phenoCommon Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB) [MIM:249900] VAR_006945 commonName VAR_006945 VAR_006945 disease phenotype-associated VAR_006945 phenoCommon Atypical Gaucher disease (AGD) [MIM:610539] VAR_006947 commonName VAR_006947 VAR_006947 disease phenotype-associated VAR_006947 phenoCommon GM2-gangliosidosis type AB (GM2GAB) [MIM:272750] VAR_006951 commonName VAR_006951 VAR_006951 disease not phenotype-associated VAR_006952 commonName VAR_006952 VAR_006952 disease not phenotype-associated VAR_006953 commonName VAR_006953 VAR_006953 disease phenotype-associated VAR_006953 phenoCommon Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] VAR_006954 commonName VAR_006954 VAR_006954 disease phenotype-associated VAR_006954 phenoCommon Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] VAR_006955 commonName VAR_006955 VAR_006955 disease phenotype-associated VAR_006955 phenoCommon Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] VAR_006956 commonName VAR_006956 VAR_006956 disease phenotype-associated VAR_006956 phenoCommon Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] VAR_006957 commonName VAR_006957 VAR_006957 disease phenotype-associated VAR_006957 phenoCommon Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] VAR_006958 commonName VAR_006958 VAR_006958 disease phenotype-associated VAR_006958 phenoCommon Apparent mineralocorticoid excess (AME) [MIM:218030] VAR_006959 commonName VAR_006959 VAR_006959 disease phenotype-associated VAR_006959 phenoCommon Apparent mineralocorticoid excess (AME) [MIM:218030] VAR_006960 commonName VAR_006960 VAR_006960 disease phenotype-associated VAR_006960 phenoCommon BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630] VAR_006961 commonName VAR_006961 VAR_006961 disease phenotype-associated VAR_006961 phenoCommon BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630] VAR_006962 commonName VAR_006962 VAR_006962 disease phenotype-associated VAR_006962 phenoCommon BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630] VAR_006963 commonName VAR_006963 VAR_006963 disease phenotype-associated VAR_006963 phenoCommon BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630] VAR_006965 commonName VAR_006965 VAR_006965 disease phenotype-associated VAR_006965 phenoCommon BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630] VAR_006966 commonName VAR_006966 VAR_006966 disease phenotype-associated VAR_006966 phenoCommon BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630] VAR_006967 commonName VAR_006967 VAR_006967 disease phenotype-associated VAR_006967 phenoCommon BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630] VAR_006968 commonName VAR_006968 VAR_006968 disease phenotype-associated VAR_006968 phenoCommon BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630] VAR_006969 commonName VAR_006969 VAR_006969 disease phenotype-associated VAR_006969 phenoCommon BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630] VAR_006970 commonName VAR_006970 VAR_006970 disease phenotype-associated VAR_006970 phenoCommon BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630] VAR_006973 commonName VAR_006973 VAR_006973 disease not phenotype-associated VAR_006974 commonName VAR_006974 VAR_006974 disease not phenotype-associated VAR_006975 commonName VAR_006975 VAR_006975 disease not phenotype-associated VAR_006976 commonName VAR_006976 VAR_006976 disease not phenotype-associated VAR_006977 commonName VAR_006977 VAR_006978 commonName VAR_006978 VAR_006979 commonName VAR_006979 VAR_006980 commonName VAR_006980 VAR_006981 commonName VAR_006981 VAR_006981 disease not phenotype-associated VAR_006982 commonName VAR_006982 VAR_006982 disease not phenotype-associated VAR_006983 commonName VAR_006983 VAR_006985 commonName VAR_006985 VAR_006985 disease not phenotype-associated VAR_006986 commonName VAR_006986 VAR_006987 commonName VAR_006987 VAR_006987 disease not phenotype-associated VAR_006988 commonName VAR_006988 VAR_006989 commonName VAR_006989 VAR_006990 commonName VAR_006990 VAR_006990 disease not phenotype-associated VAR_006991 commonName VAR_006991 VAR_006991 disease not phenotype-associated VAR_006992 commonName VAR_006992 VAR_006992 disease not phenotype-associated VAR_006993 commonName VAR_006993 VAR_006994 commonName VAR_006994 VAR_006995 commonName VAR_006995 VAR_006996 commonName VAR_006996 VAR_006997 commonName VAR_006997 VAR_006997 disease not phenotype-associated VAR_006998 commonName VAR_006998 VAR_006998 disease not phenotype-associated VAR_006999 commonName VAR_006999 VAR_006999 disease not phenotype-associated VAR_007000 commonName VAR_007000 VAR_007000 disease not phenotype-associated VAR_007001 commonName VAR_007001 VAR_007002 commonName VAR_007002 VAR_007002 disease not phenotype-associated VAR_007003 commonName VAR_007003 VAR_007004 commonName VAR_007004 VAR_007004 disease not phenotype-associated VAR_007005 commonName VAR_007005 VAR_007006 commonName VAR_007006 VAR_007007 commonName VAR_007007 VAR_007008 commonName VAR_007008 VAR_007009 commonName VAR_007009 VAR_007010 commonName VAR_007010 VAR_007010 disease not phenotype-associated VAR_007011 commonName VAR_007011 VAR_007013 commonName VAR_007013 VAR_007013 disease phenotype-associated VAR_007013 phenoCommon Hereditary angioedema (HAE) [MIM:106100] VAR_007032 commonName VAR_007032 VAR_007032 disease not phenotype-associated VAR_007033 commonName VAR_007033 VAR_007033 disease phenotype-associated VAR_007033 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007034 commonName VAR_007034 VAR_007035 commonName VAR_007035 VAR_007035 disease phenotype-associated VAR_007035 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007036 commonName VAR_007036 VAR_007036 disease phenotype-associated VAR_007036 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007037 commonName VAR_007037 VAR_007037 disease phenotype-associated VAR_007037 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007038 commonName VAR_007038 VAR_007038 disease phenotype-associated VAR_007038 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007039 commonName VAR_007039 VAR_007039 disease phenotype-associated VAR_007039 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007041 commonName VAR_007041 VAR_007041 disease phenotype-associated VAR_007041 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007042 commonName VAR_007042 VAR_007042 disease phenotype-associated VAR_007042 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007044 commonName VAR_007044 VAR_007044 disease phenotype-associated VAR_007044 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007045 commonName VAR_007045 VAR_007045 disease phenotype-associated VAR_007045 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007046 commonName VAR_007046 VAR_007046 disease phenotype-associated VAR_007046 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007047 commonName VAR_007047 VAR_007047 disease phenotype-associated VAR_007047 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007049 commonName VAR_007049 VAR_007049 disease phenotype-associated VAR_007049 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007050 commonName VAR_007050 VAR_007050 disease phenotype-associated VAR_007050 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007051 commonName VAR_007051 VAR_007051 disease phenotype-associated VAR_007051 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007053 commonName VAR_007053 VAR_007053 disease phenotype-associated VAR_007053 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007054 commonName VAR_007054 VAR_007054 disease phenotype-associated VAR_007054 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007055 commonName VAR_007055 VAR_007055 disease not phenotype-associated VAR_007056 commonName VAR_007056 VAR_007056 disease phenotype-associated VAR_007056 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007057 commonName VAR_007057 VAR_007057 disease phenotype-associated VAR_007057 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007058 commonName VAR_007058 VAR_007058 disease phenotype-associated VAR_007058 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007059 commonName VAR_007059 VAR_007059 disease phenotype-associated VAR_007059 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007060 commonName VAR_007060 VAR_007060 disease phenotype-associated VAR_007060 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007062 commonName VAR_007062 VAR_007062 disease phenotype-associated VAR_007062 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007063 commonName VAR_007063 VAR_007063 disease phenotype-associated VAR_007063 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007064 commonName VAR_007064 VAR_007064 disease phenotype-associated VAR_007064 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007065 commonName VAR_007065 VAR_007065 disease phenotype-associated VAR_007065 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007067 commonName VAR_007067 VAR_007067 disease phenotype-associated VAR_007067 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007068 commonName VAR_007068 VAR_007068 disease not phenotype-associated VAR_007069 commonName VAR_007069 VAR_007069 disease phenotype-associated VAR_007069 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007070 commonName VAR_007070 VAR_007070 disease phenotype-associated VAR_007070 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007071 commonName VAR_007071 VAR_007071 disease phenotype-associated VAR_007071 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007072 commonName VAR_007072 VAR_007072 disease phenotype-associated VAR_007072 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007073 commonName VAR_007073 VAR_007073 disease phenotype-associated VAR_007073 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007074 commonName VAR_007074 VAR_007074 disease phenotype-associated VAR_007074 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007075 commonName VAR_007075 VAR_007075 disease phenotype-associated VAR_007075 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007076 commonName VAR_007076 VAR_007076 disease phenotype-associated VAR_007076 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007077 commonName VAR_007077 VAR_007077 disease phenotype-associated VAR_007077 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007078 commonName VAR_007078 VAR_007078 disease phenotype-associated VAR_007078 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007079 commonName VAR_007079 VAR_007079 disease phenotype-associated VAR_007079 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007080 commonName VAR_007080 VAR_007080 disease phenotype-associated VAR_007080 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007081 commonName VAR_007081 VAR_007081 disease phenotype-associated VAR_007081 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007082 commonName VAR_007082 VAR_007082 disease phenotype-associated VAR_007082 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007083 commonName VAR_007083 VAR_007083 disease phenotype-associated VAR_007083 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007084 commonName VAR_007084 VAR_007084 disease phenotype-associated VAR_007084 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007085 commonName VAR_007085 VAR_007085 disease phenotype-associated VAR_007085 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007086 commonName VAR_007086 VAR_007086 disease phenotype-associated VAR_007086 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007087 commonName VAR_007087 VAR_007087 disease phenotype-associated VAR_007087 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007088 commonName VAR_007088 VAR_007088 disease phenotype-associated VAR_007088 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007090 commonName VAR_007090 VAR_007090 disease phenotype-associated VAR_007090 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007091 commonName VAR_007091 VAR_007091 disease phenotype-associated VAR_007091 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007092 commonName VAR_007092 VAR_007092 disease phenotype-associated VAR_007092 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_007093 commonName VAR_007093 VAR_007093 disease not phenotype-associated VAR_007094 commonName VAR_007094 VAR_007095 commonName VAR_007095 VAR_007095 disease not phenotype-associated VAR_007096 commonName VAR_007096 VAR_007096 disease not phenotype-associated VAR_007097 commonName VAR_007097 VAR_007097 disease not phenotype-associated VAR_007099 commonName VAR_007099 VAR_007099 disease not phenotype-associated VAR_007100 commonName VAR_007100 VAR_007100 disease not phenotype-associated VAR_007101 commonName VAR_007101 VAR_007101 disease not phenotype-associated VAR_007102 commonName VAR_007102 VAR_007102 disease phenotype-associated VAR_007102 phenoCommon Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200] VAR_007103 commonName VAR_007103 VAR_007103 disease phenotype-associated VAR_007103 phenoCommon Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200] VAR_007104 commonName VAR_007104 VAR_007104 disease phenotype-associated VAR_007104 phenoCommon Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200] VAR_007105 commonName VAR_007105 VAR_007105 disease not phenotype-associated VAR_007106 commonName VAR_007106 VAR_007106 disease not phenotype-associated VAR_007107 commonName VAR_007107 VAR_007107 disease phenotype-associated VAR_007107 phenoCommon Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200] VAR_007111 commonName VAR_007111 VAR_007111 disease phenotype-associated VAR_007111 phenoCommon Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489] VAR_007112 commonName VAR_007112 VAR_007112 disease phenotype-associated VAR_007112 phenoCommon Thrombophilia due to heparin cofactor 2 deficiency (THPH10) [MIM:612356] VAR_007113 commonName VAR_007113 VAR_007113 disease phenotype-associated VAR_007113 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_007114 commonName VAR_007114 VAR_007114 disease phenotype-associated VAR_007114 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_007115 commonName VAR_007115 VAR_007115 disease phenotype-associated VAR_007115 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_007116 commonName VAR_007116 VAR_007116 disease phenotype-associated VAR_007116 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_007117 commonName VAR_007117 VAR_007117 disease phenotype-associated VAR_007117 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_007119 commonName VAR_007119 VAR_007119 disease phenotype-associated VAR_007119 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_007120 commonName VAR_007120 VAR_007120 disease phenotype-associated VAR_007120 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_007121 commonName VAR_007121 VAR_007121 disease phenotype-associated VAR_007121 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_007122 commonName VAR_007122 VAR_007122 disease phenotype-associated VAR_007122 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_007123 commonName VAR_007123 VAR_007123 disease not phenotype-associated VAR_007124 commonName VAR_007124 VAR_007124 disease phenotype-associated VAR_007124 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_007125 commonName VAR_007125 VAR_007125 disease phenotype-associated VAR_007125 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_007126 commonName VAR_007126 VAR_007126 disease phenotype-associated VAR_007126 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_007127 commonName VAR_007127 VAR_007127 disease phenotype-associated VAR_007127 phenoCommon Autosomal recessive pseudohypoaldosteronism type 1 (AR-PHA1) [MIM:264350] VAR_007128 commonName VAR_007128 VAR_007128 disease phenotype-associated VAR_007128 phenoCommon Liddle syndrome (LIDDS) [MIM:177200] VAR_007129 commonName VAR_007129 VAR_007129 disease phenotype-associated VAR_007129 phenoCommon Liddle syndrome (LIDDS) [MIM:177200] VAR_007130 commonName VAR_007130 VAR_007130 disease phenotype-associated VAR_007130 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007131 commonName VAR_007131 VAR_007131 disease phenotype-associated VAR_007131 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007132 commonName VAR_007132 VAR_007132 disease phenotype-associated VAR_007132 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007133 commonName VAR_007133 VAR_007133 disease phenotype-associated VAR_007133 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007134 commonName VAR_007134 VAR_007134 disease phenotype-associated VAR_007134 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007135 commonName VAR_007135 VAR_007135 disease phenotype-associated VAR_007135 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007136 commonName VAR_007136 VAR_007136 disease phenotype-associated VAR_007136 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007137 commonName VAR_007137 VAR_007137 disease phenotype-associated VAR_007137 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007138 commonName VAR_007138 VAR_007138 disease phenotype-associated VAR_007138 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007139 commonName VAR_007139 VAR_007139 disease phenotype-associated VAR_007139 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007140 commonName VAR_007140 VAR_007140 disease phenotype-associated VAR_007140 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007141 commonName VAR_007141 VAR_007141 disease phenotype-associated VAR_007141 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007142 commonName VAR_007142 VAR_007142 disease phenotype-associated VAR_007142 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007143 commonName VAR_007143 VAR_007143 disease phenotype-associated VAR_007143 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007144 commonName VAR_007144 VAR_007144 disease phenotype-associated VAR_007144 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007145 commonName VAR_007145 VAR_007145 disease phenotype-associated VAR_007145 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007146 commonName VAR_007146 VAR_007146 disease phenotype-associated VAR_007146 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007147 commonName VAR_007147 VAR_007147 disease phenotype-associated VAR_007147 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007148 commonName VAR_007148 VAR_007148 disease phenotype-associated VAR_007148 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007149 commonName VAR_007149 VAR_007149 disease phenotype-associated VAR_007149 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007150 commonName VAR_007150 VAR_007150 disease phenotype-associated VAR_007150 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007151 commonName VAR_007151 VAR_007151 disease phenotype-associated VAR_007151 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007152 commonName VAR_007152 VAR_007152 disease phenotype-associated VAR_007152 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007153 commonName VAR_007153 VAR_007153 disease phenotype-associated VAR_007153 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007154 commonName VAR_007154 VAR_007154 disease phenotype-associated VAR_007154 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007155 commonName VAR_007155 VAR_007155 disease phenotype-associated VAR_007155 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007156 commonName VAR_007156 VAR_007156 disease phenotype-associated VAR_007156 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007157 commonName VAR_007157 VAR_007157 disease phenotype-associated VAR_007157 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007158 commonName VAR_007158 VAR_007158 disease phenotype-associated VAR_007158 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007159 commonName VAR_007159 VAR_007159 disease phenotype-associated VAR_007159 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007160 commonName VAR_007160 VAR_007160 disease phenotype-associated VAR_007160 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007161 commonName VAR_007161 VAR_007161 disease phenotype-associated VAR_007161 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007162 commonName VAR_007162 VAR_007162 disease phenotype-associated VAR_007162 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007163 commonName VAR_007163 VAR_007163 disease phenotype-associated VAR_007163 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007164 commonName VAR_007164 VAR_007164 disease phenotype-associated VAR_007164 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_007165 commonName VAR_007165 VAR_007165 disease not phenotype-associated VAR_007166 commonName VAR_007166 VAR_007166 disease not phenotype-associated VAR_007168 commonName VAR_007168 VAR_007168 disease phenotype-associated VAR_007168 phenoCommon Congenital glucose/galactose malabsorption (GGM) [MIM:606824] VAR_007169 commonName VAR_007169 VAR_007169 disease not phenotype-associated VAR_007170 commonName VAR_007170 VAR_007170 disease phenotype-associated VAR_007170 phenoCommon Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853] VAR_007171 commonName VAR_007171 VAR_007171 disease not phenotype-associated VAR_007172 commonName VAR_007172 VAR_007172 disease phenotype-associated VAR_007172 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007173 commonName VAR_007173 VAR_007173 disease phenotype-associated VAR_007173 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007174 commonName VAR_007174 VAR_007174 disease not phenotype-associated VAR_007175 commonName VAR_007175 VAR_007175 disease phenotype-associated VAR_007175 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007177 commonName VAR_007177 VAR_007177 disease phenotype-associated VAR_007177 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007178 commonName VAR_007178 VAR_007178 disease phenotype-associated VAR_007178 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007179 commonName VAR_007179 VAR_007179 disease phenotype-associated VAR_007179 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007180 commonName VAR_007180 VAR_007180 disease phenotype-associated VAR_007180 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007181 commonName VAR_007181 VAR_007181 disease phenotype-associated VAR_007181 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007182 commonName VAR_007182 VAR_007182 disease phenotype-associated VAR_007182 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007183 commonName VAR_007183 VAR_007183 disease phenotype-associated VAR_007183 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007184 commonName VAR_007184 VAR_007184 disease phenotype-associated VAR_007184 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007185 commonName VAR_007185 VAR_007185 disease phenotype-associated VAR_007185 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007186 commonName VAR_007186 VAR_007186 disease phenotype-associated VAR_007186 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007187 commonName VAR_007187 VAR_007187 disease phenotype-associated VAR_007187 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007188 commonName VAR_007188 VAR_007188 disease phenotype-associated VAR_007188 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007189 commonName VAR_007189 VAR_007189 disease phenotype-associated VAR_007189 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007190 commonName VAR_007190 VAR_007190 disease phenotype-associated VAR_007190 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007191 commonName VAR_007191 VAR_007191 disease phenotype-associated VAR_007191 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007192 commonName VAR_007192 VAR_007192 disease phenotype-associated VAR_007192 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007193 commonName VAR_007193 VAR_007193 disease phenotype-associated VAR_007193 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007194 commonName VAR_007194 VAR_007194 disease phenotype-associated VAR_007194 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007195 commonName VAR_007195 VAR_007195 disease phenotype-associated VAR_007195 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007196 commonName VAR_007196 VAR_007196 disease phenotype-associated VAR_007196 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007197 commonName VAR_007197 VAR_007197 disease phenotype-associated VAR_007197 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007198 commonName VAR_007198 VAR_007198 disease not phenotype-associated VAR_007199 commonName VAR_007199 VAR_007199 disease phenotype-associated VAR_007199 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007200 commonName VAR_007200 VAR_007200 disease phenotype-associated VAR_007200 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007201 commonName VAR_007201 VAR_007201 disease phenotype-associated VAR_007201 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007202 commonName VAR_007202 VAR_007202 disease not phenotype-associated VAR_007203 commonName VAR_007203 VAR_007203 disease phenotype-associated VAR_007203 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007204 commonName VAR_007204 VAR_007204 disease phenotype-associated VAR_007204 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007205 commonName VAR_007205 VAR_007205 disease not phenotype-associated VAR_007206 commonName VAR_007206 VAR_007206 disease phenotype-associated VAR_007206 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007207 commonName VAR_007207 VAR_007207 disease phenotype-associated VAR_007207 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007208 commonName VAR_007208 VAR_007208 disease phenotype-associated VAR_007208 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007210 commonName VAR_007210 VAR_007210 disease phenotype-associated VAR_007210 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007211 commonName VAR_007211 VAR_007211 disease phenotype-associated VAR_007211 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007212 commonName VAR_007212 VAR_007212 disease phenotype-associated VAR_007212 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007213 commonName VAR_007213 VAR_007213 disease phenotype-associated VAR_007213 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007214 commonName VAR_007214 VAR_007214 disease phenotype-associated VAR_007214 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007215 commonName VAR_007215 VAR_007215 disease phenotype-associated VAR_007215 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007216 commonName VAR_007216 VAR_007216 disease phenotype-associated VAR_007216 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007217 commonName VAR_007217 VAR_007217 disease phenotype-associated VAR_007217 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007218 commonName VAR_007218 VAR_007218 disease phenotype-associated VAR_007218 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007219 commonName VAR_007219 VAR_007219 disease phenotype-associated VAR_007219 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007221 commonName VAR_007221 VAR_007221 disease phenotype-associated VAR_007221 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007222 commonName VAR_007222 VAR_007222 disease phenotype-associated VAR_007222 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007223 commonName VAR_007223 VAR_007223 disease phenotype-associated VAR_007223 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007224 commonName VAR_007224 VAR_007224 disease phenotype-associated VAR_007224 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007225 commonName VAR_007225 VAR_007225 disease phenotype-associated VAR_007225 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007226 commonName VAR_007226 VAR_007226 disease phenotype-associated VAR_007226 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007227 commonName VAR_007227 VAR_007227 disease phenotype-associated VAR_007227 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007228 commonName VAR_007228 VAR_007228 disease phenotype-associated VAR_007228 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007229 commonName VAR_007229 VAR_007229 disease phenotype-associated VAR_007229 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007230 commonName VAR_007230 VAR_007230 disease not phenotype-associated VAR_007231 commonName VAR_007231 VAR_007231 disease phenotype-associated VAR_007231 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007232 commonName VAR_007232 VAR_007232 disease phenotype-associated VAR_007232 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007233 commonName VAR_007233 VAR_007233 disease phenotype-associated VAR_007233 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007234 commonName VAR_007234 VAR_007234 disease phenotype-associated VAR_007234 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007235 commonName VAR_007235 VAR_007235 disease phenotype-associated VAR_007235 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007236 commonName VAR_007236 VAR_007236 disease not phenotype-associated VAR_007237 commonName VAR_007237 VAR_007237 disease phenotype-associated VAR_007237 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007238 commonName VAR_007238 VAR_007238 disease not phenotype-associated VAR_007239 commonName VAR_007239 VAR_007239 disease phenotype-associated VAR_007239 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_007240 commonName VAR_007240 VAR_007240 disease phenotype-associated VAR_007240 phenoCommon Ichthyosis X-linked (IXL) [MIM:308100] VAR_007241 commonName VAR_007241 VAR_007241 disease phenotype-associated VAR_007241 phenoCommon Ichthyosis X-linked (IXL) [MIM:308100] VAR_007242 commonName VAR_007242 VAR_007242 disease phenotype-associated VAR_007242 phenoCommon Ichthyosis X-linked (IXL) [MIM:308100] VAR_007243 commonName VAR_007243 VAR_007243 disease not phenotype-associated VAR_007244 commonName VAR_007244 VAR_007244 disease phenotype-associated VAR_007244 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007245 commonName VAR_007245 VAR_007245 disease phenotype-associated VAR_007245 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007246 commonName VAR_007246 VAR_007246 disease phenotype-associated VAR_007246 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007247 commonName VAR_007247 VAR_007247 disease phenotype-associated VAR_007247 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007248 commonName VAR_007248 VAR_007248 disease phenotype-associated VAR_007248 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007249 commonName VAR_007249 VAR_007249 disease phenotype-associated VAR_007249 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007250 commonName VAR_007250 VAR_007250 disease phenotype-associated VAR_007250 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007251 commonName VAR_007251 VAR_007251 disease phenotype-associated VAR_007251 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007252 commonName VAR_007252 VAR_007252 disease phenotype-associated VAR_007252 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007253 commonName VAR_007253 VAR_007253 disease phenotype-associated VAR_007253 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007254 commonName VAR_007254 VAR_007254 disease phenotype-associated VAR_007254 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007255 commonName VAR_007255 VAR_007255 disease phenotype-associated VAR_007255 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007256 commonName VAR_007256 VAR_007256 disease phenotype-associated VAR_007256 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007257 commonName VAR_007257 VAR_007257 disease phenotype-associated VAR_007257 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007258 commonName VAR_007258 VAR_007258 disease phenotype-associated VAR_007258 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007259 commonName VAR_007259 VAR_007259 disease phenotype-associated VAR_007259 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007260 commonName VAR_007260 VAR_007260 disease phenotype-associated VAR_007260 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007261 commonName VAR_007261 VAR_007261 disease phenotype-associated VAR_007261 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007262 commonName VAR_007262 VAR_007262 disease not phenotype-associated VAR_007263 commonName VAR_007263 VAR_007263 disease phenotype-associated VAR_007263 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007264 commonName VAR_007264 VAR_007264 disease phenotype-associated VAR_007264 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007265 commonName VAR_007265 VAR_007265 disease phenotype-associated VAR_007265 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007266 commonName VAR_007266 VAR_007266 disease phenotype-associated VAR_007266 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007267 commonName VAR_007267 VAR_007267 disease phenotype-associated VAR_007267 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007268 commonName VAR_007268 VAR_007268 disease phenotype-associated VAR_007268 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007269 commonName VAR_007269 VAR_007269 disease phenotype-associated VAR_007269 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007270 commonName VAR_007270 VAR_007270 disease phenotype-associated VAR_007270 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007271 commonName VAR_007271 VAR_007271 disease phenotype-associated VAR_007271 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007272 commonName VAR_007272 VAR_007272 disease phenotype-associated VAR_007272 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007273 commonName VAR_007273 VAR_007273 disease phenotype-associated VAR_007273 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007274 commonName VAR_007274 VAR_007274 disease phenotype-associated VAR_007274 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007275 commonName VAR_007275 VAR_007275 disease phenotype-associated VAR_007275 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007276 commonName VAR_007276 VAR_007276 disease phenotype-associated VAR_007276 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007277 commonName VAR_007277 VAR_007277 disease phenotype-associated VAR_007277 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007278 commonName VAR_007278 VAR_007278 disease not phenotype-associated VAR_007279 commonName VAR_007279 VAR_007279 disease phenotype-associated VAR_007279 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007280 commonName VAR_007280 VAR_007280 disease phenotype-associated VAR_007280 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007281 commonName VAR_007281 VAR_007281 disease phenotype-associated VAR_007281 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007282 commonName VAR_007282 VAR_007282 disease phenotype-associated VAR_007282 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007283 commonName VAR_007283 VAR_007283 disease phenotype-associated VAR_007283 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007284 commonName VAR_007284 VAR_007284 disease phenotype-associated VAR_007284 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007285 commonName VAR_007285 VAR_007285 disease phenotype-associated VAR_007285 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007286 commonName VAR_007286 VAR_007286 disease phenotype-associated VAR_007286 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007287 commonName VAR_007287 VAR_007287 disease not phenotype-associated VAR_007288 commonName VAR_007288 VAR_007288 disease phenotype-associated VAR_007288 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_007294 commonName VAR_007294 VAR_007294 disease phenotype-associated VAR_007294 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] VAR_007295 commonName VAR_007295 VAR_007295 disease phenotype-associated VAR_007295 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] VAR_007296 commonName VAR_007296 VAR_007296 disease phenotype-associated VAR_007296 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] VAR_007297 commonName VAR_007297 VAR_007297 disease phenotype-associated VAR_007297 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] VAR_007298 commonName VAR_007298 VAR_007298 disease phenotype-associated VAR_007298 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] VAR_007299 commonName VAR_007299 VAR_007299 disease phenotype-associated VAR_007299 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] VAR_007300 commonName VAR_007300 VAR_007300 disease phenotype-associated VAR_007300 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] VAR_007301 commonName VAR_007301 VAR_007301 disease phenotype-associated VAR_007301 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] VAR_007302 commonName VAR_007302 VAR_007302 disease phenotype-associated VAR_007302 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] VAR_007303 commonName VAR_007303 VAR_007303 disease not phenotype-associated VAR_007304 commonName VAR_007304 VAR_007304 disease phenotype-associated VAR_007304 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] VAR_007305 commonName VAR_007305 VAR_007305 disease phenotype-associated VAR_007305 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] VAR_007306 commonName VAR_007306 VAR_007306 disease phenotype-associated VAR_007306 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] VAR_007307 commonName VAR_007307 VAR_007307 disease phenotype-associated VAR_007307 phenoCommon Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950] VAR_007308 commonName VAR_007308 VAR_007308 disease phenotype-associated VAR_007308 phenoCommon Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950] VAR_007309 commonName VAR_007309 VAR_007309 disease phenotype-associated VAR_007309 phenoCommon Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950] VAR_007310 commonName VAR_007310 VAR_007310 disease phenotype-associated VAR_007310 phenoCommon Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950] VAR_007311 commonName VAR_007311 VAR_007311 disease phenotype-associated VAR_007311 phenoCommon Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950] VAR_007312 commonName VAR_007312 VAR_007312 disease phenotype-associated VAR_007312 phenoCommon Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950] VAR_007313 commonName VAR_007313 VAR_007313 disease phenotype-associated VAR_007313 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007314 commonName VAR_007314 VAR_007314 disease phenotype-associated VAR_007314 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007315 commonName VAR_007315 VAR_007315 disease phenotype-associated VAR_007315 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007316 commonName VAR_007316 VAR_007316 disease phenotype-associated VAR_007316 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007317 commonName VAR_007317 VAR_007317 disease phenotype-associated VAR_007317 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007318 commonName VAR_007318 VAR_007318 disease phenotype-associated VAR_007318 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007319 commonName VAR_007319 VAR_007319 disease phenotype-associated VAR_007319 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007320 commonName VAR_007320 VAR_007320 disease phenotype-associated VAR_007320 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007321 commonName VAR_007321 VAR_007321 disease phenotype-associated VAR_007321 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007322 commonName VAR_007322 VAR_007322 disease phenotype-associated VAR_007322 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007323 commonName VAR_007323 VAR_007323 disease phenotype-associated VAR_007323 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007324 commonName VAR_007324 VAR_007324 disease phenotype-associated VAR_007324 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007325 commonName VAR_007325 VAR_007325 disease phenotype-associated VAR_007325 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007326 commonName VAR_007326 VAR_007326 disease phenotype-associated VAR_007326 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007327 commonName VAR_007327 VAR_007327 disease phenotype-associated VAR_007327 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007328 commonName VAR_007328 VAR_007328 disease phenotype-associated VAR_007328 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007329 commonName VAR_007329 VAR_007329 disease phenotype-associated VAR_007329 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007330 commonName VAR_007330 VAR_007330 disease phenotype-associated VAR_007330 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007331 commonName VAR_007331 VAR_007331 disease phenotype-associated VAR_007331 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007332 commonName VAR_007332 VAR_007332 disease phenotype-associated VAR_007332 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007333 commonName VAR_007333 VAR_007333 disease phenotype-associated VAR_007333 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007334 commonName VAR_007334 VAR_007334 disease phenotype-associated VAR_007334 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007335 commonName VAR_007335 VAR_007335 disease phenotype-associated VAR_007335 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007336 commonName VAR_007336 VAR_007336 disease phenotype-associated VAR_007336 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007337 commonName VAR_007337 VAR_007337 disease phenotype-associated VAR_007337 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007338 commonName VAR_007338 VAR_007338 disease phenotype-associated VAR_007338 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007339 commonName VAR_007339 VAR_007339 disease phenotype-associated VAR_007339 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007340 commonName VAR_007340 VAR_007340 disease phenotype-associated VAR_007340 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007341 commonName VAR_007341 VAR_007341 disease phenotype-associated VAR_007341 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007342 commonName VAR_007342 VAR_007342 disease phenotype-associated VAR_007342 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007344 commonName VAR_007344 VAR_007344 disease phenotype-associated VAR_007344 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007345 commonName VAR_007345 VAR_007345 disease phenotype-associated VAR_007345 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007346 commonName VAR_007346 VAR_007346 disease phenotype-associated VAR_007346 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007347 commonName VAR_007347 VAR_007347 disease phenotype-associated VAR_007347 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007348 commonName VAR_007348 VAR_007348 disease phenotype-associated VAR_007348 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007349 commonName VAR_007349 VAR_007349 disease phenotype-associated VAR_007349 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007350 commonName VAR_007350 VAR_007350 disease phenotype-associated VAR_007350 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007351 commonName VAR_007351 VAR_007351 disease phenotype-associated VAR_007351 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007352 commonName VAR_007352 VAR_007352 disease phenotype-associated VAR_007352 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007353 commonName VAR_007353 VAR_007353 disease phenotype-associated VAR_007353 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007354 commonName VAR_007354 VAR_007354 disease phenotype-associated VAR_007354 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007355 commonName VAR_007355 VAR_007355 disease phenotype-associated VAR_007355 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007356 commonName VAR_007356 VAR_007356 disease phenotype-associated VAR_007356 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007357 commonName VAR_007357 VAR_007357 disease phenotype-associated VAR_007357 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007358 commonName VAR_007358 VAR_007358 disease phenotype-associated VAR_007358 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007359 commonName VAR_007359 VAR_007359 disease phenotype-associated VAR_007359 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007360 commonName VAR_007360 VAR_007360 disease phenotype-associated VAR_007360 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007361 commonName VAR_007361 VAR_007361 disease phenotype-associated VAR_007361 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007362 commonName VAR_007362 VAR_007362 disease phenotype-associated VAR_007362 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_007388 commonName VAR_007388 VAR_007388 disease phenotype-associated VAR_007388 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_007389 commonName VAR_007389 VAR_007389 disease phenotype-associated VAR_007389 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_007390 commonName VAR_007390 VAR_007390 disease phenotype-associated VAR_007390 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_007391 commonName VAR_007391 VAR_007391 disease phenotype-associated VAR_007391 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_007392 commonName VAR_007392 VAR_007392 disease phenotype-associated VAR_007392 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_007393 commonName VAR_007393 VAR_007393 disease phenotype-associated VAR_007393 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_007395 commonName VAR_007395 VAR_007395 disease phenotype-associated VAR_007395 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_007396 commonName VAR_007396 VAR_007396 disease phenotype-associated VAR_007396 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_007397 commonName VAR_007397 VAR_007397 disease phenotype-associated VAR_007397 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_007398 commonName VAR_007398 VAR_007398 disease phenotype-associated VAR_007398 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_007399 commonName VAR_007399 VAR_007399 disease phenotype-associated VAR_007399 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_007400 commonName VAR_007400 VAR_007400 disease phenotype-associated VAR_007400 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_007401 commonName VAR_007401 VAR_007401 disease phenotype-associated VAR_007401 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_007402 commonName VAR_007402 VAR_007402 disease phenotype-associated VAR_007402 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_007403 commonName VAR_007403 VAR_007403 disease phenotype-associated VAR_007403 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_007404 commonName VAR_007404 VAR_007404 disease phenotype-associated VAR_007404 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_007405 commonName VAR_007405 VAR_007405 disease phenotype-associated VAR_007405 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_007406 commonName VAR_007406 VAR_007406 disease phenotype-associated VAR_007406 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_007407 commonName VAR_007407 VAR_007407 disease not phenotype-associated VAR_007408 commonName VAR_007408 VAR_007408 disease phenotype-associated VAR_007408 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_007409 commonName VAR_007409 VAR_007409 disease phenotype-associated VAR_007409 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_007410 commonName VAR_007410 VAR_007410 disease phenotype-associated VAR_007410 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_007411 commonName VAR_007411 VAR_007411 disease phenotype-associated VAR_007411 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_007412 commonName VAR_007412 VAR_007412 disease phenotype-associated VAR_007412 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_007425 commonName VAR_007425 VAR_007425 disease not phenotype-associated VAR_007426 commonName VAR_007426 VAR_007426 disease not phenotype-associated VAR_007427 commonName VAR_007427 VAR_007427 disease not phenotype-associated VAR_007428 commonName VAR_007428 VAR_007428 disease phenotype-associated VAR_007428 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700] VAR_007429 commonName VAR_007429 VAR_007429 disease phenotype-associated VAR_007429 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700] VAR_007430 commonName VAR_007430 VAR_007430 disease phenotype-associated VAR_007430 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700] VAR_007431 commonName VAR_007431 VAR_007431 disease not phenotype-associated VAR_007434 commonName VAR_007434 VAR_007434 disease phenotype-associated VAR_007434 phenoCommon Atelosteogenesis type 2 (AO2) [MIM:256050] VAR_007435 commonName VAR_007435 VAR_007435 disease phenotype-associated VAR_007435 phenoCommon Atelosteogenesis type 2 (AO2) [MIM:256050] VAR_007435 phenoCommon Multiple epiphyseal dysplasia type 4 (EDM4) [MIM:226900] VAR_007437 commonName VAR_007437 VAR_007437 disease phenotype-associated VAR_007437 phenoCommon Achondrogenesis type 1B (ACG1B) [MIM:600972] VAR_007438 commonName VAR_007438 VAR_007438 disease phenotype-associated VAR_007438 phenoCommon Achondrogenesis type 1B (ACG1B) [MIM:600972] VAR_007439 commonName VAR_007439 VAR_007439 disease phenotype-associated VAR_007439 phenoCommon Atelosteogenesis type 2 (AO2) [MIM:256050] VAR_007439 phenoCommon Multiple epiphyseal dysplasia type 4 (EDM4) [MIM:226900] VAR_007440 commonName VAR_007440 VAR_007440 disease phenotype-associated VAR_007440 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] VAR_007440 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_007441 commonName VAR_007441 VAR_007441 disease phenotype-associated VAR_007441 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] VAR_007441 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_007442 commonName VAR_007442 VAR_007442 disease phenotype-associated VAR_007442 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] VAR_007443 commonName VAR_007443 VAR_007443 disease phenotype-associated VAR_007443 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] VAR_007444 commonName VAR_007444 VAR_007444 disease phenotype-associated VAR_007444 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_007445 commonName VAR_007445 VAR_007445 disease phenotype-associated VAR_007445 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] VAR_007445 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_007446 commonName VAR_007446 VAR_007446 disease phenotype-associated VAR_007446 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] VAR_007447 commonName VAR_007447 VAR_007447 disease phenotype-associated VAR_007447 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_007448 commonName VAR_007448 VAR_007448 disease phenotype-associated VAR_007448 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] VAR_007448 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_007449 commonName VAR_007449 VAR_007449 disease phenotype-associated VAR_007449 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] VAR_007449 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_007450 commonName VAR_007450 VAR_007450 disease phenotype-associated VAR_007450 phenoCommon Leigh syndrome (LS) [MIM:256000] VAR_007451 commonName VAR_007451 VAR_007451 disease not phenotype-associated VAR_007452 commonName VAR_007452 VAR_007452 disease phenotype-associated VAR_007452 phenoCommon Leigh syndrome (LS) [MIM:256000] VAR_007454 commonName VAR_007454 VAR_007454 disease phenotype-associated VAR_007454 phenoCommon Parkinson disease type 1 (PARK1) [MIM:168601] VAR_007455 commonName VAR_007455 VAR_007455 disease not phenotype-associated VAR_007456 commonName VAR_007456 VAR_007456 disease phenotype-associated VAR_007456 phenoCommon Holt-Oram syndrome (HOS) [MIM:142900] VAR_007457 comment Glioma VAR_007457 commonName VAR_007457 VAR_007458 comment Glioma VAR_007458 commonName VAR_007458 VAR_007459 comment Glioma VAR_007459 commonName VAR_007459 VAR_007460 comment Glioma VAR_007460 commonName VAR_007460 VAR_007461 commonName VAR_007461 VAR_007461 disease phenotype-associated VAR_007461 phenoCommon Cowden disease (CD) [MIM:158350] VAR_007462 commonName VAR_007462 VAR_007462 disease phenotype-associated VAR_007462 phenoCommon Bannayan-Zonana syndrome (BZS) [MIM:153480] VAR_007462 phenoCommon Cowden disease (CD) [MIM:158350] VAR_007463 commonName VAR_007463 VAR_007463 disease phenotype-associated VAR_007463 phenoCommon Cowden disease (CD) [MIM:158350] VAR_007464 commonName VAR_007464 VAR_007464 disease phenotype-associated VAR_007464 phenoCommon Cowden disease (CD) [MIM:158350] VAR_007465 commonName VAR_007465 VAR_007465 disease phenotype-associated VAR_007465 phenoCommon Cowden disease (CD) [MIM:158350] VAR_007466 comment Glioblastoma VAR_007466 commonName VAR_007466 VAR_007467 commonName VAR_007467 VAR_007467 disease phenotype-associated VAR_007467 phenoCommon Cowden disease (CD) [MIM:158350] VAR_007468 commonName VAR_007468 VAR_007468 disease phenotype-associated VAR_007468 phenoCommon Cowden disease (CD) [MIM:158350] VAR_007469 commonName VAR_007469 VAR_007469 disease phenotype-associated VAR_007469 phenoCommon Prostate cancer (PC) [MIM:176807] VAR_007470 commonName VAR_007470 VAR_007470 disease phenotype-associated VAR_007470 phenoCommon Bannayan-Zonana syndrome (BZS) [MIM:153480] VAR_007471 commonName VAR_007471 VAR_007471 disease not phenotype-associated VAR_007472 commonName VAR_007472 VAR_007472 disease not phenotype-associated VAR_007473 commonName VAR_007473 VAR_007473 disease not phenotype-associated VAR_007474 commonName VAR_007474 VAR_007474 disease phenotype-associated VAR_007474 phenoCommon Factor XIII subunit A deficiency (FA13AD) [MIM:613225] VAR_007475 commonName VAR_007475 VAR_007475 disease phenotype-associated VAR_007475 phenoCommon Factor XIII subunit B deficiency (FA13BD) [MIM:613235] VAR_007476 commonName VAR_007476 VAR_007476 disease phenotype-associated VAR_007476 phenoCommon Ichthyosis lamellar type 1 (LI1) [MIM:242300] VAR_007477 commonName VAR_007477 VAR_007477 disease phenotype-associated VAR_007477 phenoCommon Ichthyosis lamellar type 1 (LI1) [MIM:242300] VAR_007477 phenoCommon Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100] VAR_007478 commonName VAR_007478 VAR_007478 disease phenotype-associated VAR_007478 phenoCommon Ichthyosis lamellar type 1 (LI1) [MIM:242300] VAR_007479 commonName VAR_007479 VAR_007479 disease phenotype-associated VAR_007479 phenoCommon Ichthyosis lamellar type 1 (LI1) [MIM:242300] VAR_007480 commonName VAR_007480 VAR_007480 disease phenotype-associated VAR_007480 phenoCommon Ichthyosis lamellar type 1 (LI1) [MIM:242300] VAR_007480 phenoCommon Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100] VAR_007481 commonName VAR_007481 VAR_007481 disease phenotype-associated VAR_007481 phenoCommon Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100] VAR_007482 commonName VAR_007482 VAR_007482 disease phenotype-associated VAR_007482 phenoCommon Spherocytosis type 5 (SPH5) [MIM:612690] VAR_007483 commonName VAR_007483 VAR_007483 disease phenotype-associated VAR_007483 phenoCommon Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550] VAR_007484 commonName VAR_007484 VAR_007484 disease not phenotype-associated VAR_007485 commonName VAR_007485 VAR_007485 disease phenotype-associated VAR_007485 phenoCommon Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550] VAR_007486 commonName VAR_007486 VAR_007486 disease phenotype-associated VAR_007486 phenoCommon Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550] VAR_007487 commonName VAR_007487 VAR_007487 disease phenotype-associated VAR_007487 phenoCommon Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550] VAR_007488 commonName VAR_007488 VAR_007488 disease phenotype-associated VAR_007488 phenoCommon Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550] VAR_007489 commonName VAR_007489 VAR_007489 disease not phenotype-associated VAR_007490 commonName VAR_007490 VAR_007490 disease phenotype-associated VAR_007490 phenoCommon Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550] VAR_007491 commonName VAR_007491 VAR_007491 disease not phenotype-associated VAR_007492 commonName VAR_007492 VAR_007492 disease phenotype-associated VAR_007492 phenoCommon Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550] VAR_007493 commonName VAR_007493 VAR_007493 disease phenotype-associated VAR_007493 phenoCommon Trifunctional protein deficiency (TFP deficiency) [MIM:609015] VAR_007494 commonName VAR_007494 VAR_007494 disease phenotype-associated VAR_007494 phenoCommon Trifunctional protein deficiency (TFP deficiency) [MIM:609015] VAR_007495 commonName VAR_007495 VAR_007495 disease phenotype-associated VAR_007495 phenoCommon Trifunctional protein deficiency (TFP deficiency) [MIM:609015] VAR_007496 commonName VAR_007496 VAR_007496 disease not phenotype-associated VAR_007498 commonName VAR_007498 VAR_007498 disease phenotype-associated VAR_007498 phenoCommon 3-ketothiolase deficiency (3KTD) [MIM:203750] VAR_007499 commonName VAR_007499 VAR_007499 disease phenotype-associated VAR_007499 phenoCommon 3-ketothiolase deficiency (3KTD) [MIM:203750] VAR_007500 commonName VAR_007500 VAR_007500 disease phenotype-associated VAR_007500 phenoCommon 3-ketothiolase deficiency (3KTD) [MIM:203750] VAR_007501 commonName VAR_007501 VAR_007501 disease phenotype-associated VAR_007501 phenoCommon 3-ketothiolase deficiency (3KTD) [MIM:203750] VAR_007502 commonName VAR_007502 VAR_007502 disease phenotype-associated VAR_007502 phenoCommon 3-ketothiolase deficiency (3KTD) [MIM:203750] VAR_007503 commonName VAR_007503 VAR_007503 disease phenotype-associated VAR_007503 phenoCommon 3-ketothiolase deficiency (3KTD) [MIM:203750] VAR_007504 commonName VAR_007504 VAR_007504 disease phenotype-associated VAR_007504 phenoCommon 3-ketothiolase deficiency (3KTD) [MIM:203750] VAR_007505 commonName VAR_007505 VAR_007505 disease phenotype-associated VAR_007505 phenoCommon 3-ketothiolase deficiency (3KTD) [MIM:203750] VAR_007506 commonName VAR_007506 VAR_007506 disease phenotype-associated VAR_007506 phenoCommon 3-ketothiolase deficiency (3KTD) [MIM:203750] VAR_007507 commonName VAR_007507 VAR_007507 disease phenotype-associated VAR_007507 phenoCommon 3-ketothiolase deficiency (3KTD) [MIM:203750] VAR_007508 commonName VAR_007508 VAR_007508 disease phenotype-associated VAR_007508 phenoCommon Sorsby fundus dystrophy (SFD) [MIM:136900] VAR_007509 commonName VAR_007509 VAR_007509 disease phenotype-associated VAR_007509 phenoCommon Sorsby fundus dystrophy (SFD) [MIM:136900] VAR_007510 commonName VAR_007510 VAR_007510 disease phenotype-associated VAR_007510 phenoCommon Sorsby fundus dystrophy (SFD) [MIM:136900] VAR_007513 commonName VAR_007513 VAR_007513 disease phenotype-associated VAR_007513 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] VAR_007514 commonName VAR_007514 VAR_007514 disease phenotype-associated VAR_007514 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] VAR_007515 commonName VAR_007515 VAR_007515 disease phenotype-associated VAR_007515 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] VAR_007517 commonName VAR_007517 VAR_007517 disease phenotype-associated VAR_007517 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] VAR_007518 commonName VAR_007518 VAR_007518 disease phenotype-associated VAR_007518 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] VAR_007519 commonName VAR_007519 VAR_007519 disease phenotype-associated VAR_007519 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] VAR_007520 commonName VAR_007520 VAR_007520 disease phenotype-associated VAR_007520 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] VAR_007521 commonName VAR_007521 VAR_007521 disease phenotype-associated VAR_007521 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] VAR_007522 commonName VAR_007522 VAR_007522 disease phenotype-associated VAR_007522 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] VAR_007523 commonName VAR_007523 VAR_007523 disease not phenotype-associated VAR_007524 commonName VAR_007524 VAR_007524 disease phenotype-associated VAR_007524 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] VAR_007526 commonName VAR_007526 VAR_007526 disease phenotype-associated VAR_007526 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] VAR_007527 commonName VAR_007527 VAR_007527 disease phenotype-associated VAR_007527 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] VAR_007528 commonName VAR_007528 VAR_007528 disease phenotype-associated VAR_007528 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] VAR_007530 comment CPT-resistant leukemia VAR_007530 commonName VAR_007530 VAR_007531 comment CPT-resistant lung cancer VAR_007531 commonName VAR_007531 VAR_007532 commonName VAR_007532 VAR_007533 commonName VAR_007533 VAR_007534 commonName VAR_007534 VAR_007534 disease phenotype-associated VAR_007534 phenoCommon Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450] VAR_007535 commonName VAR_007535 VAR_007535 disease phenotype-associated VAR_007535 phenoCommon Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450] VAR_007536 commonName VAR_007536 VAR_007536 disease phenotype-associated VAR_007536 phenoCommon Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450] VAR_007537 commonName VAR_007537 VAR_007542 commonName VAR_007542 VAR_007542 disease not phenotype-associated VAR_007543 commonName VAR_007543 VAR_007543 disease phenotype-associated VAR_007543 phenoCommon Adrenoleukodystrophy neonatal (NALD) [MIM:202370] VAR_007544 commonName VAR_007544 VAR_007544 disease not phenotype-associated VAR_007545 commonName VAR_007545 VAR_007545 disease not phenotype-associated VAR_007546 commonName VAR_007546 VAR_007546 disease not phenotype-associated VAR_007547 commonName VAR_007547 VAR_007547 disease phenotype-associated VAR_007547 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007548 commonName VAR_007548 VAR_007548 disease phenotype-associated VAR_007548 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007549 commonName VAR_007549 VAR_007549 disease phenotype-associated VAR_007549 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007550 commonName VAR_007550 VAR_007550 disease phenotype-associated VAR_007550 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007551 commonName VAR_007551 VAR_007551 disease phenotype-associated VAR_007551 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007552 commonName VAR_007552 VAR_007552 disease phenotype-associated VAR_007552 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007553 commonName VAR_007553 VAR_007553 disease phenotype-associated VAR_007553 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007554 commonName VAR_007554 VAR_007554 disease phenotype-associated VAR_007554 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007555 commonName VAR_007555 VAR_007555 disease phenotype-associated VAR_007555 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007556 commonName VAR_007556 VAR_007556 disease phenotype-associated VAR_007556 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007557 commonName VAR_007557 VAR_007557 disease phenotype-associated VAR_007557 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007558 commonName VAR_007558 VAR_007558 disease phenotype-associated VAR_007558 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007559 commonName VAR_007559 VAR_007559 disease phenotype-associated VAR_007559 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007560 commonName VAR_007560 VAR_007560 disease phenotype-associated VAR_007560 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007561 commonName VAR_007561 VAR_007561 disease phenotype-associated VAR_007561 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007562 commonName VAR_007562 VAR_007562 disease phenotype-associated VAR_007562 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007563 commonName VAR_007563 VAR_007563 disease phenotype-associated VAR_007563 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007564 commonName VAR_007564 VAR_007564 disease phenotype-associated VAR_007564 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007565 commonName VAR_007565 VAR_007565 disease phenotype-associated VAR_007565 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007566 commonName VAR_007566 VAR_007566 disease phenotype-associated VAR_007566 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007567 commonName VAR_007567 VAR_007567 disease phenotype-associated VAR_007567 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007568 commonName VAR_007568 VAR_007568 disease phenotype-associated VAR_007568 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007569 commonName VAR_007569 VAR_007569 disease phenotype-associated VAR_007569 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007570 commonName VAR_007570 VAR_007570 disease phenotype-associated VAR_007570 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007571 commonName VAR_007571 VAR_007571 disease phenotype-associated VAR_007571 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007572 commonName VAR_007572 VAR_007572 disease phenotype-associated VAR_007572 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007573 commonName VAR_007573 VAR_007573 disease phenotype-associated VAR_007573 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007574 commonName VAR_007574 VAR_007574 disease phenotype-associated VAR_007574 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007575 commonName VAR_007575 VAR_007575 disease phenotype-associated VAR_007575 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007576 commonName VAR_007576 VAR_007576 disease phenotype-associated VAR_007576 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007577 commonName VAR_007577 VAR_007577 disease phenotype-associated VAR_007577 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007578 commonName VAR_007578 VAR_007578 disease phenotype-associated VAR_007578 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007579 commonName VAR_007579 VAR_007579 disease phenotype-associated VAR_007579 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007580 commonName VAR_007580 VAR_007580 disease phenotype-associated VAR_007580 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007581 commonName VAR_007581 VAR_007581 disease not phenotype-associated VAR_007582 commonName VAR_007582 VAR_007582 disease phenotype-associated VAR_007582 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007583 commonName VAR_007583 VAR_007583 disease phenotype-associated VAR_007583 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007584 commonName VAR_007584 VAR_007584 disease phenotype-associated VAR_007584 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007585 commonName VAR_007585 VAR_007585 disease phenotype-associated VAR_007585 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007586 commonName VAR_007586 VAR_007586 disease not phenotype-associated VAR_007587 commonName VAR_007587 VAR_007587 disease phenotype-associated VAR_007587 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007588 commonName VAR_007588 VAR_007588 disease phenotype-associated VAR_007588 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007589 commonName VAR_007589 VAR_007589 disease not phenotype-associated VAR_007590 commonName VAR_007590 VAR_007590 disease not phenotype-associated VAR_007591 commonName VAR_007591 VAR_007591 disease not phenotype-associated VAR_007592 commonName VAR_007592 VAR_007592 disease phenotype-associated VAR_007592 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007593 commonName VAR_007593 VAR_007593 disease phenotype-associated VAR_007593 phenoCommon Hyperthyroxinemia dystransthyretinemic euthyroidal (HTDE) [MIM:145680] VAR_007594 commonName VAR_007594 VAR_007594 disease phenotype-associated VAR_007594 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007595 commonName VAR_007595 VAR_007595 disease phenotype-associated VAR_007595 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007596 commonName VAR_007596 VAR_007596 disease phenotype-associated VAR_007596 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007597 commonName VAR_007597 VAR_007598 commonName VAR_007598 VAR_007598 disease phenotype-associated VAR_007598 phenoCommon Carpal tunnel syndrome type 1 (CTS1) [MIM:115430] VAR_007599 commonName VAR_007599 VAR_007599 disease not phenotype-associated VAR_007600 commonName VAR_007600 VAR_007600 disease phenotype-associated VAR_007600 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_007601 commonName VAR_007601 VAR_007601 disease phenotype-associated VAR_007601 phenoCommon Familial hypertrophic cardiomyopathy type 3 (CMH3) [MIM:115196] VAR_007602 commonName VAR_007602 VAR_007602 disease phenotype-associated VAR_007602 phenoCommon Familial hypertrophic cardiomyopathy type 3 (CMH3) [MIM:115196] VAR_007603 commonName VAR_007603 VAR_007603 disease phenotype-associated VAR_007603 phenoCommon Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690] VAR_007604 commonName VAR_007604 VAR_007604 disease phenotype-associated VAR_007604 phenoCommon Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690] VAR_007614 commonName VAR_007614 VAR_007614 disease phenotype-associated VAR_007614 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170] VAR_007615 commonName VAR_007615 VAR_007615 disease phenotype-associated VAR_007615 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170] VAR_007616 commonName VAR_007616 VAR_007616 disease phenotype-associated VAR_007616 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170] VAR_007617 commonName VAR_007617 VAR_007617 disease phenotype-associated VAR_007617 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] VAR_007618 commonName VAR_007618 VAR_007618 disease phenotype-associated VAR_007618 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170] VAR_007619 commonName VAR_007619 VAR_007619 disease phenotype-associated VAR_007619 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] VAR_007620 commonName VAR_007620 VAR_007620 disease phenotype-associated VAR_007620 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] VAR_007622 commonName VAR_007622 VAR_007622 disease phenotype-associated VAR_007622 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] VAR_007625 commonName VAR_007625 VAR_007625 disease phenotype-associated VAR_007625 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170] VAR_007627 commonName VAR_007627 VAR_007627 disease phenotype-associated VAR_007627 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] VAR_007628 commonName VAR_007628 VAR_007628 disease phenotype-associated VAR_007628 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170] VAR_007629 commonName VAR_007629 VAR_007629 disease phenotype-associated VAR_007629 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170] VAR_007630 commonName VAR_007630 VAR_007630 disease phenotype-associated VAR_007630 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] VAR_007632 commonName VAR_007632 VAR_007632 disease phenotype-associated VAR_007632 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170] VAR_007634 commonName VAR_007634 VAR_007634 disease phenotype-associated VAR_007634 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170] VAR_007635 commonName VAR_007635 VAR_007635 disease phenotype-associated VAR_007635 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170] VAR_007637 commonName VAR_007637 VAR_007637 disease phenotype-associated VAR_007637 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170] VAR_007639 commonName VAR_007639 VAR_007639 disease phenotype-associated VAR_007639 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170] VAR_007640 commonName VAR_007640 VAR_007640 disease phenotype-associated VAR_007640 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] VAR_007641 commonName VAR_007641 VAR_007641 disease phenotype-associated VAR_007641 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170] VAR_007642 commonName VAR_007642 VAR_007642 disease phenotype-associated VAR_007642 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] VAR_007642 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170] VAR_007643 commonName VAR_007643 VAR_007643 disease phenotype-associated VAR_007643 phenoCommon Mitochondrial DNA depletion syndrome type 1 (MTDPS1) [MIM:603041] VAR_007644 commonName VAR_007644 VAR_007644 disease phenotype-associated VAR_007644 phenoCommon Mitochondrial DNA depletion syndrome type 1 (MTDPS1) [MIM:603041] VAR_007645 commonName VAR_007645 VAR_007645 disease phenotype-associated VAR_007645 phenoCommon Mitochondrial DNA depletion syndrome type 1 (MTDPS1) [MIM:603041] VAR_007646 commonName VAR_007646 VAR_007646 disease phenotype-associated VAR_007646 phenoCommon Mitochondrial DNA depletion syndrome type 1 (MTDPS1) [MIM:603041] VAR_007648 commonName VAR_007648 VAR_007648 disease not phenotype-associated VAR_007649 commonName VAR_007649 VAR_007649 disease phenotype-associated VAR_007649 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007650 commonName VAR_007650 VAR_007650 disease phenotype-associated VAR_007650 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007651 commonName VAR_007651 VAR_007651 disease phenotype-associated VAR_007651 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007652 commonName VAR_007652 VAR_007652 disease phenotype-associated VAR_007652 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007653 commonName VAR_007653 VAR_007654 commonName VAR_007654 VAR_007654 disease phenotype-associated VAR_007654 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007655 commonName VAR_007655 VAR_007655 disease phenotype-associated VAR_007655 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007656 commonName VAR_007656 VAR_007656 disease phenotype-associated VAR_007656 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007657 commonName VAR_007657 VAR_007657 disease phenotype-associated VAR_007657 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007658 commonName VAR_007658 VAR_007658 disease phenotype-associated VAR_007658 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007659 commonName VAR_007659 VAR_007659 disease phenotype-associated VAR_007659 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007660 commonName VAR_007660 VAR_007660 disease phenotype-associated VAR_007660 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007661 commonName VAR_007661 VAR_007661 disease phenotype-associated VAR_007661 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007662 commonName VAR_007662 VAR_007662 disease not phenotype-associated VAR_007663 commonName VAR_007663 VAR_007663 disease phenotype-associated VAR_007663 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007664 commonName VAR_007664 VAR_007664 disease phenotype-associated VAR_007664 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007665 commonName VAR_007665 VAR_007665 disease phenotype-associated VAR_007665 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007666 commonName VAR_007666 VAR_007666 disease phenotype-associated VAR_007666 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007667 commonName VAR_007667 VAR_007667 disease phenotype-associated VAR_007667 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007668 commonName VAR_007668 VAR_007668 disease phenotype-associated VAR_007668 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007669 commonName VAR_007669 VAR_007669 disease phenotype-associated VAR_007669 phenoCommon Albinism oculocutaneous type 1B (OCA1B) [MIM:606952] VAR_007670 commonName VAR_007670 VAR_007670 disease phenotype-associated VAR_007670 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007671 commonName VAR_007671 VAR_007671 disease phenotype-associated VAR_007671 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007672 commonName VAR_007672 VAR_007672 disease phenotype-associated VAR_007672 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007673 commonName VAR_007673 VAR_007674 commonName VAR_007674 VAR_007675 commonName VAR_007675 VAR_007675 disease phenotype-associated VAR_007675 phenoCommon Albinism oculocutaneous type 1B (OCA1B) [MIM:606952] VAR_007676 commonName VAR_007676 VAR_007676 disease phenotype-associated VAR_007676 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007677 commonName VAR_007677 VAR_007678 commonName VAR_007678 VAR_007678 disease phenotype-associated VAR_007678 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007679 commonName VAR_007679 VAR_007679 disease phenotype-associated VAR_007679 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007680 commonName VAR_007680 VAR_007680 disease phenotype-associated VAR_007680 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007681 commonName VAR_007681 VAR_007681 disease phenotype-associated VAR_007681 phenoCommon Albinism oculocutaneous type 1B (OCA1B) [MIM:606952] VAR_007682 commonName VAR_007682 VAR_007682 disease phenotype-associated VAR_007682 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007683 commonName VAR_007683 VAR_007683 disease phenotype-associated VAR_007683 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007684 commonName VAR_007684 VAR_007684 disease phenotype-associated VAR_007684 phenoCommon Albinism oculocutaneous type 1B (OCA1B) [MIM:606952] VAR_007685 commonName VAR_007685 VAR_007685 disease phenotype-associated VAR_007685 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007686 commonName VAR_007686 VAR_007686 disease not phenotype-associated VAR_007687 commonName VAR_007687 VAR_007687 disease phenotype-associated VAR_007687 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007687 phenoCommon Albinism oculocutaneous type 1B (OCA1B) [MIM:606952] VAR_007688 commonName VAR_007688 VAR_007689 commonName VAR_007689 VAR_007689 disease phenotype-associated VAR_007689 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007689 phenoCommon Albinism oculocutaneous type 1B (OCA1B) [MIM:606952] VAR_007690 commonName VAR_007690 VAR_007690 disease phenotype-associated VAR_007690 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007691 commonName VAR_007691 VAR_007691 disease phenotype-associated VAR_007691 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007691 phenoCommon Albinism oculocutaneous type 1B (OCA1B) [MIM:606952] VAR_007692 commonName VAR_007692 VAR_007692 disease phenotype-associated VAR_007692 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007693 commonName VAR_007693 VAR_007693 disease phenotype-associated VAR_007693 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007694 commonName VAR_007694 VAR_007694 disease not phenotype-associated VAR_007697 commonName VAR_007697 VAR_007697 disease phenotype-associated VAR_007697 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] VAR_007698 commonName VAR_007698 VAR_007698 disease phenotype-associated VAR_007698 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] VAR_007699 commonName VAR_007699 VAR_007699 disease phenotype-associated VAR_007699 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] VAR_007700 commonName VAR_007700 VAR_007700 disease phenotype-associated VAR_007700 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] VAR_007701 commonName VAR_007701 VAR_007701 disease phenotype-associated VAR_007701 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] VAR_007702 commonName VAR_007702 VAR_007702 disease phenotype-associated VAR_007702 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] VAR_007703 commonName VAR_007703 VAR_007703 disease phenotype-associated VAR_007703 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] VAR_007704 commonName VAR_007704 VAR_007704 disease phenotype-associated VAR_007704 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] VAR_007705 commonName VAR_007705 VAR_007705 disease phenotype-associated VAR_007705 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] VAR_007706 commonName VAR_007706 VAR_007706 disease phenotype-associated VAR_007706 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] VAR_007707 commonName VAR_007707 VAR_007707 disease phenotype-associated VAR_007707 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] VAR_007708 commonName VAR_007708 VAR_007708 disease phenotype-associated VAR_007708 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] VAR_007709 commonName VAR_007709 VAR_007709 disease phenotype-associated VAR_007709 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] VAR_007709 phenoCommon Gilbert syndrome (GILBS) [MIM:143500] VAR_007709 phenoCommon Transient familial neonatal hyperbilirubinemia (TNHBB) [MIM:237900] VAR_007710 commonName VAR_007710 VAR_007710 disease phenotype-associated VAR_007710 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] VAR_007711 commonName VAR_007711 VAR_007711 disease phenotype-associated VAR_007711 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] VAR_007713 commonName VAR_007713 VAR_007713 disease not phenotype-associated VAR_007714 commonName VAR_007714 VAR_007714 disease phenotype-associated VAR_007714 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100] VAR_007714 phenoCommon Hepatoerythropoietic porphyria (HEP) [MIM:176100] VAR_007715 commonName VAR_007715 VAR_007715 disease phenotype-associated VAR_007715 phenoCommon Hepatoerythropoietic porphyria (HEP) [MIM:176100] VAR_007716 commonName VAR_007716 VAR_007716 disease phenotype-associated VAR_007716 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100] VAR_007717 commonName VAR_007717 VAR_007717 disease phenotype-associated VAR_007717 phenoCommon Hepatoerythropoietic porphyria (HEP) [MIM:176100] VAR_007718 commonName VAR_007718 VAR_007718 disease phenotype-associated VAR_007718 phenoCommon Amyloidosis type 5 (AMYL5) [MIM:105120] VAR_007719 commonName VAR_007719 VAR_007719 disease phenotype-associated VAR_007719 phenoCommon Amyloidosis type 5 (AMYL5) [MIM:105120] VAR_007720 commonName VAR_007720 VAR_007720 disease phenotype-associated VAR_007720 phenoCommon Kallmann syndrome type 1 (KAL1) [MIM:308700] VAR_007721 commonName VAR_007721 VAR_007721 disease not phenotype-associated VAR_007724 commonName VAR_007724 VAR_007724 disease phenotype-associated VAR_007724 phenoCommon Lissencephaly type 1 (LIS1) [MIM:607432] VAR_007725 commonName VAR_007725 VAR_007726 commonName VAR_007726 VAR_007726 disease phenotype-associated VAR_007726 phenoCommon Rhizomelic chondrodysplasia punctata type 1 (RCDP1) [MIM:215100] VAR_007727 commonName VAR_007727 VAR_007727 disease phenotype-associated VAR_007727 phenoCommon Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700] VAR_007728 commonName VAR_007728 VAR_007728 disease phenotype-associated VAR_007728 phenoCommon Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700] VAR_007729 commonName VAR_007729 VAR_007729 disease phenotype-associated VAR_007729 phenoCommon Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700] VAR_007730 commonName VAR_007730 VAR_007730 disease phenotype-associated VAR_007730 phenoCommon Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700] VAR_007731 commonName VAR_007731 VAR_007731 disease phenotype-associated VAR_007731 phenoCommon Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700] VAR_007732 commonName VAR_007732 VAR_007732 disease not phenotype-associated VAR_007735 commonName VAR_007735 VAR_007735 disease phenotype-associated VAR_007735 phenoCommon Congenital hypomyelination neuropathy (CHN) [MIM:605253] VAR_007736 commonName VAR_007736 VAR_007736 disease phenotype-associated VAR_007736 phenoCommon Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678] VAR_007738 commonName VAR_007738 VAR_007738 disease phenotype-associated VAR_007738 phenoCommon Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678] VAR_007753 commonName VAR_007753 VAR_007753 disease phenotype-associated VAR_007753 phenoCommon Visceral heterotaxy X-linked type 1 (HTX1) [MIM:306955] VAR_007754 commonName VAR_007754 VAR_007755 commonName VAR_007755 VAR_007756 commonName VAR_007756 VAR_007756 disease phenotype-associated VAR_007756 phenoCommon Breast cancer (BC) [MIM:114480] VAR_007757 commonName VAR_007757 VAR_007757 disease phenotype-associated VAR_007757 phenoCommon Breast cancer (BC) [MIM:114480] VAR_007757 phenoCommon Ovarian cancer (OC) [MIM:167000] VAR_007758 commonName VAR_007758 VAR_007758 disease phenotype-associated VAR_007758 phenoCommon Breast cancer (BC) [MIM:114480] VAR_007759 commonName VAR_007759 VAR_007759 disease not phenotype-associated VAR_007760 commonName VAR_007760 VAR_007760 disease not phenotype-associated VAR_007761 commonName VAR_007761 VAR_007761 disease phenotype-associated VAR_007761 phenoCommon Breast cancer (BC) [MIM:114480] VAR_007762 commonName VAR_007762 VAR_007762 disease not phenotype-associated VAR_007764 commonName VAR_007764 VAR_007764 disease not phenotype-associated VAR_007765 commonName VAR_007765 VAR_007765 disease phenotype-associated VAR_007765 phenoCommon Breast cancer (BC) [MIM:114480] VAR_007766 commonName VAR_007766 VAR_007766 disease phenotype-associated VAR_007766 phenoCommon Breast cancer (BC) [MIM:114480] VAR_007767 commonName VAR_007767 VAR_007768 commonName VAR_007768 VAR_007768 disease phenotype-associated VAR_007768 phenoCommon Breast cancer (BC) [MIM:114480] VAR_007769 commonName VAR_007769 VAR_007769 disease not phenotype-associated VAR_007770 commonName VAR_007770 VAR_007770 disease not phenotype-associated VAR_007771 commonName VAR_007771 VAR_007771 disease not phenotype-associated VAR_007772 commonName VAR_007772 VAR_007772 disease phenotype-associated VAR_007772 phenoCommon Breast cancer (BC) [MIM:114480] VAR_007773 commonName VAR_007773 VAR_007774 commonName VAR_007774 VAR_007774 disease not phenotype-associated VAR_007775 commonName VAR_007775 VAR_007775 disease phenotype-associated VAR_007775 phenoCommon Breast cancer (BC) [MIM:114480] VAR_007776 commonName VAR_007776 VAR_007776 disease phenotype-associated VAR_007776 phenoCommon Breast cancer (BC) [MIM:114480] VAR_007777 commonName VAR_007777 VAR_007777 disease not phenotype-associated VAR_007778 commonName VAR_007778 VAR_007778 disease phenotype-associated VAR_007778 phenoCommon Breast cancer (BC) [MIM:114480] VAR_007779 commonName VAR_007779 VAR_007779 disease not phenotype-associated VAR_007780 commonName VAR_007780 VAR_007780 disease not phenotype-associated VAR_007781 commonName VAR_007781 VAR_007781 disease phenotype-associated VAR_007781 phenoCommon Breast cancer (BC) [MIM:114480] VAR_007800 commonName VAR_007800 VAR_007800 disease not phenotype-associated VAR_007801 commonName VAR_007801 VAR_007801 disease not phenotype-associated VAR_007802 commonName VAR_007802 VAR_007802 disease not phenotype-associated VAR_007803 commonName VAR_007803 VAR_007803 disease phenotype-associated VAR_007803 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457] VAR_007804 commonName VAR_007804 VAR_007804 disease phenotype-associated VAR_007804 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457] VAR_007805 commonName VAR_007805 VAR_007805 disease phenotype-associated VAR_007805 phenoCommon Adrenoleukodystrophy neonatal (NALD) [MIM:202370] VAR_007806 commonName VAR_007806 VAR_007806 disease not phenotype-associated VAR_007807 commonName VAR_007807 VAR_007807 disease phenotype-associated VAR_007807 phenoCommon Cowden disease (CD) [MIM:158350] VAR_007807 phenoCommon Lhermitte-Duclos disease (LDD) [MIM:158350] VAR_007808 commonName VAR_007808 VAR_007808 disease phenotype-associated VAR_007808 phenoCommon Cowden disease (CD) [MIM:158350] VAR_007809 comment A T-cell acute lymphoblastic leukemia cell line VAR_007809 commonName VAR_007809 VAR_007810 commonName VAR_007810 VAR_007810 disease not phenotype-associated VAR_007811 commonName VAR_007811 VAR_007811 disease not phenotype-associated VAR_007812 commonName VAR_007812 VAR_007812 disease not phenotype-associated VAR_007813 commonName VAR_007813 VAR_007813 disease not phenotype-associated VAR_007814 commonName VAR_007814 VAR_007814 disease not phenotype-associated VAR_007815 commonName VAR_007815 VAR_007815 disease phenotype-associated VAR_007815 phenoCommon Iridogoniodysgenesis anomaly (IGDA) [MIM:601631] VAR_007815 phenoCommon Peters anomaly (PAN) [MIM:604229] VAR_007816 commonName VAR_007816 VAR_007817 commonName VAR_007817 VAR_007818 commonName VAR_007818 VAR_007818 disease not phenotype-associated VAR_007819 commonName VAR_007819 VAR_007819 disease phenotype-associated VAR_007819 phenoCommon Lissencephaly X-linked type 1 (LISX1) [MIM:300067] VAR_007820 commonName VAR_007820 VAR_007820 disease phenotype-associated VAR_007820 phenoCommon Lissencephaly X-linked type 1 (LISX1) [MIM:300067] VAR_007820 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067] VAR_007821 commonName VAR_007821 VAR_007821 disease phenotype-associated VAR_007821 phenoCommon Lissencephaly X-linked type 1 (LISX1) [MIM:300067] VAR_007821 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067] VAR_007822 commonName VAR_007822 VAR_007822 disease phenotype-associated VAR_007822 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067] VAR_007823 commonName VAR_007823 VAR_007823 disease phenotype-associated VAR_007823 phenoCommon Lissencephaly X-linked type 1 (LISX1) [MIM:300067] VAR_007823 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067] VAR_007824 commonName VAR_007824 VAR_007824 disease phenotype-associated VAR_007824 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067] VAR_007825 commonName VAR_007825 VAR_007825 disease phenotype-associated VAR_007825 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067] VAR_007826 commonName VAR_007826 VAR_007826 disease phenotype-associated VAR_007826 phenoCommon Lissencephaly X-linked type 1 (LISX1) [MIM:300067] VAR_007826 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067] VAR_007827 commonName VAR_007827 VAR_007827 disease phenotype-associated VAR_007827 phenoCommon Lissencephaly X-linked type 1 (LISX1) [MIM:300067] VAR_007828 commonName VAR_007828 VAR_007828 disease phenotype-associated VAR_007828 phenoCommon Lissencephaly X-linked type 1 (LISX1) [MIM:300067] VAR_007828 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067] VAR_007829 commonName VAR_007829 VAR_007829 disease phenotype-associated VAR_007829 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067] VAR_007830 commonName VAR_007830 VAR_007830 disease phenotype-associated VAR_007830 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067] VAR_007831 commonName VAR_007831 VAR_007831 disease phenotype-associated VAR_007831 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067] VAR_007832 commonName VAR_007832 VAR_007832 disease phenotype-associated VAR_007832 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067] VAR_007833 commonName VAR_007833 VAR_007833 disease phenotype-associated VAR_007833 phenoCommon Lissencephaly X-linked type 1 (LISX1) [MIM:300067] VAR_007833 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067] VAR_007834 commonName VAR_007834 VAR_007834 disease phenotype-associated VAR_007834 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067] VAR_007835 commonName VAR_007835 VAR_007835 disease phenotype-associated VAR_007835 phenoCommon Lissencephaly X-linked type 1 (LISX1) [MIM:300067] VAR_007835 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067] VAR_007836 commonName VAR_007836 VAR_007836 disease phenotype-associated VAR_007836 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067] VAR_007837 commonName VAR_007837 VAR_007837 disease phenotype-associated VAR_007837 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067] VAR_007838 commonName VAR_007838 VAR_007838 disease phenotype-associated VAR_007838 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067] VAR_007839 commonName VAR_007839 VAR_007839 disease phenotype-associated VAR_007839 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067] VAR_007840 commonName VAR_007840 VAR_007840 disease phenotype-associated VAR_007840 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067] VAR_007841 commonName VAR_007841 VAR_007841 disease phenotype-associated VAR_007841 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067] VAR_007842 commonName VAR_007842 VAR_007842 disease phenotype-associated VAR_007842 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067] VAR_007843 commonName VAR_007843 VAR_007843 disease phenotype-associated VAR_007843 phenoCommon Basal cell nevus syndrome (BCNS) [MIM:109400] VAR_007844 commonName VAR_007844 VAR_007844 disease phenotype-associated VAR_007844 phenoCommon Basal cell nevus syndrome (BCNS) [MIM:109400] VAR_007847 commonName VAR_007847 VAR_007847 disease phenotype-associated VAR_007847 phenoCommon Basal cell nevus syndrome (BCNS) [MIM:109400] VAR_007847 phenoCommon Sporadic basal cell carcinoma (BCC) [MIM:605462] VAR_007848 comment Basal cell carcinoma samples VAR_007848 commonName VAR_007848 VAR_007849 comment Basal cell carcinoma samples VAR_007849 commonName VAR_007849 VAR_007850 commonName VAR_007850 VAR_007850 disease phenotype-associated VAR_007850 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220] VAR_007851 commonName VAR_007851 VAR_007851 disease not phenotype-associated VAR_007852 commonName VAR_007852 VAR_007852 disease not phenotype-associated VAR_007853 commonName VAR_007853 VAR_007853 disease not phenotype-associated VAR_007854 commonName VAR_007854 VAR_007854 disease phenotype-associated VAR_007854 phenoCommon Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] VAR_007855 commonName VAR_007855 VAR_007855 disease not phenotype-associated VAR_007856 commonName VAR_007856 VAR_007856 disease not phenotype-associated VAR_007858 commonName VAR_007858 VAR_007858 disease phenotype-associated VAR_007858 phenoCommon Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460] VAR_007859 commonName VAR_007859 VAR_007860 commonName VAR_007860 VAR_007860 disease phenotype-associated VAR_007860 phenoCommon Glycogen storage disease type 0 (GSD0) [MIM:240600] VAR_007861 commonName VAR_007861 VAR_007861 disease phenotype-associated VAR_007861 phenoCommon Glycogen storage disease type 0 (GSD0) [MIM:240600] VAR_007862 commonName VAR_007862 VAR_007862 disease phenotype-associated VAR_007862 phenoCommon Glycogen storage disease type 0 (GSD0) [MIM:240600] VAR_007863 commonName VAR_007863 VAR_007863 disease phenotype-associated VAR_007863 phenoCommon Glycogen storage disease type 0 (GSD0) [MIM:240600] VAR_007864 commonName VAR_007864 VAR_007864 disease phenotype-associated VAR_007864 phenoCommon Glycogen storage disease type 0 (GSD0) [MIM:240600] VAR_007865 commonName VAR_007865 VAR_007865 disease phenotype-associated VAR_007865 phenoCommon Glycogen storage disease type 0 (GSD0) [MIM:240600] VAR_007866 commonName VAR_007866 VAR_007866 disease phenotype-associated VAR_007866 phenoCommon Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300] VAR_007867 commonName VAR_007867 VAR_007867 disease phenotype-associated VAR_007867 phenoCommon Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300] VAR_007868 commonName VAR_007868 VAR_007868 disease phenotype-associated VAR_007868 phenoCommon Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300] VAR_007873 commonName VAR_007873 VAR_007873 disease phenotype-associated VAR_007873 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] VAR_007874 commonName VAR_007874 VAR_007874 disease phenotype-associated VAR_007874 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] VAR_007875 commonName VAR_007875 VAR_007875 disease phenotype-associated VAR_007875 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] VAR_007876 commonName VAR_007876 VAR_007876 disease phenotype-associated VAR_007876 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] VAR_007877 commonName VAR_007877 VAR_007877 disease phenotype-associated VAR_007877 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] VAR_007878 commonName VAR_007878 VAR_007878 disease phenotype-associated VAR_007878 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] VAR_007880 commonName VAR_007880 VAR_007880 disease phenotype-associated VAR_007880 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] VAR_007881 commonName VAR_007881 VAR_007881 disease phenotype-associated VAR_007881 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] VAR_007882 commonName VAR_007882 VAR_007882 disease phenotype-associated VAR_007882 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] VAR_007883 commonName VAR_007883 VAR_007883 disease phenotype-associated VAR_007883 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] VAR_007884 commonName VAR_007884 VAR_007884 disease phenotype-associated VAR_007884 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] VAR_007899 commonName VAR_007899 VAR_007899 disease phenotype-associated VAR_007899 phenoCommon Myopathy myofibrillar type 2 (MFM2) [MIM:608810] VAR_007900 commonName VAR_007900 VAR_007900 disease phenotype-associated VAR_007900 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419] VAR_007901 commonName VAR_007901 VAR_007901 disease phenotype-associated VAR_007901 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419] VAR_007902 commonName VAR_007902 VAR_007902 disease phenotype-associated VAR_007902 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419] VAR_007904 commonName VAR_007904 VAR_007904 disease not phenotype-associated VAR_007905 commonName VAR_007905 VAR_007905 disease not phenotype-associated VAR_007906 commonName VAR_007906 VAR_007906 disease not phenotype-associated VAR_007907 commonName VAR_007907 VAR_007907 disease not phenotype-associated VAR_007908 commonName VAR_007908 VAR_007908 disease phenotype-associated VAR_007908 phenoCommon Glycogen storage disease type 6 (GSD6) [MIM:232700] VAR_007909 commonName VAR_007909 VAR_007909 disease phenotype-associated VAR_007909 phenoCommon Glycogen storage disease type 6 (GSD6) [MIM:232700] VAR_007910 commonName VAR_007910 VAR_007910 disease phenotype-associated VAR_007910 phenoCommon Hepatoerythropoietic porphyria (HEP) [MIM:176100] VAR_007911 commonName VAR_007911 VAR_007911 disease phenotype-associated VAR_007911 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100] VAR_007912 commonName VAR_007912 VAR_007912 disease phenotype-associated VAR_007912 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100] VAR_007913 commonName VAR_007913 VAR_007913 disease phenotype-associated VAR_007913 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100] VAR_007914 commonName VAR_007914 VAR_007914 disease phenotype-associated VAR_007914 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100] VAR_007915 commonName VAR_007915 VAR_007915 disease phenotype-associated VAR_007915 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100] VAR_007916 commonName VAR_007916 VAR_007916 disease phenotype-associated VAR_007916 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100] VAR_007917 commonName VAR_007917 VAR_007917 disease phenotype-associated VAR_007917 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100] VAR_007918 commonName VAR_007918 VAR_007918 disease phenotype-associated VAR_007918 phenoCommon Zellweger syndrome (ZWS) [MIM:214100] VAR_007919 commonName VAR_007919 VAR_007919 disease phenotype-associated VAR_007919 phenoCommon Zellweger syndrome (ZWS) [MIM:214100] VAR_007921 commonName VAR_007921 VAR_007921 disease phenotype-associated VAR_007921 phenoCommon Peutz-Jeghers syndrome (PJS) [MIM:175200] VAR_007922 commonName VAR_007922 VAR_007922 disease phenotype-associated VAR_007922 phenoCommon Peutz-Jeghers syndrome (PJS) [MIM:175200] VAR_007925 commonName VAR_007925 VAR_007925 disease phenotype-associated VAR_007925 phenoCommon Albinism oculocutaneous type 1B (OCA1B) [MIM:606952] VAR_007927 commonName VAR_007927 VAR_007927 disease phenotype-associated VAR_007927 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007928 commonName VAR_007928 VAR_007928 disease phenotype-associated VAR_007928 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007928 phenoCommon Albinism oculocutaneous type 1B (OCA1B) [MIM:606952] VAR_007929 commonName VAR_007929 VAR_007929 disease phenotype-associated VAR_007929 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007930 commonName VAR_007930 VAR_007930 disease phenotype-associated VAR_007930 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007931 commonName VAR_007931 VAR_007931 disease phenotype-associated VAR_007931 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007932 commonName VAR_007932 VAR_007932 disease phenotype-associated VAR_007932 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007933 commonName VAR_007933 VAR_007933 disease phenotype-associated VAR_007933 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007934 commonName VAR_007934 VAR_007934 disease phenotype-associated VAR_007934 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007935 commonName VAR_007935 VAR_007935 disease phenotype-associated VAR_007935 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007936 commonName VAR_007936 VAR_007936 disease phenotype-associated VAR_007936 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007937 commonName VAR_007937 VAR_007937 disease phenotype-associated VAR_007937 phenoCommon Albinism oculocutaneous type 1B (OCA1B) [MIM:606952] VAR_007938 commonName VAR_007938 VAR_007938 disease phenotype-associated VAR_007938 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_007939 commonName VAR_007939 VAR_007939 disease not phenotype-associated VAR_007940 commonName VAR_007940 VAR_007940 disease phenotype-associated VAR_007940 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_007941 commonName VAR_007941 VAR_007941 disease phenotype-associated VAR_007941 phenoCommon Retinitis pigmentosa type 14 (RP14) [MIM:600132] VAR_007942 commonName VAR_007942 VAR_007942 disease phenotype-associated VAR_007942 phenoCommon Retinitis pigmentosa type 14 (RP14) [MIM:600132] VAR_007944 commonName VAR_007944 VAR_007945 commonName VAR_007945 VAR_007946 commonName VAR_007946 VAR_007946 disease phenotype-associated VAR_007946 phenoCommon Retinitis pigmentosa (RP) [MIM:268000] VAR_007948 commonName VAR_007948 VAR_007948 disease not phenotype-associated VAR_007949 commonName VAR_007949 VAR_007949 disease phenotype-associated VAR_007949 phenoCommon Cone-rod dystrophy type 2 (CORD2) [MIM:120970] VAR_007951 commonName VAR_007951 VAR_007951 disease phenotype-associated VAR_007951 phenoCommon Non-ketotic hyperglycinemia (NKH) [MIM:605899] VAR_007952 commonName VAR_007952 VAR_007952 disease phenotype-associated VAR_007952 phenoCommon Non-ketotic hyperglycinemia (NKH) [MIM:605899] VAR_007953 commonName VAR_007953 VAR_007953 disease phenotype-associated VAR_007953 phenoCommon Non-ketotic hyperglycinemia (NKH) [MIM:605899] VAR_007954 commonName VAR_007954 VAR_007954 disease phenotype-associated VAR_007954 phenoCommon Non-ketotic hyperglycinemia (NKH) [MIM:605899] VAR_007957 commonName VAR_007957 VAR_007957 disease phenotype-associated VAR_007957 phenoCommon Parkinson disease type 1 (PARK1) [MIM:168601] VAR_007958 commonName VAR_007958 VAR_007958 disease phenotype-associated VAR_007958 phenoCommon Alzheimer disease type 4 (AD4) [MIM:606889] VAR_007959 commonName VAR_007959 VAR_007959 disease not phenotype-associated VAR_007960 commonName VAR_007960 VAR_007960 disease not phenotype-associated VAR_007961 commonName VAR_007961 VAR_007962 commonName VAR_007962 VAR_007962 disease not phenotype-associated VAR_007963 commonName VAR_007963 VAR_007963 disease not phenotype-associated VAR_007964 commonName VAR_007964 VAR_007964 disease not phenotype-associated VAR_007966 commonName VAR_007966 VAR_007966 disease phenotype-associated VAR_007966 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] VAR_007967 commonName VAR_007967 VAR_007967 disease phenotype-associated VAR_007967 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] VAR_007968 commonName VAR_007968 VAR_007968 disease phenotype-associated VAR_007968 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] VAR_007969 commonName VAR_007969 VAR_007969 disease phenotype-associated VAR_007969 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] VAR_007970 commonName VAR_007970 VAR_007970 disease phenotype-associated VAR_007970 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] VAR_007971 commonName VAR_007971 VAR_007971 disease phenotype-associated VAR_007971 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] VAR_007972 commonName VAR_007972 VAR_007972 disease phenotype-associated VAR_007972 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] VAR_007973 commonName VAR_007973 VAR_007973 disease phenotype-associated VAR_007973 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] VAR_007974 commonName VAR_007974 VAR_007974 disease phenotype-associated VAR_007974 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] VAR_007975 commonName VAR_007975 VAR_007975 disease phenotype-associated VAR_007975 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] VAR_007976 commonName VAR_007976 VAR_007976 disease phenotype-associated VAR_007976 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] VAR_007977 commonName VAR_007977 VAR_007977 disease phenotype-associated VAR_007977 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] VAR_007978 commonName VAR_007978 VAR_007978 disease phenotype-associated VAR_007978 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] VAR_007979 commonName VAR_007979 VAR_007979 disease phenotype-associated VAR_007979 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_007980 commonName VAR_007980 VAR_007980 disease phenotype-associated VAR_007980 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_007981 commonName VAR_007981 VAR_007981 disease phenotype-associated VAR_007981 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_007982 commonName VAR_007982 VAR_007982 disease phenotype-associated VAR_007982 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_007983 commonName VAR_007983 VAR_007983 disease phenotype-associated VAR_007983 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_007984 commonName VAR_007984 VAR_007984 disease phenotype-associated VAR_007984 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_007985 commonName VAR_007985 VAR_007985 disease phenotype-associated VAR_007985 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_007986 commonName VAR_007986 VAR_007986 disease phenotype-associated VAR_007986 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_007987 commonName VAR_007987 VAR_007987 disease phenotype-associated VAR_007987 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_007988 commonName VAR_007988 VAR_007988 disease phenotype-associated VAR_007988 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_007990 commonName VAR_007990 VAR_007990 disease phenotype-associated VAR_007990 phenoCommon Spinal muscular atrophy autosomal recessive type 2 (SMA2) [MIM:253550] VAR_007990 phenoCommon Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400] VAR_008017 commonName VAR_008017 VAR_008017 disease phenotype-associated VAR_008017 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_008018 commonName VAR_008018 VAR_008018 disease phenotype-associated VAR_008018 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_008019 commonName VAR_008019 VAR_008019 disease not phenotype-associated VAR_008020 commonName VAR_008020 VAR_008020 disease phenotype-associated VAR_008020 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_008021 commonName VAR_008021 VAR_008021 disease phenotype-associated VAR_008021 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_008022 commonName VAR_008022 VAR_008022 disease phenotype-associated VAR_008022 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_008023 commonName VAR_008023 VAR_008023 disease not phenotype-associated VAR_008024 commonName VAR_008024 VAR_008024 disease not phenotype-associated VAR_008025 commonName VAR_008025 VAR_008025 disease not phenotype-associated VAR_008026 commonName VAR_008026 VAR_008026 disease phenotype-associated VAR_008026 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_008027 commonName VAR_008027 VAR_008027 disease phenotype-associated VAR_008027 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_008028 commonName VAR_008028 VAR_008028 disease phenotype-associated VAR_008028 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_008029 commonName VAR_008029 VAR_008029 disease phenotype-associated VAR_008029 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_008030 commonName VAR_008030 VAR_008030 disease phenotype-associated VAR_008030 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_008031 commonName VAR_008031 VAR_008031 disease phenotype-associated VAR_008031 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_008032 commonName VAR_008032 VAR_008032 disease phenotype-associated VAR_008032 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_008033 commonName VAR_008033 VAR_008033 disease phenotype-associated VAR_008033 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_008034 commonName VAR_008034 VAR_008034 disease not phenotype-associated VAR_008035 commonName VAR_008035 VAR_008035 disease not phenotype-associated VAR_008036 commonName VAR_008036 VAR_008036 disease phenotype-associated VAR_008036 phenoCommon Cowden disease (CD) [MIM:158350] VAR_008037 commonName VAR_008037 VAR_008037 disease not phenotype-associated VAR_008039 commonName VAR_008039 VAR_008039 disease phenotype-associated VAR_008039 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] VAR_008040 commonName VAR_008040 VAR_008040 disease phenotype-associated VAR_008040 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] VAR_008041 commonName VAR_008041 VAR_008041 disease phenotype-associated VAR_008041 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] VAR_008042 commonName VAR_008042 VAR_008042 disease phenotype-associated VAR_008042 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_008043 commonName VAR_008043 VAR_008043 disease phenotype-associated VAR_008043 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_008044 commonName VAR_008044 VAR_008044 disease phenotype-associated VAR_008044 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_008045 commonName VAR_008045 VAR_008045 disease phenotype-associated VAR_008045 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_008047 commonName VAR_008047 VAR_008047 disease phenotype-associated VAR_008047 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_008048 commonName VAR_008048 VAR_008048 disease phenotype-associated VAR_008048 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_008049 commonName VAR_008049 VAR_008049 disease phenotype-associated VAR_008049 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008050 commonName VAR_008050 VAR_008050 disease phenotype-associated VAR_008050 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008051 commonName VAR_008051 VAR_008051 disease phenotype-associated VAR_008051 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008052 commonName VAR_008052 VAR_008052 disease phenotype-associated VAR_008052 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008053 commonName VAR_008053 VAR_008053 disease phenotype-associated VAR_008053 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008054 commonName VAR_008054 VAR_008054 disease phenotype-associated VAR_008054 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008055 commonName VAR_008055 VAR_008055 disease phenotype-associated VAR_008055 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008056 commonName VAR_008056 VAR_008056 disease phenotype-associated VAR_008056 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008057 commonName VAR_008057 VAR_008057 disease phenotype-associated VAR_008057 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008058 commonName VAR_008058 VAR_008058 disease phenotype-associated VAR_008058 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008059 commonName VAR_008059 VAR_008059 disease phenotype-associated VAR_008059 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008060 commonName VAR_008060 VAR_008060 disease phenotype-associated VAR_008060 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008061 commonName VAR_008061 VAR_008061 disease phenotype-associated VAR_008061 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008062 commonName VAR_008062 VAR_008062 disease phenotype-associated VAR_008062 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008064 commonName VAR_008064 VAR_008064 disease phenotype-associated VAR_008064 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008065 commonName VAR_008065 VAR_008065 disease phenotype-associated VAR_008065 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008066 commonName VAR_008066 VAR_008066 disease phenotype-associated VAR_008066 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008067 commonName VAR_008067 VAR_008067 disease phenotype-associated VAR_008067 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008068 commonName VAR_008068 VAR_008068 disease phenotype-associated VAR_008068 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008069 commonName VAR_008069 VAR_008069 disease phenotype-associated VAR_008069 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008070 commonName VAR_008070 VAR_008070 disease phenotype-associated VAR_008070 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008071 commonName VAR_008071 VAR_008071 disease phenotype-associated VAR_008071 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008072 commonName VAR_008072 VAR_008072 disease phenotype-associated VAR_008072 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008073 commonName VAR_008073 VAR_008073 disease phenotype-associated VAR_008073 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008074 commonName VAR_008074 VAR_008074 disease phenotype-associated VAR_008074 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008076 commonName VAR_008076 VAR_008076 disease phenotype-associated VAR_008076 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008077 commonName VAR_008077 VAR_008077 disease phenotype-associated VAR_008077 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008078 commonName VAR_008078 VAR_008078 disease phenotype-associated VAR_008078 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008079 commonName VAR_008079 VAR_008079 disease phenotype-associated VAR_008079 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008080 commonName VAR_008080 VAR_008080 disease phenotype-associated VAR_008080 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008081 commonName VAR_008081 VAR_008081 disease phenotype-associated VAR_008081 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008082 commonName VAR_008082 VAR_008082 disease phenotype-associated VAR_008082 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008083 commonName VAR_008083 VAR_008083 disease phenotype-associated VAR_008083 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008084 commonName VAR_008084 VAR_008084 disease phenotype-associated VAR_008084 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008085 commonName VAR_008085 VAR_008085 disease phenotype-associated VAR_008085 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008086 commonName VAR_008086 VAR_008086 disease phenotype-associated VAR_008086 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008087 commonName VAR_008087 VAR_008087 disease phenotype-associated VAR_008087 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008088 commonName VAR_008088 VAR_008088 disease phenotype-associated VAR_008088 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008089 commonName VAR_008089 VAR_008089 disease phenotype-associated VAR_008089 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008090 commonName VAR_008090 VAR_008090 disease phenotype-associated VAR_008090 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_008094 commonName VAR_008094 VAR_008095 commonName VAR_008095 VAR_008095 disease phenotype-associated VAR_008095 phenoCommon Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] VAR_008096 commonName VAR_008096 VAR_008096 disease phenotype-associated VAR_008096 phenoCommon Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] VAR_008097 commonName VAR_008097 VAR_008097 disease phenotype-associated VAR_008097 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_008098 commonName VAR_008098 VAR_008098 disease phenotype-associated VAR_008098 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_008099 commonName VAR_008099 VAR_008099 disease phenotype-associated VAR_008099 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_008100 commonName VAR_008100 VAR_008100 disease phenotype-associated VAR_008100 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_008101 commonName VAR_008101 VAR_008101 disease phenotype-associated VAR_008101 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_008102 commonName VAR_008102 VAR_008102 disease phenotype-associated VAR_008102 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_008103 commonName VAR_008103 VAR_008103 disease phenotype-associated VAR_008103 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_008104 commonName VAR_008104 VAR_008104 disease phenotype-associated VAR_008104 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_008105 commonName VAR_008105 VAR_008105 disease phenotype-associated VAR_008105 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000] VAR_008106 commonName VAR_008106 VAR_008106 disease phenotype-associated VAR_008106 phenoCommon Thrombocytopenia type 1 (THC1) [MIM:313900] VAR_008106 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000] VAR_008107 commonName VAR_008107 VAR_008107 disease phenotype-associated VAR_008107 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000] VAR_008108 commonName VAR_008108 VAR_008108 disease phenotype-associated VAR_008108 phenoCommon Thrombocytopenia type 1 (THC1) [MIM:313900] VAR_008109 commonName VAR_008109 VAR_008109 disease phenotype-associated VAR_008109 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000] VAR_008110 commonName VAR_008110 VAR_008110 disease phenotype-associated VAR_008110 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000] VAR_008111 commonName VAR_008111 VAR_008111 disease not phenotype-associated VAR_008112 commonName VAR_008112 VAR_008112 disease not phenotype-associated VAR_008113 commonName VAR_008113 VAR_008113 disease phenotype-associated VAR_008113 phenoCommon Hemochromatosis (HFE) [MIM:235200] VAR_008114 commonName VAR_008114 VAR_008114 disease phenotype-associated VAR_008114 phenoCommon Hemochromatosis (HFE) [MIM:235200] VAR_008118 commonName VAR_008118 VAR_008118 disease phenotype-associated VAR_008118 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_008118 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_008119 commonName VAR_008119 VAR_008119 disease phenotype-associated VAR_008119 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_008120 commonName VAR_008120 VAR_008120 disease phenotype-associated VAR_008120 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_008121 commonName VAR_008121 VAR_008121 disease phenotype-associated VAR_008121 phenoCommon BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630] VAR_008122 commonName VAR_008122 VAR_008122 disease phenotype-associated VAR_008122 phenoCommon BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630] VAR_008123 commonName VAR_008123 VAR_008123 disease phenotype-associated VAR_008123 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_008124 commonName VAR_008124 VAR_008124 disease phenotype-associated VAR_008124 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_008125 commonName VAR_008125 VAR_008125 disease phenotype-associated VAR_008125 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_008126 commonName VAR_008126 VAR_008126 disease phenotype-associated VAR_008126 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_008127 commonName VAR_008127 VAR_008127 disease phenotype-associated VAR_008127 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_008129 commonName VAR_008129 VAR_008129 disease phenotype-associated VAR_008129 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_008130 commonName VAR_008130 VAR_008130 disease phenotype-associated VAR_008130 phenoCommon Mental retardation X-linked type 41 (MRX41) [MIM:300849] VAR_008131 commonName VAR_008131 VAR_008131 disease phenotype-associated VAR_008131 phenoCommon Mental retardation X-linked type 41 (MRX41) [MIM:300849] VAR_008132 commonName VAR_008132 VAR_008132 disease phenotype-associated VAR_008132 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_008137 commonName VAR_008137 VAR_008137 disease phenotype-associated VAR_008137 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_008138 commonName VAR_008138 VAR_008138 disease phenotype-associated VAR_008138 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_008139 commonName VAR_008139 VAR_008139 disease phenotype-associated VAR_008139 phenoCommon Friedreich ataxia (FRDA) [MIM:229300] VAR_008140 commonName VAR_008140 VAR_008140 disease phenotype-associated VAR_008140 phenoCommon Friedreich ataxia (FRDA) [MIM:229300] VAR_008141 commonName VAR_008141 VAR_008141 disease phenotype-associated VAR_008141 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_008142 commonName VAR_008142 VAR_008142 disease not phenotype-associated VAR_008143 commonName VAR_008143 VAR_008143 disease not phenotype-associated VAR_008145 commonName VAR_008145 VAR_008145 disease phenotype-associated VAR_008145 phenoCommon Trimethylaminuria (TMAU) [MIM:602079] VAR_008146 commonName VAR_008146 VAR_008146 disease phenotype-associated VAR_008146 phenoCommon Trimethylaminuria (TMAU) [MIM:602079] VAR_008147 commonName VAR_008147 VAR_008147 disease phenotype-associated VAR_008147 phenoCommon Trimethylaminuria (TMAU) [MIM:602079] VAR_008149 commonName VAR_008149 VAR_008149 disease not phenotype-associated VAR_008150 commonName VAR_008150 VAR_008150 disease not phenotype-associated VAR_008151 commonName VAR_008151 VAR_008151 disease not phenotype-associated VAR_008152 commonName VAR_008152 VAR_008152 disease not phenotype-associated VAR_008153 commonName VAR_008153 VAR_008153 disease phenotype-associated VAR_008153 phenoCommon Alport syndrome autosomal recessive (APSAR) [MIM:203780] VAR_008154 commonName VAR_008154 VAR_008154 disease not phenotype-associated VAR_008155 commonName VAR_008155 VAR_008155 disease phenotype-associated VAR_008155 phenoCommon Alport syndrome autosomal recessive (APSAR) [MIM:203780] VAR_008169 commonName VAR_008169 VAR_008169 disease not phenotype-associated VAR_008170 commonName VAR_008170 VAR_008170 disease not phenotype-associated VAR_008171 commonName VAR_008171 VAR_008171 disease not phenotype-associated VAR_008172 commonName VAR_008172 VAR_008172 disease phenotype-associated VAR_008172 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250] VAR_008173 commonName VAR_008173 VAR_008173 disease phenotype-associated VAR_008173 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250] VAR_008174 commonName VAR_008174 VAR_008174 disease phenotype-associated VAR_008174 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250] VAR_008175 commonName VAR_008175 VAR_008175 disease phenotype-associated VAR_008175 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250] VAR_008176 commonName VAR_008176 VAR_008176 disease phenotype-associated VAR_008176 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250] VAR_008177 commonName VAR_008177 VAR_008177 disease phenotype-associated VAR_008177 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250] VAR_008178 commonName VAR_008178 VAR_008178 disease phenotype-associated VAR_008178 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250] VAR_008179 commonName VAR_008179 VAR_008179 disease phenotype-associated VAR_008179 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250] VAR_008180 commonName VAR_008180 VAR_008180 disease phenotype-associated VAR_008180 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008181 commonName VAR_008181 VAR_008181 disease phenotype-associated VAR_008181 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008182 commonName VAR_008182 VAR_008182 disease phenotype-associated VAR_008182 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008183 commonName VAR_008183 VAR_008183 disease phenotype-associated VAR_008183 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008184 commonName VAR_008184 VAR_008184 disease phenotype-associated VAR_008184 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008185 commonName VAR_008185 VAR_008185 disease phenotype-associated VAR_008185 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008186 commonName VAR_008186 VAR_008186 disease phenotype-associated VAR_008186 phenoCommon Trichothiodystrophy photosensitive (TTDP) [MIM:601675] VAR_008187 commonName VAR_008187 VAR_008187 disease phenotype-associated VAR_008187 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] VAR_008188 commonName VAR_008188 VAR_008188 disease phenotype-associated VAR_008188 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] VAR_008189 commonName VAR_008189 VAR_008189 disease phenotype-associated VAR_008189 phenoCommon Trichothiodystrophy photosensitive (TTDP) [MIM:601675] VAR_008191 commonName VAR_008191 VAR_008191 disease phenotype-associated VAR_008191 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] VAR_008192 commonName VAR_008192 VAR_008192 disease phenotype-associated VAR_008192 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] VAR_008193 commonName VAR_008193 VAR_008193 disease phenotype-associated VAR_008193 phenoCommon Cerebro-oculo-facio-skeletal syndrome type 2 (COFS2) [MIM:610756] VAR_008193 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] VAR_008194 commonName VAR_008194 VAR_008194 disease phenotype-associated VAR_008194 phenoCommon Trichothiodystrophy photosensitive (TTDP) [MIM:601675] VAR_008195 commonName VAR_008195 VAR_008195 disease phenotype-associated VAR_008195 phenoCommon Trichothiodystrophy photosensitive (TTDP) [MIM:601675] VAR_008196 commonName VAR_008196 VAR_008196 disease phenotype-associated VAR_008196 phenoCommon Trichothiodystrophy photosensitive (TTDP) [MIM:601675] VAR_008197 commonName VAR_008197 VAR_008197 disease phenotype-associated VAR_008197 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] VAR_008198 commonName VAR_008198 VAR_008198 disease phenotype-associated VAR_008198 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] VAR_008200 commonName VAR_008200 VAR_008200 disease phenotype-associated VAR_008200 phenoCommon Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760] VAR_008201 commonName VAR_008201 VAR_008201 disease phenotype-associated VAR_008201 phenoCommon Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760] VAR_008209 commonName VAR_008209 VAR_008209 disease phenotype-associated VAR_008209 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008210 commonName VAR_008210 VAR_008210 disease phenotype-associated VAR_008210 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008211 commonName VAR_008211 VAR_008211 disease phenotype-associated VAR_008211 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008212 commonName VAR_008212 VAR_008212 disease phenotype-associated VAR_008212 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008213 commonName VAR_008213 VAR_008213 disease phenotype-associated VAR_008213 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008214 commonName VAR_008214 VAR_008214 disease phenotype-associated VAR_008214 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008215 commonName VAR_008215 VAR_008215 disease phenotype-associated VAR_008215 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008216 commonName VAR_008216 VAR_008216 disease phenotype-associated VAR_008216 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008217 commonName VAR_008217 VAR_008217 disease phenotype-associated VAR_008217 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008218 commonName VAR_008218 VAR_008218 disease phenotype-associated VAR_008218 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008219 commonName VAR_008219 VAR_008219 disease phenotype-associated VAR_008219 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008220 commonName VAR_008220 VAR_008220 disease phenotype-associated VAR_008220 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008221 commonName VAR_008221 VAR_008221 disease phenotype-associated VAR_008221 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008222 commonName VAR_008222 VAR_008222 disease phenotype-associated VAR_008222 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008223 commonName VAR_008223 VAR_008223 disease phenotype-associated VAR_008223 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008224 commonName VAR_008224 VAR_008224 disease phenotype-associated VAR_008224 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008225 commonName VAR_008225 VAR_008225 disease phenotype-associated VAR_008225 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008226 commonName VAR_008226 VAR_008226 disease phenotype-associated VAR_008226 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008227 commonName VAR_008227 VAR_008227 disease phenotype-associated VAR_008227 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008228 commonName VAR_008228 VAR_008228 disease phenotype-associated VAR_008228 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008229 commonName VAR_008229 VAR_008229 disease phenotype-associated VAR_008229 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008230 commonName VAR_008230 VAR_008230 disease phenotype-associated VAR_008230 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008231 commonName VAR_008231 VAR_008231 disease phenotype-associated VAR_008231 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008232 commonName VAR_008232 VAR_008232 disease phenotype-associated VAR_008232 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008233 commonName VAR_008233 VAR_008233 disease phenotype-associated VAR_008233 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008234 commonName VAR_008234 VAR_008234 disease phenotype-associated VAR_008234 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008235 commonName VAR_008235 VAR_008235 disease phenotype-associated VAR_008235 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008236 commonName VAR_008236 VAR_008236 disease phenotype-associated VAR_008236 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008237 commonName VAR_008237 VAR_008237 disease phenotype-associated VAR_008237 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008238 commonName VAR_008238 VAR_008238 disease phenotype-associated VAR_008238 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008239 commonName VAR_008239 VAR_008239 disease not phenotype-associated VAR_008240 commonName VAR_008240 VAR_008240 disease phenotype-associated VAR_008240 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008241 commonName VAR_008241 VAR_008241 disease phenotype-associated VAR_008241 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008242 commonName VAR_008242 VAR_008242 disease phenotype-associated VAR_008242 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008243 commonName VAR_008243 VAR_008243 disease phenotype-associated VAR_008243 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008244 commonName VAR_008244 VAR_008244 disease phenotype-associated VAR_008244 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008245 commonName VAR_008245 VAR_008245 disease phenotype-associated VAR_008245 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008246 commonName VAR_008246 VAR_008246 disease phenotype-associated VAR_008246 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008247 commonName VAR_008247 VAR_008247 disease phenotype-associated VAR_008247 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008248 commonName VAR_008248 VAR_008248 disease phenotype-associated VAR_008248 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008249 commonName VAR_008249 VAR_008249 disease phenotype-associated VAR_008249 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008251 commonName VAR_008251 VAR_008251 disease phenotype-associated VAR_008251 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008252 commonName VAR_008252 VAR_008252 disease phenotype-associated VAR_008252 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008253 commonName VAR_008253 VAR_008253 disease phenotype-associated VAR_008253 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008254 commonName VAR_008254 VAR_008254 disease phenotype-associated VAR_008254 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008255 commonName VAR_008255 VAR_008255 disease phenotype-associated VAR_008255 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008256 commonName VAR_008256 VAR_008256 disease phenotype-associated VAR_008256 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008257 commonName VAR_008257 VAR_008257 disease phenotype-associated VAR_008257 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008258 commonName VAR_008258 VAR_008258 disease phenotype-associated VAR_008258 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008259 commonName VAR_008259 VAR_008259 disease phenotype-associated VAR_008259 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008260 commonName VAR_008260 VAR_008260 disease phenotype-associated VAR_008260 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008261 commonName VAR_008261 VAR_008261 disease phenotype-associated VAR_008261 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008262 commonName VAR_008262 VAR_008262 disease phenotype-associated VAR_008262 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_008263 commonName VAR_008263 VAR_008263 disease not phenotype-associated VAR_008264 commonName VAR_008264 VAR_008264 disease not phenotype-associated VAR_008265 commonName VAR_008265 VAR_008265 disease not phenotype-associated VAR_008269 commonName VAR_008269 VAR_008269 disease not phenotype-associated VAR_008270 commonName VAR_008270 VAR_008270 disease not phenotype-associated VAR_008271 commonName VAR_008271 VAR_008271 disease not phenotype-associated VAR_008272 commonName VAR_008272 VAR_008272 disease not phenotype-associated VAR_008273 commonName VAR_008273 VAR_008273 disease phenotype-associated VAR_008273 phenoCommon Choroideremia (CHM) [MIM:303100] VAR_008274 commonName VAR_008274 VAR_008274 disease not phenotype-associated VAR_008275 commonName VAR_008275 VAR_008275 disease phenotype-associated VAR_008275 phenoCommon Retinitis pigmentosa type 14 (RP14) [MIM:600132] VAR_008276 commonName VAR_008276 VAR_008276 disease not phenotype-associated VAR_008277 commonName VAR_008277 VAR_008277 disease phenotype-associated VAR_008277 phenoCommon Retinitis pigmentosa type 14 (RP14) [MIM:600132] VAR_008278 commonName VAR_008278 VAR_008278 disease phenotype-associated VAR_008278 phenoCommon Retinitis pigmentosa type 14 (RP14) [MIM:600132] VAR_008279 commonName VAR_008279 VAR_008279 disease phenotype-associated VAR_008279 phenoCommon Retinitis pigmentosa type 14 (RP14) [MIM:600132] VAR_008282 commonName VAR_008282 VAR_008282 disease phenotype-associated VAR_008282 phenoCommon Retinitis pigmentosa (RP) [MIM:268000] VAR_008283 commonName VAR_008283 VAR_008283 disease not phenotype-associated VAR_008284 commonName VAR_008284 VAR_008284 disease not phenotype-associated VAR_008285 commonName VAR_008285 VAR_008285 disease not phenotype-associated VAR_008286 commonName VAR_008286 VAR_008286 disease not phenotype-associated VAR_008287 commonName VAR_008287 VAR_008287 disease not phenotype-associated VAR_008288 commonName VAR_008288 VAR_008288 disease not phenotype-associated VAR_008289 commonName VAR_008289 VAR_008289 disease not phenotype-associated VAR_008290 commonName VAR_008290 VAR_008290 disease phenotype-associated VAR_008290 phenoCommon Sorsby fundus dystrophy (SFD) [MIM:136900] VAR_008291 commonName VAR_008291 VAR_008291 disease phenotype-associated VAR_008291 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008292 commonName VAR_008292 VAR_008292 disease phenotype-associated VAR_008292 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008293 commonName VAR_008293 VAR_008293 disease phenotype-associated VAR_008293 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008294 commonName VAR_008294 VAR_008294 disease phenotype-associated VAR_008294 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008295 commonName VAR_008295 VAR_008295 disease phenotype-associated VAR_008295 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008296 commonName VAR_008296 VAR_008296 disease phenotype-associated VAR_008296 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008297 commonName VAR_008297 VAR_008297 disease phenotype-associated VAR_008297 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008298 commonName VAR_008298 VAR_008298 disease phenotype-associated VAR_008298 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008299 commonName VAR_008299 VAR_008299 disease phenotype-associated VAR_008299 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008300 commonName VAR_008300 VAR_008300 disease phenotype-associated VAR_008300 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008301 commonName VAR_008301 VAR_008301 disease phenotype-associated VAR_008301 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008302 commonName VAR_008302 VAR_008302 disease phenotype-associated VAR_008302 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008303 commonName VAR_008303 VAR_008303 disease phenotype-associated VAR_008303 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008304 commonName VAR_008304 VAR_008304 disease phenotype-associated VAR_008304 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008305 commonName VAR_008305 VAR_008305 disease phenotype-associated VAR_008305 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008306 commonName VAR_008306 VAR_008306 disease phenotype-associated VAR_008306 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008307 commonName VAR_008307 VAR_008307 disease phenotype-associated VAR_008307 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008308 commonName VAR_008308 VAR_008308 disease phenotype-associated VAR_008308 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008309 commonName VAR_008309 VAR_008309 disease phenotype-associated VAR_008309 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008310 commonName VAR_008310 VAR_008310 disease phenotype-associated VAR_008310 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008311 commonName VAR_008311 VAR_008311 disease phenotype-associated VAR_008311 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008312 commonName VAR_008312 VAR_008312 disease phenotype-associated VAR_008312 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008313 commonName VAR_008313 VAR_008313 disease phenotype-associated VAR_008313 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008314 commonName VAR_008314 VAR_008314 disease phenotype-associated VAR_008314 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008315 commonName VAR_008315 VAR_008315 disease phenotype-associated VAR_008315 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008316 commonName VAR_008316 VAR_008316 disease phenotype-associated VAR_008316 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008317 commonName VAR_008317 VAR_008317 disease phenotype-associated VAR_008317 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008318 commonName VAR_008318 VAR_008318 disease phenotype-associated VAR_008318 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008319 commonName VAR_008319 VAR_008319 disease phenotype-associated VAR_008319 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008320 commonName VAR_008320 VAR_008320 disease phenotype-associated VAR_008320 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008321 commonName VAR_008321 VAR_008321 disease phenotype-associated VAR_008321 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008322 commonName VAR_008322 VAR_008322 disease phenotype-associated VAR_008322 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008323 commonName VAR_008323 VAR_008323 disease phenotype-associated VAR_008323 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008342 commonName VAR_008342 VAR_008342 disease not phenotype-associated VAR_008343 commonName VAR_008343 VAR_008343 disease not phenotype-associated VAR_008344 commonName VAR_008344 VAR_008344 disease not phenotype-associated VAR_008345 commonName VAR_008345 VAR_008345 disease not phenotype-associated VAR_008346 commonName VAR_008346 VAR_008346 disease not phenotype-associated VAR_008350 commonName VAR_008350 VAR_008350 disease phenotype-associated VAR_008350 phenoCommon Primary open angle glaucoma (POAG) [MIM:137760] VAR_008351 commonName VAR_008351 VAR_008351 disease not phenotype-associated VAR_008352 commonName VAR_008352 VAR_008352 disease phenotype-associated VAR_008352 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_008352 phenoCommon Primary open angle glaucoma (POAG) [MIM:137760] VAR_008353 commonName VAR_008353 VAR_008353 disease phenotype-associated VAR_008353 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_008354 commonName VAR_008354 VAR_008354 disease phenotype-associated VAR_008354 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_008355 commonName VAR_008355 VAR_008355 disease not phenotype-associated VAR_008356 commonName VAR_008356 VAR_008356 disease not phenotype-associated VAR_008357 commonName VAR_008357 VAR_008357 disease not phenotype-associated VAR_008358 commonName VAR_008358 VAR_008358 disease not phenotype-associated VAR_008359 commonName VAR_008359 VAR_008359 disease not phenotype-associated VAR_008360 commonName VAR_008360 VAR_008360 disease not phenotype-associated VAR_008361 commonName VAR_008361 VAR_008361 disease not phenotype-associated VAR_008363 commonName VAR_008363 VAR_008363 disease not phenotype-associated VAR_008364 commonName VAR_008364 VAR_008364 disease not phenotype-associated VAR_008365 commonName VAR_008365 VAR_008365 disease not phenotype-associated VAR_008375 commonName VAR_008375 VAR_008375 disease not phenotype-associated VAR_008376 commonName VAR_008376 VAR_008376 disease phenotype-associated VAR_008376 phenoCommon Long QT syndrome type 6 (LQT6) [MIM:613693] VAR_008377 commonName VAR_008377 VAR_008377 disease phenotype-associated VAR_008377 phenoCommon Long QT syndrome type 6 (LQT6) [MIM:613693] VAR_008378 commonName VAR_008378 VAR_008378 disease phenotype-associated VAR_008378 phenoCommon Long QT syndrome type 6 (LQT6) [MIM:613693] VAR_008384 commonName VAR_008384 VAR_008384 disease not phenotype-associated VAR_008398 commonName VAR_008398 VAR_008398 disease phenotype-associated VAR_008398 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008399 commonName VAR_008399 VAR_008399 disease phenotype-associated VAR_008399 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008400 commonName VAR_008400 VAR_008400 disease phenotype-associated VAR_008400 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008401 commonName VAR_008401 VAR_008401 disease phenotype-associated VAR_008401 phenoCommon Cone-rod dystrophy type 3 (CORD3) [MIM:604116] VAR_008401 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008402 commonName VAR_008402 VAR_008402 disease phenotype-associated VAR_008402 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008403 commonName VAR_008403 VAR_008403 disease phenotype-associated VAR_008403 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008404 commonName VAR_008404 VAR_008404 disease phenotype-associated VAR_008404 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008405 commonName VAR_008405 VAR_008405 disease phenotype-associated VAR_008405 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008406 commonName VAR_008406 VAR_008406 disease phenotype-associated VAR_008406 phenoCommon Cone-rod dystrophy type 3 (CORD3) [MIM:604116] VAR_008406 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008407 commonName VAR_008407 VAR_008407 disease phenotype-associated VAR_008407 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008408 commonName VAR_008408 VAR_008408 disease phenotype-associated VAR_008408 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008409 commonName VAR_008409 VAR_008409 disease phenotype-associated VAR_008409 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008410 commonName VAR_008410 VAR_008410 disease phenotype-associated VAR_008410 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008411 commonName VAR_008411 VAR_008411 disease phenotype-associated VAR_008411 phenoCommon Cone-rod dystrophy type 3 (CORD3) [MIM:604116] VAR_008411 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008412 commonName VAR_008412 VAR_008412 disease phenotype-associated VAR_008412 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008413 commonName VAR_008413 VAR_008413 disease phenotype-associated VAR_008413 phenoCommon Age-related macular degeneration type 2 (ARMD2) [MIM:153800] VAR_008413 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008414 commonName VAR_008414 VAR_008414 disease phenotype-associated VAR_008414 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008415 commonName VAR_008415 VAR_008415 disease phenotype-associated VAR_008415 phenoCommon Cone-rod dystrophy type 3 (CORD3) [MIM:604116] VAR_008415 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200] VAR_008415 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008416 commonName VAR_008416 VAR_008416 disease phenotype-associated VAR_008416 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008417 commonName VAR_008417 VAR_008417 disease phenotype-associated VAR_008417 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008418 commonName VAR_008418 VAR_008418 disease phenotype-associated VAR_008418 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008419 commonName VAR_008419 VAR_008419 disease phenotype-associated VAR_008419 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008420 commonName VAR_008420 VAR_008420 disease not phenotype-associated VAR_008421 commonName VAR_008421 VAR_008421 disease phenotype-associated VAR_008421 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008422 commonName VAR_008422 VAR_008422 disease phenotype-associated VAR_008422 phenoCommon Age-related macular degeneration type 2 (ARMD2) [MIM:153800] VAR_008422 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008423 commonName VAR_008423 VAR_008423 disease phenotype-associated VAR_008423 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008424 commonName VAR_008424 VAR_008424 disease phenotype-associated VAR_008424 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008425 commonName VAR_008425 VAR_008425 disease phenotype-associated VAR_008425 phenoCommon Cone-rod dystrophy type 3 (CORD3) [MIM:604116] VAR_008425 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200] VAR_008425 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008426 commonName VAR_008426 VAR_008426 disease not phenotype-associated VAR_008427 commonName VAR_008427 VAR_008427 disease phenotype-associated VAR_008427 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008428 commonName VAR_008428 VAR_008428 disease not phenotype-associated VAR_008429 commonName VAR_008429 VAR_008429 disease phenotype-associated VAR_008429 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008430 commonName VAR_008430 VAR_008430 disease phenotype-associated VAR_008430 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008431 commonName VAR_008431 VAR_008431 disease phenotype-associated VAR_008431 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008432 commonName VAR_008432 VAR_008432 disease phenotype-associated VAR_008432 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008433 commonName VAR_008433 VAR_008433 disease phenotype-associated VAR_008433 phenoCommon Cone-rod dystrophy type 3 (CORD3) [MIM:604116] VAR_008433 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200] VAR_008433 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008434 commonName VAR_008434 VAR_008434 disease phenotype-associated VAR_008434 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008435 commonName VAR_008435 VAR_008435 disease phenotype-associated VAR_008435 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008436 commonName VAR_008436 VAR_008436 disease phenotype-associated VAR_008436 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008437 commonName VAR_008437 VAR_008437 disease phenotype-associated VAR_008437 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008438 commonName VAR_008438 HbVar.674 phenoCommon Hemoglobin variant VAR_008438 disease phenotype-associated VAR_008438 phenoCommon Cone-rod dystrophy type 3 (CORD3) [MIM:604116] VAR_008438 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008439 commonName VAR_008439 VAR_008439 disease phenotype-associated VAR_008439 phenoCommon Age-related macular degeneration type 2 (ARMD2) [MIM:153800] VAR_008439 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008440 commonName VAR_008440 VAR_008440 disease phenotype-associated VAR_008440 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008441 commonName VAR_008441 VAR_008441 disease phenotype-associated VAR_008441 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008442 commonName VAR_008442 VAR_008442 disease not phenotype-associated VAR_008443 commonName VAR_008443 VAR_008443 disease phenotype-associated VAR_008443 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008444 commonName VAR_008444 VAR_008444 disease phenotype-associated VAR_008444 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008445 commonName VAR_008445 VAR_008445 disease phenotype-associated VAR_008445 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008446 commonName VAR_008446 VAR_008446 disease phenotype-associated VAR_008446 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008447 commonName VAR_008447 VAR_008447 disease phenotype-associated VAR_008447 phenoCommon Age-related macular degeneration type 2 (ARMD2) [MIM:153800] VAR_008448 commonName VAR_008448 VAR_008448 disease phenotype-associated VAR_008448 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008449 commonName VAR_008449 VAR_008449 disease phenotype-associated VAR_008449 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008450 commonName VAR_008450 VAR_008450 disease phenotype-associated VAR_008450 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008451 commonName VAR_008451 VAR_008451 disease phenotype-associated VAR_008451 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008452 commonName VAR_008452 VAR_008452 disease phenotype-associated VAR_008452 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008453 commonName VAR_008453 VAR_008453 disease phenotype-associated VAR_008453 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200] VAR_008453 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008454 commonName VAR_008454 VAR_008454 disease phenotype-associated VAR_008454 phenoCommon Cone-rod dystrophy type 3 (CORD3) [MIM:604116] VAR_008454 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008455 commonName VAR_008455 VAR_008455 disease phenotype-associated VAR_008455 phenoCommon Age-related macular degeneration type 2 (ARMD2) [MIM:153800] VAR_008456 commonName VAR_008456 VAR_008456 disease phenotype-associated VAR_008456 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008457 commonName VAR_008457 VAR_008457 disease phenotype-associated VAR_008457 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008458 commonName VAR_008458 VAR_008458 disease phenotype-associated VAR_008458 phenoCommon Age-related macular degeneration type 2 (ARMD2) [MIM:153800] VAR_008458 phenoCommon Cone-rod dystrophy type 3 (CORD3) [MIM:604116] VAR_008458 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200] VAR_008458 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008459 commonName VAR_008459 VAR_008459 disease phenotype-associated VAR_008459 phenoCommon Age-related macular degeneration type 2 (ARMD2) [MIM:153800] VAR_008460 commonName VAR_008460 VAR_008460 disease phenotype-associated VAR_008460 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008461 commonName VAR_008461 VAR_008461 disease phenotype-associated VAR_008461 phenoCommon Cone-rod dystrophy type 3 (CORD3) [MIM:604116] VAR_008461 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008462 commonName VAR_008462 VAR_008462 disease phenotype-associated VAR_008462 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008463 commonName VAR_008463 VAR_008463 disease phenotype-associated VAR_008463 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008464 commonName VAR_008464 VAR_008464 disease phenotype-associated VAR_008464 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008465 commonName VAR_008465 VAR_008465 disease phenotype-associated VAR_008465 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008466 commonName VAR_008466 VAR_008466 disease phenotype-associated VAR_008466 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008467 commonName VAR_008467 VAR_008467 disease phenotype-associated VAR_008467 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008468 commonName VAR_008468 VAR_008468 disease phenotype-associated VAR_008468 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008469 commonName VAR_008469 VAR_008469 disease phenotype-associated VAR_008469 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008470 commonName VAR_008470 VAR_008470 disease not phenotype-associated VAR_008471 commonName VAR_008471 VAR_008471 disease phenotype-associated VAR_008471 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008473 commonName VAR_008473 VAR_008473 disease phenotype-associated VAR_008473 phenoCommon Age-related macular degeneration type 2 (ARMD2) [MIM:153800] VAR_008473 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008474 commonName VAR_008474 VAR_008474 disease not phenotype-associated VAR_008475 commonName VAR_008475 VAR_008475 disease phenotype-associated VAR_008475 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200] VAR_008475 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008476 commonName VAR_008476 VAR_008476 disease phenotype-associated VAR_008476 phenoCommon Age-related macular degeneration type 2 (ARMD2) [MIM:153800] VAR_008476 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200] VAR_008477 commonName VAR_008477 VAR_008477 disease phenotype-associated VAR_008477 phenoCommon Age-related macular degeneration type 2 (ARMD2) [MIM:153800] VAR_008477 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008478 commonName VAR_008478 VAR_008478 disease phenotype-associated VAR_008478 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200] VAR_008478 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008480 commonName VAR_008480 VAR_008480 disease phenotype-associated VAR_008480 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200] VAR_008480 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008481 commonName VAR_008481 VAR_008481 disease phenotype-associated VAR_008481 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008482 commonName VAR_008482 VAR_008482 disease phenotype-associated VAR_008482 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008483 commonName VAR_008483 VAR_008483 disease phenotype-associated VAR_008483 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008484 commonName VAR_008484 VAR_008484 disease phenotype-associated VAR_008484 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200] VAR_008484 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008485 commonName VAR_008485 VAR_008485 disease phenotype-associated VAR_008485 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008486 commonName VAR_008486 VAR_008486 disease phenotype-associated VAR_008486 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008487 commonName VAR_008487 VAR_008487 disease phenotype-associated VAR_008487 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008488 commonName VAR_008488 VAR_008488 disease phenotype-associated VAR_008488 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008489 commonName VAR_008489 VAR_008489 disease phenotype-associated VAR_008489 phenoCommon Cone-rod dystrophy type 3 (CORD3) [MIM:604116] VAR_008489 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008490 commonName VAR_008490 VAR_008490 disease phenotype-associated VAR_008490 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008491 commonName VAR_008491 VAR_008491 disease not phenotype-associated VAR_008492 commonName VAR_008492 VAR_008492 disease phenotype-associated VAR_008492 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008493 commonName VAR_008493 VAR_008493 disease not phenotype-associated VAR_008494 commonName VAR_008494 VAR_008494 disease not phenotype-associated VAR_008495 commonName VAR_008495 VAR_008495 disease phenotype-associated VAR_008495 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_008498 commonName VAR_008498 VAR_008498 disease phenotype-associated VAR_008498 phenoCommon Retinitis pigmentosa type 2 (RP2) [MIM:312600] VAR_008499 commonName VAR_008499 VAR_008499 disease phenotype-associated VAR_008499 phenoCommon Retinitis pigmentosa type 2 (RP2) [MIM:312600] VAR_008500 commonName VAR_008500 VAR_008500 disease phenotype-associated VAR_008500 phenoCommon Retinitis pigmentosa type 2 (RP2) [MIM:312600] VAR_008513 commonName VAR_008513 VAR_008513 disease phenotype-associated VAR_008513 phenoCommon Ataxia telangiectasia-like disorder (ATLD) [MIM:604391] VAR_008514 commonName VAR_008514 VAR_008514 disease phenotype-associated VAR_008514 phenoCommon Galactosemia II (GALCT2) [MIM:230200] VAR_008516 commonName VAR_008516 VAR_008516 disease not phenotype-associated VAR_008517 commonName VAR_008517 VAR_008517 disease not phenotype-associated VAR_008518 commonName VAR_008518 VAR_008518 disease not phenotype-associated VAR_008519 commonName VAR_008519 VAR_008519 disease not phenotype-associated VAR_008520 commonName VAR_008520 VAR_008520 disease phenotype-associated VAR_008520 phenoCommon Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218] VAR_008521 commonName VAR_008521 VAR_008521 disease phenotype-associated VAR_008521 phenoCommon Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218] VAR_008522 commonName VAR_008522 VAR_008522 disease not phenotype-associated VAR_008523 commonName VAR_008523 VAR_008523 disease not phenotype-associated VAR_008524 commonName VAR_008524 VAR_008524 disease not phenotype-associated VAR_008525 commonName VAR_008525 VAR_008525 disease phenotype-associated VAR_008525 phenoCommon Meesmann corneal dystrophy (MECD) [MIM:122100] VAR_008526 commonName VAR_008526 VAR_008526 disease phenotype-associated VAR_008526 phenoCommon Meesmann corneal dystrophy (MECD) [MIM:122100] VAR_008527 commonName VAR_008527 VAR_008527 disease phenotype-associated VAR_008527 phenoCommon Meesmann corneal dystrophy (MECD) [MIM:122100] VAR_008528 commonName VAR_008528 VAR_008528 disease phenotype-associated VAR_008528 phenoCommon Meesmann corneal dystrophy (MECD) [MIM:122100] VAR_008529 commonName VAR_008529 VAR_008529 disease phenotype-associated VAR_008529 phenoCommon Campomelic dysplasia (CMD1) [MIM:114290] VAR_008530 commonName VAR_008530 VAR_008530 disease phenotype-associated VAR_008530 phenoCommon Campomelic dysplasia (CMD1) [MIM:114290] VAR_008531 commonName VAR_008531 VAR_008531 disease phenotype-associated VAR_008531 phenoCommon Campomelic dysplasia (CMD1) [MIM:114290] VAR_008532 commonName VAR_008532 VAR_008532 disease phenotype-associated VAR_008532 phenoCommon Deafness autosomal dominant type 9 (DFNA9) [MIM:601369] VAR_008533 commonName VAR_008533 VAR_008533 disease phenotype-associated VAR_008533 phenoCommon Deafness autosomal dominant type 9 (DFNA9) [MIM:601369] VAR_008534 commonName VAR_008534 VAR_008534 disease phenotype-associated VAR_008534 phenoCommon Deafness autosomal dominant type 9 (DFNA9) [MIM:601369] VAR_008535 commonName VAR_008535 VAR_008535 disease phenotype-associated VAR_008535 phenoCommon Deafness autosomal dominant type 9 (DFNA9) [MIM:601369] VAR_008536 commonName VAR_008536 VAR_008536 disease phenotype-associated VAR_008536 phenoCommon Deafness autosomal dominant type 9 (DFNA9) [MIM:601369] VAR_008537 commonName VAR_008537 VAR_008537 disease phenotype-associated VAR_008537 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_008539 commonName VAR_008539 VAR_008539 disease phenotype-associated VAR_008539 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_008540 commonName VAR_008540 VAR_008540 disease phenotype-associated VAR_008540 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_008541 commonName VAR_008541 VAR_008541 disease phenotype-associated VAR_008541 phenoCommon Complement component C1q deficiency (C1QD) [MIM:613652] VAR_008542 commonName VAR_008542 VAR_008542 disease phenotype-associated VAR_008542 phenoCommon Complement component C1q deficiency (C1QD) [MIM:613652] VAR_008543 commonName VAR_008543 VAR_008543 disease not phenotype-associated VAR_008547 commonName VAR_008547 VAR_008547 disease not phenotype-associated VAR_008548 commonName VAR_008548 VAR_008548 disease not phenotype-associated VAR_008549 commonName VAR_008549 VAR_008549 disease not phenotype-associated VAR_008554 comment Colon cancer VAR_008554 commonName VAR_008554 VAR_008554 disease phenotype-associated VAR_008554 phenoCommon Li-Fraumeni syndrome 2 (LFS2) [MIM:609265] VAR_008555 commonName VAR_008555 VAR_008555 disease not phenotype-associated VAR_008578 commonName VAR_008578 VAR_008578 disease phenotype-associated VAR_008578 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008579 commonName VAR_008579 VAR_008579 disease phenotype-associated VAR_008579 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008580 commonName VAR_008580 VAR_008580 disease phenotype-associated VAR_008580 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008581 commonName VAR_008581 VAR_008581 disease phenotype-associated VAR_008581 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008582 commonName VAR_008582 VAR_008582 disease phenotype-associated VAR_008582 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008583 commonName VAR_008583 VAR_008583 disease phenotype-associated VAR_008583 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008584 commonName VAR_008584 VAR_008584 disease phenotype-associated VAR_008584 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008608 commonName VAR_008608 VAR_008608 disease phenotype-associated VAR_008608 phenoCommon Darier disease (DD) [MIM:124200] VAR_008609 commonName VAR_008609 VAR_008609 disease phenotype-associated VAR_008609 phenoCommon Darier disease (DD) [MIM:124200] VAR_008611 commonName VAR_008611 VAR_008611 disease phenotype-associated VAR_008611 phenoCommon Darier disease (DD) [MIM:124200] VAR_008612 commonName VAR_008612 VAR_008612 disease phenotype-associated VAR_008612 phenoCommon Darier disease (DD) [MIM:124200] VAR_008613 commonName VAR_008613 VAR_008613 disease phenotype-associated VAR_008613 phenoCommon Darier disease (DD) [MIM:124200] VAR_008614 commonName VAR_008614 VAR_008614 disease phenotype-associated VAR_008614 phenoCommon Darier disease (DD) [MIM:124200] VAR_008615 commonName VAR_008615 VAR_008615 disease phenotype-associated VAR_008615 phenoCommon Darier disease (DD) [MIM:124200] VAR_008616 commonName VAR_008616 VAR_008616 disease phenotype-associated VAR_008616 phenoCommon Darier disease (DD) [MIM:124200] VAR_008617 commonName VAR_008617 VAR_008617 disease phenotype-associated VAR_008617 phenoCommon Darier disease (DD) [MIM:124200] VAR_008618 commonName VAR_008618 VAR_008618 disease phenotype-associated VAR_008618 phenoCommon Darier disease (DD) [MIM:124200] VAR_008619 commonName VAR_008619 VAR_008619 disease phenotype-associated VAR_008619 phenoCommon Darier disease (DD) [MIM:124200] VAR_008620 commonName VAR_008620 VAR_008620 disease phenotype-associated VAR_008620 phenoCommon Darier disease (DD) [MIM:124200] VAR_008621 commonName VAR_008621 VAR_008621 disease phenotype-associated VAR_008621 phenoCommon Darier disease (DD) [MIM:124200] VAR_008622 commonName VAR_008622 VAR_008622 disease phenotype-associated VAR_008622 phenoCommon Darier disease (DD) [MIM:124200] VAR_008623 commonName VAR_008623 VAR_008623 disease phenotype-associated VAR_008623 phenoCommon Darier disease (DD) [MIM:124200] VAR_008624 commonName VAR_008624 VAR_008624 disease phenotype-associated VAR_008624 phenoCommon Darier disease (DD) [MIM:124200] VAR_008625 commonName VAR_008625 VAR_008625 disease phenotype-associated VAR_008625 phenoCommon Darier disease (DD) [MIM:124200] VAR_008626 commonName VAR_008626 VAR_008626 disease phenotype-associated VAR_008626 phenoCommon Darier disease (DD) [MIM:124200] VAR_008627 commonName VAR_008627 VAR_008627 disease phenotype-associated VAR_008627 phenoCommon Darier disease (DD) [MIM:124200] VAR_008629 commonName VAR_008629 VAR_008629 disease phenotype-associated VAR_008629 phenoCommon Darier disease (DD) [MIM:124200] VAR_008630 commonName VAR_008630 VAR_008630 disease phenotype-associated VAR_008630 phenoCommon Darier disease (DD) [MIM:124200] VAR_008631 commonName VAR_008631 VAR_008631 disease phenotype-associated VAR_008631 phenoCommon Darier disease (DD) [MIM:124200] VAR_008632 commonName VAR_008632 VAR_008632 disease phenotype-associated VAR_008632 phenoCommon Darier disease (DD) [MIM:124200] VAR_008633 commonName VAR_008633 VAR_008633 disease phenotype-associated VAR_008633 phenoCommon Darier disease (DD) [MIM:124200] VAR_008634 commonName VAR_008634 VAR_008634 disease phenotype-associated VAR_008634 phenoCommon Darier disease (DD) [MIM:124200] VAR_008635 commonName VAR_008635 VAR_008635 disease phenotype-associated VAR_008635 phenoCommon Darier disease (DD) [MIM:124200] VAR_008636 commonName VAR_008636 VAR_008636 disease phenotype-associated VAR_008636 phenoCommon Darier disease (DD) [MIM:124200] VAR_008637 commonName VAR_008637 VAR_008637 disease phenotype-associated VAR_008637 phenoCommon Darier disease (DD) [MIM:124200] VAR_008638 commonName VAR_008638 VAR_008638 disease phenotype-associated VAR_008638 phenoCommon Darier disease (DD) [MIM:124200] VAR_008639 commonName VAR_008639 VAR_008639 disease phenotype-associated VAR_008639 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_008640 commonName VAR_008640 VAR_008640 disease phenotype-associated VAR_008640 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_008641 commonName VAR_008641 VAR_008641 disease phenotype-associated VAR_008641 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_008642 commonName VAR_008642 VAR_008642 disease phenotype-associated VAR_008642 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_008643 commonName VAR_008643 VAR_008643 disease not phenotype-associated VAR_008644 commonName VAR_008644 VAR_008644 disease phenotype-associated VAR_008644 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_008645 commonName VAR_008645 VAR_008645 disease not phenotype-associated VAR_008646 commonName VAR_008646 VAR_008646 disease phenotype-associated VAR_008646 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_008647 commonName VAR_008647 VAR_008647 disease not phenotype-associated VAR_008648 commonName VAR_008648 VAR_008648 disease not phenotype-associated VAR_008649 commonName VAR_008649 VAR_008649 disease phenotype-associated VAR_008649 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_008650 commonName VAR_008650 VAR_008650 disease phenotype-associated VAR_008650 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_008651 commonName VAR_008651 VAR_008651 disease not phenotype-associated VAR_008652 commonName VAR_008652 VAR_008652 disease not phenotype-associated VAR_008653 commonName VAR_008653 VAR_008653 disease phenotype-associated VAR_008653 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_008654 commonName VAR_008654 VAR_008654 disease phenotype-associated VAR_008654 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_008655 commonName VAR_008655 VAR_008655 disease phenotype-associated VAR_008655 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_008656 commonName VAR_008656 VAR_008656 disease phenotype-associated VAR_008656 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_008658 commonName VAR_008658 VAR_008658 disease not phenotype-associated VAR_008671 commonName VAR_008671 VAR_008671 disease phenotype-associated VAR_008671 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_008672 commonName VAR_008672 VAR_008672 disease phenotype-associated VAR_008672 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_008673 commonName VAR_008673 VAR_008673 disease phenotype-associated VAR_008673 phenoCommon GM1-gangliosidosis type 3 (GM1G3) [MIM:230650] VAR_008674 commonName VAR_008674 VAR_008674 disease phenotype-associated VAR_008674 phenoCommon Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010] VAR_008675 commonName VAR_008675 VAR_008675 disease phenotype-associated VAR_008675 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_008676 commonName VAR_008676 VAR_008676 disease phenotype-associated VAR_008676 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_008677 commonName VAR_008677 VAR_008677 disease phenotype-associated VAR_008677 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_008678 commonName VAR_008678 VAR_008678 disease phenotype-associated VAR_008678 phenoCommon Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010] VAR_008679 commonName VAR_008679 VAR_008679 disease phenotype-associated VAR_008679 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_008680 commonName VAR_008680 VAR_008681 commonName VAR_008681 VAR_008681 disease not phenotype-associated VAR_008682 commonName VAR_008682 VAR_008682 disease phenotype-associated VAR_008682 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_008683 commonName VAR_008683 VAR_008683 disease phenotype-associated VAR_008683 phenoCommon GM1-gangliosidosis type 2 (GM1G2) [MIM:230600] VAR_008684 commonName VAR_008684 VAR_008684 disease phenotype-associated VAR_008684 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_008685 commonName VAR_008685 VAR_008685 disease phenotype-associated VAR_008685 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_008686 commonName VAR_008686 VAR_008686 disease phenotype-associated VAR_008686 phenoCommon GM1-gangliosidosis type 2 (GM1G2) [MIM:230600] VAR_008687 commonName VAR_008687 VAR_008687 disease not phenotype-associated VAR_008689 commonName VAR_008689 VAR_008689 disease phenotype-associated VAR_008689 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_008690 commonName VAR_008690 VAR_008690 disease phenotype-associated VAR_008690 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_008694 commonName VAR_008694 VAR_008694 disease phenotype-associated VAR_008694 phenoCommon Aniridia (AN) [MIM:106210] VAR_008695 commonName VAR_008695 VAR_008695 disease phenotype-associated VAR_008695 phenoCommon Aniridia (AN) [MIM:106210] VAR_008697 commonName VAR_008697 VAR_008697 disease phenotype-associated VAR_008697 phenoCommon Aniridia (AN) [MIM:106210] VAR_008698 commonName VAR_008698 VAR_008698 disease phenotype-associated VAR_008698 phenoCommon Aniridia (AN) [MIM:106210] VAR_008699 commonName VAR_008699 VAR_008699 disease phenotype-associated VAR_008699 phenoCommon Aniridia (AN) [MIM:106210] VAR_008700 commonName VAR_008700 VAR_008700 disease phenotype-associated VAR_008700 phenoCommon Peters anomaly (PAN) [MIM:604229] VAR_008701 commonName VAR_008701 VAR_008701 disease phenotype-associated VAR_008701 phenoCommon Aniridia (AN) [MIM:106210] VAR_008702 commonName VAR_008702 VAR_008702 disease phenotype-associated VAR_008702 phenoCommon Foveal hypoplasia (FOVHYP) [MIM:136520] VAR_008703 commonName VAR_008703 VAR_008703 disease phenotype-associated VAR_008703 phenoCommon Aniridia (AN) [MIM:106210] VAR_008704 commonName VAR_008704 VAR_008704 disease phenotype-associated VAR_008704 phenoCommon Aniridia (AN) [MIM:106210] VAR_008705 commonName VAR_008705 VAR_008705 disease phenotype-associated VAR_008705 phenoCommon Aniridia (AN) [MIM:106210] VAR_008706 commonName VAR_008706 VAR_008706 disease phenotype-associated VAR_008706 phenoCommon Aniridia (AN) [MIM:106210] VAR_008707 commonName VAR_008707 VAR_008707 disease phenotype-associated VAR_008707 phenoCommon Aniridia (AN) [MIM:106210] VAR_008708 commonName VAR_008708 VAR_008708 disease phenotype-associated VAR_008708 phenoCommon Aniridia (AN) [MIM:106210] VAR_008709 commonName VAR_008709 VAR_008709 disease phenotype-associated VAR_008709 phenoCommon Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544] VAR_008710 commonName VAR_008710 VAR_008710 disease phenotype-associated VAR_008710 phenoCommon Palmoplantar keratoderma with deafness (PPKDFN) [MIM:148350] VAR_008710 phenoCommon Vohwinkel syndrome (VS) [MIM:124500] VAR_008711 commonName VAR_008711 VAR_008711 disease phenotype-associated VAR_008711 phenoCommon Deafness autosomal dominant type 3B (DFNA3B) [MIM:612643] VAR_008712 commonName VAR_008712 VAR_008712 disease phenotype-associated VAR_008712 phenoCommon Hereditary diffuse gastric cancer (HDGC) [MIM:137215] VAR_008713 commonName VAR_008713 VAR_008713 disease phenotype-associated VAR_008713 phenoCommon Hereditary diffuse gastric cancer (HDGC) [MIM:137215] VAR_008714 commonName VAR_008714 VAR_008714 disease phenotype-associated VAR_008714 phenoCommon Leber congenital amaurosis type 7 (LCA7) [MIM:613829] VAR_008717 commonName VAR_008717 VAR_008717 disease phenotype-associated VAR_008717 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_008718 commonName VAR_008718 VAR_008718 disease phenotype-associated VAR_008718 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_008719 commonName VAR_008719 VAR_008719 disease phenotype-associated VAR_008719 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_008720 commonName VAR_008720 VAR_008720 disease phenotype-associated VAR_008720 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_008722 commonName VAR_008722 VAR_008722 disease phenotype-associated VAR_008722 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_008724 commonName VAR_008724 VAR_008724 disease phenotype-associated VAR_008724 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_008725 commonName VAR_008725 VAR_008725 disease phenotype-associated VAR_008725 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_008726 commonName VAR_008726 VAR_008726 disease phenotype-associated VAR_008726 phenoCommon Deafness autosomal dominant type 2A (DFNA2A) [MIM:600101] VAR_008727 commonName VAR_008727 VAR_008727 disease phenotype-associated VAR_008727 phenoCommon Deafness autosomal dominant type 2A (DFNA2A) [MIM:600101] VAR_008728 commonName VAR_008728 VAR_008728 disease phenotype-associated VAR_008728 phenoCommon Deafness autosomal dominant type 2A (DFNA2A) [MIM:600101] VAR_008729 commonName VAR_008729 VAR_008729 disease phenotype-associated VAR_008729 phenoCommon Hemochromatosis (HFE) [MIM:235200] VAR_008730 commonName VAR_008730 VAR_008730 disease phenotype-associated VAR_008730 phenoCommon Hemochromatosis (HFE) [MIM:235200] VAR_008731 commonName VAR_008731 VAR_008731 disease not phenotype-associated VAR_008734 commonName VAR_008734 VAR_008734 disease phenotype-associated VAR_008734 phenoCommon Bannayan-Zonana syndrome (BZS) [MIM:153480] VAR_008735 commonName VAR_008735 VAR_008735 disease phenotype-associated VAR_008735 phenoCommon Bannayan-Zonana syndrome (BZS) [MIM:153480] VAR_008736 commonName VAR_008736 VAR_008736 disease phenotype-associated VAR_008736 phenoCommon Bannayan-Zonana syndrome (BZS) [MIM:153480] VAR_008738 commonName VAR_008738 VAR_008738 disease phenotype-associated VAR_008738 phenoCommon Cowden disease (CD) [MIM:158350] VAR_008739 commonName VAR_008739 VAR_008739 disease phenotype-associated VAR_008739 phenoCommon Cowden disease (CD) [MIM:158350] VAR_008740 commonName VAR_008740 VAR_008740 disease phenotype-associated VAR_008740 phenoCommon Bannayan-Zonana syndrome (BZS) [MIM:153480] VAR_008740 phenoCommon Cowden disease (CD) [MIM:158350] VAR_008741 commonName VAR_008741 VAR_008741 disease phenotype-associated VAR_008741 phenoCommon Cowden disease (CD) [MIM:158350] VAR_008742 commonName VAR_008742 VAR_008742 disease phenotype-associated VAR_008742 phenoCommon Cowden disease (CD) [MIM:158350] VAR_008743 commonName VAR_008743 VAR_008743 disease phenotype-associated VAR_008743 phenoCommon Cowden disease (CD) [MIM:158350] VAR_008746 commonName VAR_008746 VAR_008746 disease phenotype-associated VAR_008746 phenoCommon Gerstmann-Straussler disease (GSD) [MIM:137440] VAR_008747 commonName VAR_008747 VAR_008747 disease not phenotype-associated VAR_008748 commonName VAR_008748 VAR_008749 commonName VAR_008749 VAR_008749 disease phenotype-associated VAR_008749 phenoCommon Creutzfeldt-Jakob disease (CJD) [MIM:123400] VAR_008749 phenoCommon High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD) VAR_008750 commonName VAR_008750 VAR_008750 disease phenotype-associated VAR_008750 phenoCommon Gerstmann-Straussler disease (GSD) [MIM:137440] VAR_008751 commonName VAR_008751 VAR_008751 disease phenotype-associated VAR_008751 phenoCommon Creutzfeldt-Jakob disease (CJD) [MIM:123400] VAR_008751 phenoCommon High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD) VAR_008752 commonName VAR_008752 VAR_008752 disease phenotype-associated VAR_008752 phenoCommon Creutzfeldt-Jakob disease (CJD) [MIM:123400] VAR_008752 phenoCommon High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD) VAR_008753 commonName VAR_008753 VAR_008753 disease phenotype-associated VAR_008753 phenoCommon Gerstmann-Straussler disease (GSD) [MIM:137440] VAR_008755 commonName VAR_008755 VAR_008755 disease not phenotype-associated VAR_008756 commonName VAR_008756 VAR_008756 disease not phenotype-associated VAR_008757 commonName VAR_008757 VAR_008757 disease not phenotype-associated VAR_008758 commonName VAR_008758 VAR_008758 disease not phenotype-associated VAR_008759 commonName VAR_008759 VAR_008760 commonName VAR_008760 VAR_008766 commonName VAR_008766 VAR_008766 disease not phenotype-associated VAR_008767 commonName VAR_008767 VAR_008768 commonName VAR_008768 VAR_008768 disease not phenotype-associated VAR_008769 commonName VAR_008769 VAR_008769 disease not phenotype-associated VAR_008770 commonName VAR_008770 VAR_008770 disease not phenotype-associated VAR_008771 commonName VAR_008771 VAR_008771 disease not phenotype-associated VAR_008772 commonName VAR_008772 VAR_008774 commonName VAR_008774 VAR_008774 disease not phenotype-associated VAR_008775 commonName VAR_008775 VAR_008775 disease not phenotype-associated VAR_008776 commonName VAR_008776 VAR_008776 disease not phenotype-associated VAR_008777 commonName VAR_008777 VAR_008777 disease not phenotype-associated VAR_008778 commonName VAR_008778 VAR_008778 disease not phenotype-associated VAR_008779 commonName VAR_008779 VAR_008780 commonName VAR_008780 VAR_008780 disease not phenotype-associated VAR_008781 commonName VAR_008781 VAR_008781 disease not phenotype-associated VAR_008782 commonName VAR_008782 VAR_008782 disease not phenotype-associated VAR_008783 commonName VAR_008783 VAR_008783 disease phenotype-associated VAR_008783 phenoCommon Breast cancer (BC) [MIM:114480] VAR_008784 commonName VAR_008784 VAR_008784 disease not phenotype-associated VAR_008785 commonName VAR_008785 VAR_008785 disease not phenotype-associated VAR_008786 commonName VAR_008786 VAR_008786 disease not phenotype-associated VAR_008787 commonName VAR_008787 VAR_008787 disease not phenotype-associated VAR_008788 commonName VAR_008788 VAR_008789 commonName VAR_008789 VAR_008790 comment Ovarian cancer VAR_008790 commonName VAR_008790 VAR_008791 commonName VAR_008791 VAR_008791 disease not phenotype-associated VAR_008792 commonName VAR_008792 VAR_008792 disease not phenotype-associated VAR_008793 commonName VAR_008793 VAR_008793 disease not phenotype-associated VAR_008794 commonName VAR_008794 VAR_008795 commonName VAR_008795 VAR_008795 disease not phenotype-associated VAR_008796 commonName VAR_008796 VAR_008796 disease not phenotype-associated VAR_008797 commonName VAR_008797 VAR_008797 disease not phenotype-associated VAR_008798 commonName VAR_008798 VAR_008798 disease not phenotype-associated VAR_008799 commonName VAR_008799 VAR_008799 disease not phenotype-associated VAR_008800 commonName VAR_008800 VAR_008800 disease not phenotype-associated VAR_008802 commonName VAR_008802 VAR_008802 disease not phenotype-associated VAR_008803 commonName VAR_008803 VAR_008803 disease phenotype-associated VAR_008803 phenoCommon Hailey-Hailey disease (HHD) [MIM:169600] VAR_008804 commonName VAR_008804 VAR_008804 disease phenotype-associated VAR_008804 phenoCommon Hailey-Hailey disease (HHD) [MIM:169600] VAR_008809 commonName VAR_008809 VAR_008809 disease phenotype-associated VAR_008809 phenoCommon Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600] VAR_008810 commonName VAR_008810 VAR_008810 disease phenotype-associated VAR_008810 phenoCommon Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600] VAR_008812 commonName VAR_008812 VAR_008812 disease phenotype-associated VAR_008812 phenoCommon Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300] VAR_008812 phenoCommon Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600] VAR_008813 commonName VAR_008813 VAR_008813 disease phenotype-associated VAR_008813 phenoCommon Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300] VAR_008813 phenoCommon Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600] VAR_008815 commonName VAR_008815 VAR_008815 disease phenotype-associated VAR_008815 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_008816 commonName VAR_008816 VAR_008816 disease not phenotype-associated VAR_008817 commonName VAR_008817 VAR_008817 disease phenotype-associated VAR_008817 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_008818 commonName VAR_008818 VAR_008818 disease not phenotype-associated VAR_008819 commonName VAR_008819 VAR_008819 disease not phenotype-associated VAR_008820 commonName VAR_008820 VAR_008820 disease phenotype-associated VAR_008820 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_008821 commonName VAR_008821 VAR_008821 disease phenotype-associated VAR_008821 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_008822 commonName VAR_008822 VAR_008822 disease phenotype-associated VAR_008822 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_008823 commonName VAR_008823 VAR_008823 disease not phenotype-associated VAR_008824 commonName VAR_008824 VAR_008824 disease not phenotype-associated VAR_008845 commonName VAR_008845 VAR_008845 disease phenotype-associated VAR_008845 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] VAR_008846 commonName VAR_008846 VAR_008846 disease phenotype-associated VAR_008846 phenoCommon Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] VAR_008848 commonName VAR_008848 VAR_008848 disease phenotype-associated VAR_008848 phenoCommon Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] VAR_008849 comment Colorectal cancer VAR_008849 commonName VAR_008849 VAR_008850 comment Colorectal cancer VAR_008850 commonName VAR_008850 VAR_008851 comment Colorectal cancer VAR_008851 commonName VAR_008851 VAR_008852 comment A colorectal cancer cell line VAR_008852 commonName VAR_008852 VAR_008853 commonName VAR_008853 VAR_008853 disease not phenotype-associated VAR_008855 commonName VAR_008855 VAR_008855 disease not phenotype-associated VAR_008857 commonName VAR_008857 VAR_008857 disease phenotype-associated VAR_008857 phenoCommon Bamforth-Lazarus syndrome (BLS) [MIM:241850] VAR_008858 commonName VAR_008858 VAR_008859 commonName VAR_008859 VAR_008859 disease not phenotype-associated VAR_008860 commonName VAR_008860 VAR_008860 disease not phenotype-associated VAR_008861 commonName VAR_008861 VAR_008861 disease not phenotype-associated VAR_008862 commonName VAR_008862 VAR_008862 disease phenotype-associated VAR_008862 phenoCommon Farber lipogranulomatosis (FL) [MIM:228000] VAR_008873 commonName VAR_008873 VAR_008873 disease not phenotype-associated VAR_008874 commonName VAR_008874 VAR_008874 disease phenotype-associated VAR_008874 phenoCommon Fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency (FIC) [MIM:604377] VAR_008875 commonName VAR_008875 VAR_008875 disease phenotype-associated VAR_008875 phenoCommon Fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency (FIC) [MIM:604377] VAR_008876 commonName VAR_008876 VAR_008876 disease phenotype-associated VAR_008876 phenoCommon Adrenoleukodystrophy neonatal (NALD) [MIM:202370] VAR_008877 commonName VAR_008877 VAR_008877 disease phenotype-associated VAR_008877 phenoCommon Adrenoleukodystrophy neonatal (NALD) [MIM:202370] VAR_008877 phenoCommon Infantile Refsum disease (IRD) [MIM:266510] VAR_008878 commonName VAR_008878 VAR_008878 disease phenotype-associated VAR_008878 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900] VAR_008882 commonName VAR_008882 VAR_008882 disease not phenotype-associated VAR_008883 commonName VAR_008883 VAR_008883 disease phenotype-associated VAR_008883 phenoCommon GABA transaminase deficiency (GABATD) [MIM:613163] VAR_008884 commonName VAR_008884 VAR_008884 disease not phenotype-associated VAR_008885 commonName VAR_008885 VAR_008885 disease not phenotype-associated VAR_008886 commonName VAR_008886 VAR_008886 disease phenotype-associated VAR_008886 phenoCommon Omenn syndrome (OS) [MIM:603554] VAR_008887 commonName VAR_008887 VAR_008887 disease phenotype-associated VAR_008887 phenoCommon Omenn syndrome (OS) [MIM:603554] VAR_008888 commonName VAR_008888 VAR_008888 disease phenotype-associated VAR_008888 phenoCommon Omenn syndrome (OS) [MIM:603554] VAR_008889 commonName VAR_008889 VAR_008889 disease phenotype-associated VAR_008889 phenoCommon Omenn syndrome (OS) [MIM:603554] VAR_008890 commonName VAR_008890 VAR_008890 disease phenotype-associated VAR_008890 phenoCommon Omenn syndrome (OS) [MIM:603554] VAR_008891 commonName VAR_008891 VAR_008891 disease phenotype-associated VAR_008891 phenoCommon Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650] VAR_008891 phenoCommon Omenn syndrome (OS) [MIM:603554] VAR_008892 commonName VAR_008892 VAR_008892 disease not phenotype-associated VAR_008893 commonName VAR_008893 VAR_008893 disease phenotype-associated VAR_008893 phenoCommon Omenn syndrome (OS) [MIM:603554] VAR_008894 commonName VAR_008894 VAR_008894 disease phenotype-associated VAR_008894 phenoCommon Omenn syndrome (OS) [MIM:603554] VAR_008895 commonName VAR_008895 VAR_008895 disease phenotype-associated VAR_008895 phenoCommon Omenn syndrome (OS) [MIM:603554] VAR_008896 commonName VAR_008896 VAR_008896 disease phenotype-associated VAR_008896 phenoCommon Omenn syndrome (OS) [MIM:603554] VAR_008897 commonName VAR_008897 VAR_008897 disease phenotype-associated VAR_008897 phenoCommon Jervell and Lange-Nielsen syndrome type 2 (JLNS2) [MIM:612347] VAR_008898 commonName VAR_008898 VAR_008898 disease phenotype-associated VAR_008898 phenoCommon Jervell and Lange-Nielsen syndrome type 2 (JLNS2) [MIM:612347] VAR_008899 commonName VAR_008899 VAR_008899 disease phenotype-associated VAR_008899 phenoCommon Jervell and Lange-Nielsen syndrome type 2 (JLNS2) [MIM:612347] VAR_008900 commonName VAR_008900 VAR_008900 disease phenotype-associated VAR_008900 phenoCommon Long QT syndrome type 5 (LQT5) [MIM:613695] VAR_008901 commonName VAR_008901 VAR_008901 disease phenotype-associated VAR_008901 phenoCommon Jervell and Lange-Nielsen syndrome type 2 (JLNS2) [MIM:612347] VAR_008901 phenoCommon Long QT syndrome type 5 (LQT5) [MIM:613695] VAR_008902 commonName VAR_008902 VAR_008902 disease not phenotype-associated VAR_008903 commonName VAR_008903 VAR_008903 disease phenotype-associated VAR_008903 phenoCommon Long QT syndrome type 5 (LQT5) [MIM:613695] VAR_008904 commonName VAR_008904 VAR_008904 disease phenotype-associated VAR_008904 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710] VAR_008905 commonName VAR_008905 VAR_008905 disease not phenotype-associated VAR_008906 commonName VAR_008906 VAR_008906 disease not phenotype-associated VAR_008907 commonName VAR_008907 VAR_008907 disease phenotype-associated VAR_008907 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008908 commonName VAR_008908 VAR_008908 disease phenotype-associated VAR_008908 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008909 commonName VAR_008909 VAR_008909 disease phenotype-associated VAR_008909 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008910 commonName VAR_008910 VAR_008910 disease phenotype-associated VAR_008910 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008911 commonName VAR_008911 VAR_008911 disease phenotype-associated VAR_008911 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008912 commonName VAR_008912 VAR_008912 disease phenotype-associated VAR_008912 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008913 commonName VAR_008913 VAR_008913 disease phenotype-associated VAR_008913 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008914 commonName VAR_008914 VAR_008914 disease phenotype-associated HbVar.675 protEffect HBD 117(G18) Arg>Cys VAR_008914 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008915 commonName VAR_008915 VAR_008915 disease phenotype-associated VAR_008915 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008916 commonName VAR_008916 VAR_008916 disease phenotype-associated VAR_008916 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008917 commonName VAR_008917 VAR_008917 disease phenotype-associated VAR_008917 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008918 commonName VAR_008918 VAR_008918 disease phenotype-associated VAR_008918 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008919 commonName VAR_008919 VAR_008919 disease phenotype-associated VAR_008919 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008920 commonName VAR_008920 VAR_008920 disease phenotype-associated VAR_008920 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008921 commonName VAR_008921 VAR_008921 disease phenotype-associated VAR_008921 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008922 commonName VAR_008922 VAR_008922 disease phenotype-associated VAR_008922 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008923 commonName VAR_008923 VAR_008923 disease phenotype-associated VAR_008923 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008924 commonName VAR_008924 VAR_008924 disease phenotype-associated VAR_008924 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008925 commonName VAR_008925 VAR_008925 disease phenotype-associated VAR_008925 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008926 commonName VAR_008926 VAR_008926 disease phenotype-associated VAR_008926 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008927 commonName VAR_008927 VAR_008927 disease phenotype-associated VAR_008927 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008928 commonName VAR_008928 VAR_008928 disease phenotype-associated VAR_008928 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008929 commonName VAR_008929 VAR_008929 disease phenotype-associated VAR_008929 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008930 commonName VAR_008930 VAR_008930 disease phenotype-associated VAR_008930 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008931 commonName VAR_008931 VAR_008931 disease phenotype-associated VAR_008931 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008932 commonName VAR_008932 VAR_008932 disease phenotype-associated VAR_008932 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008933 commonName VAR_008933 VAR_008933 disease phenotype-associated VAR_008933 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008934 commonName VAR_008934 VAR_008934 disease phenotype-associated VAR_008934 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008935 commonName VAR_008935 VAR_008935 disease phenotype-associated VAR_008935 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008936 commonName VAR_008936 VAR_008936 disease phenotype-associated VAR_008936 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008937 commonName VAR_008937 VAR_008937 disease phenotype-associated VAR_008937 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008938 commonName VAR_008938 VAR_008938 disease phenotype-associated VAR_008938 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_008939 commonName VAR_008939 VAR_008939 disease phenotype-associated VAR_008939 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_008940 commonName VAR_008940 VAR_008940 disease phenotype-associated VAR_008940 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_008941 commonName VAR_008941 VAR_008941 disease phenotype-associated VAR_008941 phenoCommon Jervell and Lange-Nielsen syndrome type 1 (JLNS1) [MIM:220400] VAR_008942 commonName VAR_008942 VAR_008942 disease phenotype-associated VAR_008942 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_008943 commonName VAR_008943 VAR_008943 disease phenotype-associated VAR_008943 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_008944 commonName VAR_008944 VAR_008944 disease phenotype-associated VAR_008944 phenoCommon Jervell and Lange-Nielsen syndrome type 1 (JLNS1) [MIM:220400] VAR_008945 commonName VAR_008945 VAR_008945 disease phenotype-associated VAR_008945 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_008946 commonName VAR_008946 VAR_008946 disease phenotype-associated VAR_008946 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_008947 commonName VAR_008947 VAR_008947 disease phenotype-associated VAR_008947 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_008948 commonName VAR_008948 VAR_008948 disease phenotype-associated VAR_008948 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_008955 commonName VAR_008955 VAR_008955 disease not phenotype-associated VAR_008956 commonName VAR_008956 VAR_008956 disease phenotype-associated VAR_008956 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_008957 commonName VAR_008957 VAR_008957 disease not phenotype-associated VAR_008958 commonName VAR_008958 VAR_008958 disease phenotype-associated VAR_008958 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_008959 commonName VAR_008959 VAR_008959 disease phenotype-associated VAR_008959 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_008959 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_008960 commonName VAR_008960 VAR_008960 disease phenotype-associated VAR_008960 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008961 commonName VAR_008961 VAR_008961 disease phenotype-associated VAR_008961 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008962 commonName VAR_008962 VAR_008962 disease phenotype-associated VAR_008962 phenoCommon X-linked agammaglobulinemia (XLA) [MIM:300755] VAR_008966 commonName VAR_008966 VAR_008966 disease not phenotype-associated VAR_008967 commonName VAR_008967 VAR_008967 disease phenotype-associated VAR_008967 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_008968 commonName VAR_008968 VAR_008968 disease phenotype-associated VAR_008968 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_008969 commonName VAR_008969 VAR_008969 disease phenotype-associated VAR_008969 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_008970 commonName VAR_008970 VAR_008970 disease phenotype-associated VAR_008970 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_008971 commonName VAR_008971 VAR_008971 disease phenotype-associated VAR_008971 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_008972 commonName VAR_008972 VAR_008972 disease phenotype-associated VAR_008972 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_008973 commonName VAR_008973 VAR_008973 disease phenotype-associated VAR_008973 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_008974 commonName VAR_008974 VAR_008974 disease phenotype-associated VAR_008974 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_008975 commonName VAR_008975 VAR_008975 disease phenotype-associated VAR_008975 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_008976 commonName VAR_008976 VAR_008976 disease phenotype-associated VAR_008976 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_008976 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_008977 commonName VAR_008977 VAR_008977 disease phenotype-associated VAR_008977 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_008978 commonName VAR_008978 VAR_008978 disease phenotype-associated VAR_008978 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_008979 commonName VAR_008979 VAR_008979 disease phenotype-associated VAR_008979 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_008980 commonName VAR_008980 VAR_008980 disease phenotype-associated VAR_008980 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_008982 commonName VAR_008982 VAR_008982 disease phenotype-associated VAR_008982 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_008983 commonName VAR_008983 VAR_008983 disease phenotype-associated VAR_008983 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_008984 commonName VAR_008984 VAR_008984 disease phenotype-associated VAR_008984 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_008985 commonName VAR_008985 VAR_008985 disease phenotype-associated VAR_008985 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_008986 commonName VAR_008986 VAR_008986 disease phenotype-associated VAR_008986 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_008987 commonName VAR_008987 VAR_008987 disease phenotype-associated VAR_008987 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_008988 commonName VAR_008988 VAR_008988 disease phenotype-associated VAR_008988 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_008989 commonName VAR_008989 VAR_008989 disease phenotype-associated VAR_008989 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_008990 commonName VAR_008990 VAR_008990 disease phenotype-associated VAR_008990 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_008991 commonName VAR_008991 VAR_008991 disease not phenotype-associated VAR_008992 commonName VAR_008992 VAR_008992 disease not phenotype-associated VAR_008993 commonName VAR_008993 VAR_008993 disease not phenotype-associated VAR_008995 commonName VAR_008995 VAR_008995 disease phenotype-associated VAR_008995 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_008996 commonName VAR_008996 VAR_008996 disease phenotype-associated VAR_008996 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_008998 commonName VAR_008998 VAR_008998 disease phenotype-associated VAR_008998 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_008999 commonName VAR_008999 VAR_008999 disease phenotype-associated VAR_008999 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_009001 commonName VAR_009001 VAR_009001 disease phenotype-associated VAR_009001 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_009002 commonName VAR_009002 VAR_009002 disease phenotype-associated VAR_009002 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_009004 commonName VAR_009004 VAR_009004 disease phenotype-associated VAR_009004 phenoCommon Wilson disease (WD) [MIM:277900] VAR_009006 commonName VAR_009006 VAR_009006 disease phenotype-associated VAR_009006 phenoCommon Wilson disease (WD) [MIM:277900] VAR_009007 commonName VAR_009007 VAR_009007 disease phenotype-associated VAR_009007 phenoCommon Wilson disease (WD) [MIM:277900] VAR_009033 commonName VAR_009033 VAR_009033 disease phenotype-associated VAR_009033 phenoCommon Gaucher disease type 2 (GD2) [MIM:230900] VAR_009034 commonName VAR_009034 VAR_009034 disease phenotype-associated VAR_009034 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_009035 commonName VAR_009035 VAR_009035 disease phenotype-associated VAR_009035 phenoCommon Gaucher disease type 1 (GD1) [MIM:230800] VAR_009035 phenoCommon Gaucher disease type 2 (GD2) [MIM:230900] VAR_009036 commonName VAR_009036 VAR_009036 disease phenotype-associated VAR_009036 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_009037 commonName VAR_009037 VAR_009037 disease phenotype-associated VAR_009037 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_009038 commonName VAR_009038 VAR_009038 disease phenotype-associated VAR_009038 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_009039 commonName VAR_009039 VAR_009039 disease phenotype-associated VAR_009039 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_009040 commonName VAR_009040 VAR_009040 disease phenotype-associated VAR_009040 phenoCommon Gaucher disease type 1 (GD1) [MIM:230800] VAR_009041 commonName VAR_009041 VAR_009041 disease phenotype-associated VAR_009041 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_009042 commonName VAR_009042 VAR_009042 disease phenotype-associated VAR_009042 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_009043 commonName VAR_009043 VAR_009043 disease phenotype-associated VAR_009043 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_009044 commonName VAR_009044 VAR_009045 commonName VAR_009045 VAR_009045 disease phenotype-associated VAR_009045 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_009046 commonName VAR_009046 VAR_009046 disease phenotype-associated VAR_009046 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_009047 commonName VAR_009047 VAR_009047 disease phenotype-associated VAR_009047 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_009048 commonName VAR_009048 VAR_009051 commonName VAR_009051 VAR_009051 disease phenotype-associated VAR_009051 phenoCommon Familial Mediterranean fever autosomal dominant (ADFMF) [MIM:134610] VAR_009051 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_009052 commonName VAR_009052 VAR_009052 disease phenotype-associated VAR_009052 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_009053 commonName VAR_009053 VAR_009053 disease not phenotype-associated VAR_009054 commonName VAR_009054 VAR_009054 disease phenotype-associated VAR_009054 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_009055 commonName VAR_009055 VAR_009055 disease phenotype-associated VAR_009055 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_009056 commonName VAR_009056 VAR_009056 disease phenotype-associated VAR_009056 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_009057 commonName VAR_009057 VAR_009057 disease phenotype-associated VAR_009057 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_009059 commonName VAR_009059 VAR_009059 disease phenotype-associated VAR_009059 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_009061 commonName VAR_009061 VAR_009061 disease phenotype-associated VAR_009061 phenoCommon Familial Mediterranean fever autosomal dominant (ADFMF) [MIM:134610] VAR_009061 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_009062 commonName VAR_009062 VAR_009062 disease phenotype-associated VAR_009062 phenoCommon Familial Mediterranean fever autosomal dominant (ADFMF) [MIM:134610] VAR_009062 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_009064 commonName VAR_009064 VAR_009064 disease phenotype-associated VAR_009064 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_009065 commonName VAR_009065 VAR_009065 disease phenotype-associated VAR_009065 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_009066 commonName VAR_009066 VAR_009067 commonName VAR_009067 VAR_009067 disease phenotype-associated VAR_009067 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_009069 commonName VAR_009069 VAR_009069 disease not phenotype-associated VAR_009070 commonName VAR_009070 VAR_009070 disease not phenotype-associated VAR_009071 commonName VAR_009071 VAR_009071 disease not phenotype-associated VAR_009072 commonName VAR_009072 VAR_009072 disease not phenotype-associated VAR_009073 commonName VAR_009073 VAR_009073 disease not phenotype-associated VAR_009074 commonName VAR_009074 VAR_009074 disease not phenotype-associated VAR_009078 commonName VAR_009078 VAR_009078 disease phenotype-associated VAR_009078 phenoCommon Hirschsprung disease type 4 (HSCR4) [MIM:613712] VAR_009079 commonName VAR_009079 VAR_009079 disease phenotype-associated VAR_009079 phenoCommon Hirschsprung disease type 4 (HSCR4) [MIM:613712] VAR_009080 commonName VAR_009080 VAR_009080 disease phenotype-associated VAR_009080 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054] VAR_009082 commonName VAR_009082 VAR_009082 disease phenotype-associated VAR_009082 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054] VAR_009083 commonName VAR_009083 VAR_009083 disease phenotype-associated VAR_009083 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054] VAR_009084 commonName VAR_009084 VAR_009084 disease phenotype-associated VAR_009084 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054] VAR_009085 commonName VAR_009085 VAR_009085 disease phenotype-associated VAR_009085 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054] VAR_009086 commonName VAR_009086 VAR_009086 disease phenotype-associated VAR_009086 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054] VAR_009087 commonName VAR_009087 VAR_009087 disease phenotype-associated VAR_009087 phenoCommon Propionic acidemia type I (PA-1) [MIM:606054] VAR_009088 commonName VAR_009088 VAR_009088 disease phenotype-associated VAR_009088 phenoCommon Propionic acidemia type I (PA-1) [MIM:606054] VAR_009089 commonName VAR_009089 VAR_009089 disease phenotype-associated VAR_009089 phenoCommon Propionic acidemia type I (PA-1) [MIM:606054] VAR_009090 commonName VAR_009090 VAR_009090 disease phenotype-associated VAR_009090 phenoCommon Propionic acidemia type I (PA-1) [MIM:606054] VAR_009091 commonName VAR_009091 VAR_009091 disease phenotype-associated VAR_009091 phenoCommon Propionic acidemia type I (PA-1) [MIM:606054] VAR_009092 commonName VAR_009092 VAR_009092 disease phenotype-associated VAR_009092 phenoCommon Propionic acidemia type I (PA-1) [MIM:606054] VAR_009093 commonName VAR_009093 VAR_009093 disease phenotype-associated VAR_009093 phenoCommon Propionic acidemia type I (PA-1) [MIM:606054] VAR_009094 commonName VAR_009094 VAR_009094 disease phenotype-associated VAR_009094 phenoCommon Propionic acidemia type I (PA-1) [MIM:606054] VAR_009095 commonName VAR_009095 VAR_009095 disease phenotype-associated VAR_009095 phenoCommon Propionic acidemia type I (PA-1) [MIM:606054] VAR_009096 commonName VAR_009096 VAR_009096 disease phenotype-associated VAR_009096 phenoCommon Propionic acidemia type I (PA-1) [MIM:606054] VAR_009097 commonName VAR_009097 VAR_009097 disease phenotype-associated VAR_009097 phenoCommon Propionic acidemia type I (PA-1) [MIM:606054] VAR_009098 commonName VAR_009098 VAR_009098 disease not phenotype-associated VAR_009099 commonName VAR_009099 VAR_009099 disease phenotype-associated VAR_009099 phenoCommon Propionic acidemia type I (PA-1) [MIM:606054] VAR_009100 commonName VAR_009100 VAR_009100 disease phenotype-associated VAR_009100 phenoCommon Propionic acidemia type I (PA-1) [MIM:606054] VAR_009101 commonName VAR_009101 VAR_009101 disease phenotype-associated VAR_009101 phenoCommon Propionic acidemia type I (PA-1) [MIM:606054] VAR_009103 commonName VAR_009103 VAR_009103 disease phenotype-associated VAR_009103 phenoCommon Hepatoerythropoietic porphyria (HEP) [MIM:176100] VAR_009104 commonName VAR_009104 VAR_009104 disease phenotype-associated VAR_009104 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100] VAR_009104 phenoCommon Hepatoerythropoietic porphyria (HEP) [MIM:176100] VAR_009105 commonName VAR_009105 VAR_009105 disease phenotype-associated VAR_009105 phenoCommon Hepatoerythropoietic porphyria (HEP) [MIM:176100] VAR_009106 commonName VAR_009106 VAR_009106 disease phenotype-associated VAR_009106 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100] VAR_009107 commonName VAR_009107 VAR_009107 disease phenotype-associated VAR_009107 phenoCommon Hepatoerythropoietic porphyria (HEP) [MIM:176100] VAR_009108 commonName VAR_009108 VAR_009108 disease phenotype-associated VAR_009108 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100] VAR_009109 commonName VAR_009109 VAR_009109 disease phenotype-associated VAR_009109 phenoCommon Wolfram syndrome type 1 (WFS1) [MIM:222300] VAR_009110 commonName VAR_009110 VAR_009110 disease phenotype-associated VAR_009110 phenoCommon Wolfram syndrome type 1 (WFS1) [MIM:222300] VAR_009111 commonName VAR_009111 VAR_009111 disease phenotype-associated VAR_009111 phenoCommon Wolfram syndrome type 1 (WFS1) [MIM:222300] VAR_009114 commonName VAR_009114 VAR_009114 disease phenotype-associated VAR_009114 phenoCommon Wolfram syndrome type 1 (WFS1) [MIM:222300] VAR_009116 commonName VAR_009116 VAR_009116 disease phenotype-associated VAR_009116 phenoCommon Wolfram syndrome type 1 (WFS1) [MIM:222300] VAR_009117 commonName VAR_009117 VAR_009117 disease phenotype-associated VAR_009117 phenoCommon Wolfram syndrome type 1 (WFS1) [MIM:222300] VAR_009120 commonName VAR_009120 VAR_009120 disease phenotype-associated VAR_009120 phenoCommon Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300] VAR_009121 commonName VAR_009121 VAR_009121 disease phenotype-associated VAR_009121 phenoCommon Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300] VAR_009122 commonName VAR_009122 VAR_009122 disease not phenotype-associated VAR_009123 commonName VAR_009123 VAR_009123 disease phenotype-associated VAR_009123 phenoCommon Neurofibromatosis 2 (NF2) [MIM:101000] VAR_009124 commonName VAR_009124 VAR_009124 disease not phenotype-associated VAR_009125 commonName VAR_009125 VAR_009125 disease not phenotype-associated VAR_009126 commonName VAR_009126 VAR_009126 disease not phenotype-associated VAR_009127 commonName VAR_009127 VAR_009127 disease not phenotype-associated VAR_009129 commonName VAR_009129 VAR_009129 disease phenotype-associated VAR_009129 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000] VAR_009130 commonName VAR_009130 VAR_009130 disease phenotype-associated VAR_009130 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000] VAR_009131 commonName VAR_009131 VAR_009131 disease phenotype-associated VAR_009131 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000] VAR_009132 commonName VAR_009132 VAR_009132 disease not phenotype-associated VAR_009133 commonName VAR_009133 VAR_009133 disease not phenotype-associated VAR_009134 commonName VAR_009134 VAR_009134 disease phenotype-associated VAR_009134 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000] VAR_009135 commonName VAR_009135 VAR_009135 disease phenotype-associated VAR_009135 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000] VAR_009136 commonName VAR_009136 VAR_009136 disease not phenotype-associated VAR_009137 commonName VAR_009137 VAR_009137 disease not phenotype-associated VAR_009138 commonName VAR_009138 VAR_009138 disease phenotype-associated VAR_009138 phenoCommon Bloom syndrome (BLM) [MIM:210900] VAR_009139 commonName VAR_009139 VAR_009139 disease phenotype-associated VAR_009139 phenoCommon Bloom syndrome (BLM) [MIM:210900] VAR_009140 commonName VAR_009140 VAR_009140 disease phenotype-associated VAR_009140 phenoCommon Bloom syndrome (BLM) [MIM:210900] VAR_009141 commonName VAR_009141 VAR_009141 disease phenotype-associated VAR_009141 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_009142 commonName VAR_009142 VAR_009142 disease phenotype-associated VAR_009142 phenoCommon Von Willebrand disease type 3 (VWD3) [MIM:277480] VAR_009143 commonName VAR_009143 VAR_009143 disease phenotype-associated VAR_009143 phenoCommon Von Willebrand disease type 3 (VWD3) [MIM:277480] VAR_009144 commonName VAR_009144 VAR_009144 disease phenotype-associated VAR_009144 phenoCommon Von Willebrand disease type 3 (VWD3) [MIM:277480] VAR_009145 commonName VAR_009145 VAR_009145 disease not phenotype-associated VAR_009146 commonName VAR_009146 VAR_009146 disease phenotype-associated VAR_009146 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] VAR_009147 commonName VAR_009147 VAR_009147 disease phenotype-associated VAR_009147 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] VAR_009148 commonName VAR_009148 VAR_009148 disease phenotype-associated VAR_009148 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] VAR_009150 commonName VAR_009150 VAR_009150 disease phenotype-associated VAR_009150 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] VAR_009151 commonName VAR_009151 VAR_009151 disease phenotype-associated VAR_009151 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] VAR_009152 commonName VAR_009152 VAR_009152 disease phenotype-associated VAR_009152 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] VAR_009153 commonName VAR_009153 VAR_009153 disease phenotype-associated VAR_009153 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] VAR_009154 commonName VAR_009154 VAR_009154 disease phenotype-associated VAR_009154 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] VAR_009155 commonName VAR_009155 VAR_009155 disease phenotype-associated VAR_009155 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] VAR_009156 commonName VAR_009156 VAR_009156 disease phenotype-associated VAR_009156 phenoCommon X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310] VAR_009157 commonName VAR_009157 VAR_009157 disease not phenotype-associated VAR_009158 commonName VAR_009158 VAR_009158 disease phenotype-associated VAR_009158 phenoCommon Cataract zonular pulverulent cataract type 3 (CZP3) [MIM:601885] VAR_009159 commonName VAR_009159 VAR_009159 disease not phenotype-associated VAR_009160 commonName VAR_009160 VAR_009160 disease not phenotype-associated VAR_009161 commonName VAR_009161 VAR_009161 disease not phenotype-associated VAR_009162 commonName VAR_009162 VAR_009162 disease not phenotype-associated VAR_009163 commonName VAR_009163 VAR_009163 disease phenotype-associated VAR_009163 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_009164 commonName VAR_009164 VAR_009164 disease phenotype-associated VAR_009164 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_009165 commonName VAR_009165 VAR_009165 disease phenotype-associated VAR_009165 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_009166 commonName VAR_009166 VAR_009166 disease phenotype-associated VAR_009166 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_009167 commonName VAR_009167 VAR_009167 disease phenotype-associated VAR_009167 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_009168 commonName VAR_009168 VAR_009168 disease phenotype-associated VAR_009168 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_009169 commonName VAR_009169 VAR_009169 disease phenotype-associated VAR_009169 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_009170 commonName VAR_009170 VAR_009170 disease phenotype-associated VAR_009170 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_009172 commonName VAR_009172 VAR_009172 disease phenotype-associated VAR_009172 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_009179 commonName VAR_009179 VAR_009179 disease phenotype-associated VAR_009179 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_009180 commonName VAR_009180 VAR_009180 disease phenotype-associated VAR_009180 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_009182 commonName VAR_009182 VAR_009182 disease phenotype-associated VAR_009182 phenoCommon Incontinentia pigmenti (IP) [MIM:308300] VAR_009183 commonName VAR_009183 VAR_009183 disease phenotype-associated VAR_009183 phenoCommon Palmoplantar keratoderma non-epidermolytic focal (FNEPPK) [MIM:613000] VAR_009184 commonName VAR_009184 VAR_009184 disease phenotype-associated VAR_009184 phenoCommon Palmoplantar keratoderma non-epidermolytic focal (FNEPPK) [MIM:613000] VAR_009185 commonName VAR_009185 VAR_009185 disease phenotype-associated VAR_009185 phenoCommon Ichthyosis bullosa of Siemens (IBS) [MIM:146800] VAR_009186 commonName VAR_009186 VAR_009186 disease phenotype-associated VAR_009186 phenoCommon Ichthyosis bullosa of Siemens (IBS) [MIM:146800] VAR_009187 commonName VAR_009187 VAR_009187 disease phenotype-associated VAR_009187 phenoCommon Ichthyosis bullosa of Siemens (IBS) [MIM:146800] VAR_009189 commonName VAR_009189 VAR_009189 disease phenotype-associated VAR_009189 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419] VAR_009190 commonName VAR_009190 VAR_009190 disease not phenotype-associated VAR_009191 commonName VAR_009191 VAR_009191 disease not phenotype-associated VAR_009192 commonName VAR_009192 VAR_009192 disease not phenotype-associated VAR_009195 commonName VAR_009195 VAR_009195 disease phenotype-associated VAR_009195 phenoCommon Polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:613095] VAR_009196 commonName VAR_009196 VAR_009196 disease phenotype-associated VAR_009196 phenoCommon Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] VAR_009197 commonName VAR_009197 VAR_009197 disease phenotype-associated VAR_009197 phenoCommon Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] VAR_009202 commonName VAR_009202 VAR_009202 disease phenotype-associated VAR_009202 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_009203 commonName VAR_009203 VAR_009203 disease phenotype-associated VAR_009203 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_009204 commonName VAR_009204 VAR_009204 disease phenotype-associated VAR_009204 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_009205 commonName VAR_009205 VAR_009205 disease phenotype-associated VAR_009205 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_009206 commonName VAR_009206 VAR_009206 disease phenotype-associated VAR_009206 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_009207 commonName VAR_009207 VAR_009207 disease phenotype-associated VAR_009207 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_009208 commonName VAR_009208 VAR_009208 disease phenotype-associated VAR_009208 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_009209 commonName VAR_009209 VAR_009209 disease phenotype-associated VAR_009209 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_009210 commonName VAR_009210 VAR_009210 disease phenotype-associated VAR_009210 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_009211 commonName VAR_009211 VAR_009211 disease phenotype-associated VAR_009211 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_009212 commonName VAR_009212 VAR_009212 disease phenotype-associated VAR_009212 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_009213 commonName VAR_009213 VAR_009213 disease phenotype-associated VAR_009213 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_009214 commonName VAR_009214 VAR_009214 disease phenotype-associated VAR_009214 phenoCommon Alzheimer disease type 4 (AD4) [MIM:606889] VAR_009215 commonName VAR_009215 VAR_009215 disease phenotype-associated VAR_009215 phenoCommon Alzheimer disease type 4 (AD4) [MIM:606889] VAR_009217 commonName VAR_009217 VAR_009217 disease phenotype-associated VAR_009217 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_009218 commonName VAR_009218 VAR_009218 disease phenotype-associated VAR_009218 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_009219 commonName VAR_009219 VAR_009219 disease phenotype-associated VAR_009219 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_009230 commonName VAR_009230 VAR_009230 disease not phenotype-associated VAR_009231 commonName VAR_009231 VAR_009231 disease phenotype-associated VAR_009231 phenoCommon Glycogen storage disease type 3 (GSD3) [MIM:232400] VAR_009232 commonName VAR_009232 VAR_009232 disease phenotype-associated VAR_009232 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_009233 commonName VAR_009233 VAR_009233 disease phenotype-associated VAR_009233 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_009234 commonName VAR_009234 VAR_009234 disease phenotype-associated VAR_009234 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_009235 commonName VAR_009235 VAR_009235 disease phenotype-associated VAR_009235 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_009237 commonName VAR_009237 VAR_009237 disease phenotype-associated VAR_009237 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_009238 commonName VAR_009238 VAR_009238 disease phenotype-associated VAR_009238 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_009239 commonName VAR_009239 VAR_009239 disease phenotype-associated VAR_009239 phenoCommon Hyperphenylalaninemia (HPA) [MIM:261600] VAR_009240 commonName VAR_009240 VAR_009240 disease phenotype-associated VAR_009240 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_009241 commonName VAR_009241 VAR_009241 disease phenotype-associated VAR_009241 phenoCommon Hyperphenylalaninemia (HPA) [MIM:261600] VAR_009242 commonName VAR_009242 VAR_009242 disease phenotype-associated VAR_009242 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_009243 commonName VAR_009243 VAR_009243 disease phenotype-associated VAR_009243 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_009244 commonName VAR_009244 VAR_009244 disease phenotype-associated VAR_009244 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_009245 commonName VAR_009245 VAR_009245 disease phenotype-associated VAR_009245 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_009246 commonName VAR_009246 VAR_009246 disease phenotype-associated VAR_009246 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_009247 commonName VAR_009247 VAR_009247 disease phenotype-associated VAR_009247 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_009248 commonName VAR_009248 VAR_009248 disease phenotype-associated VAR_009248 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_009249 commonName VAR_009249 VAR_009249 disease phenotype-associated VAR_009249 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_009250 commonName VAR_009250 VAR_009250 disease phenotype-associated VAR_009250 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_009251 commonName VAR_009251 VAR_009251 disease phenotype-associated VAR_009251 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_009252 commonName VAR_009252 VAR_009252 disease phenotype-associated VAR_009252 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_009253 commonName VAR_009253 VAR_009253 disease phenotype-associated VAR_009253 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_009254 commonName VAR_009254 VAR_009254 disease phenotype-associated VAR_009254 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_009255 commonName VAR_009255 VAR_009255 disease phenotype-associated VAR_009255 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_009256 commonName VAR_009256 VAR_009256 disease phenotype-associated VAR_009256 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_009257 commonName VAR_009257 VAR_009257 disease phenotype-associated VAR_009257 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_009258 commonName VAR_009258 VAR_009258 disease phenotype-associated VAR_009258 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_009259 commonName VAR_009259 VAR_009259 disease phenotype-associated VAR_009259 phenoCommon Mental retardation X-linked type 58 (MRX58) [MIM:300210] VAR_009260 commonName VAR_009260 VAR_009260 disease not phenotype-associated VAR_009261 commonName VAR_009261 VAR_009261 disease not phenotype-associated VAR_009262 commonName VAR_009262 VAR_009262 disease not phenotype-associated VAR_009263 commonName VAR_009263 VAR_009263 disease not phenotype-associated VAR_009264 commonName VAR_009264 VAR_009264 disease phenotype-associated VAR_009264 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] VAR_009264 phenoCommon Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240] VAR_009266 commonName VAR_009266 VAR_009266 disease phenotype-associated VAR_009266 phenoCommon Enhanced S cone syndrome (ESCS) [MIM:268100] VAR_009267 commonName VAR_009267 VAR_009267 disease phenotype-associated VAR_009267 phenoCommon Enhanced S cone syndrome (ESCS) [MIM:268100] VAR_009268 commonName VAR_009268 VAR_009268 disease phenotype-associated VAR_009268 phenoCommon Retinitis pigmentosa type 27 (RP27) [MIM:613750] VAR_009270 commonName VAR_009270 VAR_009270 disease phenotype-associated VAR_009270 phenoCommon Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762] VAR_009271 commonName VAR_009271 VAR_009271 disease phenotype-associated VAR_009271 phenoCommon Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762] VAR_009272 commonName VAR_009272 VAR_009272 disease not phenotype-associated VAR_009273 commonName VAR_009273 VAR_009273 disease phenotype-associated VAR_009273 phenoCommon Retinitis punctata albescens (RPA) [MIM:136880] VAR_009275 commonName VAR_009275 VAR_009275 disease phenotype-associated VAR_009275 phenoCommon Norrie disease (ND) [MIM:310600] VAR_009276 commonName VAR_009276 VAR_009276 disease phenotype-associated VAR_009276 phenoCommon Retinol-binding protein deficiency (RBP deficiency) [MIM:180250] VAR_009277 commonName VAR_009277 VAR_009277 disease phenotype-associated VAR_009277 phenoCommon Retinol-binding protein deficiency (RBP deficiency) [MIM:180250] VAR_009279 commonName VAR_009279 VAR_009279 disease phenotype-associated VAR_009279 phenoCommon Congenital stationary night blindness autosomal dominant type 3 (CSNBAD3) [MIM:610444] VAR_009280 commonName VAR_009280 VAR_009280 disease not phenotype-associated VAR_009281 commonName VAR_009281 VAR_009281 disease not phenotype-associated VAR_009282 commonName VAR_009282 VAR_009282 disease not phenotype-associated VAR_009283 commonName VAR_009283 VAR_009283 disease phenotype-associated VAR_009283 phenoCommon Retinitis pigmentosa type 40 (RP40) [MIM:613801] VAR_009284 commonName VAR_009284 VAR_009284 disease not phenotype-associated VAR_009285 commonName VAR_009285 VAR_009285 disease not phenotype-associated VAR_009286 commonName VAR_009286 VAR_009286 disease phenotype-associated VAR_009286 phenoCommon Retinitis pigmentosa type 40 (RP40) [MIM:613801] VAR_009287 commonName VAR_009287 VAR_009287 disease phenotype-associated VAR_009287 phenoCommon Retinitis pigmentosa type 40 (RP40) [MIM:613801] VAR_009288 commonName VAR_009288 VAR_009288 disease not phenotype-associated VAR_009289 commonName VAR_009289 VAR_009289 disease phenotype-associated VAR_009289 phenoCommon Congenital stationary night blindness autosomal dominant type 2 (CSNBAD2) [MIM:163500] VAR_009290 commonName VAR_009290 VAR_009290 disease phenotype-associated VAR_009290 phenoCommon Retinitis pigmentosa type 40 (RP40) [MIM:613801] VAR_009291 commonName VAR_009291 VAR_009291 disease phenotype-associated VAR_009291 phenoCommon Retinitis pigmentosa type 40 (RP40) [MIM:613801] VAR_009292 commonName VAR_009292 VAR_009292 disease phenotype-associated VAR_009292 phenoCommon Retinitis pigmentosa type 40 (RP40) [MIM:613801] VAR_009293 commonName VAR_009293 VAR_009293 disease phenotype-associated VAR_009293 phenoCommon Retinitis pigmentosa type 40 (RP40) [MIM:613801] VAR_009294 commonName VAR_009294 VAR_009294 disease not phenotype-associated VAR_009295 commonName VAR_009295 VAR_009295 disease not phenotype-associated VAR_009296 commonName VAR_009296 VAR_009296 disease not phenotype-associated VAR_009297 commonName VAR_009297 VAR_009297 disease phenotype-associated VAR_009297 phenoCommon Retinitis pigmentosa type 49 (RP49) [MIM:613756] VAR_009298 commonName VAR_009298 VAR_009298 disease phenotype-associated VAR_009298 phenoCommon Blue cone monochromacy (BCM) [MIM:303700] VAR_009299 commonName VAR_009299 VAR_009299 disease phenotype-associated VAR_009299 phenoCommon Blue cone monochromacy (BCM) [MIM:303700] VAR_009300 commonName VAR_009300 VAR_009300 disease not phenotype-associated VAR_009301 commonName VAR_009301 VAR_009301 disease not phenotype-associated VAR_009302 commonName VAR_009302 VAR_009302 disease not phenotype-associated VAR_009303 commonName VAR_009303 VAR_009303 disease not phenotype-associated VAR_009304 commonName VAR_009304 VAR_009304 disease phenotype-associated VAR_009304 phenoCommon Zellweger syndrome (ZWS) [MIM:214100] VAR_009305 commonName VAR_009305 VAR_009305 disease not phenotype-associated VAR_009306 commonName VAR_009306 VAR_009306 disease phenotype-associated VAR_009306 phenoCommon Adrenoleukodystrophy neonatal (NALD) [MIM:202370] VAR_009307 commonName VAR_009307 VAR_009307 disease not phenotype-associated VAR_009309 commonName VAR_009309 VAR_009309 disease phenotype-associated VAR_009309 phenoCommon Maturity-onset diabetes of the young type 4 (MODY4) [MIM:606392] VAR_009310 commonName VAR_009310 VAR_009310 disease phenotype-associated VAR_009310 phenoCommon Maturity-onset diabetes of the young type 4 (MODY4) [MIM:606392] VAR_009311 commonName VAR_009311 VAR_009312 commonName VAR_009312 VAR_009312 disease phenotype-associated VAR_009312 phenoCommon Maturity-onset diabetes of the young type 4 (MODY4) [MIM:606392] VAR_009314 commonName VAR_009314 VAR_009314 disease not phenotype-associated VAR_009315 commonName VAR_009315 VAR_009315 disease phenotype-associated VAR_009315 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_009316 commonName VAR_009316 VAR_009316 disease phenotype-associated VAR_009316 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_009317 commonName VAR_009317 VAR_009317 disease not phenotype-associated VAR_009318 commonName VAR_009318 VAR_009318 disease phenotype-associated VAR_009318 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_009319 commonName VAR_009319 VAR_009319 disease phenotype-associated VAR_009319 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_009320 commonName VAR_009320 VAR_009320 disease phenotype-associated VAR_009320 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_009322 commonName VAR_009322 VAR_009322 disease phenotype-associated VAR_009322 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_009323 commonName VAR_009323 VAR_009323 disease phenotype-associated VAR_009323 phenoCommon Deafness autosomal recessive type 2 (DFNB2) [MIM:600060] VAR_009324 commonName VAR_009324 VAR_009325 commonName VAR_009325 VAR_009325 disease phenotype-associated VAR_009325 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_009326 commonName VAR_009326 VAR_009326 disease phenotype-associated VAR_009326 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_009328 commonName VAR_009328 VAR_009328 disease phenotype-associated VAR_009328 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_009329 commonName VAR_009329 VAR_009329 disease not phenotype-associated VAR_009330 commonName VAR_009330 VAR_009330 disease phenotype-associated VAR_009330 phenoCommon Deafness autosomal recessive type 2 (DFNB2) [MIM:600060] VAR_009331 commonName VAR_009331 VAR_009331 disease phenotype-associated VAR_009331 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_009332 commonName VAR_009332 VAR_009332 disease phenotype-associated VAR_009332 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_009334 commonName VAR_009334 VAR_009334 disease phenotype-associated VAR_009334 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_009335 commonName VAR_009335 VAR_009335 disease phenotype-associated VAR_009335 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_009336 commonName VAR_009336 VAR_009336 disease phenotype-associated VAR_009336 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_009337 commonName VAR_009337 VAR_009337 disease phenotype-associated VAR_009337 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_009338 commonName VAR_009338 VAR_009338 disease phenotype-associated VAR_009338 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_009339 commonName VAR_009339 VAR_009339 disease phenotype-associated VAR_009339 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_009340 commonName VAR_009340 VAR_009340 disease phenotype-associated VAR_009340 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_009341 commonName VAR_009341 VAR_009341 disease phenotype-associated VAR_009341 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_009343 commonName VAR_009343 VAR_009343 disease not phenotype-associated VAR_009344 commonName VAR_009344 VAR_009345 commonName VAR_009345 VAR_009345 disease not phenotype-associated VAR_009346 commonName VAR_009346 VAR_009346 disease not phenotype-associated VAR_009347 commonName VAR_009347 VAR_009347 disease phenotype-associated VAR_009347 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_009348 commonName VAR_009348 VAR_009348 disease phenotype-associated VAR_009348 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_009349 commonName VAR_009349 VAR_009349 disease phenotype-associated VAR_009349 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009350 commonName VAR_009350 VAR_009350 disease phenotype-associated VAR_009350 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009351 commonName VAR_009351 VAR_009351 disease phenotype-associated VAR_009351 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009352 commonName VAR_009352 VAR_009352 disease phenotype-associated VAR_009352 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009353 commonName VAR_009353 VAR_009353 disease phenotype-associated VAR_009353 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009354 commonName VAR_009354 VAR_009354 disease phenotype-associated VAR_009354 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009355 commonName VAR_009355 VAR_009355 disease phenotype-associated VAR_009355 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009356 commonName VAR_009356 VAR_009356 disease phenotype-associated VAR_009356 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009357 commonName VAR_009357 VAR_009357 disease phenotype-associated VAR_009357 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009358 commonName VAR_009358 VAR_009358 disease phenotype-associated VAR_009358 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009359 commonName VAR_009359 VAR_009359 disease phenotype-associated VAR_009359 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009360 commonName VAR_009360 VAR_009360 disease phenotype-associated VAR_009360 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009361 commonName VAR_009361 VAR_009361 disease phenotype-associated VAR_009361 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009362 commonName VAR_009362 VAR_009362 disease phenotype-associated VAR_009362 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009363 commonName VAR_009363 VAR_009363 disease phenotype-associated VAR_009363 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009364 commonName VAR_009364 VAR_009364 disease phenotype-associated VAR_009364 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009365 commonName VAR_009365 VAR_009365 disease phenotype-associated VAR_009365 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009366 commonName VAR_009366 VAR_009366 disease phenotype-associated VAR_009366 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009367 commonName VAR_009367 VAR_009367 disease phenotype-associated VAR_009367 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009368 commonName VAR_009368 VAR_009368 disease phenotype-associated VAR_009368 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009369 commonName VAR_009369 VAR_009369 disease phenotype-associated VAR_009369 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009370 commonName VAR_009370 VAR_009370 disease phenotype-associated VAR_009370 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009371 commonName VAR_009371 VAR_009371 disease phenotype-associated VAR_009371 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009372 commonName VAR_009372 VAR_009372 disease phenotype-associated VAR_009372 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009373 commonName VAR_009373 VAR_009373 disease phenotype-associated VAR_009373 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009374 commonName VAR_009374 VAR_009374 disease phenotype-associated VAR_009374 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009375 commonName VAR_009375 VAR_009375 disease phenotype-associated VAR_009375 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009376 commonName VAR_009376 VAR_009376 disease phenotype-associated VAR_009376 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009377 commonName VAR_009377 VAR_009377 disease phenotype-associated VAR_009377 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009378 commonName VAR_009378 VAR_009378 disease phenotype-associated VAR_009378 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009379 commonName VAR_009379 VAR_009379 disease phenotype-associated VAR_009379 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009380 commonName VAR_009380 VAR_009380 disease phenotype-associated VAR_009380 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009381 commonName VAR_009381 VAR_009381 disease phenotype-associated VAR_009381 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009382 commonName VAR_009382 VAR_009382 disease phenotype-associated VAR_009382 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009383 commonName VAR_009383 VAR_009383 disease phenotype-associated VAR_009383 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009384 commonName VAR_009384 VAR_009384 disease phenotype-associated VAR_009384 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009385 commonName VAR_009385 VAR_009385 disease phenotype-associated VAR_009385 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009386 commonName VAR_009386 VAR_009386 disease phenotype-associated VAR_009386 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009387 commonName VAR_009387 VAR_009387 disease phenotype-associated VAR_009387 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009388 commonName VAR_009388 VAR_009388 disease phenotype-associated VAR_009388 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009389 commonName VAR_009389 VAR_009389 disease phenotype-associated VAR_009389 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009390 commonName VAR_009390 VAR_009390 disease phenotype-associated VAR_009390 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009391 commonName VAR_009391 VAR_009391 disease phenotype-associated VAR_009391 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009392 commonName VAR_009392 VAR_009392 disease phenotype-associated VAR_009392 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009393 commonName VAR_009393 VAR_009393 disease phenotype-associated VAR_009393 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_009394 commonName VAR_009394 VAR_009394 disease not phenotype-associated VAR_009395 commonName VAR_009395 VAR_009395 disease not phenotype-associated VAR_009397 commonName VAR_009397 VAR_009398 commonName VAR_009398 VAR_009398 disease not phenotype-associated VAR_009399 commonName VAR_009399 VAR_009401 commonName VAR_009401 VAR_009402 commonName VAR_009402 VAR_009402 disease not phenotype-associated VAR_009403 commonName VAR_009403 VAR_009404 commonName VAR_009404 VAR_009404 disease not phenotype-associated VAR_009406 commonName VAR_009406 VAR_009406 disease not phenotype-associated VAR_009407 commonName VAR_009407 VAR_009407 disease phenotype-associated VAR_009407 phenoCommon Tuberous sclerosis type 1 (TSC1) [MIM:191100] VAR_009408 commonName VAR_009408 VAR_009408 disease phenotype-associated VAR_009408 phenoCommon Tuberous sclerosis type 1 (TSC1) [MIM:191100] VAR_009409 commonName VAR_009409 VAR_009410 commonName VAR_009410 VAR_009410 disease not phenotype-associated VAR_009411 commonName VAR_009411 VAR_009411 disease not phenotype-associated VAR_009412 commonName VAR_009412 VAR_009412 disease phenotype-associated VAR_009412 phenoCommon Tuberous sclerosis type 1 (TSC1) [MIM:191100] VAR_009413 commonName VAR_009413 VAR_009413 disease not phenotype-associated VAR_009414 commonName VAR_009414 VAR_009414 disease not phenotype-associated VAR_009415 commonName VAR_009415 VAR_009416 commonName VAR_009416 VAR_009416 disease not phenotype-associated VAR_009417 commonName VAR_009417 VAR_009417 disease phenotype-associated VAR_009417 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_009418 commonName VAR_009418 VAR_009418 disease phenotype-associated VAR_009418 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_009419 commonName VAR_009419 VAR_009419 disease not phenotype-associated VAR_009420 commonName VAR_009420 VAR_009420 disease not phenotype-associated VAR_009421 commonName VAR_009421 VAR_009421 disease not phenotype-associated VAR_009422 commonName VAR_009422 VAR_009422 disease phenotype-associated VAR_009422 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_009424 commonName VAR_009424 VAR_009424 disease not phenotype-associated VAR_009425 commonName VAR_009425 VAR_009425 disease not phenotype-associated VAR_009426 commonName VAR_009426 VAR_009426 disease phenotype-associated VAR_009426 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_009428 commonName VAR_009428 VAR_009428 disease not phenotype-associated VAR_009429 commonName VAR_009429 VAR_009429 disease not phenotype-associated VAR_009430 commonName VAR_009430 VAR_009430 disease not phenotype-associated VAR_009431 commonName VAR_009431 VAR_009431 disease not phenotype-associated VAR_009432 commonName VAR_009432 VAR_009432 disease phenotype-associated VAR_009432 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_009433 commonName VAR_009433 VAR_009433 disease not phenotype-associated VAR_009434 commonName VAR_009434 VAR_009434 disease not phenotype-associated VAR_009435 commonName VAR_009435 VAR_009435 disease phenotype-associated VAR_009435 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_009436 commonName VAR_009436 VAR_009436 disease phenotype-associated VAR_009436 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_009437 commonName VAR_009437 VAR_009439 commonName VAR_009439 VAR_009439 disease phenotype-associated VAR_009439 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_009440 commonName VAR_009440 VAR_009440 disease phenotype-associated VAR_009440 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_009441 commonName VAR_009441 VAR_009442 commonName VAR_009442 VAR_009442 disease phenotype-associated VAR_009442 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_009443 commonName VAR_009443 VAR_009444 commonName VAR_009444 VAR_009444 disease not phenotype-associated VAR_009445 commonName VAR_009445 VAR_009445 disease phenotype-associated VAR_009445 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_009446 commonName VAR_009446 VAR_009446 disease phenotype-associated VAR_009446 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_009447 commonName VAR_009447 VAR_009448 commonName VAR_009448 VAR_009448 disease phenotype-associated VAR_009448 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_009449 commonName VAR_009449 VAR_009449 disease phenotype-associated VAR_009449 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_009450 commonName VAR_009450 VAR_009450 disease phenotype-associated VAR_009450 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_009451 commonName VAR_009451 VAR_009451 disease phenotype-associated VAR_009451 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_009452 commonName VAR_009452 VAR_009452 disease phenotype-associated VAR_009452 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_009453 commonName VAR_009453 VAR_009453 disease phenotype-associated VAR_009453 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_009454 commonName VAR_009454 VAR_009454 disease phenotype-associated VAR_009454 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_009455 commonName VAR_009455 VAR_009455 disease phenotype-associated VAR_009455 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_009457 commonName VAR_009457 VAR_009457 disease not phenotype-associated VAR_009458 commonName VAR_009458 VAR_009458 disease not phenotype-associated VAR_009459 commonName VAR_009459 VAR_009459 disease phenotype-associated VAR_009459 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_009460 commonName VAR_009460 VAR_009460 disease phenotype-associated VAR_009460 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_009461 commonName VAR_009461 VAR_009462 commonName VAR_009462 VAR_009462 disease phenotype-associated VAR_009462 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_009463 commonName VAR_009463 VAR_009463 disease phenotype-associated VAR_009463 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_009464 commonName VAR_009464 VAR_009464 disease phenotype-associated VAR_009464 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_009465 commonName VAR_009465 VAR_009465 disease phenotype-associated VAR_009465 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_009466 commonName VAR_009466 VAR_009467 commonName VAR_009467 VAR_009467 disease phenotype-associated VAR_009467 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_009468 commonName VAR_009468 VAR_009468 disease phenotype-associated VAR_009468 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_009470 commonName VAR_009470 VAR_009470 disease phenotype-associated VAR_009470 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400] VAR_009471 commonName VAR_009471 VAR_009471 disease phenotype-associated VAR_009471 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400] VAR_009472 commonName VAR_009472 VAR_009472 disease phenotype-associated VAR_009472 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240] VAR_009473 commonName VAR_009473 VAR_009473 disease phenotype-associated VAR_009473 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400] VAR_009474 commonName VAR_009474 VAR_009474 disease phenotype-associated VAR_009474 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400] VAR_009475 commonName VAR_009475 VAR_009475 disease phenotype-associated VAR_009475 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_009475 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400] VAR_009476 commonName VAR_009476 VAR_009476 disease phenotype-associated VAR_009476 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_009477 commonName VAR_009477 VAR_009477 disease phenotype-associated VAR_009477 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240] VAR_009478 commonName VAR_009478 VAR_009478 disease phenotype-associated VAR_009478 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240] VAR_009480 commonName VAR_009480 VAR_009480 disease phenotype-associated VAR_009480 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400] VAR_009481 commonName VAR_009481 VAR_009481 disease phenotype-associated VAR_009481 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_009482 commonName VAR_009482 VAR_009482 disease phenotype-associated VAR_009482 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240] VAR_009482 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400] VAR_009483 commonName VAR_009483 VAR_009483 disease phenotype-associated VAR_009483 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_009483 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240] VAR_009483 phenoCommon Multiple neoplasia type 2A (MEN2A) [MIM:171400] VAR_009483 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_009484 commonName VAR_009484 VAR_009484 disease phenotype-associated VAR_009484 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_009485 commonName VAR_009485 VAR_009485 disease phenotype-associated VAR_009485 phenoCommon Multiple neoplasia type 2B (MEN2B) [MIM:162300] VAR_009486 commonName VAR_009486 VAR_009486 disease phenotype-associated VAR_009486 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240] VAR_009487 commonName VAR_009487 VAR_009487 disease not phenotype-associated VAR_009488 commonName VAR_009488 VAR_009488 disease not phenotype-associated VAR_009490 commonName VAR_009490 VAR_009490 disease phenotype-associated VAR_009490 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_009491 commonName VAR_009491 VAR_009491 disease phenotype-associated VAR_009491 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_009492 commonName VAR_009492 VAR_009492 disease phenotype-associated VAR_009492 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_009493 commonName VAR_009493 VAR_009493 disease phenotype-associated VAR_009493 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_009494 commonName VAR_009494 VAR_009495 commonName VAR_009495 VAR_009496 commonName VAR_009496 VAR_009497 commonName VAR_009497 VAR_009497 disease phenotype-associated VAR_009497 phenoCommon Hirschsprung disease type 3 (HSCR3) [MIM:613711] VAR_009498 commonName VAR_009498 VAR_009499 commonName VAR_009499 VAR_009501 commonName VAR_009501 VAR_009501 disease not phenotype-associated VAR_009502 commonName VAR_009502 VAR_009503 commonName VAR_009503 VAR_009503 disease not phenotype-associated VAR_009504 commonName VAR_009504 VAR_009504 disease phenotype-associated VAR_009504 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] VAR_009504 phenoCommon Gilbert syndrome (GILBS) [MIM:143500] VAR_009504 phenoCommon Transient familial neonatal hyperbilirubinemia (TNHBB) [MIM:237900] VAR_009505 commonName VAR_009505 VAR_009505 disease phenotype-associated VAR_009505 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] VAR_009505 phenoCommon Gilbert syndrome (GILBS) [MIM:143500] VAR_009506 commonName VAR_009506 VAR_009506 disease phenotype-associated VAR_009506 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] VAR_009507 commonName VAR_009507 VAR_009507 disease phenotype-associated VAR_009507 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] VAR_009508 commonName VAR_009508 VAR_009508 disease phenotype-associated VAR_009508 phenoCommon Darier disease (DD) [MIM:124200] VAR_009509 commonName VAR_009509 VAR_009509 disease phenotype-associated VAR_009509 phenoCommon Darier disease (DD) [MIM:124200] VAR_009510 commonName VAR_009510 VAR_009510 disease not phenotype-associated VAR_009512 commonName VAR_009512 VAR_009512 disease not phenotype-associated VAR_009513 commonName VAR_009513 VAR_009513 disease phenotype-associated VAR_009513 phenoCommon Doyne honeycomb retinal dystrophy (DHRD) [MIM:126600] VAR_009514 commonName VAR_009514 VAR_009514 disease not phenotype-associated VAR_009515 commonName VAR_009515 VAR_009515 disease not phenotype-associated VAR_009517 commonName VAR_009517 VAR_009517 disease phenotype-associated VAR_009517 phenoCommon Glycogen storage disease type 9C (GSD9C) [MIM:613027] VAR_009518 commonName VAR_009518 VAR_009518 disease phenotype-associated VAR_009518 phenoCommon Glycogen storage disease type 9C (GSD9C) [MIM:613027] VAR_009519 commonName VAR_009519 VAR_009519 disease not phenotype-associated VAR_009520 commonName VAR_009520 VAR_009520 disease not phenotype-associated VAR_009521 commonName VAR_009521 VAR_009521 disease not phenotype-associated VAR_009522 commonName VAR_009522 VAR_009522 disease not phenotype-associated VAR_009523 commonName VAR_009523 VAR_009523 disease not phenotype-associated VAR_009524 commonName VAR_009524 VAR_009524 disease not phenotype-associated VAR_009525 commonName VAR_009525 VAR_009525 disease not phenotype-associated VAR_009526 commonName VAR_009526 VAR_009526 disease not phenotype-associated VAR_009527 commonName VAR_009527 VAR_009527 disease not phenotype-associated VAR_009528 commonName VAR_009528 VAR_009528 disease not phenotype-associated VAR_009529 commonName VAR_009529 VAR_009529 disease not phenotype-associated VAR_009530 commonName VAR_009530 VAR_009530 disease phenotype-associated VAR_009530 phenoCommon Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250] VAR_009531 commonName VAR_009531 VAR_009531 disease phenotype-associated VAR_009531 phenoCommon Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250] VAR_009532 commonName VAR_009532 VAR_009532 disease phenotype-associated VAR_009532 phenoCommon Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250] VAR_009533 commonName VAR_009533 VAR_009533 disease phenotype-associated VAR_009533 phenoCommon Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250] VAR_009534 commonName VAR_009534 VAR_009534 disease phenotype-associated VAR_009534 phenoCommon Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250] VAR_009535 commonName VAR_009535 VAR_009535 disease phenotype-associated VAR_009535 phenoCommon Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250] VAR_009536 commonName VAR_009536 VAR_009536 disease phenotype-associated VAR_009536 phenoCommon Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250] VAR_009537 commonName VAR_009537 VAR_009537 disease phenotype-associated VAR_009537 phenoCommon Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250] VAR_009538 commonName VAR_009538 VAR_009538 disease phenotype-associated VAR_009538 phenoCommon Cyclic haematopoiesis (CH) [MIM:162800] VAR_009539 commonName VAR_009539 VAR_009539 disease phenotype-associated VAR_009539 phenoCommon Cyclic haematopoiesis (CH) [MIM:162800] VAR_009540 commonName VAR_009540 VAR_009540 disease phenotype-associated VAR_009540 phenoCommon Cyclic haematopoiesis (CH) [MIM:162800] VAR_009541 commonName VAR_009541 VAR_009541 disease phenotype-associated VAR_009541 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000] VAR_009542 commonName VAR_009542 VAR_009542 disease phenotype-associated VAR_009542 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000] VAR_009543 commonName VAR_009543 VAR_009543 disease phenotype-associated VAR_009543 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000] VAR_009544 commonName VAR_009544 VAR_009544 disease phenotype-associated VAR_009544 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000] VAR_009547 commonName VAR_009547 VAR_009547 disease not phenotype-associated VAR_009548 commonName VAR_009548 VAR_009548 disease phenotype-associated VAR_009548 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009549 commonName VAR_009549 VAR_009549 disease phenotype-associated VAR_009549 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009550 commonName VAR_009550 VAR_009550 disease phenotype-associated VAR_009550 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009551 commonName VAR_009551 VAR_009551 disease phenotype-associated VAR_009551 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009553 commonName VAR_009553 VAR_009553 disease not phenotype-associated VAR_009554 commonName VAR_009554 VAR_009554 disease phenotype-associated VAR_009554 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009555 commonName VAR_009555 VAR_009555 disease phenotype-associated VAR_009555 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009556 commonName VAR_009556 VAR_009556 disease phenotype-associated VAR_009556 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009557 commonName VAR_009557 VAR_009557 disease phenotype-associated VAR_009557 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009558 commonName VAR_009558 VAR_009558 disease phenotype-associated VAR_009558 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009559 commonName VAR_009559 VAR_009559 disease phenotype-associated VAR_009559 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009560 commonName VAR_009560 VAR_009560 disease phenotype-associated VAR_009560 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009561 commonName VAR_009561 VAR_009561 disease phenotype-associated VAR_009561 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009563 commonName VAR_009563 VAR_009563 disease phenotype-associated VAR_009563 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009564 commonName VAR_009564 VAR_009564 disease phenotype-associated VAR_009564 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009565 commonName VAR_009565 VAR_009565 disease phenotype-associated VAR_009565 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009566 commonName VAR_009566 VAR_009566 disease phenotype-associated VAR_009566 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009567 commonName VAR_009567 VAR_009567 disease not phenotype-associated VAR_009569 commonName VAR_009569 VAR_009569 disease phenotype-associated VAR_009569 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009570 commonName VAR_009570 VAR_009570 disease phenotype-associated VAR_009570 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009571 commonName VAR_009571 VAR_009571 disease phenotype-associated VAR_009571 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009572 commonName VAR_009572 VAR_009572 disease phenotype-associated VAR_009572 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009573 commonName VAR_009573 VAR_009573 disease phenotype-associated VAR_009573 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009574 commonName VAR_009574 VAR_009574 disease phenotype-associated VAR_009574 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009575 commonName VAR_009575 VAR_009575 disease phenotype-associated VAR_009575 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009576 commonName VAR_009576 VAR_009576 disease phenotype-associated VAR_009576 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009577 commonName VAR_009577 VAR_009577 disease phenotype-associated VAR_009577 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009578 commonName VAR_009578 VAR_009578 disease phenotype-associated VAR_009578 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009579 commonName VAR_009579 VAR_009579 disease phenotype-associated VAR_009579 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009580 commonName VAR_009580 VAR_009580 disease phenotype-associated VAR_009580 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009581 commonName VAR_009581 VAR_009581 disease phenotype-associated VAR_009581 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009582 commonName VAR_009582 VAR_009582 disease phenotype-associated VAR_009582 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009583 commonName VAR_009583 VAR_009583 disease phenotype-associated VAR_009583 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009584 commonName VAR_009584 VAR_009584 disease phenotype-associated VAR_009584 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009585 commonName VAR_009585 VAR_009585 disease phenotype-associated VAR_009585 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009586 commonName VAR_009586 VAR_009586 disease phenotype-associated VAR_009586 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009587 commonName VAR_009587 VAR_009587 disease phenotype-associated VAR_009587 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009588 commonName VAR_009588 VAR_009588 disease phenotype-associated VAR_009588 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009589 commonName VAR_009589 VAR_009589 disease phenotype-associated VAR_009589 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009590 commonName VAR_009590 VAR_009590 disease phenotype-associated VAR_009590 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009591 commonName VAR_009591 VAR_009591 disease phenotype-associated VAR_009591 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009592 commonName VAR_009592 VAR_009592 disease phenotype-associated VAR_009592 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009593 commonName VAR_009593 VAR_009593 disease phenotype-associated VAR_009593 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009594 commonName VAR_009594 VAR_009594 disease phenotype-associated VAR_009594 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009595 commonName VAR_009595 VAR_009595 disease phenotype-associated VAR_009595 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009596 commonName VAR_009596 VAR_009596 disease phenotype-associated VAR_009596 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009597 commonName VAR_009597 VAR_009597 disease phenotype-associated VAR_009597 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009598 commonName VAR_009598 VAR_009598 disease phenotype-associated VAR_009598 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009599 commonName VAR_009599 VAR_009599 disease phenotype-associated VAR_009599 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009600 commonName VAR_009600 VAR_009600 disease phenotype-associated VAR_009600 phenoCommon Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600] VAR_009601 commonName VAR_009601 VAR_009601 disease phenotype-associated VAR_009601 phenoCommon Ulnar-mammary syndrome (UMS) [MIM:181450] VAR_009602 commonName VAR_009602 VAR_009602 disease phenotype-associated VAR_009602 phenoCommon Ulnar-mammary syndrome (UMS) [MIM:181450] VAR_009603 commonName VAR_009603 VAR_009603 disease phenotype-associated VAR_009603 phenoCommon Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] VAR_009604 commonName VAR_009604 VAR_009604 disease not phenotype-associated VAR_009605 commonName VAR_009605 VAR_009605 disease phenotype-associated VAR_009605 phenoCommon Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] VAR_009606 commonName VAR_009606 VAR_009606 disease phenotype-associated VAR_009606 phenoCommon Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] VAR_009613 commonName VAR_009613 VAR_009613 disease phenotype-associated VAR_009613 phenoCommon Familial adenomatous polyposis (FAP) [MIM:175100] VAR_009614 commonName VAR_009614 VAR_009614 disease phenotype-associated VAR_009614 phenoCommon Familial adenomatous polyposis (FAP) [MIM:175100] VAR_009615 commonName VAR_009615 VAR_009616 commonName VAR_009616 VAR_009616 disease phenotype-associated VAR_009616 phenoCommon Familial adenomatous polyposis (FAP) [MIM:175100] VAR_009617 commonName VAR_009617 VAR_009617 disease not phenotype-associated VAR_009618 commonName VAR_009618 VAR_009618 disease phenotype-associated VAR_009618 phenoCommon Alkaptonuria (AKU) [MIM:203500] VAR_009619 commonName VAR_009619 VAR_009619 disease phenotype-associated VAR_009619 phenoCommon Alkaptonuria (AKU) [MIM:203500] VAR_009620 commonName VAR_009620 VAR_009620 disease phenotype-associated VAR_009620 phenoCommon Alkaptonuria (AKU) [MIM:203500] VAR_009621 commonName VAR_009621 VAR_009621 disease not phenotype-associated VAR_009622 commonName VAR_009622 VAR_009622 disease not phenotype-associated VAR_009623 commonName VAR_009623 VAR_009623 disease not phenotype-associated VAR_009624 commonName VAR_009624 VAR_009624 disease phenotype-associated VAR_009624 phenoCommon Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] VAR_009625 commonName VAR_009625 VAR_009625 disease phenotype-associated VAR_009625 phenoCommon Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] VAR_009626 commonName VAR_009626 VAR_009626 disease phenotype-associated VAR_009626 phenoCommon Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] VAR_009627 commonName VAR_009627 VAR_009627 disease phenotype-associated VAR_009627 phenoCommon Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] VAR_009628 commonName VAR_009628 VAR_009628 disease not phenotype-associated VAR_009629 commonName VAR_009629 VAR_009629 disease not phenotype-associated VAR_009630 commonName VAR_009630 VAR_009630 disease phenotype-associated VAR_009630 phenoCommon Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] VAR_009631 commonName VAR_009631 VAR_009631 disease phenotype-associated VAR_009631 phenoCommon Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] VAR_009632 commonName VAR_009632 VAR_009633 commonName VAR_009633 VAR_009633 disease phenotype-associated VAR_009633 phenoCommon Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] VAR_009634 commonName VAR_009634 VAR_009634 disease phenotype-associated VAR_009634 phenoCommon Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] VAR_009635 commonName VAR_009635 VAR_009635 disease phenotype-associated VAR_009635 phenoCommon Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] VAR_009636 commonName VAR_009636 VAR_009636 disease not phenotype-associated VAR_009637 commonName VAR_009637 VAR_009637 disease not phenotype-associated VAR_009638 commonName VAR_009638 VAR_009639 commonName VAR_009639 VAR_009639 disease phenotype-associated VAR_009639 phenoCommon Fanconi anemia (FA) [MIM:227650] VAR_009640 commonName VAR_009640 VAR_009640 disease phenotype-associated VAR_009640 phenoCommon Fanconi anemia (FA) [MIM:227650] VAR_009641 commonName VAR_009641 VAR_009641 disease phenotype-associated VAR_009641 phenoCommon Fanconi anemia (FA) [MIM:227650] VAR_009642 commonName VAR_009642 VAR_009642 disease phenotype-associated VAR_009642 phenoCommon Fanconi anemia (FA) [MIM:227650] VAR_009643 commonName VAR_009643 VAR_009643 disease phenotype-associated VAR_009643 phenoCommon Fanconi anemia (FA) [MIM:227650] VAR_009644 commonName VAR_009644 VAR_009644 disease not phenotype-associated VAR_009645 commonName VAR_009645 VAR_009645 disease not phenotype-associated VAR_009646 commonName VAR_009646 VAR_009646 disease not phenotype-associated VAR_009647 commonName VAR_009647 VAR_009647 disease phenotype-associated VAR_009647 phenoCommon Fanconi anemia (FA) [MIM:227650] VAR_009648 commonName VAR_009648 VAR_009648 disease phenotype-associated VAR_009648 phenoCommon Fanconi anemia (FA) [MIM:227650] VAR_009649 commonName VAR_009649 VAR_009649 disease phenotype-associated VAR_009649 phenoCommon Fanconi anemia (FA) [MIM:227650] VAR_009650 commonName VAR_009650 VAR_009650 disease phenotype-associated VAR_009650 phenoCommon Fanconi anemia (FA) [MIM:227650] VAR_009651 commonName VAR_009651 VAR_009651 disease phenotype-associated VAR_009651 phenoCommon Fanconi anemia (FA) [MIM:227650] VAR_009652 commonName VAR_009652 VAR_009652 disease phenotype-associated VAR_009652 phenoCommon Fanconi anemia (FA) [MIM:227650] VAR_009653 commonName VAR_009653 VAR_009653 disease phenotype-associated VAR_009653 phenoCommon Fanconi anemia (FA) [MIM:227650] VAR_009655 commonName VAR_009655 VAR_009655 disease not phenotype-associated VAR_009656 commonName VAR_009656 VAR_009656 disease phenotype-associated VAR_009656 phenoCommon Fanconi anemia (FA) [MIM:227650] VAR_009657 commonName VAR_009657 VAR_009657 disease not phenotype-associated VAR_009658 commonName VAR_009658 VAR_009658 disease phenotype-associated VAR_009658 phenoCommon Fanconi anemia (FA) [MIM:227650] VAR_009659 commonName VAR_009659 VAR_009659 disease phenotype-associated VAR_009659 phenoCommon Hereditary neuropathy with liability to pressure palsies (HNPP) [MIM:162500] VAR_009660 commonName VAR_009660 VAR_009660 disease phenotype-associated VAR_009660 phenoCommon Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220] VAR_009661 commonName VAR_009661 VAR_009661 disease phenotype-associated VAR_009661 phenoCommon Charcot-Marie-Tooth disease type 1E (CMT1E) [MIM:118300] VAR_009662 commonName VAR_009662 VAR_009662 disease phenotype-associated VAR_009662 phenoCommon Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220] VAR_009663 commonName VAR_009663 VAR_009663 disease not phenotype-associated VAR_009664 commonName VAR_009664 VAR_009664 disease phenotype-associated VAR_009664 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_009665 commonName VAR_009665 VAR_009665 disease not phenotype-associated VAR_009666 commonName VAR_009666 VAR_009666 disease not phenotype-associated VAR_009667 commonName VAR_009667 VAR_009667 disease not phenotype-associated VAR_009668 commonName VAR_009668 VAR_009668 disease not phenotype-associated VAR_009669 commonName VAR_009669 VAR_009669 disease not phenotype-associated VAR_009670 commonName VAR_009670 VAR_009670 disease not phenotype-associated VAR_009671 commonName VAR_009671 VAR_009671 disease phenotype-associated VAR_009671 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_009672 commonName VAR_009672 VAR_009672 disease not phenotype-associated VAR_009673 commonName VAR_009673 VAR_009673 disease not phenotype-associated VAR_009674 commonName VAR_009674 VAR_009674 disease not phenotype-associated VAR_009675 commonName VAR_009675 VAR_009675 disease phenotype-associated VAR_009675 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_009676 commonName VAR_009676 VAR_009676 disease phenotype-associated VAR_009676 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_009677 commonName VAR_009677 VAR_009677 disease not phenotype-associated VAR_009678 commonName VAR_009678 VAR_009679 commonName VAR_009679 VAR_009680 commonName VAR_009680 VAR_009680 disease phenotype-associated VAR_009680 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_009681 commonName VAR_009681 VAR_009681 disease phenotype-associated VAR_009681 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_009682 commonName VAR_009682 VAR_009682 disease phenotype-associated VAR_009682 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_009683 commonName VAR_009683 VAR_009683 disease phenotype-associated VAR_009683 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_009684 commonName VAR_009684 VAR_009684 disease phenotype-associated VAR_009684 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_009685 commonName VAR_009685 VAR_009685 disease not phenotype-associated VAR_009686 commonName VAR_009686 VAR_009686 disease not phenotype-associated VAR_009687 commonName VAR_009687 VAR_009687 disease not phenotype-associated VAR_009688 commonName VAR_009688 VAR_009688 disease phenotype-associated VAR_009688 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_009689 commonName VAR_009689 VAR_009689 disease phenotype-associated VAR_009689 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_009690 commonName VAR_009690 VAR_009690 disease not phenotype-associated VAR_009691 commonName VAR_009691 VAR_009691 disease phenotype-associated VAR_009691 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_009692 commonName VAR_009692 VAR_009692 disease phenotype-associated VAR_009692 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_009693 commonName VAR_009693 VAR_009693 disease phenotype-associated VAR_009693 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_009694 commonName VAR_009694 VAR_009694 disease not phenotype-associated VAR_009695 commonName VAR_009695 VAR_009695 disease phenotype-associated VAR_009695 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_009696 commonName VAR_009696 VAR_009696 disease phenotype-associated VAR_009696 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_009697 commonName VAR_009697 VAR_009697 disease phenotype-associated VAR_009697 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_009698 commonName VAR_009698 VAR_009698 disease not phenotype-associated VAR_009699 commonName VAR_009699 VAR_009699 disease not phenotype-associated VAR_009700 commonName VAR_009700 VAR_009700 disease phenotype-associated VAR_009700 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_009701 commonName VAR_009701 VAR_009701 disease phenotype-associated VAR_009701 phenoCommon Holt-Oram syndrome (HOS) [MIM:142900] VAR_009702 commonName VAR_009702 VAR_009702 disease phenotype-associated VAR_009702 phenoCommon Holt-Oram syndrome (HOS) [MIM:142900] VAR_009703 commonName VAR_009703 VAR_009703 disease phenotype-associated VAR_009703 phenoCommon Charcot-Marie-Tooth disease type 2E (CMT2E) [MIM:607684] VAR_009704 commonName VAR_009704 VAR_009704 disease not phenotype-associated VAR_009705 commonName VAR_009705 VAR_009705 disease not phenotype-associated VAR_009706 commonName VAR_009706 VAR_009706 disease not phenotype-associated VAR_009707 commonName VAR_009707 VAR_009707 disease not phenotype-associated VAR_009708 commonName VAR_009708 VAR_009709 commonName VAR_009709 VAR_009709 disease not phenotype-associated VAR_009710 commonName VAR_009710 VAR_009710 disease not phenotype-associated VAR_009864 commonName VAR_009864 VAR_009864 disease phenotype-associated VAR_009864 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] VAR_009864 phenoCommon McKusick-Kaufman syndrome (MKKS) [MIM:236700] VAR_009865 commonName VAR_009865 VAR_009865 disease not phenotype-associated VAR_009866 commonName VAR_009866 VAR_009866 disease phenotype-associated VAR_009866 phenoCommon McKusick-Kaufman syndrome (MKKS) [MIM:236700] VAR_009867 commonName VAR_009867 VAR_009867 disease phenotype-associated VAR_009867 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] VAR_009867 phenoCommon McKusick-Kaufman syndrome (MKKS) [MIM:236700] VAR_009868 commonName VAR_009868 VAR_009868 disease not phenotype-associated VAR_009869 commonName VAR_009869 VAR_009869 disease not phenotype-associated VAR_009871 comment An hepatocellular carcinoma VAR_009871 commonName VAR_009871 VAR_009873 commonName VAR_009873 VAR_009874 commonName VAR_009874 VAR_009874 disease phenotype-associated VAR_009874 phenoCommon Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678] VAR_009874 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_009875 commonName VAR_009875 VAR_009875 disease phenotype-associated VAR_009875 phenoCommon Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678] VAR_009876 commonName VAR_009876 VAR_009876 disease phenotype-associated VAR_009876 phenoCommon Polydactyly postaxial type A1 (PAPA1) [MIM:174200] VAR_009876 phenoCommon Polydactyly postaxial type B polydactyly (PAPB) [MIM:174200] VAR_009877 commonName VAR_009877 VAR_009877 disease not phenotype-associated VAR_009878 commonName VAR_009878 VAR_009878 disease phenotype-associated VAR_009878 phenoCommon Hexokinase deficiency (HK deficiency) [MIM:235700] VAR_009879 commonName VAR_009879 VAR_009879 disease not phenotype-associated VAR_009880 commonName VAR_009880 VAR_009880 disease not phenotype-associated VAR_009881 commonName VAR_009881 VAR_009881 disease phenotype-associated VAR_009881 phenoCommon Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] VAR_009882 commonName VAR_009882 VAR_009882 disease phenotype-associated VAR_009882 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] VAR_009883 commonName VAR_009883 VAR_009883 disease phenotype-associated VAR_009883 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] VAR_009884 commonName VAR_009884 VAR_009884 disease phenotype-associated VAR_009884 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] VAR_009885 commonName VAR_009885 VAR_009885 disease phenotype-associated HbVar.675 commonName Hb A2-Troodos VAR_009885 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_009886 commonName VAR_009886 VAR_009886 disease phenotype-associated VAR_009886 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_009887 commonName VAR_009887 VAR_009887 disease phenotype-associated VAR_009887 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_009888 commonName VAR_009888 VAR_009888 disease phenotype-associated VAR_009888 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_009889 commonName VAR_009889 VAR_009889 disease not phenotype-associated VAR_009890 commonName VAR_009890 VAR_009890 disease not phenotype-associated VAR_009891 commonName VAR_009891 VAR_009891 disease not phenotype-associated VAR_009892 commonName VAR_009892 VAR_009892 disease not phenotype-associated VAR_009894 commonName VAR_009894 VAR_009894 disease not phenotype-associated VAR_009895 commonName VAR_009895 VAR_009895 disease not phenotype-associated VAR_009896 commonName VAR_009896 VAR_009896 disease not phenotype-associated VAR_009897 commonName VAR_009897 VAR_009897 disease not phenotype-associated VAR_009898 commonName VAR_009898 VAR_009898 disease not phenotype-associated VAR_009899 commonName VAR_009899 VAR_009899 disease not phenotype-associated VAR_009900 commonName VAR_009900 VAR_009900 disease not phenotype-associated VAR_009901 commonName VAR_009901 VAR_009901 disease not phenotype-associated VAR_009902 commonName VAR_009902 VAR_009902 disease not phenotype-associated VAR_009906 commonName VAR_009906 VAR_009907 commonName VAR_009907 VAR_009907 disease phenotype-associated VAR_009907 phenoCommon Long QT syndrome type 5 (LQT5) [MIM:613695] VAR_009908 commonName VAR_009908 VAR_009908 disease phenotype-associated VAR_009908 phenoCommon Long QT syndrome type 5 (LQT5) [MIM:613695] VAR_009909 commonName VAR_009909 VAR_009909 disease phenotype-associated VAR_009909 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_009910 commonName VAR_009910 VAR_009910 disease phenotype-associated VAR_009910 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_009911 commonName VAR_009911 VAR_009911 disease phenotype-associated VAR_009911 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_009912 commonName VAR_009912 VAR_009912 disease phenotype-associated VAR_009912 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_009913 commonName VAR_009913 VAR_009913 disease phenotype-associated VAR_009913 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_009914 commonName VAR_009914 VAR_009914 disease phenotype-associated VAR_009914 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_009915 commonName VAR_009915 VAR_009915 disease phenotype-associated VAR_009915 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_009916 commonName VAR_009916 VAR_009916 disease phenotype-associated VAR_009916 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_009918 commonName VAR_009918 VAR_009918 disease phenotype-associated VAR_009918 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_009919 commonName VAR_009919 VAR_009919 disease phenotype-associated VAR_009919 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_009920 commonName VAR_009920 VAR_009920 disease phenotype-associated VAR_009920 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_009921 commonName VAR_009921 VAR_009921 disease phenotype-associated VAR_009921 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_009922 commonName VAR_009922 VAR_009922 disease phenotype-associated VAR_009922 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_009923 commonName VAR_009923 VAR_009923 disease phenotype-associated VAR_009923 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_009924 commonName VAR_009924 VAR_009924 disease phenotype-associated VAR_009924 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_009925 commonName VAR_009925 VAR_009925 disease phenotype-associated VAR_009925 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_009926 commonName VAR_009926 VAR_009926 disease phenotype-associated VAR_009926 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_009927 commonName VAR_009927 VAR_009927 disease phenotype-associated VAR_009927 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_009928 commonName VAR_009928 VAR_009928 disease phenotype-associated VAR_009928 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_009929 commonName VAR_009929 VAR_009929 disease phenotype-associated VAR_009929 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_009935 commonName VAR_009935 VAR_009935 disease phenotype-associated VAR_009935 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_009936 commonName VAR_009936 VAR_009936 disease phenotype-associated VAR_009936 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_009937 commonName VAR_009937 VAR_009937 disease phenotype-associated VAR_009937 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_009938 commonName VAR_009938 VAR_009938 disease phenotype-associated VAR_009938 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_009941 commonName VAR_009941 VAR_009941 disease phenotype-associated VAR_009941 phenoCommon Bare lymphocyte syndrome type 2 (BLS2) [MIM:209920] VAR_009942 commonName VAR_009942 VAR_009942 disease not phenotype-associated VAR_009943 commonName VAR_009943 VAR_009943 disease not phenotype-associated VAR_009944 commonName VAR_009944 VAR_009944 disease phenotype-associated VAR_009944 phenoCommon Acrofacial dysostosis Weyers type (WAD) [MIM:193530] VAR_009945 commonName VAR_009945 VAR_009945 disease not phenotype-associated VAR_009946 commonName VAR_009946 VAR_009946 disease phenotype-associated VAR_009946 phenoCommon Ellis-van Creveld syndrome (EVC) [MIM:225500] VAR_009947 commonName VAR_009947 VAR_009947 disease not phenotype-associated VAR_009948 commonName VAR_009948 VAR_009948 disease not phenotype-associated VAR_009949 commonName VAR_009949 VAR_009949 disease not phenotype-associated VAR_009950 commonName VAR_009950 VAR_009950 disease not phenotype-associated VAR_009952 commonName VAR_009952 VAR_009952 disease phenotype-associated VAR_009952 phenoCommon Spondylocostal dysostosis type 1 (SCDO1) [MIM:277300] VAR_009953 commonName VAR_009953 VAR_009953 disease not phenotype-associated VAR_009954 commonName VAR_009954 VAR_009954 disease not phenotype-associated VAR_009955 commonName VAR_009955 VAR_009955 disease not phenotype-associated VAR_009958 commonName VAR_009958 VAR_009958 disease not phenotype-associated VAR_009959 commonName VAR_009959 VAR_009959 disease not phenotype-associated VAR_009960 commonName VAR_009960 VAR_009960 disease not phenotype-associated VAR_009961 commonName VAR_009961 VAR_009961 disease phenotype-associated VAR_009961 phenoCommon Holoprosencephaly type 4 (HPE4) [MIM:142946] VAR_009962 commonName VAR_009962 VAR_009962 disease phenotype-associated VAR_009962 phenoCommon Holoprosencephaly type 4 (HPE4) [MIM:142946] VAR_009965 commonName VAR_009965 VAR_009965 disease phenotype-associated VAR_009965 phenoCommon Palmoplantar keratoderma with deafness (PPKDFN) [MIM:148350] VAR_009966 commonName VAR_009966 VAR_009966 disease not phenotype-associated VAR_009967 commonName VAR_009967 VAR_009968 commonName VAR_009968 VAR_009968 disease not phenotype-associated VAR_009969 commonName VAR_009969 VAR_009969 disease phenotype-associated VAR_009969 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] VAR_009970 commonName VAR_009970 VAR_009970 disease not phenotype-associated VAR_009971 commonName VAR_009971 VAR_009971 disease phenotype-associated VAR_009971 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_009972 commonName VAR_009972 VAR_009972 disease phenotype-associated VAR_009972 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_009972 phenoCommon Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] VAR_009974 commonName VAR_009974 VAR_009974 disease phenotype-associated VAR_009974 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_009975 commonName VAR_009975 VAR_009975 disease phenotype-associated VAR_009975 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] VAR_009977 commonName VAR_009977 VAR_009977 disease phenotype-associated VAR_009977 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] VAR_009978 commonName VAR_009978 VAR_009978 disease phenotype-associated VAR_009978 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] VAR_009979 commonName VAR_009979 VAR_009979 disease phenotype-associated VAR_009979 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_009980 commonName VAR_009980 VAR_009980 disease phenotype-associated VAR_009980 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_009982 commonName VAR_009982 VAR_009982 disease phenotype-associated VAR_009982 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_009983 commonName VAR_009983 VAR_009983 disease phenotype-associated VAR_009983 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_009984 commonName VAR_009984 VAR_009984 disease phenotype-associated VAR_009984 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_009985 commonName VAR_009985 VAR_009985 disease phenotype-associated VAR_009985 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_009985 phenoCommon Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] VAR_009986 commonName VAR_009986 VAR_009986 disease phenotype-associated VAR_009986 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_009987 commonName VAR_009987 VAR_009987 disease phenotype-associated VAR_009987 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_009988 commonName VAR_009988 VAR_009988 disease phenotype-associated VAR_009988 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_009989 commonName VAR_009989 VAR_009989 disease phenotype-associated VAR_009989 phenoCommon Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660] VAR_009990 commonName VAR_009990 VAR_009990 disease phenotype-associated VAR_009990 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_009991 commonName VAR_009991 VAR_009991 disease phenotype-associated VAR_009991 phenoCommon Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660] VAR_009992 commonName VAR_009992 VAR_009992 disease phenotype-associated VAR_009992 phenoCommon Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660] VAR_009993 commonName VAR_009993 VAR_009993 disease phenotype-associated VAR_009993 phenoCommon Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660] VAR_009994 commonName VAR_009994 VAR_009994 disease phenotype-associated VAR_009994 phenoCommon Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660] VAR_009995 commonName VAR_009995 VAR_009995 disease phenotype-associated VAR_009995 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_009995 phenoCommon Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660] VAR_009996 commonName VAR_009996 VAR_009996 disease phenotype-associated VAR_009996 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_009997 commonName VAR_009997 VAR_009997 disease phenotype-associated VAR_009997 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_009998 commonName VAR_009998 VAR_009998 disease phenotype-associated VAR_009998 phenoCommon Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660] VAR_009999 commonName VAR_009999 VAR_009999 disease phenotype-associated VAR_009999 phenoCommon Occipital horn syndrome (OHS) [MIM:304150] VAR_010000 commonName VAR_010000 VAR_010000 disease not phenotype-associated VAR_010001 commonName VAR_010001 VAR_010001 disease phenotype-associated VAR_010001 phenoCommon Menkes disease (MNKD) [MIM:309400] VAR_010002 commonName VAR_010002 VAR_010002 disease phenotype-associated VAR_010002 phenoCommon Menkes disease (MNKD) [MIM:309400] VAR_010003 commonName VAR_010003 VAR_010003 disease phenotype-associated VAR_010003 phenoCommon Menkes disease (MNKD) [MIM:309400] VAR_010004 commonName VAR_010004 VAR_010004 disease phenotype-associated VAR_010004 phenoCommon Menkes disease (MNKD) [MIM:309400] VAR_010005 commonName VAR_010005 VAR_010005 disease phenotype-associated VAR_010005 phenoCommon Menkes disease (MNKD) [MIM:309400] VAR_010006 commonName VAR_010006 VAR_010006 disease phenotype-associated VAR_010006 phenoCommon Menkes disease (MNKD) [MIM:309400] VAR_010007 commonName VAR_010007 VAR_010007 disease phenotype-associated VAR_010007 phenoCommon Menkes disease (MNKD) [MIM:309400] VAR_010008 commonName VAR_010008 VAR_010008 disease phenotype-associated VAR_010008 phenoCommon Menkes disease (MNKD) [MIM:309400] VAR_010010 commonName VAR_010010 VAR_010010 disease phenotype-associated VAR_010010 phenoCommon Wilson disease (WD) [MIM:277900] VAR_010022 commonName VAR_010022 VAR_010022 disease phenotype-associated VAR_010022 phenoCommon Orthostatic intolerance (OI) [MIM:604715] VAR_010023 commonName VAR_010023 VAR_010023 disease not phenotype-associated VAR_010025 commonName VAR_010025 VAR_010025 disease phenotype-associated VAR_010025 phenoCommon Enhanced S cone syndrome (ESCS) [MIM:268100] VAR_010026 commonName VAR_010026 VAR_010026 disease phenotype-associated VAR_010026 phenoCommon Enhanced S cone syndrome (ESCS) [MIM:268100] VAR_010027 commonName VAR_010027 VAR_010027 disease phenotype-associated VAR_010027 phenoCommon Enhanced S cone syndrome (ESCS) [MIM:268100] VAR_010028 commonName VAR_010028 VAR_010028 disease not phenotype-associated VAR_010029 commonName VAR_010029 VAR_010029 disease not phenotype-associated VAR_010030 commonName VAR_010030 VAR_010030 disease not phenotype-associated VAR_010031 commonName VAR_010031 VAR_010031 disease phenotype-associated VAR_010031 phenoCommon Enhanced S cone syndrome (ESCS) [MIM:268100] VAR_010032 commonName VAR_010032 VAR_010032 disease not phenotype-associated VAR_010033 commonName VAR_010033 VAR_010033 disease phenotype-associated VAR_010033 phenoCommon Enhanced S cone syndrome (ESCS) [MIM:268100] VAR_010034 commonName VAR_010034 VAR_010034 disease phenotype-associated VAR_010034 phenoCommon Enhanced S cone syndrome (ESCS) [MIM:268100] VAR_010038 commonName VAR_010038 VAR_010038 disease phenotype-associated VAR_010038 phenoCommon Paragangliomas type 1 (PGL1) [MIM:168000] VAR_010038 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_010039 commonName VAR_010039 VAR_010039 disease phenotype-associated VAR_010039 phenoCommon Paragangliomas type 1 (PGL1) [MIM:168000] VAR_010039 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_010040 commonName VAR_010040 VAR_010040 disease phenotype-associated VAR_010040 phenoCommon Paragangliomas type 1 (PGL1) [MIM:168000] VAR_010041 commonName VAR_010041 VAR_010041 disease not phenotype-associated VAR_010042 commonName VAR_010042 VAR_010042 disease not phenotype-associated VAR_010043 commonName VAR_010043 VAR_010043 disease not phenotype-associated VAR_010044 commonName VAR_010044 VAR_010044 disease not phenotype-associated VAR_010045 commonName VAR_010045 VAR_010046 commonName VAR_010046 VAR_010046 disease phenotype-associated VAR_010046 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200] VAR_010048 commonName VAR_010048 VAR_010048 disease phenotype-associated VAR_010048 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200] VAR_010049 commonName VAR_010049 VAR_010049 disease phenotype-associated VAR_010049 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200] VAR_010050 commonName VAR_010050 VAR_010050 disease phenotype-associated VAR_010050 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200] VAR_010051 commonName VAR_010051 VAR_010051 disease phenotype-associated VAR_010051 phenoCommon Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400] VAR_010052 commonName VAR_010052 VAR_010052 disease not phenotype-associated VAR_010053 commonName VAR_010053 VAR_010053 disease phenotype-associated VAR_010053 phenoCommon Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700] VAR_010054 commonName VAR_010054 VAR_010054 disease phenotype-associated VAR_010054 phenoCommon Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700] VAR_010055 commonName VAR_010055 VAR_010055 disease phenotype-associated VAR_010055 phenoCommon Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700] VAR_010056 commonName VAR_010056 VAR_010056 disease phenotype-associated VAR_010056 phenoCommon Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700] VAR_010058 commonName VAR_010058 VAR_010058 disease phenotype-associated VAR_010058 phenoCommon Epimerase-deficiency galactosemia (EDG) [MIM:230350] VAR_010059 commonName VAR_010059 VAR_010059 disease phenotype-associated VAR_010059 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_010060 commonName VAR_010060 VAR_010060 disease phenotype-associated VAR_010060 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_010061 commonName VAR_010061 VAR_010061 disease phenotype-associated VAR_010061 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_010062 commonName VAR_010062 VAR_010062 disease phenotype-associated VAR_010062 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_010063 commonName VAR_010063 VAR_010063 disease phenotype-associated VAR_010063 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_010064 commonName VAR_010064 VAR_010064 disease phenotype-associated VAR_010064 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_010065 commonName VAR_010065 VAR_010065 disease phenotype-associated VAR_010065 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_010066 commonName VAR_010066 VAR_010066 disease phenotype-associated VAR_010066 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_010067 commonName VAR_010067 VAR_010067 disease phenotype-associated VAR_010067 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_010068 commonName VAR_010068 VAR_010068 disease phenotype-associated VAR_010068 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_010069 commonName VAR_010069 VAR_010069 disease phenotype-associated VAR_010069 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_010070 commonName VAR_010070 VAR_010070 disease phenotype-associated VAR_010070 phenoCommon Gaucher disease type 3 (GD3) [MIM:231000] VAR_010071 commonName VAR_010071 VAR_010071 disease phenotype-associated VAR_010071 phenoCommon Gaucher disease type 1 (GD1) [MIM:230800] VAR_010072 commonName VAR_010072 VAR_010072 disease phenotype-associated VAR_010072 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_010076 commonName VAR_010076 VAR_010076 disease phenotype-associated VAR_010076 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] VAR_010077 commonName VAR_010077 VAR_010077 disease phenotype-associated VAR_010077 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] VAR_010078 commonName VAR_010078 VAR_010078 disease phenotype-associated VAR_010078 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] VAR_010079 commonName VAR_010079 VAR_010079 disease phenotype-associated VAR_010079 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] VAR_010080 commonName VAR_010080 VAR_010080 disease phenotype-associated VAR_010080 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] VAR_010081 commonName VAR_010081 VAR_010081 disease phenotype-associated VAR_010081 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] VAR_010082 commonName VAR_010082 VAR_010082 disease phenotype-associated VAR_010082 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] VAR_010083 commonName VAR_010083 VAR_010083 disease phenotype-associated VAR_010083 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] VAR_010084 commonName VAR_010084 VAR_010084 disease phenotype-associated VAR_010084 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] VAR_010085 commonName VAR_010085 VAR_010085 disease phenotype-associated VAR_010085 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_010086 commonName VAR_010086 VAR_010086 disease phenotype-associated VAR_010086 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_010087 commonName VAR_010087 VAR_010087 disease not phenotype-associated VAR_010088 commonName VAR_010088 VAR_010088 disease not phenotype-associated VAR_010089 commonName VAR_010089 VAR_010089 disease phenotype-associated VAR_010089 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_010090 commonName VAR_010090 VAR_010090 disease phenotype-associated VAR_010090 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_010091 commonName VAR_010091 VAR_010091 disease phenotype-associated VAR_010091 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_010092 commonName VAR_010092 VAR_010093 commonName VAR_010093 VAR_010093 disease not phenotype-associated VAR_010095 commonName VAR_010095 VAR_010095 disease not phenotype-associated VAR_010096 commonName VAR_010096 VAR_010096 disease phenotype-associated VAR_010096 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_010097 commonName VAR_010097 VAR_010097 disease phenotype-associated VAR_010097 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_010098 commonName VAR_010098 VAR_010098 disease not phenotype-associated VAR_010099 commonName VAR_010099 VAR_010099 disease phenotype-associated VAR_010099 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_010100 commonName VAR_010100 VAR_010100 disease phenotype-associated VAR_010100 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_010101 commonName VAR_010101 VAR_010101 disease phenotype-associated VAR_010101 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] VAR_010102 commonName VAR_010102 VAR_010102 disease phenotype-associated VAR_010102 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] VAR_010103 commonName VAR_010103 VAR_010103 disease phenotype-associated VAR_010103 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] VAR_010104 commonName VAR_010104 VAR_010104 disease phenotype-associated VAR_010104 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] VAR_010105 commonName VAR_010105 VAR_010105 disease phenotype-associated VAR_010105 phenoCommon Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475] VAR_010107 commonName VAR_010107 VAR_010108 commonName VAR_010108 VAR_010108 disease phenotype-associated VAR_010108 phenoCommon Alzheimer disease type 1 (AD1) [MIM:104300] VAR_010109 commonName VAR_010109 VAR_010109 disease phenotype-associated VAR_010109 phenoCommon Alzheimer disease type 1 (AD1) [MIM:104300] VAR_010110 commonName VAR_010110 VAR_010110 disease phenotype-associated VAR_010110 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] VAR_010111 commonName VAR_010111 VAR_010111 disease phenotype-associated VAR_010111 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] VAR_010111 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_010112 commonName VAR_010112 VAR_010112 disease phenotype-associated VAR_010112 phenoCommon Hyperekplexia, hereditary, type 1 (HKPX1) [MIM:149400] VAR_010113 commonName VAR_010113 VAR_010113 disease phenotype-associated VAR_010113 phenoCommon Hyperekplexia, hereditary, type 1 (HKPX1) [MIM:149400] VAR_010114 commonName VAR_010114 VAR_010114 disease phenotype-associated VAR_010114 phenoCommon Hyperekplexia, hereditary, type 1 (HKPX1) [MIM:149400] VAR_010115 commonName VAR_010115 VAR_010115 disease phenotype-associated VAR_010115 phenoCommon X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367] VAR_010116 commonName VAR_010116 VAR_010116 disease phenotype-associated VAR_010116 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_010116 phenoCommon Congenital hypothyroidism non-goitrous type 5 (CHNG5) [MIM:225250] VAR_010116 phenoCommon Hypoplastic left heart syndrome type 2 (HLHS2) [MIM:614435] VAR_010116 phenoCommon Tetralogy of Fallot (TOF) [MIM:187500] VAR_010117 commonName VAR_010117 VAR_010117 disease phenotype-associated VAR_010117 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_010118 commonName VAR_010118 VAR_010118 disease phenotype-associated VAR_010118 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_010119 commonName VAR_010119 VAR_010119 disease phenotype-associated VAR_010119 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_010120 commonName VAR_010120 VAR_010120 disease phenotype-associated VAR_010120 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_010121 commonName VAR_010121 VAR_010121 disease phenotype-associated VAR_010121 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_010122 commonName VAR_010122 VAR_010122 disease phenotype-associated VAR_010122 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_010123 commonName VAR_010123 VAR_010123 disease phenotype-associated VAR_010123 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_010124 commonName VAR_010124 VAR_010124 disease phenotype-associated VAR_010124 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_010125 commonName VAR_010125 VAR_010125 disease phenotype-associated VAR_010125 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_010126 commonName VAR_010126 VAR_010126 disease phenotype-associated VAR_010126 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_010127 commonName VAR_010127 VAR_010127 disease phenotype-associated VAR_010127 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_010128 commonName VAR_010128 VAR_010128 disease phenotype-associated VAR_010128 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_010129 commonName VAR_010129 VAR_010129 disease phenotype-associated VAR_010129 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_010130 commonName VAR_010130 VAR_010130 disease phenotype-associated VAR_010130 phenoCommon Hailey-Hailey disease (HHD) [MIM:169600] VAR_010131 commonName VAR_010131 VAR_010131 disease phenotype-associated VAR_010131 phenoCommon Hailey-Hailey disease (HHD) [MIM:169600] VAR_010132 commonName VAR_010132 VAR_010132 disease phenotype-associated VAR_010132 phenoCommon Hailey-Hailey disease (HHD) [MIM:169600] VAR_010133 commonName VAR_010133 VAR_010133 disease phenotype-associated VAR_010133 phenoCommon Congenital myasthenic syndrome Engel type (CMSE) [MIM:603034] VAR_010139 commonName VAR_010139 VAR_010139 disease phenotype-associated VAR_010139 phenoCommon Leber congenital amaurosis type 4 (LCA4) [MIM:604393] VAR_010140 commonName VAR_010140 VAR_010140 disease not phenotype-associated VAR_010141 commonName VAR_010141 VAR_010141 disease phenotype-associated VAR_010141 phenoCommon Xeroderma pigmentosum complementation group E (XP-E) [MIM:278740] VAR_010142 commonName VAR_010142 VAR_010142 disease phenotype-associated VAR_010142 phenoCommon Xeroderma pigmentosum complementation group E (XP-E) [MIM:278740] VAR_010144 commonName VAR_010144 VAR_010145 commonName VAR_010145 VAR_010148 commonName VAR_010148 VAR_010148 disease not phenotype-associated VAR_010149 commonName VAR_010149 VAR_010149 disease not phenotype-associated VAR_010154 commonName VAR_010154 VAR_010154 disease phenotype-associated VAR_010154 phenoCommon Luteinizing hormone resistance (LHR) [MIM:238320] VAR_010155 commonName VAR_010155 VAR_010155 disease phenotype-associated VAR_010155 phenoCommon Luteinizing hormone resistance (LHR) [MIM:238320] VAR_010156 commonName VAR_010156 VAR_010156 disease phenotype-associated VAR_010156 phenoCommon Familial male precocious puberty (FMPP) [MIM:176410] VAR_010157 commonName VAR_010157 VAR_010157 disease phenotype-associated VAR_010157 phenoCommon Familial male precocious puberty (FMPP) [MIM:176410] VAR_010158 commonName VAR_010158 VAR_010158 disease phenotype-associated VAR_010158 phenoCommon Luteinizing hormone resistance (LHR) [MIM:238320] VAR_010159 commonName VAR_010159 VAR_010159 disease phenotype-associated VAR_010159 phenoCommon Familial male precocious puberty (FMPP) [MIM:176410] VAR_010160 commonName VAR_010160 VAR_010160 disease phenotype-associated VAR_010160 phenoCommon Familial male precocious puberty (FMPP) [MIM:176410] VAR_010161 commonName VAR_010161 VAR_010161 disease phenotype-associated VAR_010161 phenoCommon Familial male precocious puberty (FMPP) [MIM:176410] VAR_010162 comment Leydig cell tumor VAR_010162 commonName VAR_010162 VAR_010163 commonName VAR_010163 VAR_010163 disease phenotype-associated VAR_010163 phenoCommon Familial male precocious puberty (FMPP) [MIM:176410] VAR_010164 commonName VAR_010164 VAR_010164 disease phenotype-associated VAR_010164 phenoCommon Familial male precocious puberty (FMPP) [MIM:176410] VAR_010165 commonName VAR_010165 VAR_010165 disease phenotype-associated VAR_010165 phenoCommon Generalized epilepsy with febrile seizures plus type 1 (GEFS+1) [MIM:604233] VAR_010166 commonName VAR_010166 VAR_010167 commonName VAR_010167 VAR_010168 commonName VAR_010168 VAR_010169 commonName VAR_010169 VAR_010169 disease phenotype-associated VAR_010169 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_010170 commonName VAR_010170 VAR_010172 commonName VAR_010172 VAR_010172 disease phenotype-associated VAR_010172 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_010173 commonName VAR_010173 VAR_010173 disease phenotype-associated VAR_010173 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_010174 commonName VAR_010174 VAR_010174 disease phenotype-associated VAR_010174 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_010175 commonName VAR_010175 VAR_010175 disease phenotype-associated VAR_010175 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_010176 commonName VAR_010176 VAR_010176 disease phenotype-associated VAR_010176 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_010177 commonName VAR_010177 VAR_010177 disease phenotype-associated VAR_010177 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_010178 commonName VAR_010178 VAR_010178 disease phenotype-associated VAR_010178 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_010179 commonName VAR_010179 VAR_010179 disease phenotype-associated VAR_010179 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_010180 commonName VAR_010180 VAR_010180 disease phenotype-associated VAR_010180 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_010181 commonName VAR_010181 VAR_010181 disease phenotype-associated VAR_010181 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_010182 commonName VAR_010182 VAR_010182 disease phenotype-associated VAR_010182 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_010183 commonName VAR_010183 VAR_010183 disease phenotype-associated VAR_010183 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_010184 commonName VAR_010184 VAR_010184 disease phenotype-associated VAR_010184 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_010185 commonName VAR_010185 VAR_010185 disease phenotype-associated VAR_010185 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_010187 commonName VAR_010187 VAR_010187 disease phenotype-associated VAR_010187 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_010188 commonName VAR_010188 VAR_010189 commonName VAR_010189 VAR_010190 commonName VAR_010190 VAR_010190 disease not phenotype-associated VAR_010191 commonName VAR_010191 VAR_010191 disease not phenotype-associated VAR_010192 commonName VAR_010192 VAR_010192 disease not phenotype-associated VAR_010193 commonName VAR_010193 VAR_010193 disease not phenotype-associated VAR_010194 commonName VAR_010194 VAR_010194 disease not phenotype-associated VAR_010195 commonName VAR_010195 VAR_010195 disease phenotype-associated VAR_010195 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_010196 commonName VAR_010196 VAR_010196 disease phenotype-associated VAR_010196 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_010197 commonName VAR_010197 VAR_010197 disease phenotype-associated VAR_010197 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_010198 commonName VAR_010198 VAR_010198 disease phenotype-associated VAR_010198 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_010199 commonName VAR_010199 VAR_010199 disease phenotype-associated VAR_010199 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_010201 commonName VAR_010201 VAR_010201 disease phenotype-associated VAR_010201 phenoCommon Parietal foramina 1 (PFM1) [MIM:168500] VAR_010202 commonName VAR_010202 VAR_010203 commonName VAR_010203 VAR_010203 disease phenotype-associated VAR_010203 phenoCommon Subcortical band heterotopia (SBH) [MIM:607432] VAR_010204 commonName VAR_010204 VAR_010204 disease not phenotype-associated VAR_010206 commonName VAR_010206 VAR_010206 disease phenotype-associated VAR_010206 phenoCommon Erythrokeratodermia variabilis (EKV) [MIM:133200] VAR_010207 commonName VAR_010207 VAR_010207 disease phenotype-associated VAR_010207 phenoCommon Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050] VAR_010208 commonName VAR_010208 VAR_010208 disease phenotype-associated VAR_010208 phenoCommon Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050] VAR_010209 commonName VAR_010209 VAR_010209 disease not phenotype-associated VAR_010210 commonName VAR_010210 VAR_010210 disease not phenotype-associated VAR_010211 commonName VAR_010211 VAR_010211 disease not phenotype-associated VAR_010212 commonName VAR_010212 VAR_010212 disease not phenotype-associated VAR_010213 commonName VAR_010213 VAR_010213 disease not phenotype-associated VAR_010214 commonName VAR_010214 VAR_010214 disease not phenotype-associated VAR_010215 commonName VAR_010215 VAR_010215 disease not phenotype-associated VAR_010216 commonName VAR_010216 VAR_010216 disease phenotype-associated VAR_010216 phenoCommon Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700] VAR_010217 commonName VAR_010217 VAR_010217 disease not phenotype-associated VAR_010223 commonName VAR_010223 VAR_010223 disease phenotype-associated VAR_010223 phenoCommon Bartter syndrome type 1 (BS1) [MIM:601678] VAR_010224 commonName VAR_010224 VAR_010224 disease phenotype-associated VAR_010224 phenoCommon Bartter syndrome type 1 (BS1) [MIM:601678] VAR_010225 commonName VAR_010225 VAR_010225 disease phenotype-associated VAR_010225 phenoCommon Septooptic dysplasia (SOD) [MIM:182230] VAR_010226 commonName VAR_010226 VAR_010226 disease not phenotype-associated VAR_010230 commonName VAR_010230 VAR_010230 disease not phenotype-associated VAR_010231 commonName VAR_010231 VAR_010231 disease phenotype-associated VAR_010231 phenoCommon Nephrotic syndrome type 2 (NPHS2) [MIM:600995] VAR_010232 commonName VAR_010232 VAR_010232 disease phenotype-associated VAR_010232 phenoCommon Nephrotic syndrome type 2 (NPHS2) [MIM:600995] VAR_010233 commonName VAR_010233 VAR_010233 disease phenotype-associated VAR_010233 phenoCommon Nephrotic syndrome type 2 (NPHS2) [MIM:600995] VAR_010234 commonName VAR_010234 VAR_010234 disease phenotype-associated VAR_010234 phenoCommon Nephrotic syndrome type 2 (NPHS2) [MIM:600995] VAR_010235 commonName VAR_010235 VAR_010235 disease phenotype-associated VAR_010235 phenoCommon Nephrotic syndrome type 2 (NPHS2) [MIM:600995] VAR_010236 commonName VAR_010236 VAR_010236 disease phenotype-associated VAR_010236 phenoCommon Nephrotic syndrome type 2 (NPHS2) [MIM:600995] VAR_010237 commonName VAR_010237 VAR_010237 disease phenotype-associated VAR_010237 phenoCommon Mohr-Tranebjaerg syndrome (MTS) [MIM:304700] VAR_010238 commonName VAR_010238 VAR_010238 disease phenotype-associated VAR_010238 phenoCommon Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] VAR_010241 commonName VAR_010241 VAR_010241 disease not phenotype-associated VAR_010242 commonName VAR_010242 VAR_010242 disease phenotype-associated VAR_010242 phenoCommon Von Willebrand disease type 1 (VWD1) [MIM:193400] VAR_010242 phenoCommon Von Willebrand disease type 3 (VWD3) [MIM:277480] VAR_010248 commonName VAR_010248 VAR_010248 disease phenotype-associated VAR_010248 phenoCommon Thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270] VAR_010249 commonName VAR_010249 VAR_010249 disease phenotype-associated VAR_010249 phenoCommon Thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270] VAR_010250 commonName VAR_010250 VAR_010250 disease phenotype-associated VAR_010250 phenoCommon Thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270] VAR_010251 commonName VAR_010251 VAR_010251 disease not phenotype-associated VAR_010252 commonName VAR_010252 VAR_010252 disease not phenotype-associated VAR_010254 commonName VAR_010254 VAR_010254 disease not phenotype-associated VAR_010255 commonName VAR_010255 VAR_010256 commonName VAR_010256 VAR_010256 disease phenotype-associated VAR_010256 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100] VAR_010257 commonName VAR_010257 VAR_010257 disease phenotype-associated VAR_010257 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100] VAR_010258 commonName VAR_010258 VAR_010258 disease phenotype-associated VAR_010258 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100] VAR_010259 commonName VAR_010259 VAR_010259 disease phenotype-associated VAR_010259 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100] VAR_010260 commonName VAR_010260 VAR_010260 disease phenotype-associated VAR_010260 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100] VAR_010261 commonName VAR_010261 VAR_010261 disease phenotype-associated VAR_010261 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700] VAR_010262 commonName VAR_010262 VAR_010262 disease phenotype-associated VAR_010262 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700] VAR_010263 commonName VAR_010263 VAR_010263 disease phenotype-associated VAR_010263 phenoCommon Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400] VAR_010264 commonName VAR_010264 VAR_010264 disease not phenotype-associated VAR_010265 commonName VAR_010265 VAR_010265 disease phenotype-associated VAR_010265 phenoCommon Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400] VAR_010266 commonName VAR_010266 VAR_010266 disease phenotype-associated VAR_010266 phenoCommon Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400] VAR_010267 commonName VAR_010267 VAR_010267 disease phenotype-associated VAR_010267 phenoCommon Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400] VAR_010268 commonName VAR_010268 VAR_010269 commonName VAR_010269 VAR_010269 disease phenotype-associated VAR_010269 phenoCommon Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400] VAR_010270 commonName VAR_010270 VAR_010271 commonName VAR_010271 VAR_010271 disease phenotype-associated VAR_010271 phenoCommon Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479] VAR_010271 phenoCommon Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847] VAR_010272 commonName VAR_010272 VAR_010272 disease phenotype-associated VAR_010272 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_010273 commonName VAR_010273 VAR_010273 disease phenotype-associated VAR_010273 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_010274 commonName VAR_010274 VAR_010274 disease phenotype-associated VAR_010274 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_010275 commonName VAR_010275 VAR_010275 disease phenotype-associated VAR_010275 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_010276 commonName VAR_010276 VAR_010276 disease phenotype-associated VAR_010276 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_010277 commonName VAR_010277 VAR_010277 disease phenotype-associated VAR_010277 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_010278 commonName VAR_010278 VAR_010278 disease phenotype-associated VAR_010278 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_010279 commonName VAR_010279 VAR_010279 disease phenotype-associated VAR_010279 phenoCommon Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055] VAR_010280 commonName VAR_010280 VAR_010280 disease phenotype-associated VAR_010280 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_010281 commonName VAR_010281 VAR_010281 disease not phenotype-associated VAR_010282 commonName VAR_010282 VAR_010282 disease phenotype-associated VAR_010282 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_010283 commonName VAR_010283 VAR_010283 disease not phenotype-associated VAR_010285 commonName VAR_010285 VAR_010285 disease not phenotype-associated VAR_010286 commonName VAR_010286 VAR_010286 disease phenotype-associated VAR_010286 phenoCommon Cystinosis nephropathic type (CTNS) [MIM:219800] VAR_010289 commonName VAR_010289 VAR_010289 disease not phenotype-associated VAR_010290 commonName VAR_010290 VAR_010290 disease not phenotype-associated VAR_010291 commonName VAR_010291 VAR_010291 disease not phenotype-associated VAR_010292 commonName VAR_010292 VAR_010292 disease not phenotype-associated VAR_010293 commonName VAR_010293 VAR_010293 disease phenotype-associated VAR_010293 phenoCommon Ehlers-Danlos syndrome progeroid type (EDSP) [MIM:130070] VAR_010294 commonName VAR_010294 VAR_010294 disease phenotype-associated VAR_010294 phenoCommon Ehlers-Danlos syndrome progeroid type (EDSP) [MIM:130070] VAR_010295 commonName VAR_010295 VAR_010295 disease not phenotype-associated VAR_010296 commonName VAR_010296 VAR_010296 disease not phenotype-associated VAR_010303 commonName VAR_010303 VAR_010303 disease phenotype-associated VAR_010303 phenoCommon Deafness autosomal recessive type 3 (DFNB3) [MIM:600316] VAR_010304 commonName VAR_010304 VAR_010304 disease phenotype-associated VAR_010304 phenoCommon Deafness autosomal recessive type 3 (DFNB3) [MIM:600316] VAR_010305 commonName VAR_010305 VAR_010305 disease not phenotype-associated VAR_010306 commonName VAR_010306 VAR_010306 disease phenotype-associated VAR_010306 phenoCommon Congenital disorder of glycosylation type 1D (CDG1D) [MIM:601110] VAR_010313 commonName VAR_010313 VAR_010313 disease not phenotype-associated VAR_010314 commonName VAR_010314 VAR_010314 disease not phenotype-associated VAR_010315 commonName VAR_010315 VAR_010315 disease not phenotype-associated VAR_010316 commonName VAR_010316 VAR_010316 disease not phenotype-associated VAR_010317 commonName VAR_010317 VAR_010317 disease not phenotype-associated VAR_010319 commonName VAR_010319 VAR_010319 disease not phenotype-associated VAR_010320 commonName VAR_010320 VAR_010320 disease not phenotype-associated VAR_010321 commonName VAR_010321 VAR_010321 disease not phenotype-associated VAR_010322 commonName VAR_010322 VAR_010322 disease not phenotype-associated VAR_010323 commonName VAR_010323 VAR_010323 disease not phenotype-associated VAR_010324 commonName VAR_010324 VAR_010324 disease not phenotype-associated VAR_010325 commonName VAR_010325 VAR_010325 disease not phenotype-associated VAR_010326 commonName VAR_010326 VAR_010326 disease not phenotype-associated VAR_010327 commonName VAR_010327 VAR_010327 disease not phenotype-associated VAR_010328 commonName VAR_010328 VAR_010328 disease not phenotype-associated VAR_010329 commonName VAR_010329 VAR_010329 disease not phenotype-associated VAR_010330 commonName VAR_010330 VAR_010330 disease not phenotype-associated VAR_010336 commonName VAR_010336 VAR_010336 disease not phenotype-associated VAR_010337 commonName VAR_010337 VAR_010337 disease phenotype-associated VAR_010337 phenoCommon Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050] VAR_010338 commonName VAR_010338 VAR_010338 disease phenotype-associated VAR_010338 phenoCommon Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050] VAR_010339 commonName VAR_010339 VAR_010339 disease phenotype-associated VAR_010339 phenoCommon Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050] VAR_010354 commonName VAR_010354 VAR_010354 disease not phenotype-associated VAR_010355 commonName VAR_010355 VAR_010355 disease not phenotype-associated VAR_010356 commonName VAR_010356 VAR_010356 disease not phenotype-associated VAR_010357 commonName VAR_010357 VAR_010357 disease not phenotype-associated VAR_010358 comment An ovarian clear cell adenocarcinoma VAR_010358 commonName VAR_010358 VAR_010359 commonName VAR_010359 VAR_010359 disease not phenotype-associated VAR_010360 comment A breast cancer sample VAR_010360 commonName VAR_010360 VAR_010361 comment An uterine cancer sample VAR_010361 commonName VAR_010361 VAR_010376 commonName VAR_010376 VAR_010376 disease not phenotype-associated VAR_010378 commonName VAR_010378 VAR_010378 disease phenotype-associated VAR_010378 phenoCommon Focal segmental glomerulosclerosis type 1 (FSGS1) [MIM:603278] VAR_010379 commonName VAR_010379 VAR_010379 disease phenotype-associated VAR_010379 phenoCommon Focal segmental glomerulosclerosis type 1 (FSGS1) [MIM:603278] VAR_010380 commonName VAR_010380 VAR_010380 disease phenotype-associated VAR_010380 phenoCommon Focal segmental glomerulosclerosis type 1 (FSGS1) [MIM:603278] VAR_010381 commonName VAR_010381 VAR_010381 disease not phenotype-associated VAR_010382 commonName VAR_010382 VAR_010382 disease not phenotype-associated VAR_010383 commonName VAR_010383 VAR_010383 disease not phenotype-associated VAR_010384 commonName VAR_010384 VAR_010384 disease not phenotype-associated VAR_010385 commonName VAR_010385 VAR_010385 disease phenotype-associated VAR_010385 phenoCommon Left-right axis malformations (LRAM) [MIM:601877] VAR_010386 commonName VAR_010386 VAR_010386 disease not phenotype-associated VAR_010387 commonName VAR_010387 VAR_010387 disease phenotype-associated VAR_010387 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] VAR_010388 commonName VAR_010388 VAR_010388 disease phenotype-associated VAR_010388 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] VAR_010389 commonName VAR_010389 VAR_010389 disease phenotype-associated VAR_010389 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] VAR_010390 commonName VAR_010390 VAR_010390 disease phenotype-associated VAR_010390 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] VAR_010391 commonName VAR_010391 VAR_010391 disease phenotype-associated VAR_010391 phenoCommon Limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286] VAR_010392 commonName VAR_010392 VAR_010392 disease phenotype-associated VAR_010392 phenoCommon Limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286] VAR_010393 commonName VAR_010393 VAR_010393 disease phenotype-associated VAR_010393 phenoCommon Limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286] VAR_010394 commonName VAR_010394 VAR_010394 disease phenotype-associated VAR_010394 phenoCommon Limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286] VAR_010395 commonName VAR_010395 VAR_010395 disease phenotype-associated VAR_010395 phenoCommon Limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286] VAR_010396 commonName VAR_010396 VAR_010396 disease phenotype-associated VAR_010396 phenoCommon Limb-girdle muscular dystrophy type 2F (LGMD2F) [MIM:601287] VAR_010397 commonName VAR_010397 VAR_010397 disease not phenotype-associated VAR_010398 commonName VAR_010398 VAR_010398 disease phenotype-associated VAR_010398 phenoCommon Limb-girdle muscular dystrophy type 2C (LGMD2C) [MIM:253700] VAR_010399 commonName VAR_010399 VAR_010399 disease not phenotype-associated VAR_010400 commonName VAR_010400 VAR_010400 disease not phenotype-associated VAR_010401 commonName VAR_010401 VAR_010401 disease not phenotype-associated VAR_010402 commonName VAR_010402 VAR_010402 disease phenotype-associated VAR_010402 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] VAR_010403 commonName VAR_010403 VAR_010403 disease phenotype-associated VAR_010403 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] VAR_010404 commonName VAR_010404 VAR_010404 disease phenotype-associated VAR_010404 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] VAR_010405 commonName VAR_010405 VAR_010405 disease phenotype-associated VAR_010405 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] VAR_010406 commonName VAR_010406 VAR_010406 disease phenotype-associated VAR_010406 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] VAR_010407 commonName VAR_010407 VAR_010407 disease phenotype-associated VAR_010407 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] VAR_010408 commonName VAR_010408 VAR_010408 disease phenotype-associated VAR_010408 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] VAR_010409 commonName VAR_010409 VAR_010409 disease phenotype-associated VAR_010409 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] VAR_010410 commonName VAR_010410 VAR_010410 disease phenotype-associated VAR_010410 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] VAR_010411 commonName VAR_010411 VAR_010411 disease phenotype-associated VAR_010411 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] VAR_010412 commonName VAR_010412 VAR_010412 disease phenotype-associated VAR_010412 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] VAR_010413 commonName VAR_010413 VAR_010413 disease phenotype-associated VAR_010413 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] VAR_010414 commonName VAR_010414 VAR_010414 disease phenotype-associated VAR_010414 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] VAR_010415 commonName VAR_010415 VAR_010415 disease phenotype-associated VAR_010415 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] VAR_010416 commonName VAR_010416 VAR_010416 disease phenotype-associated VAR_010416 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] VAR_010417 commonName VAR_010417 VAR_010417 disease phenotype-associated VAR_010417 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] VAR_010418 commonName VAR_010418 VAR_010418 disease phenotype-associated VAR_010418 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] VAR_010419 commonName VAR_010419 VAR_010419 disease phenotype-associated VAR_010419 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] VAR_010420 commonName VAR_010420 VAR_010420 disease phenotype-associated VAR_010420 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] VAR_010421 commonName VAR_010421 VAR_010422 commonName VAR_010422 VAR_010422 disease phenotype-associated VAR_010422 phenoCommon Limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286] VAR_010423 commonName VAR_010423 VAR_010424 commonName VAR_010424 VAR_010424 disease phenotype-associated VAR_010424 phenoCommon Limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286] VAR_010425 commonName VAR_010425 VAR_010426 commonName VAR_010426 VAR_010426 disease phenotype-associated VAR_010426 phenoCommon Limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286] VAR_010427 commonName VAR_010427 VAR_010428 commonName VAR_010428 VAR_010429 commonName VAR_010429 VAR_010429 disease not phenotype-associated VAR_010430 commonName VAR_010430 VAR_010430 disease phenotype-associated VAR_010430 phenoCommon Limb-girdle muscular dystrophy type 2C (LGMD2C) [MIM:253700] VAR_010431 commonName VAR_010431 VAR_010431 disease phenotype-associated VAR_010431 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] VAR_010432 commonName VAR_010432 VAR_010432 disease phenotype-associated VAR_010432 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] VAR_010433 commonName VAR_010433 VAR_010433 disease phenotype-associated VAR_010433 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] VAR_010434 commonName VAR_010434 VAR_010434 disease phenotype-associated VAR_010434 phenoCommon Symptomatic deficiency in lactate transport (SDLT) [MIM:245340] VAR_010435 commonName VAR_010435 VAR_010435 disease phenotype-associated VAR_010435 phenoCommon Symptomatic deficiency in lactate transport (SDLT) [MIM:245340] VAR_010436 commonName VAR_010436 VAR_010436 disease not phenotype-associated VAR_010437 commonName VAR_010437 VAR_010437 disease not phenotype-associated VAR_010438 commonName VAR_010438 VAR_010438 disease phenotype-associated VAR_010438 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_010439 commonName VAR_010439 VAR_010439 disease not phenotype-associated VAR_010440 commonName VAR_010440 VAR_010440 disease phenotype-associated VAR_010440 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] VAR_010441 commonName VAR_010441 VAR_010441 disease phenotype-associated VAR_010441 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] VAR_010442 commonName VAR_010442 VAR_010442 disease phenotype-associated VAR_010442 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] VAR_010442 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] VAR_010443 commonName VAR_010443 VAR_010443 disease phenotype-associated VAR_010443 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] VAR_010444 commonName VAR_010444 VAR_010444 disease phenotype-associated VAR_010444 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] VAR_010445 commonName VAR_010445 VAR_010445 disease phenotype-associated VAR_010445 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] VAR_010446 commonName VAR_010446 VAR_010446 disease phenotype-associated VAR_010446 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] VAR_010447 commonName VAR_010447 VAR_010447 disease phenotype-associated VAR_010447 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] VAR_010448 commonName VAR_010448 VAR_010448 disease phenotype-associated VAR_010448 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_010449 commonName VAR_010449 VAR_010449 disease phenotype-associated VAR_010449 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_010450 commonName VAR_010450 VAR_010450 disease phenotype-associated VAR_010450 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_010451 commonName VAR_010451 VAR_010451 disease phenotype-associated VAR_010451 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_010452 commonName VAR_010452 VAR_010452 disease phenotype-associated VAR_010452 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_010453 commonName VAR_010453 VAR_010453 disease phenotype-associated VAR_010453 phenoCommon Epidermolysis bullosa simplex with mottled pigmentation (MP-EBS) [MIM:131960] VAR_010454 commonName VAR_010454 VAR_010454 disease phenotype-associated VAR_010454 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_010455 commonName VAR_010455 VAR_010455 disease phenotype-associated VAR_010455 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] VAR_010456 commonName VAR_010456 VAR_010456 disease phenotype-associated VAR_010456 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] VAR_010457 commonName VAR_010457 VAR_010457 disease phenotype-associated VAR_010457 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] VAR_010458 commonName VAR_010458 VAR_010458 disease phenotype-associated VAR_010458 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] VAR_010459 commonName VAR_010459 VAR_010459 disease phenotype-associated VAR_010459 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] VAR_010460 commonName VAR_010460 VAR_010460 disease phenotype-associated VAR_010460 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] VAR_010461 commonName VAR_010461 VAR_010461 disease phenotype-associated VAR_010461 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] VAR_010462 commonName VAR_010462 VAR_010462 disease phenotype-associated VAR_010462 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_010463 commonName VAR_010463 VAR_010463 disease phenotype-associated VAR_010463 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_010464 commonName VAR_010464 VAR_010464 disease phenotype-associated VAR_010464 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_010465 commonName VAR_010465 VAR_010465 disease phenotype-associated VAR_010465 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_010466 commonName VAR_010466 VAR_010466 disease phenotype-associated VAR_010466 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] VAR_010467 commonName VAR_010467 VAR_010467 disease phenotype-associated VAR_010467 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] VAR_010468 commonName VAR_010468 VAR_010468 disease phenotype-associated VAR_010468 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_010469 commonName VAR_010469 VAR_010469 disease phenotype-associated VAR_010469 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_010470 commonName VAR_010470 VAR_010470 disease phenotype-associated VAR_010470 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_010471 commonName VAR_010471 VAR_010471 disease phenotype-associated VAR_010471 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_010472 commonName VAR_010472 VAR_010472 disease phenotype-associated VAR_010472 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_010473 commonName VAR_010473 VAR_010473 disease phenotype-associated VAR_010473 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_010474 commonName VAR_010474 VAR_010474 disease phenotype-associated VAR_010474 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_010475 commonName VAR_010475 VAR_010475 disease phenotype-associated VAR_010475 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_010476 commonName VAR_010476 VAR_010476 disease phenotype-associated VAR_010476 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_010477 commonName VAR_010477 VAR_010477 disease not phenotype-associated VAR_010478 commonName VAR_010478 VAR_010478 disease phenotype-associated VAR_010478 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_010479 commonName VAR_010479 VAR_010479 disease phenotype-associated VAR_010479 phenoCommon Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161] VAR_010480 commonName VAR_010480 VAR_010481 commonName VAR_010481 VAR_010481 disease phenotype-associated VAR_010481 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_010482 commonName VAR_010482 VAR_010482 disease phenotype-associated VAR_010482 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_010483 commonName VAR_010483 VAR_010483 disease phenotype-associated VAR_010483 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_010484 commonName VAR_010484 VAR_010484 disease phenotype-associated VAR_010484 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_010485 commonName VAR_010485 VAR_010485 disease phenotype-associated VAR_010485 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_010486 commonName VAR_010486 VAR_010486 disease phenotype-associated VAR_010486 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_010487 commonName VAR_010487 VAR_010487 disease phenotype-associated VAR_010487 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_010492 commonName VAR_010492 VAR_010492 disease phenotype-associated VAR_010492 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802] VAR_010493 commonName VAR_010493 VAR_010493 disease phenotype-associated VAR_010493 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802] VAR_010494 commonName VAR_010494 VAR_010494 disease phenotype-associated VAR_010494 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802] VAR_010496 commonName VAR_010496 VAR_010496 disease not phenotype-associated VAR_010497 commonName VAR_010497 VAR_010497 disease phenotype-associated VAR_010497 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802] VAR_010498 commonName VAR_010498 VAR_010498 disease phenotype-associated VAR_010498 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802] VAR_010499 commonName VAR_010499 VAR_010499 disease phenotype-associated VAR_010499 phenoCommon Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200] VAR_010500 commonName VAR_010500 VAR_010500 disease phenotype-associated VAR_010500 phenoCommon Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200] VAR_010501 commonName VAR_010501 VAR_010501 disease phenotype-associated VAR_010501 phenoCommon Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200] VAR_010502 commonName VAR_010502 VAR_010502 disease phenotype-associated VAR_010502 phenoCommon Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200] VAR_010503 commonName VAR_010503 VAR_010503 disease phenotype-associated VAR_010503 phenoCommon Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200] VAR_010504 commonName VAR_010504 VAR_010504 disease phenotype-associated VAR_010504 phenoCommon Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200] VAR_010505 commonName VAR_010505 VAR_010505 disease not phenotype-associated VAR_010506 commonName VAR_010506 VAR_010506 disease phenotype-associated VAR_010506 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800] VAR_010507 commonName VAR_010507 VAR_010508 commonName VAR_010508 VAR_010508 disease phenotype-associated VAR_010508 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800] VAR_010509 commonName VAR_010509 VAR_010509 disease phenotype-associated VAR_010509 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800] VAR_010510 commonName VAR_010510 VAR_010510 disease phenotype-associated VAR_010510 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800] VAR_010511 commonName VAR_010511 VAR_010511 disease phenotype-associated VAR_010511 phenoCommon Ichthyosis annular epidermolytic (AEI) [MIM:607602] VAR_010512 commonName VAR_010512 VAR_010512 disease phenotype-associated VAR_010512 phenoCommon Pachyonychia congenita type 2 (PC2) [MIM:167210] VAR_010512 phenoCommon Steatocystoma multiplex (SM) [MIM:184500] VAR_010513 commonName VAR_010513 VAR_010513 disease phenotype-associated VAR_010513 phenoCommon Pachyonychia congenita type 2 (PC2) [MIM:167210] VAR_010513 phenoCommon Steatocystoma multiplex (SM) [MIM:184500] VAR_010514 commonName VAR_010514 VAR_010514 disease phenotype-associated VAR_010514 phenoCommon Ichthyosis bullosa of Siemens (IBS) [MIM:146800] VAR_010515 commonName VAR_010515 VAR_010515 disease phenotype-associated VAR_010515 phenoCommon Ichthyosis bullosa of Siemens (IBS) [MIM:146800] VAR_010516 commonName VAR_010516 VAR_010516 disease phenotype-associated VAR_010516 phenoCommon Ichthyosis bullosa of Siemens (IBS) [MIM:146800] VAR_010517 commonName VAR_010517 VAR_010517 disease phenotype-associated VAR_010517 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810] VAR_010518 commonName VAR_010518 VAR_010518 disease phenotype-associated VAR_010518 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810] VAR_010519 commonName VAR_010519 VAR_010519 disease phenotype-associated VAR_010519 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810] VAR_010520 commonName VAR_010520 VAR_010520 disease phenotype-associated VAR_010520 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810] VAR_010521 commonName VAR_010521 VAR_010521 disease phenotype-associated VAR_010521 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810] VAR_010522 commonName VAR_010522 VAR_010522 disease phenotype-associated VAR_010522 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810] VAR_010523 commonName VAR_010523 VAR_010523 disease phenotype-associated VAR_010523 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810] VAR_010524 commonName VAR_010524 VAR_010524 disease phenotype-associated VAR_010524 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810] VAR_010525 commonName VAR_010525 VAR_010525 disease phenotype-associated VAR_010525 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810] VAR_010526 commonName VAR_010526 VAR_010526 disease phenotype-associated VAR_010526 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810] VAR_010527 commonName VAR_010527 VAR_010527 disease phenotype-associated VAR_010527 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810] VAR_010528 commonName VAR_010528 VAR_010528 disease phenotype-associated VAR_010528 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810] VAR_010529 commonName VAR_010529 VAR_010529 disease phenotype-associated VAR_010529 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810] VAR_010530 commonName VAR_010530 VAR_010530 disease phenotype-associated VAR_010530 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810] VAR_010531 commonName VAR_010531 VAR_010531 disease phenotype-associated VAR_010531 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810] VAR_010533 commonName VAR_010533 VAR_010533 disease phenotype-associated VAR_010533 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810] VAR_010534 commonName VAR_010534 VAR_010534 disease phenotype-associated VAR_010534 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810] VAR_010535 commonName VAR_010535 VAR_010535 disease phenotype-associated VAR_010535 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810] VAR_010536 commonName VAR_010536 VAR_010536 disease phenotype-associated VAR_010536 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067] VAR_010537 commonName VAR_010537 VAR_010537 disease phenotype-associated VAR_010537 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] VAR_010538 commonName VAR_010538 VAR_010538 disease phenotype-associated VAR_010538 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] VAR_010539 commonName VAR_010539 VAR_010539 disease phenotype-associated VAR_010539 phenoCommon Diabetes mellitus insulin-dependent type 20 (IDDM20) [MIM:612520] VAR_010540 commonName VAR_010540 VAR_010540 disease not phenotype-associated VAR_010541 commonName VAR_010541 VAR_010541 disease phenotype-associated VAR_010541 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] VAR_010542 commonName VAR_010542 VAR_010542 disease phenotype-associated VAR_010542 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] VAR_010543 commonName VAR_010543 VAR_010543 disease phenotype-associated VAR_010543 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] VAR_010544 commonName VAR_010544 VAR_010544 disease phenotype-associated VAR_010544 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] VAR_010545 commonName VAR_010545 VAR_010545 disease phenotype-associated VAR_010545 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] VAR_010546 commonName VAR_010546 VAR_010546 disease phenotype-associated VAR_010546 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] VAR_010547 commonName VAR_010547 VAR_010547 disease phenotype-associated VAR_010547 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] VAR_010548 commonName VAR_010548 VAR_010548 disease phenotype-associated VAR_010548 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] VAR_010549 commonName VAR_010549 VAR_010549 disease phenotype-associated VAR_010549 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] VAR_010550 commonName VAR_010550 VAR_010550 disease phenotype-associated VAR_010550 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] VAR_010551 commonName VAR_010551 VAR_010551 disease phenotype-associated VAR_010551 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] VAR_010552 commonName VAR_010552 VAR_010554 commonName VAR_010554 VAR_010554 disease phenotype-associated VAR_010554 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] VAR_010555 commonName VAR_010555 VAR_010555 disease phenotype-associated VAR_010555 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] VAR_010556 commonName VAR_010556 VAR_010556 disease phenotype-associated VAR_010556 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] VAR_010557 commonName VAR_010557 VAR_010557 disease phenotype-associated VAR_010557 phenoCommon Diabetes mellitus insulin-dependent type 20 (IDDM20) [MIM:612520] VAR_010557 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] VAR_010558 commonName VAR_010558 VAR_010558 disease not phenotype-associated VAR_010559 commonName VAR_010559 VAR_010559 disease phenotype-associated VAR_010559 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] VAR_010560 commonName VAR_010560 VAR_010560 disease phenotype-associated VAR_010560 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] VAR_010561 commonName VAR_010561 VAR_010561 disease phenotype-associated VAR_010561 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] VAR_010562 commonName VAR_010562 VAR_010562 disease phenotype-associated VAR_010562 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] VAR_010563 commonName VAR_010563 VAR_010564 commonName VAR_010564 VAR_010565 commonName VAR_010565 VAR_010565 disease phenotype-associated VAR_010565 phenoCommon Diabetes mellitus insulin-dependent type 20 (IDDM20) [MIM:612520] VAR_010574 commonName VAR_010574 VAR_010574 disease phenotype-associated VAR_010574 phenoCommon Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038] VAR_010575 commonName VAR_010575 VAR_010575 disease phenotype-associated VAR_010575 phenoCommon Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038] VAR_010576 commonName VAR_010576 VAR_010576 disease phenotype-associated VAR_010576 phenoCommon Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038] VAR_010577 commonName VAR_010577 VAR_010577 disease not phenotype-associated VAR_010578 commonName VAR_010578 VAR_010578 disease not phenotype-associated VAR_010579 commonName VAR_010579 VAR_010579 disease not phenotype-associated VAR_010580 commonName VAR_010580 VAR_010580 disease not phenotype-associated VAR_010581 commonName VAR_010581 VAR_010581 disease not phenotype-associated VAR_010582 commonName VAR_010582 VAR_010582 disease not phenotype-associated VAR_010583 commonName VAR_010583 VAR_010583 disease not phenotype-associated VAR_010584 commonName VAR_010584 VAR_010584 disease phenotype-associated VAR_010584 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_010585 commonName VAR_010585 VAR_010585 disease phenotype-associated VAR_010585 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_010586 commonName VAR_010586 VAR_010586 disease phenotype-associated VAR_010586 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_010587 commonName VAR_010587 VAR_010587 disease phenotype-associated VAR_010587 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_010588 commonName VAR_010588 VAR_010588 disease phenotype-associated VAR_010588 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_010589 commonName VAR_010589 VAR_010589 disease phenotype-associated VAR_010589 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_010590 commonName VAR_010590 VAR_010590 disease phenotype-associated VAR_010590 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_010591 commonName VAR_010591 VAR_010591 disease phenotype-associated VAR_010591 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_010592 commonName VAR_010592 VAR_010592 disease phenotype-associated VAR_010592 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_010593 commonName VAR_010593 VAR_010593 disease phenotype-associated VAR_010593 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_010594 commonName VAR_010594 VAR_010594 disease phenotype-associated VAR_010594 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_010595 commonName VAR_010595 VAR_010595 disease phenotype-associated VAR_010595 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_010596 commonName VAR_010596 VAR_010596 disease phenotype-associated VAR_010596 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_010597 commonName VAR_010597 VAR_010597 disease phenotype-associated VAR_010597 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_010598 commonName VAR_010598 VAR_010598 disease phenotype-associated VAR_010598 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_010599 commonName VAR_010599 VAR_010599 disease phenotype-associated VAR_010599 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_010600 commonName VAR_010600 VAR_010601 commonName VAR_010601 VAR_010601 disease phenotype-associated VAR_010601 phenoCommon Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850] VAR_010602 commonName VAR_010602 VAR_010602 disease not phenotype-associated VAR_010603 commonName VAR_010603 VAR_010603 disease not phenotype-associated VAR_010605 commonName VAR_010605 VAR_010605 disease phenotype-associated VAR_010605 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_010606 commonName VAR_010606 VAR_010606 disease phenotype-associated VAR_010606 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_010607 commonName VAR_010607 VAR_010607 disease phenotype-associated VAR_010607 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_010608 commonName VAR_010608 VAR_010608 disease phenotype-associated VAR_010608 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_010609 commonName VAR_010609 VAR_010609 disease phenotype-associated VAR_010609 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_010610 commonName VAR_010610 VAR_010610 disease phenotype-associated VAR_010610 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_010611 commonName VAR_010611 VAR_010611 disease phenotype-associated VAR_010611 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_010612 commonName VAR_010612 VAR_010612 disease phenotype-associated VAR_010612 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_010613 commonName VAR_010613 VAR_010613 disease phenotype-associated VAR_010613 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_010614 commonName VAR_010614 VAR_010614 disease phenotype-associated VAR_010614 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_010615 commonName VAR_010615 VAR_010615 disease phenotype-associated VAR_010615 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_010616 commonName VAR_010616 VAR_010616 disease phenotype-associated VAR_010616 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] VAR_010617 commonName VAR_010617 VAR_010617 disease phenotype-associated VAR_010617 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] VAR_010618 commonName VAR_010618 VAR_010618 disease phenotype-associated VAR_010618 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] VAR_010619 commonName VAR_010619 VAR_010619 disease phenotype-associated VAR_010619 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] VAR_010620 commonName VAR_010620 VAR_010620 disease phenotype-associated VAR_010620 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] VAR_010621 commonName VAR_010621 VAR_010621 disease phenotype-associated VAR_010621 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] VAR_010622 commonName VAR_010622 VAR_010622 disease phenotype-associated VAR_010622 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] VAR_010623 commonName VAR_010623 VAR_010623 disease phenotype-associated VAR_010623 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] VAR_010626 commonName VAR_010626 VAR_010626 disease phenotype-associated VAR_010626 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] VAR_010627 commonName VAR_010627 VAR_010627 disease phenotype-associated VAR_010627 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] VAR_010628 commonName VAR_010628 VAR_010628 disease phenotype-associated VAR_010628 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] VAR_010629 commonName VAR_010629 VAR_010629 disease phenotype-associated VAR_010629 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] VAR_010630 commonName VAR_010630 VAR_010630 disease phenotype-associated VAR_010630 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] VAR_010631 commonName VAR_010631 VAR_010631 disease phenotype-associated VAR_010631 phenoCommon Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] VAR_010640 commonName VAR_010640 VAR_010640 disease not phenotype-associated VAR_010641 commonName VAR_010641 VAR_010641 disease not phenotype-associated VAR_010642 commonName VAR_010642 VAR_010642 disease phenotype-associated VAR_010642 phenoCommon Abetalipoproteinemia (ABL) [MIM:200100] VAR_010643 commonName VAR_010643 VAR_010643 disease phenotype-associated VAR_010643 phenoCommon Abetalipoproteinemia (ABL) [MIM:200100] VAR_010644 commonName VAR_010644 VAR_010644 disease phenotype-associated VAR_010644 phenoCommon Abetalipoproteinemia (ABL) [MIM:200100] VAR_010645 commonName VAR_010645 VAR_010645 disease not phenotype-associated VAR_010646 commonName VAR_010646 VAR_010646 disease not phenotype-associated VAR_010647 commonName VAR_010647 VAR_010647 disease not phenotype-associated VAR_010648 commonName VAR_010648 VAR_010648 disease phenotype-associated VAR_010648 phenoCommon Cone dystrophy type 3 (COD3) [MIM:602093] VAR_010649 commonName VAR_010649 VAR_010649 disease phenotype-associated VAR_010649 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_010651 commonName VAR_010651 VAR_010651 disease phenotype-associated VAR_010651 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_010652 commonName VAR_010652 VAR_010652 disease phenotype-associated VAR_010652 phenoCommon Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730] VAR_010654 commonName VAR_010654 VAR_010654 disease phenotype-associated VAR_010654 phenoCommon Griscelli syndrome type 2 (GS2) [MIM:607624] VAR_010657 commonName VAR_010657 VAR_010657 disease not phenotype-associated VAR_010658 commonName VAR_010658 VAR_010658 disease phenotype-associated VAR_010658 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_010659 commonName VAR_010659 VAR_010659 disease phenotype-associated VAR_010659 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_010660 commonName VAR_010660 VAR_010660 disease not phenotype-associated VAR_010661 commonName VAR_010661 VAR_010661 disease phenotype-associated VAR_010661 phenoCommon Alpha-methylacyl-CoA racemase deficiency (AMACRD) [MIM:614307] VAR_010661 phenoCommon Congenital bile acid synthesis defect type 4 (CBAS4) [MIM:214950] VAR_010662 commonName VAR_010662 VAR_010662 disease not phenotype-associated VAR_010663 commonName VAR_010663 VAR_010663 disease not phenotype-associated VAR_010664 commonName VAR_010664 VAR_010664 disease not phenotype-associated VAR_010665 commonName VAR_010665 VAR_010665 disease phenotype-associated VAR_010665 phenoCommon Congenital bile acid synthesis defect type 4 (CBAS4) [MIM:214950] VAR_010666 comment CPT-resistant leukemia VAR_010666 commonName VAR_010666 VAR_010667 comment CPT-resistant leukemia VAR_010667 commonName VAR_010667 VAR_010668 commonName VAR_010668 VAR_010668 disease not phenotype-associated VAR_010669 commonName VAR_010669 VAR_010669 disease not phenotype-associated VAR_010670 commonName VAR_010670 VAR_010670 disease not phenotype-associated VAR_010671 commonName VAR_010671 VAR_010671 disease phenotype-associated VAR_010671 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_010672 commonName VAR_010672 VAR_010672 disease phenotype-associated VAR_010672 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_010677 commonName VAR_010677 VAR_010677 disease phenotype-associated VAR_010677 phenoCommon Cystinosis nephropathic type (CTNS) [MIM:219800] VAR_010678 commonName VAR_010678 VAR_010678 disease phenotype-associated VAR_010678 phenoCommon Cystinosis nephropathic type (CTNS) [MIM:219800] VAR_010680 commonName VAR_010680 VAR_010680 disease phenotype-associated VAR_010680 phenoCommon Cystinosis nephropathic type (CTNS) [MIM:219800] VAR_010681 commonName VAR_010681 VAR_010681 disease phenotype-associated VAR_010681 phenoCommon Cystinosis nephropathic type (CTNS) [MIM:219800] VAR_010682 commonName VAR_010682 VAR_010682 disease phenotype-associated VAR_010682 phenoCommon Cystinosis adult non-nephropathic type (CTNSANN) [MIM:219750] VAR_010683 commonName VAR_010683 VAR_010683 disease phenotype-associated VAR_010683 phenoCommon Cystinosis nephropathic type (CTNS) [MIM:219800] VAR_010699 commonName VAR_010699 VAR_010699 disease not phenotype-associated VAR_010700 commonName VAR_010700 VAR_010700 disease not phenotype-associated VAR_010701 commonName VAR_010701 VAR_010701 disease not phenotype-associated VAR_010702 commonName VAR_010702 VAR_010702 disease phenotype-associated VAR_010702 phenoCommon Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200] VAR_010703 commonName VAR_010703 VAR_010703 disease phenotype-associated VAR_010703 phenoCommon Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200] VAR_010704 commonName VAR_010704 VAR_010704 disease phenotype-associated VAR_010704 phenoCommon Obesity (OBESITY) [MIM:601665] VAR_010705 commonName VAR_010705 VAR_010705 disease phenotype-associated VAR_010705 phenoCommon Obesity (OBESITY) [MIM:601665] VAR_010706 commonName VAR_010706 VAR_010706 disease phenotype-associated VAR_010706 phenoCommon Obesity (OBESITY) [MIM:601665] VAR_010707 commonName VAR_010707 VAR_010707 disease not phenotype-associated VAR_010708 commonName VAR_010708 VAR_010708 disease not phenotype-associated VAR_010709 commonName VAR_010709 VAR_010709 disease phenotype-associated VAR_010709 phenoCommon Obesity (OBESITY) [MIM:601665] VAR_010710 commonName VAR_010710 VAR_010710 disease not phenotype-associated VAR_010711 commonName VAR_010711 VAR_010711 disease phenotype-associated VAR_010711 phenoCommon Obesity (OBESITY) [MIM:601665] VAR_010712 commonName VAR_010712 VAR_010712 disease phenotype-associated VAR_010712 phenoCommon Obesity (OBESITY) [MIM:601665] VAR_010713 commonName VAR_010713 VAR_010713 disease phenotype-associated VAR_010713 phenoCommon Pituitary hormone deficiency combined type 3 (CPHD3) [MIM:221750] VAR_010715 commonName VAR_010715 VAR_010715 disease not phenotype-associated VAR_010716 commonName VAR_010716 VAR_010716 disease not phenotype-associated VAR_010717 commonName VAR_010717 VAR_010717 disease phenotype-associated VAR_010717 phenoCommon Autosomal dominant hypophosphataemic rickets (ADHR) [MIM:193100] VAR_010718 commonName VAR_010718 VAR_010718 disease phenotype-associated VAR_010718 phenoCommon Autosomal dominant hypophosphataemic rickets (ADHR) [MIM:193100] VAR_010719 commonName VAR_010719 VAR_010719 disease phenotype-associated VAR_010719 phenoCommon Autosomal dominant hypophosphataemic rickets (ADHR) [MIM:193100] VAR_010720 commonName VAR_010720 VAR_010720 disease not phenotype-associated VAR_010721 commonName VAR_010721 VAR_010721 disease not phenotype-associated VAR_010722 commonName VAR_010722 VAR_010722 disease not phenotype-associated VAR_010723 commonName VAR_010723 VAR_010723 disease not phenotype-associated VAR_010724 commonName VAR_010724 VAR_010724 disease phenotype-associated VAR_010724 phenoCommon Obesity (OBESITY) [MIM:601665] VAR_010725 comment Colon cancer VAR_010725 commonName VAR_010725 VAR_010726 comment Colon cancer VAR_010726 commonName VAR_010726 VAR_010727 commonName VAR_010727 VAR_010728 commonName VAR_010728 VAR_010729 commonName VAR_010729 VAR_010729 disease not phenotype-associated VAR_010730 commonName VAR_010730 VAR_010731 commonName VAR_010731 VAR_010731 disease phenotype-associated VAR_010731 phenoCommon Amyloidosis type 8 (AMYL8) [MIM:105200] VAR_010732 commonName VAR_010732 VAR_010732 disease phenotype-associated VAR_010732 phenoCommon Amyloidosis type 8 (AMYL8) [MIM:105200] VAR_010733 commonName VAR_010733 VAR_010733 disease phenotype-associated VAR_010733 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219] VAR_010734 commonName VAR_010734 VAR_010735 commonName VAR_010735 VAR_010735 disease phenotype-associated VAR_010735 phenoCommon Cataract crystalline aculeiform (CACA) [MIM:115700] VAR_010738 commonName VAR_010738 VAR_010738 disease phenotype-associated VAR_010738 phenoCommon Deafness autosomal recessive type 29 (DFNB29) [MIM:614035] VAR_010739 commonName VAR_010739 VAR_010739 disease phenotype-associated VAR_010739 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050] VAR_010740 commonName VAR_010740 VAR_010740 disease phenotype-associated VAR_010740 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050] VAR_010741 commonName VAR_010741 VAR_010741 disease phenotype-associated VAR_010741 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050] VAR_010742 commonName VAR_010742 VAR_010742 disease phenotype-associated VAR_010742 phenoCommon HyperCKmia (HYPCK) [MIM:123320] VAR_010743 commonName VAR_010743 VAR_010743 disease not phenotype-associated VAR_010744 commonName VAR_010744 VAR_010744 disease phenotype-associated VAR_010744 phenoCommon Familial hemophagocytic lymphohistiocytosis type 2 (FHL2) [MIM:603553] VAR_010745 commonName VAR_010745 VAR_010745 disease phenotype-associated VAR_010745 phenoCommon Familial hemophagocytic lymphohistiocytosis type 2 (FHL2) [MIM:603553] VAR_010746 commonName VAR_010746 VAR_010746 disease phenotype-associated VAR_010746 phenoCommon Familial hemophagocytic lymphohistiocytosis type 2 (FHL2) [MIM:603553] VAR_010747 commonName VAR_010747 VAR_010747 disease phenotype-associated VAR_010747 phenoCommon Familial hemophagocytic lymphohistiocytosis type 2 (FHL2) [MIM:603553] VAR_010748 commonName VAR_010748 VAR_010748 disease phenotype-associated VAR_010748 phenoCommon Familial hemophagocytic lymphohistiocytosis type 2 (FHL2) [MIM:603553] VAR_010749 commonName VAR_010749 VAR_010749 disease phenotype-associated VAR_010749 phenoCommon Familial hemophagocytic lymphohistiocytosis type 2 (FHL2) [MIM:603553] VAR_010750 commonName VAR_010750 VAR_010750 disease phenotype-associated VAR_010750 phenoCommon Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800] VAR_010751 commonName VAR_010751 VAR_010751 disease not phenotype-associated VAR_010752 commonName VAR_010752 VAR_010752 disease phenotype-associated VAR_010752 phenoCommon Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800] VAR_010753 commonName VAR_010753 VAR_010753 disease phenotype-associated VAR_010753 phenoCommon Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800] VAR_010754 commonName VAR_010754 VAR_010754 disease phenotype-associated VAR_010754 phenoCommon Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800] VAR_010756 commonName VAR_010756 VAR_010756 disease phenotype-associated VAR_010756 phenoCommon Dubin-Johnson syndrome (DJS) [MIM:237500] VAR_010757 commonName VAR_010757 VAR_010757 disease phenotype-associated VAR_010757 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850] VAR_010759 commonName VAR_010759 VAR_010759 disease phenotype-associated VAR_010759 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850] VAR_010760 commonName VAR_010760 VAR_010760 disease phenotype-associated VAR_010760 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850] VAR_010761 commonName VAR_010761 VAR_010761 disease phenotype-associated VAR_010761 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850] VAR_010762 commonName VAR_010762 VAR_010762 disease phenotype-associated VAR_010762 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850] VAR_010763 commonName VAR_010763 VAR_010763 disease phenotype-associated VAR_010763 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850] VAR_010764 commonName VAR_010764 VAR_010764 disease phenotype-associated VAR_010764 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850] VAR_010765 commonName VAR_010765 VAR_010765 disease phenotype-associated VAR_010765 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850] VAR_010766 commonName VAR_010766 VAR_010766 disease phenotype-associated VAR_010766 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850] VAR_010767 commonName VAR_010767 VAR_010767 disease phenotype-associated VAR_010767 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850] VAR_010768 commonName VAR_010768 VAR_010768 disease phenotype-associated VAR_010768 phenoCommon Robinow syndrome autosomal recessive (RRS) [MIM:268310] VAR_010769 commonName VAR_010769 VAR_010769 disease phenotype-associated VAR_010769 phenoCommon Robinow syndrome autosomal recessive (RRS) [MIM:268310] VAR_010770 commonName VAR_010770 VAR_010770 disease phenotype-associated VAR_010770 phenoCommon Robinow syndrome autosomal recessive (RRS) [MIM:268310] VAR_010771 commonName VAR_010771 VAR_010771 disease phenotype-associated VAR_010771 phenoCommon Robinow syndrome autosomal recessive (RRS) [MIM:268310] VAR_010772 commonName VAR_010772 VAR_010772 disease phenotype-associated VAR_010772 phenoCommon Familial hemophagocytic lymphohistiocytosis type 2 (FHL2) [MIM:603553] VAR_010773 commonName VAR_010773 VAR_010773 disease not phenotype-associated VAR_010774 commonName VAR_010774 VAR_010774 disease phenotype-associated VAR_010774 phenoCommon Familial hemophagocytic lymphohistiocytosis type 2 (FHL2) [MIM:603553] VAR_010781 commonName VAR_010781 VAR_010781 disease not phenotype-associated VAR_010783 commonName VAR_010783 VAR_010783 disease not phenotype-associated VAR_010784 commonName VAR_010784 VAR_010784 disease not phenotype-associated VAR_010785 commonName VAR_010785 VAR_010785 disease phenotype-associated VAR_010785 phenoCommon Parietal foramina 2 (PFM2) [MIM:609597] VAR_010786 commonName VAR_010786 VAR_010786 disease phenotype-associated VAR_010786 phenoCommon Parietal foramina 1 (PFM1) [MIM:168500] VAR_010787 commonName VAR_010787 VAR_010787 disease not phenotype-associated VAR_010788 commonName VAR_010788 VAR_010788 disease not phenotype-associated VAR_010790 commonName VAR_010790 VAR_010790 disease not phenotype-associated VAR_010791 commonName VAR_010791 VAR_010791 disease phenotype-associated VAR_010791 phenoCommon May-Hegglin anomaly (MHA) [MIM:155100] VAR_010792 commonName VAR_010792 VAR_010792 disease phenotype-associated VAR_010792 phenoCommon Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650] VAR_010792 phenoCommon Epstein syndrome (EPS) [MIM:153650] VAR_010792 phenoCommon Fechtner syndrome (FTNS) [MIM:153640] VAR_010792 phenoCommon May-Hegglin anomaly (MHA) [MIM:155100] VAR_010792 phenoCommon Sebastian syndrome (SBS) [MIM:605249] VAR_010793 commonName VAR_010793 VAR_010793 disease phenotype-associated VAR_010793 phenoCommon Deafness autosomal dominant type 17 (DFNA17) [MIM:603622] VAR_010794 commonName VAR_010794 VAR_010794 disease phenotype-associated VAR_010794 phenoCommon Fechtner syndrome (FTNS) [MIM:153640] VAR_010794 phenoCommon May-Hegglin anomaly (MHA) [MIM:155100] VAR_010795 commonName VAR_010795 VAR_010795 disease phenotype-associated VAR_010795 phenoCommon Fechtner syndrome (FTNS) [MIM:153640] VAR_010795 phenoCommon Sebastian syndrome (SBS) [MIM:605249] VAR_010796 commonName VAR_010796 VAR_010796 disease phenotype-associated VAR_010796 phenoCommon Fechtner syndrome (FTNS) [MIM:153640] VAR_010796 phenoCommon May-Hegglin anomaly (MHA) [MIM:155100] VAR_010797 commonName VAR_010797 VAR_010797 disease phenotype-associated VAR_010797 phenoCommon Epstein syndrome (EPS) [MIM:153650] VAR_010797 phenoCommon Fechtner syndrome (FTNS) [MIM:153640] VAR_010797 phenoCommon May-Hegglin anomaly (MHA) [MIM:155100] VAR_010797 phenoCommon Sebastian syndrome (SBS) [MIM:605249] VAR_010798 commonName VAR_010798 VAR_010798 disease not phenotype-associated VAR_010799 commonName VAR_010799 VAR_010799 disease not phenotype-associated VAR_010800 commonName VAR_010800 VAR_010800 disease not phenotype-associated VAR_010801 commonName VAR_010801 VAR_010801 disease phenotype-associated VAR_010801 phenoCommon Ataxia telangiectasia (AT) [MIM:208900] VAR_010802 commonName VAR_010802 VAR_010802 disease phenotype-associated VAR_010802 phenoCommon Ataxia telangiectasia (AT) [MIM:208900] VAR_010803 commonName VAR_010803 VAR_010803 disease phenotype-associated VAR_010803 phenoCommon Ataxia telangiectasia (AT) [MIM:208900] VAR_010804 commonName VAR_010804 VAR_010804 disease phenotype-associated VAR_010804 phenoCommon B-cell chronic lymphocytic leukemia (BCLL) VAR_010805 commonName VAR_010805 VAR_010805 disease phenotype-associated VAR_010805 phenoCommon B-cell chronic lymphocytic leukemia (BCLL) VAR_010806 commonName VAR_010806 VAR_010806 disease phenotype-associated VAR_010806 phenoCommon B-cell chronic lymphocytic leukemia (BCLL) VAR_010807 commonName VAR_010807 VAR_010807 disease not phenotype-associated VAR_010808 commonName VAR_010808 VAR_010808 disease phenotype-associated VAR_010808 phenoCommon Ataxia telangiectasia (AT) [MIM:208900] VAR_010810 commonName VAR_010810 VAR_010810 disease not phenotype-associated VAR_010812 commonName VAR_010812 VAR_010812 disease phenotype-associated VAR_010812 phenoCommon Ataxia telangiectasia (AT) [MIM:208900] VAR_010813 commonName VAR_010813 VAR_010813 disease phenotype-associated VAR_010813 phenoCommon Ataxia telangiectasia (AT) [MIM:208900] VAR_010814 commonName VAR_010814 VAR_010814 disease not phenotype-associated VAR_010815 commonName VAR_010815 VAR_010815 disease phenotype-associated VAR_010815 phenoCommon Ataxia telangiectasia (AT) [MIM:208900] VAR_010816 commonName VAR_010816 VAR_010816 disease phenotype-associated VAR_010816 phenoCommon Ataxia telangiectasia (AT) [MIM:208900] VAR_010817 comment B-cell non-Hodgkin lymphoma VAR_010817 commonName VAR_010817 VAR_010818 commonName VAR_010818 VAR_010818 disease not phenotype-associated VAR_010819 commonName VAR_010819 VAR_010819 disease phenotype-associated VAR_010819 phenoCommon Ataxia telangiectasia (AT) [MIM:208900] VAR_010820 commonName VAR_010820 VAR_010820 disease phenotype-associated VAR_010820 phenoCommon Ataxia telangiectasia (AT) [MIM:208900] VAR_010821 comment T-prolymphocytic leukemia VAR_010821 commonName VAR_010821 VAR_010822 commonName VAR_010822 VAR_010822 disease not phenotype-associated VAR_010823 commonName VAR_010823 VAR_010823 disease phenotype-associated VAR_010823 phenoCommon Ataxia telangiectasia (AT) [MIM:208900] VAR_010824 commonName VAR_010824 VAR_010824 disease not phenotype-associated VAR_010825 comment B-cell non-Hodgkin lymphoma VAR_010825 commonName VAR_010825 VAR_010826 commonName VAR_010826 VAR_010826 disease phenotype-associated VAR_010826 phenoCommon Ataxia telangiectasia (AT) [MIM:208900] VAR_010827 commonName VAR_010827 VAR_010827 disease phenotype-associated VAR_010827 phenoCommon Ataxia telangiectasia (AT) [MIM:208900] VAR_010828 commonName VAR_010828 VAR_010828 disease not phenotype-associated VAR_010829 comment T-prolymphocytic leukemia VAR_010829 commonName VAR_010829 VAR_010830 commonName VAR_010830 VAR_010830 disease phenotype-associated VAR_010830 phenoCommon Ataxia telangiectasia (AT) [MIM:208900] VAR_010830 phenoCommon B-cell chronic lymphocytic leukemia (BCLL) VAR_010896 commonName VAR_010896 VAR_010896 disease not phenotype-associated VAR_010897 commonName VAR_010897 VAR_010897 disease phenotype-associated VAR_010897 phenoCommon Parietal foramina 2 (PFM2) [MIM:609597] VAR_010898 commonName VAR_010898 VAR_010898 disease not phenotype-associated VAR_010899 commonName VAR_010899 VAR_010899 disease phenotype-associated VAR_010899 phenoCommon Breast cancer (BC) [MIM:114480] VAR_010901 commonName VAR_010901 VAR_010901 disease phenotype-associated VAR_010901 phenoCommon Sorsby fundus dystrophy (SFD) [MIM:136900] VAR_010902 commonName VAR_010902 VAR_010902 disease not phenotype-associated VAR_010903 commonName VAR_010903 VAR_010903 disease phenotype-associated VAR_010903 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_010904 commonName VAR_010904 VAR_010904 disease phenotype-associated VAR_010904 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_010905 commonName VAR_010905 VAR_010905 disease phenotype-associated VAR_010905 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_010906 commonName VAR_010906 VAR_010906 disease phenotype-associated VAR_010906 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_010907 commonName VAR_010907 VAR_010907 disease phenotype-associated VAR_010907 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_010908 commonName VAR_010908 VAR_010908 disease phenotype-associated VAR_010908 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_010909 commonName VAR_010909 VAR_010909 disease phenotype-associated VAR_010909 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_010910 commonName VAR_010910 VAR_010910 disease phenotype-associated VAR_010910 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_010911 commonName VAR_010911 VAR_010911 disease phenotype-associated VAR_010911 phenoCommon Robinow syndrome autosomal recessive (RRS) [MIM:268310] VAR_010912 commonName VAR_010912 VAR_010912 disease not phenotype-associated VAR_010913 commonName VAR_010913 VAR_010913 disease not phenotype-associated VAR_010914 commonName VAR_010914 VAR_010914 disease phenotype-associated VAR_010914 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] VAR_010915 commonName VAR_010915 VAR_010915 disease not phenotype-associated VAR_010916 commonName VAR_010916 VAR_010916 disease not phenotype-associated VAR_010919 commonName VAR_010919 VAR_010919 disease not phenotype-associated VAR_010920 commonName VAR_010920 VAR_010920 disease not phenotype-associated VAR_010921 commonName VAR_010921 VAR_010921 disease not phenotype-associated VAR_010922 commonName VAR_010922 VAR_010922 disease not phenotype-associated VAR_010923 commonName VAR_010923 VAR_010923 disease not phenotype-associated VAR_010924 commonName VAR_010924 VAR_010924 disease not phenotype-associated VAR_010925 commonName VAR_010925 VAR_010925 disease not phenotype-associated VAR_010927 commonName VAR_010927 VAR_010927 disease not phenotype-associated VAR_010928 commonName VAR_010928 VAR_010928 disease not phenotype-associated VAR_010929 commonName VAR_010929 VAR_010929 disease phenotype-associated VAR_010929 phenoCommon Benign familial neonatal seizures type 1 (BFNS1) [MIM:121200] VAR_010930 commonName VAR_010930 VAR_010930 disease phenotype-associated VAR_010930 phenoCommon Benign familial neonatal seizures type 1 (BFNS1) [MIM:121200] VAR_010931 commonName VAR_010931 VAR_010931 disease phenotype-associated VAR_010931 phenoCommon Benign familial neonatal seizures type 1 (BFNS1) [MIM:121200] VAR_010932 commonName VAR_010932 VAR_010932 disease not phenotype-associated VAR_010933 commonName VAR_010933 VAR_010933 disease phenotype-associated VAR_010933 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_010935 commonName VAR_010935 VAR_010935 disease phenotype-associated VAR_010935 phenoCommon Benign familial neonatal seizures type 2 (BFNS2) [MIM:121201] VAR_010936 commonName VAR_010936 VAR_010936 disease phenotype-associated VAR_010936 phenoCommon Deafness autosomal dominant type 2A (DFNA2A) [MIM:600101] VAR_010937 commonName VAR_010937 VAR_010937 disease phenotype-associated VAR_010937 phenoCommon Deafness autosomal dominant type 2A (DFNA2A) [MIM:600101] VAR_010938 commonName VAR_010938 VAR_010938 disease not phenotype-associated VAR_010939 commonName VAR_010939 VAR_010939 disease not phenotype-associated VAR_010940 commonName VAR_010940 VAR_010940 disease not phenotype-associated VAR_010941 commonName VAR_010941 VAR_010941 disease not phenotype-associated VAR_010942 commonName VAR_010942 VAR_010942 disease not phenotype-associated VAR_010943 commonName VAR_010943 VAR_010943 disease not phenotype-associated VAR_010956 commonName VAR_010956 VAR_010956 disease phenotype-associated VAR_010956 phenoCommon Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] VAR_010957 commonName VAR_010957 VAR_010957 disease phenotype-associated VAR_010957 phenoCommon Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] VAR_010958 commonName VAR_010958 VAR_010958 disease not phenotype-associated VAR_010959 commonName VAR_010959 VAR_010959 disease phenotype-associated VAR_010959 phenoCommon Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] VAR_010960 commonName VAR_010960 VAR_010960 disease phenotype-associated VAR_010960 phenoCommon Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] VAR_010961 commonName VAR_010961 VAR_010961 disease phenotype-associated VAR_010961 phenoCommon Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] VAR_010962 commonName VAR_010962 VAR_010962 disease phenotype-associated VAR_010962 phenoCommon Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] VAR_010969 commonName VAR_010969 VAR_010969 disease phenotype-associated VAR_010969 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900] VAR_010971 commonName VAR_010971 VAR_010971 disease phenotype-associated VAR_010971 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900] VAR_010972 commonName VAR_010972 VAR_010972 disease phenotype-associated VAR_010972 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900] VAR_010973 commonName VAR_010973 VAR_010973 disease phenotype-associated VAR_010973 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900] VAR_010974 commonName VAR_010974 VAR_010974 disease phenotype-associated VAR_010974 phenoCommon Basal cell nevus syndrome (BCNS) [MIM:109400] VAR_010975 commonName VAR_010975 VAR_010975 disease phenotype-associated VAR_010975 phenoCommon Basal cell nevus syndrome (BCNS) [MIM:109400] VAR_010976 commonName VAR_010976 VAR_010976 disease phenotype-associated VAR_010976 phenoCommon Basal cell nevus syndrome (BCNS) [MIM:109400] VAR_010978 comment Squamous cell carcinoma VAR_010978 commonName VAR_010978 VAR_010979 commonName VAR_010979 VAR_010979 disease phenotype-associated VAR_010979 phenoCommon Basal cell nevus syndrome (BCNS) [MIM:109400] VAR_010980 commonName VAR_010980 VAR_010980 disease phenotype-associated VAR_010980 phenoCommon Basal cell nevus syndrome (BCNS) [MIM:109400] VAR_010981 commonName VAR_010981 VAR_010981 disease phenotype-associated VAR_010981 phenoCommon Basal cell nevus syndrome (BCNS) [MIM:109400] VAR_010982 comment Squamous cell carcinoma VAR_010982 commonName VAR_010982 VAR_010985 commonName VAR_010985 VAR_010985 disease phenotype-associated VAR_010985 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100] VAR_010986 commonName VAR_010986 VAR_010986 disease phenotype-associated VAR_010986 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100] VAR_010987 commonName VAR_010987 VAR_010987 disease phenotype-associated VAR_010987 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100] VAR_010988 commonName VAR_010988 VAR_010988 disease phenotype-associated VAR_010988 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100] VAR_010989 commonName VAR_010989 VAR_010989 disease phenotype-associated VAR_010989 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_010990 commonName VAR_010990 VAR_010990 disease phenotype-associated VAR_010990 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_010991 commonName VAR_010991 VAR_010991 disease phenotype-associated VAR_010991 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_010992 commonName VAR_010992 VAR_010992 disease phenotype-associated VAR_010992 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_010993 commonName VAR_010993 VAR_010993 disease phenotype-associated VAR_010993 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_010994 commonName VAR_010994 VAR_010994 disease phenotype-associated VAR_010994 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_010995 commonName VAR_010995 VAR_010995 disease phenotype-associated VAR_010995 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_010996 commonName VAR_010996 VAR_010996 disease phenotype-associated VAR_010996 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_010997 commonName VAR_010997 VAR_010997 disease phenotype-associated VAR_010997 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_010998 commonName VAR_010998 VAR_010998 disease phenotype-associated VAR_010998 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_010999 commonName VAR_010999 VAR_010999 disease phenotype-associated VAR_010999 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700] VAR_011000 commonName VAR_011000 VAR_011000 disease phenotype-associated VAR_011000 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700] VAR_011001 commonName VAR_011001 VAR_011001 disease phenotype-associated VAR_011001 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_011002 commonName VAR_011002 VAR_011002 disease phenotype-associated VAR_011002 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_011003 commonName VAR_011003 VAR_011003 disease phenotype-associated VAR_011003 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_011004 commonName VAR_011004 VAR_011004 disease phenotype-associated VAR_011004 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_011005 commonName VAR_011005 VAR_011005 disease phenotype-associated VAR_011005 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_011006 commonName VAR_011006 VAR_011006 disease phenotype-associated VAR_011006 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_011007 commonName VAR_011007 VAR_011007 disease phenotype-associated VAR_011007 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_011008 commonName VAR_011008 VAR_011008 disease phenotype-associated VAR_011008 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_011009 commonName VAR_011009 VAR_011009 disease phenotype-associated VAR_011009 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_011010 commonName VAR_011010 VAR_011010 disease phenotype-associated VAR_011010 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_011011 commonName VAR_011011 VAR_011011 disease phenotype-associated VAR_011011 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_011012 commonName VAR_011012 VAR_011012 disease phenotype-associated VAR_011012 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_011013 commonName VAR_011013 VAR_011013 disease phenotype-associated VAR_011013 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_011014 commonName VAR_011014 VAR_011014 disease phenotype-associated VAR_011014 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_011015 commonName VAR_011015 VAR_011015 disease phenotype-associated VAR_011015 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_011016 commonName VAR_011016 VAR_011016 disease phenotype-associated VAR_011016 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_011017 commonName VAR_011017 VAR_011017 disease phenotype-associated VAR_011017 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_011018 commonName VAR_011018 VAR_011018 disease phenotype-associated VAR_011018 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_011020 commonName VAR_011020 VAR_011020 disease phenotype-associated VAR_011020 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_011021 commonName VAR_011021 VAR_011021 disease phenotype-associated VAR_011021 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_011022 commonName VAR_011022 VAR_011022 disease phenotype-associated VAR_011022 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_011023 commonName VAR_011023 VAR_011023 disease phenotype-associated VAR_011023 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_011024 commonName VAR_011024 VAR_011024 disease phenotype-associated VAR_011024 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_011025 commonName VAR_011025 VAR_011025 disease phenotype-associated VAR_011025 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_011030 commonName VAR_011030 VAR_011030 disease phenotype-associated VAR_011030 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_011031 commonName VAR_011031 VAR_011031 disease phenotype-associated VAR_011031 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_011032 commonName VAR_011032 VAR_011032 disease phenotype-associated VAR_011032 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_011033 commonName VAR_011033 VAR_011033 disease phenotype-associated VAR_011033 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_011034 commonName VAR_011034 VAR_011034 disease phenotype-associated VAR_011034 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_011036 commonName VAR_011036 VAR_011036 disease not phenotype-associated VAR_011038 commonName VAR_011038 VAR_011039 commonName VAR_011039 VAR_011040 commonName VAR_011040 VAR_011040 disease phenotype-associated VAR_011040 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_011041 commonName VAR_011041 VAR_011041 disease phenotype-associated VAR_011041 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_011042 commonName VAR_011042 VAR_011042 disease phenotype-associated VAR_011042 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_011044 commonName VAR_011044 VAR_011044 disease not phenotype-associated VAR_011045 commonName VAR_011045 VAR_011045 disease not phenotype-associated VAR_011046 commonName VAR_011046 VAR_011046 disease not phenotype-associated VAR_011047 commonName VAR_011047 VAR_011047 disease not phenotype-associated VAR_011048 commonName VAR_011048 VAR_011048 disease not phenotype-associated VAR_011049 commonName VAR_011049 VAR_011049 disease phenotype-associated VAR_011049 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_011051 commonName VAR_011051 VAR_011051 disease not phenotype-associated VAR_011052 commonName VAR_011052 VAR_011052 disease phenotype-associated VAR_011052 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_011053 commonName VAR_011053 VAR_011053 disease phenotype-associated VAR_011053 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_011054 commonName VAR_011054 VAR_011054 disease not phenotype-associated VAR_011055 commonName VAR_011055 VAR_011055 disease phenotype-associated VAR_011055 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_011056 commonName VAR_011056 VAR_011056 disease phenotype-associated VAR_011056 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_011057 commonName VAR_011057 VAR_011057 disease phenotype-associated VAR_011057 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_011058 commonName VAR_011058 VAR_011058 disease not phenotype-associated VAR_011059 commonName VAR_011059 VAR_011059 disease not phenotype-associated VAR_011060 commonName VAR_011060 VAR_011060 disease phenotype-associated VAR_011060 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_011061 commonName VAR_011061 VAR_011061 disease not phenotype-associated VAR_011063 commonName VAR_011063 VAR_011063 disease phenotype-associated VAR_011063 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_011064 commonName VAR_011064 VAR_011064 disease not phenotype-associated VAR_011065 commonName VAR_011065 VAR_011065 disease not phenotype-associated VAR_011066 commonName VAR_011066 VAR_011066 disease not phenotype-associated VAR_011067 commonName VAR_011067 VAR_011067 disease phenotype-associated VAR_011067 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_011068 commonName VAR_011068 VAR_011068 disease phenotype-associated VAR_011068 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_011069 commonName VAR_011069 VAR_011069 disease phenotype-associated VAR_011069 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_011070 commonName VAR_011070 VAR_011070 disease phenotype-associated VAR_011070 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_011072 commonName VAR_011072 VAR_011072 disease not phenotype-associated VAR_011073 commonName VAR_011073 VAR_011073 disease phenotype-associated VAR_011073 phenoCommon Polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:613095] VAR_011077 commonName VAR_011077 VAR_011077 disease phenotype-associated VAR_011077 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_011078 commonName VAR_011078 VAR_011078 disease phenotype-associated VAR_011078 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_011079 commonName VAR_011079 VAR_011079 disease phenotype-associated VAR_011079 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_011080 commonName VAR_011080 VAR_011080 disease phenotype-associated VAR_011080 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_011081 commonName VAR_011081 VAR_011081 disease phenotype-associated VAR_011081 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_011082 commonName VAR_011082 VAR_011082 disease phenotype-associated VAR_011082 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_011083 commonName VAR_011083 VAR_011083 disease phenotype-associated VAR_011083 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_011084 commonName VAR_011084 VAR_011084 disease phenotype-associated VAR_011084 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_011085 commonName VAR_011085 VAR_011085 disease phenotype-associated VAR_011085 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_011086 commonName VAR_011086 VAR_011086 disease phenotype-associated VAR_011086 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_011087 commonName VAR_011087 VAR_011087 disease phenotype-associated VAR_011087 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_011088 commonName VAR_011088 VAR_011088 disease phenotype-associated VAR_011088 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_011089 commonName VAR_011089 VAR_011089 disease phenotype-associated VAR_011089 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_011090 commonName VAR_011090 VAR_011090 disease phenotype-associated VAR_011090 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_011091 commonName VAR_011091 VAR_011091 disease phenotype-associated VAR_011091 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_011092 commonName VAR_011092 VAR_011092 disease phenotype-associated VAR_011092 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_011093 commonName VAR_011093 VAR_011093 disease phenotype-associated VAR_011093 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_011094 commonName VAR_011094 VAR_011094 disease not phenotype-associated VAR_011095 commonName VAR_011095 VAR_011095 disease phenotype-associated VAR_011095 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011096 commonName VAR_011096 VAR_011096 disease phenotype-associated VAR_011096 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011097 commonName VAR_011097 VAR_011097 disease phenotype-associated VAR_011097 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011098 commonName VAR_011098 VAR_011098 disease phenotype-associated VAR_011098 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011099 commonName VAR_011099 VAR_011099 disease phenotype-associated VAR_011099 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011100 commonName VAR_011100 VAR_011100 disease phenotype-associated VAR_011100 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011101 commonName VAR_011101 VAR_011101 disease phenotype-associated VAR_011101 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011102 commonName VAR_011102 VAR_011102 disease phenotype-associated VAR_011102 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011103 commonName VAR_011103 VAR_011103 disease phenotype-associated VAR_011103 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011104 commonName VAR_011104 VAR_011104 disease phenotype-associated VAR_011104 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011105 commonName VAR_011105 VAR_011105 disease phenotype-associated VAR_011105 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011106 commonName VAR_011106 VAR_011106 disease phenotype-associated VAR_011106 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011107 commonName VAR_011107 VAR_011107 disease phenotype-associated VAR_011107 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011108 commonName VAR_011108 VAR_011108 disease phenotype-associated VAR_011108 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011109 commonName VAR_011109 VAR_011109 disease phenotype-associated VAR_011109 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011110 commonName VAR_011110 VAR_011110 disease phenotype-associated VAR_011110 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011111 commonName VAR_011111 VAR_011111 disease phenotype-associated VAR_011111 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011112 commonName VAR_011112 VAR_011112 disease phenotype-associated VAR_011112 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011113 commonName VAR_011113 VAR_011113 disease phenotype-associated VAR_011113 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011114 commonName VAR_011114 VAR_011114 disease phenotype-associated VAR_011114 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011115 commonName VAR_011115 VAR_011115 disease phenotype-associated VAR_011115 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011116 commonName VAR_011116 VAR_011116 disease phenotype-associated VAR_011116 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011117 commonName VAR_011117 VAR_011117 disease phenotype-associated VAR_011117 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011118 commonName VAR_011118 VAR_011118 disease phenotype-associated VAR_011118 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011119 commonName VAR_011119 VAR_011119 disease phenotype-associated VAR_011119 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011120 commonName VAR_011120 VAR_011120 disease phenotype-associated VAR_011120 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011121 commonName VAR_011121 VAR_011121 disease phenotype-associated VAR_011121 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011122 commonName VAR_011122 VAR_011122 disease phenotype-associated VAR_011122 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011123 commonName VAR_011123 VAR_011123 disease phenotype-associated VAR_011123 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011124 commonName VAR_011124 VAR_011124 disease phenotype-associated VAR_011124 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011125 commonName VAR_011125 VAR_011125 disease phenotype-associated VAR_011125 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011126 commonName VAR_011126 VAR_011126 disease phenotype-associated VAR_011126 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011127 commonName VAR_011127 VAR_011127 disease not phenotype-associated VAR_011128 commonName VAR_011128 VAR_011128 disease phenotype-associated VAR_011128 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011129 commonName VAR_011129 VAR_011129 disease phenotype-associated VAR_011129 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011130 commonName VAR_011130 VAR_011130 disease phenotype-associated VAR_011130 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011131 commonName VAR_011131 VAR_011131 disease phenotype-associated VAR_011131 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011132 commonName VAR_011132 VAR_011132 disease phenotype-associated VAR_011132 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011133 commonName VAR_011133 VAR_011133 disease phenotype-associated VAR_011133 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011134 commonName VAR_011134 VAR_011134 disease phenotype-associated VAR_011134 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011135 commonName VAR_011135 VAR_011135 disease phenotype-associated VAR_011135 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011136 commonName VAR_011136 VAR_011136 disease phenotype-associated VAR_011136 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011137 commonName VAR_011137 VAR_011137 disease phenotype-associated VAR_011137 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011138 commonName VAR_011138 VAR_011138 disease phenotype-associated VAR_011138 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011139 commonName VAR_011139 VAR_011139 disease phenotype-associated VAR_011139 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011140 commonName VAR_011140 VAR_011140 disease phenotype-associated VAR_011140 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011141 commonName VAR_011141 VAR_011141 disease phenotype-associated VAR_011141 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011142 commonName VAR_011142 VAR_011142 disease phenotype-associated VAR_011142 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011143 commonName VAR_011143 VAR_011143 disease phenotype-associated VAR_011143 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011144 commonName VAR_011144 VAR_011144 disease phenotype-associated VAR_011144 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011145 commonName VAR_011145 VAR_011145 disease phenotype-associated VAR_011145 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011146 commonName VAR_011146 VAR_011146 disease phenotype-associated VAR_011146 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011147 commonName VAR_011147 VAR_011147 disease phenotype-associated VAR_011147 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011148 commonName VAR_011148 VAR_011148 disease phenotype-associated VAR_011148 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011149 commonName VAR_011149 VAR_011149 disease phenotype-associated VAR_011149 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011150 commonName VAR_011150 VAR_011150 disease phenotype-associated VAR_011150 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011151 commonName VAR_011151 VAR_011151 disease phenotype-associated VAR_011151 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011152 commonName VAR_011152 VAR_011152 disease phenotype-associated VAR_011152 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011153 commonName VAR_011153 VAR_011153 disease phenotype-associated VAR_011153 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011154 commonName VAR_011154 VAR_011154 disease phenotype-associated VAR_011154 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011155 commonName VAR_011155 VAR_011155 disease phenotype-associated VAR_011155 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011156 commonName VAR_011156 VAR_011156 disease phenotype-associated VAR_011156 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011157 commonName VAR_011157 VAR_011157 disease phenotype-associated VAR_011157 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011158 commonName VAR_011158 VAR_011158 disease phenotype-associated VAR_011158 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011159 commonName VAR_011159 VAR_011159 disease phenotype-associated VAR_011159 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_011160 commonName VAR_011160 VAR_011160 disease phenotype-associated VAR_011160 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] VAR_011161 commonName VAR_011161 VAR_011161 disease phenotype-associated VAR_011161 phenoCommon Transient bullous dermolysis of the newborn (TBDN) [MIM:131705] VAR_011162 commonName VAR_011162 VAR_011162 disease phenotype-associated VAR_011162 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] VAR_011163 commonName VAR_011163 VAR_011163 disease phenotype-associated VAR_011163 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] VAR_011164 commonName VAR_011164 VAR_011164 disease phenotype-associated VAR_011164 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] VAR_011165 commonName VAR_011165 VAR_011165 disease phenotype-associated VAR_011165 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] VAR_011166 commonName VAR_011166 VAR_011166 disease phenotype-associated VAR_011166 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] VAR_011167 commonName VAR_011167 VAR_011167 disease phenotype-associated VAR_011167 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] VAR_011168 commonName VAR_011168 VAR_011168 disease phenotype-associated VAR_011168 phenoCommon Epidermolysis bullosa pruriginosa (EBP) [MIM:604129] VAR_011169 commonName VAR_011169 VAR_011169 disease phenotype-associated VAR_011169 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] VAR_011170 commonName VAR_011170 VAR_011170 disease phenotype-associated VAR_011170 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] VAR_011171 commonName VAR_011171 VAR_011171 disease phenotype-associated VAR_011171 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] VAR_011172 commonName VAR_011172 VAR_011172 disease phenotype-associated VAR_011172 phenoCommon Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600] VAR_011173 commonName VAR_011173 VAR_011173 disease phenotype-associated VAR_011173 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] VAR_011174 commonName VAR_011174 VAR_011174 disease phenotype-associated VAR_011174 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] VAR_011175 commonName VAR_011175 VAR_011175 disease phenotype-associated VAR_011175 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] VAR_011176 commonName VAR_011176 VAR_011176 disease phenotype-associated VAR_011176 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] VAR_011176 phenoCommon Epidermolysis bullosa pruriginosa (EBP) [MIM:604129] VAR_011177 commonName VAR_011177 VAR_011177 disease phenotype-associated VAR_011177 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] VAR_011178 commonName VAR_011178 VAR_011178 disease phenotype-associated VAR_011178 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] VAR_011179 commonName VAR_011179 VAR_011179 disease phenotype-associated VAR_011179 phenoCommon Epidermolysis bullosa dystrophica Pasini type (P-DEB) [MIM:131750] VAR_011180 commonName VAR_011180 VAR_011180 disease phenotype-associated VAR_011180 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] VAR_011181 commonName VAR_011181 VAR_011181 disease phenotype-associated VAR_011181 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] VAR_011182 commonName VAR_011182 VAR_011182 disease phenotype-associated VAR_011182 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] VAR_011183 commonName VAR_011183 VAR_011183 disease phenotype-associated VAR_011183 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] VAR_011184 commonName VAR_011184 VAR_011184 disease phenotype-associated VAR_011184 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] VAR_011185 commonName VAR_011185 VAR_011185 disease phenotype-associated VAR_011185 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] VAR_011186 commonName VAR_011186 VAR_011186 disease phenotype-associated VAR_011186 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] VAR_011187 commonName VAR_011187 VAR_011187 disease phenotype-associated VAR_011187 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] VAR_011188 commonName VAR_011188 VAR_011188 disease phenotype-associated VAR_011188 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] VAR_011189 commonName VAR_011189 VAR_011189 disease phenotype-associated VAR_011189 phenoCommon Transient bullous dermolysis of the newborn (TBDN) [MIM:131705] VAR_011190 commonName VAR_011190 VAR_011190 disease phenotype-associated VAR_011190 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] VAR_011191 commonName VAR_011191 VAR_011191 disease not phenotype-associated VAR_011192 commonName VAR_011192 VAR_011193 commonName VAR_011193 VAR_011194 commonName VAR_011194 VAR_011194 disease phenotype-associated VAR_011194 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] VAR_011195 commonName VAR_011195 VAR_011195 disease phenotype-associated VAR_011195 phenoCommon Epidermolysis bullosa pruriginosa (EBP) [MIM:604129] VAR_011196 commonName VAR_011196 VAR_011196 disease phenotype-associated VAR_011196 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] VAR_011197 commonName VAR_011197 VAR_011197 disease phenotype-associated VAR_011197 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] VAR_011198 commonName VAR_011198 VAR_011198 disease phenotype-associated VAR_011198 phenoCommon Epidermolysis bullosa pruriginosa (EBP) [MIM:604129] VAR_011199 commonName VAR_011199 VAR_011199 disease phenotype-associated VAR_011199 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] VAR_011200 commonName VAR_011200 VAR_011200 disease phenotype-associated VAR_011200 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] VAR_011201 commonName VAR_011201 VAR_011201 disease phenotype-associated VAR_011201 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] VAR_011202 commonName VAR_011202 VAR_011202 disease not phenotype-associated VAR_011203 commonName VAR_011203 VAR_011203 disease not phenotype-associated VAR_011204 commonName VAR_011204 VAR_011204 disease phenotype-associated VAR_011204 phenoCommon Alport syndrome autosomal recessive (APSAR) [MIM:203780] VAR_011205 commonName VAR_011205 VAR_011205 disease not phenotype-associated VAR_011206 commonName VAR_011206 VAR_011206 disease phenotype-associated VAR_011206 phenoCommon Alport syndrome autosomal recessive (APSAR) [MIM:203780] VAR_011207 commonName VAR_011207 VAR_011207 disease not phenotype-associated VAR_011208 commonName VAR_011208 VAR_011208 disease not phenotype-associated VAR_011209 commonName VAR_011209 VAR_011209 disease not phenotype-associated VAR_011210 commonName VAR_011210 VAR_011210 disease phenotype-associated VAR_011210 phenoCommon Alport syndrome autosomal recessive (APSAR) [MIM:203780] VAR_011211 commonName VAR_011211 VAR_011211 disease phenotype-associated VAR_011211 phenoCommon Alport syndrome autosomal dominant (APSAD) [MIM:104200] VAR_011212 commonName VAR_011212 VAR_011212 disease phenotype-associated VAR_011212 phenoCommon Alport syndrome autosomal recessive (APSAR) [MIM:203780] VAR_011213 commonName VAR_011213 VAR_011214 commonName VAR_011214 VAR_011214 disease not phenotype-associated VAR_011215 commonName VAR_011215 VAR_011215 disease phenotype-associated VAR_011215 phenoCommon Alport syndrome autosomal recessive (APSAR) [MIM:203780] VAR_011216 commonName VAR_011216 VAR_011217 commonName VAR_011217 VAR_011217 disease phenotype-associated VAR_011217 phenoCommon Alport syndrome autosomal recessive (APSAR) [MIM:203780] VAR_011218 commonName VAR_011218 VAR_011219 commonName VAR_011219 VAR_011219 disease phenotype-associated VAR_011219 phenoCommon Alport syndrome autosomal recessive (APSAR) [MIM:203780] VAR_011292 commonName VAR_011292 VAR_011292 disease not phenotype-associated VAR_011293 commonName VAR_011293 VAR_011293 disease phenotype-associated VAR_011293 phenoCommon Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730] VAR_011294 commonName VAR_011294 VAR_011294 disease phenotype-associated VAR_011294 phenoCommon Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730] VAR_011295 commonName VAR_011295 VAR_011295 disease phenotype-associated VAR_011295 phenoCommon Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730] VAR_011296 commonName VAR_011296 VAR_011296 disease phenotype-associated VAR_011296 phenoCommon Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730] VAR_011297 commonName VAR_011297 VAR_011297 disease phenotype-associated VAR_011297 phenoCommon Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730] VAR_011298 commonName VAR_011298 VAR_011298 disease not phenotype-associated VAR_011299 commonName VAR_011299 VAR_011299 disease phenotype-associated VAR_011299 phenoCommon Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650] VAR_011300 commonName VAR_011300 VAR_011300 disease not phenotype-associated VAR_011301 commonName VAR_011301 VAR_011301 disease phenotype-associated VAR_011301 phenoCommon Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730] VAR_011302 commonName VAR_011302 VAR_011302 disease not phenotype-associated VAR_011303 commonName VAR_011303 VAR_011303 disease not phenotype-associated VAR_011304 commonName VAR_011304 VAR_011304 disease not phenotype-associated VAR_011305 commonName VAR_011305 VAR_011305 disease phenotype-associated VAR_011305 phenoCommon Wolfram syndrome type 1 (WFS1) [MIM:222300] VAR_011306 commonName VAR_011306 VAR_011306 disease phenotype-associated VAR_011306 phenoCommon Wolfram syndrome type 1 (WFS1) [MIM:222300] VAR_011308 commonName VAR_011308 VAR_011308 disease phenotype-associated VAR_011308 phenoCommon Wolfram syndrome type 1 (WFS1) [MIM:222300] VAR_011309 commonName VAR_011309 VAR_011309 disease not phenotype-associated VAR_011310 commonName VAR_011310 VAR_011310 disease phenotype-associated VAR_011310 phenoCommon Wolfram-like syndrome autosomal dominant (WFSL) [MIM:614296] VAR_011311 commonName VAR_011311 VAR_011311 disease not phenotype-associated VAR_011315 commonName VAR_011315 VAR_011315 disease not phenotype-associated VAR_011316 commonName VAR_011316 VAR_011316 disease not phenotype-associated VAR_011317 commonName VAR_011317 VAR_011317 disease not phenotype-associated VAR_011318 commonName VAR_011318 VAR_011318 disease phenotype-associated VAR_011318 phenoCommon Char syndrome (CHAR) [MIM:169100] VAR_011319 commonName VAR_011319 VAR_011319 disease phenotype-associated VAR_011319 phenoCommon Char syndrome (CHAR) [MIM:169100] VAR_011320 commonName VAR_011320 VAR_011320 disease phenotype-associated VAR_011320 phenoCommon Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID) [MIM:300291] VAR_011321 commonName VAR_011321 VAR_011321 disease phenotype-associated VAR_011321 phenoCommon Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID) [MIM:300291] VAR_011322 commonName VAR_011322 VAR_011322 disease phenotype-associated VAR_011322 phenoCommon Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID) [MIM:300291] VAR_011323 commonName VAR_011323 VAR_011323 disease phenotype-associated VAR_011323 phenoCommon Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID) [MIM:300291] VAR_011324 commonName VAR_011324 VAR_011324 disease phenotype-associated VAR_011324 phenoCommon Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID) [MIM:300291] VAR_011325 commonName VAR_011325 VAR_011325 disease phenotype-associated VAR_011325 phenoCommon Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID) [MIM:300291] VAR_011326 commonName VAR_011326 VAR_011326 disease phenotype-associated VAR_011326 phenoCommon Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID) [MIM:300291] VAR_011327 commonName VAR_011327 VAR_011327 disease phenotype-associated VAR_011327 phenoCommon Hereditary sensory and autonomic neuropathy type 3 (HSAN3) [MIM:223900] VAR_011328 commonName VAR_011328 VAR_011328 disease not phenotype-associated VAR_011331 commonName VAR_011331 VAR_011331 disease phenotype-associated VAR_011331 phenoCommon Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790] VAR_011332 commonName VAR_011332 VAR_011332 disease phenotype-associated VAR_011332 phenoCommon Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790] VAR_011333 commonName VAR_011333 VAR_011333 disease phenotype-associated VAR_011333 phenoCommon Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790] VAR_011334 commonName VAR_011334 VAR_011334 disease phenotype-associated VAR_011334 phenoCommon Griscelli syndrome type 2 (GS2) [MIM:607624] VAR_011335 commonName VAR_011335 VAR_011335 disease phenotype-associated VAR_011335 phenoCommon Griscelli syndrome type 2 (GS2) [MIM:607624] VAR_011360 commonName VAR_011360 VAR_011360 disease not phenotype-associated VAR_011361 commonName VAR_011361 VAR_011361 disease phenotype-associated VAR_011361 phenoCommon Symphalangism proximal syndrome (SYM1) [MIM:185800] VAR_011361 phenoCommon Tarsal-carpal coalition syndrome (TCC) [MIM:186570] VAR_011362 commonName VAR_011362 VAR_011362 disease phenotype-associated VAR_011362 phenoCommon Symphalangism proximal syndrome (SYM1) [MIM:185800] VAR_011363 commonName VAR_011363 VAR_011363 disease phenotype-associated VAR_011363 phenoCommon Multiple synostoses syndrome type 1 (SYNS1) [MIM:186500] VAR_011364 commonName VAR_011364 VAR_011364 disease phenotype-associated VAR_011364 phenoCommon Symphalangism proximal syndrome (SYM1) [MIM:185800] VAR_011365 commonName VAR_011365 VAR_011365 disease phenotype-associated VAR_011365 phenoCommon Symphalangism proximal syndrome (SYM1) [MIM:185800] VAR_011365 phenoCommon Tarsal-carpal coalition syndrome (TCC) [MIM:186570] VAR_011366 commonName VAR_011366 VAR_011366 disease phenotype-associated VAR_011366 phenoCommon Symphalangism proximal syndrome (SYM1) [MIM:185800] VAR_011367 commonName VAR_011367 VAR_011367 disease phenotype-associated VAR_011367 phenoCommon Symphalangism proximal syndrome (SYM1) [MIM:185800] VAR_011368 commonName VAR_011368 VAR_011368 disease phenotype-associated VAR_011368 phenoCommon Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926] VAR_011369 commonName VAR_011369 VAR_011369 disease not phenotype-associated VAR_011374 commonName VAR_011374 VAR_011374 disease not phenotype-associated VAR_011375 comment A colorectal carcinoma sample VAR_011375 commonName VAR_011375 VAR_011377 comment A colorectal carcinoma sample VAR_011377 commonName VAR_011377 VAR_011378 comment A colorectal carcinoma sample VAR_011378 commonName VAR_011378 VAR_011379 comment A colorectal carcinoma sample VAR_011379 commonName VAR_011379 VAR_011381 comment Colorectal cancer VAR_011381 commonName VAR_011381 VAR_011382 comment Colorectal cancer VAR_011382 commonName VAR_011382 VAR_011383 commonName VAR_011383 VAR_011383 disease not phenotype-associated VAR_011384 commonName VAR_011384 VAR_011384 disease not phenotype-associated VAR_011385 commonName VAR_011385 VAR_011385 disease not phenotype-associated VAR_011386 commonName VAR_011386 VAR_011386 disease not phenotype-associated VAR_011389 commonName VAR_011389 VAR_011389 disease phenotype-associated VAR_011389 phenoCommon Infantile Refsum disease (IRD) [MIM:266510] VAR_011390 commonName VAR_011390 VAR_011390 disease not phenotype-associated VAR_011392 commonName VAR_011392 VAR_011392 disease phenotype-associated VAR_011392 phenoCommon Hereditary sensory and autonomic neuropathy type 1A (HSAN1A) [MIM:162400] VAR_011393 commonName VAR_011393 VAR_011393 disease phenotype-associated VAR_011393 phenoCommon Hereditary sensory and autonomic neuropathy type 1A (HSAN1A) [MIM:162400] VAR_011394 commonName VAR_011394 VAR_011394 disease phenotype-associated VAR_011394 phenoCommon Hereditary sensory and autonomic neuropathy type 1A (HSAN1A) [MIM:162400] VAR_011395 commonName VAR_011395 VAR_011395 disease phenotype-associated VAR_011395 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_011395 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 2 (ARVD2) [MIM:600996] VAR_011396 commonName VAR_011396 VAR_011396 disease phenotype-associated VAR_011396 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_011397 commonName VAR_011397 VAR_011397 disease phenotype-associated VAR_011397 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_011398 commonName VAR_011398 VAR_011398 disease phenotype-associated VAR_011398 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_011398 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 2 (ARVD2) [MIM:600996] VAR_011399 commonName VAR_011399 VAR_011399 disease phenotype-associated VAR_011399 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_011400 commonName VAR_011400 VAR_011400 disease phenotype-associated VAR_011400 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_011401 commonName VAR_011401 VAR_011401 disease phenotype-associated VAR_011401 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_011402 commonName VAR_011402 VAR_011402 disease phenotype-associated VAR_011402 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_011403 commonName VAR_011403 VAR_011403 disease phenotype-associated VAR_011403 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_011404 commonName VAR_011404 VAR_011404 disease not phenotype-associated VAR_011405 commonName VAR_011405 VAR_011405 disease not phenotype-associated VAR_011406 commonName VAR_011406 VAR_011406 disease not phenotype-associated VAR_011408 commonName VAR_011408 VAR_011408 disease phenotype-associated VAR_011408 phenoCommon Wolcott-Rallison syndrome (WRS) [MIM:226980] VAR_011409 commonName VAR_011409 VAR_011409 disease not phenotype-associated VAR_011410 commonName VAR_011410 VAR_011410 disease not phenotype-associated VAR_011411 commonName VAR_011411 VAR_011411 disease not phenotype-associated VAR_011412 commonName VAR_011412 VAR_011412 disease not phenotype-associated VAR_011413 commonName VAR_011413 VAR_011413 disease not phenotype-associated VAR_011414 commonName VAR_011414 VAR_011414 disease not phenotype-associated VAR_011415 commonName VAR_011415 VAR_011415 disease not phenotype-associated VAR_011417 commonName VAR_011417 VAR_011417 disease not phenotype-associated VAR_011418 commonName VAR_011418 VAR_011418 disease not phenotype-associated VAR_011420 commonName VAR_011420 VAR_011420 disease phenotype-associated VAR_011420 phenoCommon Cystinuria type 1 (CSNU1) [MIM:220100] VAR_011421 commonName VAR_011421 VAR_011421 disease phenotype-associated VAR_011421 phenoCommon Cystinuria type 1 (CSNU1) [MIM:220100] VAR_011422 commonName VAR_011422 VAR_011422 disease phenotype-associated VAR_011422 phenoCommon Cystinuria type 1 (CSNU1) [MIM:220100] VAR_011423 commonName VAR_011423 VAR_011423 disease phenotype-associated VAR_011423 phenoCommon Cystinuria type 1 (CSNU1) [MIM:220100] VAR_011424 commonName VAR_011424 VAR_011424 disease phenotype-associated VAR_011424 phenoCommon Cystinuria type 1 (CSNU1) [MIM:220100] VAR_011435 commonName VAR_011435 VAR_011435 disease phenotype-associated VAR_011435 phenoCommon Pyruvate kinase hyperactivity (PKHYP) [MIM:102900] VAR_011436 commonName VAR_011436 VAR_011436 disease phenotype-associated VAR_011436 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011437 commonName VAR_011437 VAR_011437 disease phenotype-associated VAR_011437 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011438 commonName VAR_011438 VAR_011438 disease phenotype-associated VAR_011438 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011439 commonName VAR_011439 VAR_011439 disease phenotype-associated VAR_011439 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011440 commonName VAR_011440 VAR_011440 disease phenotype-associated VAR_011440 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011441 commonName VAR_011441 VAR_011441 disease phenotype-associated VAR_011441 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011442 commonName VAR_011442 VAR_011442 disease phenotype-associated VAR_011442 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011443 commonName VAR_011443 VAR_011443 disease phenotype-associated VAR_011443 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011444 commonName VAR_011444 VAR_011444 disease phenotype-associated VAR_011444 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011445 commonName VAR_011445 VAR_011445 disease phenotype-associated VAR_011445 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011446 commonName VAR_011446 VAR_011446 disease phenotype-associated VAR_011446 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011447 commonName VAR_011447 VAR_011447 disease phenotype-associated VAR_011447 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011448 commonName VAR_011448 VAR_011448 disease phenotype-associated VAR_011448 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011449 commonName VAR_011449 VAR_011449 disease phenotype-associated VAR_011449 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011450 commonName VAR_011450 VAR_011450 disease phenotype-associated VAR_011450 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011451 commonName VAR_011451 VAR_011451 disease phenotype-associated VAR_011451 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011452 commonName VAR_011452 VAR_011452 disease phenotype-associated VAR_011452 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011453 commonName VAR_011453 VAR_011453 disease phenotype-associated VAR_011453 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011454 commonName VAR_011454 VAR_011454 disease phenotype-associated VAR_011454 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011455 commonName VAR_011455 VAR_011455 disease phenotype-associated VAR_011455 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011456 commonName VAR_011456 VAR_011456 disease phenotype-associated VAR_011456 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011458 commonName VAR_011458 VAR_011458 disease phenotype-associated VAR_011458 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011459 commonName VAR_011459 VAR_011459 disease phenotype-associated VAR_011459 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011460 commonName VAR_011460 VAR_011460 disease phenotype-associated VAR_011460 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011461 commonName VAR_011461 VAR_011461 disease phenotype-associated VAR_011461 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011462 commonName VAR_011462 VAR_011462 disease phenotype-associated VAR_011462 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011463 commonName VAR_011463 VAR_011463 disease phenotype-associated VAR_011463 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011464 commonName VAR_011464 VAR_011464 disease phenotype-associated VAR_011464 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011465 commonName VAR_011465 VAR_011465 disease phenotype-associated VAR_011465 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011466 commonName VAR_011466 VAR_011466 disease phenotype-associated VAR_011466 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011467 commonName VAR_011467 VAR_011467 disease phenotype-associated VAR_011467 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011468 commonName VAR_011468 VAR_011468 disease phenotype-associated VAR_011468 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011469 commonName VAR_011469 VAR_011469 disease phenotype-associated VAR_011469 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011470 commonName VAR_011470 VAR_011470 disease phenotype-associated VAR_011470 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011471 commonName VAR_011471 VAR_011471 disease phenotype-associated VAR_011471 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011472 commonName VAR_011472 VAR_011472 disease phenotype-associated VAR_011472 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011473 commonName VAR_011473 VAR_011473 disease phenotype-associated VAR_011473 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011474 commonName VAR_011474 VAR_011474 disease phenotype-associated VAR_011474 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011475 commonName VAR_011475 VAR_011475 disease phenotype-associated VAR_011475 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011476 commonName VAR_011476 VAR_011476 disease phenotype-associated VAR_011476 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011477 commonName VAR_011477 VAR_011477 disease phenotype-associated VAR_011477 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011478 commonName VAR_011478 VAR_011478 disease phenotype-associated VAR_011478 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011479 commonName VAR_011479 VAR_011479 disease phenotype-associated VAR_011479 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011480 commonName VAR_011480 VAR_011480 disease phenotype-associated VAR_011480 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011481 commonName VAR_011481 VAR_011481 disease phenotype-associated VAR_011481 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011482 commonName VAR_011482 VAR_011482 disease phenotype-associated VAR_011482 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_011483 commonName VAR_011483 VAR_011483 disease phenotype-associated VAR_011483 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_011484 commonName VAR_011484 VAR_011484 disease phenotype-associated VAR_011484 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_011486 commonName VAR_011486 VAR_011486 disease not phenotype-associated VAR_011488 commonName VAR_011488 VAR_011488 disease not phenotype-associated VAR_011489 commonName VAR_011489 VAR_011489 disease not phenotype-associated VAR_011490 commonName VAR_011490 VAR_011490 disease not phenotype-associated VAR_011491 commonName VAR_011491 VAR_011491 disease phenotype-associated VAR_011491 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_011492 commonName VAR_011492 VAR_011492 disease phenotype-associated VAR_011492 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_011493 commonName VAR_011493 VAR_011493 disease phenotype-associated VAR_011493 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_011494 commonName VAR_011494 VAR_011494 disease not phenotype-associated VAR_011495 commonName VAR_011495 VAR_011495 disease phenotype-associated VAR_011495 phenoCommon Arterial calcification of infancy, generalized, type 2 (GACI2) [MIM:614473] VAR_011495 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_011496 commonName VAR_011496 VAR_011496 disease not phenotype-associated VAR_011497 commonName VAR_011497 VAR_011497 disease phenotype-associated VAR_011497 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219] VAR_011498 commonName VAR_011498 VAR_011498 disease phenotype-associated VAR_011498 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219] VAR_011499 commonName VAR_011499 VAR_011499 disease phenotype-associated VAR_011499 phenoCommon Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860] VAR_011500 commonName VAR_011500 VAR_011500 disease phenotype-associated VAR_011500 phenoCommon Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860] VAR_011501 commonName VAR_011501 VAR_011501 disease phenotype-associated VAR_011501 phenoCommon Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860] VAR_011503 commonName VAR_011503 VAR_011503 disease phenotype-associated VAR_011503 phenoCommon Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860] VAR_011504 commonName VAR_011504 VAR_011504 disease phenotype-associated VAR_011504 phenoCommon Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860] VAR_011505 commonName VAR_011505 VAR_011505 disease phenotype-associated VAR_011505 phenoCommon DMGDH deficiency (DMGDHD) [MIM:605850] VAR_011506 commonName VAR_011506 VAR_011506 disease phenotype-associated VAR_011506 phenoCommon Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860] VAR_011507 commonName VAR_011507 VAR_011507 disease phenotype-associated VAR_011507 phenoCommon Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860] VAR_011508 commonName VAR_011508 VAR_011508 disease phenotype-associated VAR_011508 phenoCommon Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860] VAR_011509 commonName VAR_011509 VAR_011509 disease phenotype-associated VAR_011509 phenoCommon Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860] VAR_011510 commonName VAR_011510 VAR_011510 disease phenotype-associated VAR_011510 phenoCommon Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860] VAR_011512 commonName VAR_011512 VAR_011512 disease phenotype-associated VAR_011512 phenoCommon HyperCKmia (HYPCK) [MIM:123320] VAR_011512 phenoCommon Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801] VAR_011512 phenoCommon Myopathy distal Tateyama type (MPDT) [MIM:614321] VAR_011512 phenoCommon Rippling muscle disease (RMD) [MIM:606072] VAR_011513 commonName VAR_011513 VAR_011513 disease phenotype-associated VAR_011513 phenoCommon Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801] VAR_011513 phenoCommon Rippling muscle disease (RMD) [MIM:606072] VAR_011514 commonName VAR_011514 VAR_011514 disease phenotype-associated VAR_011514 phenoCommon Rippling muscle disease (RMD) [MIM:606072] VAR_011515 commonName VAR_011515 VAR_011515 disease phenotype-associated VAR_011515 phenoCommon Charcot-Marie-Tooth disease type 2A1 (CMT2A1) [MIM:118210] VAR_011518 commonName VAR_011518 VAR_011518 disease not phenotype-associated VAR_011519 commonName VAR_011519 VAR_011519 disease phenotype-associated VAR_011519 phenoCommon Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200] VAR_011520 commonName VAR_011520 VAR_011520 disease phenotype-associated VAR_011520 phenoCommon Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200] VAR_011521 commonName VAR_011521 VAR_011521 disease phenotype-associated VAR_011521 phenoCommon Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200] VAR_011522 commonName VAR_011522 VAR_011522 disease phenotype-associated VAR_011522 phenoCommon Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200] VAR_011523 commonName VAR_011523 VAR_011524 commonName VAR_011524 VAR_011524 disease phenotype-associated VAR_011524 phenoCommon Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200] VAR_011525 commonName VAR_011525 VAR_011525 disease phenotype-associated VAR_011525 phenoCommon Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200] VAR_011526 commonName VAR_011526 VAR_011526 disease phenotype-associated VAR_011526 phenoCommon Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200] VAR_011527 commonName VAR_011527 VAR_011527 disease phenotype-associated VAR_011527 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] VAR_011528 commonName VAR_011528 VAR_011528 disease phenotype-associated VAR_011528 phenoCommon Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200] VAR_011529 commonName VAR_011529 VAR_011529 disease phenotype-associated VAR_011529 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] VAR_011530 commonName VAR_011530 VAR_011530 disease phenotype-associated VAR_011530 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] VAR_011531 commonName VAR_011531 VAR_011531 disease phenotype-associated VAR_011531 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] VAR_011532 commonName VAR_011532 VAR_011532 disease phenotype-associated VAR_011532 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] VAR_011533 commonName VAR_011533 VAR_011533 disease phenotype-associated VAR_011533 phenoCommon Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200] VAR_011534 commonName VAR_011534 VAR_011534 disease phenotype-associated VAR_011534 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] VAR_011535 commonName VAR_011535 VAR_011535 disease phenotype-associated VAR_011535 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] VAR_011536 commonName VAR_011536 VAR_011537 commonName VAR_011537 VAR_011537 disease phenotype-associated VAR_011537 phenoCommon Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200] VAR_011538 commonName VAR_011538 VAR_011538 disease phenotype-associated VAR_011538 phenoCommon Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200] VAR_011539 commonName VAR_011539 VAR_011539 disease phenotype-associated VAR_011539 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] VAR_011540 commonName VAR_011540 VAR_011541 commonName VAR_011541 VAR_011541 disease not phenotype-associated VAR_011542 commonName VAR_011542 VAR_011543 commonName VAR_011543 VAR_011544 commonName VAR_011544 VAR_011545 commonName VAR_011545 VAR_011545 disease phenotype-associated VAR_011545 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] VAR_011546 commonName VAR_011546 VAR_011546 disease phenotype-associated VAR_011546 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] VAR_011547 commonName VAR_011547 VAR_011547 disease phenotype-associated VAR_011547 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] VAR_011548 commonName VAR_011548 VAR_011549 commonName VAR_011549 VAR_011549 disease phenotype-associated VAR_011549 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] VAR_011550 commonName VAR_011550 VAR_011550 disease not phenotype-associated VAR_011551 commonName VAR_011551 VAR_011552 commonName VAR_011552 VAR_011552 disease phenotype-associated VAR_011552 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] VAR_011553 commonName VAR_011553 VAR_011553 disease phenotype-associated VAR_011553 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] VAR_011554 commonName VAR_011554 VAR_011554 disease phenotype-associated VAR_011554 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] VAR_011556 commonName VAR_011556 VAR_011556 disease phenotype-associated VAR_011556 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] VAR_011557 commonName VAR_011557 VAR_011557 disease phenotype-associated VAR_011557 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] VAR_011558 comment Thyroid carcinoma VAR_011558 commonName VAR_011558 VAR_011559 commonName VAR_011559 VAR_011559 disease not phenotype-associated VAR_011560 commonName VAR_011560 VAR_011560 disease not phenotype-associated VAR_011566 commonName VAR_011566 VAR_011566 disease phenotype-associated VAR_011566 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_011567 commonName VAR_011567 VAR_011567 disease phenotype-associated VAR_011567 phenoCommon Hyperphenylalaninemia (HPA) [MIM:261600] VAR_011568 commonName VAR_011568 VAR_011568 disease phenotype-associated VAR_011568 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_011569 commonName VAR_011569 VAR_011569 disease phenotype-associated VAR_011569 phenoCommon Hyperphenylalaninemia (HPA) [MIM:261600] VAR_011570 commonName VAR_011570 VAR_011570 disease phenotype-associated VAR_011570 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_011571 commonName VAR_011571 VAR_011571 disease phenotype-associated VAR_011571 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_011572 commonName VAR_011572 VAR_011572 disease phenotype-associated VAR_011572 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_011573 commonName VAR_011573 VAR_011573 disease not phenotype-associated VAR_011574 commonName VAR_011574 VAR_011574 disease phenotype-associated VAR_011574 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_011575 commonName VAR_011575 VAR_011575 disease phenotype-associated VAR_011575 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_011576 commonName VAR_011576 VAR_011576 disease phenotype-associated VAR_011576 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_011577 commonName VAR_011577 VAR_011577 disease not phenotype-associated VAR_011578 commonName VAR_011578 VAR_011578 disease not phenotype-associated VAR_011579 commonName VAR_011579 VAR_011579 disease not phenotype-associated VAR_011580 commonName VAR_011580 VAR_011580 disease phenotype-associated VAR_011580 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200] VAR_011581 commonName VAR_011581 VAR_011581 disease phenotype-associated VAR_011581 phenoCommon Childhood cancer retinoblastoma (RB) [MIM:180200] VAR_011582 commonName VAR_011582 VAR_011582 disease phenotype-associated VAR_011582 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240] VAR_011583 commonName VAR_011583 VAR_011583 disease not phenotype-associated VAR_011584 commonName VAR_011584 VAR_011584 disease not phenotype-associated VAR_011585 commonName VAR_011585 VAR_011585 disease phenotype-associated VAR_011585 phenoCommon Platelet-activating factor acetylhydrolase deficiency (PAFAD) [MIM:614278] VAR_011586 commonName VAR_011586 VAR_011586 disease not phenotype-associated VAR_011587 commonName VAR_011587 VAR_011587 disease phenotype-associated VAR_011587 phenoCommon Cowden disease (CD) [MIM:158350] VAR_011588 comment Multiple cancers VAR_011588 commonName VAR_011588 VAR_011589 comment Multiple cancers VAR_011589 commonName VAR_011589 VAR_011590 commonName VAR_011590 VAR_011590 disease not phenotype-associated VAR_011591 commonName VAR_011591 VAR_011591 disease not phenotype-associated VAR_011592 commonName VAR_011592 VAR_011592 disease not phenotype-associated VAR_011594 commonName VAR_011594 VAR_011594 disease not phenotype-associated VAR_011596 commonName VAR_011596 VAR_011596 disease phenotype-associated VAR_011596 phenoCommon Hermansky-Pudlak syndrome type 2 (HPS2) [MIM:608233] VAR_011597 commonName VAR_011597 VAR_011597 disease not phenotype-associated VAR_011598 commonName VAR_011598 VAR_011598 disease not phenotype-associated VAR_011599 commonName VAR_011599 VAR_011599 disease not phenotype-associated VAR_011600 commonName VAR_011600 VAR_011600 disease not phenotype-associated VAR_011601 commonName VAR_011601 VAR_011601 disease not phenotype-associated VAR_011602 commonName VAR_011602 VAR_011602 disease not phenotype-associated VAR_011603 commonName VAR_011603 VAR_011603 disease not phenotype-associated VAR_011604 commonName VAR_011604 VAR_011604 disease not phenotype-associated VAR_011605 commonName VAR_011605 VAR_011605 disease not phenotype-associated VAR_011606 commonName VAR_011606 VAR_011606 disease not phenotype-associated VAR_011607 commonName VAR_011607 VAR_011607 disease not phenotype-associated VAR_011608 commonName VAR_011608 VAR_011608 disease not phenotype-associated VAR_011609 commonName VAR_011609 VAR_011609 disease not phenotype-associated VAR_011610 commonName VAR_011610 VAR_011610 disease not phenotype-associated VAR_011611 commonName VAR_011611 VAR_011611 disease not phenotype-associated VAR_011612 commonName VAR_011612 VAR_011612 disease not phenotype-associated VAR_011613 commonName VAR_011613 VAR_011613 disease not phenotype-associated VAR_011614 commonName VAR_011614 VAR_011614 disease phenotype-associated VAR_011614 phenoCommon Prolidase deficiency (PD) [MIM:170100] VAR_011615 commonName VAR_011615 VAR_011615 disease phenotype-associated VAR_011615 phenoCommon Prolidase deficiency (PD) [MIM:170100] VAR_011616 commonName VAR_011616 VAR_011616 disease not phenotype-associated VAR_011617 commonName VAR_011617 VAR_011617 disease not phenotype-associated VAR_011618 commonName VAR_011618 VAR_011618 disease phenotype-associated VAR_011618 phenoCommon Microphthalmia with cataracts and iris abnormalities (MCOPCTI) [MIM:610092] VAR_011619 commonName VAR_011619 VAR_011619 disease phenotype-associated VAR_011619 phenoCommon Microphthalmia with cataracts and iris abnormalities (MCOPCTI) [MIM:610092] VAR_011620 commonName VAR_011620 VAR_011621 commonName VAR_011621 VAR_011621 disease not phenotype-associated VAR_011623 commonName VAR_011623 VAR_011623 disease phenotype-associated VAR_011623 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_011624 commonName VAR_011624 VAR_011624 disease phenotype-associated VAR_011624 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] VAR_011624 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_011625 comment Cancer VAR_011625 commonName VAR_011625 VAR_011626 commonName VAR_011626 VAR_011626 disease not phenotype-associated VAR_011627 comment Cancer VAR_011627 commonName VAR_011627 VAR_011628 comment Cancer VAR_011628 commonName VAR_011628 VAR_011630 commonName VAR_011630 VAR_011630 disease not phenotype-associated VAR_011631 commonName VAR_011631 VAR_011631 disease not phenotype-associated VAR_011632 commonName VAR_011632 VAR_011632 disease not phenotype-associated VAR_011633 commonName VAR_011633 VAR_011633 disease phenotype-associated VAR_011633 phenoCommon Narcolepsy type 1 (NRCLP1) [MIM:161400] VAR_011634 commonName VAR_011634 VAR_011635 commonName VAR_011635 VAR_011636 commonName VAR_011636 VAR_011638 commonName VAR_011638 VAR_011639 commonName VAR_011639 VAR_011639 disease not phenotype-associated VAR_011640 commonName VAR_011640 VAR_011640 disease not phenotype-associated VAR_011641 commonName VAR_011641 VAR_011641 disease phenotype-associated VAR_011641 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105] VAR_011642 commonName VAR_011642 VAR_011642 disease phenotype-associated VAR_011642 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105] VAR_011643 commonName VAR_011643 VAR_011643 disease phenotype-associated VAR_011643 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835] VAR_011643 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105] VAR_011644 commonName VAR_011644 VAR_011644 disease phenotype-associated VAR_011644 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835] VAR_011644 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105] VAR_011650 commonName VAR_011650 VAR_011650 disease not phenotype-associated VAR_011651 commonName VAR_011651 VAR_011651 disease not phenotype-associated VAR_011652 commonName VAR_011652 VAR_011652 disease phenotype-associated VAR_011652 phenoCommon Pancreatitis (PCTT) [MIM:167800] VAR_011653 commonName VAR_011653 VAR_011653 disease phenotype-associated VAR_011653 phenoCommon Pancreatitis (PCTT) [MIM:167800] VAR_011654 commonName VAR_011654 VAR_011654 disease phenotype-associated VAR_011654 phenoCommon Pancreatitis (PCTT) [MIM:167800] VAR_011655 commonName VAR_011655 VAR_011655 disease phenotype-associated VAR_011655 phenoCommon Pancreatitis (PCTT) [MIM:167800] VAR_011656 commonName VAR_011656 VAR_011656 disease phenotype-associated VAR_011656 phenoCommon Pancreatitis (PCTT) [MIM:167800] VAR_011657 commonName VAR_011657 VAR_011657 disease not phenotype-associated VAR_011658 commonName VAR_011658 VAR_011658 disease not phenotype-associated VAR_011659 commonName VAR_011659 VAR_011659 disease not phenotype-associated VAR_011660 commonName VAR_011660 VAR_011660 disease not phenotype-associated VAR_011661 commonName VAR_011661 VAR_011661 disease not phenotype-associated VAR_011664 commonName VAR_011664 VAR_011664 disease not phenotype-associated VAR_011665 commonName VAR_011665 VAR_011665 disease not phenotype-associated VAR_011666 commonName VAR_011666 VAR_011666 disease phenotype-associated VAR_011666 phenoCommon Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210] VAR_011667 commonName VAR_011667 VAR_011667 disease phenotype-associated VAR_011667 phenoCommon Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210] VAR_011668 commonName VAR_011668 VAR_011668 disease phenotype-associated VAR_011668 phenoCommon Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210] VAR_011669 commonName VAR_011669 VAR_011669 disease phenotype-associated VAR_011669 phenoCommon Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210] VAR_011670 commonName VAR_011670 VAR_011670 disease phenotype-associated VAR_011670 phenoCommon Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210] VAR_011671 commonName VAR_011671 VAR_011671 disease phenotype-associated VAR_011671 phenoCommon Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210] VAR_011672 commonName VAR_011672 VAR_011672 disease phenotype-associated VAR_011672 phenoCommon Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210] VAR_011673 commonName VAR_011673 VAR_011673 disease phenotype-associated VAR_011673 phenoCommon Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210] VAR_011674 commonName VAR_011674 VAR_011674 disease phenotype-associated VAR_011674 phenoCommon Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210] VAR_011675 commonName VAR_011675 VAR_011675 disease not phenotype-associated VAR_011676 commonName VAR_011676 VAR_011676 disease not phenotype-associated VAR_011677 commonName VAR_011677 VAR_011677 disease not phenotype-associated VAR_011678 commonName VAR_011678 VAR_011680 commonName VAR_011680 VAR_011680 disease phenotype-associated VAR_011680 phenoCommon Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM) [MIM:161800] VAR_011681 commonName VAR_011681 VAR_011681 disease phenotype-associated VAR_011681 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_011682 commonName VAR_011682 VAR_011682 disease phenotype-associated VAR_011682 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_011683 commonName VAR_011683 VAR_011683 disease phenotype-associated VAR_011683 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_011684 commonName VAR_011684 VAR_011684 disease phenotype-associated VAR_011684 phenoCommon Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM) [MIM:161800] VAR_011685 commonName VAR_011685 VAR_011685 disease phenotype-associated VAR_011685 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_011686 commonName VAR_011686 VAR_011686 disease phenotype-associated VAR_011686 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_011687 commonName VAR_011687 VAR_011687 disease phenotype-associated VAR_011687 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_011688 commonName VAR_011688 VAR_011688 disease phenotype-associated VAR_011688 phenoCommon Pancreatitis (PCTT) [MIM:167800] VAR_011689 commonName VAR_011689 VAR_011689 disease phenotype-associated VAR_011689 phenoCommon Pancreatitis (PCTT) [MIM:167800] VAR_011689 phenoCommon Tropical calcific pancreatitis (TCP) [MIM:608189] VAR_011690 commonName VAR_011690 VAR_011690 disease not phenotype-associated VAR_011691 commonName VAR_011691 VAR_011691 disease not phenotype-associated VAR_011692 commonName VAR_011692 VAR_011692 disease not phenotype-associated VAR_011693 commonName VAR_011693 VAR_011693 disease phenotype-associated VAR_011693 phenoCommon Pancreatitis (PCTT) [MIM:167800] VAR_011698 commonName VAR_011698 VAR_011698 disease phenotype-associated VAR_011698 phenoCommon GM2-gangliosidosis type AB (GM2GAB) [MIM:272750] VAR_011699 commonName VAR_011699 VAR_011699 disease phenotype-associated VAR_011699 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004] VAR_011700 commonName VAR_011700 VAR_011700 disease phenotype-associated VAR_011700 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004] VAR_011701 commonName VAR_011701 VAR_011701 disease phenotype-associated VAR_011701 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004] VAR_011702 commonName VAR_011702 VAR_011702 disease phenotype-associated VAR_011702 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004] VAR_011703 commonName VAR_011703 VAR_011703 disease not phenotype-associated VAR_011704 commonName VAR_011704 VAR_011704 disease phenotype-associated VAR_011704 phenoCommon GM2-gangliosidosis type 2 (GM2G2) [MIM:268800] VAR_011707 commonName VAR_011707 VAR_011707 disease not phenotype-associated VAR_011708 commonName VAR_011708 VAR_011708 disease not phenotype-associated VAR_011709 commonName VAR_011709 VAR_011709 disease not phenotype-associated VAR_011713 commonName VAR_011713 VAR_011713 disease not phenotype-associated VAR_011714 commonName VAR_011714 VAR_011714 disease not phenotype-associated VAR_011715 commonName VAR_011715 VAR_011715 disease not phenotype-associated VAR_011716 commonName VAR_011716 VAR_011716 disease not phenotype-associated VAR_011717 commonName VAR_011717 VAR_011717 disease not phenotype-associated VAR_011718 commonName VAR_011718 VAR_011718 disease not phenotype-associated VAR_011719 commonName VAR_011719 VAR_011719 disease not phenotype-associated VAR_011720 commonName VAR_011720 VAR_011720 disease not phenotype-associated VAR_011721 commonName VAR_011721 VAR_011721 disease not phenotype-associated VAR_011722 commonName VAR_011722 VAR_011722 disease not phenotype-associated VAR_011723 commonName VAR_011723 VAR_011723 disease not phenotype-associated VAR_011724 commonName VAR_011724 VAR_011724 disease not phenotype-associated VAR_011725 commonName VAR_011725 VAR_011725 disease not phenotype-associated VAR_011726 commonName VAR_011726 VAR_011726 disease not phenotype-associated VAR_011727 commonName VAR_011727 VAR_011727 disease not phenotype-associated VAR_011728 commonName VAR_011728 VAR_011728 disease not phenotype-associated VAR_011729 commonName VAR_011729 VAR_011729 disease not phenotype-associated VAR_011730 commonName VAR_011730 VAR_011730 disease not phenotype-associated VAR_011731 commonName VAR_011731 VAR_011731 disease not phenotype-associated VAR_011732 commonName VAR_011732 VAR_011732 disease not phenotype-associated VAR_011733 commonName VAR_011733 VAR_011733 disease not phenotype-associated VAR_011735 commonName VAR_011735 VAR_011735 disease not phenotype-associated VAR_011736 commonName VAR_011736 VAR_011736 disease not phenotype-associated VAR_011737 commonName VAR_011737 VAR_011737 disease not phenotype-associated VAR_011738 commonName VAR_011738 VAR_011738 disease not phenotype-associated VAR_011739 commonName VAR_011739 VAR_011739 disease not phenotype-associated VAR_011740 commonName VAR_011740 VAR_011740 disease not phenotype-associated VAR_011741 commonName VAR_011741 VAR_011741 disease not phenotype-associated VAR_011742 commonName VAR_011742 VAR_011742 disease not phenotype-associated VAR_011743 commonName VAR_011743 VAR_011743 disease not phenotype-associated VAR_011744 commonName VAR_011744 VAR_011744 disease not phenotype-associated VAR_011745 commonName VAR_011745 VAR_011745 disease not phenotype-associated VAR_011746 commonName VAR_011746 VAR_011746 disease not phenotype-associated VAR_011747 commonName VAR_011747 VAR_011747 disease not phenotype-associated VAR_011748 commonName VAR_011748 VAR_011748 disease not phenotype-associated VAR_011749 commonName VAR_011749 VAR_011749 disease not phenotype-associated VAR_011750 commonName VAR_011750 VAR_011750 disease not phenotype-associated VAR_011751 commonName VAR_011751 VAR_011751 disease not phenotype-associated VAR_011752 commonName VAR_011752 VAR_011752 disease not phenotype-associated VAR_011753 commonName VAR_011753 VAR_011753 disease not phenotype-associated VAR_011754 commonName VAR_011754 VAR_011754 disease not phenotype-associated VAR_011755 commonName VAR_011755 VAR_011755 disease not phenotype-associated VAR_011756 commonName VAR_011756 VAR_011756 disease not phenotype-associated VAR_011757 commonName VAR_011757 VAR_011757 disease not phenotype-associated VAR_011758 commonName VAR_011758 VAR_011758 disease not phenotype-associated VAR_011759 commonName VAR_011759 VAR_011759 disease not phenotype-associated VAR_011760 commonName VAR_011760 VAR_011760 disease not phenotype-associated VAR_011761 commonName VAR_011761 VAR_011761 disease not phenotype-associated VAR_011762 commonName VAR_011762 VAR_011762 disease not phenotype-associated VAR_011763 commonName VAR_011763 VAR_011763 disease not phenotype-associated VAR_011764 commonName VAR_011764 VAR_011764 disease not phenotype-associated VAR_011765 commonName VAR_011765 VAR_011765 disease not phenotype-associated VAR_011766 commonName VAR_011766 VAR_011766 disease not phenotype-associated VAR_011767 commonName VAR_011767 VAR_011767 disease not phenotype-associated VAR_011768 commonName VAR_011768 VAR_011768 disease not phenotype-associated VAR_011769 commonName VAR_011769 VAR_011769 disease not phenotype-associated VAR_011770 commonName VAR_011770 VAR_011770 disease not phenotype-associated VAR_011771 commonName VAR_011771 VAR_011771 disease not phenotype-associated VAR_011773 commonName VAR_011773 VAR_011773 disease not phenotype-associated VAR_011774 commonName VAR_011774 VAR_011774 disease not phenotype-associated VAR_011775 commonName VAR_011775 VAR_011775 disease not phenotype-associated VAR_011776 commonName VAR_011776 VAR_011776 disease not phenotype-associated VAR_011777 commonName VAR_011777 VAR_011777 disease not phenotype-associated VAR_011778 commonName VAR_011778 VAR_011778 disease not phenotype-associated VAR_011779 commonName VAR_011779 VAR_011779 disease not phenotype-associated VAR_011780 commonName VAR_011780 VAR_011780 disease not phenotype-associated VAR_011781 commonName VAR_011781 VAR_011781 disease not phenotype-associated VAR_011782 commonName VAR_011782 VAR_011782 disease not phenotype-associated VAR_011783 commonName VAR_011783 VAR_011783 disease not phenotype-associated VAR_011784 commonName VAR_011784 VAR_011784 disease not phenotype-associated VAR_011785 commonName VAR_011785 VAR_011785 disease not phenotype-associated VAR_011786 commonName VAR_011786 VAR_011786 disease not phenotype-associated VAR_011788 commonName VAR_011788 VAR_011788 disease not phenotype-associated VAR_011789 commonName VAR_011789 VAR_011789 disease not phenotype-associated VAR_011790 commonName VAR_011790 VAR_011790 disease not phenotype-associated VAR_011791 commonName VAR_011791 VAR_011791 disease not phenotype-associated VAR_011792 commonName VAR_011792 VAR_011792 disease not phenotype-associated VAR_011793 commonName VAR_011793 VAR_011793 disease not phenotype-associated VAR_011794 commonName VAR_011794 VAR_011794 disease not phenotype-associated VAR_011795 commonName VAR_011795 VAR_011795 disease not phenotype-associated VAR_011796 commonName VAR_011796 VAR_011796 disease not phenotype-associated VAR_011797 commonName VAR_011797 VAR_011797 disease not phenotype-associated VAR_011798 commonName VAR_011798 VAR_011798 disease not phenotype-associated VAR_011799 commonName VAR_011799 VAR_011799 disease not phenotype-associated VAR_011800 commonName VAR_011800 VAR_011800 disease not phenotype-associated VAR_011801 commonName VAR_011801 VAR_011801 disease not phenotype-associated VAR_011802 commonName VAR_011802 VAR_011802 disease not phenotype-associated VAR_011803 commonName VAR_011803 VAR_011803 disease not phenotype-associated VAR_011804 commonName VAR_011804 VAR_011804 disease not phenotype-associated VAR_011806 commonName VAR_011806 VAR_011806 disease not phenotype-associated VAR_011807 commonName VAR_011807 VAR_011807 disease not phenotype-associated VAR_011808 commonName VAR_011808 VAR_011808 disease not phenotype-associated VAR_011809 commonName VAR_011809 VAR_011809 disease not phenotype-associated VAR_011810 commonName VAR_011810 VAR_011810 disease not phenotype-associated VAR_011811 commonName VAR_011811 VAR_011811 disease not phenotype-associated VAR_011812 commonName VAR_011812 VAR_011812 disease not phenotype-associated VAR_011813 commonName VAR_011813 VAR_011813 disease not phenotype-associated VAR_011814 commonName VAR_011814 VAR_011814 disease not phenotype-associated VAR_011815 commonName VAR_011815 VAR_011815 disease not phenotype-associated VAR_011816 commonName VAR_011816 VAR_011816 disease not phenotype-associated VAR_011817 commonName VAR_011817 VAR_011817 disease not phenotype-associated VAR_011818 commonName VAR_011818 VAR_011818 disease not phenotype-associated VAR_011820 commonName VAR_011820 VAR_011820 disease not phenotype-associated VAR_011821 commonName VAR_011821 VAR_011821 disease not phenotype-associated VAR_011823 commonName VAR_011823 VAR_011823 disease not phenotype-associated VAR_011824 commonName VAR_011824 VAR_011824 disease not phenotype-associated VAR_011825 commonName VAR_011825 VAR_011825 disease not phenotype-associated VAR_011826 commonName VAR_011826 VAR_011826 disease not phenotype-associated VAR_011827 commonName VAR_011827 VAR_011827 disease not phenotype-associated VAR_011828 commonName VAR_011828 VAR_011828 disease not phenotype-associated VAR_011829 commonName VAR_011829 VAR_011829 disease not phenotype-associated VAR_011830 commonName VAR_011830 VAR_011830 disease not phenotype-associated VAR_011831 commonName VAR_011831 VAR_011831 disease not phenotype-associated VAR_011832 commonName VAR_011832 VAR_011832 disease not phenotype-associated VAR_011833 commonName VAR_011833 VAR_011833 disease not phenotype-associated VAR_011834 commonName VAR_011834 VAR_011834 disease not phenotype-associated VAR_011835 commonName VAR_011835 VAR_011835 disease not phenotype-associated VAR_011837 commonName VAR_011837 VAR_011837 disease not phenotype-associated VAR_011839 commonName VAR_011839 VAR_011839 disease not phenotype-associated VAR_011840 commonName VAR_011840 VAR_011840 disease not phenotype-associated VAR_011841 commonName VAR_011841 VAR_011841 disease not phenotype-associated VAR_011842 commonName VAR_011842 VAR_011842 disease not phenotype-associated VAR_011843 commonName VAR_011843 VAR_011843 disease not phenotype-associated VAR_011844 commonName VAR_011844 VAR_011844 disease not phenotype-associated VAR_011845 commonName VAR_011845 VAR_011845 disease not phenotype-associated VAR_011846 commonName VAR_011846 VAR_011846 disease not phenotype-associated VAR_011847 commonName VAR_011847 VAR_011847 disease not phenotype-associated VAR_011848 commonName VAR_011848 VAR_011848 disease not phenotype-associated VAR_011849 commonName VAR_011849 VAR_011849 disease not phenotype-associated VAR_011850 commonName VAR_011850 VAR_011850 disease not phenotype-associated VAR_011851 commonName VAR_011851 VAR_011851 disease not phenotype-associated VAR_011852 commonName VAR_011852 VAR_011852 disease not phenotype-associated VAR_011853 commonName VAR_011853 VAR_011853 disease not phenotype-associated VAR_011854 commonName VAR_011854 VAR_011854 disease not phenotype-associated VAR_011855 commonName VAR_011855 VAR_011855 disease not phenotype-associated VAR_011856 commonName VAR_011856 VAR_011856 disease not phenotype-associated VAR_011857 commonName VAR_011857 VAR_011857 disease not phenotype-associated VAR_011858 commonName VAR_011858 VAR_011858 disease not phenotype-associated VAR_011859 commonName VAR_011859 VAR_011859 disease not phenotype-associated VAR_011860 commonName VAR_011860 VAR_011860 disease not phenotype-associated VAR_011861 commonName VAR_011861 VAR_011861 disease not phenotype-associated VAR_011862 commonName VAR_011862 VAR_011862 disease not phenotype-associated VAR_011863 commonName VAR_011863 VAR_011863 disease not phenotype-associated VAR_011865 commonName VAR_011865 VAR_011865 disease not phenotype-associated VAR_011866 commonName VAR_011866 VAR_011866 disease not phenotype-associated VAR_011867 commonName VAR_011867 VAR_011867 disease not phenotype-associated VAR_011868 commonName VAR_011868 VAR_011868 disease not phenotype-associated VAR_011869 commonName VAR_011869 VAR_011869 disease not phenotype-associated VAR_011870 commonName VAR_011870 VAR_011870 disease not phenotype-associated VAR_011871 commonName VAR_011871 VAR_011871 disease not phenotype-associated VAR_011872 commonName VAR_011872 VAR_011872 disease not phenotype-associated VAR_011873 commonName VAR_011873 VAR_011873 disease not phenotype-associated VAR_011876 commonName VAR_011876 VAR_011876 disease not phenotype-associated VAR_011877 commonName VAR_011877 VAR_011877 disease not phenotype-associated VAR_011878 commonName VAR_011878 VAR_011878 disease not phenotype-associated VAR_011880 commonName VAR_011880 VAR_011880 disease not phenotype-associated VAR_011881 commonName VAR_011881 VAR_011881 disease not phenotype-associated VAR_011882 commonName VAR_011882 VAR_011882 disease not phenotype-associated VAR_011883 commonName VAR_011883 VAR_011883 disease not phenotype-associated VAR_011884 commonName VAR_011884 VAR_011884 disease not phenotype-associated VAR_011885 commonName VAR_011885 VAR_011885 disease not phenotype-associated VAR_011886 commonName VAR_011886 VAR_011886 disease not phenotype-associated VAR_011887 commonName VAR_011887 VAR_011887 disease not phenotype-associated VAR_011888 commonName VAR_011888 VAR_011888 disease not phenotype-associated VAR_011889 commonName VAR_011889 VAR_011889 disease not phenotype-associated VAR_011890 commonName VAR_011890 VAR_011890 disease not phenotype-associated VAR_011891 commonName VAR_011891 VAR_011891 disease not phenotype-associated VAR_011892 commonName VAR_011892 VAR_011892 disease not phenotype-associated VAR_011893 commonName VAR_011893 VAR_011893 disease not phenotype-associated VAR_011894 commonName VAR_011894 VAR_011894 disease not phenotype-associated VAR_011895 commonName VAR_011895 VAR_011895 disease not phenotype-associated VAR_011896 commonName VAR_011896 VAR_011896 disease not phenotype-associated VAR_011897 commonName VAR_011897 VAR_011897 disease not phenotype-associated VAR_011898 commonName VAR_011898 VAR_011898 disease not phenotype-associated VAR_011899 commonName VAR_011899 VAR_011899 disease not phenotype-associated VAR_011900 commonName VAR_011900 VAR_011900 disease not phenotype-associated VAR_011901 commonName VAR_011901 VAR_011901 disease not phenotype-associated VAR_011902 commonName VAR_011902 VAR_011902 disease not phenotype-associated VAR_011903 commonName VAR_011903 VAR_011903 disease not phenotype-associated VAR_011904 commonName VAR_011904 VAR_011904 disease not phenotype-associated VAR_011905 commonName VAR_011905 VAR_011905 disease not phenotype-associated VAR_011906 commonName VAR_011906 VAR_011906 disease not phenotype-associated VAR_011907 commonName VAR_011907 VAR_011907 disease not phenotype-associated VAR_011908 commonName VAR_011908 VAR_011908 disease not phenotype-associated VAR_011911 commonName VAR_011911 VAR_011911 disease not phenotype-associated VAR_011912 commonName VAR_011912 VAR_011912 disease not phenotype-associated VAR_011913 commonName VAR_011913 VAR_011913 disease not phenotype-associated VAR_011914 commonName VAR_011914 VAR_011914 disease not phenotype-associated VAR_011915 commonName VAR_011915 VAR_011915 disease not phenotype-associated VAR_011916 commonName VAR_011916 VAR_011916 disease not phenotype-associated VAR_011917 commonName VAR_011917 VAR_011917 disease phenotype-associated VAR_011917 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] VAR_011918 commonName VAR_011918 VAR_011918 disease not phenotype-associated VAR_011919 commonName VAR_011919 VAR_011919 disease not phenotype-associated VAR_011920 commonName VAR_011920 VAR_011920 disease not phenotype-associated VAR_011921 commonName VAR_011921 VAR_011921 disease not phenotype-associated VAR_011922 commonName VAR_011922 VAR_011922 disease not phenotype-associated VAR_011923 commonName VAR_011923 VAR_011923 disease not phenotype-associated VAR_011924 commonName VAR_011924 VAR_011924 disease not phenotype-associated VAR_011925 commonName VAR_011925 VAR_011925 disease not phenotype-associated VAR_011926 commonName VAR_011926 VAR_011926 disease not phenotype-associated VAR_011928 commonName VAR_011928 VAR_011928 disease not phenotype-associated VAR_011930 commonName VAR_011930 VAR_011930 disease not phenotype-associated VAR_011931 commonName VAR_011931 VAR_011931 disease not phenotype-associated VAR_011932 commonName VAR_011932 VAR_011932 disease not phenotype-associated VAR_011933 commonName VAR_011933 VAR_011933 disease not phenotype-associated VAR_011934 commonName VAR_011934 VAR_011934 disease not phenotype-associated VAR_011935 commonName VAR_011935 VAR_011935 disease not phenotype-associated VAR_011936 commonName VAR_011936 VAR_011936 disease not phenotype-associated VAR_011937 commonName VAR_011937 VAR_011937 disease not phenotype-associated VAR_011938 commonName VAR_011938 VAR_011938 disease not phenotype-associated VAR_011939 commonName VAR_011939 VAR_011939 disease not phenotype-associated VAR_011940 commonName VAR_011940 VAR_011940 disease not phenotype-associated VAR_011941 commonName VAR_011941 VAR_011941 disease not phenotype-associated VAR_011942 commonName VAR_011942 VAR_011942 disease not phenotype-associated VAR_011943 commonName VAR_011943 VAR_011943 disease not phenotype-associated VAR_011944 commonName VAR_011944 VAR_011944 disease not phenotype-associated VAR_011945 commonName VAR_011945 VAR_011945 disease not phenotype-associated VAR_011947 commonName VAR_011947 VAR_011947 disease not phenotype-associated VAR_011948 commonName VAR_011948 VAR_011948 disease phenotype-associated VAR_011948 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_011949 commonName VAR_011949 VAR_011949 disease not phenotype-associated VAR_011950 commonName VAR_011950 VAR_011950 disease not phenotype-associated VAR_011951 commonName VAR_011951 VAR_011951 disease not phenotype-associated VAR_011952 commonName VAR_011952 VAR_011952 disease not phenotype-associated VAR_011953 commonName VAR_011953 VAR_011953 disease not phenotype-associated VAR_011954 commonName VAR_011954 VAR_011954 disease not phenotype-associated VAR_011955 commonName VAR_011955 VAR_011955 disease not phenotype-associated VAR_011958 commonName VAR_011958 VAR_011958 disease not phenotype-associated VAR_011959 commonName VAR_011959 VAR_011959 disease not phenotype-associated VAR_011960 commonName VAR_011960 VAR_011960 disease not phenotype-associated VAR_011961 commonName VAR_011961 VAR_011961 disease not phenotype-associated VAR_011962 commonName VAR_011962 VAR_011962 disease not phenotype-associated VAR_011963 commonName VAR_011963 VAR_011963 disease not phenotype-associated VAR_011964 commonName VAR_011964 VAR_011964 disease not phenotype-associated VAR_011965 commonName VAR_011965 VAR_011965 disease not phenotype-associated VAR_011966 commonName VAR_011966 VAR_011966 disease not phenotype-associated VAR_011967 commonName VAR_011967 VAR_011967 disease not phenotype-associated VAR_011968 commonName VAR_011968 VAR_011968 disease not phenotype-associated VAR_011969 commonName VAR_011969 VAR_011969 disease not phenotype-associated VAR_011970 commonName VAR_011970 VAR_011970 disease not phenotype-associated VAR_011971 commonName VAR_011971 VAR_011971 disease not phenotype-associated VAR_011972 commonName VAR_011972 VAR_011972 disease not phenotype-associated VAR_011973 commonName VAR_011973 VAR_011973 disease not phenotype-associated VAR_011974 commonName VAR_011974 VAR_011974 disease not phenotype-associated VAR_011975 commonName VAR_011975 VAR_011975 disease not phenotype-associated VAR_011976 commonName VAR_011976 VAR_011976 disease not phenotype-associated VAR_011977 commonName VAR_011977 VAR_011977 disease not phenotype-associated VAR_011978 commonName VAR_011978 VAR_011978 disease not phenotype-associated VAR_011982 commonName VAR_011982 VAR_011982 disease not phenotype-associated VAR_011983 commonName VAR_011983 VAR_011983 disease not phenotype-associated VAR_011984 commonName VAR_011984 VAR_011984 disease not phenotype-associated VAR_011985 commonName VAR_011985 VAR_011985 disease not phenotype-associated VAR_011986 commonName VAR_011986 VAR_011986 disease not phenotype-associated VAR_011987 commonName VAR_011987 VAR_011987 disease not phenotype-associated VAR_011988 commonName VAR_011988 VAR_011988 disease not phenotype-associated VAR_011989 commonName VAR_011989 VAR_011989 disease not phenotype-associated VAR_011990 commonName VAR_011990 VAR_011990 disease not phenotype-associated VAR_011992 commonName VAR_011992 VAR_011992 disease not phenotype-associated VAR_011993 commonName VAR_011993 VAR_011993 disease not phenotype-associated VAR_011994 commonName VAR_011994 VAR_011994 disease not phenotype-associated VAR_011995 commonName VAR_011995 VAR_011995 disease not phenotype-associated VAR_011996 commonName VAR_011996 VAR_011996 disease not phenotype-associated VAR_011997 commonName VAR_011997 VAR_011997 disease not phenotype-associated VAR_011998 commonName VAR_011998 VAR_011998 disease not phenotype-associated VAR_011999 commonName VAR_011999 VAR_011999 disease not phenotype-associated VAR_012002 commonName VAR_012002 VAR_012002 disease not phenotype-associated VAR_012003 commonName VAR_012003 VAR_012003 disease not phenotype-associated VAR_012004 commonName VAR_012004 VAR_012004 disease not phenotype-associated VAR_012005 commonName VAR_012005 VAR_012005 disease not phenotype-associated VAR_012006 commonName VAR_012006 VAR_012006 disease not phenotype-associated VAR_012007 commonName VAR_012007 VAR_012007 disease not phenotype-associated VAR_012008 commonName VAR_012008 VAR_012008 disease not phenotype-associated VAR_012009 commonName VAR_012009 VAR_012009 disease not phenotype-associated VAR_012010 commonName VAR_012010 VAR_012010 disease not phenotype-associated VAR_012011 commonName VAR_012011 VAR_012011 disease not phenotype-associated VAR_012012 commonName VAR_012012 VAR_012012 disease not phenotype-associated VAR_012013 commonName VAR_012013 VAR_012013 disease not phenotype-associated VAR_012014 commonName VAR_012014 VAR_012014 disease not phenotype-associated VAR_012015 commonName VAR_012015 VAR_012015 disease not phenotype-associated VAR_012016 commonName VAR_012016 VAR_012016 disease not phenotype-associated VAR_012017 commonName VAR_012017 VAR_012017 disease not phenotype-associated VAR_012018 commonName VAR_012018 VAR_012018 disease not phenotype-associated VAR_012019 commonName VAR_012019 VAR_012019 disease not phenotype-associated VAR_012020 commonName VAR_012020 VAR_012020 disease not phenotype-associated VAR_012021 commonName VAR_012021 VAR_012021 disease not phenotype-associated VAR_012022 commonName VAR_012022 VAR_012022 disease not phenotype-associated VAR_012023 commonName VAR_012023 VAR_012023 disease not phenotype-associated VAR_012024 commonName VAR_012024 VAR_012024 disease not phenotype-associated VAR_012026 commonName VAR_012026 VAR_012026 disease not phenotype-associated VAR_012027 commonName VAR_012027 VAR_012027 disease not phenotype-associated VAR_012028 commonName VAR_012028 VAR_012028 disease not phenotype-associated VAR_012029 commonName VAR_012029 VAR_012029 disease not phenotype-associated VAR_012030 commonName VAR_012030 VAR_012030 disease not phenotype-associated VAR_012031 commonName VAR_012031 VAR_012031 disease not phenotype-associated VAR_012034 commonName VAR_012034 VAR_012034 disease not phenotype-associated VAR_012035 commonName VAR_012035 VAR_012035 disease not phenotype-associated VAR_012037 commonName VAR_012037 VAR_012037 disease not phenotype-associated VAR_012038 commonName VAR_012038 VAR_012038 disease not phenotype-associated VAR_012039 commonName VAR_012039 VAR_012039 disease not phenotype-associated VAR_012041 commonName VAR_012041 VAR_012041 disease not phenotype-associated VAR_012042 commonName VAR_012042 VAR_012042 disease not phenotype-associated VAR_012043 commonName VAR_012043 VAR_012043 disease not phenotype-associated VAR_012044 commonName VAR_012044 VAR_012044 disease not phenotype-associated VAR_012045 commonName VAR_012045 VAR_012045 disease not phenotype-associated VAR_012046 commonName VAR_012046 VAR_012046 disease not phenotype-associated VAR_012047 commonName VAR_012047 VAR_012047 disease not phenotype-associated VAR_012048 commonName VAR_012048 VAR_012048 disease not phenotype-associated VAR_012050 commonName VAR_012050 VAR_012050 disease not phenotype-associated VAR_012051 commonName VAR_012051 VAR_012051 disease not phenotype-associated VAR_012052 commonName VAR_012052 VAR_012052 disease not phenotype-associated VAR_012053 commonName VAR_012053 VAR_012053 disease not phenotype-associated VAR_012054 commonName VAR_012054 VAR_012054 disease not phenotype-associated VAR_012055 commonName VAR_012055 VAR_012055 disease not phenotype-associated VAR_012056 commonName VAR_012056 VAR_012056 disease not phenotype-associated VAR_012058 commonName VAR_012058 VAR_012058 disease not phenotype-associated VAR_012059 commonName VAR_012059 VAR_012059 disease not phenotype-associated VAR_012060 commonName VAR_012060 VAR_012060 disease not phenotype-associated VAR_012061 commonName VAR_012061 VAR_012061 disease not phenotype-associated VAR_012062 commonName VAR_012062 VAR_012062 disease not phenotype-associated VAR_012063 commonName VAR_012063 VAR_012063 disease not phenotype-associated VAR_012064 commonName VAR_012064 VAR_012064 disease not phenotype-associated VAR_012065 commonName VAR_012065 VAR_012065 disease not phenotype-associated VAR_012066 commonName VAR_012066 VAR_012066 disease not phenotype-associated VAR_012067 commonName VAR_012067 VAR_012067 disease not phenotype-associated VAR_012070 commonName VAR_012070 VAR_012070 disease not phenotype-associated VAR_012071 commonName VAR_012071 VAR_012071 disease not phenotype-associated VAR_012072 commonName VAR_012072 VAR_012072 disease not phenotype-associated VAR_012073 commonName VAR_012073 VAR_012073 disease not phenotype-associated VAR_012075 commonName VAR_012075 VAR_012075 disease not phenotype-associated VAR_012076 commonName VAR_012076 VAR_012076 disease not phenotype-associated VAR_012077 commonName VAR_012077 VAR_012077 disease not phenotype-associated VAR_012078 commonName VAR_012078 VAR_012078 disease not phenotype-associated VAR_012079 commonName VAR_012079 VAR_012079 disease not phenotype-associated VAR_012080 commonName VAR_012080 VAR_012080 disease not phenotype-associated VAR_012083 commonName VAR_012083 VAR_012083 disease not phenotype-associated VAR_012084 commonName VAR_012084 VAR_012084 disease not phenotype-associated VAR_012085 commonName VAR_012085 VAR_012085 disease phenotype-associated VAR_012085 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_012086 commonName VAR_012086 VAR_012086 disease phenotype-associated VAR_012086 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_012087 commonName VAR_012087 VAR_012087 disease phenotype-associated VAR_012087 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_012088 commonName VAR_012088 VAR_012088 disease phenotype-associated VAR_012088 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_012089 commonName VAR_012089 VAR_012089 disease phenotype-associated VAR_012089 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_012090 commonName VAR_012090 VAR_012090 disease phenotype-associated VAR_012090 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_012091 commonName VAR_012091 VAR_012091 disease phenotype-associated VAR_012091 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_012092 commonName VAR_012092 VAR_012092 disease phenotype-associated VAR_012092 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_012093 commonName VAR_012093 VAR_012093 disease phenotype-associated VAR_012093 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_012094 commonName VAR_012094 VAR_012094 disease phenotype-associated VAR_012094 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_012095 commonName VAR_012095 VAR_012095 disease phenotype-associated VAR_012095 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_012096 commonName VAR_012096 VAR_012096 disease phenotype-associated VAR_012096 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_012097 commonName VAR_012097 VAR_012097 disease not phenotype-associated VAR_012098 commonName VAR_012098 VAR_012098 disease not phenotype-associated VAR_012099 commonName VAR_012099 VAR_012099 disease not phenotype-associated VAR_012100 commonName VAR_012100 VAR_012100 disease not phenotype-associated VAR_012101 commonName VAR_012101 VAR_012101 disease not phenotype-associated VAR_012105 commonName VAR_012105 VAR_012105 disease phenotype-associated VAR_012105 phenoCommon Chondrodysplasia punctata X-linked dominant type 2 (CDPX2) [MIM:302960] VAR_012106 commonName VAR_012106 VAR_012106 disease phenotype-associated VAR_012106 phenoCommon Chondrodysplasia punctata X-linked dominant type 2 (CDPX2) [MIM:302960] VAR_012107 commonName VAR_012107 VAR_012107 disease phenotype-associated VAR_012107 phenoCommon Chondrodysplasia punctata X-linked dominant type 2 (CDPX2) [MIM:302960] VAR_012108 commonName VAR_012108 VAR_012108 disease phenotype-associated VAR_012108 phenoCommon Chondrodysplasia punctata X-linked dominant type 2 (CDPX2) [MIM:302960] VAR_012109 commonName VAR_012109 VAR_012109 disease phenotype-associated VAR_012109 phenoCommon Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] VAR_012111 commonName VAR_012111 VAR_012111 disease phenotype-associated VAR_012111 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 2 (PEOA2) [MIM:609283] VAR_012112 commonName VAR_012112 VAR_012112 disease phenotype-associated VAR_012112 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 2 (PEOA2) [MIM:609283] VAR_012113 commonName VAR_012113 VAR_012113 disease phenotype-associated VAR_012113 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] VAR_012115 commonName VAR_012115 VAR_012115 disease phenotype-associated VAR_012115 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] VAR_012116 commonName VAR_012116 VAR_012116 disease phenotype-associated VAR_012116 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] VAR_012117 commonName VAR_012117 VAR_012117 disease phenotype-associated VAR_012117 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] VAR_012118 commonName VAR_012118 VAR_012118 disease phenotype-associated VAR_012118 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] VAR_012119 commonName VAR_012119 VAR_012119 disease phenotype-associated VAR_012119 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] VAR_012120 commonName VAR_012120 VAR_012120 disease phenotype-associated VAR_012120 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] VAR_012121 commonName VAR_012121 VAR_012122 commonName VAR_012122 VAR_012122 disease phenotype-associated VAR_012122 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] VAR_012123 commonName VAR_012123 VAR_012123 disease phenotype-associated VAR_012123 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] VAR_012124 commonName VAR_012124 VAR_012124 disease phenotype-associated VAR_012124 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] VAR_012125 commonName VAR_012125 VAR_012125 disease phenotype-associated VAR_012125 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] VAR_012126 commonName VAR_012126 VAR_012126 disease phenotype-associated VAR_012126 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] VAR_012127 commonName VAR_012127 VAR_012127 disease phenotype-associated VAR_012127 phenoCommon Mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM:309580] VAR_012128 commonName VAR_012128 VAR_012128 disease phenotype-associated VAR_012128 phenoCommon Familial platelet disorder with associated myeloid malignancy (FPDMM) [MIM:601399] VAR_012129 commonName VAR_012129 VAR_012129 disease phenotype-associated VAR_012129 phenoCommon Familial platelet disorder with associated myeloid malignancy (FPDMM) [MIM:601399] VAR_012132 commonName VAR_012132 VAR_012132 disease phenotype-associated VAR_012132 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_012133 commonName VAR_012133 VAR_012133 disease phenotype-associated VAR_012133 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_012134 commonName VAR_012134 VAR_012134 disease phenotype-associated VAR_012134 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_012135 commonName VAR_012135 VAR_012135 disease phenotype-associated VAR_012135 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_012137 commonName VAR_012137 VAR_012137 disease phenotype-associated VAR_012137 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_012138 commonName VAR_012138 VAR_012138 disease phenotype-associated VAR_012138 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_012139 commonName VAR_012139 VAR_012139 disease phenotype-associated VAR_012139 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_012140 commonName VAR_012140 VAR_012140 disease phenotype-associated VAR_012140 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_012141 commonName VAR_012141 VAR_012141 disease phenotype-associated VAR_012141 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_012142 commonName VAR_012142 VAR_012142 disease phenotype-associated VAR_012142 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_012143 commonName VAR_012143 VAR_012143 disease phenotype-associated VAR_012143 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_012144 commonName VAR_012144 VAR_012144 disease phenotype-associated VAR_012144 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_012145 commonName VAR_012145 VAR_012145 disease phenotype-associated VAR_012145 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_012146 commonName VAR_012146 VAR_012146 disease phenotype-associated VAR_012146 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_012147 commonName VAR_012147 VAR_012147 disease phenotype-associated VAR_012147 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_012148 commonName VAR_012148 VAR_012148 disease phenotype-associated VAR_012148 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_012149 commonName VAR_012149 VAR_012149 disease phenotype-associated VAR_012149 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_012150 commonName VAR_012150 VAR_012153 commonName VAR_012153 VAR_012153 disease phenotype-associated VAR_012153 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] VAR_012154 commonName VAR_012154 VAR_012154 disease phenotype-associated VAR_012154 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] VAR_012155 commonName VAR_012155 VAR_012155 disease phenotype-associated VAR_012155 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] VAR_012155 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] VAR_012155 phenoCommon Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] VAR_012156 commonName VAR_012156 VAR_012156 disease phenotype-associated VAR_012156 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640] VAR_012157 commonName VAR_012157 VAR_012157 disease not phenotype-associated VAR_012158 commonName VAR_012158 VAR_012158 disease not phenotype-associated VAR_012159 commonName VAR_012159 VAR_012159 disease not phenotype-associated VAR_012160 commonName VAR_012160 VAR_012160 disease phenotype-associated VAR_012160 phenoCommon Nephronophthisis type 1 (NPHP1) [MIM:256100] VAR_012161 commonName VAR_012161 VAR_012161 disease not phenotype-associated VAR_012162 commonName VAR_012162 VAR_012162 disease not phenotype-associated VAR_012164 commonName VAR_012164 VAR_012164 disease phenotype-associated VAR_012164 phenoCommon Cataract autosomal dominant multiple types 1 (ADC-MT1) [MIM:611597] VAR_012166 commonName VAR_012166 VAR_012166 disease not phenotype-associated VAR_012167 commonName VAR_012167 VAR_012167 disease not phenotype-associated VAR_012168 commonName VAR_012168 VAR_012168 disease not phenotype-associated VAR_012169 commonName VAR_012169 VAR_012169 disease phenotype-associated VAR_012169 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] VAR_012170 commonName VAR_012170 VAR_012170 disease not phenotype-associated VAR_012172 commonName VAR_012172 VAR_012172 disease not phenotype-associated VAR_012173 commonName VAR_012173 VAR_012173 disease not phenotype-associated VAR_012174 commonName VAR_012174 VAR_012174 disease phenotype-associated VAR_012174 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067] VAR_012175 commonName VAR_012175 VAR_012175 disease not phenotype-associated VAR_012176 commonName VAR_012176 VAR_012176 disease not phenotype-associated VAR_012177 commonName VAR_012177 VAR_012177 disease not phenotype-associated VAR_012178 commonName VAR_012178 VAR_012178 disease phenotype-associated VAR_012178 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067] VAR_012179 commonName VAR_012179 VAR_012179 disease not phenotype-associated VAR_012180 commonName VAR_012180 VAR_012180 disease not phenotype-associated VAR_012181 commonName VAR_012181 VAR_012181 disease not phenotype-associated VAR_012182 commonName VAR_012182 VAR_012182 disease phenotype-associated VAR_012182 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] VAR_012183 commonName VAR_012183 VAR_012183 disease phenotype-associated VAR_012183 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] VAR_012184 commonName VAR_012184 VAR_012184 disease not phenotype-associated VAR_012185 commonName VAR_012185 VAR_012185 disease not phenotype-associated VAR_012186 commonName VAR_012186 VAR_012186 disease not phenotype-associated VAR_012187 commonName VAR_012187 VAR_012187 disease phenotype-associated VAR_012187 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] VAR_012188 commonName VAR_012188 VAR_012188 disease phenotype-associated VAR_012188 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] VAR_012189 commonName VAR_012189 VAR_012189 disease phenotype-associated VAR_012189 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] VAR_012190 commonName VAR_012190 VAR_012190 disease not phenotype-associated VAR_012191 commonName VAR_012191 VAR_012191 disease not phenotype-associated VAR_012192 commonName VAR_012192 VAR_012192 disease phenotype-associated VAR_012192 phenoCommon Craniometaphyseal dysplasia Jackson type (CMDJ) [MIM:123000] VAR_012193 commonName VAR_012193 VAR_012193 disease phenotype-associated VAR_012193 phenoCommon Craniometaphyseal dysplasia Jackson type (CMDJ) [MIM:123000] VAR_012198 commonName VAR_012198 VAR_012198 disease phenotype-associated VAR_012198 phenoCommon Craniometaphyseal dysplasia Jackson type (CMDJ) [MIM:123000] VAR_012199 commonName VAR_012199 VAR_012200 commonName VAR_012200 VAR_012200 disease not phenotype-associated VAR_012201 commonName VAR_012201 VAR_012201 disease not phenotype-associated VAR_012202 commonName VAR_012202 VAR_012202 disease phenotype-associated VAR_012202 phenoCommon Limb-girdle muscular dystrophy type 2C (LGMD2C) [MIM:253700] VAR_012203 commonName VAR_012203 VAR_012203 disease not phenotype-associated VAR_012205 commonName VAR_012205 VAR_012205 disease not phenotype-associated VAR_012206 commonName VAR_012206 VAR_012206 disease not phenotype-associated VAR_012227 commonName VAR_012227 VAR_012227 disease not phenotype-associated VAR_012228 commonName VAR_012228 VAR_012228 disease not phenotype-associated VAR_012229 commonName VAR_012229 VAR_012229 disease not phenotype-associated VAR_012230 commonName VAR_012230 VAR_012230 disease not phenotype-associated VAR_012231 commonName VAR_012231 VAR_012231 disease not phenotype-associated VAR_012234 commonName VAR_012234 VAR_012234 disease not phenotype-associated VAR_012235 commonName VAR_012235 VAR_012236 commonName VAR_012236 VAR_012236 disease not phenotype-associated VAR_012237 commonName VAR_012237 VAR_012237 disease not phenotype-associated VAR_012238 commonName VAR_012238 VAR_012238 disease not phenotype-associated VAR_012239 commonName VAR_012239 VAR_012239 disease not phenotype-associated VAR_012240 commonName VAR_012240 VAR_012240 disease not phenotype-associated VAR_012241 commonName VAR_012241 VAR_012241 disease phenotype-associated VAR_012241 phenoCommon Usher syndrome type 3A (USH3A) [MIM:276902] VAR_012243 commonName VAR_012243 VAR_012243 disease phenotype-associated VAR_012243 phenoCommon Non-insulin-dependent diabetes mellitus (NIDDM) [MIM:125853] VAR_012244 commonName VAR_012244 VAR_012244 disease phenotype-associated VAR_012244 phenoCommon Sitosterolemia (STSL) [MIM:210250] VAR_012245 commonName VAR_012245 VAR_012245 disease phenotype-associated VAR_012245 phenoCommon Sitosterolemia (STSL) [MIM:210250] VAR_012246 commonName VAR_012246 VAR_012246 disease phenotype-associated VAR_012246 phenoCommon Sitosterolemia (STSL) [MIM:210250] VAR_012247 commonName VAR_012247 VAR_012247 disease phenotype-associated VAR_012247 phenoCommon Sitosterolemia (STSL) [MIM:210250] VAR_012248 commonName VAR_012248 VAR_012248 disease phenotype-associated VAR_012248 phenoCommon Sitosterolemia (STSL) [MIM:210250] VAR_012249 commonName VAR_012249 VAR_012249 disease not phenotype-associated VAR_012250 commonName VAR_012250 VAR_012250 disease not phenotype-associated VAR_012251 commonName VAR_012251 VAR_012251 disease not phenotype-associated VAR_012252 commonName VAR_012252 VAR_012252 disease phenotype-associated VAR_012252 phenoCommon Sitosterolemia (STSL) [MIM:210250] VAR_012253 commonName VAR_012253 VAR_012253 disease phenotype-associated VAR_012253 phenoCommon Sitosterolemia (STSL) [MIM:210250] VAR_012254 commonName VAR_012254 VAR_012254 disease not phenotype-associated VAR_012255 commonName VAR_012255 VAR_012255 disease not phenotype-associated VAR_012256 commonName VAR_012256 VAR_012256 disease phenotype-associated VAR_012256 phenoCommon Sitosterolemia (STSL) [MIM:210250] VAR_012257 commonName VAR_012257 VAR_012257 disease not phenotype-associated VAR_012258 commonName VAR_012258 VAR_012258 disease phenotype-associated VAR_012258 phenoCommon Sitosterolemia (STSL) [MIM:210250] VAR_012259 commonName VAR_012259 VAR_012259 disease phenotype-associated VAR_012259 phenoCommon Sitosterolemia (STSL) [MIM:210250] VAR_012260 commonName VAR_012260 VAR_012260 disease phenotype-associated VAR_012260 phenoCommon Sitosterolemia (STSL) [MIM:210250] VAR_012262 commonName VAR_012262 VAR_012262 disease phenotype-associated VAR_012262 phenoCommon Sitosterolemia (STSL) [MIM:210250] VAR_012263 commonName VAR_012263 VAR_012263 disease phenotype-associated VAR_012263 phenoCommon Sitosterolemia (STSL) [MIM:210250] VAR_012264 commonName VAR_012264 VAR_012264 disease phenotype-associated VAR_012264 phenoCommon Sitosterolemia (STSL) [MIM:210250] VAR_012265 commonName VAR_012265 VAR_012265 disease not phenotype-associated VAR_012266 commonName VAR_012266 VAR_012266 disease phenotype-associated VAR_012266 phenoCommon Sitosterolemia (STSL) [MIM:210250] VAR_012267 commonName VAR_012267 VAR_012267 disease not phenotype-associated VAR_012268 commonName VAR_012268 VAR_012268 disease phenotype-associated VAR_012268 phenoCommon Spherocytosis type 5 (SPH5) [MIM:612690] VAR_012269 commonName VAR_012269 VAR_012269 disease phenotype-associated VAR_012269 phenoCommon Glycogen storage disease type 9A (GSD9A) [MIM:306000] VAR_012271 commonName VAR_012271 VAR_012271 disease phenotype-associated VAR_012271 phenoCommon Glycogen storage disease type 9A (GSD9A) [MIM:306000] VAR_012272 commonName VAR_012272 VAR_012272 disease phenotype-associated VAR_012272 phenoCommon Glycogen storage disease type 9A (GSD9A) [MIM:306000] VAR_012273 commonName VAR_012273 VAR_012273 disease phenotype-associated VAR_012273 phenoCommon Glycogen storage disease type 9A (GSD9A) [MIM:306000] VAR_012276 commonName VAR_012276 VAR_012276 disease phenotype-associated VAR_012276 phenoCommon Glycogen storage disease type 9A (GSD9A) [MIM:306000] VAR_012277 commonName VAR_012277 VAR_012277 disease phenotype-associated VAR_012277 phenoCommon Glycogen storage disease type 9A (GSD9A) [MIM:306000] VAR_012279 commonName VAR_012279 VAR_012279 disease not phenotype-associated VAR_012280 commonName VAR_012280 VAR_012280 disease phenotype-associated VAR_012280 phenoCommon Deafness autosomal dominant type 39 with dentinogenesis imperfecta 1 (DFNA39/DGI1) [MIM:605594] VAR_012281 commonName VAR_012281 VAR_012281 disease phenotype-associated VAR_012281 phenoCommon Deafness autosomal dominant type 39 with dentinogenesis imperfecta 1 (DFNA39/DGI1) [MIM:605594] VAR_012281 phenoCommon Dentinogenesis imperfecta Shields type 3 (DGI3) [MIM:125500] VAR_012282 commonName VAR_012282 VAR_012282 disease not phenotype-associated VAR_012283 commonName VAR_012283 VAR_012283 disease phenotype-associated VAR_012283 phenoCommon Gilbert syndrome (GILBS) [MIM:143500] VAR_012284 commonName VAR_012284 VAR_012284 disease not phenotype-associated HbVar.675 ethnic Cypriot HbVar.675 phenoCommon Hemoglobin variant HbVar.676 protEffect HBD 118(G19) Asn>Asp HbVar.676 commonName Hb A2-Liangcheng HbVar.676 ethnic Chinese HbVar.676 phenoCommon Hemoglobin variant VAR_012285 commonName VAR_012285 VAR_012285 disease phenotype-associated VAR_012285 phenoCommon Cerebrotendinous xanthomatosis (CTX) [MIM:213700] VAR_012286 commonName VAR_012286 VAR_012286 disease phenotype-associated VAR_012286 phenoCommon Cerebrotendinous xanthomatosis (CTX) [MIM:213700] VAR_012287 commonName VAR_012287 VAR_012287 disease phenotype-associated VAR_012287 phenoCommon Cerebrotendinous xanthomatosis (CTX) [MIM:213700] VAR_012288 commonName VAR_012288 VAR_012288 disease phenotype-associated VAR_012288 phenoCommon Cerebrotendinous xanthomatosis (CTX) [MIM:213700] VAR_012289 commonName VAR_012289 VAR_012289 disease phenotype-associated VAR_012289 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_012290 commonName VAR_012290 VAR_012290 disease phenotype-associated VAR_012290 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_012291 commonName VAR_012291 VAR_012291 disease phenotype-associated VAR_012291 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_012292 commonName VAR_012292 VAR_012292 disease phenotype-associated VAR_012292 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_012293 commonName VAR_012293 VAR_012293 disease phenotype-associated VAR_012293 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_012295 commonName VAR_012295 VAR_012295 disease not phenotype-associated VAR_012296 commonName VAR_012296 VAR_012296 disease not phenotype-associated VAR_012297 commonName VAR_012297 VAR_012297 disease not phenotype-associated VAR_012298 commonName VAR_012298 VAR_012298 disease not phenotype-associated VAR_012299 commonName VAR_012299 VAR_012299 disease not phenotype-associated VAR_012300 commonName VAR_012300 VAR_012300 disease not phenotype-associated VAR_012301 commonName VAR_012301 VAR_012301 disease not phenotype-associated VAR_012302 commonName VAR_012302 VAR_012302 disease not phenotype-associated VAR_012303 commonName VAR_012303 VAR_012303 disease not phenotype-associated VAR_012304 commonName VAR_012304 VAR_012304 disease not phenotype-associated VAR_012305 commonName VAR_012305 VAR_012305 disease not phenotype-associated VAR_012306 commonName VAR_012306 VAR_012306 disease not phenotype-associated VAR_012307 commonName VAR_012307 VAR_012307 disease not phenotype-associated VAR_012308 commonName VAR_012308 VAR_012308 disease phenotype-associated VAR_012308 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] VAR_012308 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] VAR_012309 commonName VAR_012309 VAR_012309 disease phenotype-associated VAR_012309 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] VAR_012309 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] VAR_012310 commonName VAR_012310 VAR_012310 disease phenotype-associated VAR_012310 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] VAR_012311 commonName VAR_012311 VAR_012311 disease phenotype-associated VAR_012311 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] VAR_012311 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] VAR_012313 commonName VAR_012313 VAR_012313 disease phenotype-associated VAR_012313 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_012316 commonName VAR_012316 VAR_012316 disease phenotype-associated VAR_012316 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_012317 commonName VAR_012317 VAR_012317 disease phenotype-associated VAR_012317 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_012318 commonName VAR_012318 VAR_012318 disease not phenotype-associated VAR_012321 commonName VAR_012321 VAR_012321 disease phenotype-associated VAR_012321 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_012322 commonName VAR_012322 VAR_012322 disease phenotype-associated VAR_012322 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_012323 commonName VAR_012323 VAR_012323 disease phenotype-associated VAR_012323 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_012324 commonName VAR_012324 VAR_012324 disease phenotype-associated VAR_012324 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_012325 commonName VAR_012325 VAR_012325 disease phenotype-associated VAR_012325 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_012326 commonName VAR_012326 VAR_012326 disease phenotype-associated VAR_012326 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_012327 commonName VAR_012327 VAR_012327 disease phenotype-associated VAR_012327 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_012328 commonName VAR_012328 VAR_012328 disease phenotype-associated VAR_012328 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_012329 commonName VAR_012329 VAR_012329 disease phenotype-associated VAR_012329 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_012330 commonName VAR_012330 VAR_012330 disease phenotype-associated VAR_012330 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_012331 commonName VAR_012331 VAR_012331 disease phenotype-associated VAR_012331 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_012334 commonName VAR_012334 VAR_012334 disease phenotype-associated VAR_012334 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751] VAR_012335 commonName VAR_012335 VAR_012335 disease phenotype-associated VAR_012335 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751] VAR_012336 commonName VAR_012336 VAR_012336 disease phenotype-associated VAR_012336 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751] VAR_012337 commonName VAR_012337 VAR_012337 disease phenotype-associated VAR_012337 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751] VAR_012338 commonName VAR_012338 VAR_012338 disease phenotype-associated VAR_012338 phenoCommon Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579] VAR_012339 commonName VAR_012339 VAR_012339 disease phenotype-associated VAR_012339 phenoCommon Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579] VAR_012340 commonName VAR_012340 VAR_012340 disease phenotype-associated VAR_012340 phenoCommon Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579] VAR_012341 commonName VAR_012341 VAR_012341 disease phenotype-associated VAR_012341 phenoCommon Congenital disorder of glycosylation type 1E (CDG1E) [MIM:608799] VAR_012342 commonName VAR_012342 VAR_012342 disease not phenotype-associated VAR_012343 commonName VAR_012343 VAR_012343 disease phenotype-associated VAR_012343 phenoCommon Congenital disorder of glycosylation type 2A (CDG2A) [MIM:212066] VAR_012344 commonName VAR_012344 VAR_012344 disease phenotype-associated VAR_012344 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_012345 commonName VAR_012345 VAR_012345 disease phenotype-associated VAR_012345 phenoCommon Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579] VAR_012346 commonName VAR_012346 VAR_012346 disease phenotype-associated VAR_012346 phenoCommon Leri-Weill dyschondrosteosis (LWD) [MIM:127300] VAR_012347 commonName VAR_012347 VAR_012347 disease phenotype-associated VAR_012347 phenoCommon Congenital disorder of glycosylation type 2C (CDG2C) [MIM:266265] VAR_012348 commonName VAR_012348 VAR_012348 disease phenotype-associated VAR_012348 phenoCommon Congenital disorder of glycosylation type 2C (CDG2C) [MIM:266265] VAR_012349 commonName VAR_012349 VAR_012349 disease not phenotype-associated VAR_012350 commonName VAR_012350 VAR_012350 disease phenotype-associated VAR_012350 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_012351 commonName VAR_012351 VAR_012351 disease phenotype-associated VAR_012351 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_012352 commonName VAR_012352 VAR_012352 disease phenotype-associated VAR_012352 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_012353 commonName VAR_012353 VAR_012353 disease phenotype-associated VAR_012353 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_012354 commonName VAR_012354 VAR_012354 disease phenotype-associated VAR_012354 phenoCommon Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851] VAR_012355 commonName VAR_012355 VAR_012355 disease not phenotype-associated VAR_012357 commonName VAR_012357 VAR_012357 disease not phenotype-associated VAR_012358 commonName VAR_012358 VAR_012358 disease phenotype-associated VAR_012358 phenoCommon Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400] VAR_012359 commonName VAR_012359 VAR_012359 disease phenotype-associated VAR_012359 phenoCommon Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400] VAR_012360 commonName VAR_012360 VAR_012360 disease phenotype-associated VAR_012360 phenoCommon Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400] VAR_012361 commonName VAR_012361 VAR_012361 disease phenotype-associated VAR_012361 phenoCommon Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400] VAR_012362 commonName VAR_012362 VAR_012362 disease phenotype-associated VAR_012362 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012363 commonName VAR_012363 VAR_012363 disease phenotype-associated VAR_012363 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012364 commonName VAR_012364 VAR_012364 disease phenotype-associated VAR_012364 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012365 commonName VAR_012365 VAR_012365 disease phenotype-associated VAR_012365 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012367 commonName VAR_012367 VAR_012367 disease phenotype-associated VAR_012367 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012368 commonName VAR_012368 VAR_012368 disease phenotype-associated VAR_012368 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012369 commonName VAR_012369 VAR_012369 disease phenotype-associated VAR_012369 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012370 commonName VAR_012370 VAR_012370 disease phenotype-associated VAR_012370 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012371 commonName VAR_012371 VAR_012371 disease phenotype-associated VAR_012371 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012372 commonName VAR_012372 VAR_012372 disease phenotype-associated VAR_012372 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012373 commonName VAR_012373 VAR_012373 disease phenotype-associated VAR_012373 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012374 commonName VAR_012374 VAR_012374 disease phenotype-associated VAR_012374 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012375 commonName VAR_012375 VAR_012375 disease phenotype-associated VAR_012375 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012376 commonName VAR_012376 VAR_012376 disease phenotype-associated VAR_012376 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012377 commonName VAR_012377 VAR_012377 disease phenotype-associated VAR_012377 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012378 commonName VAR_012378 VAR_012378 disease phenotype-associated VAR_012378 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012379 commonName VAR_012379 VAR_012379 disease phenotype-associated VAR_012379 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012380 commonName VAR_012380 VAR_012380 disease phenotype-associated VAR_012380 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012381 commonName VAR_012381 VAR_012381 disease phenotype-associated VAR_012381 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012382 commonName VAR_012382 VAR_012382 disease phenotype-associated VAR_012382 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012383 commonName VAR_012383 VAR_012383 disease phenotype-associated VAR_012383 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012384 commonName VAR_012384 VAR_012384 disease phenotype-associated VAR_012384 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012385 commonName VAR_012385 VAR_012385 disease phenotype-associated VAR_012385 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012386 commonName VAR_012386 VAR_012386 disease phenotype-associated VAR_012386 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012387 commonName VAR_012387 VAR_012387 disease phenotype-associated VAR_012387 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012388 commonName VAR_012388 VAR_012388 disease phenotype-associated VAR_012388 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012389 commonName VAR_012389 VAR_012389 disease phenotype-associated VAR_012389 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012390 commonName VAR_012390 VAR_012390 disease phenotype-associated VAR_012390 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012391 commonName VAR_012391 VAR_012391 disease phenotype-associated VAR_012391 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012392 commonName VAR_012392 VAR_012392 disease phenotype-associated VAR_012392 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012393 commonName VAR_012393 VAR_012393 disease phenotype-associated VAR_012393 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012394 commonName VAR_012394 VAR_012394 disease phenotype-associated VAR_012394 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012395 commonName VAR_012395 VAR_012395 disease phenotype-associated VAR_012395 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012396 commonName VAR_012396 VAR_012396 disease phenotype-associated VAR_012396 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012397 commonName VAR_012397 VAR_012397 disease phenotype-associated VAR_012397 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012398 commonName VAR_012398 VAR_012398 disease phenotype-associated VAR_012398 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012400 commonName VAR_012400 VAR_012400 disease phenotype-associated VAR_012400 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012401 commonName VAR_012401 VAR_012401 disease phenotype-associated VAR_012401 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012402 commonName VAR_012402 VAR_012402 disease phenotype-associated VAR_012402 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012403 commonName VAR_012403 VAR_012403 disease phenotype-associated VAR_012403 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012404 commonName VAR_012404 VAR_012404 disease phenotype-associated VAR_012404 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012405 commonName VAR_012405 VAR_012405 disease phenotype-associated VAR_012405 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012406 commonName VAR_012406 VAR_012406 disease phenotype-associated VAR_012406 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012407 commonName VAR_012407 VAR_012407 disease phenotype-associated VAR_012407 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012408 commonName VAR_012408 VAR_012408 disease phenotype-associated VAR_012408 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012409 commonName VAR_012409 VAR_012409 disease phenotype-associated VAR_012409 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012410 commonName VAR_012410 VAR_012410 disease phenotype-associated VAR_012410 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012411 commonName VAR_012411 VAR_012411 disease phenotype-associated VAR_012411 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012412 commonName VAR_012412 VAR_012412 disease phenotype-associated VAR_012412 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012413 commonName VAR_012413 VAR_012413 disease phenotype-associated VAR_012413 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012414 commonName VAR_012414 VAR_012414 disease phenotype-associated VAR_012414 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012415 commonName VAR_012415 VAR_012415 disease phenotype-associated VAR_012415 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012416 commonName VAR_012416 VAR_012416 disease phenotype-associated VAR_012416 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012418 commonName VAR_012418 VAR_012418 disease phenotype-associated VAR_012418 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012419 commonName VAR_012419 VAR_012419 disease phenotype-associated VAR_012419 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012420 commonName VAR_012420 VAR_012420 disease phenotype-associated VAR_012420 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012421 commonName VAR_012421 VAR_012421 disease phenotype-associated VAR_012421 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012422 commonName VAR_012422 VAR_012422 disease phenotype-associated VAR_012422 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012423 commonName VAR_012423 VAR_012423 disease phenotype-associated VAR_012423 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012424 commonName VAR_012424 VAR_012424 disease phenotype-associated VAR_012424 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012425 commonName VAR_012425 VAR_012425 disease phenotype-associated VAR_012425 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012426 commonName VAR_012426 VAR_012426 disease phenotype-associated VAR_012426 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012427 commonName VAR_012427 VAR_012427 disease phenotype-associated VAR_012427 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012430 commonName VAR_012430 VAR_012430 disease phenotype-associated VAR_012430 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012431 commonName VAR_012431 VAR_012431 disease phenotype-associated VAR_012431 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012432 commonName VAR_012432 VAR_012432 disease phenotype-associated VAR_012432 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012433 commonName VAR_012433 VAR_012433 disease phenotype-associated VAR_012433 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012434 commonName VAR_012434 VAR_012434 disease phenotype-associated VAR_012434 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012435 commonName VAR_012435 VAR_012435 disease phenotype-associated VAR_012435 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012436 commonName VAR_012436 VAR_012436 disease phenotype-associated VAR_012436 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012437 commonName VAR_012437 VAR_012437 disease phenotype-associated VAR_012437 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012438 commonName VAR_012438 VAR_012438 disease phenotype-associated VAR_012438 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012439 commonName VAR_012439 VAR_012439 disease phenotype-associated VAR_012439 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012440 commonName VAR_012440 VAR_012440 disease phenotype-associated VAR_012440 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012441 commonName VAR_012441 VAR_012441 disease phenotype-associated VAR_012441 phenoCommon Fabry disease (FD) [MIM:301500] VAR_012443 commonName VAR_012443 VAR_012443 disease not phenotype-associated VAR_012444 commonName VAR_012444 VAR_012444 disease phenotype-associated VAR_012444 phenoCommon Corneal dystrophy Groenouw type 1 (CDGG1) [MIM:121900] VAR_012451 commonName VAR_012451 VAR_012451 disease not phenotype-associated VAR_012452 commonName VAR_012452 VAR_012452 disease not phenotype-associated VAR_012453 commonName VAR_012453 VAR_012453 disease phenotype-associated VAR_012453 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_012454 commonName VAR_012454 VAR_012454 disease phenotype-associated VAR_012454 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_012455 commonName VAR_012455 VAR_012455 disease phenotype-associated VAR_012455 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_012456 commonName VAR_012456 VAR_012456 disease phenotype-associated VAR_012456 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_012457 commonName VAR_012457 VAR_012458 commonName VAR_012458 VAR_012458 disease not phenotype-associated VAR_012460 commonName VAR_012460 VAR_012460 disease not phenotype-associated VAR_012462 commonName VAR_012462 VAR_012462 disease phenotype-associated VAR_012462 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_012463 commonName VAR_012463 VAR_012464 commonName VAR_012464 VAR_012464 disease phenotype-associated VAR_012464 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_012465 commonName VAR_012465 VAR_012465 disease not phenotype-associated VAR_012467 commonName VAR_012467 VAR_012467 disease phenotype-associated VAR_012467 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_012468 commonName VAR_012468 VAR_012468 disease phenotype-associated VAR_012468 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_012469 commonName VAR_012469 VAR_012469 disease phenotype-associated VAR_012469 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_012470 commonName VAR_012470 VAR_012470 disease not phenotype-associated VAR_012471 commonName VAR_012471 VAR_012471 disease phenotype-associated VAR_012471 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_012476 commonName VAR_012476 VAR_012476 disease phenotype-associated VAR_012476 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 1 (CGD1) [MIM:233700] VAR_012477 commonName VAR_012477 VAR_012477 disease not phenotype-associated VAR_012478 commonName VAR_012478 VAR_012478 disease not phenotype-associated VAR_012479 commonName VAR_012479 VAR_012479 disease not phenotype-associated VAR_012480 commonName VAR_012480 VAR_012480 disease not phenotype-associated VAR_012481 commonName VAR_012481 VAR_012482 commonName VAR_012482 VAR_012482 disease not phenotype-associated VAR_012483 commonName VAR_012483 VAR_012483 disease phenotype-associated VAR_012483 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] VAR_012484 commonName VAR_012484 VAR_012484 disease phenotype-associated VAR_012484 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] VAR_012485 commonName VAR_012485 VAR_012485 disease phenotype-associated VAR_012485 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] VAR_012487 commonName VAR_012487 VAR_012487 disease phenotype-associated VAR_012487 phenoCommon Maturity-onset diabetes of the young type 6 (MODY6) [MIM:606394] VAR_012488 commonName VAR_012488 VAR_012488 disease not phenotype-associated VAR_012489 commonName VAR_012489 VAR_012489 disease not phenotype-associated VAR_012490 commonName VAR_012490 VAR_012490 disease not phenotype-associated VAR_012491 commonName VAR_012491 VAR_012491 disease not phenotype-associated VAR_012492 commonName VAR_012492 VAR_012492 disease not phenotype-associated VAR_012493 commonName VAR_012493 VAR_012493 disease phenotype-associated VAR_012493 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200] VAR_012495 commonName VAR_012495 VAR_012495 disease phenotype-associated VAR_012495 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012496 commonName VAR_012496 VAR_012496 disease phenotype-associated VAR_012496 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012497 commonName VAR_012497 VAR_012497 disease phenotype-associated VAR_012497 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012498 commonName VAR_012498 VAR_012498 disease phenotype-associated VAR_012498 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012499 commonName VAR_012499 VAR_012499 disease phenotype-associated VAR_012499 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012500 commonName VAR_012500 VAR_012500 disease phenotype-associated VAR_012500 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012501 commonName VAR_012501 VAR_012501 disease phenotype-associated VAR_012501 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012502 commonName VAR_012502 VAR_012502 disease phenotype-associated VAR_012502 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012503 commonName VAR_012503 VAR_012503 disease not phenotype-associated VAR_012504 commonName VAR_012504 VAR_012504 disease phenotype-associated VAR_012504 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012505 commonName VAR_012505 VAR_012505 disease phenotype-associated VAR_012505 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012506 commonName VAR_012506 VAR_012506 disease phenotype-associated VAR_012506 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012507 commonName VAR_012507 VAR_012507 disease not phenotype-associated VAR_012508 commonName VAR_012508 VAR_012508 disease phenotype-associated VAR_012508 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012509 commonName VAR_012509 VAR_012509 disease phenotype-associated VAR_012509 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012510 commonName VAR_012510 VAR_012510 disease phenotype-associated VAR_012510 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012511 commonName VAR_012511 VAR_012511 disease phenotype-associated VAR_012511 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012512 commonName VAR_012512 VAR_012512 disease phenotype-associated VAR_012512 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012513 commonName VAR_012513 VAR_012513 disease phenotype-associated VAR_012513 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012514 commonName VAR_012514 VAR_012514 disease phenotype-associated VAR_012514 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012515 commonName VAR_012515 VAR_012515 disease phenotype-associated VAR_012515 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200] VAR_012516 commonName VAR_012516 VAR_012516 disease phenotype-associated VAR_012516 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012517 commonName VAR_012517 VAR_012517 disease not phenotype-associated VAR_012518 commonName VAR_012518 VAR_012518 disease phenotype-associated VAR_012518 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012519 commonName VAR_012519 VAR_012519 disease phenotype-associated VAR_012519 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012520 commonName VAR_012520 VAR_012520 disease phenotype-associated VAR_012520 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012521 commonName VAR_012521 VAR_012521 disease phenotype-associated VAR_012521 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012522 commonName VAR_012522 VAR_012522 disease not phenotype-associated VAR_012523 commonName VAR_012523 VAR_012523 disease phenotype-associated VAR_012523 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012524 commonName VAR_012524 VAR_012524 disease phenotype-associated VAR_012524 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012525 commonName VAR_012525 VAR_012525 disease phenotype-associated VAR_012525 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012526 commonName VAR_012526 VAR_012526 disease phenotype-associated VAR_012526 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012527 commonName VAR_012527 VAR_012527 disease phenotype-associated VAR_012527 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012528 commonName VAR_012528 VAR_012528 disease phenotype-associated VAR_012528 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012529 commonName VAR_012529 VAR_012529 disease phenotype-associated VAR_012529 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012530 commonName VAR_012530 VAR_012530 disease phenotype-associated VAR_012530 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012531 commonName VAR_012531 VAR_012531 disease phenotype-associated VAR_012531 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012532 commonName VAR_012532 VAR_012532 disease phenotype-associated VAR_012532 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012533 commonName VAR_012533 VAR_012533 disease phenotype-associated VAR_012533 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012534 commonName VAR_012534 VAR_012534 disease phenotype-associated VAR_012534 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012535 commonName VAR_012535 VAR_012535 disease phenotype-associated VAR_012535 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012536 commonName VAR_012536 VAR_012536 disease phenotype-associated VAR_012536 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012537 commonName VAR_012537 VAR_012537 disease phenotype-associated VAR_012537 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012538 commonName VAR_012538 VAR_012538 disease phenotype-associated VAR_012538 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012539 commonName VAR_012539 VAR_012539 disease phenotype-associated VAR_012539 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012541 commonName VAR_012541 VAR_012541 disease phenotype-associated VAR_012541 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012542 commonName VAR_012542 VAR_012542 disease phenotype-associated VAR_012542 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012543 commonName VAR_012543 VAR_012543 disease not phenotype-associated VAR_012544 commonName VAR_012544 VAR_012544 disease phenotype-associated VAR_012544 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012545 commonName VAR_012545 VAR_012545 disease phenotype-associated VAR_012545 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200] VAR_012545 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012546 commonName VAR_012546 VAR_012546 disease phenotype-associated VAR_012546 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012547 commonName VAR_012547 VAR_012547 disease phenotype-associated VAR_012547 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012548 commonName VAR_012548 VAR_012548 disease phenotype-associated VAR_012548 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012549 commonName VAR_012549 VAR_012549 disease phenotype-associated VAR_012549 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012550 commonName VAR_012550 VAR_012550 disease phenotype-associated VAR_012550 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012551 commonName VAR_012551 VAR_012551 disease phenotype-associated VAR_012551 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200] VAR_012552 commonName VAR_012552 VAR_012552 disease phenotype-associated VAR_012552 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012553 commonName VAR_012553 VAR_012553 disease phenotype-associated VAR_012553 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012554 commonName VAR_012554 VAR_012554 disease phenotype-associated VAR_012554 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012555 commonName VAR_012555 VAR_012555 disease phenotype-associated VAR_012555 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012556 commonName VAR_012556 VAR_012556 disease phenotype-associated VAR_012556 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012557 commonName VAR_012557 VAR_012557 disease phenotype-associated VAR_012557 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012558 commonName VAR_012558 VAR_012558 disease phenotype-associated VAR_012558 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012559 commonName VAR_012559 VAR_012559 disease phenotype-associated VAR_012559 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012560 commonName VAR_012560 VAR_012560 disease phenotype-associated VAR_012560 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200] VAR_012561 commonName VAR_012561 VAR_012561 disease phenotype-associated VAR_012561 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012562 commonName VAR_012562 VAR_012562 disease phenotype-associated VAR_012562 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200] VAR_012562 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012563 commonName VAR_012563 VAR_012563 disease phenotype-associated VAR_012563 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012564 commonName VAR_012564 VAR_012564 disease phenotype-associated VAR_012564 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012565 commonName VAR_012565 VAR_012565 disease phenotype-associated VAR_012565 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012566 commonName VAR_012566 VAR_012566 disease not phenotype-associated VAR_012567 commonName VAR_012567 VAR_012567 disease phenotype-associated VAR_012567 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012568 commonName VAR_012568 VAR_012568 disease phenotype-associated VAR_012568 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200] VAR_012569 commonName VAR_012569 VAR_012569 disease phenotype-associated VAR_012569 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012570 commonName VAR_012570 VAR_012570 disease phenotype-associated VAR_012570 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012571 commonName VAR_012571 VAR_012571 disease phenotype-associated VAR_012571 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012572 commonName VAR_012572 VAR_012572 disease phenotype-associated VAR_012572 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012573 commonName VAR_012573 VAR_012573 disease phenotype-associated VAR_012573 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012574 commonName VAR_012574 VAR_012574 disease phenotype-associated VAR_012574 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012575 commonName VAR_012575 VAR_012575 disease phenotype-associated VAR_012575 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012576 commonName VAR_012576 VAR_012576 disease phenotype-associated VAR_012576 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012577 commonName VAR_012577 VAR_012577 disease phenotype-associated VAR_012577 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200] VAR_012578 commonName VAR_012578 VAR_012578 disease phenotype-associated VAR_012578 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012579 commonName VAR_012579 VAR_012579 disease phenotype-associated VAR_012579 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012580 commonName VAR_012580 HbVar.677 protEffect HBD 122(GH4) Glu>Val VAR_012580 disease phenotype-associated VAR_012580 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012581 commonName VAR_012581 VAR_012581 disease phenotype-associated VAR_012581 phenoCommon Cone-rod dystrophy type 3 (CORD3) [MIM:604116] VAR_012582 commonName VAR_012582 VAR_012582 disease not phenotype-associated VAR_012583 commonName VAR_012583 VAR_012583 disease phenotype-associated VAR_012583 phenoCommon Cone-rod dystrophy type 3 (CORD3) [MIM:604116] VAR_012583 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200] VAR_012583 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012585 commonName VAR_012585 VAR_012585 disease phenotype-associated VAR_012585 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012586 commonName VAR_012586 VAR_012586 disease phenotype-associated VAR_012586 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012587 commonName VAR_012587 VAR_012587 disease phenotype-associated VAR_012587 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012588 commonName VAR_012588 VAR_012588 disease phenotype-associated VAR_012588 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012589 commonName VAR_012589 VAR_012589 disease phenotype-associated VAR_012589 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012590 commonName VAR_012590 VAR_012590 disease phenotype-associated VAR_012590 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012592 commonName VAR_012592 VAR_012592 disease phenotype-associated VAR_012592 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012593 commonName VAR_012593 VAR_012593 disease phenotype-associated VAR_012593 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012594 commonName VAR_012594 VAR_012594 disease phenotype-associated VAR_012594 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012595 commonName VAR_012595 VAR_012595 disease phenotype-associated VAR_012595 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012596 commonName VAR_012596 VAR_012596 disease phenotype-associated VAR_012596 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012597 commonName VAR_012597 VAR_012597 disease not phenotype-associated VAR_012598 commonName VAR_012598 VAR_012598 disease phenotype-associated VAR_012598 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012599 commonName VAR_012599 VAR_012599 disease phenotype-associated VAR_012599 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012600 commonName VAR_012600 VAR_012600 disease phenotype-associated VAR_012600 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012601 commonName VAR_012601 VAR_012601 disease not phenotype-associated VAR_012602 commonName VAR_012602 VAR_012602 disease phenotype-associated VAR_012602 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200] VAR_012602 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012603 commonName VAR_012603 VAR_012603 disease phenotype-associated VAR_012603 phenoCommon Fundus flavimaculatus (FFM) [MIM:248200] VAR_012604 commonName VAR_012604 VAR_012604 disease phenotype-associated VAR_012604 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012605 commonName VAR_012605 VAR_012605 disease phenotype-associated VAR_012605 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012606 commonName VAR_012606 VAR_012606 disease not phenotype-associated VAR_012607 commonName VAR_012607 VAR_012607 disease phenotype-associated VAR_012607 phenoCommon Cone-rod dystrophy type 3 (CORD3) [MIM:604116] VAR_012608 commonName VAR_012608 VAR_012608 disease phenotype-associated VAR_012608 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012609 commonName VAR_012609 VAR_012609 disease phenotype-associated VAR_012609 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012610 commonName VAR_012610 VAR_012610 disease phenotype-associated VAR_012610 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012611 commonName VAR_012611 VAR_012611 disease phenotype-associated VAR_012611 phenoCommon Cone-rod dystrophy type 3 (CORD3) [MIM:604116] VAR_012612 commonName VAR_012612 VAR_012612 disease phenotype-associated VAR_012612 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012613 commonName VAR_012613 VAR_012613 disease phenotype-associated VAR_012613 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012614 commonName VAR_012614 VAR_012614 disease not phenotype-associated VAR_012615 commonName VAR_012615 VAR_012615 disease phenotype-associated VAR_012615 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012616 commonName VAR_012616 VAR_012616 disease phenotype-associated VAR_012616 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012617 commonName VAR_012617 VAR_012617 disease phenotype-associated VAR_012617 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_012618 commonName VAR_012618 VAR_012618 disease not phenotype-associated VAR_012619 commonName VAR_012619 VAR_012619 disease phenotype-associated VAR_012619 phenoCommon High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091] VAR_012620 commonName VAR_012620 VAR_012620 disease phenotype-associated VAR_012620 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] VAR_012621 commonName VAR_012621 VAR_012621 disease not phenotype-associated VAR_012622 commonName VAR_012622 VAR_012622 disease not phenotype-associated VAR_012623 commonName VAR_012623 VAR_012624 commonName VAR_012624 VAR_012624 disease not phenotype-associated VAR_012625 commonName VAR_012625 VAR_012625 disease not phenotype-associated VAR_012626 commonName VAR_012626 VAR_012626 disease phenotype-associated VAR_012626 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] VAR_012627 commonName VAR_012627 VAR_012627 disease phenotype-associated VAR_012627 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] VAR_012628 commonName VAR_012628 VAR_012628 disease phenotype-associated VAR_012628 phenoCommon High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091] VAR_012629 commonName VAR_012629 VAR_012629 disease not phenotype-associated VAR_012630 commonName VAR_012630 VAR_012630 disease phenotype-associated VAR_012630 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] VAR_012631 commonName VAR_012631 VAR_012631 disease not phenotype-associated VAR_012632 commonName VAR_012632 VAR_012633 commonName VAR_012633 VAR_012633 disease not phenotype-associated VAR_012635 commonName VAR_012635 VAR_012635 disease phenotype-associated VAR_012635 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] VAR_012636 commonName VAR_012636 VAR_012636 disease phenotype-associated VAR_012636 phenoCommon High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091] VAR_012637 commonName VAR_012637 VAR_012637 disease not phenotype-associated VAR_012638 commonName VAR_012638 VAR_012638 disease not phenotype-associated VAR_012639 commonName VAR_012639 VAR_012639 disease not phenotype-associated VAR_012640 commonName VAR_012640 VAR_012640 disease phenotype-associated VAR_012640 phenoCommon X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310] VAR_012642 commonName VAR_012642 VAR_012642 disease not phenotype-associated VAR_012643 commonName VAR_012643 VAR_012643 disease phenotype-associated VAR_012643 phenoCommon Complement component 7 deficiency (C7D) [MIM:610102] VAR_012644 commonName VAR_012644 VAR_012644 disease phenotype-associated VAR_012644 phenoCommon Complement component 7 deficiency (C7D) [MIM:610102] VAR_012645 commonName VAR_012645 VAR_012645 disease phenotype-associated VAR_012645 phenoCommon Complement component 7 deficiency (C7D) [MIM:610102] VAR_012646 commonName VAR_012646 VAR_012646 disease phenotype-associated VAR_012646 phenoCommon Complement component 7 deficiency (C7D) [MIM:610102] VAR_012647 commonName VAR_012647 VAR_012647 disease phenotype-associated VAR_012647 phenoCommon Complement component 7 deficiency (C7D) [MIM:610102] VAR_012648 commonName VAR_012648 VAR_012648 disease phenotype-associated VAR_012648 phenoCommon Complement component 9 deficiency (C9D) [MIM:613825] VAR_012649 commonName VAR_012649 VAR_012649 disease phenotype-associated VAR_012649 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] VAR_012651 commonName VAR_012651 VAR_012651 disease phenotype-associated VAR_012651 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_012652 commonName VAR_012652 VAR_012652 disease phenotype-associated VAR_012652 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_012653 commonName VAR_012653 VAR_012653 disease phenotype-associated VAR_012653 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_012654 commonName VAR_012654 VAR_012654 disease phenotype-associated VAR_012654 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_012655 commonName VAR_012655 VAR_012655 disease phenotype-associated VAR_012655 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_012656 commonName VAR_012656 VAR_012656 disease not phenotype-associated VAR_012657 commonName VAR_012657 VAR_012657 disease phenotype-associated VAR_012657 phenoCommon Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] VAR_012658 commonName VAR_012658 VAR_012658 disease phenotype-associated VAR_012658 phenoCommon Intervertebral disc disease (IDD) [MIM:603932] VAR_012659 commonName VAR_012659 VAR_012659 disease not phenotype-associated VAR_012662 commonName VAR_012662 VAR_012663 commonName VAR_012663 VAR_012664 commonName VAR_012664 VAR_012665 commonName VAR_012665 VAR_012665 disease not phenotype-associated VAR_012666 commonName VAR_012666 VAR_012667 commonName VAR_012667 VAR_012667 disease not phenotype-associated VAR_012668 commonName VAR_012668 VAR_012669 commonName VAR_012669 VAR_012670 commonName VAR_012670 VAR_012670 disease not phenotype-associated VAR_012671 commonName VAR_012671 VAR_012671 disease not phenotype-associated VAR_012672 commonName VAR_012672 VAR_012673 commonName VAR_012673 VAR_012674 commonName VAR_012674 VAR_012675 commonName VAR_012675 VAR_012676 commonName VAR_012676 VAR_012676 disease phenotype-associated VAR_012676 phenoCommon Blau syndrome (BS) [MIM:186580] VAR_012677 commonName VAR_012677 VAR_012677 disease phenotype-associated VAR_012677 phenoCommon Blau syndrome (BS) [MIM:186580] VAR_012678 commonName VAR_012678 VAR_012679 commonName VAR_012679 VAR_012679 disease not phenotype-associated VAR_012680 commonName VAR_012680 VAR_012681 commonName VAR_012681 VAR_012682 commonName VAR_012682 VAR_012683 commonName VAR_012683 VAR_012683 disease not phenotype-associated VAR_012684 commonName VAR_012684 VAR_012685 commonName VAR_012685 VAR_012685 disease phenotype-associated VAR_012685 phenoCommon Blau syndrome (BS) [MIM:186580] VAR_012686 commonName VAR_012686 VAR_012686 disease phenotype-associated VAR_012686 phenoCommon Sarcoidosis early-onset (EOS) [MIM:609464] VAR_012687 commonName VAR_012687 VAR_012688 commonName VAR_012688 VAR_012688 disease not phenotype-associated VAR_012689 commonName VAR_012689 VAR_012689 disease not phenotype-associated VAR_012690 commonName VAR_012690 VAR_012690 disease not phenotype-associated VAR_012691 commonName VAR_012691 VAR_012692 commonName VAR_012692 VAR_012692 disease not phenotype-associated VAR_012693 commonName VAR_012693 VAR_012694 commonName VAR_012694 VAR_012695 commonName VAR_012695 VAR_012696 commonName VAR_012696 VAR_012706 commonName VAR_012706 VAR_012706 disease phenotype-associated VAR_012706 phenoCommon X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367] VAR_012707 commonName VAR_012707 VAR_012707 disease phenotype-associated VAR_012707 phenoCommon X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367] VAR_012708 commonName VAR_012708 VAR_012708 disease not phenotype-associated VAR_012710 commonName VAR_012710 VAR_012710 disease phenotype-associated VAR_012710 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000] VAR_012711 commonName VAR_012711 VAR_012711 disease phenotype-associated VAR_012711 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000] VAR_012712 commonName VAR_012712 VAR_012712 disease phenotype-associated VAR_012712 phenoCommon Pancreatitis (PCTT) [MIM:167800] VAR_012713 commonName VAR_012713 VAR_012713 disease phenotype-associated VAR_012713 phenoCommon Pancreatitis (PCTT) [MIM:167800] VAR_012714 commonName VAR_012714 VAR_012714 disease phenotype-associated VAR_012714 phenoCommon Nocturnal frontal lobe epilepsy type 3 (ENFL3) [MIM:605375] VAR_012715 commonName VAR_012715 VAR_012715 disease phenotype-associated VAR_012715 phenoCommon Nocturnal frontal lobe epilepsy type 3 (ENFL3) [MIM:605375] VAR_012716 commonName VAR_012716 VAR_012716 disease not phenotype-associated VAR_012717 commonName VAR_012717 VAR_012717 disease phenotype-associated VAR_012717 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_012718 commonName VAR_012718 VAR_012718 disease phenotype-associated VAR_012718 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_012719 commonName VAR_012719 VAR_012719 disease phenotype-associated VAR_012719 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_012720 commonName VAR_012720 VAR_012720 disease phenotype-associated VAR_012720 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_012721 commonName VAR_012721 VAR_012721 disease phenotype-associated VAR_012721 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_012722 commonName VAR_012722 VAR_012722 disease phenotype-associated VAR_012722 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_012723 commonName VAR_012723 VAR_012723 disease phenotype-associated VAR_012723 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_012724 commonName VAR_012724 VAR_012724 disease phenotype-associated VAR_012724 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_012725 commonName VAR_012725 VAR_012725 disease phenotype-associated VAR_012725 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_012726 commonName VAR_012726 VAR_012726 disease phenotype-associated VAR_012726 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_012727 commonName VAR_012727 VAR_012727 disease phenotype-associated VAR_012727 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_012728 commonName VAR_012728 VAR_012728 disease phenotype-associated VAR_012728 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_012729 commonName VAR_012729 VAR_012729 disease phenotype-associated VAR_012729 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_012730 commonName VAR_012730 VAR_012730 disease phenotype-associated VAR_012730 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_012731 commonName VAR_012731 VAR_012731 disease not phenotype-associated VAR_012732 commonName VAR_012732 VAR_012732 disease phenotype-associated VAR_012732 phenoCommon Desmosterolosis (DESMOS) [MIM:602398] VAR_012733 commonName VAR_012733 VAR_012733 disease phenotype-associated VAR_012733 phenoCommon Desmosterolosis (DESMOS) [MIM:602398] VAR_012734 commonName VAR_012734 VAR_012734 disease phenotype-associated VAR_012734 phenoCommon Desmosterolosis (DESMOS) [MIM:602398] VAR_012735 commonName VAR_012735 VAR_012735 disease phenotype-associated VAR_012735 phenoCommon Desmosterolosis (DESMOS) [MIM:602398] VAR_012737 commonName VAR_012737 VAR_012737 disease not phenotype-associated VAR_012738 commonName VAR_012738 VAR_012738 disease phenotype-associated VAR_012738 phenoCommon Hemochromatosis type 3 (HFE3) [MIM:604250] VAR_012739 commonName VAR_012739 VAR_012739 disease not phenotype-associated VAR_012740 commonName VAR_012740 VAR_012740 disease not phenotype-associated VAR_012741 commonName VAR_012741 VAR_012741 disease not phenotype-associated VAR_012742 commonName VAR_012742 VAR_012742 disease phenotype-associated VAR_012742 phenoCommon Kallmann syndrome type 1 (KAL1) [MIM:308700] VAR_012743 commonName VAR_012743 VAR_012743 disease phenotype-associated VAR_012743 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240] VAR_012744 commonName VAR_012744 VAR_012744 disease phenotype-associated VAR_012744 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240] VAR_012745 commonName VAR_012745 VAR_012745 disease phenotype-associated VAR_012745 phenoCommon Medullary thyroid carcinoma (MTC) [MIM:155240] VAR_012746 commonName VAR_012746 VAR_012746 disease phenotype-associated VAR_012746 phenoCommon Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600] VAR_012748 commonName VAR_012748 VAR_012748 disease phenotype-associated VAR_012748 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_012750 commonName VAR_012750 VAR_012750 disease not phenotype-associated VAR_012751 commonName VAR_012751 VAR_012751 disease not phenotype-associated VAR_012752 commonName VAR_012752 VAR_012752 disease not phenotype-associated VAR_012753 commonName VAR_012753 VAR_012753 disease phenotype-associated VAR_012753 phenoCommon The autosomal recessive cornea plana 2 (CNA2) [MIM:217300] VAR_012754 commonName VAR_012754 VAR_012754 disease phenotype-associated VAR_012754 phenoCommon The autosomal recessive cornea plana 2 (CNA2) [MIM:217300] VAR_012755 commonName VAR_012755 VAR_012755 disease phenotype-associated VAR_012755 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690] VAR_012756 commonName VAR_012756 VAR_012756 disease not phenotype-associated VAR_012757 commonName VAR_012757 VAR_012757 disease phenotype-associated VAR_012757 phenoCommon Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970] VAR_012758 commonName VAR_012758 VAR_012758 disease phenotype-associated VAR_012758 phenoCommon Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970] VAR_012759 commonName VAR_012759 VAR_012759 disease phenotype-associated VAR_012759 phenoCommon Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970] VAR_012760 commonName VAR_012760 VAR_012760 disease phenotype-associated VAR_012760 phenoCommon Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970] VAR_012762 commonName VAR_012762 VAR_012762 disease phenotype-associated VAR_012762 phenoCommon Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970] VAR_012765 commonName VAR_012765 VAR_012765 disease phenotype-associated VAR_012765 phenoCommon Molybdenum cofactor deficiency type B (MOCOD type B) [MIM:252150] VAR_012766 commonName VAR_012766 VAR_012766 disease phenotype-associated VAR_012766 phenoCommon Glycine N-methyltransferase deficiency (GNMT deficiency) [MIM:606664] VAR_012767 commonName VAR_012767 VAR_012767 disease phenotype-associated VAR_012767 phenoCommon Glycine N-methyltransferase deficiency (GNMT deficiency) [MIM:606664] VAR_012768 commonName VAR_012768 VAR_012768 disease not phenotype-associated VAR_012769 commonName VAR_012769 VAR_012769 disease phenotype-associated VAR_012769 phenoCommon Congenital hypothyroidism non-goitrous type 2 (CHNG2) [MIM:218700] VAR_012770 commonName VAR_012770 VAR_012770 disease phenotype-associated VAR_012770 phenoCommon Congenital hypothyroidism non-goitrous type 2 (CHNG2) [MIM:218700] VAR_012771 commonName VAR_012771 VAR_012771 disease phenotype-associated VAR_012771 phenoCommon Congenital hypothyroidism non-goitrous type 2 (CHNG2) [MIM:218700] VAR_012772 commonName VAR_012772 VAR_012772 disease phenotype-associated VAR_012772 phenoCommon Congenital hypothyroidism non-goitrous type 2 (CHNG2) [MIM:218700] VAR_012774 commonName VAR_012774 VAR_012774 disease phenotype-associated VAR_012774 phenoCommon LIG4 syndrome (LIG4S) [MIM:606593] VAR_012775 commonName VAR_012775 VAR_012775 disease phenotype-associated VAR_012775 phenoCommon LIG4 syndrome (LIG4S) [MIM:606593] VAR_012776 commonName VAR_012776 VAR_012776 disease not phenotype-associated VAR_012777 commonName VAR_012777 VAR_012777 disease phenotype-associated VAR_012777 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700] VAR_012778 commonName VAR_012778 VAR_012778 disease phenotype-associated VAR_012778 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700] VAR_012779 commonName VAR_012779 VAR_012779 disease not phenotype-associated VAR_012780 commonName VAR_012780 VAR_012780 disease not phenotype-associated VAR_012781 commonName VAR_012781 VAR_012781 disease not phenotype-associated VAR_012782 commonName VAR_012782 VAR_012782 disease not phenotype-associated VAR_012783 commonName VAR_012783 VAR_012783 disease not phenotype-associated VAR_012784 commonName VAR_012784 VAR_012784 disease not phenotype-associated VAR_012785 commonName VAR_012785 VAR_012785 disease phenotype-associated VAR_012785 phenoCommon Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] VAR_012786 commonName VAR_012786 VAR_012786 disease phenotype-associated VAR_012786 phenoCommon Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] VAR_012787 commonName VAR_012787 VAR_012787 disease phenotype-associated VAR_012787 phenoCommon Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] VAR_012788 commonName VAR_012788 VAR_012788 disease phenotype-associated VAR_012788 phenoCommon Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] VAR_012789 commonName VAR_012789 VAR_012789 disease not phenotype-associated VAR_012790 commonName VAR_012790 VAR_012790 disease phenotype-associated VAR_012790 phenoCommon Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] VAR_012791 commonName VAR_012791 VAR_012791 disease phenotype-associated VAR_012791 phenoCommon Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] VAR_012792 commonName VAR_012792 VAR_012792 disease phenotype-associated VAR_012792 phenoCommon Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] VAR_012793 commonName VAR_012793 VAR_012793 disease phenotype-associated VAR_012793 phenoCommon Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] VAR_012794 commonName VAR_012794 VAR_012794 disease phenotype-associated VAR_012794 phenoCommon Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] VAR_012795 commonName VAR_012795 VAR_012795 disease phenotype-associated VAR_012795 phenoCommon Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] VAR_012796 commonName VAR_012796 VAR_012796 disease phenotype-associated VAR_012796 phenoCommon Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] VAR_012797 commonName VAR_012797 VAR_012797 disease phenotype-associated VAR_012797 phenoCommon Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] VAR_012798 commonName VAR_012798 VAR_012798 disease phenotype-associated VAR_012798 phenoCommon Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] VAR_012799 commonName VAR_012799 VAR_012799 disease phenotype-associated VAR_012799 phenoCommon Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] VAR_012800 commonName VAR_012800 VAR_012800 disease phenotype-associated VAR_012800 phenoCommon Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] VAR_012801 commonName VAR_012801 VAR_012801 disease phenotype-associated VAR_012801 phenoCommon Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] VAR_012802 commonName VAR_012802 VAR_012802 disease phenotype-associated VAR_012802 phenoCommon Long QT syndrome type 5 (LQT5) [MIM:613695] VAR_012803 commonName VAR_012803 VAR_012803 disease phenotype-associated VAR_012803 phenoCommon Chorea-acanthocytosis (CHAC) [MIM:200150] VAR_012804 commonName VAR_012804 VAR_012804 disease phenotype-associated VAR_012804 phenoCommon Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550] VAR_012805 commonName VAR_012805 VAR_012805 disease phenotype-associated VAR_012805 phenoCommon Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550] VAR_012806 commonName VAR_012806 VAR_012806 disease phenotype-associated VAR_012806 phenoCommon Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550] VAR_012807 commonName VAR_012807 VAR_012807 disease phenotype-associated VAR_012807 phenoCommon Tricho-rhino-phalangeal syndrome type 3 (TRPS3) [MIM:190351] VAR_012808 commonName VAR_012808 VAR_012808 disease phenotype-associated VAR_012808 phenoCommon Tricho-rhino-phalangeal syndrome type 3 (TRPS3) [MIM:190351] VAR_012809 commonName VAR_012809 VAR_012809 disease phenotype-associated VAR_012809 phenoCommon Tricho-rhino-phalangeal syndrome type 3 (TRPS3) [MIM:190351] VAR_012810 commonName VAR_012810 VAR_012810 disease phenotype-associated VAR_012810 phenoCommon Tricho-rhino-phalangeal syndrome type 3 (TRPS3) [MIM:190351] VAR_012811 commonName VAR_012811 VAR_012811 disease phenotype-associated VAR_012811 phenoCommon Tricho-rhino-phalangeal syndrome type 3 (TRPS3) [MIM:190351] VAR_012812 commonName VAR_012812 VAR_012812 disease not phenotype-associated VAR_012813 commonName VAR_012813 VAR_012813 disease not phenotype-associated VAR_012814 commonName VAR_012814 VAR_012814 disease not phenotype-associated VAR_012815 commonName VAR_012815 VAR_012815 disease phenotype-associated VAR_012815 phenoCommon Hereditary multiple exostoses type 1 (EXT1) [MIM:133700] VAR_012816 commonName VAR_012816 VAR_012816 disease phenotype-associated VAR_012816 phenoCommon Hereditary multiple exostoses type 1 (EXT1) [MIM:133700] VAR_012820 commonName VAR_012820 VAR_012820 disease phenotype-associated VAR_012820 phenoCommon Chondrosarcoma (CHDSA) [MIM:215300] VAR_012821 commonName VAR_012821 VAR_012821 disease phenotype-associated VAR_012821 phenoCommon Hereditary multiple exostoses type 1 (EXT1) [MIM:133700] VAR_012822 commonName VAR_012822 VAR_012822 disease phenotype-associated VAR_012822 phenoCommon Hereditary multiple exostoses type 1 (EXT1) [MIM:133700] VAR_012823 commonName VAR_012823 VAR_012823 disease phenotype-associated VAR_012823 phenoCommon Hereditary multiple exostoses type 2 (EXT2) [MIM:133701] VAR_012824 commonName VAR_012824 VAR_012824 disease phenotype-associated VAR_012824 phenoCommon Hereditary multiple exostoses type 2 (EXT2) [MIM:133701] VAR_012825 commonName VAR_012825 VAR_012825 disease phenotype-associated VAR_012825 phenoCommon Hereditary multiple exostoses type 2 (EXT2) [MIM:133701] VAR_012826 commonName VAR_012826 VAR_012826 disease phenotype-associated VAR_012826 phenoCommon Hereditary multiple exostoses type 2 (EXT2) [MIM:133701] VAR_012827 commonName VAR_012827 VAR_012827 disease phenotype-associated VAR_012827 phenoCommon Hereditary multiple exostoses type 2 (EXT2) [MIM:133701] VAR_012828 commonName VAR_012828 VAR_012828 disease phenotype-associated VAR_012828 phenoCommon Hereditary multiple exostoses type 2 (EXT2) [MIM:133701] VAR_012829 commonName VAR_012829 VAR_012830 commonName VAR_012830 VAR_012830 disease not phenotype-associated VAR_012831 commonName VAR_012831 VAR_012831 disease not phenotype-associated VAR_012832 commonName VAR_012832 VAR_012832 disease not phenotype-associated VAR_012833 commonName VAR_012833 VAR_012833 disease not phenotype-associated VAR_012834 commonName VAR_012834 VAR_012834 disease phenotype-associated VAR_012834 phenoCommon Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049] VAR_012835 commonName VAR_012835 VAR_012835 disease phenotype-associated VAR_012835 phenoCommon Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049] VAR_012836 commonName VAR_012836 VAR_012836 disease not phenotype-associated VAR_012838 commonName VAR_012838 VAR_012838 disease phenotype-associated VAR_012838 phenoCommon Methylcobalamin deficiency type E (cblE) [MIM:236270] VAR_012839 commonName VAR_012839 VAR_012839 disease phenotype-associated VAR_012839 phenoCommon Methylcobalamin deficiency type E (cblE) [MIM:236270] VAR_012840 commonName VAR_012840 VAR_012840 disease not phenotype-associated VAR_012841 commonName VAR_012841 VAR_012841 disease phenotype-associated VAR_012841 phenoCommon Methylcobalamin deficiency type E (cblE) [MIM:236270] VAR_012842 commonName VAR_012842 VAR_012842 disease phenotype-associated VAR_012842 phenoCommon Methylcobalamin deficiency type E (cblE) [MIM:236270] VAR_012844 commonName VAR_012844 VAR_012844 disease not phenotype-associated VAR_012846 commonName VAR_012846 VAR_012846 disease not phenotype-associated VAR_012847 commonName VAR_012847 VAR_012847 disease not phenotype-associated VAR_012848 commonName VAR_012848 VAR_012848 disease not phenotype-associated VAR_012849 commonName VAR_012849 VAR_012849 disease not phenotype-associated VAR_012850 commonName VAR_012850 VAR_012850 disease not phenotype-associated VAR_012851 commonName VAR_012851 VAR_012851 disease not phenotype-associated VAR_012852 commonName VAR_012852 VAR_012852 disease not phenotype-associated VAR_012853 commonName VAR_012853 VAR_012853 disease not phenotype-associated VAR_012855 commonName VAR_012855 VAR_012855 disease phenotype-associated VAR_012855 phenoCommon Pachyonychia congenita type 1 (PC1) [MIM:167200] VAR_012856 commonName VAR_012856 VAR_012856 disease phenotype-associated VAR_012856 phenoCommon Pachyonychia congenita type 1 (PC1) [MIM:167200] VAR_012857 commonName VAR_012857 VAR_012857 disease phenotype-associated VAR_012857 phenoCommon Familial hypertrophic cardiomyopathy type 11 (CMH11) [MIM:612098] VAR_012858 commonName VAR_012858 VAR_012858 disease phenotype-associated VAR_012858 phenoCommon Familial hypertrophic cardiomyopathy type 11 (CMH11) [MIM:612098] VAR_012859 commonName VAR_012859 VAR_012859 disease phenotype-associated VAR_012859 phenoCommon Familial hypertrophic cardiomyopathy type 11 (CMH11) [MIM:612098] VAR_012860 commonName VAR_012860 VAR_012860 disease phenotype-associated VAR_012860 phenoCommon Cardiomyopathy dilated type 1R (CMD1R) [MIM:613424] VAR_012861 commonName VAR_012861 VAR_012861 disease phenotype-associated VAR_012861 phenoCommon Familial hypertrophic cardiomyopathy type 11 (CMH11) [MIM:612098] VAR_012862 commonName VAR_012862 VAR_012862 disease phenotype-associated VAR_012862 phenoCommon Cardiomyopathy dilated type 1R (CMD1R) [MIM:613424] VAR_012863 commonName VAR_012863 VAR_012863 disease not phenotype-associated VAR_012864 commonName VAR_012864 VAR_012864 disease not phenotype-associated VAR_012865 commonName VAR_012865 VAR_012865 disease not phenotype-associated VAR_012871 commonName VAR_012871 VAR_012871 disease phenotype-associated VAR_012871 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_012872 commonName VAR_012872 VAR_012872 disease phenotype-associated VAR_012872 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_012873 commonName VAR_012873 VAR_012873 disease phenotype-associated VAR_012873 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_012874 commonName VAR_012874 VAR_012874 disease phenotype-associated VAR_012874 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_012876 commonName VAR_012876 VAR_012876 disease phenotype-associated VAR_012876 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_012877 commonName VAR_012877 VAR_012877 disease phenotype-associated VAR_012877 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_012878 commonName VAR_012878 VAR_012878 disease phenotype-associated VAR_012878 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_012879 commonName VAR_012879 VAR_012879 disease phenotype-associated VAR_012879 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_012880 commonName VAR_012880 VAR_012880 disease phenotype-associated VAR_012880 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_012881 commonName VAR_012881 VAR_012881 disease not phenotype-associated VAR_012882 commonName VAR_012882 VAR_012882 disease phenotype-associated VAR_012882 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_012883 commonName VAR_012883 VAR_012883 disease phenotype-associated VAR_012883 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_012884 commonName VAR_012884 VAR_012884 disease phenotype-associated VAR_012884 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_012885 commonName VAR_012885 VAR_012885 disease phenotype-associated VAR_012885 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_012886 commonName VAR_012886 VAR_012886 disease phenotype-associated VAR_012886 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_012887 commonName VAR_012887 VAR_012887 disease phenotype-associated VAR_012887 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_012888 commonName VAR_012888 VAR_012888 disease phenotype-associated VAR_012888 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_012889 commonName VAR_012889 VAR_012889 disease not phenotype-associated VAR_012890 commonName VAR_012890 VAR_012890 disease phenotype-associated VAR_012890 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_012891 commonName VAR_012891 VAR_012891 disease phenotype-associated VAR_012891 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_012892 commonName VAR_012892 VAR_012892 disease phenotype-associated VAR_012892 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_012893 commonName VAR_012893 VAR_012893 disease phenotype-associated VAR_012893 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_012894 commonName VAR_012894 VAR_012894 disease phenotype-associated VAR_012894 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_012895 commonName VAR_012895 VAR_012895 disease phenotype-associated VAR_012895 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_012896 commonName VAR_012896 VAR_012896 disease phenotype-associated VAR_012896 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_012897 commonName VAR_012897 VAR_012897 disease not phenotype-associated VAR_012898 commonName VAR_012898 VAR_012898 disease not phenotype-associated VAR_012899 commonName VAR_012899 VAR_012899 disease phenotype-associated VAR_012899 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_012900 commonName VAR_012900 VAR_012900 disease phenotype-associated VAR_012900 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_012902 commonName VAR_012902 VAR_012903 commonName VAR_012903 VAR_012903 disease phenotype-associated VAR_012903 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_012904 commonName VAR_012904 VAR_012905 commonName VAR_012905 VAR_012905 disease phenotype-associated VAR_012905 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_012906 commonName VAR_012906 VAR_012906 disease phenotype-associated VAR_012906 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_012907 commonName VAR_012907 VAR_012907 disease phenotype-associated VAR_012907 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_012908 commonName VAR_012908 VAR_012908 disease phenotype-associated VAR_012908 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_012909 commonName VAR_012909 VAR_012909 disease phenotype-associated VAR_012909 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_012910 commonName VAR_012910 VAR_012910 disease not phenotype-associated VAR_012911 commonName VAR_012911 VAR_012911 disease phenotype-associated VAR_012911 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_012912 commonName VAR_012912 VAR_012914 commonName VAR_012914 VAR_012914 disease not phenotype-associated VAR_012915 commonName VAR_012915 VAR_012916 commonName VAR_012916 VAR_012916 disease phenotype-associated VAR_012916 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_012917 commonName VAR_012917 VAR_012918 commonName VAR_012918 VAR_012918 disease phenotype-associated VAR_012918 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_012919 commonName VAR_012919 VAR_012919 disease not phenotype-associated VAR_012920 commonName VAR_012920 VAR_012920 disease phenotype-associated VAR_012920 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_012921 commonName VAR_012921 VAR_012921 disease phenotype-associated VAR_012921 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_012922 commonName VAR_012922 VAR_012922 disease phenotype-associated VAR_012922 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_012923 commonName VAR_012923 VAR_012923 disease phenotype-associated VAR_012923 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_012924 commonName VAR_012924 VAR_012924 disease phenotype-associated VAR_012924 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_012925 commonName VAR_012925 VAR_012926 commonName VAR_012926 VAR_012927 commonName VAR_012927 VAR_012927 disease phenotype-associated VAR_012927 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_012928 commonName VAR_012928 VAR_012928 disease phenotype-associated VAR_012928 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_012929 commonName VAR_012929 VAR_012929 disease phenotype-associated VAR_012929 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_012930 commonName VAR_012930 VAR_012931 commonName VAR_012931 VAR_012936 commonName VAR_012936 VAR_012936 disease phenotype-associated VAR_012936 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_012937 comment Glioma VAR_012937 commonName VAR_012937 VAR_012938 commonName VAR_012938 VAR_012939 commonName VAR_012939 VAR_012940 commonName VAR_012940 VAR_012941 commonName VAR_012941 VAR_012942 commonName VAR_012942 VAR_012943 commonName VAR_012943 VAR_012944 commonName VAR_012944 VAR_012944 disease phenotype-associated VAR_012944 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_012945 commonName VAR_012945 VAR_012945 disease phenotype-associated VAR_012945 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_012946 commonName VAR_012946 VAR_012946 disease phenotype-associated VAR_012946 phenoCommon Hereditary non-polyposis colorectal cancer type 7 (HNPCC7) [MIM:614385] VAR_012947 commonName VAR_012947 VAR_012947 disease phenotype-associated VAR_012947 phenoCommon Hereditary non-polyposis colorectal cancer type 7 (HNPCC7) [MIM:614385] VAR_012948 commonName VAR_012948 VAR_012948 disease phenotype-associated VAR_012948 phenoCommon Hereditary non-polyposis colorectal cancer type 7 (HNPCC7) [MIM:614385] VAR_012949 commonName VAR_012949 VAR_012949 disease phenotype-associated VAR_012949 phenoCommon Hereditary non-polyposis colorectal cancer type 7 (HNPCC7) [MIM:614385] VAR_012950 commonName VAR_012950 VAR_012950 disease phenotype-associated VAR_012950 phenoCommon Hereditary non-polyposis colorectal cancer type 7 (HNPCC7) [MIM:614385] VAR_012951 commonName VAR_012951 VAR_012951 disease phenotype-associated VAR_012951 phenoCommon Hereditary non-polyposis colorectal cancer type 7 (HNPCC7) [MIM:614385] VAR_012952 commonName VAR_012952 VAR_012952 disease phenotype-associated VAR_012952 phenoCommon Hereditary non-polyposis colorectal cancer type 7 (HNPCC7) [MIM:614385] VAR_012953 commonName VAR_012953 VAR_012953 disease phenotype-associated VAR_012953 phenoCommon Hereditary non-polyposis colorectal cancer type 7 (HNPCC7) [MIM:614385] VAR_012954 commonName VAR_012954 VAR_012954 disease phenotype-associated VAR_012954 phenoCommon Hereditary non-polyposis colorectal cancer type 7 (HNPCC7) [MIM:614385] VAR_012955 commonName VAR_012955 VAR_012955 disease not phenotype-associated VAR_012956 commonName VAR_012956 VAR_012956 disease not phenotype-associated VAR_012957 commonName VAR_012957 VAR_012958 commonName VAR_012958 VAR_012959 commonName VAR_012959 VAR_012960 commonName VAR_012960 VAR_012961 commonName VAR_012961 VAR_012961 disease not phenotype-associated VAR_012962 commonName VAR_012962 VAR_012963 commonName VAR_012963 VAR_012964 comment Colorectal/endometrial cancer VAR_012964 commonName VAR_012964 VAR_012965 commonName VAR_012965 VAR_012967 commonName VAR_012967 VAR_012967 disease not phenotype-associated VAR_012968 commonName VAR_012968 VAR_012968 disease not phenotype-associated VAR_012969 commonName VAR_012969 VAR_012969 disease not phenotype-associated VAR_012970 commonName VAR_012970 VAR_012970 disease not phenotype-associated VAR_012971 commonName VAR_012971 VAR_012971 disease not phenotype-associated VAR_012975 comment Colorectal carcinoma VAR_012975 commonName VAR_012975 VAR_012976 comment Colorectal carcinoma from a patient with MMRCS VAR_012976 commonName VAR_012976 VAR_012977 comment Sporadic cancers VAR_012977 commonName VAR_012977 VAR_012978 commonName VAR_012978 VAR_012978 disease not phenotype-associated VAR_012979 commonName VAR_012979 VAR_012979 disease not phenotype-associated VAR_012982 commonName VAR_012982 VAR_012982 disease not phenotype-associated VAR_012983 commonName VAR_012983 VAR_012983 disease not phenotype-associated VAR_012984 commonName VAR_012984 VAR_012984 disease not phenotype-associated VAR_012985 commonName VAR_012985 VAR_012985 disease not phenotype-associated VAR_012986 commonName VAR_012986 VAR_012986 disease not phenotype-associated VAR_012987 commonName VAR_012987 VAR_012987 disease phenotype-associated VAR_012987 phenoCommon Cone dystrophy type 3 (COD3) [MIM:602093] VAR_012988 commonName VAR_012988 VAR_012988 disease not phenotype-associated VAR_012989 commonName VAR_012989 VAR_012989 disease not phenotype-associated VAR_012990 commonName VAR_012990 VAR_012990 disease not phenotype-associated VAR_012991 commonName VAR_012991 VAR_012991 disease not phenotype-associated VAR_012993 commonName VAR_012993 VAR_012993 disease not phenotype-associated VAR_012995 commonName VAR_012995 VAR_012995 disease not phenotype-associated VAR_012996 commonName VAR_012996 VAR_012996 disease not phenotype-associated VAR_012997 commonName VAR_012997 VAR_012997 disease phenotype-associated VAR_012997 phenoCommon Atransferrinemia (ATRAF) [MIM:209300] VAR_013000 commonName VAR_013000 VAR_013000 disease not phenotype-associated VAR_013002 commonName VAR_013002 VAR_013002 disease not phenotype-associated VAR_013003 commonName VAR_013003 VAR_013003 disease not phenotype-associated VAR_013005 commonName VAR_013005 VAR_013005 disease not phenotype-associated VAR_013006 commonName VAR_013006 VAR_013006 disease not phenotype-associated VAR_013007 commonName VAR_013007 VAR_013007 disease not phenotype-associated VAR_013008 commonName VAR_013008 VAR_013008 disease not phenotype-associated VAR_013009 commonName VAR_013009 VAR_013009 disease phenotype-associated VAR_013009 phenoCommon Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] VAR_013010 commonName VAR_013010 VAR_013010 disease phenotype-associated VAR_013010 phenoCommon Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) [MIM:610006] VAR_013011 commonName VAR_013011 VAR_013011 disease phenotype-associated VAR_013011 phenoCommon Familial dysalbuminemic hyperthyroxinemia (FDH) [MIM:103600] VAR_013012 commonName VAR_013012 VAR_013013 commonName VAR_013013 VAR_013013 disease phenotype-associated VAR_013013 phenoCommon Familial dysalbuminemic hyperthyroxinemia (FDH) [MIM:103600] VAR_013014 commonName VAR_013014 VAR_013015 commonName VAR_013015 VAR_013016 commonName VAR_013016 VAR_013017 commonName VAR_013017 VAR_013020 commonName VAR_013020 VAR_013020 disease not phenotype-associated VAR_013027 commonName VAR_013027 VAR_013027 disease not phenotype-associated VAR_013029 commonName VAR_013029 VAR_013029 disease phenotype-associated VAR_013029 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_013030 commonName VAR_013030 VAR_013030 disease not phenotype-associated VAR_013031 commonName VAR_013031 VAR_013031 disease phenotype-associated VAR_013031 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_013033 commonName VAR_013033 VAR_013033 disease phenotype-associated VAR_013033 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_013035 commonName VAR_013035 VAR_013035 disease phenotype-associated VAR_013035 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_013036 commonName VAR_013036 VAR_013036 disease phenotype-associated VAR_013036 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_013037 commonName VAR_013037 VAR_013037 disease phenotype-associated VAR_013037 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_013038 commonName VAR_013038 VAR_013038 disease phenotype-associated VAR_013038 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_013039 commonName VAR_013039 VAR_013039 disease phenotype-associated VAR_013039 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_013040 commonName VAR_013040 VAR_013040 disease phenotype-associated VAR_013040 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_013041 commonName VAR_013041 VAR_013042 commonName VAR_013042 VAR_013042 disease not phenotype-associated VAR_013043 commonName VAR_013043 VAR_013043 disease phenotype-associated VAR_013043 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_013044 commonName VAR_013044 VAR_013044 disease phenotype-associated VAR_013044 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_013045 commonName VAR_013045 VAR_013045 disease phenotype-associated VAR_013045 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_013046 commonName VAR_013046 VAR_013046 disease phenotype-associated VAR_013046 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_013047 commonName VAR_013047 VAR_013047 disease phenotype-associated VAR_013047 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_013048 commonName VAR_013048 VAR_013048 disease phenotype-associated VAR_013048 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_013049 commonName VAR_013049 VAR_013049 disease phenotype-associated VAR_013049 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_013050 commonName VAR_013050 VAR_013050 disease phenotype-associated VAR_013050 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_013051 commonName VAR_013051 VAR_013051 disease phenotype-associated VAR_013051 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_013052 commonName VAR_013052 VAR_013052 disease phenotype-associated VAR_013052 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_013053 commonName VAR_013053 VAR_013053 disease phenotype-associated VAR_013053 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_013054 commonName VAR_013054 VAR_013054 disease not phenotype-associated VAR_013055 commonName VAR_013055 VAR_013055 disease phenotype-associated VAR_013055 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_013056 commonName VAR_013056 VAR_013056 disease not phenotype-associated VAR_013057 commonName VAR_013057 VAR_013057 disease not phenotype-associated VAR_013058 commonName VAR_013058 VAR_013058 disease not phenotype-associated VAR_013059 commonName VAR_013059 VAR_013059 disease not phenotype-associated VAR_013060 commonName VAR_013060 VAR_013060 disease not phenotype-associated VAR_013061 commonName VAR_013061 VAR_013061 disease not phenotype-associated VAR_013062 commonName VAR_013062 VAR_013062 disease not phenotype-associated VAR_013063 commonName VAR_013063 VAR_013063 disease not phenotype-associated VAR_013066 commonName VAR_013066 VAR_013066 disease not phenotype-associated VAR_013067 commonName VAR_013067 VAR_013067 disease not phenotype-associated VAR_013068 commonName VAR_013068 VAR_013068 disease not phenotype-associated VAR_013069 commonName VAR_013069 VAR_013069 disease not phenotype-associated VAR_013070 commonName VAR_013070 VAR_013070 disease not phenotype-associated VAR_013071 commonName VAR_013071 VAR_013071 disease not phenotype-associated VAR_013072 commonName VAR_013072 VAR_013072 disease not phenotype-associated VAR_013073 commonName VAR_013073 VAR_013073 disease not phenotype-associated VAR_013074 commonName VAR_013074 VAR_013074 disease not phenotype-associated VAR_013075 commonName VAR_013075 VAR_013075 disease not phenotype-associated VAR_013076 commonName VAR_013076 VAR_013076 disease not phenotype-associated VAR_013077 commonName VAR_013077 VAR_013077 disease not phenotype-associated VAR_013078 commonName VAR_013078 VAR_013078 disease not phenotype-associated VAR_013079 commonName VAR_013079 VAR_013079 disease not phenotype-associated VAR_013080 commonName VAR_013080 VAR_013080 disease not phenotype-associated VAR_013081 commonName VAR_013081 VAR_013081 disease not phenotype-associated VAR_013082 commonName VAR_013082 VAR_013082 disease not phenotype-associated VAR_013083 commonName VAR_013083 VAR_013083 disease not phenotype-associated VAR_013085 commonName VAR_013085 VAR_013085 disease not phenotype-associated VAR_013086 commonName VAR_013086 VAR_013086 disease not phenotype-associated VAR_013087 commonName VAR_013087 VAR_013087 disease not phenotype-associated VAR_013088 commonName VAR_013088 VAR_013088 disease not phenotype-associated VAR_013089 commonName VAR_013089 VAR_013089 disease not phenotype-associated VAR_013090 commonName VAR_013090 VAR_013090 disease not phenotype-associated VAR_013091 commonName VAR_013091 VAR_013091 disease not phenotype-associated VAR_013092 commonName VAR_013092 VAR_013092 disease not phenotype-associated VAR_013093 commonName VAR_013093 VAR_013093 disease not phenotype-associated VAR_013094 commonName VAR_013094 VAR_013094 disease not phenotype-associated VAR_013095 commonName VAR_013095 VAR_013095 disease not phenotype-associated VAR_013096 commonName VAR_013096 VAR_013096 disease not phenotype-associated VAR_013097 commonName VAR_013097 VAR_013097 disease not phenotype-associated VAR_013098 commonName VAR_013098 VAR_013098 disease not phenotype-associated VAR_013101 commonName VAR_013101 VAR_013101 disease not phenotype-associated VAR_013102 commonName VAR_013102 VAR_013102 disease not phenotype-associated VAR_013103 commonName VAR_013103 VAR_013103 disease phenotype-associated VAR_013103 phenoCommon Glycogen storage disease type 10 (GSD10) [MIM:261670] VAR_013104 commonName VAR_013104 VAR_013104 disease not phenotype-associated VAR_013105 commonName VAR_013105 VAR_013105 disease phenotype-associated VAR_013105 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] VAR_013106 commonName VAR_013106 VAR_013106 disease phenotype-associated VAR_013106 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] VAR_013108 commonName VAR_013108 VAR_013108 disease phenotype-associated VAR_013108 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] VAR_013109 commonName VAR_013109 VAR_013109 disease phenotype-associated VAR_013109 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] VAR_013110 commonName VAR_013110 VAR_013110 disease phenotype-associated VAR_013110 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] VAR_013111 commonName VAR_013111 VAR_013111 disease phenotype-associated VAR_013111 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] VAR_013112 commonName VAR_013112 VAR_013112 disease phenotype-associated VAR_013112 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] VAR_013113 commonName VAR_013113 VAR_013113 disease phenotype-associated VAR_013113 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] VAR_013114 commonName VAR_013114 VAR_013114 disease not phenotype-associated VAR_013115 commonName VAR_013115 VAR_013115 disease not phenotype-associated VAR_013116 commonName VAR_013116 VAR_013116 disease not phenotype-associated VAR_013117 commonName VAR_013117 VAR_013117 disease not phenotype-associated VAR_013118 commonName VAR_013118 VAR_013118 disease not phenotype-associated VAR_013121 commonName VAR_013121 VAR_013121 disease not phenotype-associated VAR_013122 commonName VAR_013122 VAR_013122 disease not phenotype-associated VAR_013123 commonName VAR_013123 VAR_013123 disease not phenotype-associated VAR_013124 commonName VAR_013124 VAR_013124 disease not phenotype-associated VAR_013125 commonName VAR_013125 VAR_013125 disease not phenotype-associated VAR_013126 commonName VAR_013126 VAR_013126 disease phenotype-associated VAR_013126 phenoCommon Meesmann corneal dystrophy (MECD) [MIM:122100] VAR_013127 commonName VAR_013127 VAR_013127 disease phenotype-associated VAR_013127 phenoCommon Meesmann corneal dystrophy (MECD) [MIM:122100] VAR_013128 commonName VAR_013128 VAR_013128 disease not phenotype-associated VAR_013130 commonName VAR_013130 VAR_013130 disease phenotype-associated VAR_013130 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] VAR_013131 commonName VAR_013131 VAR_013131 disease not phenotype-associated VAR_013132 commonName VAR_013132 VAR_013132 disease phenotype-associated VAR_013132 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] VAR_013133 commonName VAR_013133 VAR_013133 disease phenotype-associated VAR_013133 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] VAR_013134 commonName VAR_013134 VAR_013134 disease phenotype-associated VAR_013134 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] VAR_013135 commonName VAR_013135 VAR_013135 disease phenotype-associated VAR_013135 phenoCommon Familial hypertrophic cardiomyopathy type 3 (CMH3) [MIM:115196] VAR_013137 commonName VAR_013137 VAR_013137 disease not phenotype-associated VAR_013138 commonName VAR_013138 VAR_013138 disease phenotype-associated VAR_013138 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] VAR_013139 commonName VAR_013139 VAR_013139 disease phenotype-associated VAR_013139 phenoCommon Properdin deficiency (PFD) [MIM:312060] VAR_013140 commonName VAR_013140 VAR_013140 disease not phenotype-associated VAR_013141 comment A Wilms' tumor VAR_013141 commonName VAR_013141 VAR_013142 comment A breast tumor VAR_013142 commonName VAR_013142 VAR_013143 comment A prostate tumor VAR_013143 commonName VAR_013143 VAR_013146 commonName VAR_013146 VAR_013146 disease phenotype-associated VAR_013146 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_013147 commonName VAR_013147 VAR_013147 disease phenotype-associated VAR_013147 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110] VAR_013148 commonName VAR_013148 VAR_013148 disease not phenotype-associated VAR_013149 commonName VAR_013149 VAR_013149 disease not phenotype-associated VAR_013150 commonName VAR_013150 VAR_013157 commonName VAR_013157 VAR_013157 disease not phenotype-associated VAR_013160 commonName VAR_013160 VAR_013160 disease not phenotype-associated VAR_013161 commonName VAR_013161 VAR_013161 disease phenotype-associated VAR_013161 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] VAR_013162 commonName VAR_013162 VAR_013162 disease phenotype-associated VAR_013162 phenoCommon Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900] VAR_013163 commonName VAR_013163 VAR_013163 disease phenotype-associated VAR_013163 phenoCommon Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900] VAR_013164 commonName VAR_013164 VAR_013164 disease phenotype-associated VAR_013164 phenoCommon Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900] VAR_013165 commonName VAR_013165 VAR_013165 disease not phenotype-associated VAR_013166 commonName VAR_013166 VAR_013166 disease phenotype-associated VAR_013166 phenoCommon Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900] VAR_013167 commonName VAR_013167 VAR_013167 disease phenotype-associated VAR_013167 phenoCommon Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900] VAR_013168 commonName VAR_013168 VAR_013168 disease phenotype-associated VAR_013168 phenoCommon Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900] VAR_013169 commonName VAR_013169 VAR_013169 disease phenotype-associated VAR_013169 phenoCommon Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900] VAR_013170 commonName VAR_013170 VAR_013170 disease phenotype-associated VAR_013170 phenoCommon Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900] VAR_013171 commonName VAR_013171 VAR_013171 disease not phenotype-associated VAR_013174 commonName VAR_013174 VAR_013174 disease phenotype-associated VAR_013174 phenoCommon Neuronal ceroid lipofuscinosis type 8 Northern epilepsy variant (CLN8NE) [MIM:610003] VAR_013175 commonName VAR_013175 VAR_013175 disease not phenotype-associated VAR_013176 commonName VAR_013176 VAR_013176 disease not phenotype-associated VAR_013179 commonName VAR_013179 VAR_013179 disease not phenotype-associated VAR_013181 commonName VAR_013181 VAR_013181 disease phenotype-associated VAR_013181 phenoCommon Cardiomyopathy dilated type 1L (CMD1L) [MIM:606685] VAR_013182 commonName VAR_013182 VAR_013182 disease phenotype-associated VAR_013182 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] VAR_013183 commonName VAR_013183 VAR_013183 disease phenotype-associated VAR_013183 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] VAR_013184 commonName VAR_013184 VAR_013184 disease phenotype-associated VAR_013184 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] VAR_013185 commonName VAR_013185 VAR_013185 disease phenotype-associated VAR_013185 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] VAR_013186 commonName VAR_013186 VAR_013186 disease phenotype-associated VAR_013186 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_013187 commonName VAR_013187 VAR_013187 disease phenotype-associated VAR_013187 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_013188 commonName VAR_013188 VAR_013188 disease phenotype-associated VAR_013188 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_013189 commonName VAR_013189 VAR_013189 disease phenotype-associated VAR_013189 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_013190 commonName VAR_013190 VAR_013190 disease phenotype-associated VAR_013190 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_013191 commonName VAR_013191 VAR_013191 disease phenotype-associated VAR_013191 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_013192 commonName VAR_013192 VAR_013192 disease phenotype-associated VAR_013192 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_013193 commonName VAR_013193 VAR_013193 disease phenotype-associated VAR_013193 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_013194 commonName VAR_013194 VAR_013194 disease phenotype-associated VAR_013194 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_013195 commonName VAR_013195 VAR_013195 disease phenotype-associated VAR_013195 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_013196 commonName VAR_013196 VAR_013196 disease phenotype-associated VAR_013196 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_013197 commonName VAR_013197 VAR_013197 disease phenotype-associated VAR_013197 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_013198 commonName VAR_013198 VAR_013198 disease phenotype-associated VAR_013198 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_013199 commonName VAR_013199 VAR_013199 disease phenotype-associated VAR_013199 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_013200 commonName VAR_013200 VAR_013200 disease phenotype-associated VAR_013200 phenoCommon Tetralogy of Fallot (TOF) [MIM:187500] VAR_013201 commonName VAR_013201 VAR_013201 disease phenotype-associated VAR_013201 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_013202 commonName VAR_013202 VAR_013202 disease phenotype-associated VAR_013202 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_013203 commonName VAR_013203 VAR_013203 disease phenotype-associated VAR_013203 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_013204 commonName VAR_013204 VAR_013204 disease phenotype-associated VAR_013204 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_013205 commonName VAR_013205 VAR_013205 disease phenotype-associated VAR_013205 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_013206 commonName VAR_013206 VAR_013206 disease phenotype-associated VAR_013206 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_013207 commonName VAR_013207 VAR_013207 disease phenotype-associated VAR_013207 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_013208 comment MALT lymphoma VAR_013208 commonName VAR_013208 VAR_013209 comment MALT lymphoma VAR_013209 commonName VAR_013209 VAR_013210 comment MALT lymphoma VAR_013210 commonName VAR_013210 VAR_013211 commonName VAR_013211 VAR_013212 commonName VAR_013212 VAR_013213 comment MALT lymphoma VAR_013213 commonName VAR_013213 VAR_013214 comment Germ cell tumor VAR_013214 commonName VAR_013214 VAR_013215 commonName VAR_013215 VAR_013216 comment MALT lymphoma VAR_013216 commonName VAR_013216 VAR_013217 commonName VAR_013217 VAR_013218 comment MALT lymphoma VAR_013218 commonName VAR_013218 VAR_013219 comment MALT lymphoma VAR_013219 commonName VAR_013219 VAR_013220 commonName VAR_013220 VAR_013221 comment MALT lymphoma VAR_013221 commonName VAR_013221 VAR_013222 comment MALT lymphoma VAR_013222 commonName VAR_013222 VAR_013224 comment MALT lymphoma VAR_013224 commonName VAR_013224 VAR_013225 comment Germ cell tumor VAR_013225 commonName VAR_013225 VAR_013226 comment MALT lymphoma VAR_013226 commonName VAR_013226 VAR_013227 commonName VAR_013227 VAR_013227 disease phenotype-associated VAR_013227 phenoCommon Familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100] VAR_013227 phenoCommon Muckle-Wells syndrome (MWS) [MIM:191900] VAR_013228 commonName VAR_013228 VAR_013228 disease phenotype-associated VAR_013228 phenoCommon Muckle-Wells syndrome (MWS) [MIM:191900] VAR_013229 commonName VAR_013229 VAR_013229 disease phenotype-associated VAR_013229 phenoCommon Familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100] VAR_013230 commonName VAR_013230 VAR_013230 disease phenotype-associated VAR_013230 phenoCommon Familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100] VAR_013231 commonName VAR_013231 VAR_013231 disease not phenotype-associated VAR_013232 commonName VAR_013232 VAR_013232 disease not phenotype-associated VAR_013233 commonName VAR_013233 VAR_013233 disease not phenotype-associated VAR_013234 commonName VAR_013234 VAR_013234 disease not phenotype-associated VAR_013235 commonName VAR_013235 VAR_013235 disease phenotype-associated VAR_013235 phenoCommon Cryptorchidism (CRYPTO) [MIM:219050] VAR_013236 commonName VAR_013236 VAR_013236 disease phenotype-associated VAR_013236 phenoCommon Cryptorchidism (CRYPTO) [MIM:219050] VAR_013237 commonName VAR_013237 VAR_013237 disease not phenotype-associated VAR_013238 commonName VAR_013238 VAR_013238 disease phenotype-associated VAR_013238 phenoCommon Fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency (FIC) [MIM:604377] VAR_013239 commonName VAR_013239 VAR_013239 disease not phenotype-associated VAR_013241 commonName VAR_013241 VAR_013241 disease not phenotype-associated VAR_013242 commonName VAR_013242 VAR_013242 disease not phenotype-associated VAR_013244 commonName VAR_013244 VAR_013244 disease not phenotype-associated VAR_013245 commonName VAR_013245 VAR_013245 disease not phenotype-associated VAR_013246 commonName VAR_013246 VAR_013246 disease not phenotype-associated VAR_013247 commonName VAR_013247 VAR_013247 disease not phenotype-associated VAR_013248 commonName VAR_013248 VAR_013248 disease not phenotype-associated VAR_013249 commonName VAR_013249 VAR_013249 disease not phenotype-associated VAR_013250 commonName VAR_013250 VAR_013250 disease not phenotype-associated VAR_013251 commonName VAR_013251 VAR_013251 disease phenotype-associated VAR_013251 phenoCommon Hermansky-Pudlak syndrome type 3 (HPS3) [MIM:614072] VAR_013252 commonName VAR_013252 VAR_013252 disease not phenotype-associated VAR_013253 commonName VAR_013253 VAR_013253 disease not phenotype-associated VAR_013255 commonName VAR_013255 VAR_013255 disease phenotype-associated VAR_013255 phenoCommon Alpha-2-plasmin inhibitor deficiency (APLID) [MIM:262850] VAR_013256 commonName VAR_013256 VAR_013256 disease not phenotype-associated VAR_013257 commonName VAR_013257 VAR_013257 disease phenotype-associated VAR_013257 phenoCommon Cherubism (CRBM) [MIM:118400] VAR_013258 commonName VAR_013258 VAR_013258 disease phenotype-associated VAR_013258 phenoCommon Cherubism (CRBM) [MIM:118400] VAR_013259 commonName VAR_013259 VAR_013259 disease phenotype-associated VAR_013259 phenoCommon Cherubism (CRBM) [MIM:118400] VAR_013260 commonName VAR_013260 VAR_013260 disease phenotype-associated VAR_013260 phenoCommon Cherubism (CRBM) [MIM:118400] VAR_013261 commonName VAR_013261 VAR_013261 disease phenotype-associated VAR_013261 phenoCommon Cherubism (CRBM) [MIM:118400] VAR_013262 commonName VAR_013262 VAR_013262 disease phenotype-associated VAR_013262 phenoCommon Cherubism (CRBM) [MIM:118400] VAR_013263 commonName VAR_013263 VAR_013263 disease phenotype-associated VAR_013263 phenoCommon Cherubism (CRBM) [MIM:118400] VAR_013264 commonName VAR_013264 VAR_013264 disease phenotype-associated VAR_013264 phenoCommon Cardiomyopathy, familial hypertrophic type 6 (CMH6) [MIM:600858] VAR_013264 phenoCommon Wolff-Parkinson-White syndrome (WPWS) [MIM:194200] VAR_013273 commonName VAR_013273 VAR_013274 commonName VAR_013274 VAR_013274 disease phenotype-associated VAR_013274 phenoCommon Adiponectin deficiency (ADPND) [MIM:612556] VAR_013275 commonName VAR_013275 VAR_013275 disease not phenotype-associated VAR_013276 commonName VAR_013276 VAR_013277 commonName VAR_013277 VAR_013277 disease not phenotype-associated VAR_013278 commonName VAR_013278 VAR_013278 disease not phenotype-associated VAR_013279 commonName VAR_013279 VAR_013280 commonName VAR_013280 VAR_013280 disease phenotype-associated VAR_013280 phenoCommon Hypomagnesemia type 2 (HOMG2) [MIM:154020] VAR_013281 commonName VAR_013281 VAR_013281 disease phenotype-associated VAR_013281 phenoCommon Visceral heterotaxy autosomal type 4 (HTX4) [MIM:613751] VAR_013283 commonName VAR_013283 VAR_013283 disease phenotype-associated VAR_013283 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] VAR_013284 commonName VAR_013284 VAR_013284 disease phenotype-associated VAR_013284 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] VAR_013285 commonName VAR_013285 VAR_013285 disease phenotype-associated VAR_013285 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] VAR_013286 commonName VAR_013286 VAR_013286 disease phenotype-associated VAR_013286 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] VAR_013287 commonName VAR_013287 VAR_013287 disease not phenotype-associated VAR_013288 commonName VAR_013288 VAR_013288 disease not phenotype-associated VAR_013289 commonName VAR_013289 VAR_013289 disease not phenotype-associated VAR_013290 commonName VAR_013290 VAR_013290 disease not phenotype-associated VAR_013291 commonName VAR_013291 VAR_013291 disease not phenotype-associated VAR_013292 commonName VAR_013292 VAR_013292 disease not phenotype-associated VAR_013293 commonName VAR_013293 VAR_013293 disease not phenotype-associated VAR_013294 commonName VAR_013294 VAR_013295 commonName VAR_013295 VAR_013295 disease not phenotype-associated VAR_013296 commonName VAR_013296 VAR_013296 disease not phenotype-associated VAR_013297 commonName VAR_013297 VAR_013297 disease not phenotype-associated VAR_013298 commonName VAR_013298 VAR_013298 disease not phenotype-associated VAR_013299 commonName VAR_013299 VAR_013299 disease not phenotype-associated VAR_013300 commonName VAR_013300 VAR_013300 disease not phenotype-associated VAR_013301 commonName VAR_013301 VAR_013302 commonName VAR_013302 VAR_013303 commonName VAR_013303 VAR_013304 commonName VAR_013304 VAR_013305 commonName VAR_013305 VAR_013305 disease not phenotype-associated VAR_013306 commonName VAR_013306 VAR_013306 disease not phenotype-associated VAR_013307 commonName VAR_013307 VAR_013308 commonName VAR_013308 VAR_013308 disease not phenotype-associated VAR_013309 commonName VAR_013309 VAR_013309 disease not phenotype-associated VAR_013311 commonName VAR_013311 VAR_013311 disease not phenotype-associated VAR_013312 commonName VAR_013312 VAR_013312 disease not phenotype-associated VAR_013313 commonName VAR_013313 VAR_013313 disease not phenotype-associated VAR_013314 commonName VAR_013314 VAR_013314 disease not phenotype-associated VAR_013315 commonName VAR_013315 VAR_013315 disease not phenotype-associated VAR_013316 commonName VAR_013316 VAR_013316 disease not phenotype-associated VAR_013317 commonName VAR_013317 VAR_013317 disease not phenotype-associated VAR_013318 commonName VAR_013318 VAR_013318 disease not phenotype-associated VAR_013319 commonName VAR_013319 VAR_013319 disease not phenotype-associated VAR_013320 commonName VAR_013320 VAR_013320 disease not phenotype-associated VAR_013321 commonName VAR_013321 VAR_013321 disease not phenotype-associated VAR_013322 commonName VAR_013322 VAR_013322 disease not phenotype-associated VAR_013323 commonName VAR_013323 VAR_013323 disease not phenotype-associated VAR_013324 commonName VAR_013324 VAR_013324 disease not phenotype-associated VAR_013325 commonName VAR_013325 VAR_013325 disease not phenotype-associated VAR_013326 commonName VAR_013326 VAR_013326 disease not phenotype-associated VAR_013327 commonName VAR_013327 VAR_013327 disease phenotype-associated VAR_013327 phenoCommon Dubin-Johnson syndrome (DJS) [MIM:237500] VAR_013328 commonName VAR_013328 VAR_013328 disease phenotype-associated VAR_013328 phenoCommon Dubin-Johnson syndrome (DJS) [MIM:237500] VAR_013330 commonName VAR_013330 VAR_013330 disease not phenotype-associated VAR_013331 commonName VAR_013331 VAR_013331 disease not phenotype-associated VAR_013332 commonName VAR_013332 VAR_013332 disease phenotype-associated VAR_013332 phenoCommon Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847] VAR_013333 commonName VAR_013333 VAR_013333 disease not phenotype-associated VAR_013334 commonName VAR_013334 VAR_013334 disease phenotype-associated VAR_013334 phenoCommon Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847] VAR_013335 commonName VAR_013335 VAR_013335 disease phenotype-associated VAR_013335 phenoCommon Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847] VAR_013340 commonName VAR_013340 VAR_013340 disease not phenotype-associated VAR_013341 commonName VAR_013341 VAR_013341 disease phenotype-associated VAR_013341 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_013342 commonName VAR_013342 VAR_013342 disease phenotype-associated VAR_013342 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_013344 commonName VAR_013344 VAR_013344 disease phenotype-associated VAR_013344 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_013345 commonName VAR_013345 VAR_013345 disease phenotype-associated VAR_013345 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_013346 commonName VAR_013346 VAR_013346 disease phenotype-associated VAR_013346 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_013347 commonName VAR_013347 VAR_013347 disease phenotype-associated VAR_013347 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_013349 commonName VAR_013349 VAR_013349 disease phenotype-associated VAR_013349 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_013350 commonName VAR_013350 VAR_013350 disease phenotype-associated VAR_013350 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_013352 commonName VAR_013352 VAR_013352 disease phenotype-associated VAR_013352 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_013353 commonName VAR_013353 VAR_013353 disease phenotype-associated VAR_013353 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_013354 commonName VAR_013354 VAR_013354 disease phenotype-associated VAR_013354 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_013355 commonName VAR_013355 VAR_013355 disease phenotype-associated VAR_013355 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_013356 commonName VAR_013356 VAR_013356 disease phenotype-associated VAR_013356 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_013357 commonName VAR_013357 VAR_013357 disease phenotype-associated VAR_013357 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_013358 commonName VAR_013358 VAR_013358 disease phenotype-associated VAR_013358 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_013359 commonName VAR_013359 VAR_013359 disease phenotype-associated VAR_013359 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_013360 commonName VAR_013360 VAR_013360 disease phenotype-associated VAR_013360 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_013361 commonName VAR_013361 VAR_013361 disease not phenotype-associated VAR_013362 commonName VAR_013362 VAR_013362 disease not phenotype-associated VAR_013364 commonName VAR_013364 VAR_013364 disease not phenotype-associated VAR_013365 commonName VAR_013365 VAR_013365 disease not phenotype-associated VAR_013366 commonName VAR_013366 VAR_013366 disease not phenotype-associated VAR_013367 commonName VAR_013367 VAR_013367 disease not phenotype-associated VAR_013368 commonName VAR_013368 VAR_013368 disease not phenotype-associated VAR_013369 commonName VAR_013369 VAR_013369 disease not phenotype-associated VAR_013370 commonName VAR_013370 VAR_013370 disease phenotype-associated VAR_013370 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_013371 commonName VAR_013371 VAR_013371 disease phenotype-associated VAR_013371 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_013372 commonName VAR_013372 VAR_013372 disease phenotype-associated VAR_013372 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_013373 commonName VAR_013373 VAR_013373 disease not phenotype-associated VAR_013374 commonName VAR_013374 VAR_013374 disease phenotype-associated VAR_013374 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_013375 commonName VAR_013375 VAR_013375 disease phenotype-associated VAR_013375 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_013376 commonName VAR_013376 VAR_013376 disease not phenotype-associated VAR_013377 commonName VAR_013377 VAR_013377 disease phenotype-associated VAR_013377 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_013378 commonName VAR_013378 VAR_013378 disease phenotype-associated VAR_013378 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_013379 commonName VAR_013379 VAR_013379 disease not phenotype-associated VAR_013380 commonName VAR_013380 VAR_013380 disease phenotype-associated VAR_013380 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_013381 commonName VAR_013381 VAR_013381 disease phenotype-associated VAR_013381 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_013382 commonName VAR_013382 VAR_013382 disease phenotype-associated VAR_013382 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_013383 commonName VAR_013383 VAR_013383 disease not phenotype-associated VAR_013384 commonName VAR_013384 VAR_013384 disease phenotype-associated VAR_013384 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_013385 commonName VAR_013385 VAR_013385 disease phenotype-associated VAR_013385 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_013386 commonName VAR_013386 VAR_013386 disease phenotype-associated VAR_013386 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_013387 commonName VAR_013387 VAR_013387 disease phenotype-associated VAR_013387 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_013388 commonName VAR_013388 VAR_013388 disease phenotype-associated VAR_013388 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_013389 commonName VAR_013389 VAR_013389 disease phenotype-associated VAR_013389 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_013390 commonName VAR_013390 VAR_013390 disease phenotype-associated VAR_013390 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_013391 commonName VAR_013391 VAR_013391 disease phenotype-associated VAR_013391 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_013392 commonName VAR_013392 VAR_013392 disease phenotype-associated VAR_013392 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_013393 commonName VAR_013393 VAR_013393 disease phenotype-associated VAR_013393 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_013394 commonName VAR_013394 VAR_013394 disease phenotype-associated VAR_013394 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_013395 commonName VAR_013395 VAR_013395 disease not phenotype-associated VAR_013396 commonName VAR_013396 VAR_013396 disease not phenotype-associated VAR_013402 commonName VAR_013402 VAR_013402 disease phenotype-associated VAR_013402 phenoCommon Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920] VAR_013403 commonName VAR_013403 VAR_013403 disease phenotype-associated VAR_013403 phenoCommon Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920] VAR_013406 commonName VAR_013406 VAR_013406 disease not phenotype-associated VAR_013407 commonName VAR_013407 VAR_013407 disease not phenotype-associated VAR_013410 commonName VAR_013410 VAR_013410 disease phenotype-associated VAR_013410 phenoCommon Familial hibernian fever (FHF) [MIM:142680] VAR_013411 commonName VAR_013411 VAR_013411 disease phenotype-associated VAR_013411 phenoCommon Familial hibernian fever (FHF) [MIM:142680] VAR_013412 commonName VAR_013412 VAR_013412 disease phenotype-associated VAR_013412 phenoCommon Familial hibernian fever (FHF) [MIM:142680] VAR_013413 commonName VAR_013413 VAR_013413 disease phenotype-associated VAR_013413 phenoCommon Familial hibernian fever (FHF) [MIM:142680] VAR_013414 commonName VAR_013414 VAR_013414 disease phenotype-associated VAR_013414 phenoCommon Familial hibernian fever (FHF) [MIM:142680] VAR_013415 commonName VAR_013415 VAR_013415 disease phenotype-associated VAR_013415 phenoCommon Familial hibernian fever (FHF) [MIM:142680] VAR_013416 comment Non-Hodgkin lymphoma VAR_013416 commonName VAR_013416 VAR_013417 commonName VAR_013417 VAR_013417 disease phenotype-associated VAR_013417 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] VAR_013418 commonName VAR_013418 VAR_013418 disease phenotype-associated VAR_013418 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] VAR_013419 commonName VAR_013419 VAR_013419 disease phenotype-associated VAR_013419 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] VAR_013420 comment Non-Hodgkin lymphoma VAR_013420 commonName VAR_013420 VAR_013421 comment Non-Hodgkin lymphoma VAR_013421 commonName VAR_013421 VAR_013422 comment Non-Hodgkin lymphoma VAR_013422 commonName VAR_013422 VAR_013423 commonName VAR_013423 VAR_013423 disease phenotype-associated VAR_013423 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] VAR_013424 commonName VAR_013424 VAR_013424 disease phenotype-associated VAR_013424 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] VAR_013425 commonName VAR_013425 VAR_013425 disease phenotype-associated VAR_013425 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] VAR_013426 commonName VAR_013426 VAR_013426 disease phenotype-associated VAR_013426 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] VAR_013427 commonName VAR_013427 VAR_013427 disease phenotype-associated VAR_013427 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] VAR_013428 commonName VAR_013428 VAR_013428 disease phenotype-associated VAR_013428 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] VAR_013429 commonName VAR_013429 VAR_013429 disease phenotype-associated VAR_013429 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] VAR_013430 commonName VAR_013430 VAR_013430 disease phenotype-associated VAR_013430 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] VAR_013431 commonName VAR_013431 VAR_013431 disease phenotype-associated VAR_013431 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] VAR_013432 comment Non-Hodgkin lymphoma VAR_013432 commonName VAR_013432 VAR_013433 commonName VAR_013433 VAR_013433 disease phenotype-associated VAR_013433 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] VAR_013434 commonName VAR_013434 VAR_013434 disease phenotype-associated VAR_013434 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] VAR_013435 commonName VAR_013435 VAR_013435 disease phenotype-associated VAR_013435 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] VAR_013436 comment Non-Hodgkin lymphoma VAR_013436 commonName VAR_013436 VAR_013437 comment Non-Hodgkin lymphoma VAR_013437 commonName VAR_013437 VAR_013438 commonName VAR_013438 VAR_013438 disease phenotype-associated VAR_013438 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] VAR_013439 commonName VAR_013439 VAR_013439 disease not phenotype-associated VAR_013442 commonName VAR_013442 VAR_013442 disease not phenotype-associated VAR_013443 commonName VAR_013443 VAR_013443 disease phenotype-associated VAR_013443 phenoCommon Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147] VAR_013444 commonName VAR_013444 VAR_013444 disease phenotype-associated VAR_013444 phenoCommon Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147] VAR_013445 commonName VAR_013445 VAR_013445 disease not phenotype-associated VAR_013446 commonName VAR_013446 VAR_013446 disease not phenotype-associated VAR_013447 commonName VAR_013447 VAR_013447 disease not phenotype-associated VAR_013448 commonName VAR_013448 VAR_013448 disease phenotype-associated VAR_013448 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900] VAR_013449 commonName VAR_013449 VAR_013449 disease phenotype-associated VAR_013449 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900] VAR_013450 commonName VAR_013450 VAR_013450 disease phenotype-associated VAR_013450 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900] VAR_013450 phenoCommon Ectodermal dysplasia type 3 (ED3) [MIM:129490] VAR_013451 commonName VAR_013451 VAR_013451 disease not phenotype-associated VAR_013452 commonName VAR_013452 VAR_013452 disease not phenotype-associated VAR_013453 commonName VAR_013453 VAR_013453 disease not phenotype-associated VAR_013454 commonName VAR_013454 VAR_013454 disease not phenotype-associated VAR_013455 commonName VAR_013455 VAR_013455 disease not phenotype-associated VAR_013456 commonName VAR_013456 VAR_013456 disease not phenotype-associated VAR_013457 commonName VAR_013457 VAR_013457 disease not phenotype-associated VAR_013459 commonName VAR_013459 VAR_013459 disease not phenotype-associated VAR_013460 commonName VAR_013460 VAR_013460 disease phenotype-associated VAR_013460 phenoCommon Nemaline myopathy type 1 (NEM1) [MIM:609284] VAR_013461 commonName VAR_013461 VAR_013461 disease phenotype-associated VAR_013461 phenoCommon Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815] VAR_013463 comment Leukemia VAR_013463 commonName VAR_013463 VAR_013465 comment Leukemia VAR_013465 commonName VAR_013465 VAR_013466 comment Leukemia VAR_013466 commonName VAR_013466 VAR_013467 commonName VAR_013467 VAR_013467 disease not phenotype-associated VAR_013468 commonName VAR_013468 VAR_013468 disease phenotype-associated VAR_013468 phenoCommon Nemaline myopathy type 4 (NEM4) [MIM:609285] VAR_013469 commonName VAR_013469 VAR_013469 disease phenotype-associated VAR_013469 phenoCommon Nemaline myopathy type 4 (NEM4) [MIM:609285] VAR_013470 commonName VAR_013470 VAR_013470 disease phenotype-associated VAR_013470 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_013471 commonName VAR_013471 VAR_013471 disease phenotype-associated VAR_013471 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_013481 commonName VAR_013481 VAR_013481 disease not phenotype-associated VAR_013482 commonName VAR_013482 VAR_013482 disease phenotype-associated VAR_013482 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900] VAR_013483 commonName VAR_013483 VAR_013483 disease not phenotype-associated VAR_013484 commonName VAR_013484 VAR_013484 disease phenotype-associated VAR_013484 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_013485 commonName VAR_013485 VAR_013485 disease phenotype-associated VAR_013485 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_013486 commonName VAR_013486 VAR_013486 disease phenotype-associated VAR_013486 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_013487 commonName VAR_013487 VAR_013487 disease phenotype-associated VAR_013487 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_013488 commonName VAR_013488 VAR_013488 disease phenotype-associated VAR_013488 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_013490 commonName VAR_013490 VAR_013491 commonName VAR_013491 VAR_013492 commonName VAR_013492 VAR_013492 disease not phenotype-associated VAR_013493 commonName VAR_013493 VAR_013493 disease not phenotype-associated VAR_013494 commonName VAR_013494 VAR_013497 commonName VAR_013497 VAR_013497 disease phenotype-associated VAR_013497 phenoCommon Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800] VAR_013498 commonName VAR_013498 VAR_013498 disease phenotype-associated VAR_013498 phenoCommon Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800] VAR_013499 commonName VAR_013499 VAR_013499 disease phenotype-associated VAR_013499 phenoCommon Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800] VAR_013500 commonName VAR_013500 VAR_013500 disease phenotype-associated VAR_013500 phenoCommon Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800] VAR_013501 commonName VAR_013501 VAR_013501 disease phenotype-associated VAR_013501 phenoCommon Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800] VAR_013502 commonName VAR_013502 VAR_013502 disease phenotype-associated VAR_013502 phenoCommon Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800] VAR_013503 commonName VAR_013503 VAR_013503 disease phenotype-associated VAR_013503 phenoCommon Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800] VAR_013504 commonName VAR_013504 VAR_013504 disease not phenotype-associated VAR_013505 commonName VAR_013505 VAR_013505 disease not phenotype-associated VAR_013506 commonName VAR_013506 VAR_013506 disease not phenotype-associated VAR_013507 commonName VAR_013507 VAR_013507 disease not phenotype-associated VAR_013508 commonName VAR_013508 VAR_013508 disease not phenotype-associated VAR_013509 commonName VAR_013509 VAR_013509 disease not phenotype-associated VAR_013510 commonName VAR_013510 VAR_013510 disease not phenotype-associated VAR_013512 commonName VAR_013512 VAR_013512 disease not phenotype-associated VAR_013513 commonName VAR_013513 VAR_013513 disease not phenotype-associated VAR_013515 commonName VAR_013515 VAR_013515 disease not phenotype-associated VAR_013516 commonName VAR_013516 VAR_013516 disease not phenotype-associated VAR_013517 commonName VAR_013517 VAR_013517 disease not phenotype-associated VAR_013518 commonName VAR_013518 VAR_013518 disease phenotype-associated VAR_013518 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_013519 commonName VAR_013519 VAR_013519 disease phenotype-associated VAR_013519 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_013520 commonName VAR_013520 VAR_013520 disease phenotype-associated VAR_013520 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_013521 commonName VAR_013521 VAR_013521 disease phenotype-associated VAR_013521 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_013522 commonName VAR_013522 VAR_013522 disease phenotype-associated VAR_013522 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_013523 commonName VAR_013523 VAR_013523 disease phenotype-associated VAR_013523 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_013524 commonName VAR_013524 VAR_013524 disease phenotype-associated VAR_013524 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_013525 commonName VAR_013525 VAR_013525 disease phenotype-associated VAR_013525 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_013526 commonName VAR_013526 VAR_013526 disease phenotype-associated VAR_013526 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_013527 commonName VAR_013527 VAR_013527 disease phenotype-associated VAR_013527 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_013528 commonName VAR_013528 VAR_013528 disease phenotype-associated VAR_013528 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_013529 commonName VAR_013529 VAR_013529 disease phenotype-associated VAR_013529 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_013530 commonName VAR_013530 VAR_013530 disease phenotype-associated VAR_013530 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_013531 commonName VAR_013531 VAR_013531 disease phenotype-associated VAR_013531 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_013532 commonName VAR_013532 VAR_013532 disease phenotype-associated VAR_013532 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_013533 commonName VAR_013533 VAR_013533 disease phenotype-associated VAR_013533 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_013534 commonName VAR_013534 VAR_013534 disease phenotype-associated VAR_013534 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_013535 commonName VAR_013535 VAR_013535 disease phenotype-associated VAR_013535 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_013536 commonName VAR_013536 VAR_013536 disease phenotype-associated VAR_013536 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_013537 commonName VAR_013537 VAR_013537 disease phenotype-associated VAR_013537 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_013538 commonName VAR_013538 VAR_013538 disease phenotype-associated VAR_013538 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_013539 commonName VAR_013539 VAR_013539 disease phenotype-associated VAR_013539 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_013540 commonName VAR_013540 VAR_013540 disease phenotype-associated VAR_013540 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_013541 commonName VAR_013541 VAR_013541 disease phenotype-associated VAR_013541 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_013542 commonName VAR_013542 VAR_013542 disease phenotype-associated VAR_013542 phenoCommon GM1-gangliosidosis type 2 (GM1G2) [MIM:230600] VAR_013543 commonName VAR_013543 VAR_013543 disease phenotype-associated VAR_013543 phenoCommon GM1-gangliosidosis type 3 (GM1G3) [MIM:230650] VAR_013544 commonName VAR_013544 VAR_013544 disease phenotype-associated VAR_013544 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_013545 commonName VAR_013545 VAR_013545 disease phenotype-associated VAR_013545 phenoCommon GM1-gangliosidosis type 3 (GM1G3) [MIM:230650] VAR_013546 commonName VAR_013546 VAR_013546 disease phenotype-associated VAR_013546 phenoCommon GM1-gangliosidosis type 3 (GM1G3) [MIM:230650] VAR_013547 commonName VAR_013547 VAR_013547 disease phenotype-associated VAR_013547 phenoCommon GM1-gangliosidosis type 3 (GM1G3) [MIM:230650] VAR_013548 commonName VAR_013548 VAR_013548 disease phenotype-associated VAR_013548 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_013548 phenoCommon GM1-gangliosidosis type 3 (GM1G3) [MIM:230650] VAR_013549 commonName VAR_013549 VAR_013549 disease phenotype-associated VAR_013549 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_013550 commonName VAR_013550 VAR_013550 disease phenotype-associated VAR_013550 phenoCommon Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010] VAR_013551 commonName VAR_013551 VAR_013551 disease phenotype-associated VAR_013551 phenoCommon GM1-gangliosidosis type 3 (GM1G3) [MIM:230650] VAR_013551 phenoCommon Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010] VAR_013552 commonName VAR_013552 VAR_013552 disease phenotype-associated VAR_013552 phenoCommon Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010] VAR_013553 commonName VAR_013553 VAR_013553 disease phenotype-associated VAR_013553 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_013554 commonName VAR_013554 VAR_013554 disease phenotype-associated VAR_013554 phenoCommon Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010] VAR_013555 commonName VAR_013555 VAR_013555 disease phenotype-associated VAR_013555 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_013555 phenoCommon GM1-gangliosidosis type 2 (GM1G2) [MIM:230600] VAR_013556 commonName VAR_013556 VAR_013556 disease phenotype-associated VAR_013556 phenoCommon Chediak-Higashi syndrome (CHS) [MIM:214500] VAR_013557 commonName VAR_013557 VAR_013557 disease phenotype-associated VAR_013557 phenoCommon Chediak-Higashi syndrome (CHS) [MIM:214500] VAR_013558 commonName VAR_013558 VAR_013558 disease phenotype-associated VAR_013558 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700] VAR_013559 commonName VAR_013559 VAR_013559 disease not phenotype-associated VAR_013560 commonName VAR_013560 VAR_013560 disease not phenotype-associated VAR_013561 commonName VAR_013561 VAR_013561 disease not phenotype-associated VAR_013562 commonName VAR_013562 VAR_013562 disease not phenotype-associated VAR_013563 commonName VAR_013563 VAR_013563 disease not phenotype-associated VAR_013564 commonName VAR_013564 VAR_013564 disease not phenotype-associated VAR_013565 commonName VAR_013565 VAR_013565 disease phenotype-associated VAR_013565 phenoCommon Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] VAR_013567 commonName VAR_013567 VAR_013567 disease not phenotype-associated VAR_013568 commonName VAR_013568 VAR_013568 disease phenotype-associated VAR_013568 phenoCommon Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] VAR_013569 commonName VAR_013569 VAR_013569 disease phenotype-associated VAR_013569 phenoCommon Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] VAR_013570 commonName VAR_013570 VAR_013570 disease phenotype-associated VAR_013570 phenoCommon Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] VAR_013571 commonName VAR_013571 VAR_013571 disease phenotype-associated VAR_013571 phenoCommon Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] VAR_013572 commonName VAR_013572 VAR_013572 disease not phenotype-associated VAR_013573 commonName VAR_013573 VAR_013573 disease not phenotype-associated VAR_013574 commonName VAR_013574 VAR_013575 commonName VAR_013575 VAR_013576 comment A Burkitt lymphoma VAR_013576 commonName VAR_013576 VAR_013577 commonName VAR_013577 VAR_013577 disease not phenotype-associated VAR_013579 commonName VAR_013579 VAR_013579 disease phenotype-associated VAR_013579 phenoCommon Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000] VAR_013580 commonName VAR_013580 VAR_013580 disease phenotype-associated VAR_013580 phenoCommon Bethlem myopathy (BM) [MIM:158810] VAR_013581 commonName VAR_013581 VAR_013581 disease phenotype-associated VAR_013581 phenoCommon Bethlem myopathy (BM) [MIM:158810] VAR_013582 commonName VAR_013582 VAR_013582 disease phenotype-associated VAR_013582 phenoCommon Bethlem myopathy (BM) [MIM:158810] VAR_013583 commonName VAR_013583 VAR_013583 disease phenotype-associated VAR_013583 phenoCommon Stickler syndrome type 2 (STL2) [MIM:604841] VAR_013584 commonName VAR_013584 VAR_013584 disease phenotype-associated VAR_013584 phenoCommon Stickler syndrome type 2 (STL2) [MIM:604841] VAR_013587 commonName VAR_013587 VAR_013587 disease phenotype-associated VAR_013587 phenoCommon Stickler syndrome type 2 (STL2) [MIM:604841] VAR_013588 commonName VAR_013588 VAR_013588 disease phenotype-associated VAR_013588 phenoCommon Ehlers-Danlos syndrome type 2 (EDS2) [MIM:130010] VAR_013589 commonName VAR_013589 VAR_013589 disease phenotype-associated VAR_013589 phenoCommon Bethlem myopathy (BM) [MIM:158810] VAR_013590 commonName VAR_013590 VAR_013590 disease phenotype-associated VAR_013590 phenoCommon Bethlem myopathy (BM) [MIM:158810] VAR_013598 commonName VAR_013598 VAR_013598 disease phenotype-associated VAR_013598 phenoCommon Prekallikrein deficiency (PKK deficiency) [MIM:612423] VAR_013599 commonName VAR_013599 VAR_013599 disease not phenotype-associated VAR_013600 commonName VAR_013600 VAR_013600 disease not phenotype-associated VAR_013601 commonName VAR_013601 VAR_013601 disease not phenotype-associated VAR_013602 commonName VAR_013602 VAR_013602 disease not phenotype-associated VAR_013603 commonName VAR_013603 VAR_013603 disease not phenotype-associated VAR_013604 commonName VAR_013604 VAR_013604 disease not phenotype-associated VAR_013605 commonName VAR_013605 VAR_013605 disease not phenotype-associated VAR_013606 commonName VAR_013606 VAR_013606 disease not phenotype-associated VAR_013607 commonName VAR_013607 VAR_013607 disease not phenotype-associated VAR_013608 commonName VAR_013608 VAR_013608 disease not phenotype-associated VAR_013609 commonName VAR_013609 VAR_013609 disease not phenotype-associated VAR_013610 commonName VAR_013610 VAR_013610 disease not phenotype-associated VAR_013611 commonName VAR_013611 VAR_013612 commonName VAR_013612 VAR_013612 disease not phenotype-associated VAR_013613 commonName VAR_013613 VAR_013614 commonName VAR_013614 VAR_013614 disease not phenotype-associated VAR_013615 commonName VAR_013615 VAR_013615 disease not phenotype-associated VAR_013616 commonName VAR_013616 VAR_013616 disease not phenotype-associated VAR_013617 commonName VAR_013617 VAR_013617 disease not phenotype-associated VAR_013618 commonName VAR_013618 VAR_013618 disease not phenotype-associated VAR_013619 commonName VAR_013619 VAR_013619 disease phenotype-associated VAR_013619 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500] VAR_013619 phenoCommon Waardenburg syndrome type 3 (WS3) [MIM:148820] VAR_013620 commonName VAR_013620 VAR_013621 commonName VAR_013621 VAR_013621 disease phenotype-associated VAR_013621 phenoCommon Thrombophilia due to activated protein C resistance (THPH2) [MIM:188055] VAR_013622 commonName VAR_013622 VAR_013622 disease not phenotype-associated VAR_013623 commonName VAR_013623 VAR_013623 disease phenotype-associated VAR_013623 phenoCommon Juvenile myelomonocytic leukemia (JMML) [MIM:607785] VAR_013628 commonName VAR_013628 VAR_013628 disease phenotype-associated VAR_013628 phenoCommon Immunodeficiency with hyper-IgM type 3 (HIGM3) [MIM:606843] VAR_013629 commonName VAR_013629 VAR_013629 disease not phenotype-associated VAR_013630 commonName VAR_013630 VAR_013630 disease phenotype-associated VAR_013630 phenoCommon Congenital glucose/galactose malabsorption (GGM) [MIM:606824] VAR_013631 commonName VAR_013631 VAR_013631 disease not phenotype-associated VAR_013632 commonName VAR_013632 VAR_013632 disease not phenotype-associated VAR_013633 commonName VAR_013633 VAR_013633 disease not phenotype-associated VAR_013638 commonName VAR_013638 VAR_013638 disease not phenotype-associated VAR_013639 commonName VAR_013639 VAR_013639 disease not phenotype-associated VAR_013640 commonName VAR_013640 VAR_013640 disease phenotype-associated VAR_013640 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500] VAR_013641 commonName VAR_013641 VAR_013641 disease phenotype-associated VAR_013641 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500] VAR_013642 commonName VAR_013642 VAR_013642 disease phenotype-associated VAR_013642 phenoCommon Juvenile myoclonic epilepsy type 5 (EJM5) [MIM:611136] VAR_013669 commonName VAR_013669 VAR_013669 disease phenotype-associated VAR_013669 phenoCommon Episodic ataxia type 5 (EA5) [MIM:613855] VAR_013670 commonName VAR_013670 VAR_013670 disease phenotype-associated VAR_013670 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600] VAR_013671 commonName VAR_013671 VAR_013671 disease phenotype-associated VAR_013671 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600] VAR_013672 commonName VAR_013672 VAR_013672 disease phenotype-associated VAR_013672 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600] VAR_013673 commonName VAR_013673 VAR_013673 disease phenotype-associated VAR_013673 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600] VAR_013674 commonName VAR_013674 VAR_013674 disease phenotype-associated VAR_013674 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600] VAR_013675 commonName VAR_013675 VAR_013675 disease not phenotype-associated VAR_013676 commonName VAR_013676 VAR_013676 disease phenotype-associated VAR_013676 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600] VAR_013677 commonName VAR_013677 VAR_013677 disease phenotype-associated VAR_013677 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600] VAR_013678 commonName VAR_013678 VAR_013678 disease phenotype-associated VAR_013678 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600] VAR_013679 commonName VAR_013679 VAR_013679 disease phenotype-associated VAR_013679 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600] VAR_013680 commonName VAR_013680 VAR_013680 disease phenotype-associated VAR_013680 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600] VAR_013681 commonName VAR_013681 VAR_013681 disease phenotype-associated VAR_013681 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600] VAR_013682 commonName VAR_013682 VAR_013682 disease phenotype-associated VAR_013682 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600] VAR_013683 commonName VAR_013683 VAR_013683 disease phenotype-associated VAR_013683 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600] VAR_013684 commonName VAR_013684 VAR_013684 disease not phenotype-associated VAR_013685 commonName VAR_013685 VAR_013685 disease not phenotype-associated VAR_013686 commonName VAR_013686 VAR_013686 disease not phenotype-associated VAR_013687 commonName VAR_013687 VAR_013687 disease not phenotype-associated VAR_013688 commonName VAR_013688 VAR_013688 disease not phenotype-associated VAR_013691 commonName VAR_013691 VAR_013691 disease phenotype-associated VAR_013691 phenoCommon Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078] VAR_013692 commonName VAR_013692 VAR_013692 disease phenotype-associated VAR_013692 phenoCommon Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078] VAR_013693 commonName VAR_013693 VAR_013693 disease not phenotype-associated VAR_013694 commonName VAR_013694 VAR_013694 disease not phenotype-associated VAR_013695 commonName VAR_013695 VAR_013695 disease not phenotype-associated VAR_013696 commonName VAR_013696 VAR_013696 disease not phenotype-associated VAR_013697 commonName VAR_013697 VAR_013697 disease not phenotype-associated VAR_013698 commonName VAR_013698 VAR_013698 disease phenotype-associated VAR_013698 phenoCommon Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] VAR_013701 commonName VAR_013701 VAR_013701 disease not phenotype-associated VAR_013702 commonName VAR_013702 VAR_013702 disease not phenotype-associated VAR_013703 commonName VAR_013703 VAR_013703 disease not phenotype-associated VAR_013704 commonName VAR_013704 VAR_013704 disease not phenotype-associated VAR_013705 commonName VAR_013705 VAR_013705 disease not phenotype-associated VAR_013706 commonName VAR_013706 VAR_013706 disease not phenotype-associated VAR_013707 commonName VAR_013707 VAR_013707 disease not phenotype-associated VAR_013708 commonName VAR_013708 VAR_013708 disease not phenotype-associated VAR_013709 commonName VAR_013709 VAR_013709 disease not phenotype-associated VAR_013710 commonName VAR_013710 VAR_013710 disease not phenotype-associated VAR_013711 commonName VAR_013711 VAR_013711 disease not phenotype-associated VAR_013712 commonName VAR_013712 VAR_013712 disease not phenotype-associated VAR_013713 commonName VAR_013713 VAR_013713 disease phenotype-associated VAR_013713 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] VAR_013714 commonName VAR_013714 VAR_013714 disease phenotype-associated VAR_013714 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] VAR_013715 commonName VAR_013715 VAR_013715 disease phenotype-associated VAR_013715 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] VAR_013716 commonName VAR_013716 VAR_013716 disease phenotype-associated VAR_013716 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] VAR_013717 commonName VAR_013717 VAR_013717 disease phenotype-associated VAR_013717 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] VAR_013718 commonName VAR_013718 VAR_013718 disease phenotype-associated VAR_013718 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] VAR_013719 commonName VAR_013719 VAR_013719 disease phenotype-associated VAR_013719 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] VAR_013720 commonName VAR_013720 VAR_013720 disease phenotype-associated VAR_013720 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] VAR_013721 commonName VAR_013721 VAR_013721 disease phenotype-associated VAR_013721 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] VAR_013722 commonName VAR_013722 VAR_013722 disease not phenotype-associated VAR_013723 commonName VAR_013723 VAR_013723 disease phenotype-associated VAR_013723 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] VAR_013724 commonName VAR_013724 VAR_013724 disease phenotype-associated VAR_013724 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] VAR_013725 comment A primary colorectal cancer VAR_013725 commonName VAR_013725 VAR_013726 comment A primary colorectal cancer VAR_013726 commonName VAR_013726 VAR_013727 comment A primary colorectal cancer VAR_013727 commonName VAR_013727 VAR_013729 comment A primary colorectal cancer VAR_013729 commonName VAR_013729 VAR_013730 comment A primary colorectal cancer VAR_013730 commonName VAR_013730 VAR_013732 comment A primary colorectal cancer VAR_013732 commonName VAR_013732 VAR_013733 comment A primary colorectal cancer VAR_013733 commonName VAR_013733 VAR_013734 comment A primary colorectal cancer VAR_013734 commonName VAR_013734 VAR_013735 comment A primary colorectal cancer VAR_013735 commonName VAR_013735 VAR_013736 comment A primary colorectal cancer VAR_013736 commonName VAR_013736 VAR_013737 comment A primary colorectal cancer VAR_013737 commonName VAR_013737 VAR_013738 comment A primary colorectal cancer VAR_013738 commonName VAR_013738 VAR_013740 comment A primary colorectal cancer VAR_013740 commonName VAR_013740 VAR_013741 comment A primary colorectal cancer VAR_013741 commonName VAR_013741 VAR_013742 comment A primary colorectal cancer VAR_013742 commonName VAR_013742 VAR_013743 comment A primary colorectal cancer VAR_013743 commonName VAR_013743 VAR_013744 comment A primary colorectal cancer VAR_013744 commonName VAR_013744 VAR_013746 comment A primary colorectal cancer VAR_013746 commonName VAR_013746 VAR_013747 comment A primary colorectal cancer VAR_013747 commonName VAR_013747 VAR_013748 comment A primary colorectal cancer VAR_013748 commonName VAR_013748 VAR_013749 commonName VAR_013749 VAR_013749 disease not phenotype-associated VAR_013750 commonName VAR_013750 VAR_013750 disease not phenotype-associated VAR_013751 commonName VAR_013751 VAR_013751 disease not phenotype-associated VAR_013754 commonName VAR_013754 VAR_013754 disease phenotype-associated VAR_013754 phenoCommon Oral-facial-digital syndrome type 1 (OFD1) [MIM:311200] VAR_013755 commonName VAR_013755 VAR_013755 disease not phenotype-associated VAR_013756 commonName VAR_013756 VAR_013756 disease not phenotype-associated VAR_013757 commonName VAR_013757 VAR_013757 disease not phenotype-associated VAR_013758 commonName VAR_013758 VAR_013758 disease phenotype-associated VAR_013758 phenoCommon Opitz syndrome type I (OS-I) [MIM:300000] VAR_013764 commonName VAR_013764 VAR_013764 disease not phenotype-associated VAR_013765 commonName VAR_013765 VAR_013765 disease not phenotype-associated VAR_013766 commonName VAR_013766 VAR_013766 disease not phenotype-associated VAR_013767 commonName VAR_013767 VAR_013767 disease not phenotype-associated VAR_013769 commonName VAR_013769 VAR_013769 disease not phenotype-associated VAR_013770 commonName VAR_013770 VAR_013770 disease not phenotype-associated VAR_013771 commonName VAR_013771 VAR_013771 disease not phenotype-associated VAR_013772 commonName VAR_013772 VAR_013772 disease not phenotype-associated VAR_013773 commonName VAR_013773 VAR_013773 disease not phenotype-associated VAR_013774 commonName VAR_013774 VAR_013774 disease phenotype-associated VAR_013774 phenoCommon Immunodeficiency with hyper-IgM type 2 (HIGM2) [MIM:605258] VAR_013775 commonName VAR_013775 VAR_013775 disease phenotype-associated VAR_013775 phenoCommon Immunodeficiency with hyper-IgM type 2 (HIGM2) [MIM:605258] VAR_013776 commonName VAR_013776 VAR_013776 disease phenotype-associated VAR_013776 phenoCommon Immunodeficiency with hyper-IgM type 2 (HIGM2) [MIM:605258] VAR_013777 commonName VAR_013777 VAR_013777 disease phenotype-associated VAR_013777 phenoCommon Immunodeficiency with hyper-IgM type 2 (HIGM2) [MIM:605258] VAR_013778 commonName VAR_013778 VAR_013778 disease phenotype-associated VAR_013778 phenoCommon Immunodeficiency with hyper-IgM type 2 (HIGM2) [MIM:605258] VAR_013779 commonName VAR_013779 VAR_013779 disease not phenotype-associated VAR_013780 commonName VAR_013780 VAR_013780 disease not phenotype-associated VAR_013781 commonName VAR_013781 VAR_013781 disease not phenotype-associated VAR_013782 commonName VAR_013782 VAR_013782 disease not phenotype-associated VAR_013783 commonName VAR_013783 VAR_013783 disease not phenotype-associated VAR_013784 commonName VAR_013784 VAR_013784 disease phenotype-associated VAR_013784 phenoCommon Spherocytosis type 4 (SPH4) [MIM:612653] VAR_013785 commonName VAR_013785 VAR_013785 disease phenotype-associated VAR_013785 phenoCommon Spherocytosis type 4 (SPH4) [MIM:612653] VAR_013786 commonName VAR_013786 VAR_013786 disease phenotype-associated VAR_013786 phenoCommon Spherocytosis type 4 (SPH4) [MIM:612653] VAR_013787 commonName VAR_013787 VAR_013787 disease phenotype-associated VAR_013787 phenoCommon Spherocytosis type 4 (SPH4) [MIM:612653] VAR_013788 commonName VAR_013788 VAR_013789 commonName VAR_013789 VAR_013789 disease phenotype-associated VAR_013789 phenoCommon Spherocytosis type 4 (SPH4) [MIM:612653] VAR_013790 commonName VAR_013790 VAR_013791 commonName VAR_013791 VAR_013791 disease phenotype-associated VAR_013791 phenoCommon Spherocytosis type 4 (SPH4) [MIM:612653] VAR_013792 commonName VAR_013792 VAR_013792 disease phenotype-associated VAR_013792 phenoCommon Spherocytosis type 4 (SPH4) [MIM:612653] VAR_013817 commonName VAR_013817 VAR_013817 disease phenotype-associated VAR_013817 phenoCommon McLeod syndrome (MLS) [MIM:300842] VAR_013818 commonName VAR_013818 VAR_013818 disease phenotype-associated VAR_013818 phenoCommon McLeod syndrome (MLS) [MIM:300842] VAR_013819 commonName VAR_013819 VAR_013819 disease not phenotype-associated VAR_013820 commonName VAR_013820 VAR_013820 disease not phenotype-associated VAR_013821 commonName VAR_013821 VAR_013821 disease not phenotype-associated VAR_013822 commonName VAR_013822 VAR_013822 disease not phenotype-associated VAR_013823 commonName VAR_013823 VAR_013823 disease not phenotype-associated VAR_013824 commonName VAR_013824 VAR_013824 disease not phenotype-associated VAR_013825 commonName VAR_013825 VAR_013825 disease not phenotype-associated VAR_013826 commonName VAR_013826 VAR_013826 disease not phenotype-associated VAR_013827 commonName VAR_013827 VAR_013827 disease not phenotype-associated VAR_013828 commonName VAR_013828 VAR_013828 disease not phenotype-associated VAR_013829 commonName VAR_013829 VAR_013829 disease phenotype-associated VAR_013829 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] VAR_013830 commonName VAR_013830 VAR_013830 disease not phenotype-associated VAR_013831 commonName VAR_013831 VAR_013831 disease not phenotype-associated VAR_013832 commonName VAR_013832 VAR_013832 disease not phenotype-associated VAR_013833 commonName VAR_013833 VAR_013833 disease not phenotype-associated VAR_013835 commonName VAR_013835 VAR_013835 disease not phenotype-associated VAR_013836 commonName VAR_013836 VAR_013836 disease not phenotype-associated VAR_013837 commonName VAR_013837 VAR_013837 disease phenotype-associated VAR_013837 phenoCommon Pachyonychia congenita type 1 (PC1) [MIM:167200] VAR_013838 commonName VAR_013838 VAR_013838 disease phenotype-associated VAR_013838 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_013839 commonName VAR_013839 VAR_013839 disease phenotype-associated VAR_013839 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_013840 commonName VAR_013840 VAR_013840 disease not phenotype-associated VAR_013841 commonName VAR_013841 VAR_013841 disease not phenotype-associated VAR_013842 commonName VAR_013842 VAR_013842 disease phenotype-associated VAR_013842 phenoCommon Patients with hepatocellular carcinoma (HCC) [MIM:114550] VAR_013843 commonName VAR_013843 VAR_013843 disease phenotype-associated VAR_013843 phenoCommon Patients with hepatocellular carcinoma (HCC) [MIM:114550] VAR_013844 commonName VAR_013844 VAR_013844 disease phenotype-associated VAR_013844 phenoCommon Patients with hepatocellular carcinoma (HCC) [MIM:114550] VAR_013845 commonName VAR_013845 VAR_013845 disease phenotype-associated VAR_013845 phenoCommon Patients with hepatocellular carcinoma (HCC) [MIM:114550] VAR_013846 commonName VAR_013846 VAR_013846 disease phenotype-associated VAR_013846 phenoCommon Patients with hepatocellular carcinoma (HCC) [MIM:114550] VAR_013847 commonName VAR_013847 VAR_013847 disease phenotype-associated VAR_013847 phenoCommon Patients with hepatocellular carcinoma (HCC) [MIM:114550] VAR_013848 commonName VAR_013848 VAR_013848 disease phenotype-associated VAR_013848 phenoCommon Patients with hepatocellular carcinoma (HCC) [MIM:114550] VAR_013849 commonName VAR_013849 VAR_013849 disease phenotype-associated VAR_013849 phenoCommon Patients with hepatocellular carcinoma (HCC) [MIM:114550] VAR_013850 commonName VAR_013850 VAR_013850 disease phenotype-associated VAR_013850 phenoCommon Patients with hepatocellular carcinoma (HCC) [MIM:114550] VAR_013864 commonName VAR_013864 VAR_013864 disease not phenotype-associated VAR_013865 commonName VAR_013865 VAR_013865 disease not phenotype-associated VAR_013866 commonName VAR_013866 VAR_013866 disease not phenotype-associated VAR_013867 commonName VAR_013867 VAR_013867 disease phenotype-associated VAR_013867 phenoCommon Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500] VAR_013868 commonName VAR_013868 VAR_013868 disease phenotype-associated VAR_013868 phenoCommon Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500] VAR_013869 commonName VAR_013869 VAR_013869 disease phenotype-associated VAR_013869 phenoCommon Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500] VAR_013870 commonName VAR_013870 VAR_013870 disease phenotype-associated VAR_013870 phenoCommon Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500] VAR_013871 commonName VAR_013871 VAR_013871 disease phenotype-associated VAR_013871 phenoCommon Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500] VAR_013872 commonName VAR_013872 VAR_013872 disease phenotype-associated VAR_013872 phenoCommon Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500] VAR_013873 commonName VAR_013873 VAR_013873 disease phenotype-associated VAR_013873 phenoCommon Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500] VAR_013874 commonName VAR_013874 VAR_013874 disease phenotype-associated VAR_013874 phenoCommon Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500] VAR_013875 commonName VAR_013875 VAR_013875 disease phenotype-associated VAR_013875 phenoCommon Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500] VAR_013876 commonName VAR_013876 VAR_013876 disease phenotype-associated VAR_013876 phenoCommon Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500] VAR_013877 commonName VAR_013877 VAR_013877 disease phenotype-associated VAR_013877 phenoCommon Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500] VAR_013878 commonName VAR_013878 VAR_013878 disease phenotype-associated VAR_013878 phenoCommon Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500] VAR_013879 commonName VAR_013879 VAR_013879 disease phenotype-associated VAR_013879 phenoCommon Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500] VAR_013880 commonName VAR_013880 VAR_013880 disease phenotype-associated VAR_013880 phenoCommon Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500] VAR_013881 commonName VAR_013881 VAR_013881 disease phenotype-associated VAR_013881 phenoCommon Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500] VAR_013882 commonName VAR_013882 VAR_013882 disease phenotype-associated VAR_013882 phenoCommon Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500] VAR_013883 commonName VAR_013883 VAR_013883 disease not phenotype-associated VAR_013884 commonName VAR_013884 VAR_013884 disease not phenotype-associated VAR_013885 commonName VAR_013885 VAR_013885 disease not phenotype-associated VAR_013886 commonName VAR_013886 VAR_013886 disease not phenotype-associated VAR_013887 commonName VAR_013887 VAR_013887 disease not phenotype-associated VAR_013888 commonName VAR_013888 VAR_013888 disease not phenotype-associated VAR_013889 commonName VAR_013889 VAR_013889 disease not phenotype-associated VAR_013890 commonName VAR_013890 VAR_013890 disease not phenotype-associated VAR_013891 commonName VAR_013891 VAR_013891 disease not phenotype-associated VAR_013892 commonName VAR_013892 VAR_013892 disease not phenotype-associated VAR_013893 commonName VAR_013893 VAR_013893 disease not phenotype-associated VAR_013894 commonName VAR_013894 VAR_013894 disease not phenotype-associated VAR_013895 commonName VAR_013895 VAR_013895 disease not phenotype-associated VAR_013896 commonName VAR_013896 VAR_013896 disease not phenotype-associated VAR_013897 commonName VAR_013897 VAR_013897 disease not phenotype-associated VAR_013898 commonName VAR_013898 VAR_013898 disease not phenotype-associated VAR_013899 commonName VAR_013899 VAR_013899 disease not phenotype-associated VAR_013900 commonName VAR_013900 VAR_013900 disease not phenotype-associated VAR_013901 commonName VAR_013901 VAR_013901 disease not phenotype-associated VAR_013902 commonName VAR_013902 VAR_013902 disease not phenotype-associated VAR_013903 commonName VAR_013903 VAR_013903 disease not phenotype-associated VAR_013904 commonName VAR_013904 VAR_013904 disease not phenotype-associated VAR_013905 commonName VAR_013905 VAR_013905 disease not phenotype-associated VAR_013906 commonName VAR_013906 VAR_013906 disease not phenotype-associated VAR_013907 commonName VAR_013907 VAR_013907 disease not phenotype-associated VAR_013914 commonName VAR_013914 VAR_013914 disease not phenotype-associated VAR_013915 commonName VAR_013915 VAR_013915 disease not phenotype-associated VAR_013916 commonName VAR_013916 VAR_013916 disease not phenotype-associated VAR_013917 commonName VAR_013917 VAR_013917 disease not phenotype-associated VAR_013918 commonName VAR_013918 VAR_013918 disease not phenotype-associated VAR_013919 commonName VAR_013919 VAR_013919 disease not phenotype-associated VAR_013920 commonName VAR_013920 VAR_013920 disease not phenotype-associated VAR_013921 commonName VAR_013921 VAR_013921 disease not phenotype-associated VAR_013922 commonName VAR_013922 VAR_013922 disease not phenotype-associated VAR_013923 commonName VAR_013923 VAR_013923 disease not phenotype-associated VAR_013924 commonName VAR_013924 VAR_013924 disease not phenotype-associated VAR_013925 commonName VAR_013925 VAR_013925 disease not phenotype-associated VAR_013926 commonName VAR_013926 VAR_013926 disease not phenotype-associated VAR_013927 commonName VAR_013927 VAR_013927 disease not phenotype-associated VAR_013928 commonName VAR_013928 VAR_013928 disease not phenotype-associated VAR_013929 commonName VAR_013929 VAR_013929 disease not phenotype-associated VAR_013930 commonName VAR_013930 VAR_013930 disease not phenotype-associated VAR_013931 commonName VAR_013931 VAR_013931 disease not phenotype-associated VAR_013932 commonName VAR_013932 VAR_013932 disease not phenotype-associated VAR_013933 commonName VAR_013933 VAR_013933 disease not phenotype-associated VAR_013934 commonName VAR_013934 VAR_013934 disease not phenotype-associated VAR_013935 commonName VAR_013935 VAR_013935 disease not phenotype-associated VAR_013936 commonName VAR_013936 VAR_013936 disease not phenotype-associated VAR_013937 commonName VAR_013937 VAR_013937 disease not phenotype-associated VAR_013938 commonName VAR_013938 VAR_013939 commonName VAR_013939 VAR_013939 disease phenotype-associated VAR_013939 phenoCommon Laron syndrome (LARS) [MIM:262500] VAR_013943 commonName VAR_013943 VAR_013943 disease not phenotype-associated VAR_013944 commonName VAR_013944 VAR_013944 disease not phenotype-associated VAR_013945 commonName VAR_013945 VAR_013945 disease not phenotype-associated VAR_013946 commonName VAR_013946 VAR_013946 disease not phenotype-associated VAR_013947 commonName VAR_013947 VAR_013947 disease not phenotype-associated VAR_013948 commonName VAR_013948 VAR_013948 disease not phenotype-associated VAR_013949 commonName VAR_013949 VAR_013949 disease phenotype-associated VAR_013949 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_013950 commonName VAR_013950 VAR_013951 commonName VAR_013951 VAR_013951 disease phenotype-associated VAR_013951 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_013952 commonName VAR_013952 VAR_013953 commonName VAR_013953 VAR_013953 disease phenotype-associated VAR_013953 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_013954 commonName VAR_013954 VAR_013956 commonName VAR_013956 VAR_013956 disease phenotype-associated VAR_013956 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200] VAR_013957 commonName VAR_013957 VAR_013957 disease phenotype-associated VAR_013957 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200] VAR_013958 commonName VAR_013958 VAR_013958 disease phenotype-associated VAR_013958 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200] VAR_013959 commonName VAR_013959 VAR_013959 disease phenotype-associated VAR_013959 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200] VAR_013960 commonName VAR_013960 VAR_013960 disease not phenotype-associated VAR_013961 commonName VAR_013961 VAR_013961 disease phenotype-associated VAR_013961 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200] VAR_013962 commonName VAR_013962 VAR_013962 disease not phenotype-associated VAR_013963 commonName VAR_013963 VAR_013963 disease phenotype-associated VAR_013963 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200] VAR_013964 commonName VAR_013964 VAR_013964 disease phenotype-associated VAR_013964 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200] VAR_013970 commonName VAR_013970 VAR_013971 commonName VAR_013971 VAR_013972 commonName VAR_013972 VAR_013972 disease phenotype-associated VAR_013972 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_013973 commonName VAR_013973 VAR_013973 disease phenotype-associated VAR_013973 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_013974 commonName VAR_013974 VAR_013974 disease phenotype-associated VAR_013974 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_013975 commonName VAR_013975 VAR_013975 disease phenotype-associated VAR_013975 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_013976 commonName VAR_013976 VAR_013976 disease phenotype-associated VAR_013976 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_013977 commonName VAR_013977 VAR_013977 disease phenotype-associated VAR_013977 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_013978 commonName VAR_013978 VAR_013978 disease phenotype-associated VAR_013978 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_013979 commonName VAR_013979 VAR_013979 disease phenotype-associated VAR_013979 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_013980 commonName VAR_013980 VAR_013980 disease phenotype-associated VAR_013980 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_013981 commonName VAR_013981 VAR_013981 disease phenotype-associated VAR_013981 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_013982 commonName VAR_013982 VAR_013982 disease phenotype-associated VAR_013982 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_013983 commonName VAR_013983 VAR_013983 disease phenotype-associated VAR_013983 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_013984 commonName VAR_013984 VAR_013984 disease phenotype-associated VAR_013984 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_013985 commonName VAR_013985 VAR_013985 disease phenotype-associated VAR_013985 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_013986 commonName VAR_013986 VAR_013986 disease phenotype-associated VAR_013986 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_013987 commonName VAR_013987 VAR_013987 disease phenotype-associated VAR_013987 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_013988 commonName VAR_013988 VAR_013988 disease phenotype-associated VAR_013988 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_013989 commonName VAR_013989 VAR_013989 disease phenotype-associated VAR_013989 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_013990 commonName VAR_013990 VAR_013990 disease phenotype-associated VAR_013990 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_013991 commonName VAR_013991 VAR_013991 disease phenotype-associated VAR_013991 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_013992 commonName VAR_013992 VAR_013992 disease phenotype-associated VAR_013992 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_013993 commonName VAR_013993 VAR_013993 disease phenotype-associated VAR_013993 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_013994 commonName VAR_013994 VAR_013994 disease phenotype-associated VAR_013994 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_013995 commonName VAR_013995 VAR_013995 disease phenotype-associated VAR_013995 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_013996 commonName VAR_013996 VAR_013996 disease phenotype-associated VAR_013996 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_013997 commonName VAR_013997 VAR_013997 disease phenotype-associated VAR_013997 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_013998 commonName VAR_013998 VAR_013998 disease phenotype-associated VAR_013998 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_013999 commonName VAR_013999 VAR_013999 disease phenotype-associated VAR_013999 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_014000 commonName VAR_014000 VAR_014000 disease phenotype-associated VAR_014000 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_014001 commonName VAR_014001 VAR_014001 disease phenotype-associated VAR_014001 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_014002 commonName VAR_014002 VAR_014002 disease phenotype-associated VAR_014002 phenoCommon Glycogen storage disease type 5 (GSD5) [MIM:232600] VAR_014003 commonName VAR_014003 VAR_014003 disease phenotype-associated VAR_014003 phenoCommon Glycogen storage disease type 5 (GSD5) [MIM:232600] VAR_014004 commonName VAR_014004 VAR_014004 disease phenotype-associated VAR_014004 phenoCommon Glycogen storage disease type 5 (GSD5) [MIM:232600] VAR_014005 commonName VAR_014005 VAR_014005 disease phenotype-associated VAR_014005 phenoCommon Glycogen storage disease type 5 (GSD5) [MIM:232600] VAR_014006 commonName VAR_014006 VAR_014006 disease phenotype-associated VAR_014006 phenoCommon Glycogen storage disease type 5 (GSD5) [MIM:232600] VAR_014007 commonName VAR_014007 VAR_014007 disease phenotype-associated VAR_014007 phenoCommon Glycogen storage disease type 5 (GSD5) [MIM:232600] VAR_014008 commonName VAR_014008 VAR_014008 disease phenotype-associated VAR_014008 phenoCommon Glycogen storage disease type 5 (GSD5) [MIM:232600] VAR_014009 commonName VAR_014009 VAR_014009 disease phenotype-associated VAR_014009 phenoCommon Glycogen storage disease type 5 (GSD5) [MIM:232600] VAR_014010 commonName VAR_014010 VAR_014010 disease phenotype-associated VAR_014010 phenoCommon Glycogen storage disease type 5 (GSD5) [MIM:232600] VAR_014011 commonName VAR_014011 VAR_014011 disease phenotype-associated VAR_014011 phenoCommon Glycogen storage disease type 5 (GSD5) [MIM:232600] VAR_014012 commonName VAR_014012 VAR_014012 disease phenotype-associated VAR_014012 phenoCommon Glycogen storage disease type 5 (GSD5) [MIM:232600] VAR_014013 commonName VAR_014013 VAR_014013 disease phenotype-associated VAR_014013 phenoCommon Glycogen storage disease type 5 (GSD5) [MIM:232600] VAR_014015 commonName VAR_014015 VAR_014015 disease phenotype-associated VAR_014015 phenoCommon Glycogen storage disease type 5 (GSD5) [MIM:232600] VAR_014016 commonName VAR_014016 VAR_014016 disease not phenotype-associated VAR_014017 commonName VAR_014017 VAR_014017 disease not phenotype-associated VAR_014018 commonName VAR_014018 VAR_014018 disease not phenotype-associated VAR_014019 commonName VAR_014019 VAR_014019 disease phenotype-associated VAR_014019 phenoCommon Abetalipoproteinemia (ABL) [MIM:200100] VAR_014020 commonName VAR_014020 VAR_014020 disease phenotype-associated VAR_014020 phenoCommon Ichthyosis X-linked (IXL) [MIM:308100] VAR_014021 commonName VAR_014021 VAR_014021 disease phenotype-associated VAR_014021 phenoCommon Ichthyosis X-linked (IXL) [MIM:308100] VAR_014022 commonName VAR_014022 VAR_014022 disease phenotype-associated VAR_014022 phenoCommon Ichthyosis X-linked (IXL) [MIM:308100] VAR_014023 commonName VAR_014023 VAR_014023 disease phenotype-associated VAR_014023 phenoCommon Ichthyosis X-linked (IXL) [MIM:308100] VAR_014025 commonName VAR_014025 VAR_014025 disease not phenotype-associated VAR_014026 commonName VAR_014026 VAR_014026 disease phenotype-associated VAR_014026 phenoCommon Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] VAR_014027 commonName VAR_014027 VAR_014027 disease phenotype-associated VAR_014027 phenoCommon Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] VAR_014028 commonName VAR_014028 VAR_014028 disease phenotype-associated VAR_014028 phenoCommon Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] VAR_014029 commonName VAR_014029 VAR_014029 disease phenotype-associated VAR_014029 phenoCommon Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] VAR_014030 commonName VAR_014030 VAR_014030 disease phenotype-associated VAR_014030 phenoCommon Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] VAR_014031 commonName VAR_014031 VAR_014031 disease phenotype-associated VAR_014031 phenoCommon Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] VAR_014032 commonName VAR_014032 VAR_014032 disease phenotype-associated VAR_014032 phenoCommon Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] VAR_014033 commonName VAR_014033 VAR_014033 disease not phenotype-associated VAR_014034 commonName VAR_014034 VAR_014034 disease phenotype-associated VAR_014034 phenoCommon Wolfram syndrome type 1 (WFS1) [MIM:222300] VAR_014037 commonName VAR_014037 VAR_014038 commonName VAR_014038 VAR_014038 disease phenotype-associated VAR_014038 phenoCommon Wolfram syndrome type 1 (WFS1) [MIM:222300] VAR_014039 commonName VAR_014039 VAR_014039 disease phenotype-associated VAR_014039 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_014040 commonName VAR_014040 VAR_014040 disease phenotype-associated VAR_014040 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_014041 commonName VAR_014041 VAR_014041 disease phenotype-associated VAR_014041 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_014042 commonName VAR_014042 VAR_014042 disease not phenotype-associated VAR_014043 commonName VAR_014043 VAR_014043 disease not phenotype-associated VAR_014044 commonName VAR_014044 VAR_014044 disease phenotype-associated VAR_014044 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_014045 commonName VAR_014045 VAR_014045 disease not phenotype-associated VAR_014046 commonName VAR_014046 VAR_014046 disease phenotype-associated VAR_014046 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_014047 commonName VAR_014047 VAR_014047 disease not phenotype-associated VAR_014048 commonName VAR_014048 VAR_014048 disease phenotype-associated VAR_014048 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_014049 commonName VAR_014049 VAR_014049 disease not phenotype-associated VAR_014050 commonName VAR_014050 VAR_014050 disease phenotype-associated VAR_014050 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_014051 commonName VAR_014051 VAR_014051 disease phenotype-associated VAR_014051 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_014052 commonName VAR_014052 VAR_014052 disease phenotype-associated VAR_014052 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_014053 commonName VAR_014053 VAR_014053 disease phenotype-associated VAR_014053 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_014054 commonName VAR_014054 VAR_014054 disease phenotype-associated VAR_014054 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_014055 commonName VAR_014055 VAR_014055 disease phenotype-associated VAR_014055 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_014056 commonName VAR_014056 VAR_014056 disease phenotype-associated VAR_014056 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_014057 commonName VAR_014057 VAR_014057 disease not phenotype-associated VAR_014058 commonName VAR_014058 VAR_014058 disease phenotype-associated VAR_014058 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_014059 commonName VAR_014059 VAR_014059 disease phenotype-associated VAR_014059 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_014060 commonName VAR_014060 VAR_014060 disease not phenotype-associated VAR_014061 commonName VAR_014061 VAR_014061 disease phenotype-associated VAR_014061 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_014062 commonName VAR_014062 VAR_014062 disease not phenotype-associated VAR_014063 commonName VAR_014063 VAR_014063 disease not phenotype-associated VAR_014064 commonName VAR_014064 VAR_014064 disease not phenotype-associated VAR_014065 commonName VAR_014065 VAR_014065 disease not phenotype-associated VAR_014066 commonName VAR_014066 VAR_014067 commonName VAR_014067 VAR_014067 disease not phenotype-associated VAR_014069 commonName VAR_014069 VAR_014071 commonName VAR_014071 VAR_014071 disease phenotype-associated VAR_014071 phenoCommon Autoimmune lymphoproliferative syndrome type 2A (ALPS2A) [MIM:603909] VAR_014072 commonName VAR_014072 VAR_014072 disease not phenotype-associated VAR_014073 commonName VAR_014073 VAR_014073 disease not phenotype-associated VAR_014074 commonName VAR_014074 VAR_014074 disease not phenotype-associated VAR_014075 commonName VAR_014075 VAR_014075 disease not phenotype-associated VAR_014076 commonName VAR_014076 VAR_014076 disease not phenotype-associated VAR_014077 commonName VAR_014077 VAR_014077 disease phenotype-associated VAR_014077 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_014078 commonName VAR_014078 VAR_014078 disease not phenotype-associated VAR_014079 commonName VAR_014079 VAR_014079 disease not phenotype-associated VAR_014080 commonName VAR_014080 VAR_014080 disease not phenotype-associated VAR_014081 commonName VAR_014081 VAR_014081 disease not phenotype-associated VAR_014082 commonName VAR_014082 VAR_014082 disease not phenotype-associated VAR_014083 commonName VAR_014083 VAR_014083 disease not phenotype-associated VAR_014091 commonName VAR_014091 VAR_014091 disease not phenotype-associated VAR_014094 commonName VAR_014094 VAR_014094 disease not phenotype-associated VAR_014095 commonName VAR_014095 VAR_014095 disease not phenotype-associated VAR_014096 commonName VAR_014096 VAR_014096 disease not phenotype-associated VAR_014097 commonName VAR_014097 VAR_014097 disease not phenotype-associated VAR_014098 commonName VAR_014098 VAR_014098 disease not phenotype-associated VAR_014099 commonName VAR_014099 VAR_014099 disease not phenotype-associated VAR_014100 commonName VAR_014100 VAR_014100 disease not phenotype-associated VAR_014101 commonName VAR_014101 VAR_014101 disease not phenotype-associated VAR_014103 commonName VAR_014103 VAR_014103 disease phenotype-associated VAR_014103 phenoCommon Microcephaly Amish type (MCPHA) [MIM:607196] VAR_014104 commonName VAR_014104 VAR_014104 disease phenotype-associated VAR_014104 phenoCommon Familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100] VAR_014104 phenoCommon Muckle-Wells syndrome (MWS) [MIM:191900] VAR_014105 commonName VAR_014105 VAR_014105 disease phenotype-associated VAR_014105 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] VAR_014105 phenoCommon Muckle-Wells syndrome (MWS) [MIM:191900] VAR_014106 commonName VAR_014106 VAR_014106 disease phenotype-associated VAR_014106 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] VAR_014107 commonName VAR_014107 VAR_014107 disease phenotype-associated VAR_014107 phenoCommon Muckle-Wells syndrome (MWS) [MIM:191900] VAR_014108 commonName VAR_014108 VAR_014108 disease phenotype-associated VAR_014108 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] VAR_014109 commonName VAR_014109 VAR_014109 disease not phenotype-associated VAR_014110 commonName VAR_014110 VAR_014110 disease phenotype-associated VAR_014110 phenoCommon Barth syndrome (BTHS) [MIM:302060] VAR_014111 commonName VAR_014111 VAR_014111 disease phenotype-associated VAR_014111 phenoCommon Barth syndrome (BTHS) [MIM:302060] VAR_014112 commonName VAR_014112 VAR_014112 disease phenotype-associated VAR_014112 phenoCommon Barth syndrome (BTHS) [MIM:302060] VAR_014113 comment A melanoma patient VAR_014113 commonName VAR_014113 VAR_014114 commonName VAR_014114 VAR_014114 disease not phenotype-associated VAR_014115 commonName VAR_014115 VAR_014115 disease not phenotype-associated VAR_014116 commonName VAR_014116 VAR_014116 disease phenotype-associated VAR_014116 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_014117 commonName VAR_014117 VAR_014117 disease phenotype-associated VAR_014117 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_014122 commonName VAR_014122 VAR_014122 disease phenotype-associated VAR_014122 phenoCommon Schwartz-Jampel syndrome (SJS1) [MIM:255800] VAR_014123 commonName VAR_014123 VAR_014123 disease not phenotype-associated VAR_014124 commonName VAR_014124 VAR_014124 disease phenotype-associated VAR_014124 phenoCommon Familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100] VAR_014124 phenoCommon Muckle-Wells syndrome (MWS) [MIM:191900] VAR_014125 commonName VAR_014125 VAR_014125 disease phenotype-associated VAR_014125 phenoCommon Deafness autosomal dominant type 36 (DFNA36) [MIM:606705] VAR_014127 commonName VAR_014127 VAR_014127 disease not phenotype-associated VAR_014128 commonName VAR_014128 VAR_014128 disease not phenotype-associated VAR_014129 commonName VAR_014129 VAR_014129 disease not phenotype-associated VAR_014130 commonName VAR_014130 VAR_014130 disease not phenotype-associated VAR_014131 commonName VAR_014131 VAR_014131 disease not phenotype-associated VAR_014132 commonName VAR_014132 VAR_014132 disease not phenotype-associated VAR_014133 commonName VAR_014133 VAR_014133 disease not phenotype-associated VAR_014134 commonName VAR_014134 VAR_014134 disease not phenotype-associated VAR_014135 commonName VAR_014135 VAR_014135 disease not phenotype-associated VAR_014136 commonName VAR_014136 VAR_014136 disease not phenotype-associated VAR_014137 commonName VAR_014137 VAR_014137 disease not phenotype-associated VAR_014138 commonName VAR_014138 VAR_014138 disease not phenotype-associated VAR_014139 commonName VAR_014139 VAR_014139 disease not phenotype-associated VAR_014140 commonName VAR_014140 VAR_014140 disease not phenotype-associated VAR_014141 commonName VAR_014141 VAR_014141 disease phenotype-associated VAR_014141 phenoCommon Increased susceptibility for ossification of the posterior longitudinal ligament of the spine (OPLL) [MIM:602475] VAR_014142 commonName VAR_014142 VAR_014142 disease not phenotype-associated VAR_014143 commonName VAR_014143 VAR_014143 disease phenotype-associated VAR_014143 phenoCommon Increased susceptibility for ossification of the posterior longitudinal ligament of the spine (OPLL) [MIM:602475] VAR_014144 commonName VAR_014144 VAR_014144 disease not phenotype-associated VAR_014145 commonName VAR_014145 VAR_014145 disease not phenotype-associated VAR_014146 commonName VAR_014146 VAR_014146 disease not phenotype-associated VAR_014147 commonName VAR_014147 VAR_014147 disease not phenotype-associated VAR_014148 commonName VAR_014148 VAR_014148 disease not phenotype-associated VAR_014149 commonName VAR_014149 VAR_014149 disease not phenotype-associated VAR_014150 commonName VAR_014150 VAR_014150 disease not phenotype-associated VAR_014151 commonName VAR_014151 VAR_014151 disease not phenotype-associated VAR_014152 commonName VAR_014152 VAR_014152 disease not phenotype-associated VAR_014153 commonName VAR_014153 VAR_014153 disease not phenotype-associated VAR_014154 commonName VAR_014154 VAR_014154 disease not phenotype-associated VAR_014155 commonName VAR_014155 VAR_014155 disease not phenotype-associated VAR_014156 commonName VAR_014156 VAR_014156 disease not phenotype-associated VAR_014157 commonName VAR_014157 VAR_014157 disease not phenotype-associated VAR_014158 commonName VAR_014158 VAR_014158 disease not phenotype-associated VAR_014159 commonName VAR_014159 VAR_014159 disease not phenotype-associated VAR_014160 commonName VAR_014160 VAR_014160 disease not phenotype-associated VAR_014161 commonName VAR_014161 VAR_014161 disease not phenotype-associated VAR_014162 commonName VAR_014162 VAR_014162 disease not phenotype-associated VAR_014163 commonName VAR_014163 VAR_014163 disease not phenotype-associated VAR_014164 commonName VAR_014164 VAR_014164 disease not phenotype-associated VAR_014165 commonName VAR_014165 VAR_014165 disease not phenotype-associated VAR_014166 commonName VAR_014166 VAR_014166 disease not phenotype-associated VAR_014167 commonName VAR_014167 VAR_014167 disease not phenotype-associated VAR_014168 commonName VAR_014168 VAR_014168 disease not phenotype-associated VAR_014169 commonName VAR_014169 VAR_014169 disease not phenotype-associated VAR_014170 commonName VAR_014170 VAR_014170 disease not phenotype-associated VAR_014171 commonName VAR_014171 VAR_014171 disease not phenotype-associated VAR_014172 commonName VAR_014172 VAR_014172 disease not phenotype-associated VAR_014173 commonName VAR_014173 VAR_014173 disease not phenotype-associated VAR_014174 commonName VAR_014174 VAR_014174 disease not phenotype-associated VAR_014175 commonName VAR_014175 VAR_014175 disease not phenotype-associated VAR_014176 commonName VAR_014176 VAR_014176 disease not phenotype-associated VAR_014177 commonName VAR_014177 VAR_014177 disease not phenotype-associated VAR_014178 commonName VAR_014178 VAR_014178 disease not phenotype-associated VAR_014179 commonName VAR_014179 VAR_014179 disease not phenotype-associated VAR_014180 commonName VAR_014180 VAR_014180 disease not phenotype-associated VAR_014181 commonName VAR_014181 VAR_014181 disease not phenotype-associated VAR_014182 commonName VAR_014182 VAR_014182 disease not phenotype-associated VAR_014183 commonName VAR_014183 VAR_014183 disease not phenotype-associated VAR_014186 commonName VAR_014186 VAR_014186 disease not phenotype-associated VAR_014187 commonName VAR_014187 VAR_014187 disease not phenotype-associated VAR_014189 commonName VAR_014189 VAR_014189 disease not phenotype-associated VAR_014190 commonName VAR_014190 VAR_014190 disease not phenotype-associated VAR_014191 commonName VAR_014191 VAR_014191 disease not phenotype-associated VAR_014192 commonName VAR_014192 VAR_014192 disease not phenotype-associated VAR_014197 commonName VAR_014197 VAR_014197 disease phenotype-associated VAR_014197 phenoCommon Familial hypertrophic cardiomyopathy (CMH) [MIM:192600] VAR_014198 commonName VAR_014198 VAR_014198 disease phenotype-associated VAR_014198 phenoCommon Familial hypertrophic cardiomyopathy (CMH) [MIM:192600] VAR_014199 commonName VAR_014199 VAR_014199 disease phenotype-associated VAR_014199 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_014200 commonName VAR_014200 VAR_014200 disease not phenotype-associated VAR_014201 commonName VAR_014201 VAR_014201 disease not phenotype-associated VAR_014204 commonName VAR_014204 VAR_014204 disease phenotype-associated VAR_014204 phenoCommon Caspase-8 deficiency (CASP8D) [MIM:607271] VAR_014208 commonName VAR_014208 VAR_014208 disease phenotype-associated VAR_014208 phenoCommon Colon cancer VAR_014209 commonName VAR_014209 VAR_014209 disease phenotype-associated VAR_014209 phenoCommon Colon cancer VAR_014210 commonName VAR_014210 VAR_014210 disease not phenotype-associated VAR_014211 commonName VAR_014211 VAR_014211 disease not phenotype-associated VAR_014212 commonName VAR_014212 VAR_014212 disease not phenotype-associated VAR_014213 commonName VAR_014213 VAR_014213 disease not phenotype-associated VAR_014214 commonName VAR_014214 VAR_014214 disease not phenotype-associated VAR_014215 commonName VAR_014215 VAR_014215 disease phenotype-associated VAR_014215 phenoCommon Alzheimer disease type 1 (AD1) [MIM:104300] VAR_014216 commonName VAR_014216 VAR_014216 disease phenotype-associated VAR_014216 phenoCommon Cerebral amyloid angiopathy APP-related (CAA-APP) [MIM:605714] VAR_014217 commonName VAR_014217 VAR_014217 disease phenotype-associated VAR_014217 phenoCommon Cerebral amyloid angiopathy APP-related (CAA-APP) [MIM:605714] VAR_014218 commonName VAR_014218 VAR_014218 disease phenotype-associated VAR_014218 phenoCommon Alzheimer disease type 1 (AD1) [MIM:104300] VAR_014219 commonName VAR_014219 VAR_014219 disease phenotype-associated VAR_014219 phenoCommon Alzheimer disease type 1 (AD1) [MIM:104300] VAR_014220 commonName VAR_014220 VAR_014220 disease not phenotype-associated VAR_014221 comment A non-small cell lung cancer cell line VAR_014221 commonName VAR_014221 VAR_014222 comment A non-small cell lung cancer cell line VAR_014222 commonName VAR_014222 VAR_014224 comment Non-small cell lung cancer cell lines VAR_014224 commonName VAR_014224 VAR_014225 comment Non-small cell lung cancer cell lines VAR_014225 commonName VAR_014225 VAR_014226 comment A non-small cell lung cancer cell line VAR_014226 commonName VAR_014226 VAR_014227 comment Non-small cell lung cancer cell lines VAR_014227 commonName VAR_014227 VAR_014229 commonName VAR_014229 VAR_014229 disease not phenotype-associated VAR_014230 commonName VAR_014230 VAR_014230 disease not phenotype-associated VAR_014231 commonName VAR_014231 VAR_014231 disease not phenotype-associated VAR_014232 commonName VAR_014232 VAR_014232 disease not phenotype-associated VAR_014236 commonName VAR_014236 VAR_014236 disease phenotype-associated VAR_014236 phenoCommon Adrenal hyperplasia type 1 (AH1) [MIM:201710] VAR_014237 commonName VAR_014237 VAR_014237 disease phenotype-associated VAR_014237 phenoCommon Adrenal hyperplasia type 1 (AH1) [MIM:201710] VAR_014238 commonName VAR_014238 VAR_014238 disease phenotype-associated VAR_014238 phenoCommon Adrenal hyperplasia type 1 (AH1) [MIM:201710] VAR_014239 commonName VAR_014239 VAR_014239 disease phenotype-associated VAR_014239 phenoCommon Adrenal hyperplasia type 1 (AH1) [MIM:201710] VAR_014240 commonName VAR_014240 VAR_014240 disease phenotype-associated VAR_014240 phenoCommon Adrenal hyperplasia type 1 (AH1) [MIM:201710] VAR_014242 commonName VAR_014242 VAR_014242 disease phenotype-associated VAR_014242 phenoCommon Adrenal hyperplasia type 1 (AH1) [MIM:201710] VAR_014243 commonName VAR_014243 VAR_014243 disease phenotype-associated VAR_014243 phenoCommon Keratoconus type 1 (KTCN1) [MIM:148300] VAR_014243 phenoCommon Posterior polymorphous corneal dystrophy type 1 (PPCD1) [MIM:122000] VAR_014244 commonName VAR_014244 VAR_014244 disease phenotype-associated VAR_014244 phenoCommon Keratoconus type 1 (KTCN1) [MIM:148300] VAR_014245 commonName VAR_014245 VAR_014245 disease phenotype-associated VAR_014245 phenoCommon Posterior polymorphous corneal dystrophy type 1 (PPCD1) [MIM:122000] VAR_014246 commonName VAR_014246 VAR_014246 disease phenotype-associated VAR_014246 phenoCommon Keratoconus type 1 (KTCN1) [MIM:148300] VAR_014247 commonName VAR_014247 VAR_014248 commonName VAR_014248 VAR_014249 commonName VAR_014249 VAR_014249 disease not phenotype-associated VAR_014250 commonName VAR_014250 VAR_014250 disease not phenotype-associated VAR_014251 commonName VAR_014251 VAR_014251 disease not phenotype-associated VAR_014252 commonName VAR_014252 VAR_014252 disease not phenotype-associated VAR_014253 commonName VAR_014253 VAR_014253 disease not phenotype-associated VAR_014254 commonName VAR_014254 VAR_014254 disease not phenotype-associated VAR_014255 commonName VAR_014255 VAR_014255 disease not phenotype-associated VAR_014256 commonName VAR_014256 VAR_014256 disease not phenotype-associated VAR_014257 commonName VAR_014257 VAR_014257 disease not phenotype-associated VAR_014258 commonName VAR_014258 VAR_014258 disease not phenotype-associated VAR_014259 commonName VAR_014259 VAR_014259 disease not phenotype-associated VAR_014260 commonName VAR_014260 VAR_014260 disease not phenotype-associated VAR_014261 commonName VAR_014261 VAR_014261 disease not phenotype-associated VAR_014262 commonName VAR_014262 VAR_014262 disease not phenotype-associated VAR_014263 commonName VAR_014263 VAR_014263 disease not phenotype-associated VAR_014264 commonName VAR_014264 VAR_014264 disease phenotype-associated VAR_014264 phenoCommon Gerstmann-Straussler disease (GSD) [MIM:137440] VAR_014265 commonName VAR_014265 VAR_014265 disease phenotype-associated VAR_014265 phenoCommon Childhood absence epilepsy type 2 (ECA2) [MIM:607681] VAR_014265 phenoCommon Familial febrile convulsions type 8 (FEB8) [MIM:611277] VAR_014266 commonName VAR_014266 VAR_014266 disease phenotype-associated VAR_014266 phenoCommon Generalized epilepsy with febrile seizures plus type 3 (GEFS+3) [MIM:611277] VAR_014267 commonName VAR_014267 VAR_014267 disease phenotype-associated VAR_014267 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] VAR_014268 commonName VAR_014268 VAR_014268 disease phenotype-associated VAR_014268 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_014269 commonName VAR_014269 VAR_014269 disease not phenotype-associated VAR_014270 commonName VAR_014270 VAR_014270 disease phenotype-associated VAR_014270 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] VAR_014271 commonName VAR_014271 VAR_014271 disease phenotype-associated VAR_014271 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] VAR_014272 commonName VAR_014272 VAR_014272 disease phenotype-associated VAR_014272 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] VAR_014273 commonName VAR_014273 VAR_014273 disease phenotype-associated VAR_014273 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] VAR_014274 commonName VAR_014274 VAR_014274 disease not phenotype-associated VAR_014277 commonName VAR_014277 VAR_014277 disease not phenotype-associated VAR_014278 commonName VAR_014278 VAR_014279 commonName VAR_014279 VAR_014280 commonName VAR_014280 VAR_014281 commonName VAR_014281 VAR_014281 disease not phenotype-associated VAR_014282 commonName VAR_014282 VAR_014283 commonName VAR_014283 VAR_014283 disease not phenotype-associated VAR_014284 commonName VAR_014284 VAR_014284 disease not phenotype-associated VAR_014287 commonName VAR_014287 VAR_014287 disease not phenotype-associated VAR_014290 commonName VAR_014290 VAR_014290 disease not phenotype-associated VAR_014291 commonName VAR_014291 VAR_014291 disease not phenotype-associated VAR_014292 commonName VAR_014292 VAR_014292 disease not phenotype-associated VAR_014293 commonName VAR_014293 VAR_014293 disease not phenotype-associated VAR_014294 commonName VAR_014294 VAR_014294 disease not phenotype-associated VAR_014295 commonName VAR_014295 VAR_014295 disease not phenotype-associated VAR_014296 commonName VAR_014296 VAR_014296 disease not phenotype-associated VAR_014297 commonName VAR_014297 VAR_014298 commonName VAR_014298 VAR_014298 disease not phenotype-associated VAR_014299 commonName VAR_014299 VAR_014299 disease not phenotype-associated VAR_014300 commonName VAR_014300 VAR_014300 disease not phenotype-associated VAR_014301 commonName VAR_014301 VAR_014301 disease not phenotype-associated VAR_014302 commonName VAR_014302 VAR_014302 disease not phenotype-associated VAR_014303 commonName VAR_014303 VAR_014303 disease not phenotype-associated VAR_014304 commonName VAR_014304 VAR_014304 disease not phenotype-associated VAR_014305 commonName VAR_014305 VAR_014305 disease not phenotype-associated VAR_014306 commonName VAR_014306 VAR_014306 disease not phenotype-associated VAR_014307 commonName VAR_014307 VAR_014307 disease not phenotype-associated VAR_014308 commonName VAR_014308 VAR_014308 disease not phenotype-associated VAR_014309 commonName VAR_014309 VAR_014309 disease not phenotype-associated VAR_014310 commonName VAR_014310 VAR_014310 disease not phenotype-associated VAR_014311 commonName VAR_014311 VAR_014311 disease not phenotype-associated VAR_014312 commonName VAR_014312 VAR_014312 disease not phenotype-associated VAR_014313 commonName VAR_014313 VAR_014313 disease not phenotype-associated VAR_014314 commonName VAR_014314 VAR_014314 disease not phenotype-associated VAR_014316 commonName VAR_014316 VAR_014316 disease not phenotype-associated VAR_014317 commonName VAR_014317 VAR_014317 disease not phenotype-associated VAR_014318 commonName VAR_014318 VAR_014318 disease not phenotype-associated VAR_014319 commonName VAR_014319 VAR_014319 disease not phenotype-associated VAR_014320 commonName VAR_014320 VAR_014320 disease not phenotype-associated VAR_014321 commonName VAR_014321 VAR_014321 disease not phenotype-associated VAR_014322 commonName VAR_014322 VAR_014322 disease not phenotype-associated VAR_014323 commonName VAR_014323 VAR_014323 disease not phenotype-associated VAR_014325 commonName VAR_014325 VAR_014325 disease not phenotype-associated VAR_014326 commonName VAR_014326 VAR_014326 disease not phenotype-associated VAR_014327 commonName VAR_014327 VAR_014327 disease not phenotype-associated VAR_014328 commonName VAR_014328 VAR_014328 disease not phenotype-associated VAR_014329 commonName VAR_014329 VAR_014329 disease not phenotype-associated VAR_014330 commonName VAR_014330 VAR_014330 disease not phenotype-associated VAR_014331 commonName VAR_014331 VAR_014331 disease not phenotype-associated VAR_014332 commonName VAR_014332 VAR_014332 disease not phenotype-associated VAR_014333 commonName VAR_014333 VAR_014333 disease not phenotype-associated VAR_014334 commonName VAR_014334 VAR_014334 disease not phenotype-associated VAR_014335 commonName VAR_014335 VAR_014335 disease not phenotype-associated VAR_014336 commonName VAR_014336 VAR_014336 disease not phenotype-associated VAR_014337 commonName VAR_014337 VAR_014337 disease not phenotype-associated VAR_014338 commonName VAR_014338 VAR_014338 disease not phenotype-associated VAR_014339 commonName VAR_014339 VAR_014339 disease not phenotype-associated VAR_014340 commonName VAR_014340 VAR_014340 disease not phenotype-associated VAR_014345 commonName VAR_014345 VAR_014345 disease not phenotype-associated VAR_014346 commonName VAR_014346 VAR_014346 disease not phenotype-associated VAR_014348 commonName VAR_014348 VAR_014348 disease not phenotype-associated VAR_014349 commonName VAR_014349 VAR_014349 disease not phenotype-associated VAR_014350 commonName VAR_014350 VAR_014350 disease not phenotype-associated VAR_014351 commonName VAR_014351 VAR_014351 disease not phenotype-associated VAR_014352 commonName VAR_014352 VAR_014352 disease not phenotype-associated VAR_014353 commonName VAR_014353 VAR_014353 disease not phenotype-associated VAR_014354 commonName VAR_014354 VAR_014354 disease not phenotype-associated VAR_014355 commonName VAR_014355 VAR_014355 disease not phenotype-associated VAR_014356 commonName VAR_014356 VAR_014356 disease not phenotype-associated VAR_014357 commonName VAR_014357 VAR_014357 disease not phenotype-associated VAR_014359 commonName VAR_014359 VAR_014359 disease not phenotype-associated VAR_014360 commonName VAR_014360 VAR_014360 disease not phenotype-associated VAR_014361 commonName VAR_014361 VAR_014361 disease not phenotype-associated VAR_014362 commonName VAR_014362 VAR_014362 disease not phenotype-associated VAR_014363 commonName VAR_014363 VAR_014363 disease phenotype-associated VAR_014363 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100] VAR_014364 commonName VAR_014364 VAR_014364 disease phenotype-associated VAR_014364 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100] VAR_014365 commonName VAR_014365 VAR_014365 disease phenotype-associated VAR_014365 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100] VAR_014366 commonName VAR_014366 VAR_014366 disease phenotype-associated VAR_014366 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] VAR_014366 phenoCommon Muckle-Wells syndrome (MWS) [MIM:191900] VAR_014367 commonName VAR_014367 VAR_014367 disease phenotype-associated VAR_014367 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] VAR_014368 commonName VAR_014368 VAR_014368 disease phenotype-associated VAR_014368 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] VAR_014369 commonName VAR_014369 VAR_014369 disease phenotype-associated VAR_014369 phenoCommon Muckle-Wells syndrome (MWS) [MIM:191900] VAR_014370 commonName VAR_014370 VAR_014370 disease phenotype-associated VAR_014370 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] VAR_014371 commonName VAR_014371 VAR_014371 disease phenotype-associated VAR_014371 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_014373 commonName VAR_014373 VAR_014373 disease phenotype-associated VAR_014373 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_014374 commonName VAR_014374 VAR_014374 disease phenotype-associated VAR_014374 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_014375 commonName VAR_014375 VAR_014375 disease phenotype-associated VAR_014375 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_014376 commonName VAR_014376 VAR_014376 disease phenotype-associated VAR_014376 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_014377 commonName VAR_014377 VAR_014377 disease phenotype-associated VAR_014377 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_014378 commonName VAR_014378 VAR_014378 disease phenotype-associated VAR_014378 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_014379 commonName VAR_014379 VAR_014379 disease phenotype-associated VAR_014379 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_014380 commonName VAR_014380 VAR_014380 disease phenotype-associated VAR_014380 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_014382 commonName VAR_014382 VAR_014382 disease phenotype-associated VAR_014382 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_014383 commonName VAR_014383 VAR_014383 disease phenotype-associated VAR_014383 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_014384 commonName VAR_014384 VAR_014384 disease phenotype-associated VAR_014384 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_014385 commonName VAR_014385 VAR_014385 disease phenotype-associated VAR_014385 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_014386 commonName VAR_014386 VAR_014386 disease phenotype-associated VAR_014386 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_014387 commonName VAR_014387 VAR_014387 disease phenotype-associated VAR_014387 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_014391 commonName VAR_014391 VAR_014391 disease phenotype-associated VAR_014391 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_014392 commonName VAR_014392 VAR_014392 disease phenotype-associated VAR_014392 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_014401 commonName VAR_014401 VAR_014401 disease not phenotype-associated VAR_014402 commonName VAR_014402 VAR_014402 disease not phenotype-associated VAR_014403 commonName VAR_014403 VAR_014403 disease not phenotype-associated VAR_014404 commonName VAR_014404 VAR_014404 disease not phenotype-associated VAR_014405 commonName VAR_014405 VAR_014405 disease phenotype-associated VAR_014405 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_014406 commonName VAR_014406 VAR_014406 disease phenotype-associated VAR_014406 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_014407 commonName VAR_014407 VAR_014407 disease phenotype-associated VAR_014407 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_014408 commonName VAR_014408 VAR_014408 disease phenotype-associated VAR_014408 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_014409 commonName VAR_014409 VAR_014409 disease phenotype-associated VAR_014409 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_014410 commonName VAR_014410 VAR_014410 disease phenotype-associated VAR_014410 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_014411 commonName VAR_014411 VAR_014411 disease phenotype-associated VAR_014411 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_014412 commonName VAR_014412 VAR_014412 disease phenotype-associated VAR_014412 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_014413 commonName VAR_014413 VAR_014413 disease phenotype-associated VAR_014413 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_014414 commonName VAR_014414 VAR_014414 disease phenotype-associated VAR_014414 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_014415 commonName VAR_014415 VAR_014415 disease phenotype-associated VAR_014415 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_014416 commonName VAR_014416 VAR_014416 disease phenotype-associated VAR_014416 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_014417 commonName VAR_014417 VAR_014417 disease phenotype-associated VAR_014417 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_014418 commonName VAR_014418 VAR_014418 disease phenotype-associated VAR_014418 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_014419 commonName VAR_014419 VAR_014419 disease phenotype-associated VAR_014419 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_014420 commonName VAR_014420 VAR_014420 disease phenotype-associated VAR_014420 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_014421 commonName VAR_014421 VAR_014421 disease phenotype-associated VAR_014421 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] VAR_014422 commonName VAR_014422 VAR_014422 disease phenotype-associated VAR_014422 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] VAR_014423 commonName VAR_014423 VAR_014423 disease phenotype-associated VAR_014423 phenoCommon Lathosterolosis (LATHST) [MIM:607330] VAR_014424 commonName VAR_014424 VAR_014424 disease phenotype-associated VAR_014424 phenoCommon Lathosterolosis (LATHST) [MIM:607330] VAR_014426 commonName VAR_014426 VAR_014426 disease phenotype-associated VAR_014426 phenoCommon Factor XII deficiency (FA12D) [MIM:234000] VAR_014427 commonName VAR_014427 VAR_014427 disease not phenotype-associated VAR_014428 comment A breast cancer sample VAR_014428 commonName VAR_014428 VAR_014429 comment A breast cancer sample VAR_014429 commonName VAR_014429 VAR_014430 comment A pancreatic cancer sample VAR_014430 commonName VAR_014430 VAR_014431 comment A colorectal cancer sample VAR_014431 commonName VAR_014431 VAR_014432 commonName VAR_014432 VAR_014432 disease not phenotype-associated VAR_014433 commonName VAR_014433 VAR_014433 disease not phenotype-associated VAR_014434 commonName VAR_014434 VAR_014434 disease not phenotype-associated VAR_014435 commonName VAR_014435 VAR_014435 disease not phenotype-associated VAR_014436 commonName VAR_014436 VAR_014436 disease not phenotype-associated VAR_014437 commonName VAR_014437 VAR_014437 disease not phenotype-associated VAR_014438 commonName VAR_014438 VAR_014438 disease not phenotype-associated VAR_014439 commonName VAR_014439 VAR_014439 disease not phenotype-associated VAR_014444 commonName VAR_014444 VAR_014444 disease not phenotype-associated VAR_014445 commonName VAR_014445 VAR_014445 disease not phenotype-associated VAR_014446 commonName VAR_014446 VAR_014446 disease not phenotype-associated VAR_014447 commonName VAR_014447 VAR_014447 disease not phenotype-associated VAR_014448 commonName VAR_014448 VAR_014448 disease not phenotype-associated VAR_014449 commonName VAR_014449 VAR_014449 disease not phenotype-associated VAR_014450 commonName VAR_014450 VAR_014450 disease not phenotype-associated VAR_014451 commonName VAR_014451 VAR_014451 disease not phenotype-associated VAR_014452 commonName VAR_014452 VAR_014452 disease not phenotype-associated VAR_014453 commonName VAR_014453 VAR_014453 disease not phenotype-associated VAR_014454 commonName VAR_014454 VAR_014454 disease not phenotype-associated VAR_014455 commonName VAR_014455 VAR_014455 disease not phenotype-associated VAR_014456 commonName VAR_014456 VAR_014456 disease not phenotype-associated VAR_014458 commonName VAR_014458 VAR_014458 disease not phenotype-associated VAR_014459 commonName VAR_014459 VAR_014459 disease not phenotype-associated VAR_014461 commonName VAR_014461 VAR_014461 disease not phenotype-associated VAR_014462 commonName VAR_014462 VAR_014462 disease not phenotype-associated VAR_014463 commonName VAR_014463 VAR_014463 disease not phenotype-associated VAR_014464 commonName VAR_014464 VAR_014464 disease not phenotype-associated VAR_014465 commonName VAR_014465 VAR_014465 disease not phenotype-associated VAR_014466 commonName VAR_014466 VAR_014466 disease not phenotype-associated VAR_014467 commonName VAR_014467 VAR_014467 disease not phenotype-associated VAR_014468 commonName VAR_014468 VAR_014468 disease not phenotype-associated VAR_014469 commonName VAR_014469 VAR_014469 disease not phenotype-associated VAR_014472 commonName VAR_014472 VAR_014472 disease not phenotype-associated VAR_014473 commonName VAR_014473 VAR_014473 disease not phenotype-associated VAR_014474 commonName VAR_014474 VAR_014474 disease not phenotype-associated VAR_014475 commonName VAR_014475 VAR_014475 disease not phenotype-associated VAR_014476 commonName VAR_014476 VAR_014476 disease not phenotype-associated VAR_014477 commonName VAR_014477 VAR_014477 disease not phenotype-associated VAR_014479 commonName VAR_014479 VAR_014479 disease not phenotype-associated VAR_014480 commonName VAR_014480 VAR_014480 disease not phenotype-associated VAR_014481 commonName VAR_014481 VAR_014481 disease not phenotype-associated VAR_014482 commonName VAR_014482 VAR_014482 disease not phenotype-associated VAR_014483 commonName VAR_014483 VAR_014483 disease not phenotype-associated VAR_014484 commonName VAR_014484 VAR_014484 disease not phenotype-associated VAR_014485 commonName VAR_014485 VAR_014485 disease not phenotype-associated VAR_014486 commonName VAR_014486 VAR_014486 disease not phenotype-associated VAR_014487 commonName VAR_014487 VAR_014487 disease not phenotype-associated VAR_014488 commonName VAR_014488 VAR_014488 disease not phenotype-associated VAR_014489 commonName VAR_014489 VAR_014489 disease not phenotype-associated VAR_014490 commonName VAR_014490 VAR_014490 disease not phenotype-associated VAR_014491 commonName VAR_014491 VAR_014491 disease not phenotype-associated VAR_014492 commonName VAR_014492 VAR_014492 disease not phenotype-associated VAR_014493 commonName VAR_014493 VAR_014493 disease not phenotype-associated VAR_014494 commonName VAR_014494 VAR_014494 disease not phenotype-associated VAR_014495 commonName VAR_014495 VAR_014495 disease not phenotype-associated VAR_014496 commonName VAR_014496 VAR_014496 disease not phenotype-associated VAR_014497 commonName VAR_014497 VAR_014497 disease not phenotype-associated VAR_014499 commonName VAR_014499 VAR_014499 disease not phenotype-associated VAR_014500 commonName VAR_014500 VAR_014500 disease not phenotype-associated VAR_014501 commonName VAR_014501 VAR_014501 disease not phenotype-associated VAR_014505 commonName VAR_014505 VAR_014505 disease not phenotype-associated VAR_014506 commonName VAR_014506 VAR_014506 disease not phenotype-associated VAR_014507 commonName VAR_014507 VAR_014507 disease not phenotype-associated VAR_014508 commonName VAR_014508 VAR_014508 disease not phenotype-associated VAR_014509 commonName VAR_014509 VAR_014509 disease not phenotype-associated VAR_014510 commonName VAR_014510 VAR_014510 disease not phenotype-associated VAR_014511 commonName VAR_014511 VAR_014511 disease not phenotype-associated VAR_014512 commonName VAR_014512 VAR_014512 disease not phenotype-associated VAR_014513 commonName VAR_014513 VAR_014513 disease not phenotype-associated VAR_014514 commonName VAR_014514 VAR_014514 disease not phenotype-associated VAR_014515 commonName VAR_014515 VAR_014515 disease not phenotype-associated VAR_014516 commonName VAR_014516 VAR_014516 disease not phenotype-associated VAR_014517 commonName VAR_014517 VAR_014517 disease not phenotype-associated VAR_014518 commonName VAR_014518 VAR_014518 disease not phenotype-associated VAR_014519 commonName VAR_014519 VAR_014519 disease not phenotype-associated VAR_014520 commonName VAR_014520 VAR_014520 disease not phenotype-associated VAR_014521 commonName VAR_014521 VAR_014521 disease not phenotype-associated VAR_014523 commonName VAR_014523 VAR_014523 disease not phenotype-associated VAR_014524 commonName VAR_014524 VAR_014524 disease not phenotype-associated VAR_014525 commonName VAR_014525 VAR_014525 disease not phenotype-associated VAR_014526 commonName VAR_014526 VAR_014526 disease not phenotype-associated VAR_014527 commonName VAR_014527 VAR_014527 disease not phenotype-associated VAR_014528 commonName VAR_014528 VAR_014528 disease not phenotype-associated VAR_014529 commonName VAR_014529 VAR_014529 disease not phenotype-associated VAR_014530 commonName VAR_014530 VAR_014530 disease not phenotype-associated VAR_014531 commonName VAR_014531 VAR_014531 disease not phenotype-associated VAR_014532 commonName VAR_014532 VAR_014532 disease not phenotype-associated VAR_014533 commonName VAR_014533 VAR_014533 disease not phenotype-associated VAR_014534 commonName VAR_014534 VAR_014534 disease not phenotype-associated VAR_014535 commonName VAR_014535 VAR_014535 disease not phenotype-associated VAR_014536 commonName VAR_014536 VAR_014536 disease not phenotype-associated VAR_014537 commonName VAR_014537 VAR_014537 disease not phenotype-associated VAR_014538 commonName VAR_014538 VAR_014538 disease not phenotype-associated VAR_014539 commonName VAR_014539 VAR_014539 disease not phenotype-associated VAR_014540 commonName VAR_014540 VAR_014540 disease not phenotype-associated VAR_014541 commonName VAR_014541 VAR_014541 disease not phenotype-associated VAR_014542 commonName VAR_014542 VAR_014542 disease not phenotype-associated VAR_014543 commonName VAR_014543 VAR_014543 disease not phenotype-associated VAR_014544 commonName VAR_014544 VAR_014544 disease not phenotype-associated VAR_014545 commonName VAR_014545 VAR_014545 disease not phenotype-associated VAR_014546 commonName VAR_014546 VAR_014546 disease not phenotype-associated VAR_014547 commonName VAR_014547 VAR_014547 disease not phenotype-associated VAR_014548 commonName VAR_014548 VAR_014548 disease not phenotype-associated VAR_014554 commonName VAR_014554 VAR_014554 disease not phenotype-associated VAR_014555 commonName VAR_014555 VAR_014555 disease not phenotype-associated VAR_014556 commonName VAR_014556 VAR_014556 disease not phenotype-associated VAR_014557 commonName VAR_014557 VAR_014557 disease not phenotype-associated VAR_014558 commonName VAR_014558 VAR_014558 disease not phenotype-associated VAR_014559 commonName VAR_014559 VAR_014559 disease not phenotype-associated VAR_014560 commonName VAR_014560 VAR_014560 disease not phenotype-associated VAR_014561 commonName VAR_014561 VAR_014561 disease not phenotype-associated VAR_014562 commonName VAR_014562 VAR_014562 disease not phenotype-associated VAR_014563 commonName VAR_014563 VAR_014563 disease not phenotype-associated VAR_014564 commonName VAR_014564 VAR_014564 disease not phenotype-associated VAR_014565 commonName VAR_014565 VAR_014565 disease not phenotype-associated VAR_014566 commonName VAR_014566 VAR_014566 disease not phenotype-associated VAR_014567 commonName VAR_014567 VAR_014567 disease not phenotype-associated VAR_014568 commonName VAR_014568 VAR_014568 disease not phenotype-associated VAR_014569 commonName VAR_014569 VAR_014569 disease not phenotype-associated VAR_014570 commonName VAR_014570 VAR_014570 disease not phenotype-associated VAR_014571 commonName VAR_014571 VAR_014571 disease not phenotype-associated VAR_014573 commonName VAR_014573 VAR_014573 disease not phenotype-associated VAR_014574 commonName VAR_014574 VAR_014574 disease not phenotype-associated VAR_014578 commonName VAR_014578 VAR_014578 disease not phenotype-associated VAR_014579 commonName VAR_014579 VAR_014579 disease not phenotype-associated VAR_014580 commonName VAR_014580 VAR_014580 disease not phenotype-associated VAR_014581 commonName VAR_014581 VAR_014581 disease not phenotype-associated VAR_014582 commonName VAR_014582 VAR_014582 disease not phenotype-associated VAR_014583 commonName VAR_014583 VAR_014583 disease not phenotype-associated VAR_014584 commonName VAR_014584 VAR_014584 disease not phenotype-associated VAR_014585 commonName VAR_014585 VAR_014585 disease not phenotype-associated VAR_014586 commonName VAR_014586 VAR_014586 disease not phenotype-associated VAR_014587 commonName VAR_014587 VAR_014587 disease not phenotype-associated VAR_014588 commonName VAR_014588 VAR_014588 disease not phenotype-associated VAR_014589 commonName VAR_014589 VAR_014589 disease not phenotype-associated VAR_014590 commonName VAR_014590 VAR_014590 disease not phenotype-associated VAR_014591 commonName VAR_014591 VAR_014591 disease not phenotype-associated VAR_014592 commonName VAR_014592 VAR_014592 disease not phenotype-associated VAR_014593 commonName VAR_014593 VAR_014593 disease not phenotype-associated VAR_014594 commonName VAR_014594 VAR_014594 disease not phenotype-associated VAR_014595 commonName VAR_014595 VAR_014595 disease not phenotype-associated VAR_014596 commonName VAR_014596 VAR_014596 disease not phenotype-associated VAR_014597 commonName VAR_014597 VAR_014597 disease not phenotype-associated VAR_014598 commonName VAR_014598 VAR_014598 disease not phenotype-associated VAR_014599 commonName VAR_014599 VAR_014599 disease not phenotype-associated VAR_014600 commonName VAR_014600 VAR_014600 disease not phenotype-associated VAR_014601 commonName VAR_014601 VAR_014601 disease not phenotype-associated VAR_014605 commonName VAR_014605 VAR_014605 disease not phenotype-associated VAR_014606 commonName VAR_014606 VAR_014606 disease not phenotype-associated VAR_014607 commonName VAR_014607 VAR_014607 disease not phenotype-associated VAR_014608 commonName VAR_014608 VAR_014608 disease not phenotype-associated VAR_014609 commonName VAR_014609 VAR_014609 disease not phenotype-associated VAR_014610 commonName VAR_014610 VAR_014610 disease not phenotype-associated VAR_014611 commonName VAR_014611 VAR_014611 disease not phenotype-associated VAR_014612 commonName VAR_014612 VAR_014612 disease not phenotype-associated VAR_014613 commonName VAR_014613 VAR_014613 disease not phenotype-associated VAR_014614 commonName VAR_014614 VAR_014614 disease not phenotype-associated VAR_014620 commonName VAR_014620 VAR_014620 disease not phenotype-associated VAR_014621 commonName VAR_014621 VAR_014621 disease not phenotype-associated VAR_014622 commonName VAR_014622 VAR_014622 disease not phenotype-associated VAR_014627 commonName VAR_014627 VAR_014627 disease not phenotype-associated VAR_014628 commonName VAR_014628 VAR_014628 disease not phenotype-associated VAR_014629 commonName VAR_014629 VAR_014629 disease not phenotype-associated VAR_014630 commonName VAR_014630 VAR_014630 disease not phenotype-associated VAR_014632 commonName VAR_014632 VAR_014632 disease not phenotype-associated VAR_014634 commonName VAR_014634 VAR_014634 disease not phenotype-associated VAR_014635 commonName VAR_014635 VAR_014635 disease not phenotype-associated VAR_014636 commonName VAR_014636 VAR_014636 disease not phenotype-associated VAR_014638 commonName VAR_014638 VAR_014638 disease not phenotype-associated VAR_014639 commonName VAR_014639 VAR_014639 disease not phenotype-associated VAR_014640 commonName VAR_014640 VAR_014640 disease not phenotype-associated VAR_014641 commonName VAR_014641 VAR_014641 disease not phenotype-associated VAR_014642 commonName VAR_014642 VAR_014642 disease not phenotype-associated VAR_014643 commonName VAR_014643 VAR_014643 disease not phenotype-associated VAR_014644 commonName VAR_014644 VAR_014644 disease not phenotype-associated VAR_014645 commonName VAR_014645 VAR_014645 disease not phenotype-associated VAR_014646 commonName VAR_014646 VAR_014646 disease not phenotype-associated VAR_014647 commonName VAR_014647 VAR_014647 disease not phenotype-associated VAR_014648 commonName VAR_014648 VAR_014648 disease not phenotype-associated VAR_014649 commonName VAR_014649 VAR_014649 disease not phenotype-associated VAR_014651 commonName VAR_014651 VAR_014651 disease not phenotype-associated VAR_014652 commonName VAR_014652 VAR_014652 disease not phenotype-associated VAR_014653 commonName VAR_014653 VAR_014653 disease not phenotype-associated VAR_014654 commonName VAR_014654 VAR_014654 disease not phenotype-associated VAR_014655 commonName VAR_014655 VAR_014655 disease not phenotype-associated VAR_014656 commonName VAR_014656 VAR_014656 disease not phenotype-associated VAR_014657 commonName VAR_014657 VAR_014657 disease not phenotype-associated VAR_014658 commonName VAR_014658 VAR_014658 disease not phenotype-associated VAR_014659 commonName VAR_014659 VAR_014659 disease not phenotype-associated VAR_014660 commonName VAR_014660 VAR_014660 disease not phenotype-associated VAR_014661 commonName VAR_014661 VAR_014661 disease not phenotype-associated VAR_014662 commonName VAR_014662 VAR_014662 disease not phenotype-associated VAR_014664 commonName VAR_014664 VAR_014664 disease not phenotype-associated VAR_014665 commonName VAR_014665 VAR_014665 disease not phenotype-associated VAR_014666 commonName VAR_014666 VAR_014666 disease phenotype-associated VAR_014666 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_014667 commonName VAR_014667 VAR_014667 disease not phenotype-associated VAR_014668 commonName VAR_014668 VAR_014668 disease not phenotype-associated VAR_014669 commonName VAR_014669 VAR_014669 disease not phenotype-associated VAR_014670 commonName VAR_014670 VAR_014670 disease not phenotype-associated VAR_014671 commonName VAR_014671 VAR_014671 disease not phenotype-associated VAR_014672 commonName VAR_014672 VAR_014672 disease not phenotype-associated VAR_014673 commonName VAR_014673 VAR_014673 disease not phenotype-associated VAR_014675 commonName VAR_014675 VAR_014675 disease not phenotype-associated VAR_014676 commonName VAR_014676 VAR_014676 disease not phenotype-associated VAR_014677 commonName VAR_014677 VAR_014677 disease not phenotype-associated VAR_014678 commonName VAR_014678 VAR_014678 disease not phenotype-associated VAR_014679 commonName VAR_014679 VAR_014679 disease not phenotype-associated VAR_014680 commonName VAR_014680 VAR_014680 disease not phenotype-associated VAR_014681 commonName VAR_014681 VAR_014681 disease not phenotype-associated VAR_014682 commonName VAR_014682 VAR_014682 disease not phenotype-associated VAR_014683 commonName VAR_014683 VAR_014683 disease not phenotype-associated VAR_014684 commonName VAR_014684 VAR_014684 disease not phenotype-associated VAR_014685 commonName VAR_014685 VAR_014685 disease not phenotype-associated VAR_014686 commonName VAR_014686 VAR_014686 disease not phenotype-associated VAR_014687 commonName VAR_014687 VAR_014687 disease not phenotype-associated VAR_014688 commonName VAR_014688 VAR_014688 disease not phenotype-associated VAR_014689 commonName VAR_014689 VAR_014689 disease not phenotype-associated VAR_014690 commonName VAR_014690 VAR_014690 disease not phenotype-associated VAR_014691 commonName VAR_014691 VAR_014691 disease not phenotype-associated VAR_014692 commonName VAR_014692 VAR_014692 disease not phenotype-associated VAR_014693 commonName VAR_014693 VAR_014693 disease not phenotype-associated VAR_014694 commonName VAR_014694 VAR_014694 disease not phenotype-associated VAR_014695 commonName VAR_014695 VAR_014695 disease not phenotype-associated VAR_014696 commonName VAR_014696 VAR_014696 disease not phenotype-associated VAR_014697 commonName VAR_014697 VAR_014697 disease not phenotype-associated VAR_014698 commonName VAR_014698 VAR_014698 disease not phenotype-associated VAR_014699 commonName VAR_014699 VAR_014699 disease not phenotype-associated VAR_014700 commonName VAR_014700 VAR_014700 disease not phenotype-associated VAR_014701 commonName VAR_014701 VAR_014701 disease not phenotype-associated VAR_014702 commonName VAR_014702 VAR_014702 disease not phenotype-associated VAR_014703 commonName VAR_014703 VAR_014703 disease not phenotype-associated VAR_014704 commonName VAR_014704 VAR_014704 disease not phenotype-associated VAR_014705 commonName VAR_014705 VAR_014705 disease not phenotype-associated VAR_014706 commonName VAR_014706 VAR_014706 disease not phenotype-associated VAR_014707 commonName VAR_014707 VAR_014707 disease not phenotype-associated VAR_014708 commonName VAR_014708 VAR_014708 disease not phenotype-associated VAR_014709 commonName VAR_014709 VAR_014709 disease not phenotype-associated VAR_014710 commonName VAR_014710 VAR_014710 disease not phenotype-associated VAR_014711 commonName VAR_014711 VAR_014711 disease not phenotype-associated VAR_014712 commonName VAR_014712 VAR_014712 disease not phenotype-associated VAR_014713 commonName VAR_014713 VAR_014713 disease not phenotype-associated VAR_014714 commonName VAR_014714 VAR_014714 disease not phenotype-associated VAR_014715 commonName VAR_014715 VAR_014715 disease not phenotype-associated VAR_014716 commonName VAR_014716 VAR_014716 disease not phenotype-associated VAR_014717 commonName VAR_014717 VAR_014717 disease not phenotype-associated VAR_014718 commonName VAR_014718 VAR_014718 disease not phenotype-associated VAR_014719 commonName VAR_014719 VAR_014719 disease not phenotype-associated VAR_014721 commonName VAR_014721 VAR_014721 disease not phenotype-associated VAR_014722 commonName VAR_014722 VAR_014722 disease not phenotype-associated VAR_014723 commonName VAR_014723 VAR_014723 disease not phenotype-associated VAR_014724 commonName VAR_014724 VAR_014724 disease not phenotype-associated VAR_014725 commonName VAR_014725 VAR_014725 disease not phenotype-associated VAR_014726 commonName VAR_014726 VAR_014726 disease not phenotype-associated VAR_014727 commonName VAR_014727 VAR_014727 disease not phenotype-associated VAR_014728 commonName VAR_014728 VAR_014728 disease not phenotype-associated VAR_014729 commonName VAR_014729 VAR_014729 disease not phenotype-associated VAR_014730 commonName VAR_014730 VAR_014730 disease not phenotype-associated VAR_014731 commonName VAR_014731 VAR_014731 disease not phenotype-associated VAR_014732 commonName VAR_014732 VAR_014732 disease not phenotype-associated VAR_014733 commonName VAR_014733 VAR_014733 disease not phenotype-associated VAR_014734 commonName VAR_014734 VAR_014734 disease not phenotype-associated VAR_014735 commonName VAR_014735 VAR_014735 disease not phenotype-associated VAR_014736 commonName VAR_014736 VAR_014736 disease not phenotype-associated VAR_014737 commonName VAR_014737 VAR_014737 disease not phenotype-associated VAR_014742 commonName VAR_014742 VAR_014742 disease not phenotype-associated VAR_014743 commonName VAR_014743 VAR_014743 disease not phenotype-associated VAR_014744 commonName VAR_014744 VAR_014744 disease not phenotype-associated VAR_014745 commonName VAR_014745 VAR_014745 disease not phenotype-associated VAR_014746 commonName VAR_014746 VAR_014746 disease not phenotype-associated VAR_014747 commonName VAR_014747 VAR_014747 disease not phenotype-associated VAR_014748 commonName VAR_014748 VAR_014748 disease not phenotype-associated VAR_014749 commonName VAR_014749 VAR_014749 disease not phenotype-associated VAR_014756 commonName VAR_014756 VAR_014756 disease not phenotype-associated VAR_014757 commonName VAR_014757 VAR_014757 disease not phenotype-associated VAR_014760 commonName VAR_014760 VAR_014760 disease not phenotype-associated VAR_014764 commonName VAR_014764 VAR_014764 disease not phenotype-associated VAR_014765 commonName VAR_014765 VAR_014765 disease not phenotype-associated VAR_014766 commonName VAR_014766 VAR_014766 disease not phenotype-associated VAR_014767 commonName VAR_014767 VAR_014767 disease not phenotype-associated VAR_014769 commonName VAR_014769 VAR_014769 disease not phenotype-associated VAR_014783 commonName VAR_014783 VAR_014783 disease not phenotype-associated VAR_014784 commonName VAR_014784 VAR_014784 disease not phenotype-associated VAR_014785 commonName VAR_014785 VAR_014785 disease not phenotype-associated VAR_014786 commonName VAR_014786 VAR_014786 disease not phenotype-associated VAR_014787 commonName VAR_014787 VAR_014787 disease not phenotype-associated VAR_014791 commonName VAR_014791 VAR_014791 disease not phenotype-associated VAR_014793 commonName VAR_014793 VAR_014793 disease not phenotype-associated VAR_014794 commonName VAR_014794 VAR_014794 disease not phenotype-associated VAR_014795 commonName VAR_014795 VAR_014795 disease not phenotype-associated VAR_014797 commonName VAR_014797 VAR_014797 disease not phenotype-associated VAR_014798 commonName VAR_014798 VAR_014798 disease not phenotype-associated VAR_014799 commonName VAR_014799 VAR_014799 disease not phenotype-associated VAR_014800 commonName VAR_014800 VAR_014800 disease not phenotype-associated VAR_014801 commonName VAR_014801 VAR_014801 disease not phenotype-associated VAR_014802 commonName VAR_014802 VAR_014802 disease not phenotype-associated VAR_014803 commonName VAR_014803 VAR_014803 disease not phenotype-associated VAR_014804 commonName VAR_014804 VAR_014804 disease not phenotype-associated VAR_014805 commonName VAR_014805 VAR_014805 disease not phenotype-associated VAR_014806 commonName VAR_014806 VAR_014806 disease not phenotype-associated VAR_014807 commonName VAR_014807 VAR_014807 disease not phenotype-associated VAR_014808 commonName VAR_014808 VAR_014808 disease not phenotype-associated VAR_014810 commonName VAR_014810 VAR_014810 disease not phenotype-associated VAR_014811 commonName VAR_014811 VAR_014811 disease not phenotype-associated VAR_014812 commonName VAR_014812 VAR_014812 disease not phenotype-associated VAR_014813 commonName VAR_014813 VAR_014813 disease not phenotype-associated VAR_014814 commonName VAR_014814 VAR_014814 disease not phenotype-associated VAR_014815 commonName VAR_014815 VAR_014815 disease not phenotype-associated VAR_014816 commonName VAR_014816 VAR_014816 disease not phenotype-associated VAR_014817 commonName VAR_014817 VAR_014817 disease not phenotype-associated VAR_014818 commonName VAR_014818 VAR_014818 disease not phenotype-associated VAR_014819 commonName VAR_014819 VAR_014819 disease not phenotype-associated VAR_014820 commonName VAR_014820 VAR_014820 disease not phenotype-associated VAR_014821 commonName VAR_014821 VAR_014821 disease not phenotype-associated VAR_014822 commonName VAR_014822 VAR_014822 disease not phenotype-associated VAR_014823 commonName VAR_014823 VAR_014823 disease not phenotype-associated VAR_014824 commonName VAR_014824 VAR_014824 disease not phenotype-associated VAR_014826 commonName VAR_014826 VAR_014826 disease not phenotype-associated VAR_014827 commonName VAR_014827 VAR_014827 disease not phenotype-associated VAR_014828 commonName VAR_014828 VAR_014828 disease not phenotype-associated VAR_014829 commonName VAR_014829 VAR_014829 disease not phenotype-associated VAR_014830 commonName VAR_014830 VAR_014830 disease not phenotype-associated VAR_014831 commonName VAR_014831 VAR_014831 disease not phenotype-associated VAR_014832 commonName VAR_014832 VAR_014832 disease not phenotype-associated VAR_014833 commonName VAR_014833 VAR_014833 disease not phenotype-associated VAR_014834 commonName VAR_014834 VAR_014834 disease not phenotype-associated VAR_014837 commonName VAR_014837 VAR_014837 disease not phenotype-associated VAR_014838 commonName VAR_014838 VAR_014838 disease not phenotype-associated VAR_014840 commonName VAR_014840 VAR_014840 disease not phenotype-associated VAR_014841 commonName VAR_014841 VAR_014841 disease not phenotype-associated VAR_014842 commonName VAR_014842 VAR_014842 disease not phenotype-associated VAR_014843 commonName VAR_014843 VAR_014843 disease not phenotype-associated VAR_014845 commonName VAR_014845 VAR_014845 disease not phenotype-associated VAR_014846 commonName VAR_014846 VAR_014846 disease not phenotype-associated VAR_014848 commonName VAR_014848 VAR_014848 disease not phenotype-associated VAR_014849 commonName VAR_014849 VAR_014849 disease not phenotype-associated VAR_014850 commonName VAR_014850 VAR_014850 disease not phenotype-associated VAR_014851 commonName VAR_014851 VAR_014851 disease not phenotype-associated VAR_014852 commonName VAR_014852 VAR_014852 disease not phenotype-associated VAR_014853 commonName VAR_014853 VAR_014853 disease not phenotype-associated VAR_014854 commonName VAR_014854 VAR_014854 disease not phenotype-associated VAR_014855 commonName VAR_014855 VAR_014855 disease not phenotype-associated VAR_014856 commonName VAR_014856 VAR_014856 disease not phenotype-associated VAR_014857 commonName VAR_014857 VAR_014857 disease not phenotype-associated VAR_014860 commonName VAR_014860 VAR_014860 disease not phenotype-associated VAR_014861 commonName VAR_014861 VAR_014861 disease not phenotype-associated VAR_014862 commonName VAR_014862 VAR_014862 disease not phenotype-associated VAR_014863 commonName VAR_014863 VAR_014863 disease not phenotype-associated VAR_014864 commonName VAR_014864 VAR_014864 disease not phenotype-associated VAR_014866 commonName VAR_014866 VAR_014866 disease not phenotype-associated VAR_014867 commonName VAR_014867 VAR_014867 disease not phenotype-associated VAR_014868 commonName VAR_014868 VAR_014868 disease not phenotype-associated VAR_014869 commonName VAR_014869 VAR_014869 disease not phenotype-associated VAR_014870 commonName VAR_014870 VAR_014870 disease not phenotype-associated VAR_014871 commonName VAR_014871 VAR_014871 disease not phenotype-associated VAR_014872 commonName VAR_014872 VAR_014872 disease not phenotype-associated VAR_014873 commonName VAR_014873 VAR_014873 disease not phenotype-associated VAR_014874 commonName VAR_014874 VAR_014874 disease not phenotype-associated VAR_014875 commonName VAR_014875 VAR_014875 disease not phenotype-associated VAR_014876 commonName VAR_014876 VAR_014876 disease not phenotype-associated VAR_014877 commonName VAR_014877 VAR_014877 disease not phenotype-associated VAR_014878 commonName VAR_014878 VAR_014878 disease not phenotype-associated VAR_014879 commonName VAR_014879 VAR_014879 disease not phenotype-associated VAR_014881 commonName VAR_014881 VAR_014881 disease not phenotype-associated VAR_014882 commonName VAR_014882 VAR_014882 disease not phenotype-associated VAR_014884 commonName VAR_014884 VAR_014884 disease not phenotype-associated VAR_014885 commonName VAR_014885 VAR_014885 disease not phenotype-associated VAR_014886 commonName VAR_014886 VAR_014886 disease not phenotype-associated VAR_014887 commonName VAR_014887 VAR_014887 disease not phenotype-associated VAR_014888 commonName VAR_014888 VAR_014888 disease not phenotype-associated VAR_014889 commonName VAR_014889 VAR_014889 disease not phenotype-associated VAR_014890 commonName VAR_014890 VAR_014890 disease not phenotype-associated VAR_014891 commonName VAR_014891 VAR_014891 disease not phenotype-associated VAR_014892 commonName VAR_014892 VAR_014892 disease not phenotype-associated VAR_014893 commonName VAR_014893 VAR_014893 disease not phenotype-associated VAR_014894 commonName VAR_014894 VAR_014894 disease not phenotype-associated VAR_014895 commonName VAR_014895 VAR_014895 disease not phenotype-associated VAR_014896 commonName VAR_014896 VAR_014896 disease not phenotype-associated VAR_014897 commonName VAR_014897 VAR_014897 disease not phenotype-associated VAR_014898 commonName VAR_014898 VAR_014898 disease not phenotype-associated VAR_014899 commonName VAR_014899 VAR_014899 disease not phenotype-associated VAR_014900 commonName VAR_014900 VAR_014900 disease not phenotype-associated VAR_014901 commonName VAR_014901 VAR_014901 disease not phenotype-associated VAR_014902 commonName VAR_014902 VAR_014902 disease not phenotype-associated VAR_014903 commonName VAR_014903 VAR_014903 disease not phenotype-associated VAR_014904 commonName VAR_014904 VAR_014904 disease not phenotype-associated VAR_014905 commonName VAR_014905 VAR_014905 disease not phenotype-associated VAR_014906 commonName VAR_014906 VAR_014906 disease not phenotype-associated VAR_014907 commonName VAR_014907 VAR_014907 disease not phenotype-associated VAR_014908 commonName VAR_014908 VAR_014908 disease not phenotype-associated VAR_014909 commonName VAR_014909 VAR_014909 disease not phenotype-associated VAR_014910 commonName VAR_014910 VAR_014910 disease phenotype-associated VAR_014910 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] VAR_014911 commonName VAR_014911 VAR_014911 disease not phenotype-associated VAR_014912 commonName VAR_014912 VAR_014912 disease not phenotype-associated VAR_014913 commonName VAR_014913 VAR_014913 disease not phenotype-associated VAR_014915 commonName VAR_014915 VAR_014915 disease not phenotype-associated VAR_014916 commonName VAR_014916 VAR_014916 disease not phenotype-associated VAR_014917 commonName VAR_014917 VAR_014917 disease not phenotype-associated VAR_014918 commonName VAR_014918 VAR_014918 disease not phenotype-associated VAR_014919 commonName VAR_014919 VAR_014919 disease not phenotype-associated VAR_014920 commonName VAR_014920 VAR_014920 disease not phenotype-associated VAR_014922 commonName VAR_014922 VAR_014922 disease not phenotype-associated VAR_014924 commonName VAR_014924 VAR_014924 disease not phenotype-associated VAR_014925 commonName VAR_014925 VAR_014925 disease not phenotype-associated VAR_014926 commonName VAR_014926 VAR_014926 disease not phenotype-associated VAR_014927 commonName VAR_014927 VAR_014927 disease not phenotype-associated VAR_014930 commonName VAR_014930 VAR_014930 disease not phenotype-associated VAR_014931 commonName VAR_014931 VAR_014931 disease not phenotype-associated VAR_014934 commonName VAR_014934 VAR_014934 disease not phenotype-associated VAR_014936 commonName VAR_014936 VAR_014936 disease not phenotype-associated VAR_014937 commonName VAR_014937 VAR_014937 disease not phenotype-associated VAR_014938 commonName VAR_014938 VAR_014938 disease not phenotype-associated VAR_014942 commonName VAR_014942 VAR_014942 disease not phenotype-associated VAR_014943 commonName VAR_014943 VAR_014943 disease phenotype-associated VAR_014943 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_014944 commonName VAR_014944 VAR_014944 disease not phenotype-associated VAR_014945 commonName VAR_014945 VAR_014945 disease not phenotype-associated VAR_014946 commonName VAR_014946 VAR_014946 disease not phenotype-associated VAR_014947 commonName VAR_014947 VAR_014947 disease not phenotype-associated VAR_014950 commonName VAR_014950 VAR_014950 disease not phenotype-associated VAR_014951 commonName VAR_014951 VAR_014951 disease not phenotype-associated VAR_014952 commonName VAR_014952 VAR_014952 disease not phenotype-associated VAR_014953 commonName VAR_014953 VAR_014953 disease not phenotype-associated VAR_014954 commonName VAR_014954 VAR_014954 disease not phenotype-associated VAR_014956 commonName VAR_014956 VAR_014956 disease not phenotype-associated VAR_014957 commonName VAR_014957 VAR_014957 disease not phenotype-associated VAR_014959 commonName VAR_014959 VAR_014959 disease not phenotype-associated VAR_014960 commonName VAR_014960 VAR_014960 disease not phenotype-associated VAR_014961 commonName VAR_014961 VAR_014961 disease phenotype-associated VAR_014961 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300] VAR_014962 commonName VAR_014962 VAR_014962 disease phenotype-associated VAR_014962 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300] VAR_014963 commonName VAR_014963 VAR_014963 disease phenotype-associated VAR_014963 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300] VAR_014964 commonName VAR_014964 VAR_014964 disease phenotype-associated VAR_014964 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300] VAR_014965 commonName VAR_014965 VAR_014965 disease phenotype-associated VAR_014965 phenoCommon Popliteal pterygium syndrome (PPS) [MIM:119500] VAR_014966 commonName VAR_014966 VAR_014966 disease phenotype-associated VAR_014966 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300] VAR_014967 commonName VAR_014967 VAR_014967 disease phenotype-associated VAR_014967 phenoCommon Popliteal pterygium syndrome (PPS) [MIM:119500] VAR_014968 commonName VAR_014968 VAR_014968 disease phenotype-associated VAR_014968 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300] VAR_014969 commonName VAR_014969 VAR_014969 disease phenotype-associated VAR_014969 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300] VAR_014970 commonName VAR_014970 VAR_014970 disease phenotype-associated VAR_014970 phenoCommon Popliteal pterygium syndrome (PPS) [MIM:119500] VAR_014971 commonName VAR_014971 VAR_014971 disease phenotype-associated VAR_014971 phenoCommon Popliteal pterygium syndrome (PPS) [MIM:119500] VAR_014972 commonName VAR_014972 VAR_014972 disease phenotype-associated VAR_014972 phenoCommon Popliteal pterygium syndrome (PPS) [MIM:119500] VAR_014973 commonName VAR_014973 VAR_014973 disease phenotype-associated VAR_014973 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300] VAR_014974 commonName VAR_014974 VAR_014974 disease phenotype-associated VAR_014974 phenoCommon Popliteal pterygium syndrome (PPS) [MIM:119500] VAR_014975 commonName VAR_014975 VAR_014975 disease phenotype-associated VAR_014975 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300] VAR_014976 commonName VAR_014976 VAR_014976 disease phenotype-associated VAR_014976 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300] VAR_014977 commonName VAR_014977 VAR_014977 disease phenotype-associated VAR_014977 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300] VAR_014978 commonName VAR_014978 VAR_014978 disease phenotype-associated VAR_014978 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300] VAR_014979 commonName VAR_014979 VAR_014979 disease not phenotype-associated VAR_014981 commonName VAR_014981 VAR_014981 disease phenotype-associated VAR_014981 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300] VAR_014982 commonName VAR_014982 VAR_014982 disease phenotype-associated VAR_014982 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300] VAR_014983 commonName VAR_014983 VAR_014983 disease phenotype-associated VAR_014983 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300] VAR_014984 commonName VAR_014984 VAR_014984 disease phenotype-associated VAR_014984 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300] VAR_014985 commonName VAR_014985 VAR_014985 disease phenotype-associated VAR_014985 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300] VAR_014986 commonName VAR_014986 VAR_014986 disease phenotype-associated VAR_014986 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300] VAR_014987 commonName VAR_014987 VAR_014987 disease phenotype-associated VAR_014987 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300] VAR_014988 commonName VAR_014988 VAR_014988 disease phenotype-associated VAR_014988 phenoCommon Non-syndromic orofacial cleft type 6 (OFC6) [MIM:608864] VAR_014988 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300] VAR_014992 commonName VAR_014992 VAR_014992 disease not phenotype-associated VAR_014993 commonName VAR_014993 VAR_014993 disease not phenotype-associated VAR_014994 commonName VAR_014994 VAR_014994 disease not phenotype-associated VAR_014995 commonName VAR_014995 VAR_014995 disease not phenotype-associated VAR_015001 commonName VAR_015001 VAR_015001 disease not phenotype-associated VAR_015002 commonName VAR_015002 VAR_015002 disease not phenotype-associated VAR_015003 commonName VAR_015003 VAR_015003 disease not phenotype-associated VAR_015004 commonName VAR_015004 VAR_015004 disease not phenotype-associated VAR_015005 commonName VAR_015005 VAR_015005 disease not phenotype-associated VAR_015006 commonName VAR_015006 VAR_015006 disease not phenotype-associated VAR_015007 commonName VAR_015007 VAR_015007 disease phenotype-associated VAR_015007 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_015008 commonName VAR_015008 VAR_015008 disease phenotype-associated VAR_015008 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_015009 commonName VAR_015009 VAR_015009 disease phenotype-associated VAR_015009 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_015010 commonName VAR_015010 VAR_015010 disease phenotype-associated VAR_015010 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_015011 commonName VAR_015011 VAR_015011 disease phenotype-associated VAR_015011 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_015012 commonName VAR_015012 VAR_015012 disease not phenotype-associated VAR_015014 commonName VAR_015014 VAR_015014 disease phenotype-associated VAR_015014 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] VAR_015015 commonName VAR_015015 VAR_015015 disease phenotype-associated VAR_015015 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] VAR_015016 commonName VAR_015016 VAR_015016 disease phenotype-associated VAR_015016 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] VAR_015017 commonName VAR_015017 VAR_015017 disease phenotype-associated VAR_015017 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] VAR_015018 commonName VAR_015018 VAR_015018 disease phenotype-associated VAR_015018 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] VAR_015019 commonName VAR_015019 VAR_015020 commonName VAR_015020 VAR_015020 disease phenotype-associated VAR_015020 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] VAR_015021 commonName VAR_015021 VAR_015021 disease phenotype-associated VAR_015021 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] VAR_015022 commonName VAR_015022 VAR_015022 disease phenotype-associated VAR_015022 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] VAR_015023 commonName VAR_015023 VAR_015023 disease phenotype-associated VAR_015023 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] VAR_015024 commonName VAR_015024 VAR_015024 disease phenotype-associated VAR_015024 phenoCommon Spastic paraplegia X-linked type 2 (SPG2) [MIM:312920] VAR_015025 commonName VAR_015025 VAR_015026 commonName VAR_015026 VAR_015026 disease phenotype-associated VAR_015026 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] VAR_015063 commonName VAR_015063 VAR_015063 disease phenotype-associated VAR_015063 phenoCommon Long QT syndrome type 6 (LQT6) [MIM:613693] VAR_015064 commonName VAR_015064 VAR_015065 commonName VAR_015065 VAR_015066 commonName VAR_015066 VAR_015066 disease phenotype-associated VAR_015066 phenoCommon Aniridia (AN) [MIM:106210] VAR_015068 commonName VAR_015068 VAR_015068 disease not phenotype-associated VAR_015069 commonName VAR_015069 VAR_015069 disease not phenotype-associated VAR_015070 commonName VAR_015070 VAR_015070 disease not phenotype-associated VAR_015071 commonName VAR_015071 VAR_015071 disease not phenotype-associated VAR_015072 commonName VAR_015072 VAR_015072 disease not phenotype-associated VAR_015073 commonName VAR_015073 VAR_015073 disease not phenotype-associated VAR_015074 commonName VAR_015074 VAR_015074 disease not phenotype-associated VAR_015075 commonName VAR_015075 VAR_015076 commonName VAR_015076 VAR_015076 disease not phenotype-associated VAR_015077 commonName VAR_015077 VAR_015078 commonName VAR_015078 VAR_015078 disease not phenotype-associated VAR_015079 commonName VAR_015079 VAR_015079 disease not phenotype-associated VAR_015080 commonName VAR_015080 VAR_015080 disease not phenotype-associated VAR_015081 commonName VAR_015081 VAR_015081 disease not phenotype-associated VAR_015082 commonName VAR_015082 VAR_015082 disease not phenotype-associated VAR_015083 commonName VAR_015083 VAR_015083 disease not phenotype-associated VAR_015084 commonName VAR_015084 VAR_015084 disease not phenotype-associated VAR_015085 commonName VAR_015085 VAR_015085 disease phenotype-associated VAR_015085 phenoCommon Erythrokeratodermia variabilis (EKV) [MIM:133200] VAR_015086 commonName VAR_015086 VAR_015086 disease phenotype-associated VAR_015086 phenoCommon Erythrokeratodermia variabilis (EKV) [MIM:133200] VAR_015087 commonName VAR_015087 VAR_015087 disease phenotype-associated VAR_015087 phenoCommon Deafness autosomal dominant type 2B (DFNA2B) [MIM:612644] VAR_015088 commonName VAR_015088 VAR_015088 disease not phenotype-associated VAR_015089 commonName VAR_015089 VAR_015090 commonName VAR_015090 VAR_015091 commonName VAR_015091 VAR_015092 commonName VAR_015092 VAR_015092 disease not phenotype-associated VAR_015093 commonName VAR_015093 VAR_015093 disease not phenotype-associated VAR_015094 commonName VAR_015094 VAR_015094 disease not phenotype-associated VAR_015095 commonName VAR_015095 VAR_015095 disease phenotype-associated VAR_015095 phenoCommon Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200] VAR_015096 commonName VAR_015096 VAR_015096 disease phenotype-associated VAR_015096 phenoCommon Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200] VAR_015097 commonName VAR_015097 VAR_015097 disease not phenotype-associated VAR_015098 commonName VAR_015098 VAR_015098 disease not phenotype-associated VAR_015099 commonName VAR_015099 VAR_015099 disease phenotype-associated VAR_015099 phenoCommon Maple syrup urine disease type 2 (MSUD2) [MIM:248600] VAR_015100 commonName VAR_015100 VAR_015100 disease phenotype-associated VAR_015100 phenoCommon Maple syrup urine disease type 2 (MSUD2) [MIM:248600] VAR_015103 comment Breast cancer VAR_015103 commonName VAR_015103 VAR_015110 commonName VAR_015110 VAR_015110 disease not phenotype-associated VAR_015111 commonName VAR_015111 VAR_015111 disease phenotype-associated VAR_015111 phenoCommon Visceral heterotaxy autosomal type 5 (HTX5) [MIM:270100] VAR_015112 commonName VAR_015112 VAR_015112 disease not phenotype-associated VAR_015113 commonName VAR_015113 VAR_015113 disease not phenotype-associated VAR_015114 commonName VAR_015114 VAR_015114 disease not phenotype-associated VAR_015115 commonName VAR_015115 VAR_015115 disease not phenotype-associated VAR_015117 commonName VAR_015117 VAR_015117 disease not phenotype-associated VAR_015118 commonName VAR_015118 VAR_015118 disease not phenotype-associated VAR_015119 commonName VAR_015119 VAR_015119 disease not phenotype-associated VAR_015120 commonName VAR_015120 VAR_015121 commonName VAR_015121 VAR_015122 commonName VAR_015122 VAR_015123 commonName VAR_015123 VAR_015124 commonName VAR_015124 VAR_015125 commonName VAR_015125 VAR_015126 commonName VAR_015126 VAR_015127 commonName VAR_015127 VAR_015127 disease phenotype-associated VAR_015127 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_015128 commonName VAR_015128 VAR_015128 disease phenotype-associated VAR_015128 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_015129 commonName VAR_015129 VAR_015129 disease phenotype-associated VAR_015129 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_015130 commonName VAR_015130 VAR_015130 disease phenotype-associated VAR_015130 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_015131 commonName VAR_015131 VAR_015131 disease phenotype-associated VAR_015131 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_015132 commonName VAR_015132 VAR_015132 disease phenotype-associated VAR_015132 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_015133 commonName VAR_015133 VAR_015133 disease phenotype-associated VAR_015133 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_015134 commonName VAR_015134 VAR_015134 disease phenotype-associated VAR_015134 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_015135 commonName VAR_015135 VAR_015135 disease phenotype-associated VAR_015135 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_015136 commonName VAR_015136 VAR_015136 disease phenotype-associated VAR_015136 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_015137 commonName VAR_015137 VAR_015137 disease phenotype-associated VAR_015137 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_015138 commonName VAR_015138 VAR_015138 disease phenotype-associated VAR_015138 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_015139 commonName VAR_015139 VAR_015139 disease phenotype-associated VAR_015139 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_015140 commonName VAR_015140 VAR_015140 disease phenotype-associated VAR_015140 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_015141 commonName VAR_015141 VAR_015141 disease phenotype-associated VAR_015141 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_015142 commonName VAR_015142 VAR_015142 disease phenotype-associated VAR_015142 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_015143 commonName VAR_015143 VAR_015143 disease phenotype-associated VAR_015143 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_015144 commonName VAR_015144 VAR_015144 disease phenotype-associated VAR_015144 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_015145 commonName VAR_015145 VAR_015145 disease not phenotype-associated VAR_015146 commonName VAR_015146 VAR_015146 disease not phenotype-associated VAR_015147 commonName VAR_015147 VAR_015147 disease not phenotype-associated VAR_015152 commonName VAR_015152 VAR_015152 disease not phenotype-associated VAR_015153 commonName VAR_015153 VAR_015153 disease not phenotype-associated VAR_015154 commonName VAR_015154 VAR_015154 disease phenotype-associated VAR_015154 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] VAR_015155 commonName VAR_015155 VAR_015155 disease phenotype-associated VAR_015155 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] VAR_015156 commonName VAR_015156 VAR_015156 disease phenotype-associated VAR_015156 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] VAR_015157 commonName VAR_015157 VAR_015157 disease phenotype-associated VAR_015157 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] VAR_015158 commonName VAR_015158 VAR_015158 disease phenotype-associated VAR_015158 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] VAR_015159 commonName VAR_015159 VAR_015159 disease phenotype-associated VAR_015159 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] VAR_015160 commonName VAR_015160 VAR_015160 disease phenotype-associated VAR_015160 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] VAR_015161 commonName VAR_015161 VAR_015161 disease phenotype-associated VAR_015161 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] VAR_015162 commonName VAR_015162 VAR_015162 disease phenotype-associated VAR_015162 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] VAR_015163 commonName VAR_015163 VAR_015163 disease phenotype-associated VAR_015163 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] VAR_015164 commonName VAR_015164 VAR_015164 disease phenotype-associated VAR_015164 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] VAR_015165 commonName VAR_015165 VAR_015165 disease phenotype-associated VAR_015165 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] VAR_015166 commonName VAR_015166 VAR_015166 disease phenotype-associated VAR_015166 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] VAR_015167 commonName VAR_015167 VAR_015167 disease phenotype-associated VAR_015167 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] VAR_015168 commonName VAR_015168 VAR_015168 disease phenotype-associated VAR_015168 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] VAR_015169 commonName VAR_015169 VAR_015169 disease phenotype-associated VAR_015169 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] VAR_015170 commonName VAR_015170 VAR_015170 disease not phenotype-associated VAR_015172 commonName VAR_015172 VAR_015172 disease phenotype-associated VAR_015172 phenoCommon Bothnia retinal dystrophy (BRD) [MIM:607475] VAR_015173 commonName VAR_015173 VAR_015173 disease phenotype-associated VAR_015173 phenoCommon Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100] VAR_015174 commonName VAR_015174 VAR_015174 disease phenotype-associated VAR_015174 phenoCommon Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100] VAR_015175 commonName VAR_015175 VAR_015175 disease phenotype-associated VAR_015175 phenoCommon Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100] VAR_015176 commonName VAR_015176 VAR_015176 disease phenotype-associated VAR_015176 phenoCommon Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100] VAR_015178 commonName VAR_015178 VAR_015178 disease phenotype-associated VAR_015178 phenoCommon Lissencephaly X-linked type 2 (LISX2) [MIM:300215] VAR_015179 commonName VAR_015179 VAR_015179 disease phenotype-associated VAR_015179 phenoCommon Lissencephaly X-linked type 2 (LISX2) [MIM:300215] VAR_015180 commonName VAR_015180 VAR_015180 disease phenotype-associated VAR_015180 phenoCommon Epileptic encephalopathy early infantile type 1 (EIEE1) [MIM:308350] VAR_015181 commonName VAR_015181 VAR_015181 disease phenotype-associated VAR_015181 phenoCommon Premature ovarian failure type 3 (POF3) [MIM:608996] VAR_015182 commonName VAR_015182 VAR_015182 disease not phenotype-associated VAR_015183 commonName VAR_015183 VAR_015183 disease not phenotype-associated VAR_015185 commonName VAR_015185 VAR_015185 disease not phenotype-associated VAR_015186 commonName VAR_015186 VAR_015186 disease phenotype-associated VAR_015186 phenoCommon Nephronophthisis type 4 (NPHP4) [MIM:606966] VAR_015187 commonName VAR_015187 VAR_015187 disease not phenotype-associated VAR_015188 commonName VAR_015188 VAR_015188 disease phenotype-associated VAR_015188 phenoCommon Benign hereditary chorea (BHC) [MIM:118700] VAR_015189 commonName VAR_015189 VAR_015189 disease phenotype-associated VAR_015189 phenoCommon Benign hereditary chorea (BHC) [MIM:118700] VAR_015190 commonName VAR_015190 VAR_015190 disease phenotype-associated VAR_015190 phenoCommon Nail-patella syndrome (NPS) [MIM:161200] VAR_015191 commonName VAR_015191 VAR_015191 disease phenotype-associated VAR_015191 phenoCommon Nail-patella syndrome (NPS) [MIM:161200] VAR_015192 commonName VAR_015192 VAR_015192 disease phenotype-associated VAR_015192 phenoCommon Nail-patella syndrome (NPS) [MIM:161200] VAR_015193 commonName VAR_015193 VAR_015193 disease phenotype-associated VAR_015193 phenoCommon Nail-patella syndrome (NPS) [MIM:161200] VAR_015194 commonName VAR_015194 VAR_015194 disease phenotype-associated VAR_015194 phenoCommon Nail-patella syndrome (NPS) [MIM:161200] VAR_015195 commonName VAR_015195 VAR_015195 disease phenotype-associated VAR_015195 phenoCommon Nail-patella syndrome (NPS) [MIM:161200] VAR_015196 commonName VAR_015196 VAR_015196 disease phenotype-associated VAR_015196 phenoCommon Nail-patella syndrome (NPS) [MIM:161200] VAR_015197 commonName VAR_015197 VAR_015197 disease phenotype-associated VAR_015197 phenoCommon Nail-patella syndrome (NPS) [MIM:161200] VAR_015198 commonName VAR_015198 VAR_015198 disease phenotype-associated VAR_015198 phenoCommon Nail-patella syndrome (NPS) [MIM:161200] VAR_015199 commonName VAR_015199 VAR_015199 disease phenotype-associated VAR_015199 phenoCommon Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] VAR_015200 commonName VAR_015200 VAR_015200 disease phenotype-associated VAR_015200 phenoCommon Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] VAR_015201 commonName VAR_015201 VAR_015201 disease phenotype-associated VAR_015201 phenoCommon Nail-patella syndrome (NPS) [MIM:161200] VAR_015202 commonName VAR_015202 VAR_015202 disease phenotype-associated VAR_015202 phenoCommon Nail-patella syndrome (NPS) [MIM:161200] VAR_015203 commonName VAR_015203 VAR_015203 disease phenotype-associated VAR_015203 phenoCommon Nail-patella syndrome (NPS) [MIM:161200] VAR_015204 commonName VAR_015204 VAR_015204 disease phenotype-associated VAR_015204 phenoCommon Nail-patella syndrome (NPS) [MIM:161200] VAR_015205 commonName VAR_015205 VAR_015205 disease phenotype-associated VAR_015205 phenoCommon Nail-patella syndrome (NPS) [MIM:161200] VAR_015206 commonName VAR_015206 VAR_015206 disease phenotype-associated VAR_015206 phenoCommon Nail-patella syndrome (NPS) [MIM:161200] VAR_015207 commonName VAR_015207 VAR_015207 disease phenotype-associated VAR_015207 phenoCommon Nail-patella syndrome (NPS) [MIM:161200] VAR_015208 commonName VAR_015208 VAR_015208 disease phenotype-associated VAR_015208 phenoCommon Nail-patella syndrome (NPS) [MIM:161200] VAR_015209 commonName VAR_015209 VAR_015209 disease phenotype-associated VAR_015209 phenoCommon Nail-patella syndrome (NPS) [MIM:161200] VAR_015210 commonName VAR_015210 VAR_015210 disease phenotype-associated VAR_015210 phenoCommon Nail-patella syndrome (NPS) [MIM:161200] VAR_015211 commonName VAR_015211 VAR_015211 disease phenotype-associated VAR_015211 phenoCommon Nail-patella syndrome (NPS) [MIM:161200] VAR_015212 commonName VAR_015212 VAR_015212 disease phenotype-associated VAR_015212 phenoCommon Nail-patella syndrome (NPS) [MIM:161200] VAR_015213 commonName VAR_015213 VAR_015213 disease phenotype-associated VAR_015213 phenoCommon Nail-patella syndrome (NPS) [MIM:161200] VAR_015214 commonName VAR_015214 VAR_015214 disease phenotype-associated VAR_015214 phenoCommon Nephronophthisis type 4 (NPHP4) [MIM:606966] VAR_015215 commonName VAR_015215 VAR_015215 disease not phenotype-associated VAR_015216 commonName VAR_015216 VAR_015216 disease not phenotype-associated VAR_015217 commonName VAR_015217 VAR_015217 disease not phenotype-associated VAR_015218 commonName VAR_015218 VAR_015218 disease phenotype-associated VAR_015218 phenoCommon Combined deficiency of vitamin K-dependent clotting factors type 1 (VKCFD1) [MIM:277450] VAR_015219 commonName VAR_015219 VAR_015219 disease phenotype-associated VAR_015219 phenoCommon Saethre-Chotzen syndrome (SCS) [MIM:101400] VAR_015220 commonName VAR_015220 VAR_015220 disease phenotype-associated VAR_015220 phenoCommon Ichthyosis lamellar type 1 (LI1) [MIM:242300] VAR_015221 commonName VAR_015221 VAR_015221 disease phenotype-associated VAR_015221 phenoCommon Ichthyosis lamellar type 1 (LI1) [MIM:242300] VAR_015222 commonName VAR_015222 VAR_015222 disease phenotype-associated VAR_015222 phenoCommon Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100] VAR_015223 commonName VAR_015223 VAR_015223 disease not phenotype-associated VAR_015224 commonName VAR_015224 VAR_015224 disease not phenotype-associated VAR_015228 commonName VAR_015228 VAR_015228 disease not phenotype-associated VAR_015229 comment A hepatocellular carcinoma sample VAR_015229 commonName VAR_015229 VAR_015230 comment A colorectal cancer sample VAR_015230 commonName VAR_015230 VAR_015231 commonName VAR_015231 VAR_015231 disease not phenotype-associated VAR_015232 commonName VAR_015232 VAR_015233 commonName VAR_015233 VAR_015233 disease not phenotype-associated VAR_015234 commonName VAR_015234 VAR_015234 disease not phenotype-associated VAR_015235 commonName VAR_015235 VAR_015235 disease not phenotype-associated VAR_015236 commonName VAR_015236 VAR_015236 disease phenotype-associated VAR_015236 phenoCommon Aarskog-Scott syndrome (AAS) [MIM:305400] VAR_015237 commonName VAR_015237 VAR_015237 disease phenotype-associated VAR_015237 phenoCommon Aarskog-Scott syndrome (AAS) [MIM:305400] VAR_015238 commonName VAR_015238 VAR_015238 disease phenotype-associated VAR_015238 phenoCommon Waardenburg syndrome type 4 (WS4B) [MIM:613265] VAR_015239 commonName VAR_015239 VAR_015239 disease phenotype-associated VAR_015239 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] VAR_015240 commonName VAR_015240 VAR_015240 disease phenotype-associated VAR_015240 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] VAR_015241 commonName VAR_015241 VAR_015241 disease phenotype-associated VAR_015241 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] VAR_015242 commonName VAR_015242 VAR_015242 disease phenotype-associated VAR_015242 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] VAR_015243 commonName VAR_015243 VAR_015243 disease phenotype-associated VAR_015243 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] VAR_015244 commonName VAR_015244 VAR_015244 disease phenotype-associated VAR_015244 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] VAR_015245 commonName VAR_015245 VAR_015245 disease phenotype-associated VAR_015245 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] VAR_015246 commonName VAR_015246 VAR_015246 disease phenotype-associated VAR_015246 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] VAR_015247 commonName VAR_015247 VAR_015247 disease phenotype-associated VAR_015247 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] VAR_015248 commonName VAR_015248 VAR_015248 disease phenotype-associated VAR_015248 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] VAR_015249 commonName VAR_015249 VAR_015249 disease phenotype-associated VAR_015249 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] VAR_015250 commonName VAR_015250 VAR_015250 disease phenotype-associated VAR_015250 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] VAR_015251 commonName VAR_015251 VAR_015251 disease phenotype-associated VAR_015251 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] VAR_015252 commonName VAR_015252 VAR_015252 disease not phenotype-associated VAR_015253 commonName VAR_015253 VAR_015253 disease phenotype-associated VAR_015253 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] VAR_015254 commonName VAR_015254 VAR_015254 disease phenotype-associated VAR_015254 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] VAR_015255 commonName VAR_015255 VAR_015255 disease phenotype-associated VAR_015255 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] VAR_015256 commonName VAR_015256 VAR_015256 disease phenotype-associated VAR_015256 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] VAR_015257 commonName VAR_015257 VAR_015257 disease phenotype-associated VAR_015257 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] VAR_015258 commonName VAR_015258 VAR_015258 disease phenotype-associated VAR_015258 phenoCommon Leigh syndrome (LS) [MIM:256000] VAR_015259 commonName VAR_015259 VAR_015259 disease phenotype-associated VAR_015259 phenoCommon Leigh syndrome (LS) [MIM:256000] VAR_015260 commonName VAR_015260 VAR_015260 disease phenotype-associated VAR_015260 phenoCommon Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038] VAR_015262 commonName VAR_015262 VAR_015262 disease phenotype-associated VAR_015262 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_015263 commonName VAR_015263 VAR_015263 disease phenotype-associated VAR_015263 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_015264 commonName VAR_015264 VAR_015264 disease phenotype-associated VAR_015264 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_015265 commonName VAR_015265 VAR_015265 disease phenotype-associated VAR_015265 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_015266 commonName VAR_015266 VAR_015266 disease phenotype-associated VAR_015266 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_015267 commonName VAR_015267 VAR_015267 disease phenotype-associated VAR_015267 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_015268 commonName VAR_015268 VAR_015268 disease phenotype-associated VAR_015268 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_015269 commonName VAR_015269 VAR_015269 disease phenotype-associated VAR_015269 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_015270 commonName VAR_015270 VAR_015270 disease phenotype-associated VAR_015270 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_015271 commonName VAR_015271 VAR_015271 disease phenotype-associated VAR_015271 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_015272 commonName VAR_015272 VAR_015272 disease phenotype-associated VAR_015272 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_015273 commonName VAR_015273 VAR_015273 disease phenotype-associated VAR_015273 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_015274 commonName VAR_015274 VAR_015274 disease phenotype-associated VAR_015274 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_015275 commonName VAR_015275 VAR_015275 disease phenotype-associated VAR_015275 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_015276 commonName VAR_015276 VAR_015276 disease phenotype-associated VAR_015276 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_015277 commonName VAR_015277 VAR_015277 disease phenotype-associated VAR_015277 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_015278 commonName VAR_015278 VAR_015278 disease phenotype-associated VAR_015278 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_015279 commonName VAR_015279 VAR_015279 disease phenotype-associated VAR_015279 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_015280 commonName VAR_015280 VAR_015280 disease phenotype-associated VAR_015280 phenoCommon Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780] VAR_015281 comment A gastric carcinoma sample VAR_015281 commonName VAR_015281 VAR_015282 comment A gastric carcinoma sample VAR_015282 commonName VAR_015282 VAR_015283 comment A gastric carcinoma sample VAR_015283 commonName VAR_015283 VAR_015284 comment A gastric carcinoma sample VAR_015284 commonName VAR_015284 VAR_015285 commonName VAR_015285 VAR_015286 comment A gastric carcinoma sample VAR_015286 commonName VAR_015286 VAR_015294 commonName VAR_015294 VAR_015294 disease phenotype-associated VAR_015294 phenoCommon Waardenburg syndrome type 4A (WS4A) [MIM:277580] VAR_015295 commonName VAR_015295 VAR_015295 disease phenotype-associated VAR_015295 phenoCommon Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200] VAR_015296 commonName VAR_015296 VAR_015296 disease not phenotype-associated VAR_015297 commonName VAR_015297 VAR_015297 disease phenotype-associated VAR_015297 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015298 commonName VAR_015298 VAR_015298 disease phenotype-associated VAR_015298 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015299 commonName VAR_015299 VAR_015299 disease phenotype-associated VAR_015299 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015300 commonName VAR_015300 VAR_015300 disease phenotype-associated VAR_015300 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015301 commonName VAR_015301 VAR_015301 disease phenotype-associated VAR_015301 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015302 commonName VAR_015302 VAR_015302 disease phenotype-associated VAR_015302 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015303 commonName VAR_015303 VAR_015303 disease not phenotype-associated VAR_015304 commonName VAR_015304 VAR_015304 disease phenotype-associated VAR_015304 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015305 commonName VAR_015305 VAR_015305 disease phenotype-associated VAR_015305 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015306 commonName VAR_015306 VAR_015306 disease phenotype-associated VAR_015306 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015307 commonName VAR_015307 VAR_015307 disease phenotype-associated VAR_015307 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015308 commonName VAR_015308 VAR_015308 disease phenotype-associated VAR_015308 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015309 commonName VAR_015309 VAR_015309 disease phenotype-associated VAR_015309 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015310 commonName VAR_015310 VAR_015310 disease phenotype-associated VAR_015310 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015311 commonName VAR_015311 VAR_015311 disease phenotype-associated VAR_015311 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015312 commonName VAR_015312 VAR_015312 disease phenotype-associated VAR_015312 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015313 commonName VAR_015313 VAR_015313 disease phenotype-associated VAR_015313 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015314 commonName VAR_015314 VAR_015314 disease phenotype-associated VAR_015314 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015315 commonName VAR_015315 VAR_015315 disease phenotype-associated VAR_015315 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015316 commonName VAR_015316 VAR_015316 disease phenotype-associated VAR_015316 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015317 commonName VAR_015317 VAR_015317 disease phenotype-associated VAR_015317 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015318 commonName VAR_015318 VAR_015318 disease phenotype-associated VAR_015318 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015319 commonName VAR_015319 VAR_015319 disease phenotype-associated VAR_015319 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015320 commonName VAR_015320 VAR_015320 disease phenotype-associated VAR_015320 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015321 commonName VAR_015321 VAR_015321 disease phenotype-associated VAR_015321 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015322 commonName VAR_015322 VAR_015322 disease phenotype-associated VAR_015322 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015323 commonName VAR_015323 VAR_015323 disease not phenotype-associated VAR_015324 commonName VAR_015324 VAR_015324 disease phenotype-associated VAR_015324 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015325 commonName VAR_015325 VAR_015325 disease phenotype-associated VAR_015325 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015326 commonName VAR_015326 VAR_015326 disease phenotype-associated VAR_015326 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015327 commonName VAR_015327 VAR_015327 disease phenotype-associated VAR_015327 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015328 commonName VAR_015328 VAR_015328 disease phenotype-associated VAR_015328 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015329 commonName VAR_015329 VAR_015329 disease phenotype-associated VAR_015329 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015330 commonName VAR_015330 VAR_015330 disease phenotype-associated VAR_015330 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015331 commonName VAR_015331 VAR_015331 disease phenotype-associated VAR_015331 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015332 commonName VAR_015332 VAR_015332 disease phenotype-associated VAR_015332 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015333 commonName VAR_015333 VAR_015333 disease phenotype-associated VAR_015333 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015334 commonName VAR_015334 VAR_015334 disease not phenotype-associated VAR_015335 commonName VAR_015335 VAR_015335 disease phenotype-associated VAR_015335 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015336 commonName VAR_015336 VAR_015336 disease phenotype-associated VAR_015336 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015337 commonName VAR_015337 VAR_015337 disease phenotype-associated VAR_015337 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015338 commonName VAR_015338 VAR_015338 disease not phenotype-associated VAR_015339 commonName VAR_015339 VAR_015339 disease phenotype-associated VAR_015339 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015340 commonName VAR_015340 VAR_015340 disease phenotype-associated VAR_015340 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015341 commonName VAR_015341 VAR_015341 disease phenotype-associated VAR_015341 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015342 commonName VAR_015342 VAR_015342 disease phenotype-associated VAR_015342 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015343 commonName VAR_015343 VAR_015343 disease phenotype-associated VAR_015343 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015344 commonName VAR_015344 VAR_015344 disease phenotype-associated VAR_015344 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015345 commonName VAR_015345 VAR_015345 disease phenotype-associated VAR_015345 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015346 commonName VAR_015346 VAR_015346 disease phenotype-associated VAR_015346 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015347 commonName VAR_015347 VAR_015347 disease phenotype-associated VAR_015347 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015348 commonName VAR_015348 VAR_015348 disease not phenotype-associated VAR_015349 commonName VAR_015349 VAR_015349 disease phenotype-associated VAR_015349 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015350 commonName VAR_015350 VAR_015350 disease phenotype-associated VAR_015350 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015351 commonName VAR_015351 VAR_015351 disease phenotype-associated VAR_015351 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015352 commonName VAR_015352 VAR_015352 disease phenotype-associated VAR_015352 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015353 commonName VAR_015353 VAR_015353 disease phenotype-associated VAR_015353 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015354 commonName VAR_015354 VAR_015354 disease phenotype-associated VAR_015354 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015355 commonName VAR_015355 VAR_015355 disease phenotype-associated VAR_015355 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_015356 commonName VAR_015356 VAR_015356 disease not phenotype-associated VAR_015357 commonName VAR_015357 VAR_015357 disease phenotype-associated VAR_015357 phenoCommon Obesity (OBESITY) [MIM:601665] VAR_015358 commonName VAR_015358 VAR_015358 disease not phenotype-associated VAR_015359 commonName VAR_015359 VAR_015359 disease not phenotype-associated VAR_015360 commonName VAR_015360 VAR_015360 disease not phenotype-associated VAR_015361 commonName VAR_015361 VAR_015361 disease not phenotype-associated VAR_015362 commonName VAR_015362 VAR_015362 disease not phenotype-associated VAR_015364 commonName VAR_015364 VAR_015364 disease not phenotype-associated VAR_015365 commonName VAR_015365 VAR_015365 disease not phenotype-associated VAR_015366 commonName VAR_015366 VAR_015366 disease not phenotype-associated VAR_015367 commonName VAR_015367 VAR_015367 disease not phenotype-associated VAR_015368 commonName VAR_015368 VAR_015368 disease not phenotype-associated VAR_015369 commonName VAR_015369 VAR_015369 disease not phenotype-associated VAR_015370 commonName VAR_015370 VAR_015370 disease not phenotype-associated VAR_015371 commonName VAR_015371 VAR_015371 disease not phenotype-associated VAR_015372 commonName VAR_015372 VAR_015372 disease not phenotype-associated VAR_015373 commonName VAR_015373 VAR_015373 disease phenotype-associated VAR_015373 phenoCommon Cone-rod dystrophy type 6 (CORD6) [MIM:601777] VAR_015374 commonName VAR_015374 VAR_015374 disease phenotype-associated VAR_015374 phenoCommon Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801] VAR_015374 phenoCommon Rippling muscle disease (RMD) [MIM:606072] VAR_015375 commonName VAR_015375 VAR_015375 disease phenotype-associated VAR_015375 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] VAR_015376 commonName VAR_015376 VAR_015376 disease phenotype-associated VAR_015376 phenoCommon Eosinophil peroxidase deficiency (EPD) [MIM:261500] VAR_015377 commonName VAR_015377 VAR_015377 disease phenotype-associated VAR_015377 phenoCommon Myeloperoxidase deficiency (MPOD) [MIM:254600] VAR_015378 commonName VAR_015378 VAR_015378 disease phenotype-associated VAR_015378 phenoCommon Myeloperoxidase deficiency (MPOD) [MIM:254600] VAR_015379 commonName VAR_015379 VAR_015379 disease phenotype-associated VAR_015379 phenoCommon Myeloperoxidase deficiency (MPOD) [MIM:254600] VAR_015380 commonName VAR_015380 VAR_015380 disease not phenotype-associated VAR_015381 commonName VAR_015381 VAR_015381 disease phenotype-associated VAR_015381 phenoCommon Holt-Oram syndrome (HOS) [MIM:142900] VAR_015382 commonName VAR_015382 VAR_015382 disease phenotype-associated VAR_015382 phenoCommon Holt-Oram syndrome (HOS) [MIM:142900] VAR_015383 commonName VAR_015383 VAR_015383 disease phenotype-associated VAR_015383 phenoCommon X-linked cleft palate with ankyloglossia (CPX) [MIM:303400] VAR_015384 commonName VAR_015384 VAR_015384 disease phenotype-associated VAR_015384 phenoCommon X-linked cleft palate with ankyloglossia (CPX) [MIM:303400] VAR_015385 commonName VAR_015385 VAR_015385 disease not phenotype-associated VAR_015386 commonName VAR_015386 VAR_015386 disease phenotype-associated VAR_015386 phenoCommon Cryptorchidism (CRYPTO) [MIM:219050] VAR_015387 commonName VAR_015387 VAR_015387 disease not phenotype-associated VAR_015388 commonName VAR_015388 VAR_015388 disease phenotype-associated VAR_015388 phenoCommon Albright hereditary osteodystrophy (AHO) [MIM:103580] VAR_015389 commonName VAR_015389 VAR_015389 disease not phenotype-associated VAR_015390 commonName VAR_015390 VAR_015390 disease phenotype-associated VAR_015390 phenoCommon Shwachman-Diamond syndrome (SDS) [MIM:260400] VAR_015391 commonName VAR_015391 VAR_015391 disease phenotype-associated VAR_015391 phenoCommon Shwachman-Diamond syndrome (SDS) [MIM:260400] VAR_015392 commonName VAR_015392 VAR_015392 disease phenotype-associated VAR_015392 phenoCommon Shwachman-Diamond syndrome (SDS) [MIM:260400] VAR_015393 commonName VAR_015393 VAR_015393 disease phenotype-associated VAR_015393 phenoCommon Shwachman-Diamond syndrome (SDS) [MIM:260400] VAR_015394 commonName VAR_015394 VAR_015394 disease phenotype-associated VAR_015394 phenoCommon Shwachman-Diamond syndrome (SDS) [MIM:260400] VAR_015395 commonName VAR_015395 VAR_015395 disease phenotype-associated VAR_015395 phenoCommon Shwachman-Diamond syndrome (SDS) [MIM:260400] VAR_015396 commonName VAR_015396 VAR_015396 disease phenotype-associated VAR_015396 phenoCommon Shwachman-Diamond syndrome (SDS) [MIM:260400] VAR_015397 commonName VAR_015397 VAR_015397 disease phenotype-associated VAR_015397 phenoCommon Cardiomyopathy dilated type 1N (CMD1N) [MIM:607487] VAR_015398 commonName VAR_015398 VAR_015398 disease phenotype-associated VAR_015398 phenoCommon Lissencephaly type 1 (LIS1) [MIM:607432] VAR_015399 commonName VAR_015399 VAR_015399 disease phenotype-associated VAR_015399 phenoCommon Lissencephaly type 1 (LIS1) [MIM:607432] VAR_015400 commonName VAR_015400 VAR_015400 disease phenotype-associated VAR_015400 phenoCommon Lissencephaly type 1 (LIS1) [MIM:607432] VAR_015401 commonName VAR_015401 VAR_015401 disease phenotype-associated VAR_015401 phenoCommon Cardiomyopathy dilated type 1M (CMD1M) [MIM:607482] VAR_015402 commonName VAR_015402 VAR_015402 disease phenotype-associated VAR_015402 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 8 (ARVD8) [MIM:607450] VAR_015403 commonName VAR_015403 VAR_015403 disease phenotype-associated VAR_015403 phenoCommon Hemolytic anemia (HAGGSD) [MIM:230450] VAR_015404 commonName VAR_015404 VAR_015404 disease phenotype-associated VAR_015404 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_015405 commonName VAR_015405 VAR_015405 disease phenotype-associated VAR_015405 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_015406 commonName VAR_015406 VAR_015406 disease not phenotype-associated VAR_015407 commonName VAR_015407 VAR_015407 disease phenotype-associated VAR_015407 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_015408 commonName VAR_015408 VAR_015408 disease phenotype-associated VAR_015408 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_015409 commonName VAR_015409 VAR_015409 disease phenotype-associated VAR_015409 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_015410 commonName VAR_015410 VAR_015410 disease phenotype-associated VAR_015410 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_015411 commonName VAR_015411 VAR_015411 disease phenotype-associated VAR_015411 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810] VAR_015412 commonName VAR_015412 VAR_015412 disease phenotype-associated VAR_015412 phenoCommon Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000] VAR_015412 phenoCommon Ehlers-Danlos syndrome type 2 (EDS2) [MIM:130010] VAR_015413 commonName VAR_015413 VAR_015413 disease phenotype-associated VAR_015413 phenoCommon Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000] VAR_015414 commonName VAR_015414 VAR_015414 disease phenotype-associated VAR_015414 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200] VAR_015415 commonName VAR_015415 VAR_015415 disease not phenotype-associated VAR_015416 commonName VAR_015416 VAR_015416 disease not phenotype-associated VAR_015417 commonName VAR_015417 VAR_015417 disease not phenotype-associated VAR_015418 commonName VAR_015418 VAR_015418 disease not phenotype-associated VAR_015419 commonName VAR_015419 VAR_015419 disease not phenotype-associated VAR_015420 commonName VAR_015420 VAR_015420 disease not phenotype-associated VAR_015421 commonName VAR_015421 VAR_015421 disease not phenotype-associated VAR_015422 commonName VAR_015422 VAR_015422 disease phenotype-associated VAR_015422 phenoCommon Hypotrichosis with juvenile macular dystrophy (HJMD) [MIM:601553] VAR_015423 commonName VAR_015423 VAR_015423 disease phenotype-associated VAR_015423 phenoCommon Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600] VAR_015424 commonName VAR_015424 VAR_015424 disease not phenotype-associated VAR_015425 commonName VAR_015425 VAR_015425 disease not phenotype-associated VAR_015426 commonName VAR_015426 VAR_015426 disease not phenotype-associated VAR_015427 commonName VAR_015427 VAR_015428 commonName VAR_015428 VAR_015428 disease phenotype-associated VAR_015428 phenoCommon Aspartylglucosaminuria (AGU) [MIM:208400] VAR_015429 commonName VAR_015429 VAR_015429 disease phenotype-associated VAR_015429 phenoCommon Aspartylglucosaminuria (AGU) [MIM:208400] VAR_015430 commonName VAR_015430 VAR_015430 disease phenotype-associated VAR_015430 phenoCommon Aspartylglucosaminuria (AGU) [MIM:208400] VAR_015431 commonName VAR_015431 VAR_015431 disease phenotype-associated VAR_015431 phenoCommon Aspartylglucosaminuria (AGU) [MIM:208400] VAR_015432 commonName VAR_015432 VAR_015432 disease phenotype-associated VAR_015432 phenoCommon Aspartylglucosaminuria (AGU) [MIM:208400] VAR_015433 commonName VAR_015433 VAR_015433 disease phenotype-associated VAR_015433 phenoCommon GK deficiency (GKD) [MIM:307030] VAR_015434 commonName VAR_015434 VAR_015434 disease not phenotype-associated VAR_015435 commonName VAR_015435 VAR_015435 disease not phenotype-associated VAR_015436 commonName VAR_015436 VAR_015436 disease phenotype-associated VAR_015436 phenoCommon Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:300818] VAR_015437 commonName VAR_015437 VAR_015437 disease phenotype-associated VAR_015437 phenoCommon Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:300818] VAR_015438 commonName VAR_015438 VAR_015438 disease phenotype-associated VAR_015438 phenoCommon Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:300818] VAR_015439 commonName VAR_015439 VAR_015439 disease phenotype-associated VAR_015439 phenoCommon Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:300818] VAR_015440 commonName VAR_015440 VAR_015440 disease phenotype-associated VAR_015440 phenoCommon Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:300818] VAR_015441 commonName VAR_015441 VAR_015441 disease phenotype-associated VAR_015441 phenoCommon Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:300818] VAR_015442 commonName VAR_015442 VAR_015442 disease phenotype-associated VAR_015442 phenoCommon Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:300818] VAR_015443 commonName VAR_015443 VAR_015443 disease not phenotype-associated VAR_015444 commonName VAR_015444 VAR_015444 disease not phenotype-associated VAR_015445 commonName VAR_015445 VAR_015445 disease phenotype-associated VAR_015445 phenoCommon Tyrosinemia type 3 (TYRO3) [MIM:276710] VAR_015446 commonName VAR_015446 VAR_015446 disease not phenotype-associated VAR_015447 commonName VAR_015447 VAR_015447 disease phenotype-associated VAR_015447 phenoCommon Tyrosinemia type 3 (TYRO3) [MIM:276710] VAR_015448 commonName VAR_015448 VAR_015448 disease phenotype-associated VAR_015448 phenoCommon Tyrosinemia type 3 (TYRO3) [MIM:276710] VAR_015449 commonName VAR_015449 VAR_015449 disease not phenotype-associated VAR_015450 commonName VAR_015450 VAR_015450 disease phenotype-associated VAR_015450 phenoCommon Cystathioninuria (CSTNU) [MIM:219500] VAR_015451 commonName VAR_015451 VAR_015451 disease phenotype-associated VAR_015451 phenoCommon Cystathioninuria (CSTNU) [MIM:219500] VAR_015452 commonName VAR_015452 VAR_015452 disease not phenotype-associated VAR_015453 commonName VAR_015453 VAR_015453 disease phenotype-associated VAR_015453 phenoCommon Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210] VAR_015454 commonName VAR_015454 VAR_015454 disease phenotype-associated VAR_015454 phenoCommon Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210] VAR_015455 commonName VAR_015455 VAR_015456 commonName VAR_015456 VAR_015456 disease phenotype-associated VAR_015456 phenoCommon Ichthyosis hystrix-like with deafness syndrome (HID syndrome) [MIM:602540] VAR_015456 phenoCommon Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210] VAR_015457 commonName VAR_015457 VAR_015458 commonName VAR_015458 VAR_015458 disease phenotype-associated VAR_015458 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] VAR_015459 commonName VAR_015459 VAR_015459 disease not phenotype-associated VAR_015460 commonName VAR_015460 VAR_015460 disease phenotype-associated VAR_015460 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] VAR_015461 commonName VAR_015461 VAR_015461 disease not phenotype-associated VAR_015463 commonName VAR_015463 VAR_015463 disease not phenotype-associated VAR_015464 commonName VAR_015464 VAR_015464 disease not phenotype-associated VAR_015465 commonName VAR_015465 VAR_015465 disease not phenotype-associated VAR_015466 commonName VAR_015466 VAR_015466 disease not phenotype-associated VAR_015468 commonName VAR_015468 VAR_015468 disease not phenotype-associated VAR_015470 commonName VAR_015470 VAR_015470 disease not phenotype-associated VAR_015471 commonName VAR_015471 VAR_015471 disease not phenotype-associated VAR_015472 commonName VAR_015472 VAR_015472 disease not phenotype-associated VAR_015473 commonName VAR_015473 VAR_015473 disease not phenotype-associated VAR_015474 commonName VAR_015474 VAR_015474 disease not phenotype-associated VAR_015475 commonName VAR_015475 VAR_015475 disease not phenotype-associated VAR_015477 commonName VAR_015477 VAR_015477 disease not phenotype-associated VAR_015478 commonName VAR_015478 VAR_015478 disease not phenotype-associated VAR_015479 commonName VAR_015479 VAR_015479 disease not phenotype-associated VAR_015480 commonName VAR_015480 VAR_015483 commonName VAR_015483 VAR_015483 disease not phenotype-associated VAR_015484 commonName VAR_015484 VAR_015484 disease not phenotype-associated VAR_015485 commonName VAR_015485 VAR_015485 disease not phenotype-associated VAR_015486 commonName VAR_015486 VAR_015487 commonName VAR_015487 VAR_015487 disease not phenotype-associated VAR_015488 commonName VAR_015488 VAR_015489 commonName VAR_015489 VAR_015489 disease not phenotype-associated VAR_015490 commonName VAR_015490 VAR_015490 disease not phenotype-associated VAR_015492 commonName VAR_015492 VAR_015492 disease not phenotype-associated VAR_015493 commonName VAR_015493 VAR_015493 disease not phenotype-associated VAR_015494 commonName VAR_015494 VAR_015494 disease not phenotype-associated VAR_015495 commonName VAR_015495 VAR_015495 disease not phenotype-associated VAR_015497 commonName VAR_015497 VAR_015497 disease not phenotype-associated VAR_015498 commonName VAR_015498 VAR_015498 disease not phenotype-associated VAR_015499 commonName VAR_015499 VAR_015499 disease not phenotype-associated VAR_015500 commonName VAR_015500 VAR_015500 disease not phenotype-associated VAR_015501 commonName VAR_015501 VAR_015501 disease not phenotype-associated VAR_015502 commonName VAR_015502 VAR_015502 disease not phenotype-associated VAR_015503 commonName VAR_015503 VAR_015503 disease not phenotype-associated VAR_015504 commonName VAR_015504 VAR_015504 disease not phenotype-associated VAR_015505 commonName VAR_015505 VAR_015505 disease not phenotype-associated VAR_015506 commonName VAR_015506 VAR_015506 disease not phenotype-associated VAR_015507 commonName VAR_015507 VAR_015507 disease not phenotype-associated VAR_015508 commonName VAR_015508 VAR_015508 disease not phenotype-associated VAR_015509 commonName VAR_015509 VAR_015509 disease not phenotype-associated VAR_015510 commonName VAR_015510 VAR_015510 disease not phenotype-associated HbVar.677 commonName Hb A2-Manzanares VAR_015511 commonName VAR_015511 VAR_015512 commonName VAR_015512 VAR_015512 disease not phenotype-associated VAR_015513 commonName VAR_015513 VAR_015513 disease not phenotype-associated VAR_015514 commonName VAR_015514 VAR_015514 disease not phenotype-associated VAR_015515 commonName VAR_015515 VAR_015516 commonName VAR_015516 VAR_015516 disease not phenotype-associated VAR_015517 commonName VAR_015517 VAR_015517 disease not phenotype-associated VAR_015518 commonName VAR_015518 VAR_015518 disease not phenotype-associated VAR_015519 commonName VAR_015519 VAR_015519 disease phenotype-associated VAR_015519 phenoCommon Nail disorder non-syndromic congenital type 8 (NDNC8) [MIM:607523] VAR_015520 commonName VAR_015520 VAR_015520 disease phenotype-associated VAR_015520 phenoCommon Nail disorder non-syndromic congenital type 8 (NDNC8) [MIM:607523] VAR_015521 commonName VAR_015521 VAR_015521 disease not phenotype-associated VAR_015522 commonName VAR_015522 VAR_015522 disease not phenotype-associated VAR_015523 commonName VAR_015523 VAR_015523 disease not phenotype-associated VAR_015524 commonName VAR_015524 VAR_015524 disease not phenotype-associated VAR_015525 commonName VAR_015525 VAR_015525 disease phenotype-associated VAR_015525 phenoCommon Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550] VAR_015526 commonName VAR_015526 VAR_015526 disease phenotype-associated VAR_015526 phenoCommon Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550] VAR_015527 commonName VAR_015527 VAR_015527 disease phenotype-associated VAR_015527 phenoCommon Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550] VAR_015528 commonName VAR_015528 VAR_015528 disease phenotype-associated VAR_015528 phenoCommon Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550] VAR_015529 commonName VAR_015529 VAR_015529 disease phenotype-associated VAR_015529 phenoCommon Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550] VAR_015530 commonName VAR_015530 VAR_015530 disease phenotype-associated VAR_015530 phenoCommon Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550] VAR_015531 commonName VAR_015531 VAR_015531 disease phenotype-associated VAR_015531 phenoCommon Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550] VAR_015532 commonName VAR_015532 VAR_015532 disease phenotype-associated VAR_015532 phenoCommon Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550] VAR_015533 commonName VAR_015533 VAR_015533 disease phenotype-associated VAR_015533 phenoCommon Juvenile polyposis syndrome (JPS) [MIM:174900] VAR_015534 commonName VAR_015534 VAR_015534 disease phenotype-associated VAR_015534 phenoCommon Cowden disease (CD) [MIM:158350] VAR_015535 commonName VAR_015535 VAR_015535 disease phenotype-associated VAR_015535 phenoCommon Juvenile polyposis syndrome (JPS) [MIM:174900] VAR_015536 commonName VAR_015536 VAR_015536 disease phenotype-associated VAR_015536 phenoCommon Glycogen storage disease type 9B (GSD9B) [MIM:261750] VAR_015537 commonName VAR_015537 VAR_015537 disease not phenotype-associated VAR_015539 commonName VAR_015539 VAR_015539 disease phenotype-associated VAR_015539 phenoCommon Leprechaunism (LEPRCH) [MIM:246200] VAR_015540 commonName VAR_015540 VAR_015540 disease phenotype-associated VAR_015540 phenoCommon Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] VAR_015542 commonName VAR_015542 VAR_015542 disease phenotype-associated VAR_015542 phenoCommon Leprechaunism (LEPRCH) [MIM:246200] VAR_015543 commonName VAR_015543 VAR_015543 disease not phenotype-associated VAR_015544 commonName VAR_015544 VAR_015544 disease not phenotype-associated VAR_015545 commonName VAR_015545 VAR_015545 disease not phenotype-associated VAR_015546 commonName VAR_015546 VAR_015546 disease not phenotype-associated VAR_015547 commonName VAR_015547 VAR_015547 disease not phenotype-associated VAR_015548 commonName VAR_015548 VAR_015548 disease not phenotype-associated VAR_015549 commonName VAR_015549 VAR_015549 disease not phenotype-associated VAR_015550 commonName VAR_015550 VAR_015550 disease phenotype-associated VAR_015550 phenoCommon Bare lymphocyte syndrome type 2 (BLS2) [MIM:209920] VAR_015551 commonName VAR_015551 VAR_015551 disease phenotype-associated VAR_015551 phenoCommon Bare lymphocyte syndrome type 2 (BLS2) [MIM:209920] VAR_015552 commonName VAR_015552 VAR_015552 disease not phenotype-associated VAR_015556 commonName VAR_015556 VAR_015556 disease not phenotype-associated VAR_015557 commonName VAR_015557 VAR_015557 disease not phenotype-associated VAR_015558 commonName VAR_015558 VAR_015558 disease not phenotype-associated VAR_015559 commonName VAR_015559 VAR_015559 disease not phenotype-associated VAR_015560 commonName VAR_015560 VAR_015560 disease phenotype-associated VAR_015560 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850] VAR_015561 commonName VAR_015561 VAR_015561 disease phenotype-associated VAR_015561 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_015562 commonName VAR_015562 VAR_015562 disease phenotype-associated VAR_015562 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_015568 commonName VAR_015568 VAR_015568 disease not phenotype-associated VAR_015569 commonName VAR_015569 VAR_015569 disease phenotype-associated VAR_015569 phenoCommon Skin fragility-woolly hair syndrome (SFWHS) [MIM:607655] VAR_015570 commonName VAR_015570 VAR_015570 disease phenotype-associated VAR_015570 phenoCommon Skin fragility-woolly hair syndrome (SFWHS) [MIM:607655] VAR_015574 commonName VAR_015574 VAR_015574 disease phenotype-associated VAR_015574 phenoCommon Oral-facial-digital syndrome type 1 (OFD1) [MIM:311200] VAR_015575 commonName VAR_015575 VAR_015575 disease not phenotype-associated VAR_015576 commonName VAR_015576 VAR_015576 disease phenotype-associated VAR_015576 phenoCommon Inosine triphosphate pyrophosphohydrolase deficiency (ITPAD) [MIM:613850] VAR_015577 commonName VAR_015577 VAR_015577 disease phenotype-associated VAR_015577 phenoCommon Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950] VAR_015578 commonName VAR_015578 VAR_015578 disease phenotype-associated VAR_015578 phenoCommon Rubinstein-Taybi syndrome type 1 (RSTS1) [MIM:180849] VAR_015579 commonName VAR_015579 VAR_015579 disease phenotype-associated VAR_015579 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_015580 commonName VAR_015580 VAR_015580 disease phenotype-associated VAR_015580 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_015581 commonName VAR_015581 VAR_015581 disease phenotype-associated VAR_015581 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_015582 commonName VAR_015582 VAR_015582 disease phenotype-associated VAR_015582 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_015583 commonName VAR_015583 VAR_015583 disease phenotype-associated VAR_015583 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_015584 commonName VAR_015584 VAR_015584 disease phenotype-associated VAR_015584 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_015585 commonName VAR_015585 VAR_015585 disease phenotype-associated VAR_015585 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_015586 commonName VAR_015586 VAR_015586 disease phenotype-associated VAR_015586 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_015587 commonName VAR_015587 VAR_015587 disease phenotype-associated VAR_015587 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_015588 commonName VAR_015588 VAR_015588 disease phenotype-associated VAR_015588 phenoCommon Brody myopathy (BRM) [MIM:601003] VAR_015589 commonName VAR_015589 VAR_015589 disease phenotype-associated VAR_015589 phenoCommon Hepatocellular carcinoma (HCC) [MIM:114550] VAR_015590 commonName VAR_015590 VAR_015590 disease phenotype-associated VAR_015590 phenoCommon Hepatocellular carcinoma (HCC) [MIM:114550] VAR_015591 commonName VAR_015591 VAR_015591 disease phenotype-associated VAR_015591 phenoCommon Hepatocellular carcinoma (HCC) [MIM:114550] VAR_015592 commonName VAR_015592 VAR_015592 disease phenotype-associated VAR_015592 phenoCommon Hepatocellular carcinoma (HCC) [MIM:114550] VAR_015593 commonName VAR_015593 VAR_015593 disease not phenotype-associated VAR_015594 commonName VAR_015594 VAR_015594 disease phenotype-associated VAR_015594 phenoCommon Argininemia (ARGIN) [MIM:207800] VAR_015595 commonName VAR_015595 VAR_015595 disease phenotype-associated VAR_015595 phenoCommon Argininemia (ARGIN) [MIM:207800] VAR_015596 commonName VAR_015596 VAR_015596 disease not phenotype-associated VAR_015597 commonName VAR_015597 VAR_015597 disease not phenotype-associated VAR_015598 commonName VAR_015598 VAR_015598 disease not phenotype-associated VAR_015599 commonName VAR_015599 VAR_015599 disease not phenotype-associated VAR_015600 commonName VAR_015600 VAR_015600 disease not phenotype-associated VAR_015628 commonName VAR_015628 VAR_015628 disease not phenotype-associated VAR_015629 commonName VAR_015629 VAR_015629 disease not phenotype-associated VAR_015630 commonName VAR_015630 VAR_015630 disease not phenotype-associated VAR_015635 commonName VAR_015635 VAR_015635 disease phenotype-associated VAR_015635 phenoCommon Apparent mineralocorticoid excess (AME) [MIM:218030] VAR_015636 commonName VAR_015636 VAR_015636 disease phenotype-associated VAR_015636 phenoCommon Apparent mineralocorticoid excess (AME) [MIM:218030] VAR_015637 commonName VAR_015637 VAR_015637 disease phenotype-associated VAR_015637 phenoCommon Apparent mineralocorticoid excess (AME) [MIM:218030] VAR_015638 commonName VAR_015638 VAR_015638 disease phenotype-associated VAR_015638 phenoCommon Apparent mineralocorticoid excess (AME) [MIM:218030] VAR_015639 commonName VAR_015639 VAR_015640 commonName VAR_015640 VAR_015640 disease phenotype-associated VAR_015640 phenoCommon Apparent mineralocorticoid excess (AME) [MIM:218030] VAR_015641 commonName VAR_015641 VAR_015641 disease phenotype-associated VAR_015641 phenoCommon Apparent mineralocorticoid excess (AME) [MIM:218030] VAR_015642 commonName VAR_015642 VAR_015642 disease phenotype-associated VAR_015642 phenoCommon Apparent mineralocorticoid excess (AME) [MIM:218030] VAR_015644 commonName VAR_015644 VAR_015644 disease phenotype-associated VAR_015644 phenoCommon Apparent mineralocorticoid excess (AME) [MIM:218030] VAR_015645 commonName VAR_015645 VAR_015645 disease phenotype-associated VAR_015645 phenoCommon Apparent mineralocorticoid excess (AME) [MIM:218030] VAR_015646 commonName VAR_015646 VAR_015646 disease phenotype-associated VAR_015646 phenoCommon Apparent mineralocorticoid excess (AME) [MIM:218030] VAR_015648 commonName VAR_015648 VAR_015648 disease phenotype-associated VAR_015648 phenoCommon Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] VAR_015649 commonName VAR_015649 VAR_015649 disease not phenotype-associated VAR_015650 commonName VAR_015650 VAR_015650 disease not phenotype-associated VAR_015652 commonName VAR_015652 VAR_015652 disease not phenotype-associated VAR_015653 commonName VAR_015653 VAR_015653 disease not phenotype-associated VAR_015654 commonName VAR_015654 VAR_015654 disease not phenotype-associated VAR_015655 commonName VAR_015655 VAR_015655 disease not phenotype-associated VAR_015656 commonName VAR_015656 VAR_015656 disease not phenotype-associated VAR_015663 commonName VAR_015663 VAR_015663 disease not phenotype-associated VAR_015664 commonName VAR_015664 VAR_015664 disease not phenotype-associated VAR_015665 commonName VAR_015665 VAR_015665 disease not phenotype-associated VAR_015666 commonName VAR_015666 VAR_015666 disease not phenotype-associated VAR_015667 commonName VAR_015667 VAR_015667 disease not phenotype-associated VAR_015668 commonName VAR_015668 VAR_015668 disease phenotype-associated VAR_015668 phenoCommon Autism X-linked type 1 (AUTSX1) [MIM:300425] VAR_015668 phenoCommon X-linked Asperger syndrome 1 (ASPGX1) [MIM:300494] VAR_015669 commonName VAR_015669 VAR_015669 disease phenotype-associated VAR_015669 phenoCommon Mental retardation X-linked ARX-related (MRXARX) [MIM:300419] VAR_015671 commonName VAR_015671 VAR_015671 disease phenotype-associated VAR_015671 phenoCommon Mental retardation X-linked ARX-related (MRXARX) [MIM:300419] VAR_015672 commonName VAR_015672 VAR_015672 disease not phenotype-associated VAR_015673 commonName VAR_015673 VAR_015673 disease not phenotype-associated VAR_015674 commonName VAR_015674 VAR_015674 disease phenotype-associated VAR_015674 phenoCommon Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240] VAR_015675 commonName VAR_015675 VAR_015675 disease phenotype-associated VAR_015675 phenoCommon Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240] VAR_015676 commonName VAR_015676 VAR_015676 disease phenotype-associated VAR_015676 phenoCommon Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240] VAR_015677 commonName VAR_015677 VAR_015677 disease not phenotype-associated VAR_015678 commonName VAR_015678 VAR_015678 disease phenotype-associated VAR_015678 phenoCommon Parkinson disease type 5 (PARK5) [MIM:613643] VAR_015679 commonName VAR_015679 VAR_015679 disease not phenotype-associated VAR_015680 commonName VAR_015680 VAR_015680 disease phenotype-associated VAR_015680 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850] VAR_015681 commonName VAR_015681 VAR_015681 disease phenotype-associated VAR_015681 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850] VAR_015682 commonName VAR_015682 VAR_015682 disease phenotype-associated VAR_015682 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_015683 commonName VAR_015683 VAR_015683 disease phenotype-associated VAR_015683 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780] VAR_015686 commonName VAR_015686 VAR_015686 disease phenotype-associated VAR_015686 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780] VAR_015687 comment Pancreatic cancer VAR_015687 commonName VAR_015687 VAR_015688 comment Pancreatic cancer VAR_015688 commonName VAR_015688 VAR_015689 commonName VAR_015689 VAR_015689 disease phenotype-associated VAR_015689 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_015690 commonName VAR_015690 VAR_015690 disease not phenotype-associated VAR_015691 commonName VAR_015691 VAR_015691 disease not phenotype-associated VAR_015692 commonName VAR_015692 VAR_015692 disease not phenotype-associated VAR_015693 commonName VAR_015693 VAR_015693 disease not phenotype-associated VAR_015694 commonName VAR_015694 VAR_015694 disease not phenotype-associated VAR_015695 commonName VAR_015695 VAR_015695 disease not phenotype-associated VAR_015696 commonName VAR_015696 VAR_015696 disease phenotype-associated VAR_015696 phenoCommon Ectodermal dysplasia type 2 (ED2) [MIM:129500] VAR_015697 commonName VAR_015697 VAR_015697 disease phenotype-associated VAR_015697 phenoCommon Ectodermal dysplasia type 2 (ED2) [MIM:129500] VAR_015698 commonName VAR_015698 VAR_015698 disease phenotype-associated VAR_015698 phenoCommon Tooth agenesis selective type 3 (STHAG3) [MIM:604625] VAR_015699 commonName VAR_015699 VAR_015699 disease phenotype-associated VAR_015699 phenoCommon Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049] VAR_015700 commonName VAR_015700 VAR_015700 disease phenotype-associated VAR_015700 phenoCommon Otopalatodigital syndrome type 1 (OPD1) [MIM:311300] VAR_015701 commonName VAR_015701 VAR_015701 disease phenotype-associated VAR_015701 phenoCommon Otopalatodigital syndrome type 2 (OPD2) [MIM:304120] VAR_015702 commonName VAR_015702 VAR_015702 disease phenotype-associated VAR_015702 phenoCommon Frontometaphyseal dysplasia (FMD) [MIM:305620] VAR_015703 commonName VAR_015703 VAR_015703 disease phenotype-associated VAR_015703 phenoCommon Melnick-Needles syndrome (MNS) [MIM:309350] VAR_015704 commonName VAR_015704 VAR_015704 disease phenotype-associated VAR_015704 phenoCommon Melnick-Needles syndrome (MNS) [MIM:309350] VAR_015705 commonName VAR_015705 VAR_015705 disease not phenotype-associated VAR_015706 commonName VAR_015706 VAR_015706 disease not phenotype-associated VAR_015707 commonName VAR_015707 VAR_015707 disease not phenotype-associated VAR_015708 commonName VAR_015708 VAR_015708 disease not phenotype-associated VAR_015709 commonName VAR_015709 VAR_015709 disease not phenotype-associated VAR_015710 commonName VAR_015710 VAR_015710 disease not phenotype-associated VAR_015711 commonName VAR_015711 VAR_015711 disease not phenotype-associated VAR_015712 commonName VAR_015712 VAR_015712 disease phenotype-associated VAR_015712 phenoCommon Tooth agenesis selective type 1 (STHAG1) [MIM:106600] VAR_015713 commonName VAR_015713 VAR_015713 disease phenotype-associated VAR_015713 phenoCommon Otopalatodigital syndrome type 2 (OPD2) [MIM:304120] VAR_015714 commonName VAR_015714 VAR_015714 disease phenotype-associated VAR_015714 phenoCommon Otopalatodigital syndrome type 1 (OPD1) [MIM:311300] VAR_015715 commonName VAR_015715 VAR_015715 disease phenotype-associated VAR_015715 phenoCommon Otopalatodigital syndrome type 2 (OPD2) [MIM:304120] VAR_015716 commonName VAR_015716 VAR_015716 disease phenotype-associated VAR_015716 phenoCommon Otopalatodigital syndrome type 1 (OPD1) [MIM:311300] VAR_015717 commonName VAR_015717 VAR_015717 disease phenotype-associated VAR_015717 phenoCommon Otopalatodigital syndrome type 2 (OPD2) [MIM:304120] VAR_015718 commonName VAR_015718 VAR_015718 disease phenotype-associated VAR_015718 phenoCommon Otopalatodigital syndrome type 2 (OPD2) [MIM:304120] VAR_015719 commonName VAR_015719 VAR_015719 disease phenotype-associated VAR_015719 phenoCommon Otopalatodigital syndrome type 2 (OPD2) [MIM:304120] VAR_015720 commonName VAR_015720 VAR_015720 disease phenotype-associated VAR_015720 phenoCommon Melnick-Needles syndrome (MNS) [MIM:309350] VAR_015721 commonName VAR_015721 VAR_015721 disease phenotype-associated VAR_015721 phenoCommon Frontometaphyseal dysplasia (FMD) [MIM:305620] VAR_015723 commonName VAR_015723 VAR_015723 disease phenotype-associated VAR_015723 phenoCommon Otopalatodigital syndrome type 2 (OPD2) [MIM:304120] VAR_015724 commonName VAR_015724 VAR_015724 disease phenotype-associated VAR_015724 phenoCommon Isolated sulfite oxidase deficiency (ISOD) [MIM:272300] VAR_015725 commonName VAR_015725 VAR_015725 disease phenotype-associated VAR_015725 phenoCommon Isolated sulfite oxidase deficiency (ISOD) [MIM:272300] VAR_015726 commonName VAR_015726 VAR_015726 disease phenotype-associated VAR_015726 phenoCommon Isolated sulfite oxidase deficiency (ISOD) [MIM:272300] VAR_015727 commonName VAR_015727 VAR_015727 disease phenotype-associated VAR_015727 phenoCommon Isolated sulfite oxidase deficiency (ISOD) [MIM:272300] VAR_015728 commonName VAR_015728 VAR_015728 disease phenotype-associated VAR_015728 phenoCommon Isolated sulfite oxidase deficiency (ISOD) [MIM:272300] VAR_015729 commonName VAR_015729 VAR_015729 disease phenotype-associated VAR_015729 phenoCommon Isolated sulfite oxidase deficiency (ISOD) [MIM:272300] VAR_015730 commonName VAR_015730 VAR_015730 disease phenotype-associated VAR_015730 phenoCommon Isolated sulfite oxidase deficiency (ISOD) [MIM:272300] VAR_015731 commonName VAR_015731 VAR_015731 disease phenotype-associated VAR_015731 phenoCommon Methylcobalamin deficiency type E (cblE) [MIM:236270] VAR_015732 commonName VAR_015732 VAR_015732 disease not phenotype-associated VAR_015733 commonName VAR_015733 VAR_015733 disease phenotype-associated VAR_015733 phenoCommon Recessive hereditary megaloblastic anemia 1 (RH-MGA1) [MIM:261100] VAR_015734 commonName VAR_015734 VAR_015734 disease phenotype-associated VAR_015734 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A1 (MDDGA1) [MIM:236670] VAR_015735 commonName VAR_015735 VAR_015735 disease phenotype-associated VAR_015735 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A1 (MDDGA1) [MIM:236670] VAR_015736 commonName VAR_015736 VAR_015736 disease not phenotype-associated VAR_015737 commonName VAR_015737 VAR_015737 disease not phenotype-associated VAR_015738 commonName VAR_015738 VAR_015738 disease phenotype-associated VAR_015738 phenoCommon Pycnodysostosis (PKND) [MIM:265800] VAR_015739 commonName VAR_015739 VAR_015739 disease phenotype-associated VAR_015739 phenoCommon Pycnodysostosis (PKND) [MIM:265800] VAR_015740 commonName VAR_015740 VAR_015741 commonName VAR_015741 VAR_015741 disease phenotype-associated VAR_015741 phenoCommon Dominant optic atrophy plus syndrome (DOA+) [MIM:125250] VAR_015741 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_015742 commonName VAR_015742 VAR_015742 disease phenotype-associated VAR_015742 phenoCommon Familial atrial fibrillation type 3 (ATFB3) [MIM:607554] VAR_015743 commonName VAR_015743 VAR_015743 disease phenotype-associated VAR_015743 phenoCommon Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) [MIM:607855] VAR_015744 commonName VAR_015744 VAR_015744 disease phenotype-associated VAR_015744 phenoCommon Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) [MIM:607855] VAR_015745 commonName VAR_015745 VAR_015745 disease phenotype-associated VAR_015745 phenoCommon Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) [MIM:607855] VAR_015746 commonName VAR_015746 VAR_015746 disease phenotype-associated VAR_015746 phenoCommon Galactosemia II (GALCT2) [MIM:230200] VAR_015747 commonName VAR_015747 VAR_015747 disease phenotype-associated VAR_015747 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_015748 commonName VAR_015748 VAR_015748 disease phenotype-associated VAR_015748 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_015749 commonName VAR_015749 VAR_015749 disease phenotype-associated VAR_015749 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_015750 commonName VAR_015750 VAR_015750 disease phenotype-associated VAR_015750 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_015751 commonName VAR_015751 VAR_015751 disease phenotype-associated VAR_015751 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_015752 commonName VAR_015752 VAR_015752 disease phenotype-associated VAR_015752 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_015753 commonName VAR_015753 VAR_015753 disease phenotype-associated VAR_015753 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_015755 commonName VAR_015755 VAR_015755 disease phenotype-associated VAR_015755 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_015756 commonName VAR_015756 VAR_015756 disease phenotype-associated VAR_015756 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_015757 commonName VAR_015757 VAR_015757 disease phenotype-associated VAR_015757 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_015758 commonName VAR_015758 VAR_015758 disease phenotype-associated VAR_015758 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_015759 commonName VAR_015759 VAR_015759 disease phenotype-associated VAR_015759 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_015760 commonName VAR_015760 VAR_015760 disease phenotype-associated VAR_015760 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_015761 commonName VAR_015761 VAR_015761 disease phenotype-associated VAR_015761 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_015762 commonName VAR_015762 VAR_015762 disease phenotype-associated VAR_015762 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_015763 commonName VAR_015763 VAR_015763 disease phenotype-associated VAR_015763 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_015764 commonName VAR_015764 VAR_015764 disease not phenotype-associated VAR_015771 commonName VAR_015771 VAR_015771 disease phenotype-associated VAR_015771 phenoCommon Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512] VAR_015772 commonName VAR_015772 VAR_015772 disease phenotype-associated VAR_015772 phenoCommon Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512] VAR_015773 commonName VAR_015773 VAR_015773 disease phenotype-associated VAR_015773 phenoCommon Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512] VAR_015774 commonName VAR_015774 VAR_015774 disease phenotype-associated VAR_015774 phenoCommon Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512] VAR_015775 commonName VAR_015775 VAR_015775 disease not phenotype-associated VAR_015776 commonName VAR_015776 VAR_015776 disease not phenotype-associated VAR_015777 commonName VAR_015777 VAR_015777 disease not phenotype-associated VAR_015778 commonName VAR_015778 VAR_015778 disease not phenotype-associated VAR_015779 commonName VAR_015779 VAR_015779 disease not phenotype-associated VAR_015780 commonName VAR_015780 VAR_015780 disease phenotype-associated VAR_015780 phenoCommon Sotos syndrome (SOTOSS) [MIM:117550] VAR_015781 commonName VAR_015781 VAR_015781 disease phenotype-associated VAR_015781 phenoCommon Sotos syndrome (SOTOSS) [MIM:117550] VAR_015782 commonName VAR_015782 VAR_015782 disease phenotype-associated VAR_015782 phenoCommon Sotos syndrome (SOTOSS) [MIM:117550] VAR_015783 commonName VAR_015783 VAR_015783 disease phenotype-associated VAR_015783 phenoCommon Sotos syndrome (SOTOSS) [MIM:117550] VAR_015784 commonName VAR_015784 VAR_015784 disease phenotype-associated VAR_015784 phenoCommon Sotos syndrome (SOTOSS) [MIM:117550] VAR_015785 commonName VAR_015785 VAR_015785 disease phenotype-associated VAR_015785 phenoCommon Sotos syndrome (SOTOSS) [MIM:117550] VAR_015786 commonName VAR_015786 VAR_015786 disease phenotype-associated VAR_015786 phenoCommon Sotos syndrome (SOTOSS) [MIM:117550] VAR_015787 commonName VAR_015787 VAR_015787 disease phenotype-associated VAR_015787 phenoCommon Sotos syndrome (SOTOSS) [MIM:117550] VAR_015788 commonName VAR_015788 VAR_015788 disease phenotype-associated VAR_015788 phenoCommon Weaver syndrome type 1 (WVS1) [MIM:277590] VAR_015789 commonName VAR_015789 VAR_015789 disease phenotype-associated VAR_015789 phenoCommon Sotos syndrome (SOTOSS) [MIM:117550] VAR_015790 commonName VAR_015790 VAR_015790 disease phenotype-associated VAR_015790 phenoCommon Sotos syndrome (SOTOSS) [MIM:117550] VAR_015791 commonName VAR_015791 VAR_015791 disease phenotype-associated VAR_015791 phenoCommon Sotos syndrome (SOTOSS) [MIM:117550] VAR_015792 commonName VAR_015792 VAR_015792 disease phenotype-associated VAR_015792 phenoCommon Weaver syndrome type 1 (WVS1) [MIM:277590] VAR_015793 commonName VAR_015793 VAR_015793 disease phenotype-associated VAR_015793 phenoCommon Weaver syndrome type 1 (WVS1) [MIM:277590] VAR_015794 commonName VAR_015794 VAR_015794 disease not phenotype-associated VAR_015795 commonName VAR_015795 VAR_015795 disease not phenotype-associated VAR_015796 commonName VAR_015796 VAR_015796 disease phenotype-associated VAR_015796 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] VAR_015797 commonName VAR_015797 VAR_015797 disease phenotype-associated VAR_015797 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] VAR_015798 commonName VAR_015798 VAR_015798 disease phenotype-associated VAR_015798 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] VAR_015799 commonName VAR_015799 VAR_015799 disease phenotype-associated VAR_015799 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] VAR_015800 commonName VAR_015800 VAR_015800 disease phenotype-associated VAR_015800 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] VAR_015801 commonName VAR_015801 VAR_015801 disease phenotype-associated VAR_015801 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] VAR_015802 commonName VAR_015802 VAR_015802 disease phenotype-associated VAR_015802 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] VAR_015803 commonName VAR_015803 VAR_015803 disease phenotype-associated VAR_015803 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] VAR_015804 commonName VAR_015804 VAR_015804 disease phenotype-associated VAR_015804 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] VAR_015805 commonName VAR_015805 VAR_015805 disease phenotype-associated VAR_015805 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] VAR_015806 commonName VAR_015806 VAR_015806 disease phenotype-associated VAR_015806 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] VAR_015807 commonName VAR_015807 VAR_015807 disease phenotype-associated VAR_015807 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] VAR_015808 commonName VAR_015808 VAR_015808 disease phenotype-associated VAR_015808 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] VAR_015809 commonName VAR_015809 VAR_015809 disease phenotype-associated VAR_015809 phenoCommon Kowarski syndrome (KWKS) [MIM:262650] VAR_015810 commonName VAR_015810 VAR_015810 disease phenotype-associated VAR_015810 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] VAR_015811 commonName VAR_015811 VAR_015811 disease phenotype-associated VAR_015811 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] VAR_015812 commonName VAR_015812 VAR_015812 disease phenotype-associated VAR_015812 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] VAR_015813 commonName VAR_015813 VAR_015813 disease phenotype-associated VAR_015813 phenoCommon Kowarski syndrome (KWKS) [MIM:262650] VAR_015814 commonName VAR_015814 VAR_015814 disease phenotype-associated VAR_015814 phenoCommon Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781] VAR_015815 commonName VAR_015815 VAR_015815 disease phenotype-associated VAR_015815 phenoCommon Growth hormone deficiency isolated type 2 (IGHD2) [MIM:173100] VAR_015817 commonName VAR_015817 VAR_015817 disease phenotype-associated VAR_015817 phenoCommon Epidermolysis bullosa simplex Ogna type (O-EBS) [MIM:131950] VAR_015818 commonName VAR_015818 VAR_015818 disease phenotype-associated VAR_015818 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_015819 commonName VAR_015819 VAR_015819 disease phenotype-associated VAR_015819 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_015820 commonName VAR_015820 VAR_015822 commonName VAR_015822 VAR_015822 disease not phenotype-associated VAR_015823 comment A CNS cancer cell line VAR_015823 commonName VAR_015823 VAR_015824 commonName VAR_015824 VAR_015824 disease not phenotype-associated VAR_015825 comment A CNS cancer cell line VAR_015825 commonName VAR_015825 VAR_015826 comment Ovarian cancer cell lines VAR_015826 commonName VAR_015826 VAR_015827 commonName VAR_015827 VAR_015827 disease not phenotype-associated VAR_015828 comment Colorectal cancer cell line VAR_015828 commonName VAR_015828 VAR_015829 comment A prostate cancer cell line VAR_015829 commonName VAR_015829 VAR_015830 commonName VAR_015830 VAR_015830 disease not phenotype-associated VAR_015831 commonName VAR_015831 VAR_015831 disease not phenotype-associated VAR_015832 commonName VAR_015832 VAR_015832 disease not phenotype-associated VAR_015836 commonName VAR_015836 VAR_015836 disease not phenotype-associated VAR_015837 commonName VAR_015837 VAR_015837 disease not phenotype-associated VAR_015838 commonName VAR_015838 VAR_015838 disease not phenotype-associated VAR_015839 commonName VAR_015839 VAR_015839 disease not phenotype-associated VAR_015840 commonName VAR_015840 VAR_015840 disease not phenotype-associated VAR_015841 commonName VAR_015841 VAR_015841 disease not phenotype-associated VAR_015842 commonName VAR_015842 VAR_015842 disease not phenotype-associated VAR_015843 commonName VAR_015843 VAR_015843 disease not phenotype-associated VAR_015844 commonName VAR_015844 VAR_015844 disease not phenotype-associated VAR_015845 commonName VAR_015845 VAR_015845 disease not phenotype-associated VAR_015846 commonName VAR_015846 VAR_015846 disease not phenotype-associated VAR_015847 commonName VAR_015847 VAR_015847 disease not phenotype-associated VAR_015848 commonName VAR_015848 VAR_015848 disease phenotype-associated VAR_015848 phenoCommon Niemann-Pick disease type C2 (NPDC2) [MIM:607625] VAR_015849 commonName VAR_015849 VAR_015849 disease phenotype-associated VAR_015849 phenoCommon Niemann-Pick disease type C2 (NPDC2) [MIM:607625] VAR_015850 commonName VAR_015850 VAR_015850 disease phenotype-associated VAR_015850 phenoCommon Distal hereditary motor neuronopathy type 7B (HMN7B) [MIM:607641] VAR_015851 commonName VAR_015851 VAR_015851 disease phenotype-associated VAR_015851 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050] VAR_015852 commonName VAR_015852 VAR_015852 disease not phenotype-associated VAR_015853 commonName VAR_015853 VAR_015855 commonName VAR_015855 VAR_015855 disease phenotype-associated VAR_015855 phenoCommon Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150] VAR_015856 commonName VAR_015856 VAR_015856 disease phenotype-associated VAR_015856 phenoCommon Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150] VAR_015857 commonName VAR_015857 VAR_015857 disease phenotype-associated VAR_015857 phenoCommon Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150] VAR_015858 commonName VAR_015858 VAR_015858 disease phenotype-associated VAR_015858 phenoCommon Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150] VAR_015859 commonName VAR_015859 VAR_015859 disease not phenotype-associated VAR_015860 commonName VAR_015860 VAR_015860 disease not phenotype-associated VAR_015861 commonName VAR_015861 VAR_015861 disease not phenotype-associated VAR_015862 comment A lung small cell carcinoma sample VAR_015862 commonName VAR_015862 VAR_015863 comment A lung small cell carcinoma sample VAR_015863 commonName VAR_015863 VAR_015864 comment A lung small cell carcinoma sample VAR_015864 commonName VAR_015864 VAR_015865 comment A lung adenocarcinoma sample VAR_015865 commonName VAR_015865 VAR_015866 comment A lung large cell carcinoma sample VAR_015866 commonName VAR_015866 VAR_015867 comment A lung adenocarcinoma sample VAR_015867 commonName VAR_015867 VAR_015868 comment A lung squamous cell carcinoma sample VAR_015868 commonName VAR_015868 VAR_015869 comment A lung adenocarcinoma sample VAR_015869 commonName VAR_015869 VAR_015870 comment A lung small cell carcinoma sample VAR_015870 commonName VAR_015870 VAR_015871 comment A lung large cell carcinoma sample VAR_015871 commonName VAR_015871 VAR_015872 comment A lung adenocarcinoma sample VAR_015872 commonName VAR_015872 VAR_015873 comment A lung adenocarcinoma sample VAR_015873 commonName VAR_015873 VAR_015874 comment A lung adenocarcinoma sample VAR_015874 commonName VAR_015874 VAR_015880 comment A colon cancer cell line VAR_015880 commonName VAR_015880 VAR_015881 commonName VAR_015881 VAR_015881 disease not phenotype-associated VAR_015882 commonName VAR_015882 VAR_015882 disease not phenotype-associated VAR_015883 commonName VAR_015883 VAR_015884 commonName VAR_015884 VAR_015885 commonName VAR_015885 VAR_015885 disease phenotype-associated VAR_015885 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100] VAR_015886 commonName VAR_015886 VAR_015886 disease not phenotype-associated VAR_015887 commonName VAR_015887 VAR_015887 disease phenotype-associated VAR_015887 phenoCommon Glutamate formiminotransferase deficiency (FIGLU-URIA) [MIM:229100] VAR_015888 commonName VAR_015888 VAR_015888 disease phenotype-associated VAR_015888 phenoCommon Glutamate formiminotransferase deficiency (FIGLU-URIA) [MIM:229100] VAR_015890 commonName VAR_015890 VAR_015890 disease not phenotype-associated VAR_015891 commonName VAR_015891 VAR_015891 disease phenotype-associated VAR_015891 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_015892 commonName VAR_015892 VAR_015892 disease phenotype-associated VAR_015892 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_015893 commonName VAR_015893 VAR_015893 disease phenotype-associated VAR_015893 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_015894 commonName VAR_015894 VAR_015894 disease phenotype-associated VAR_015894 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_015895 commonName VAR_015895 VAR_015895 disease phenotype-associated VAR_015895 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_015896 commonName VAR_015896 VAR_015896 disease phenotype-associated VAR_015896 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_015897 commonName VAR_015897 VAR_015897 disease phenotype-associated VAR_015897 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_015898 commonName VAR_015898 VAR_015898 disease phenotype-associated VAR_015898 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_015899 commonName VAR_015899 VAR_015899 disease phenotype-associated VAR_015899 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_015900 commonName VAR_015900 VAR_015900 disease phenotype-associated VAR_015900 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_015901 commonName VAR_015901 VAR_015901 disease phenotype-associated VAR_015901 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_015902 commonName VAR_015902 VAR_015902 disease phenotype-associated VAR_015902 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_015903 commonName VAR_015903 VAR_015903 disease phenotype-associated VAR_015903 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_015904 commonName VAR_015904 VAR_015904 disease phenotype-associated VAR_015904 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_015905 comment A colon cancer sample VAR_015905 commonName VAR_015905 VAR_015906 comment A colon cancer sample VAR_015906 commonName VAR_015906 VAR_015907 commonName VAR_015907 VAR_015907 disease phenotype-associated VAR_015907 phenoCommon Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] VAR_015908 commonName VAR_015908 VAR_015908 disease phenotype-associated VAR_015908 phenoCommon Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] VAR_015909 commonName VAR_015909 VAR_015909 disease phenotype-associated HbVar.677 ethnic Spanish HbVar.677 phenoCommon Hemoglobin variant VAR_015909 phenoCommon Leprechaunism (LEPRCH) [MIM:246200] VAR_015910 commonName VAR_015910 VAR_015910 disease phenotype-associated VAR_015910 phenoCommon Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] VAR_015911 commonName VAR_015911 VAR_015911 disease phenotype-associated VAR_015911 phenoCommon Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] VAR_015912 commonName VAR_015912 VAR_015912 disease phenotype-associated VAR_015912 phenoCommon Leprechaunism (LEPRCH) [MIM:246200] VAR_015914 commonName VAR_015914 VAR_015914 disease phenotype-associated VAR_015914 phenoCommon Leprechaunism (LEPRCH) [MIM:246200] VAR_015914 phenoCommon Rabson-Mendenhall syndrome (RMS) [MIM:262190] VAR_015915 commonName VAR_015915 VAR_015915 disease not phenotype-associated VAR_015916 commonName VAR_015916 VAR_015916 disease not phenotype-associated VAR_015935 commonName VAR_015935 VAR_015935 disease phenotype-associated VAR_015935 phenoCommon Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210] VAR_015936 commonName VAR_015936 VAR_015936 disease phenotype-associated VAR_015936 phenoCommon Palmoplantar keratoderma with deafness (PPKDFN) [MIM:148350] VAR_015937 commonName VAR_015937 VAR_015937 disease phenotype-associated VAR_015937 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] VAR_015938 commonName VAR_015938 VAR_015938 disease not phenotype-associated VAR_015939 commonName VAR_015939 VAR_015939 disease not phenotype-associated VAR_015940 commonName VAR_015940 VAR_015940 disease phenotype-associated VAR_015940 phenoCommon Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544] VAR_015941 commonName VAR_015941 VAR_015941 disease phenotype-associated VAR_015941 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] VAR_015942 commonName VAR_015942 VAR_015942 disease not phenotype-associated VAR_015943 commonName VAR_015943 VAR_015943 disease phenotype-associated VAR_015943 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] VAR_015944 commonName VAR_015944 VAR_015944 disease phenotype-associated VAR_015944 phenoCommon Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544] VAR_015946 commonName VAR_015946 VAR_015947 commonName VAR_015947 VAR_015947 disease phenotype-associated VAR_015947 phenoCommon Deafness autosomal dominant type 48 (DFNA48) [MIM:607841] VAR_015948 commonName VAR_015948 VAR_015949 commonName VAR_015949 VAR_015949 disease phenotype-associated VAR_015949 phenoCommon Deafness autosomal dominant type 48 (DFNA48) [MIM:607841] VAR_015950 commonName VAR_015950 VAR_015950 disease phenotype-associated VAR_015950 phenoCommon Deafness autosomal dominant type 48 (DFNA48) [MIM:607841] VAR_015952 commonName VAR_015952 VAR_015952 disease phenotype-associated VAR_015952 phenoCommon Brachydactyly type D (BDD) [MIM:113200] VAR_015952 phenoCommon Brachydactyly type E (BDE1) [MIM:113300] VAR_015953 commonName VAR_015953 VAR_015953 disease phenotype-associated VAR_015953 phenoCommon Brachydactyly type E (BDE1) [MIM:113300] VAR_015954 commonName VAR_015954 VAR_015954 disease phenotype-associated VAR_015954 phenoCommon Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] VAR_015955 commonName VAR_015955 VAR_015955 disease phenotype-associated VAR_015955 phenoCommon Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] VAR_015956 commonName VAR_015956 VAR_015956 disease phenotype-associated VAR_015956 phenoCommon Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] VAR_015957 commonName VAR_015957 VAR_015957 disease phenotype-associated VAR_015957 phenoCommon Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] VAR_015960 commonName VAR_015960 VAR_015960 disease phenotype-associated VAR_015960 phenoCommon Isovaleric acidemia (IVA) [MIM:243500] VAR_015961 commonName VAR_015961 VAR_015961 disease phenotype-associated VAR_015961 phenoCommon Isovaleric acidemia (IVA) [MIM:243500] VAR_015962 commonName VAR_015962 VAR_015962 disease phenotype-associated VAR_015962 phenoCommon Isovaleric acidemia (IVA) [MIM:243500] VAR_015963 commonName VAR_015963 VAR_015963 disease phenotype-associated VAR_015963 phenoCommon Isovaleric acidemia (IVA) [MIM:243500] VAR_015964 commonName VAR_015964 VAR_015964 disease phenotype-associated VAR_015964 phenoCommon Isovaleric acidemia (IVA) [MIM:243500] VAR_015965 commonName VAR_015965 VAR_015965 disease phenotype-associated VAR_015965 phenoCommon Isovaleric acidemia (IVA) [MIM:243500] VAR_015966 commonName VAR_015966 VAR_015966 disease phenotype-associated VAR_015966 phenoCommon Isovaleric acidemia (IVA) [MIM:243500] VAR_015967 commonName VAR_015967 VAR_015967 disease not phenotype-associated VAR_015968 commonName VAR_015968 VAR_015968 disease not phenotype-associated VAR_015969 commonName VAR_015969 VAR_015969 disease not phenotype-associated VAR_015970 commonName VAR_015970 VAR_015970 disease not phenotype-associated VAR_015971 commonName VAR_015971 VAR_015971 disease phenotype-associated VAR_015971 phenoCommon Charcot-Marie-Tooth disease dominant intermediate type D (CMTDID) [MIM:607791] VAR_015972 commonName VAR_015972 VAR_015972 disease phenotype-associated VAR_015972 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_015973 commonName VAR_015973 VAR_015973 disease phenotype-associated VAR_015973 phenoCommon Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736] VAR_015974 commonName VAR_015974 VAR_015974 disease phenotype-associated VAR_015974 phenoCommon Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677] VAR_015975 commonName VAR_015975 VAR_015975 disease phenotype-associated VAR_015975 phenoCommon Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677] VAR_015976 commonName VAR_015976 VAR_015976 disease phenotype-associated VAR_015976 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_015977 commonName VAR_015977 VAR_015977 disease phenotype-associated VAR_015977 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_015977 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_015978 commonName VAR_015978 VAR_015978 disease phenotype-associated VAR_015978 phenoCommon Roussy-Levy syndrome (ROULS) [MIM:180800] VAR_015979 commonName VAR_015979 VAR_015979 disease phenotype-associated VAR_015979 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_015980 commonName VAR_015980 VAR_015980 disease phenotype-associated VAR_015980 phenoCommon Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677] VAR_015981 commonName VAR_015981 VAR_015981 disease phenotype-associated VAR_015981 phenoCommon Acrocapitofemoral dysplasia (ACFD) [MIM:607778] VAR_015982 commonName VAR_015982 VAR_015982 disease phenotype-associated VAR_015982 phenoCommon Brachydactyly type A1 (BDA1) [MIM:112500] VAR_015983 commonName VAR_015983 VAR_015983 disease phenotype-associated VAR_015983 phenoCommon Brachydactyly type A1 (BDA1) [MIM:112500] VAR_015984 commonName VAR_015984 VAR_015984 disease phenotype-associated VAR_015984 phenoCommon Brachydactyly type A1 (BDA1) [MIM:112500] VAR_015985 commonName VAR_015985 VAR_015985 disease phenotype-associated VAR_015985 phenoCommon Brachydactyly type A1 (BDA1) [MIM:112500] VAR_015986 commonName VAR_015986 VAR_015986 disease phenotype-associated VAR_015986 phenoCommon Acrocapitofemoral dysplasia (ACFD) [MIM:607778] VAR_015987 commonName VAR_015987 VAR_015987 disease phenotype-associated VAR_015987 phenoCommon 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438] VAR_015988 commonName VAR_015988 VAR_015988 disease phenotype-associated VAR_015988 phenoCommon 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438] VAR_015989 commonName VAR_015989 VAR_015989 disease not phenotype-associated VAR_016004 commonName VAR_016004 VAR_016004 disease phenotype-associated VAR_016004 phenoCommon Familial hypercholanemia (FHCA) [MIM:607748] VAR_016005 commonName VAR_016005 VAR_016005 disease not phenotype-associated VAR_016006 commonName VAR_016006 HbVar.678 protEffect HBD 126(H3) Gln>Glu VAR_016006 disease not phenotype-associated VAR_016007 commonName VAR_016007 VAR_016007 disease phenotype-associated VAR_016007 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_016008 commonName VAR_016008 VAR_016008 disease phenotype-associated VAR_016008 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_016009 commonName VAR_016009 VAR_016009 disease phenotype-associated VAR_016009 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_016010 commonName VAR_016010 VAR_016010 disease phenotype-associated VAR_016010 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_016011 commonName VAR_016011 VAR_016011 disease phenotype-associated VAR_016011 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_016012 commonName VAR_016012 VAR_016012 disease phenotype-associated VAR_016012 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_016013 commonName VAR_016013 VAR_016013 disease phenotype-associated VAR_016013 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_016014 commonName VAR_016014 VAR_016014 disease phenotype-associated VAR_016014 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_016015 commonName VAR_016015 VAR_016015 disease phenotype-associated VAR_016015 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_016016 commonName VAR_016016 VAR_016016 disease phenotype-associated VAR_016016 phenoCommon Emery-Dreifuss muscular dystrophy type 1 (EDMD1) [MIM:310300] VAR_016017 commonName VAR_016017 VAR_016017 disease not phenotype-associated VAR_016018 commonName VAR_016018 VAR_016018 disease phenotype-associated VAR_016018 phenoCommon Charcot-Marie-Tooth disease type 1F (CMT1F) [MIM:607734] VAR_016019 commonName VAR_016019 VAR_016019 disease phenotype-associated VAR_016019 phenoCommon Charcot-Marie-Tooth disease type 1F (CMT1F) [MIM:607734] VAR_016020 commonName VAR_016020 VAR_016020 disease phenotype-associated VAR_016020 phenoCommon Charcot-Marie-Tooth disease type 1F (CMT1F) [MIM:607734] VAR_016020 phenoCommon Charcot-Marie-Tooth disease type 2E (CMT2E) [MIM:607684] VAR_016021 commonName VAR_016021 VAR_016021 disease phenotype-associated VAR_016021 phenoCommon Charcot-Marie-Tooth disease type 2E (CMT2E) [MIM:607684] VAR_016022 commonName VAR_016022 VAR_016022 disease phenotype-associated VAR_016022 phenoCommon Charcot-Marie-Tooth disease type 1F (CMT1F) [MIM:607734] VAR_016023 commonName VAR_016023 VAR_016023 disease phenotype-associated VAR_016023 phenoCommon Charcot-Marie-Tooth disease type 1F (CMT1F) [MIM:607734] VAR_016024 commonName VAR_016024 VAR_016024 disease not phenotype-associated VAR_016026 comment Pancreatic carcinoma VAR_016026 commonName VAR_016026 VAR_016026 disease phenotype-associated VAR_016026 phenoCommon Gastric cancer (GASC) [MIM:613659] VAR_016027 comment Lung cancer VAR_016027 commonName VAR_016027 VAR_016028 comment Lung carcinoma VAR_016028 commonName VAR_016028 VAR_016028 disease phenotype-associated VAR_016028 phenoCommon Gastric cancer (GASC) [MIM:613659] VAR_016029 comment A breast carcinoma cell line VAR_016029 commonName VAR_016029 VAR_016029 disease phenotype-associated VAR_016029 phenoCommon Gastric cancer (GASC) [MIM:613659] VAR_016030 comment Bladder cancer VAR_016030 commonName VAR_016030 VAR_016030 disease phenotype-associated VAR_016030 phenoCommon Gastric cancer (GASC) [MIM:613659] VAR_016031 commonName VAR_016031 VAR_016031 disease not phenotype-associated VAR_016032 commonName VAR_016032 VAR_016032 disease phenotype-associated VAR_016032 phenoCommon Bloom syndrome (BLM) [MIM:210900] VAR_016033 commonName VAR_016033 VAR_016033 disease phenotype-associated VAR_016033 phenoCommon Bloom syndrome (BLM) [MIM:210900] VAR_016034 commonName VAR_016034 VAR_016034 disease phenotype-associated VAR_016034 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_016035 commonName VAR_016035 VAR_016035 disease phenotype-associated VAR_016035 phenoCommon White sponge nevus of cannon (WSN) [MIM:193900] VAR_016036 commonName VAR_016036 VAR_016036 disease phenotype-associated VAR_016036 phenoCommon White sponge nevus of cannon (WSN) [MIM:193900] VAR_016037 commonName VAR_016037 VAR_016037 disease phenotype-associated VAR_016037 phenoCommon White sponge nevus of cannon (WSN) [MIM:193900] VAR_016039 commonName VAR_016039 VAR_016039 disease not phenotype-associated VAR_016040 commonName VAR_016040 VAR_016040 disease not phenotype-associated VAR_016041 commonName VAR_016041 VAR_016041 disease not phenotype-associated VAR_016042 commonName VAR_016042 VAR_016042 disease not phenotype-associated VAR_016043 commonName VAR_016043 VAR_016043 disease not phenotype-associated VAR_016044 commonName VAR_016044 VAR_016044 disease phenotype-associated VAR_016044 phenoCommon Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661] VAR_016045 commonName VAR_016045 VAR_016045 disease phenotype-associated VAR_016045 phenoCommon Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661] VAR_016046 commonName VAR_016046 VAR_016046 disease phenotype-associated VAR_016046 phenoCommon Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661] VAR_016047 commonName VAR_016047 VAR_016047 disease phenotype-associated VAR_016047 phenoCommon Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661] VAR_016048 commonName VAR_016048 VAR_016048 disease phenotype-associated VAR_016048 phenoCommon Norrie disease (ND) [MIM:310600] VAR_016049 commonName VAR_016049 VAR_016049 disease phenotype-associated VAR_016049 phenoCommon Norrie disease (ND) [MIM:310600] VAR_016050 commonName VAR_016050 VAR_016050 disease phenotype-associated VAR_016050 phenoCommon Norrie disease (ND) [MIM:310600] VAR_016051 commonName VAR_016051 VAR_016051 disease phenotype-associated VAR_016051 phenoCommon Norrie disease (ND) [MIM:310600] VAR_016052 commonName VAR_016052 VAR_016052 disease not phenotype-associated VAR_016053 commonName VAR_016053 VAR_016053 disease phenotype-associated VAR_016053 phenoCommon Multiple sulfatase deficiency (MSD) [MIM:272200] VAR_016054 commonName VAR_016054 VAR_016054 disease phenotype-associated VAR_016054 phenoCommon Multiple sulfatase deficiency (MSD) [MIM:272200] VAR_016055 commonName VAR_016055 VAR_016055 disease phenotype-associated VAR_016055 phenoCommon Multiple sulfatase deficiency (MSD) [MIM:272200] VAR_016056 commonName VAR_016056 VAR_016056 disease phenotype-associated VAR_016056 phenoCommon Multiple sulfatase deficiency (MSD) [MIM:272200] VAR_016057 commonName VAR_016057 VAR_016057 disease phenotype-associated VAR_016057 phenoCommon Multiple sulfatase deficiency (MSD) [MIM:272200] VAR_016058 commonName VAR_016058 VAR_016058 disease phenotype-associated VAR_016058 phenoCommon Multiple sulfatase deficiency (MSD) [MIM:272200] VAR_016059 commonName VAR_016059 VAR_016059 disease phenotype-associated VAR_016059 phenoCommon Multiple sulfatase deficiency (MSD) [MIM:272200] VAR_016060 commonName VAR_016060 VAR_016060 disease phenotype-associated VAR_016060 phenoCommon Multiple sulfatase deficiency (MSD) [MIM:272200] VAR_016061 commonName VAR_016061 VAR_016061 disease not phenotype-associated VAR_016062 commonName VAR_016062 VAR_016062 disease phenotype-associated VAR_016062 phenoCommon Chondrodysplasia Blomstrand type (BOCD) [MIM:215045] VAR_016063 commonName VAR_016063 VAR_016063 disease phenotype-associated VAR_016063 phenoCommon Enchondromatosis multiple (ENCHOM) [MIM:166000] VAR_016064 commonName VAR_016064 VAR_016064 disease phenotype-associated VAR_016064 phenoCommon Jansen metaphyseal chondrodysplasia (JMC) [MIM:156400] VAR_016065 commonName VAR_016065 VAR_016065 disease phenotype-associated VAR_016065 phenoCommon Friedreich ataxia (FRDA) [MIM:229300] VAR_016066 commonName VAR_016066 VAR_016066 disease phenotype-associated VAR_016066 phenoCommon Friedreich ataxia (FRDA) [MIM:229300] VAR_016067 commonName VAR_016067 VAR_016067 disease phenotype-associated VAR_016067 phenoCommon Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] VAR_016068 commonName VAR_016068 VAR_016068 disease phenotype-associated VAR_016068 phenoCommon Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] VAR_016069 commonName VAR_016069 VAR_016069 disease phenotype-associated VAR_016069 phenoCommon Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] VAR_016070 commonName VAR_016070 VAR_016070 disease phenotype-associated VAR_016070 phenoCommon Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] VAR_016071 commonName VAR_016071 VAR_016071 disease phenotype-associated VAR_016071 phenoCommon Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] VAR_016072 commonName VAR_016072 VAR_016072 disease phenotype-associated VAR_016072 phenoCommon Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] VAR_016073 commonName VAR_016073 VAR_016073 disease phenotype-associated VAR_016073 phenoCommon Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] VAR_016074 commonName VAR_016074 VAR_016074 disease phenotype-associated VAR_016074 phenoCommon Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] VAR_016075 commonName VAR_016075 VAR_016075 disease phenotype-associated VAR_016075 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 2 (CPVT2) [MIM:611938] VAR_016077 commonName VAR_016077 VAR_016077 disease not phenotype-associated VAR_016078 commonName VAR_016078 VAR_016078 disease phenotype-associated VAR_016078 phenoCommon Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690] VAR_016079 commonName VAR_016079 VAR_016079 disease phenotype-associated VAR_016079 phenoCommon Familial restrictive cardiomyopathy type 1 (RCM1) [MIM:115210] VAR_016080 commonName VAR_016080 VAR_016080 disease phenotype-associated VAR_016080 phenoCommon Familial restrictive cardiomyopathy type 1 (RCM1) [MIM:115210] VAR_016081 commonName VAR_016081 VAR_016081 disease phenotype-associated VAR_016081 phenoCommon Familial restrictive cardiomyopathy type 1 (RCM1) [MIM:115210] VAR_016082 commonName VAR_016082 VAR_016082 disease phenotype-associated VAR_016082 phenoCommon Familial restrictive cardiomyopathy type 1 (RCM1) [MIM:115210] VAR_016083 commonName VAR_016083 VAR_016083 disease phenotype-associated VAR_016083 phenoCommon Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690] VAR_016083 phenoCommon Familial restrictive cardiomyopathy type 1 (RCM1) [MIM:115210] VAR_016084 commonName VAR_016084 VAR_016084 disease phenotype-associated VAR_016084 phenoCommon Familial restrictive cardiomyopathy type 1 (RCM1) [MIM:115210] VAR_016085 commonName VAR_016085 VAR_016085 disease phenotype-associated VAR_016085 phenoCommon Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690] VAR_016086 commonName VAR_016086 VAR_016086 disease phenotype-associated VAR_016086 phenoCommon Distal arthrogryposis type 1A (DA1A) [MIM:108120] VAR_016087 commonName VAR_016087 VAR_016087 disease phenotype-associated VAR_016087 phenoCommon Distal arthrogryposis type 2B (DA2B) [MIM:601680] VAR_016088 commonName VAR_016088 VAR_016088 disease not phenotype-associated VAR_016092 commonName VAR_016092 VAR_016092 disease not phenotype-associated VAR_016093 commonName VAR_016093 VAR_016093 disease not phenotype-associated VAR_016094 commonName VAR_016094 VAR_016094 disease not phenotype-associated VAR_016095 commonName VAR_016095 VAR_016095 disease not phenotype-associated VAR_016097 commonName VAR_016097 VAR_016097 disease not phenotype-associated VAR_016098 commonName VAR_016098 VAR_016098 disease not phenotype-associated VAR_016099 commonName VAR_016099 VAR_016099 disease not phenotype-associated HbVar.678 commonName Hb A2-Zagreb VAR_016100 commonName VAR_016100 VAR_016100 disease not phenotype-associated VAR_016101 commonName VAR_016101 VAR_016101 disease not phenotype-associated VAR_016102 commonName VAR_016102 VAR_016102 disease not phenotype-associated VAR_016104 commonName VAR_016104 VAR_016104 disease not phenotype-associated VAR_016105 commonName VAR_016105 VAR_016105 disease not phenotype-associated VAR_016106 commonName VAR_016106 VAR_016106 disease not phenotype-associated VAR_016107 commonName VAR_016107 VAR_016107 disease not phenotype-associated VAR_016108 commonName VAR_016108 VAR_016108 disease not phenotype-associated VAR_016109 commonName VAR_016109 VAR_016109 disease not phenotype-associated VAR_016110 commonName VAR_016110 VAR_016110 disease not phenotype-associated VAR_016111 commonName VAR_016111 VAR_016111 disease not phenotype-associated VAR_016112 commonName VAR_016112 VAR_016112 disease not phenotype-associated VAR_016116 commonName VAR_016116 VAR_016116 disease not phenotype-associated VAR_016117 commonName VAR_016117 VAR_016117 disease not phenotype-associated VAR_016118 commonName VAR_016118 VAR_016118 disease not phenotype-associated VAR_016119 commonName VAR_016119 VAR_016119 disease not phenotype-associated VAR_016120 commonName VAR_016120 VAR_016120 disease not phenotype-associated VAR_016121 commonName VAR_016121 VAR_016121 disease not phenotype-associated VAR_016122 commonName VAR_016122 VAR_016122 disease not phenotype-associated VAR_016123 commonName VAR_016123 VAR_016123 disease not phenotype-associated VAR_016124 commonName VAR_016124 VAR_016124 disease not phenotype-associated VAR_016125 commonName VAR_016125 VAR_016125 disease not phenotype-associated VAR_016126 commonName VAR_016126 VAR_016126 disease not phenotype-associated VAR_016127 commonName VAR_016127 VAR_016127 disease not phenotype-associated VAR_016128 commonName VAR_016128 VAR_016128 disease not phenotype-associated VAR_016129 commonName VAR_016129 VAR_016129 disease not phenotype-associated VAR_016130 commonName VAR_016130 VAR_016130 disease not phenotype-associated VAR_016131 commonName VAR_016131 VAR_016131 disease not phenotype-associated VAR_016132 commonName VAR_016132 VAR_016132 disease not phenotype-associated VAR_016133 commonName VAR_016133 VAR_016133 disease not phenotype-associated VAR_016134 commonName VAR_016134 VAR_016134 disease not phenotype-associated VAR_016136 commonName VAR_016136 VAR_016136 disease not phenotype-associated VAR_016137 commonName VAR_016137 VAR_016137 disease not phenotype-associated VAR_016138 commonName VAR_016138 VAR_016138 disease not phenotype-associated VAR_016139 commonName VAR_016139 VAR_016139 disease not phenotype-associated VAR_016140 commonName VAR_016140 VAR_016140 disease not phenotype-associated VAR_016141 commonName VAR_016141 VAR_016141 disease not phenotype-associated VAR_016142 commonName VAR_016142 VAR_016142 disease not phenotype-associated VAR_016143 commonName VAR_016143 VAR_016143 disease not phenotype-associated VAR_016144 commonName VAR_016144 VAR_016144 disease not phenotype-associated VAR_016145 commonName VAR_016145 VAR_016145 disease not phenotype-associated VAR_016146 commonName VAR_016146 VAR_016146 disease not phenotype-associated VAR_016148 commonName VAR_016148 VAR_016148 disease not phenotype-associated VAR_016149 commonName VAR_016149 VAR_016149 disease not phenotype-associated VAR_016150 commonName VAR_016150 VAR_016150 disease not phenotype-associated VAR_016151 commonName VAR_016151 VAR_016151 disease not phenotype-associated VAR_016152 commonName VAR_016152 VAR_016152 disease not phenotype-associated VAR_016153 commonName VAR_016153 VAR_016153 disease not phenotype-associated VAR_016154 commonName VAR_016154 VAR_016154 disease not phenotype-associated VAR_016155 commonName VAR_016155 VAR_016155 disease not phenotype-associated VAR_016157 commonName VAR_016157 VAR_016157 disease not phenotype-associated VAR_016158 commonName VAR_016158 VAR_016158 disease not phenotype-associated VAR_016159 commonName VAR_016159 VAR_016159 disease not phenotype-associated VAR_016160 commonName VAR_016160 VAR_016160 disease not phenotype-associated VAR_016161 commonName VAR_016161 VAR_016161 disease not phenotype-associated VAR_016162 commonName VAR_016162 VAR_016162 disease not phenotype-associated VAR_016163 commonName VAR_016163 VAR_016163 disease not phenotype-associated VAR_016164 commonName VAR_016164 VAR_016164 disease not phenotype-associated VAR_016165 commonName VAR_016165 VAR_016165 disease not phenotype-associated VAR_016166 commonName VAR_016166 VAR_016166 disease not phenotype-associated VAR_016167 commonName VAR_016167 VAR_016167 disease not phenotype-associated VAR_016170 commonName VAR_016170 VAR_016170 disease not phenotype-associated VAR_016171 commonName VAR_016171 VAR_016171 disease not phenotype-associated VAR_016172 commonName VAR_016172 VAR_016172 disease not phenotype-associated VAR_016173 commonName VAR_016173 VAR_016173 disease not phenotype-associated VAR_016174 commonName VAR_016174 VAR_016174 disease not phenotype-associated VAR_016177 commonName VAR_016177 VAR_016177 disease not phenotype-associated VAR_016178 commonName VAR_016178 VAR_016178 disease not phenotype-associated VAR_016179 commonName VAR_016179 VAR_016179 disease not phenotype-associated VAR_016180 commonName VAR_016180 VAR_016180 disease not phenotype-associated VAR_016181 commonName VAR_016181 VAR_016181 disease not phenotype-associated VAR_016182 commonName VAR_016182 VAR_016182 disease not phenotype-associated VAR_016183 commonName VAR_016183 VAR_016183 disease not phenotype-associated VAR_016189 commonName VAR_016189 VAR_016189 disease not phenotype-associated VAR_016190 commonName VAR_016190 VAR_016190 disease not phenotype-associated VAR_016191 commonName VAR_016191 VAR_016191 disease not phenotype-associated VAR_016192 commonName VAR_016192 VAR_016192 disease not phenotype-associated VAR_016193 commonName VAR_016193 VAR_016193 disease not phenotype-associated VAR_016194 commonName VAR_016194 VAR_016194 disease not phenotype-associated VAR_016200 commonName VAR_016200 VAR_016200 disease not phenotype-associated VAR_016201 commonName VAR_016201 VAR_016201 disease not phenotype-associated VAR_016202 commonName VAR_016202 VAR_016202 disease not phenotype-associated VAR_016203 commonName VAR_016203 VAR_016203 disease phenotype-associated VAR_016203 phenoCommon Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] VAR_016205 commonName VAR_016205 VAR_016205 disease phenotype-associated VAR_016205 phenoCommon Limb-girdle muscular dystrophy type 1B (LGMD1B) [MIM:159001] VAR_016206 commonName VAR_016206 VAR_016206 disease not phenotype-associated VAR_016207 commonName VAR_016207 VAR_016207 disease phenotype-associated VAR_016207 phenoCommon Rippling muscle disease (RMD) [MIM:606072] VAR_016208 commonName VAR_016208 VAR_016208 disease phenotype-associated VAR_016208 phenoCommon Rippling muscle disease (RMD) [MIM:606072] VAR_016210 commonName VAR_016210 VAR_016210 disease phenotype-associated VAR_016210 phenoCommon Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823] VAR_016211 commonName VAR_016211 VAR_016211 disease phenotype-associated VAR_016211 phenoCommon Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823] VAR_016212 commonName VAR_016212 VAR_016212 disease phenotype-associated VAR_016212 phenoCommon Neutropenia severe congenital autosomal dominant type 2 (SCN2) [MIM:613107] VAR_016213 commonName VAR_016213 VAR_016213 disease phenotype-associated VAR_016213 phenoCommon Dominant nonimmune chronic idiopathic neutropenia of adults (NI-CINA) [MIM:607847] VAR_016214 commonName VAR_016214 VAR_016214 disease phenotype-associated VAR_016214 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_016215 commonName VAR_016215 VAR_016215 disease phenotype-associated VAR_016215 phenoCommon Frontotemporal dementia (FTD) [MIM:600274] VAR_016216 commonName VAR_016216 VAR_016216 disease phenotype-associated VAR_016216 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_016217 commonName VAR_016217 VAR_016217 disease phenotype-associated VAR_016217 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_016218 commonName VAR_016218 VAR_016218 disease phenotype-associated VAR_016218 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_016219 commonName VAR_016219 VAR_016219 disease phenotype-associated VAR_016219 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_016220 commonName VAR_016220 VAR_016220 disease phenotype-associated VAR_016220 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_016221 commonName VAR_016221 VAR_016221 disease not phenotype-associated VAR_016222 commonName VAR_016222 VAR_016222 disease phenotype-associated VAR_016222 phenoCommon Alopecia universalis congenita (ALUNC) [MIM:203655] VAR_016223 commonName VAR_016223 VAR_016223 disease phenotype-associated VAR_016223 phenoCommon Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489] VAR_016224 commonName VAR_016224 VAR_016224 disease not phenotype-associated VAR_016225 commonName VAR_016225 VAR_016225 disease phenotype-associated VAR_016225 phenoCommon Progressive pseudorheumatoid arthropathy of childhood (PPAC) [MIM:208230] VAR_016227 commonName VAR_016227 VAR_016227 disease not phenotype-associated VAR_016228 commonName VAR_016228 VAR_016228 disease not phenotype-associated VAR_016229 commonName VAR_016229 VAR_016229 disease not phenotype-associated VAR_016230 commonName VAR_016230 VAR_016230 disease not phenotype-associated VAR_016232 commonName VAR_016232 VAR_016232 disease not phenotype-associated VAR_016233 commonName VAR_016233 VAR_016233 disease not phenotype-associated VAR_016234 commonName VAR_016234 VAR_016234 disease not phenotype-associated VAR_016235 commonName VAR_016235 VAR_016235 disease phenotype-associated VAR_016235 phenoCommon Fucosidosis (FUCA1D) [MIM:230000] VAR_016236 commonName VAR_016236 VAR_016236 disease not phenotype-associated VAR_016237 commonName VAR_016237 VAR_016237 disease not phenotype-associated VAR_016238 commonName VAR_016238 VAR_016238 disease not phenotype-associated VAR_016240 commonName VAR_016240 VAR_016240 disease not phenotype-associated VAR_016241 commonName VAR_016241 VAR_016241 disease not phenotype-associated VAR_016244 commonName VAR_016244 VAR_016244 disease not phenotype-associated VAR_016245 commonName VAR_016245 VAR_016245 disease not phenotype-associated VAR_016246 commonName VAR_016246 VAR_016246 disease not phenotype-associated VAR_016247 commonName VAR_016247 VAR_016247 disease not phenotype-associated VAR_016248 commonName VAR_016248 VAR_016248 disease not phenotype-associated VAR_016249 commonName VAR_016249 VAR_016249 disease not phenotype-associated VAR_016250 commonName VAR_016250 VAR_016250 disease not phenotype-associated VAR_016251 commonName VAR_016251 VAR_016251 disease not phenotype-associated VAR_016253 commonName VAR_016253 VAR_016253 disease not phenotype-associated VAR_016254 commonName VAR_016254 VAR_016254 disease not phenotype-associated VAR_016255 commonName VAR_016255 VAR_016255 disease not phenotype-associated VAR_016257 commonName VAR_016257 VAR_016257 disease not phenotype-associated VAR_016258 commonName VAR_016258 VAR_016258 disease not phenotype-associated VAR_016261 commonName VAR_016261 VAR_016261 disease not phenotype-associated VAR_016262 commonName VAR_016262 VAR_016262 disease not phenotype-associated VAR_016263 commonName VAR_016263 VAR_016263 disease not phenotype-associated VAR_016265 commonName VAR_016265 VAR_016265 disease not phenotype-associated VAR_016266 commonName VAR_016266 VAR_016266 disease not phenotype-associated VAR_016267 commonName VAR_016267 VAR_016267 disease not phenotype-associated VAR_016268 commonName VAR_016268 VAR_016268 disease not phenotype-associated VAR_016269 commonName VAR_016269 VAR_016269 disease not phenotype-associated VAR_016270 commonName VAR_016270 VAR_016270 disease not phenotype-associated VAR_016271 commonName VAR_016271 VAR_016271 disease not phenotype-associated VAR_016272 commonName VAR_016272 VAR_016272 disease not phenotype-associated VAR_016273 commonName VAR_016273 VAR_016273 disease not phenotype-associated VAR_016279 commonName VAR_016279 VAR_016279 disease not phenotype-associated VAR_016280 commonName VAR_016280 VAR_016280 disease not phenotype-associated VAR_016281 commonName VAR_016281 VAR_016281 disease not phenotype-associated VAR_016282 commonName VAR_016282 VAR_016282 disease not phenotype-associated VAR_016283 commonName VAR_016283 VAR_016283 disease not phenotype-associated VAR_016284 commonName VAR_016284 VAR_016284 disease not phenotype-associated VAR_016287 commonName VAR_016287 VAR_016287 disease not phenotype-associated VAR_016288 commonName VAR_016288 VAR_016288 disease not phenotype-associated VAR_016289 commonName VAR_016289 VAR_016289 disease not phenotype-associated VAR_016290 commonName VAR_016290 VAR_016290 disease not phenotype-associated VAR_016291 commonName VAR_016291 VAR_016291 disease not phenotype-associated VAR_016292 commonName VAR_016292 VAR_016292 disease not phenotype-associated VAR_016293 commonName VAR_016293 VAR_016293 disease not phenotype-associated VAR_016294 commonName VAR_016294 VAR_016294 disease not phenotype-associated VAR_016295 commonName VAR_016295 VAR_016295 disease not phenotype-associated VAR_016296 commonName VAR_016296 VAR_016296 disease not phenotype-associated VAR_016297 commonName VAR_016297 VAR_016297 disease not phenotype-associated VAR_016298 commonName VAR_016298 VAR_016298 disease not phenotype-associated VAR_016299 commonName VAR_016299 VAR_016299 disease not phenotype-associated VAR_016300 commonName VAR_016300 VAR_016300 disease not phenotype-associated VAR_016301 commonName VAR_016301 VAR_016301 disease not phenotype-associated VAR_016302 commonName VAR_016302 VAR_016302 disease not phenotype-associated VAR_016312 commonName VAR_016312 VAR_016312 disease not phenotype-associated VAR_016313 commonName VAR_016313 VAR_016313 disease not phenotype-associated VAR_016314 commonName VAR_016314 VAR_016314 disease not phenotype-associated VAR_016315 commonName VAR_016315 VAR_016315 disease not phenotype-associated VAR_016316 commonName VAR_016316 VAR_016316 disease not phenotype-associated VAR_016317 commonName VAR_016317 VAR_016317 disease not phenotype-associated VAR_016319 commonName VAR_016319 VAR_016319 disease not phenotype-associated VAR_016320 commonName VAR_016320 VAR_016320 disease not phenotype-associated VAR_016321 commonName VAR_016321 VAR_016321 disease not phenotype-associated VAR_016322 commonName VAR_016322 VAR_016322 disease not phenotype-associated VAR_016323 commonName VAR_016323 VAR_016323 disease not phenotype-associated VAR_016324 commonName VAR_016324 VAR_016324 disease not phenotype-associated VAR_016325 commonName VAR_016325 VAR_016325 disease not phenotype-associated VAR_016326 commonName VAR_016326 VAR_016326 disease not phenotype-associated VAR_016327 commonName VAR_016327 VAR_016327 disease not phenotype-associated VAR_016328 commonName VAR_016328 VAR_016328 disease not phenotype-associated VAR_016329 commonName VAR_016329 VAR_016329 disease not phenotype-associated VAR_016333 commonName VAR_016333 VAR_016333 disease not phenotype-associated VAR_016334 commonName VAR_016334 VAR_016334 disease not phenotype-associated VAR_016335 commonName VAR_016335 VAR_016335 disease not phenotype-associated VAR_016337 commonName VAR_016337 VAR_016337 disease not phenotype-associated VAR_016338 commonName VAR_016338 VAR_016338 disease not phenotype-associated VAR_016339 commonName VAR_016339 VAR_016339 disease not phenotype-associated VAR_016340 commonName VAR_016340 VAR_016340 disease not phenotype-associated VAR_016601 commonName VAR_016601 VAR_016601 disease phenotype-associated VAR_016601 phenoCommon Neonatal intrahepatic cholestasis due to citrin deficiency (NICCD) [MIM:605814] VAR_016602 commonName VAR_016602 VAR_016602 disease not phenotype-associated VAR_016603 commonName VAR_016603 VAR_016603 disease not phenotype-associated VAR_016697 commonName VAR_016697 VAR_016697 disease not phenotype-associated VAR_016756 commonName VAR_016756 VAR_016756 disease not phenotype-associated VAR_016757 commonName VAR_016757 VAR_016757 disease not phenotype-associated VAR_016758 commonName VAR_016758 VAR_016758 disease not phenotype-associated VAR_016759 commonName VAR_016759 VAR_016759 disease not phenotype-associated VAR_016760 commonName VAR_016760 VAR_016760 disease phenotype-associated VAR_016760 phenoCommon Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762] VAR_016761 commonName VAR_016761 VAR_016761 disease phenotype-associated VAR_016761 phenoCommon Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762] VAR_016762 commonName VAR_016762 VAR_016762 disease phenotype-associated VAR_016762 phenoCommon Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762] VAR_016763 commonName VAR_016763 VAR_016763 disease phenotype-associated VAR_016763 phenoCommon Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762] VAR_016764 commonName VAR_016764 VAR_016764 disease phenotype-associated VAR_016764 phenoCommon Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762] VAR_016765 commonName VAR_016765 VAR_016765 disease phenotype-associated VAR_016765 phenoCommon Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762] VAR_016766 commonName VAR_016766 VAR_016766 disease not phenotype-associated VAR_016767 commonName VAR_016767 VAR_016767 disease not phenotype-associated VAR_016768 commonName VAR_016768 VAR_016768 disease not phenotype-associated VAR_016769 commonName VAR_016769 VAR_016769 disease not phenotype-associated VAR_016771 commonName VAR_016771 VAR_016771 disease not phenotype-associated VAR_016772 commonName VAR_016772 VAR_016772 disease not phenotype-associated VAR_016774 commonName VAR_016774 VAR_016774 disease not phenotype-associated VAR_016775 commonName VAR_016775 VAR_016775 disease phenotype-associated VAR_016775 phenoCommon Kartagener syndrome (KTGS) [MIM:244400] VAR_016776 commonName VAR_016776 VAR_016776 disease not phenotype-associated VAR_016777 commonName VAR_016777 VAR_016777 disease phenotype-associated VAR_016777 phenoCommon Mitochondrial DNA depletion syndrome type 1 (MTDPS1) [MIM:603041] VAR_016778 commonName VAR_016778 VAR_016778 disease phenotype-associated VAR_016778 phenoCommon Canavan disease (CAND) [MIM:271900] VAR_016779 commonName VAR_016779 VAR_016779 disease phenotype-associated VAR_016779 phenoCommon Canavan disease (CAND) [MIM:271900] VAR_016780 commonName VAR_016780 VAR_016780 disease phenotype-associated VAR_016780 phenoCommon Canavan disease (CAND) [MIM:271900] VAR_016781 commonName VAR_016781 VAR_016781 disease phenotype-associated VAR_016781 phenoCommon Canavan disease (CAND) [MIM:271900] VAR_016782 commonName VAR_016782 VAR_016782 disease phenotype-associated VAR_016782 phenoCommon Canavan disease (CAND) [MIM:271900] VAR_016783 commonName VAR_016783 VAR_016783 disease phenotype-associated VAR_016783 phenoCommon Canavan disease (CAND) [MIM:271900] VAR_016784 commonName VAR_016784 VAR_016784 disease phenotype-associated VAR_016784 phenoCommon Canavan disease (CAND) [MIM:271900] VAR_016785 commonName VAR_016785 VAR_016785 disease phenotype-associated VAR_016785 phenoCommon Canavan disease (CAND) [MIM:271900] VAR_016786 commonName VAR_016786 VAR_016786 disease phenotype-associated VAR_016786 phenoCommon Canavan disease (CAND) [MIM:271900] VAR_016787 commonName VAR_016787 VAR_016787 disease phenotype-associated VAR_016787 phenoCommon Canavan disease (CAND) [MIM:271900] VAR_016788 commonName VAR_016788 VAR_016788 disease phenotype-associated VAR_016788 phenoCommon Canavan disease (CAND) [MIM:271900] VAR_016789 commonName VAR_016789 VAR_016789 disease not phenotype-associated VAR_016790 commonName VAR_016790 VAR_016790 disease phenotype-associated VAR_016790 phenoCommon Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] VAR_016791 commonName VAR_016791 VAR_016791 disease phenotype-associated VAR_016791 phenoCommon Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] VAR_016792 commonName VAR_016792 VAR_016792 disease phenotype-associated VAR_016792 phenoCommon Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] VAR_016793 commonName VAR_016793 VAR_016793 disease phenotype-associated VAR_016793 phenoCommon Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] VAR_016794 commonName VAR_016794 VAR_016794 disease phenotype-associated VAR_016794 phenoCommon Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] VAR_016795 commonName VAR_016795 VAR_016795 disease phenotype-associated VAR_016795 phenoCommon Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] VAR_016796 commonName VAR_016796 VAR_016796 disease phenotype-associated VAR_016796 phenoCommon Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] VAR_016804 commonName VAR_016804 VAR_016804 disease phenotype-associated VAR_016804 phenoCommon Cone-rod dystrophy type 7 (CORD7) [MIM:603649] VAR_016805 commonName VAR_016805 VAR_016806 commonName VAR_016806 VAR_016806 disease phenotype-associated VAR_016806 phenoCommon Chylomicron retention disease (CMRD) [MIM:246700] VAR_016807 commonName VAR_016807 VAR_016807 disease phenotype-associated VAR_016807 phenoCommon Chylomicron retention disease (CMRD) [MIM:246700] VAR_016808 commonName VAR_016808 VAR_016808 disease phenotype-associated VAR_016808 phenoCommon Chylomicron retention disease (CMRD) [MIM:246700] VAR_016809 commonName VAR_016809 VAR_016809 disease not phenotype-associated VAR_016810 commonName VAR_016810 VAR_016810 disease phenotype-associated VAR_016810 phenoCommon Refsum disease (RD) [MIM:266500] VAR_016811 commonName VAR_016811 VAR_016811 disease not phenotype-associated VAR_016812 commonName VAR_016812 VAR_016812 disease not phenotype-associated VAR_016814 commonName VAR_016814 VAR_016814 disease phenotype-associated VAR_016814 phenoCommon Retinitis punctata albescens (RPA) [MIM:136880] VAR_016815 commonName VAR_016815 VAR_016815 disease phenotype-associated VAR_016815 phenoCommon Retinitis punctata albescens (RPA) [MIM:136880] VAR_016816 commonName VAR_016816 VAR_016816 disease phenotype-associated VAR_016816 phenoCommon Retinitis punctata albescens (RPA) [MIM:136880] VAR_016817 commonName VAR_016817 VAR_016817 disease phenotype-associated VAR_016817 phenoCommon Retinitis punctata albescens (RPA) [MIM:136880] VAR_016818 commonName VAR_016818 VAR_016818 disease phenotype-associated VAR_016818 phenoCommon Retinitis punctata albescens (RPA) [MIM:136880] VAR_016824 commonName VAR_016824 VAR_016824 disease phenotype-associated VAR_016824 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_016825 commonName VAR_016825 VAR_016826 commonName VAR_016826 VAR_016826 disease phenotype-associated VAR_016826 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_016827 commonName VAR_016827 VAR_016828 commonName VAR_016828 VAR_016828 disease phenotype-associated VAR_016828 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_016829 commonName VAR_016829 VAR_016829 disease phenotype-associated VAR_016829 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_016830 commonName VAR_016830 VAR_016830 disease phenotype-associated VAR_016830 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_016838 commonName VAR_016838 VAR_016838 disease phenotype-associated VAR_016838 phenoCommon Ectodermal dysplasia type 2 (ED2) [MIM:129500] VAR_016839 commonName VAR_016839 VAR_016839 disease not phenotype-associated VAR_016840 commonName VAR_016840 VAR_016840 disease phenotype-associated VAR_016840 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220] VAR_016842 commonName VAR_016842 VAR_016842 disease phenotype-associated VAR_016842 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_016843 commonName VAR_016843 VAR_016843 disease phenotype-associated VAR_016843 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_016844 commonName VAR_016844 VAR_016844 disease phenotype-associated VAR_016844 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_016845 commonName VAR_016845 VAR_016845 disease phenotype-associated VAR_016845 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_016846 commonName VAR_016846 VAR_016846 disease phenotype-associated VAR_016846 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_016847 commonName VAR_016847 VAR_016847 disease phenotype-associated VAR_016847 phenoCommon Non-ketotic hyperglycinemia (NKH) [MIM:605899] VAR_016848 commonName VAR_016848 VAR_016848 disease phenotype-associated VAR_016848 phenoCommon Non-ketotic hyperglycinemia (NKH) [MIM:605899] VAR_016849 commonName VAR_016849 VAR_016849 disease phenotype-associated VAR_016849 phenoCommon Non-ketotic hyperglycinemia (NKH) [MIM:605899] VAR_016850 commonName VAR_016850 VAR_016851 commonName VAR_016851 VAR_016851 disease phenotype-associated VAR_016851 phenoCommon Non-ketotic hyperglycinemia (NKH) [MIM:605899] VAR_016852 commonName VAR_016852 VAR_016852 disease not phenotype-associated VAR_016853 commonName VAR_016853 VAR_016853 disease not phenotype-associated VAR_016855 commonName VAR_016855 VAR_016855 disease not phenotype-associated VAR_016856 commonName VAR_016856 VAR_016856 disease not phenotype-associated VAR_016857 commonName VAR_016857 VAR_016857 disease not phenotype-associated VAR_016858 commonName VAR_016858 VAR_016858 disease not phenotype-associated VAR_016864 commonName VAR_016864 VAR_016864 disease phenotype-associated VAR_016864 phenoCommon Anterior segment anomalies with or without cataract (ASA) [MIM:602588] VAR_016865 commonName VAR_016865 VAR_016865 disease phenotype-associated VAR_016865 phenoCommon Branchiootorenal syndrome type 1 (BOR1) [MIM:113650] VAR_016866 commonName VAR_016866 VAR_016866 disease phenotype-associated VAR_016866 phenoCommon Branchiootorenal syndrome type 1 (BOR1) [MIM:113650] VAR_016867 commonName VAR_016867 VAR_016867 disease phenotype-associated VAR_016867 phenoCommon Branchiootorenal syndrome type 1 (BOR1) [MIM:113650] VAR_016868 commonName VAR_016868 VAR_016868 disease phenotype-associated VAR_016868 phenoCommon Anterior segment anomalies with or without cataract (ASA) [MIM:602588] VAR_016869 commonName VAR_016869 VAR_016869 disease phenotype-associated VAR_016869 phenoCommon Branchiootorenal syndrome type 1 (BOR1) [MIM:113650] VAR_016870 commonName VAR_016870 VAR_016870 disease not phenotype-associated VAR_016871 commonName VAR_016871 VAR_016871 disease not phenotype-associated VAR_016872 commonName VAR_016872 VAR_016872 disease not phenotype-associated VAR_016874 commonName VAR_016874 VAR_016874 disease phenotype-associated VAR_016874 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_016875 commonName VAR_016875 VAR_016875 disease not phenotype-associated VAR_016876 commonName VAR_016876 VAR_016876 disease not phenotype-associated VAR_016877 commonName VAR_016877 VAR_016877 disease phenotype-associated VAR_016877 phenoCommon Retinitis pigmentosa type 18 (RP18) [MIM:601414] VAR_016880 commonName VAR_016880 VAR_016880 disease phenotype-associated VAR_016880 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] VAR_016881 commonName VAR_016881 VAR_016881 disease phenotype-associated VAR_016881 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] VAR_016882 commonName VAR_016882 VAR_016882 disease phenotype-associated VAR_016882 phenoCommon Bamforth-Lazarus syndrome (BLS) [MIM:241850] VAR_016883 commonName VAR_016883 VAR_016883 disease phenotype-associated VAR_016883 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] VAR_016885 commonName VAR_016885 VAR_016885 disease phenotype-associated VAR_016885 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] VAR_016886 commonName VAR_016886 VAR_016886 disease phenotype-associated VAR_016886 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] VAR_016887 commonName VAR_016887 VAR_016887 disease phenotype-associated VAR_016887 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] VAR_016888 commonName VAR_016888 VAR_016888 disease phenotype-associated VAR_016888 phenoCommon Dystonia type 5 (DYT5) [MIM:128230] VAR_016889 commonName VAR_016889 VAR_016889 disease phenotype-associated VAR_016889 phenoCommon Dystonia type 5 (DYT5) [MIM:128230] VAR_016890 commonName VAR_016890 VAR_016890 disease phenotype-associated VAR_016890 phenoCommon Dystonia type 5 (DYT5) [MIM:128230] VAR_016892 commonName VAR_016892 VAR_016892 disease phenotype-associated VAR_016892 phenoCommon Dystonia type 5 (DYT5) [MIM:128230] VAR_016893 commonName VAR_016893 VAR_016893 disease phenotype-associated VAR_016893 phenoCommon Dystonia type 5 (DYT5) [MIM:128230] VAR_016894 commonName VAR_016894 VAR_016894 disease phenotype-associated VAR_016894 phenoCommon GTP cyclohydrolase 1 deficiency (GCH1D) [MIM:233910] VAR_016895 commonName VAR_016895 VAR_016895 disease phenotype-associated VAR_016895 phenoCommon Dystonia type 5 (DYT5) [MIM:128230] VAR_016896 commonName VAR_016896 VAR_016896 disease phenotype-associated VAR_016896 phenoCommon Dystonia type 5 (DYT5) [MIM:128230] VAR_016897 commonName VAR_016897 VAR_016897 disease phenotype-associated VAR_016897 phenoCommon Dystonia type 5 (DYT5) [MIM:128230] VAR_016898 commonName VAR_016898 VAR_016898 disease phenotype-associated VAR_016898 phenoCommon Dystonia type 5 (DYT5) [MIM:128230] VAR_016908 commonName VAR_016908 VAR_016908 disease phenotype-associated VAR_016908 phenoCommon Congenital afibrinogenemia (CAFBN) [MIM:202400] VAR_016909 commonName VAR_016909 VAR_016909 disease phenotype-associated VAR_016909 phenoCommon Congenital afibrinogenemia (CAFBN) [MIM:202400] VAR_016910 commonName VAR_016910 VAR_016910 disease phenotype-associated VAR_016910 phenoCommon Congenital afibrinogenemia (CAFBN) [MIM:202400] VAR_016911 commonName VAR_016911 VAR_016911 disease phenotype-associated VAR_016911 phenoCommon 3-methylglutaconic aciduria type 1 (MGA1) [MIM:250950] VAR_016912 commonName VAR_016912 VAR_016912 disease not phenotype-associated VAR_016913 commonName VAR_016913 VAR_016913 disease phenotype-associated VAR_016913 phenoCommon Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660] VAR_016914 commonName VAR_016914 VAR_016914 disease not phenotype-associated VAR_016915 commonName VAR_016915 VAR_016915 disease not phenotype-associated VAR_016916 commonName VAR_016916 VAR_016916 disease phenotype-associated VAR_016916 phenoCommon Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040] VAR_016917 commonName VAR_016917 VAR_016917 disease not phenotype-associated VAR_016918 commonName VAR_016918 VAR_016919 commonName VAR_016919 VAR_016920 commonName VAR_016920 VAR_016920 disease not phenotype-associated VAR_016921 commonName VAR_016921 VAR_016921 disease not phenotype-associated VAR_016922 commonName VAR_016922 VAR_016922 disease not phenotype-associated VAR_016924 commonName VAR_016924 VAR_016924 disease not phenotype-associated VAR_016925 commonName VAR_016925 VAR_016925 disease not phenotype-associated VAR_016926 commonName VAR_016926 VAR_016926 disease not phenotype-associated VAR_016927 commonName VAR_016927 VAR_016927 disease not phenotype-associated VAR_016928 commonName VAR_016928 VAR_016928 disease not phenotype-associated VAR_016929 commonName VAR_016929 VAR_016929 disease not phenotype-associated VAR_016930 commonName VAR_016930 VAR_016930 disease phenotype-associated VAR_016930 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] VAR_016931 commonName VAR_016931 VAR_016931 disease phenotype-associated VAR_016931 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] VAR_016932 commonName VAR_016932 VAR_016932 disease phenotype-associated VAR_016932 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] VAR_016933 commonName VAR_016933 VAR_016933 disease phenotype-associated VAR_016933 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000] VAR_016934 commonName VAR_016934 VAR_016934 disease phenotype-associated VAR_016934 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000] VAR_016935 commonName VAR_016935 VAR_016935 disease phenotype-associated VAR_016935 phenoCommon Haim-Munk syndrome (HMS) [MIM:245010] VAR_016935 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000] VAR_016937 commonName VAR_016937 VAR_016937 disease not phenotype-associated VAR_016938 commonName VAR_016938 VAR_016938 disease not phenotype-associated VAR_016939 commonName VAR_016939 VAR_016939 disease not phenotype-associated VAR_016940 commonName VAR_016940 VAR_016940 disease not phenotype-associated VAR_016941 commonName VAR_016941 VAR_016941 disease not phenotype-associated VAR_016942 commonName VAR_016942 VAR_016942 disease not phenotype-associated VAR_016943 commonName VAR_016943 VAR_016943 disease not phenotype-associated VAR_016947 commonName VAR_016947 VAR_016947 disease not phenotype-associated VAR_016948 commonName VAR_016948 VAR_016948 disease not phenotype-associated VAR_016949 commonName VAR_016949 VAR_016949 disease phenotype-associated VAR_016949 phenoCommon Adrenal insufficiency congenital with 46,XY sex reversal (AICSR) [MIM:613743] VAR_016951 commonName VAR_016951 VAR_016951 disease phenotype-associated VAR_016951 phenoCommon Adrenal insufficiency congenital with 46,XY sex reversal (AICSR) [MIM:613743] VAR_016952 commonName VAR_016952 VAR_016952 disease phenotype-associated VAR_016952 phenoCommon Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700] VAR_016953 commonName VAR_016953 VAR_016953 disease phenotype-associated VAR_016953 phenoCommon Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700] VAR_016954 commonName VAR_016954 VAR_016954 disease phenotype-associated VAR_016954 phenoCommon Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700] VAR_016962 commonName VAR_016962 VAR_016962 disease phenotype-associated VAR_016962 phenoCommon Aromatase deficiency (AROD) [MIM:613546] VAR_016963 commonName VAR_016963 VAR_016963 disease phenotype-associated VAR_016963 phenoCommon Aromatase deficiency (AROD) [MIM:613546] VAR_016966 commonName VAR_016966 VAR_016966 disease phenotype-associated VAR_016966 phenoCommon Cerebrotendinous xanthomatosis (CTX) [MIM:213700] VAR_016967 commonName VAR_016967 VAR_016967 disease phenotype-associated VAR_016967 phenoCommon Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700] VAR_016969 commonName VAR_016969 VAR_016969 disease phenotype-associated VAR_016969 phenoCommon Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700] VAR_016975 commonName VAR_016975 VAR_016975 disease phenotype-associated VAR_016975 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_016976 commonName VAR_016976 VAR_016976 disease not phenotype-associated VAR_016977 commonName VAR_016977 VAR_016977 disease phenotype-associated VAR_016977 phenoCommon Char syndrome (CHAR) [MIM:169100] VAR_016978 commonName VAR_016978 VAR_016978 disease phenotype-associated VAR_016978 phenoCommon Char syndrome (CHAR) [MIM:169100] VAR_016979 commonName VAR_016979 VAR_016979 disease phenotype-associated VAR_016979 phenoCommon Char syndrome (CHAR) [MIM:169100] VAR_016980 commonName VAR_016980 VAR_016980 disease phenotype-associated VAR_016980 phenoCommon Char syndrome (CHAR) [MIM:169100] VAR_016981 commonName VAR_016981 VAR_016981 disease not phenotype-associated VAR_016982 commonName VAR_016982 VAR_016982 disease phenotype-associated VAR_016982 phenoCommon 46,XY sex reversal type 3 (SRXY3) [MIM:612965] VAR_016983 commonName VAR_016983 VAR_016983 disease phenotype-associated VAR_016983 phenoCommon Adrenocortical insufficiency without ovarian defect (ACIWOD) [MIM:184757] VAR_016984 commonName VAR_016984 VAR_016984 disease not phenotype-associated VAR_016985 commonName VAR_016985 VAR_016985 disease not phenotype-associated VAR_016986 commonName VAR_016986 VAR_016986 disease not phenotype-associated VAR_016988 commonName VAR_016988 VAR_016988 disease not phenotype-associated VAR_016989 commonName VAR_016989 VAR_016989 disease not phenotype-associated VAR_016990 commonName VAR_016990 VAR_016990 disease not phenotype-associated VAR_016991 commonName VAR_016991 VAR_016991 disease not phenotype-associated VAR_016992 commonName VAR_016992 VAR_016992 disease not phenotype-associated VAR_016993 commonName VAR_016993 VAR_016993 disease not phenotype-associated VAR_016994 commonName VAR_016994 VAR_016994 disease not phenotype-associated VAR_016995 commonName VAR_016995 VAR_016995 disease not phenotype-associated VAR_016996 commonName VAR_016996 VAR_016996 disease not phenotype-associated VAR_016997 commonName VAR_016997 VAR_016997 disease not phenotype-associated VAR_016998 commonName VAR_016998 VAR_016998 disease not phenotype-associated VAR_016999 commonName VAR_016999 VAR_016999 disease not phenotype-associated VAR_017000 commonName VAR_017000 VAR_017000 disease not phenotype-associated VAR_017001 commonName VAR_017001 VAR_017001 disease not phenotype-associated VAR_017002 commonName VAR_017002 VAR_017002 disease not phenotype-associated VAR_017003 commonName VAR_017003 VAR_017003 disease not phenotype-associated VAR_017004 commonName VAR_017004 VAR_017004 disease not phenotype-associated VAR_017005 commonName VAR_017005 VAR_017005 disease not phenotype-associated VAR_017006 commonName VAR_017006 VAR_017006 disease not phenotype-associated VAR_017007 commonName VAR_017007 VAR_017008 commonName VAR_017008 VAR_017008 disease not phenotype-associated VAR_017009 commonName VAR_017009 VAR_017009 disease not phenotype-associated VAR_017010 commonName VAR_017010 VAR_017010 disease not phenotype-associated VAR_017012 commonName VAR_017012 VAR_017012 disease not phenotype-associated VAR_017013 commonName VAR_017013 VAR_017013 disease not phenotype-associated VAR_017014 commonName VAR_017014 VAR_017014 disease not phenotype-associated VAR_017015 commonName VAR_017015 VAR_017015 disease not phenotype-associated VAR_017016 commonName VAR_017016 VAR_017017 commonName VAR_017017 VAR_017017 disease not phenotype-associated VAR_017018 commonName VAR_017018 VAR_017018 disease not phenotype-associated VAR_017019 commonName VAR_017019 VAR_017019 disease not phenotype-associated VAR_017020 commonName VAR_017020 VAR_017020 disease not phenotype-associated VAR_017021 commonName VAR_017021 VAR_017021 disease not phenotype-associated VAR_017022 commonName VAR_017022 VAR_017022 disease not phenotype-associated VAR_017024 commonName VAR_017024 VAR_017024 disease not phenotype-associated VAR_017025 commonName VAR_017025 VAR_017025 disease not phenotype-associated VAR_017026 commonName VAR_017026 VAR_017026 disease not phenotype-associated VAR_017027 commonName VAR_017027 VAR_017027 disease not phenotype-associated VAR_017028 commonName VAR_017028 VAR_017028 disease not phenotype-associated VAR_017029 commonName VAR_017029 VAR_017029 disease not phenotype-associated VAR_017030 commonName VAR_017030 VAR_017030 disease not phenotype-associated VAR_017031 commonName VAR_017031 VAR_017031 disease phenotype-associated VAR_017031 phenoCommon Retinitis pigmentosa type 10 (RP10) [MIM:180105] VAR_017032 commonName VAR_017032 VAR_017032 disease phenotype-associated VAR_017032 phenoCommon Retinitis pigmentosa type 10 (RP10) [MIM:180105] VAR_017033 commonName VAR_017033 VAR_017033 disease phenotype-associated VAR_017033 phenoCommon Retinitis pigmentosa type 10 (RP10) [MIM:180105] VAR_017034 commonName VAR_017034 VAR_017034 disease phenotype-associated VAR_017034 phenoCommon Retinitis pigmentosa type 44 (RP44) [MIM:613769] VAR_017035 commonName VAR_017035 VAR_017035 disease phenotype-associated VAR_017035 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] VAR_017036 commonName VAR_017036 VAR_017036 disease phenotype-associated VAR_017036 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] VAR_017037 commonName VAR_017037 VAR_017037 disease phenotype-associated VAR_017037 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] VAR_017038 commonName VAR_017038 VAR_017038 disease phenotype-associated VAR_017038 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] VAR_017039 commonName VAR_017039 VAR_017039 disease phenotype-associated VAR_017039 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] VAR_017040 commonName VAR_017040 VAR_017040 disease phenotype-associated VAR_017040 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] VAR_017041 commonName VAR_017041 VAR_017041 disease phenotype-associated VAR_017041 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] VAR_017042 commonName VAR_017042 VAR_017042 disease phenotype-associated VAR_017042 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] VAR_017043 commonName VAR_017043 VAR_017043 disease not phenotype-associated VAR_017049 commonName VAR_017049 VAR_017049 disease phenotype-associated VAR_017049 phenoCommon Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900] VAR_017050 commonName VAR_017050 VAR_017050 disease phenotype-associated VAR_017050 phenoCommon Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900] VAR_017055 commonName VAR_017055 VAR_017055 disease not phenotype-associated VAR_017056 commonName VAR_017056 VAR_017056 disease not phenotype-associated VAR_017057 commonName VAR_017057 VAR_017057 disease not phenotype-associated VAR_017058 commonName VAR_017058 VAR_017058 disease not phenotype-associated VAR_017059 commonName VAR_017059 VAR_017059 disease not phenotype-associated VAR_017060 commonName VAR_017060 VAR_017060 disease phenotype-associated VAR_017060 phenoCommon Spinocerebellar ataxia type 14 (SCA14) [MIM:605361] VAR_017061 commonName VAR_017061 VAR_017061 disease phenotype-associated VAR_017061 phenoCommon Spinocerebellar ataxia type 14 (SCA14) [MIM:605361] VAR_017062 commonName VAR_017062 VAR_017062 disease phenotype-associated VAR_017062 phenoCommon Spinocerebellar ataxia type 14 (SCA14) [MIM:605361] VAR_017063 commonName VAR_017063 VAR_017063 disease not phenotype-associated VAR_017064 commonName VAR_017064 VAR_017065 commonName VAR_017065 VAR_017065 disease phenotype-associated VAR_017065 phenoCommon Pachyonychia congenita type 1 (PC1) [MIM:167200] VAR_017066 commonName VAR_017066 VAR_017066 disease phenotype-associated VAR_017066 phenoCommon Pachyonychia congenita type 1 (PC1) [MIM:167200] VAR_017067 commonName VAR_017067 VAR_017067 disease phenotype-associated VAR_017067 phenoCommon Pachyonychia congenita type 1 (PC1) [MIM:167200] VAR_017068 commonName VAR_017068 VAR_017068 disease phenotype-associated VAR_017068 phenoCommon Pachyonychia congenita type 2 (PC2) [MIM:167210] VAR_017070 commonName VAR_017070 VAR_017070 disease phenotype-associated VAR_017070 phenoCommon Pachyonychia congenita type 2 (PC2) [MIM:167210] VAR_017071 commonName VAR_017071 VAR_017071 disease phenotype-associated VAR_017071 phenoCommon Pachyonychia congenita type 2 (PC2) [MIM:167210] VAR_017073 commonName VAR_017073 VAR_017073 disease phenotype-associated VAR_017073 phenoCommon Pachyonychia congenita type 2 (PC2) [MIM:167210] VAR_017074 commonName VAR_017074 VAR_017074 disease phenotype-associated VAR_017074 phenoCommon Pachyonychia congenita type 2 (PC2) [MIM:167210] VAR_017075 commonName VAR_017075 VAR_017075 disease phenotype-associated VAR_017075 phenoCommon Pachyonychia congenita type 1 (PC1) [MIM:167200] VAR_017076 commonName VAR_017076 VAR_017076 disease phenotype-associated VAR_017076 phenoCommon Pachyonychia congenita type 1 (PC1) [MIM:167200] VAR_017077 commonName VAR_017077 VAR_017077 disease phenotype-associated VAR_017077 phenoCommon Pachyonychia congenita type 1 (PC1) [MIM:167200] VAR_017078 commonName VAR_017078 VAR_017078 disease phenotype-associated VAR_017078 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] VAR_017079 commonName VAR_017079 VAR_017079 disease phenotype-associated VAR_017079 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] VAR_017080 commonName VAR_017080 VAR_017080 disease phenotype-associated VAR_017080 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] VAR_017081 commonName VAR_017081 VAR_017081 disease phenotype-associated VAR_017081 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] VAR_017082 commonName VAR_017082 VAR_017082 disease phenotype-associated VAR_017082 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] VAR_017083 commonName VAR_017083 VAR_017083 disease phenotype-associated VAR_017083 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] VAR_017084 commonName VAR_017084 VAR_017084 disease phenotype-associated VAR_017084 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] VAR_017085 commonName VAR_017085 VAR_017085 disease phenotype-associated VAR_017085 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] VAR_017086 commonName VAR_017086 VAR_017086 disease phenotype-associated VAR_017086 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] VAR_017087 commonName VAR_017087 VAR_017087 disease phenotype-associated VAR_017087 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] VAR_017088 commonName VAR_017088 VAR_017088 disease phenotype-associated VAR_017088 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] VAR_017089 commonName VAR_017089 VAR_017089 disease phenotype-associated VAR_017089 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] VAR_017090 commonName VAR_017090 VAR_017090 disease phenotype-associated VAR_017090 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] VAR_017091 commonName VAR_017091 VAR_017091 disease phenotype-associated VAR_017091 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] VAR_017092 commonName VAR_017092 VAR_017092 disease phenotype-associated VAR_017092 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] VAR_017093 commonName VAR_017093 VAR_017093 disease phenotype-associated VAR_017093 phenoCommon Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] VAR_017094 commonName VAR_017094 VAR_017094 disease phenotype-associated VAR_017094 phenoCommon Immunodeficiency with hyper-IgM type 5 (HIGM5) [MIM:608106] VAR_017095 commonName VAR_017095 VAR_017095 disease not phenotype-associated VAR_017098 commonName VAR_017098 VAR_017098 disease not phenotype-associated VAR_017099 commonName VAR_017099 VAR_017099 disease not phenotype-associated VAR_017100 commonName VAR_017100 VAR_017100 disease not phenotype-associated VAR_017101 commonName VAR_017101 VAR_017101 disease not phenotype-associated VAR_017102 commonName VAR_017102 VAR_017102 disease phenotype-associated VAR_017102 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170] VAR_017103 commonName VAR_017103 VAR_017103 disease phenotype-associated VAR_017103 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170] VAR_017104 commonName VAR_017104 VAR_017104 disease not phenotype-associated VAR_017105 commonName VAR_017105 VAR_017105 disease phenotype-associated VAR_017105 phenoCommon Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] VAR_017106 commonName VAR_017106 VAR_017106 disease not phenotype-associated VAR_017108 commonName VAR_017108 VAR_017108 disease not phenotype-associated VAR_017109 commonName VAR_017109 VAR_017109 disease not phenotype-associated VAR_017110 commonName VAR_017110 VAR_017110 disease not phenotype-associated VAR_017111 commonName VAR_017111 VAR_017111 disease not phenotype-associated VAR_017113 commonName VAR_017113 VAR_017113 disease not phenotype-associated VAR_017115 commonName VAR_017115 VAR_017115 disease not phenotype-associated VAR_017117 commonName VAR_017117 VAR_017117 disease not phenotype-associated VAR_017118 commonName VAR_017118 VAR_017118 disease not phenotype-associated VAR_017119 commonName VAR_017119 VAR_017119 disease not phenotype-associated VAR_017120 commonName VAR_017120 VAR_017120 disease not phenotype-associated VAR_017121 commonName VAR_017121 VAR_017121 disease not phenotype-associated VAR_017122 commonName VAR_017122 VAR_017122 disease phenotype-associated VAR_017122 phenoCommon Cryptorchidism (CRYPTO) [MIM:219050] VAR_017125 commonName VAR_017125 VAR_017125 disease not phenotype-associated VAR_017126 commonName VAR_017126 VAR_017126 disease phenotype-associated VAR_017126 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100] VAR_017127 commonName VAR_017127 VAR_017127 disease phenotype-associated VAR_017127 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100] VAR_017128 commonName VAR_017128 VAR_017128 disease phenotype-associated VAR_017128 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100] VAR_017129 commonName VAR_017129 VAR_017129 disease phenotype-associated VAR_017129 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100] VAR_017130 commonName VAR_017130 VAR_017130 disease phenotype-associated VAR_017130 phenoCommon Retinitis pigmentosa type 20 (RP20) [MIM:613794] VAR_017131 commonName VAR_017131 VAR_017131 disease phenotype-associated VAR_017131 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100] VAR_017132 commonName VAR_017132 VAR_017132 disease phenotype-associated VAR_017132 phenoCommon Retinitis pigmentosa type 20 (RP20) [MIM:613794] VAR_017133 commonName VAR_017133 VAR_017133 disease phenotype-associated VAR_017133 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100] VAR_017134 commonName VAR_017134 VAR_017134 disease phenotype-associated VAR_017134 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100] VAR_017135 commonName VAR_017135 VAR_017135 disease phenotype-associated VAR_017135 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100] VAR_017136 commonName VAR_017136 VAR_017136 disease phenotype-associated VAR_017136 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100] VAR_017137 commonName VAR_017137 VAR_017137 disease phenotype-associated VAR_017137 phenoCommon Retinitis pigmentosa type 20 (RP20) [MIM:613794] VAR_017138 commonName VAR_017138 VAR_017138 disease phenotype-associated VAR_017138 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100] VAR_017139 commonName VAR_017139 VAR_017139 disease phenotype-associated VAR_017139 phenoCommon Retinitis pigmentosa type 20 (RP20) [MIM:613794] VAR_017140 commonName VAR_017140 VAR_017140 disease phenotype-associated VAR_017140 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100] VAR_017141 commonName VAR_017141 VAR_017141 disease phenotype-associated VAR_017141 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100] VAR_017142 commonName VAR_017142 VAR_017142 disease phenotype-associated VAR_017142 phenoCommon Retinitis pigmentosa type 20 (RP20) [MIM:613794] VAR_017143 commonName VAR_017143 VAR_017143 disease phenotype-associated VAR_017143 phenoCommon Dystonia type 11 (DYT11) [MIM:159900] VAR_017144 commonName VAR_017144 VAR_017144 disease phenotype-associated VAR_017144 phenoCommon Spinocerebellar ataxia autosomal recessive with axonal neuropathy (SCAN1) [MIM:607250] VAR_017145 commonName VAR_017145 VAR_017146 commonName VAR_017146 VAR_017146 disease phenotype-associated VAR_017146 phenoCommon Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600] VAR_017147 commonName VAR_017147 VAR_017147 disease phenotype-associated VAR_017147 phenoCommon Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600] VAR_017148 commonName VAR_017148 VAR_017148 disease phenotype-associated VAR_017148 phenoCommon Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600] VAR_017149 commonName VAR_017149 VAR_017149 disease phenotype-associated VAR_017149 phenoCommon Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600] VAR_017150 commonName VAR_017150 VAR_017150 disease not phenotype-associated VAR_017151 commonName VAR_017151 VAR_017151 disease not phenotype-associated VAR_017152 commonName VAR_017152 VAR_017152 disease not phenotype-associated VAR_017153 commonName VAR_017153 VAR_017153 disease phenotype-associated VAR_017153 phenoCommon Cutis laxa, autosomal recessive, type 1A (ARCL1A) [MIM:219100] VAR_017154 commonName VAR_017154 VAR_017154 disease not phenotype-associated VAR_017155 commonName VAR_017155 VAR_017155 disease not phenotype-associated VAR_017156 commonName VAR_017156 VAR_017156 disease not phenotype-associated VAR_017157 commonName VAR_017157 VAR_017157 disease not phenotype-associated VAR_017158 commonName VAR_017158 VAR_017158 disease not phenotype-associated VAR_017159 commonName VAR_017159 VAR_017159 disease not phenotype-associated VAR_017160 commonName VAR_017160 VAR_017160 disease not phenotype-associated VAR_017164 commonName VAR_017164 VAR_017164 disease phenotype-associated VAR_017164 phenoCommon Cerebellar ataxia, cayman type (ATCAY) [MIM:601238] VAR_017171 commonName VAR_017171 VAR_017171 disease not phenotype-associated VAR_017172 commonName VAR_017172 VAR_017172 disease not phenotype-associated VAR_017173 commonName VAR_017173 VAR_017173 disease not phenotype-associated VAR_017174 commonName VAR_017174 VAR_017174 disease not phenotype-associated VAR_017175 commonName VAR_017175 VAR_017175 disease phenotype-associated VAR_017175 phenoCommon Deafness autosomal dominant type 9 (DFNA9) [MIM:601369] VAR_017176 commonName VAR_017176 VAR_017176 disease not phenotype-associated VAR_017177 commonName VAR_017177 VAR_017177 disease not phenotype-associated VAR_017178 commonName VAR_017178 VAR_017178 disease not phenotype-associated VAR_017182 commonName VAR_017182 VAR_017182 disease not phenotype-associated VAR_017183 commonName VAR_017183 VAR_017183 disease not phenotype-associated VAR_017184 commonName VAR_017184 VAR_017184 disease phenotype-associated VAR_017184 phenoCommon Charcot-Marie-Tooth disease type 4A (CMT4A) [MIM:214400] VAR_017185 commonName VAR_017185 VAR_017185 disease phenotype-associated VAR_017185 phenoCommon Charcot-Marie-Tooth disease type 4A (CMT4A) [MIM:214400] VAR_017188 commonName VAR_017188 VAR_017188 disease phenotype-associated VAR_017188 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] VAR_017189 commonName VAR_017189 VAR_017189 disease phenotype-associated VAR_017189 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] VAR_017190 commonName VAR_017190 VAR_017190 disease not phenotype-associated VAR_017191 commonName VAR_017191 VAR_017191 disease not phenotype-associated VAR_017192 commonName VAR_017192 VAR_017192 disease not phenotype-associated VAR_017193 commonName VAR_017193 VAR_017193 disease not phenotype-associated VAR_017194 commonName VAR_017194 VAR_017194 disease not phenotype-associated VAR_017195 commonName VAR_017195 VAR_017195 disease not phenotype-associated VAR_017196 commonName VAR_017196 VAR_017196 disease not phenotype-associated VAR_017197 commonName VAR_017197 VAR_017197 disease not phenotype-associated VAR_017198 commonName VAR_017198 VAR_017198 disease not phenotype-associated VAR_017199 commonName VAR_017199 VAR_017199 disease phenotype-associated VAR_017199 phenoCommon Hypercholesterolemia autosomal dominant type 3 (HCHOLA3) [MIM:603776] VAR_017200 commonName VAR_017200 VAR_017200 disease phenotype-associated VAR_017200 phenoCommon Hypercholesterolemia autosomal dominant type 3 (HCHOLA3) [MIM:603776] VAR_017201 commonName VAR_017201 VAR_017201 disease not phenotype-associated VAR_017202 commonName VAR_017202 VAR_017202 disease phenotype-associated VAR_017202 phenoCommon Methylmalonic aciduria type cblA (MMAA) [MIM:251100] VAR_017203 commonName VAR_017203 VAR_017203 disease not phenotype-associated VAR_017204 commonName VAR_017204 VAR_017204 disease phenotype-associated VAR_017204 phenoCommon Methylmalonic aciduria type cblB (MMAB) [MIM:251110] VAR_017209 commonName VAR_017209 VAR_017209 disease phenotype-associated VAR_017209 phenoCommon Ellis-van Creveld syndrome (EVC) [MIM:225500] VAR_017210 commonName VAR_017210 VAR_017210 disease not phenotype-associated VAR_017212 commonName VAR_017212 VAR_017212 disease phenotype-associated VAR_017212 phenoCommon Bardet-Biedl syndrome type 7 (BBS7) [MIM:209900] VAR_017213 commonName VAR_017213 VAR_017213 disease phenotype-associated VAR_017213 phenoCommon Bardet-Biedl syndrome type 7 (BBS7) [MIM:209900] VAR_017215 commonName VAR_017215 VAR_017215 disease phenotype-associated VAR_017215 phenoCommon Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900] VAR_017216 commonName VAR_017216 VAR_017216 disease phenotype-associated VAR_017216 phenoCommon Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900] VAR_017218 commonName VAR_017218 VAR_017218 disease phenotype-associated VAR_017218 phenoCommon Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120] VAR_017219 commonName VAR_017219 VAR_017219 disease phenotype-associated VAR_017219 phenoCommon Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120] VAR_017220 commonName VAR_017220 VAR_017220 disease phenotype-associated VAR_017220 phenoCommon Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120] VAR_017221 commonName VAR_017221 VAR_017221 disease phenotype-associated VAR_017221 phenoCommon Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120] VAR_017222 commonName VAR_017222 VAR_017222 disease phenotype-associated VAR_017222 phenoCommon Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120] VAR_017223 commonName VAR_017223 VAR_017223 disease phenotype-associated VAR_017223 phenoCommon Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120] VAR_017224 commonName VAR_017224 VAR_017224 disease phenotype-associated VAR_017224 phenoCommon Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120] VAR_017225 commonName VAR_017225 VAR_017225 disease phenotype-associated VAR_017225 phenoCommon Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120] VAR_017226 commonName VAR_017226 VAR_017226 disease phenotype-associated VAR_017226 phenoCommon Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120] VAR_017227 commonName VAR_017227 VAR_017227 disease not phenotype-associated VAR_017228 commonName VAR_017228 VAR_017228 disease phenotype-associated VAR_017228 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250] VAR_017229 commonName VAR_017229 VAR_017229 disease phenotype-associated VAR_017229 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250] VAR_017230 commonName VAR_017230 VAR_017230 disease phenotype-associated VAR_017230 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250] VAR_017231 commonName VAR_017231 VAR_017231 disease phenotype-associated VAR_017231 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250] VAR_017232 commonName VAR_017232 VAR_017232 disease phenotype-associated VAR_017232 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250] VAR_017233 commonName VAR_017233 VAR_017233 disease phenotype-associated VAR_017233 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250] VAR_017234 commonName VAR_017234 VAR_017234 disease phenotype-associated VAR_017234 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250] VAR_017235 commonName VAR_017235 VAR_017235 disease phenotype-associated VAR_017235 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250] VAR_017236 commonName VAR_017236 VAR_017236 disease phenotype-associated VAR_017236 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250] VAR_017237 commonName VAR_017237 VAR_017237 disease phenotype-associated VAR_017237 phenoCommon Hypomagnesemia type 3 (HOMG3) [MIM:248250] VAR_017238 comment Ovarian cancer VAR_017238 commonName VAR_017238 VAR_017239 comment Renal cell carcinoma cell line VAR_017239 commonName VAR_017239 VAR_017240 commonName VAR_017240 VAR_017240 disease not phenotype-associated VAR_017242 commonName VAR_017242 VAR_017242 disease not phenotype-associated VAR_017243 commonName VAR_017243 VAR_017243 disease phenotype-associated VAR_017243 phenoCommon Congenital disorder of glycosylation type 1J (CDG1J) [MIM:608093] VAR_017244 commonName VAR_017244 VAR_017244 disease phenotype-associated VAR_017244 phenoCommon Ovarian hyperstimulation syndrome (OHSS) [MIM:608115] VAR_017245 commonName VAR_017245 VAR_017245 disease phenotype-associated VAR_017245 phenoCommon Ovarian hyperstimulation syndrome (OHSS) [MIM:608115] VAR_017246 commonName VAR_017246 VAR_017246 disease not phenotype-associated VAR_017248 commonName VAR_017248 VAR_017248 disease not phenotype-associated VAR_017249 commonName VAR_017249 VAR_017249 disease not phenotype-associated VAR_017250 commonName VAR_017250 VAR_017250 disease not phenotype-associated VAR_017251 commonName VAR_017251 VAR_017251 disease not phenotype-associated VAR_017252 commonName VAR_017252 VAR_017252 disease phenotype-associated VAR_017252 phenoCommon Retinitis pigmentosa type 9 (RP9) [MIM:180104] VAR_017253 commonName VAR_017253 VAR_017253 disease phenotype-associated VAR_017253 phenoCommon Retinitis pigmentosa type 9 (RP9) [MIM:180104] VAR_017254 commonName VAR_017254 VAR_017254 disease not phenotype-associated VAR_017255 commonName VAR_017255 VAR_017255 disease phenotype-associated VAR_017255 phenoCommon Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722] VAR_017256 commonName VAR_017256 VAR_017256 disease phenotype-associated VAR_017256 phenoCommon Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722] VAR_017257 commonName VAR_017257 VAR_017257 disease phenotype-associated VAR_017257 phenoCommon Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722] VAR_017258 commonName VAR_017258 VAR_017258 disease not phenotype-associated VAR_017259 commonName VAR_017259 VAR_017259 disease phenotype-associated VAR_017259 phenoCommon Pfeiffer syndrome (PS) [MIM:101600] VAR_017260 commonName VAR_017260 VAR_017260 disease not phenotype-associated VAR_017261 commonName VAR_017261 VAR_017261 disease phenotype-associated VAR_017261 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_017263 commonName VAR_017263 VAR_017263 disease phenotype-associated VAR_017263 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_017264 commonName VAR_017264 VAR_017264 disease phenotype-associated VAR_017264 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_017265 commonName VAR_017265 VAR_017265 disease phenotype-associated VAR_017265 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_017266 commonName VAR_017266 VAR_017266 disease phenotype-associated VAR_017266 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_017267 commonName VAR_017267 VAR_017268 commonName VAR_017268 VAR_017268 disease phenotype-associated VAR_017268 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_017269 commonName VAR_017269 VAR_017269 disease phenotype-associated VAR_017269 phenoCommon Pfeiffer syndrome (PS) [MIM:101600] VAR_017270 commonName VAR_017270 VAR_017270 disease phenotype-associated VAR_017270 phenoCommon Pfeiffer syndrome (PS) [MIM:101600] VAR_017271 commonName VAR_017271 VAR_017271 disease phenotype-associated VAR_017271 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_017272 commonName VAR_017272 VAR_017272 disease phenotype-associated VAR_017272 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_017273 commonName VAR_017273 VAR_017273 disease phenotype-associated VAR_017273 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_017274 commonName VAR_017274 VAR_017274 disease phenotype-associated VAR_017274 phenoCommon Beare-Stevenson cutis gyrata syndrome (BSCGS) [MIM:123790] VAR_017275 commonName VAR_017275 VAR_017275 disease phenotype-associated VAR_017275 phenoCommon Beare-Stevenson cutis gyrata syndrome (BSCGS) [MIM:123790] VAR_017275 phenoCommon Pfeiffer syndrome (PS) [MIM:101600] VAR_017276 commonName VAR_017276 VAR_017276 disease phenotype-associated VAR_017276 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_017277 commonName VAR_017277 VAR_017277 disease phenotype-associated VAR_017277 phenoCommon Pfeiffer syndrome (PS) [MIM:101600] VAR_017278 commonName VAR_017278 VAR_017278 disease phenotype-associated VAR_017278 phenoCommon Pfeiffer syndrome (PS) [MIM:101600] VAR_017279 commonName VAR_017279 VAR_017280 commonName VAR_017280 VAR_017280 disease phenotype-associated VAR_017280 phenoCommon Pfeiffer syndrome (PS) [MIM:101600] VAR_017281 commonName VAR_017281 VAR_017281 disease phenotype-associated VAR_017281 phenoCommon Crouzon syndrome (CS) [MIM:123500] VAR_017282 commonName VAR_017282 VAR_017282 disease phenotype-associated VAR_017282 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] VAR_017283 commonName VAR_017283 VAR_017283 disease phenotype-associated VAR_017283 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] VAR_017284 commonName VAR_017284 VAR_017284 disease phenotype-associated VAR_017284 phenoCommon Trichothiodystrophy photosensitive (TTDP) [MIM:601675] VAR_017285 commonName VAR_017285 VAR_017285 disease phenotype-associated VAR_017285 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] VAR_017287 commonName VAR_017287 VAR_017287 disease phenotype-associated VAR_017287 phenoCommon Trichothiodystrophy photosensitive (TTDP) [MIM:601675] VAR_017288 commonName VAR_017288 VAR_017288 disease phenotype-associated VAR_017288 phenoCommon Trichothiodystrophy photosensitive (TTDP) [MIM:601675] VAR_017289 commonName VAR_017289 VAR_017289 disease phenotype-associated VAR_017289 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] VAR_017290 commonName VAR_017290 VAR_017290 disease phenotype-associated VAR_017290 phenoCommon Trichothiodystrophy photosensitive (TTDP) [MIM:601675] VAR_017291 commonName VAR_017291 VAR_017291 disease phenotype-associated VAR_017291 phenoCommon Trichothiodystrophy photosensitive (TTDP) [MIM:601675] VAR_017292 commonName VAR_017292 VAR_017292 disease phenotype-associated VAR_017292 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] VAR_017293 commonName VAR_017293 VAR_017293 disease phenotype-associated VAR_017293 phenoCommon Cerebro-oculo-facio-skeletal syndrome type 2 (COFS2) [MIM:610756] VAR_017293 phenoCommon Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] VAR_017295 commonName VAR_017295 VAR_017295 disease phenotype-associated VAR_017295 phenoCommon Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200] VAR_017296 commonName VAR_017296 VAR_017296 disease phenotype-associated VAR_017296 phenoCommon Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200] VAR_017297 commonName VAR_017297 VAR_017297 disease phenotype-associated VAR_017297 phenoCommon Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200] VAR_017298 commonName VAR_017298 VAR_017298 disease phenotype-associated VAR_017298 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044] VAR_017299 commonName VAR_017299 VAR_017299 disease phenotype-associated VAR_017299 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044] VAR_017300 commonName VAR_017300 VAR_017300 disease phenotype-associated VAR_017300 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044] VAR_017301 commonName VAR_017301 VAR_017301 disease phenotype-associated VAR_017301 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044] VAR_017302 commonName VAR_017302 VAR_017302 disease phenotype-associated VAR_017302 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044] VAR_017303 commonName VAR_017303 VAR_017303 disease phenotype-associated VAR_017303 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044] VAR_017304 commonName VAR_017304 VAR_017304 disease phenotype-associated VAR_017304 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044] VAR_017305 commonName VAR_017305 VAR_017305 disease not phenotype-associated VAR_017306 commonName VAR_017306 VAR_017306 disease not phenotype-associated VAR_017307 commonName VAR_017307 VAR_017308 commonName VAR_017308 VAR_017308 disease phenotype-associated VAR_017308 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017309 commonName VAR_017309 VAR_017309 disease phenotype-associated VAR_017309 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017310 commonName VAR_017310 VAR_017310 disease phenotype-associated VAR_017310 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017311 commonName VAR_017311 VAR_017311 disease phenotype-associated VAR_017311 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017312 commonName VAR_017312 VAR_017312 disease phenotype-associated VAR_017312 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017313 commonName VAR_017313 VAR_017313 disease phenotype-associated VAR_017313 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017314 commonName VAR_017314 VAR_017314 disease phenotype-associated VAR_017314 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017315 commonName VAR_017315 VAR_017315 disease phenotype-associated VAR_017315 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017316 commonName VAR_017316 VAR_017316 disease phenotype-associated VAR_017316 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017317 commonName VAR_017317 VAR_017317 disease phenotype-associated VAR_017317 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017318 commonName VAR_017318 VAR_017318 disease phenotype-associated VAR_017318 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017319 commonName VAR_017319 VAR_017319 disease phenotype-associated VAR_017319 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017320 commonName VAR_017320 VAR_017320 disease phenotype-associated VAR_017320 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017321 commonName VAR_017321 VAR_017321 disease phenotype-associated VAR_017321 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017322 commonName VAR_017322 VAR_017322 disease phenotype-associated VAR_017322 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017323 commonName VAR_017323 VAR_017323 disease phenotype-associated VAR_017323 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017324 commonName VAR_017324 VAR_017324 disease phenotype-associated VAR_017324 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017325 commonName VAR_017325 VAR_017325 disease phenotype-associated VAR_017325 phenoCommon Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594] VAR_017327 commonName VAR_017327 VAR_017327 disease phenotype-associated VAR_017327 phenoCommon Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594] VAR_017328 commonName VAR_017328 VAR_017328 disease phenotype-associated VAR_017328 phenoCommon Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594] VAR_017329 commonName VAR_017329 VAR_017329 disease phenotype-associated VAR_017329 phenoCommon Thrombophilia due to activated protein C resistance (THPH2) [MIM:188055] VAR_017330 commonName VAR_017330 VAR_017330 disease phenotype-associated VAR_017330 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_017331 commonName VAR_017331 VAR_017331 disease phenotype-associated VAR_017331 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_017332 commonName VAR_017332 VAR_017332 disease phenotype-associated VAR_017332 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_017333 commonName VAR_017333 VAR_017333 disease phenotype-associated VAR_017333 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_017334 commonName VAR_017334 VAR_017334 disease phenotype-associated VAR_017334 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_017335 commonName VAR_017335 VAR_017335 disease phenotype-associated VAR_017335 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_017336 commonName VAR_017336 VAR_017336 disease phenotype-associated VAR_017336 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_017337 commonName VAR_017337 VAR_017337 disease phenotype-associated VAR_017337 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_017338 commonName VAR_017338 VAR_017338 disease phenotype-associated VAR_017338 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_017339 commonName VAR_017339 VAR_017339 disease phenotype-associated VAR_017339 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_017340 commonName VAR_017340 VAR_017340 disease phenotype-associated VAR_017340 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_017341 commonName VAR_017341 VAR_017341 disease phenotype-associated VAR_017341 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_017343 commonName VAR_017343 VAR_017343 disease phenotype-associated VAR_017343 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017344 commonName VAR_017344 VAR_017344 disease phenotype-associated VAR_017344 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017345 commonName VAR_017345 VAR_017345 disease phenotype-associated VAR_017345 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017346 commonName VAR_017346 VAR_017346 disease phenotype-associated VAR_017346 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017347 commonName VAR_017347 VAR_017347 disease phenotype-associated VAR_017347 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017348 commonName VAR_017348 VAR_017348 disease phenotype-associated VAR_017348 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017349 commonName VAR_017349 VAR_017349 disease phenotype-associated VAR_017349 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017350 commonName VAR_017350 VAR_017350 disease phenotype-associated VAR_017350 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017351 commonName VAR_017351 VAR_017351 disease phenotype-associated VAR_017351 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017352 commonName VAR_017352 VAR_017352 disease phenotype-associated VAR_017352 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017353 commonName VAR_017353 VAR_017353 disease phenotype-associated VAR_017353 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017354 commonName VAR_017354 VAR_017354 disease phenotype-associated VAR_017354 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017355 commonName VAR_017355 VAR_017355 disease phenotype-associated VAR_017355 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017356 commonName VAR_017356 VAR_017356 disease phenotype-associated VAR_017356 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017357 commonName VAR_017357 VAR_017357 disease phenotype-associated VAR_017357 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017358 commonName VAR_017358 VAR_017358 disease phenotype-associated VAR_017358 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017359 commonName VAR_017359 VAR_017359 disease phenotype-associated VAR_017359 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017360 commonName VAR_017360 VAR_017360 disease phenotype-associated VAR_017360 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017361 commonName VAR_017361 VAR_017361 disease phenotype-associated VAR_017361 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017362 commonName VAR_017362 VAR_017362 disease phenotype-associated VAR_017362 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017363 commonName VAR_017363 VAR_017363 disease phenotype-associated VAR_017363 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017364 commonName VAR_017364 VAR_017364 disease phenotype-associated VAR_017364 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017365 commonName VAR_017365 VAR_017365 disease phenotype-associated VAR_017365 phenoCommon Recessive X-linked hemophilia B (HEMB) [MIM:306900] VAR_017366 commonName VAR_017366 VAR_017366 disease phenotype-associated VAR_017366 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_017367 commonName VAR_017367 VAR_017367 disease phenotype-associated VAR_017367 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_017368 commonName VAR_017368 VAR_017368 disease phenotype-associated VAR_017368 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_017369 commonName VAR_017369 VAR_017369 disease phenotype-associated VAR_017369 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_017370 commonName VAR_017370 VAR_017370 disease phenotype-associated VAR_017370 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_017371 commonName VAR_017371 VAR_017371 disease phenotype-associated VAR_017371 phenoCommon Bestrophinopathy autosomal recessive (ARB) [MIM:611809] VAR_017371 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_017372 commonName VAR_017372 VAR_017372 disease phenotype-associated VAR_017372 phenoCommon Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161] VAR_017373 commonName VAR_017373 VAR_017373 disease phenotype-associated VAR_017373 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_017374 commonName VAR_017374 VAR_017374 disease phenotype-associated VAR_017374 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_017375 commonName VAR_017375 VAR_017375 disease phenotype-associated VAR_017375 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_017376 commonName VAR_017376 VAR_017376 disease phenotype-associated VAR_017376 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_017377 commonName VAR_017377 VAR_017377 disease phenotype-associated VAR_017377 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_017378 commonName VAR_017378 VAR_017378 disease phenotype-associated VAR_017378 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_017379 commonName VAR_017379 VAR_017379 disease phenotype-associated VAR_017379 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_017380 commonName VAR_017380 VAR_017380 disease phenotype-associated VAR_017380 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_017381 commonName VAR_017381 VAR_017381 disease phenotype-associated VAR_017381 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_017382 commonName VAR_017382 VAR_017382 disease not phenotype-associated VAR_017383 commonName VAR_017383 VAR_017383 disease not phenotype-associated VAR_017384 commonName VAR_017384 VAR_017384 disease not phenotype-associated VAR_017385 commonName VAR_017385 VAR_017385 disease not phenotype-associated VAR_017386 commonName VAR_017386 VAR_017386 disease not phenotype-associated VAR_017388 commonName VAR_017388 VAR_017388 disease phenotype-associated VAR_017388 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710] VAR_017389 commonName VAR_017389 VAR_017389 disease phenotype-associated VAR_017389 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710] VAR_017397 commonName VAR_017397 VAR_017397 disease not phenotype-associated VAR_017398 commonName VAR_017398 VAR_017398 disease not phenotype-associated VAR_017399 commonName VAR_017399 VAR_017399 disease not phenotype-associated VAR_017400 commonName VAR_017400 VAR_017400 disease not phenotype-associated VAR_017401 commonName VAR_017401 VAR_017401 disease not phenotype-associated VAR_017404 commonName VAR_017404 VAR_017404 disease not phenotype-associated VAR_017405 commonName VAR_017405 VAR_017405 disease not phenotype-associated VAR_017406 commonName VAR_017406 VAR_017406 disease not phenotype-associated VAR_017407 commonName VAR_017407 VAR_017407 disease phenotype-associated VAR_017407 phenoCommon Acromesomelic chondrodysplasia Grebe type (AMDG) [MIM:200700] VAR_017408 commonName VAR_017408 VAR_017408 disease phenotype-associated VAR_017408 phenoCommon Brachydactyly type A2 (BDA2) [MIM:112600] VAR_017408 phenoCommon Du Pan syndrome (DPS) [MIM:228900] VAR_017410 commonName VAR_017410 VAR_017410 disease not phenotype-associated VAR_017412 commonName VAR_017412 VAR_017412 disease not phenotype-associated VAR_017413 commonName VAR_017413 VAR_017413 disease not phenotype-associated VAR_017414 commonName VAR_017414 VAR_017414 disease not phenotype-associated VAR_017415 commonName VAR_017415 VAR_017415 disease not phenotype-associated VAR_017416 commonName VAR_017416 VAR_017416 disease not phenotype-associated VAR_017417 commonName VAR_017417 VAR_017417 disease not phenotype-associated VAR_017418 commonName VAR_017418 VAR_017418 disease not phenotype-associated VAR_017419 commonName VAR_017419 VAR_017419 disease not phenotype-associated VAR_017420 commonName VAR_017420 VAR_017420 disease phenotype-associated VAR_017420 phenoCommon Head and neck squamous cell carcinomas (HNSCC) [MIM:275355] VAR_017421 commonName VAR_017421 VAR_017421 disease phenotype-associated VAR_017421 phenoCommon Head and neck squamous cell carcinomas (HNSCC) [MIM:275355] VAR_017422 commonName VAR_017422 VAR_017422 disease phenotype-associated VAR_017422 phenoCommon Head and neck squamous cell carcinomas (HNSCC) [MIM:275355] VAR_017423 commonName VAR_017423 VAR_017423 disease not phenotype-associated VAR_017425 commonName VAR_017425 VAR_017426 commonName VAR_017426 VAR_017426 disease not phenotype-associated VAR_017427 commonName VAR_017427 VAR_017428 commonName VAR_017428 VAR_017428 disease not phenotype-associated VAR_017429 commonName VAR_017429 VAR_017430 commonName VAR_017430 VAR_017430 disease not phenotype-associated VAR_017431 commonName VAR_017431 VAR_017432 commonName VAR_017432 VAR_017433 commonName VAR_017433 VAR_017433 disease not phenotype-associated VAR_017434 commonName VAR_017434 VAR_017434 disease not phenotype-associated VAR_017435 commonName VAR_017435 VAR_017436 commonName VAR_017436 VAR_017436 disease phenotype-associated VAR_017436 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] VAR_017437 commonName VAR_017437 VAR_017437 disease phenotype-associated VAR_017437 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] VAR_017438 commonName VAR_017438 VAR_017438 disease phenotype-associated VAR_017438 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004] VAR_017439 commonName VAR_017439 VAR_017439 disease phenotype-associated VAR_017439 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004] VAR_017440 commonName VAR_017440 VAR_017440 disease phenotype-associated VAR_017440 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004] VAR_017441 commonName VAR_017441 VAR_017441 disease phenotype-associated VAR_017441 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004] VAR_017443 commonName VAR_017443 VAR_017443 disease not phenotype-associated VAR_017445 commonName VAR_017445 VAR_017445 disease phenotype-associated VAR_017445 phenoCommon North American Indian childhood cirrhosis (NAIC) [MIM:604901] VAR_017446 commonName VAR_017446 VAR_017446 disease not phenotype-associated VAR_017447 commonName VAR_017447 VAR_017447 disease not phenotype-associated VAR_017448 commonName VAR_017448 VAR_017448 disease not phenotype-associated VAR_017449 commonName VAR_017449 VAR_017449 disease not phenotype-associated VAR_017450 commonName VAR_017450 VAR_017450 disease not phenotype-associated VAR_017451 commonName VAR_017451 VAR_017451 disease not phenotype-associated VAR_017452 commonName VAR_017452 VAR_017452 disease phenotype-associated VAR_017452 phenoCommon Neutrophil immunodeficiency syndrome (NEUID) [MIM:608203] VAR_017453 commonName VAR_017453 VAR_017453 disease not phenotype-associated VAR_017454 commonName VAR_017454 VAR_017454 disease not phenotype-associated VAR_017455 commonName VAR_017455 VAR_017456 commonName VAR_017456 VAR_017456 disease not phenotype-associated VAR_017457 commonName VAR_017457 VAR_017457 disease not phenotype-associated VAR_017458 commonName VAR_017458 VAR_017458 disease not phenotype-associated VAR_017462 commonName VAR_017462 VAR_017462 disease phenotype-associated VAR_017462 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_017463 commonName VAR_017463 VAR_017464 commonName VAR_017464 VAR_017465 commonName VAR_017465 VAR_017465 disease phenotype-associated VAR_017465 phenoCommon Alexander disease (ALEXD) [MIM:203450] VAR_017466 commonName VAR_017466 VAR_017466 disease phenotype-associated VAR_017466 phenoCommon Alexander disease (ALEXD) [MIM:203450] VAR_017467 commonName VAR_017467 VAR_017467 disease phenotype-associated VAR_017467 phenoCommon Alexander disease (ALEXD) [MIM:203450] VAR_017468 commonName VAR_017468 VAR_017468 disease phenotype-associated VAR_017468 phenoCommon Alexander disease (ALEXD) [MIM:203450] VAR_017469 commonName VAR_017469 VAR_017469 disease phenotype-associated VAR_017469 phenoCommon Alexander disease (ALEXD) [MIM:203450] VAR_017470 commonName VAR_017470 VAR_017470 disease phenotype-associated VAR_017470 phenoCommon Alexander disease (ALEXD) [MIM:203450] VAR_017471 commonName VAR_017471 VAR_017471 disease phenotype-associated VAR_017471 phenoCommon Alexander disease (ALEXD) [MIM:203450] VAR_017472 commonName VAR_017472 VAR_017472 disease phenotype-associated VAR_017472 phenoCommon Alexander disease (ALEXD) [MIM:203450] VAR_017473 commonName VAR_017473 VAR_017473 disease phenotype-associated VAR_017473 phenoCommon Alexander disease (ALEXD) [MIM:203450] VAR_017474 commonName VAR_017474 VAR_017474 disease phenotype-associated VAR_017474 phenoCommon Alexander disease (ALEXD) [MIM:203450] VAR_017475 commonName VAR_017475 VAR_017475 disease phenotype-associated VAR_017475 phenoCommon Alexander disease (ALEXD) [MIM:203450] VAR_017476 commonName VAR_017476 VAR_017476 disease phenotype-associated VAR_017476 phenoCommon Alexander disease (ALEXD) [MIM:203450] VAR_017477 commonName VAR_017477 VAR_017477 disease phenotype-associated VAR_017477 phenoCommon Alexander disease (ALEXD) [MIM:203450] VAR_017478 commonName VAR_017478 VAR_017478 disease phenotype-associated VAR_017478 phenoCommon Alexander disease (ALEXD) [MIM:203450] VAR_017479 commonName VAR_017479 VAR_017479 disease not phenotype-associated VAR_017480 commonName VAR_017480 VAR_017480 disease not phenotype-associated VAR_017481 commonName VAR_017481 VAR_017481 disease not phenotype-associated VAR_017482 commonName VAR_017482 VAR_017482 disease phenotype-associated VAR_017482 phenoCommon Refsum disease (RD) [MIM:266500] VAR_017483 commonName VAR_017483 VAR_017483 disease phenotype-associated VAR_017483 phenoCommon Refsum disease (RD) [MIM:266500] VAR_017484 commonName VAR_017484 VAR_017484 disease phenotype-associated VAR_017484 phenoCommon Refsum disease (RD) [MIM:266500] VAR_017485 commonName VAR_017485 VAR_017485 disease phenotype-associated VAR_017485 phenoCommon Refsum disease (RD) [MIM:266500] VAR_017486 commonName VAR_017486 VAR_017486 disease phenotype-associated VAR_017486 phenoCommon Refsum disease (RD) [MIM:266500] VAR_017487 commonName VAR_017487 VAR_017487 disease phenotype-associated VAR_017487 phenoCommon Refsum disease (RD) [MIM:266500] VAR_017488 commonName VAR_017488 VAR_017488 disease phenotype-associated VAR_017488 phenoCommon Refsum disease (RD) [MIM:266500] VAR_017489 commonName VAR_017489 VAR_017489 disease phenotype-associated VAR_017489 phenoCommon Refsum disease (RD) [MIM:266500] VAR_017490 commonName VAR_017490 VAR_017490 disease phenotype-associated VAR_017490 phenoCommon Refsum disease (RD) [MIM:266500] VAR_017495 commonName VAR_017495 VAR_017495 disease phenotype-associated VAR_017495 phenoCommon Fanconi anemia complementation group G (FANCG) [MIM:614082] VAR_017496 commonName VAR_017496 VAR_017496 disease not phenotype-associated VAR_017497 commonName VAR_017497 VAR_017497 disease phenotype-associated VAR_017497 phenoCommon Fanconi anemia (FA) [MIM:227650] VAR_017498 commonName VAR_017498 VAR_017498 disease phenotype-associated VAR_017498 phenoCommon Fanconi anemia (FA) [MIM:227650] VAR_017499 commonName VAR_017499 VAR_017499 disease phenotype-associated VAR_017499 phenoCommon Fanconi anemia (FA) [MIM:227650] VAR_017500 commonName VAR_017500 VAR_017500 disease phenotype-associated VAR_017500 phenoCommon Fanconi anemia (FA) [MIM:227650] VAR_017501 commonName VAR_017501 VAR_017501 disease phenotype-associated VAR_017501 phenoCommon Fanconi anemia (FA) [MIM:227650] VAR_017502 commonName VAR_017502 VAR_017502 disease phenotype-associated VAR_017502 phenoCommon Fanconi anemia (FA) [MIM:227650] VAR_017503 commonName VAR_017503 VAR_017503 disease phenotype-associated VAR_017503 phenoCommon Fanconi anemia (FA) [MIM:227650] VAR_017504 commonName VAR_017504 VAR_017504 disease phenotype-associated VAR_017504 phenoCommon Fanconi anemia (FA) [MIM:227650] VAR_017505 commonName VAR_017505 VAR_017505 disease phenotype-associated VAR_017505 phenoCommon Fanconi anemia (FA) [MIM:227650] VAR_017508 commonName VAR_017508 VAR_017508 disease not phenotype-associated VAR_017509 commonName VAR_017509 VAR_017509 disease not phenotype-associated VAR_017510 commonName VAR_017510 VAR_017510 disease phenotype-associated VAR_017510 phenoCommon Sjoegren-Larsson syndrome (SLS) [MIM:270200] VAR_017511 commonName VAR_017511 VAR_017511 disease phenotype-associated VAR_017511 phenoCommon Sjoegren-Larsson syndrome (SLS) [MIM:270200] VAR_017512 commonName VAR_017512 VAR_017512 disease phenotype-associated VAR_017512 phenoCommon Sjoegren-Larsson syndrome (SLS) [MIM:270200] VAR_017513 commonName VAR_017513 VAR_017513 disease phenotype-associated VAR_017513 phenoCommon Sjoegren-Larsson syndrome (SLS) [MIM:270200] VAR_017514 commonName VAR_017514 VAR_017514 disease phenotype-associated VAR_017514 phenoCommon Sjoegren-Larsson syndrome (SLS) [MIM:270200] VAR_017515 commonName VAR_017515 VAR_017515 disease phenotype-associated VAR_017515 phenoCommon Sjoegren-Larsson syndrome (SLS) [MIM:270200] VAR_017516 commonName VAR_017516 VAR_017516 disease phenotype-associated VAR_017516 phenoCommon Sjoegren-Larsson syndrome (SLS) [MIM:270200] VAR_017517 commonName VAR_017517 VAR_017517 disease phenotype-associated VAR_017517 phenoCommon Sjoegren-Larsson syndrome (SLS) [MIM:270200] VAR_017518 commonName VAR_017518 VAR_017518 disease phenotype-associated VAR_017518 phenoCommon Sjoegren-Larsson syndrome (SLS) [MIM:270200] VAR_017519 commonName VAR_017519 VAR_017519 disease phenotype-associated VAR_017519 phenoCommon Sjoegren-Larsson syndrome (SLS) [MIM:270200] VAR_017520 commonName VAR_017520 VAR_017520 disease phenotype-associated VAR_017520 phenoCommon Sjoegren-Larsson syndrome (SLS) [MIM:270200] VAR_017529 commonName VAR_017529 VAR_017529 disease phenotype-associated VAR_017529 phenoCommon High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091] VAR_017530 commonName VAR_017530 VAR_017530 disease phenotype-associated VAR_017530 phenoCommon High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091] VAR_017531 commonName VAR_017531 VAR_017531 disease phenotype-associated VAR_017531 phenoCommon Nocturnal frontal lobe epilepsy type 1 (ENFL1) [MIM:600513] VAR_017532 commonName VAR_017532 VAR_017532 disease phenotype-associated VAR_017532 phenoCommon Acrokeratosis verruciformis (AKV) [MIM:101900] VAR_017533 commonName VAR_017533 VAR_017533 disease phenotype-associated VAR_017533 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500] VAR_017534 commonName VAR_017534 VAR_017534 disease phenotype-associated VAR_017534 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500] VAR_017535 commonName VAR_017535 VAR_017535 disease phenotype-associated VAR_017535 phenoCommon Waardenburg syndrome type 3 (WS3) [MIM:148820] VAR_017536 commonName VAR_017536 VAR_017536 disease phenotype-associated VAR_017536 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500] VAR_017537 commonName VAR_017537 VAR_017537 disease phenotype-associated VAR_017537 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500] VAR_017538 commonName VAR_017538 VAR_017538 disease phenotype-associated VAR_017538 phenoCommon Waardenburg syndrome type 1 (WS1) [MIM:193500] VAR_017539 commonName VAR_017539 VAR_017540 commonName VAR_017540 VAR_017541 commonName VAR_017541 VAR_017541 disease phenotype-associated VAR_017541 phenoCommon Foveal hypoplasia (FOVHYP) [MIM:136520] VAR_017542 commonName VAR_017542 VAR_017542 disease phenotype-associated VAR_017542 phenoCommon Coloboma of iris choroid and retina (COI) [MIM:120200] VAR_017543 commonName VAR_017543 VAR_017543 disease phenotype-associated VAR_017543 phenoCommon Bilateral optic nerve hypoplasia (BONH) [MIM:165550] VAR_017544 commonName VAR_017544 VAR_017544 disease phenotype-associated VAR_017544 phenoCommon Peters anomaly (PAN) [MIM:604229] VAR_017545 commonName VAR_017545 VAR_017546 commonName VAR_017546 VAR_017546 disease phenotype-associated VAR_017546 phenoCommon Bilateral optic nerve hypoplasia (BONH) [MIM:165550] VAR_017547 commonName VAR_017547 VAR_017547 disease phenotype-associated VAR_017547 phenoCommon Bilateral optic nerve hypoplasia (BONH) [MIM:165550] VAR_017550 comment Mismatch repair deficient cancer cells VAR_017550 commonName VAR_017550 VAR_017551 commonName VAR_017551 VAR_017551 disease phenotype-associated VAR_017551 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_017552 commonName VAR_017552 VAR_017552 disease not phenotype-associated VAR_017553 commonName VAR_017553 VAR_017553 disease phenotype-associated VAR_017553 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_017554 comment Mismatch repair deficient cancer cells VAR_017554 commonName VAR_017554 VAR_017555 commonName VAR_017555 VAR_017555 disease phenotype-associated VAR_017555 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_017556 commonName VAR_017556 VAR_017556 disease phenotype-associated VAR_017556 phenoCommon Chondrocalcinosis 2 (CCAL2) [MIM:118600] VAR_017558 commonName VAR_017558 VAR_017558 disease phenotype-associated VAR_017558 phenoCommon Cataract, zonular (CZ) [MIM:116800] VAR_017559 commonName VAR_017559 VAR_017559 disease phenotype-associated VAR_017559 phenoCommon Cataract, zonular (CZ) [MIM:116800] VAR_017560 commonName VAR_017560 VAR_017560 disease phenotype-associated VAR_017560 phenoCommon Cataract, zonular (CZ) [MIM:116800] VAR_017561 commonName VAR_017561 VAR_017561 disease phenotype-associated VAR_017561 phenoCommon Cataract Marner type (CAM) [MIM:116800] VAR_017562 commonName VAR_017562 VAR_017562 disease phenotype-associated VAR_017562 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_017563 commonName VAR_017563 VAR_017563 disease phenotype-associated VAR_017563 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_017564 commonName VAR_017564 VAR_017564 disease phenotype-associated VAR_017564 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_017565 commonName VAR_017565 VAR_017565 disease phenotype-associated VAR_017565 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_017570 commonName VAR_017570 VAR_017570 disease not phenotype-associated VAR_017571 commonName VAR_017571 VAR_017571 disease not phenotype-associated VAR_017572 commonName VAR_017572 VAR_017572 disease phenotype-associated VAR_017572 phenoCommon Arginosuccinic aciduria (ARGINSA) [MIM:207900] VAR_017573 commonName VAR_017573 VAR_017573 disease phenotype-associated VAR_017573 phenoCommon Arginosuccinic aciduria (ARGINSA) [MIM:207900] VAR_017574 commonName VAR_017574 VAR_017574 disease phenotype-associated VAR_017574 phenoCommon Arginosuccinic aciduria (ARGINSA) [MIM:207900] VAR_017575 commonName VAR_017575 VAR_017575 disease not phenotype-associated VAR_017576 commonName VAR_017576 VAR_017576 disease not phenotype-associated VAR_017577 commonName VAR_017577 VAR_017577 disease phenotype-associated VAR_017577 phenoCommon Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950] VAR_017578 commonName VAR_017578 VAR_017578 disease phenotype-associated VAR_017578 phenoCommon Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950] VAR_017580 commonName VAR_017580 VAR_017580 disease not phenotype-associated VAR_017581 commonName VAR_017581 VAR_017581 disease phenotype-associated VAR_017581 phenoCommon Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055] VAR_017582 comment A patient with non small cell lung carcinomas VAR_017582 commonName VAR_017582 VAR_017583 comment A patient with non small cell lung carcinomas VAR_017583 commonName VAR_017583 VAR_017584 commonName VAR_017584 VAR_017584 disease not phenotype-associated VAR_017585 commonName VAR_017585 VAR_017585 disease not phenotype-associated VAR_017586 comment A patient with non small cell lung carcinomas VAR_017586 commonName VAR_017586 VAR_017587 commonName VAR_017587 VAR_017587 disease not phenotype-associated VAR_017588 commonName VAR_017588 VAR_017588 disease phenotype-associated VAR_017588 phenoCommon Pseudohypoaldosteronism type 2B (PHA2B) [MIM:614491] VAR_017589 commonName VAR_017589 VAR_017589 disease phenotype-associated VAR_017589 phenoCommon Pseudohypoaldosteronism type 2B (PHA2B) [MIM:614491] VAR_017590 commonName VAR_017590 VAR_017590 disease phenotype-associated VAR_017590 phenoCommon Pseudohypoaldosteronism type 2B (PHA2B) [MIM:614491] VAR_017592 commonName VAR_017592 VAR_017592 disease not phenotype-associated VAR_017593 commonName VAR_017593 VAR_017593 disease not phenotype-associated VAR_017594 commonName VAR_017594 VAR_017594 disease not phenotype-associated VAR_017595 commonName VAR_017595 VAR_017595 disease not phenotype-associated VAR_017596 commonName VAR_017596 VAR_017596 disease phenotype-associated VAR_017596 phenoCommon Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650] VAR_017597 commonName VAR_017597 VAR_017597 disease not phenotype-associated VAR_017598 commonName VAR_017598 VAR_017598 disease phenotype-associated VAR_017598 phenoCommon Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650] VAR_017599 commonName VAR_017599 VAR_017599 disease phenotype-associated VAR_017599 phenoCommon Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650] VAR_017600 commonName VAR_017600 VAR_017600 disease not phenotype-associated VAR_017601 commonName VAR_017601 VAR_017601 disease phenotype-associated VAR_017601 phenoCommon Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650] VAR_017602 commonName VAR_017602 VAR_017602 disease not phenotype-associated VAR_017603 commonName VAR_017603 VAR_017603 disease not phenotype-associated VAR_017604 commonName VAR_017604 VAR_017604 disease phenotype-associated VAR_017604 phenoCommon Dyschromatosis symmetrical hereditaria (DSH) [MIM:127400] VAR_017606 commonName VAR_017606 VAR_017606 disease not phenotype-associated VAR_017607 commonName VAR_017607 VAR_017607 disease phenotype-associated VAR_017607 phenoCommon Camurati-Engelmann disease (CE) [MIM:131300] VAR_017608 commonName VAR_017608 VAR_017608 disease phenotype-associated VAR_017608 phenoCommon Camurati-Engelmann disease (CE) [MIM:131300] VAR_017609 commonName VAR_017609 VAR_017609 disease phenotype-associated VAR_017609 phenoCommon Camurati-Engelmann disease (CE) [MIM:131300] VAR_017610 commonName VAR_017610 VAR_017610 disease phenotype-associated VAR_017610 phenoCommon Camurati-Engelmann disease (CE) [MIM:131300] VAR_017611 commonName VAR_017611 VAR_017611 disease phenotype-associated VAR_017611 phenoCommon Camurati-Engelmann disease (CE) [MIM:131300] VAR_017612 comment Hepatocellular carcinoma VAR_017612 commonName VAR_017612 VAR_017614 comment Hepatocellular carcinoma VAR_017614 commonName VAR_017614 VAR_017615 commonName VAR_017615 VAR_017615 disease phenotype-associated VAR_017615 phenoCommon Pilomatrixoma (PTR) [MIM:132600] VAR_017616 commonName VAR_017616 VAR_017616 disease phenotype-associated VAR_017616 phenoCommon Pilomatrixoma (PTR) [MIM:132600] VAR_017617 commonName VAR_017617 VAR_017617 disease phenotype-associated VAR_017617 phenoCommon Medulloblastoma (MDB) [MIM:155255] VAR_017617 phenoCommon Pilomatrixoma (PTR) [MIM:132600] VAR_017618 comment Hepatocellular carcinoma VAR_017618 commonName VAR_017618 VAR_017619 commonName VAR_017619 VAR_017619 disease phenotype-associated VAR_017619 phenoCommon Colorectal cancer (CRC) [MIM:114500] VAR_017619 phenoCommon Pilomatrixoma (PTR) [MIM:132600] VAR_017620 commonName VAR_017620 VAR_017620 disease phenotype-associated VAR_017620 phenoCommon Pilomatrixoma (PTR) [MIM:132600] VAR_017621 comment Hepatocellular carcinoma VAR_017621 commonName VAR_017621 VAR_017622 commonName VAR_017622 VAR_017622 disease not phenotype-associated VAR_017623 comment Hepatocellular carcinoma VAR_017623 commonName VAR_017623 VAR_017624 commonName VAR_017624 VAR_017624 disease phenotype-associated VAR_017624 phenoCommon Medulloblastoma (MDB) [MIM:155255] VAR_017625 commonName VAR_017625 VAR_017625 disease phenotype-associated VAR_017625 phenoCommon Ovarian cancer (OC) [MIM:167000] VAR_017625 phenoCommon Pilomatrixoma (PTR) [MIM:132600] VAR_017626 commonName VAR_017626 VAR_017626 disease phenotype-associated VAR_017626 phenoCommon Pilomatrixoma (PTR) [MIM:132600] VAR_017627 comment Hepatocellular carcinoma VAR_017627 commonName VAR_017627 VAR_017629 comment Hepatocellular carcinoma VAR_017629 commonName VAR_017629 VAR_017630 commonName VAR_017630 VAR_017630 disease phenotype-associated VAR_017630 phenoCommon Ovarian cancer (OC) [MIM:167000] VAR_017630 phenoCommon Pilomatrixoma (PTR) [MIM:132600] VAR_017631 comment Hepatocellular carcinoma VAR_017631 commonName VAR_017631 VAR_017632 comment Hepatocellular carcinoma VAR_017632 commonName VAR_017632 VAR_017633 commonName VAR_017633 VAR_017633 disease phenotype-associated VAR_017633 phenoCommon Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900] VAR_017634 commonName VAR_017634 VAR_017634 disease phenotype-associated VAR_017634 phenoCommon Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900] VAR_017635 commonName VAR_017635 VAR_017635 disease phenotype-associated VAR_017635 phenoCommon Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900] VAR_017636 commonName VAR_017636 VAR_017636 disease phenotype-associated VAR_017636 phenoCommon Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900] VAR_017637 commonName VAR_017637 VAR_017637 disease phenotype-associated VAR_017637 phenoCommon Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900] VAR_017638 commonName VAR_017638 VAR_017638 disease not phenotype-associated VAR_017639 commonName VAR_017639 VAR_017639 disease phenotype-associated VAR_017639 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610] VAR_017640 commonName VAR_017640 VAR_017640 disease phenotype-associated VAR_017640 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610] VAR_017641 commonName VAR_017641 VAR_017641 disease phenotype-associated VAR_017641 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610] VAR_017642 commonName VAR_017642 VAR_017642 disease phenotype-associated VAR_017642 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610] VAR_017643 commonName VAR_017643 VAR_017643 disease phenotype-associated VAR_017643 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610] VAR_017644 commonName VAR_017644 VAR_017644 disease phenotype-associated VAR_017644 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610] VAR_017645 commonName VAR_017645 VAR_017645 disease phenotype-associated VAR_017645 phenoCommon Multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD) [MIM:132450] VAR_017645 phenoCommon Stickler syndrome type 1 (STL1) [MIM:108300] VAR_017646 commonName VAR_017646 VAR_017646 disease phenotype-associated VAR_017646 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610] VAR_017647 commonName VAR_017647 VAR_017647 disease phenotype-associated VAR_017647 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610] VAR_017649 commonName VAR_017649 VAR_017649 disease phenotype-associated VAR_017649 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610] VAR_017650 commonName VAR_017650 VAR_017650 disease phenotype-associated VAR_017650 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610] VAR_017651 commonName VAR_017651 VAR_017651 disease phenotype-associated VAR_017651 phenoCommon Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] VAR_017652 commonName VAR_017652 VAR_017652 disease not phenotype-associated VAR_017653 commonName VAR_017653 VAR_017653 disease phenotype-associated VAR_017653 phenoCommon Medulloblastoma (MDB) [MIM:155255] VAR_017654 commonName VAR_017654 VAR_017654 disease phenotype-associated VAR_017654 phenoCommon Medulloblastoma (MDB) [MIM:155255] VAR_017655 commonName VAR_017655 VAR_017655 disease phenotype-associated VAR_017655 phenoCommon Medulloblastoma (MDB) [MIM:155255] VAR_017656 commonName VAR_017656 VAR_017656 disease phenotype-associated VAR_017656 phenoCommon Cardiomyopathy dilated with hypergonadotropic hypogonadism (CMDHH) [MIM:212112] VAR_017657 commonName VAR_017657 VAR_017657 disease phenotype-associated VAR_017657 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_017658 commonName VAR_017658 VAR_017658 disease phenotype-associated VAR_017658 phenoCommon Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] VAR_017659 commonName VAR_017659 VAR_017659 disease phenotype-associated VAR_017659 phenoCommon Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] VAR_017660 commonName VAR_017660 VAR_017660 disease phenotype-associated VAR_017660 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] VAR_017661 commonName VAR_017661 VAR_017661 disease phenotype-associated VAR_017661 phenoCommon Charcot-Marie-Tooth disease type 2B1 (CMT2B1) [MIM:605588] VAR_017662 commonName VAR_017662 VAR_017662 disease phenotype-associated VAR_017662 phenoCommon Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] VAR_017663 commonName VAR_017663 VAR_017663 disease phenotype-associated VAR_017663 phenoCommon Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] VAR_017664 commonName VAR_017664 VAR_017664 disease phenotype-associated VAR_017664 phenoCommon Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] VAR_017665 commonName VAR_017665 VAR_017665 disease phenotype-associated VAR_017665 phenoCommon Non-insulin-dependent diabetes mellitus (NIDDM) [MIM:125853] VAR_017666 commonName VAR_017666 VAR_017666 disease phenotype-associated VAR_017666 phenoCommon Medullary cystic kidney disease type 2 (MCKD2) [MIM:603860] VAR_017667 commonName VAR_017667 VAR_017667 disease phenotype-associated VAR_017667 phenoCommon Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000] VAR_017668 commonName VAR_017668 VAR_017668 disease phenotype-associated VAR_017668 phenoCommon Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000] VAR_017669 commonName VAR_017669 VAR_017669 disease phenotype-associated VAR_017669 phenoCommon Familial spinal neurofibromatosis (FSNF) [MIM:162210] VAR_017670 commonName VAR_017670 VAR_017670 disease phenotype-associated VAR_017670 phenoCommon Sick sinus syndrome type 1 (SSS1) [MIM:608567] VAR_017671 commonName VAR_017671 VAR_017671 disease phenotype-associated VAR_017671 phenoCommon Progressive familial heart block type 1A (PFHB1A) [MIM:113900] VAR_017672 commonName VAR_017672 VAR_017672 disease phenotype-associated VAR_017672 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_017673 commonName VAR_017673 VAR_017673 disease phenotype-associated VAR_017673 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_017673 phenoCommon Progressive familial heart block type 1A (PFHB1A) [MIM:113900] VAR_017674 commonName VAR_017674 VAR_017674 disease phenotype-associated VAR_017674 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_017674 phenoCommon Sick sinus syndrome type 1 (SSS1) [MIM:608567] VAR_017675 commonName VAR_017675 VAR_017675 disease phenotype-associated VAR_017675 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_017676 commonName VAR_017676 VAR_017676 disease phenotype-associated VAR_017676 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_017677 commonName VAR_017677 VAR_017677 disease not phenotype-associated VAR_017678 commonName VAR_017678 VAR_017678 disease phenotype-associated VAR_017678 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_017678 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_017679 commonName VAR_017679 VAR_017679 disease phenotype-associated VAR_017679 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_017679 phenoCommon Progressive familial heart block type 1A (PFHB1A) [MIM:113900] VAR_017680 commonName VAR_017680 VAR_017680 disease phenotype-associated VAR_017680 phenoCommon Sick sinus syndrome type 1 (SSS1) [MIM:608567] VAR_017681 commonName VAR_017681 VAR_017681 disease phenotype-associated VAR_017681 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_017681 phenoCommon Sick sinus syndrome type 1 (SSS1) [MIM:608567] VAR_017682 commonName VAR_017682 VAR_017682 disease phenotype-associated VAR_017682 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_017683 commonName VAR_017683 VAR_017683 disease phenotype-associated VAR_017683 phenoCommon Progressive familial heart block type 1A (PFHB1A) [MIM:113900] VAR_017684 commonName VAR_017684 VAR_017684 disease phenotype-associated VAR_017684 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_017685 commonName VAR_017685 VAR_017685 disease phenotype-associated VAR_017685 phenoCommon Familial paroxysmal ventricular fibrillation type 1 (VF1) [MIM:603829] VAR_017687 commonName VAR_017687 VAR_017687 disease phenotype-associated VAR_017687 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_017688 commonName VAR_017688 VAR_017688 disease phenotype-associated VAR_017688 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_017689 commonName VAR_017689 VAR_017689 disease not phenotype-associated VAR_017690 commonName VAR_017690 VAR_017690 disease not phenotype-associated VAR_017691 commonName VAR_017691 VAR_017691 disease not phenotype-associated VAR_017692 commonName VAR_017692 VAR_017692 disease not phenotype-associated VAR_017693 commonName VAR_017693 VAR_017693 disease not phenotype-associated VAR_017694 commonName VAR_017694 VAR_017694 disease not phenotype-associated VAR_017695 commonName VAR_017695 VAR_017695 disease not phenotype-associated VAR_017696 commonName VAR_017696 VAR_017696 disease not phenotype-associated VAR_017697 commonName VAR_017697 VAR_017697 disease not phenotype-associated VAR_017739 commonName VAR_017739 VAR_017739 disease not phenotype-associated VAR_017744 commonName VAR_017744 VAR_017744 disease phenotype-associated VAR_017744 phenoCommon Capillary malformation-arteriovenous malformation (CMAVM) [MIM:608354] VAR_017745 commonName VAR_017745 VAR_017745 disease not phenotype-associated VAR_017746 commonName VAR_017746 VAR_017746 disease phenotype-associated VAR_017746 phenoCommon Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426] VAR_017747 commonName VAR_017747 VAR_017747 disease phenotype-associated VAR_017747 phenoCommon Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426] VAR_017748 commonName VAR_017748 VAR_017748 disease phenotype-associated VAR_017748 phenoCommon Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426] VAR_017749 commonName VAR_017749 VAR_017749 disease phenotype-associated VAR_017749 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_017750 commonName VAR_017750 VAR_017750 disease phenotype-associated VAR_017750 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_017751 commonName VAR_017751 VAR_017751 disease phenotype-associated VAR_017751 phenoCommon Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426] VAR_017753 commonName VAR_017753 VAR_017753 disease not phenotype-associated VAR_017754 commonName VAR_017754 VAR_017754 disease phenotype-associated VAR_017754 phenoCommon Myopathy myosin storage (MYOMS) [MIM:608358] VAR_017754 phenoCommon Scapuloperoneal myopathy MYH7-related (SPMM) [MIM:181430] VAR_017755 commonName VAR_017755 VAR_017755 disease not phenotype-associated VAR_017756 commonName VAR_017756 VAR_017756 disease not phenotype-associated VAR_017757 commonName VAR_017757 VAR_017757 disease not phenotype-associated VAR_017758 commonName VAR_017758 VAR_017758 disease not phenotype-associated VAR_017759 commonName VAR_017759 VAR_017759 disease phenotype-associated VAR_017759 phenoCommon Cohen syndrome (COH1) [MIM:216550] VAR_017760 commonName VAR_017760 VAR_017760 disease not phenotype-associated VAR_017775 commonName VAR_017775 VAR_017775 disease phenotype-associated VAR_017775 phenoCommon Guttmacher syndrome (GUTTS) [MIM:176305] VAR_017776 commonName VAR_017776 VAR_017776 disease phenotype-associated VAR_017776 phenoCommon Hand-foot-genital syndrome (HFGS) [MIM:140000] VAR_017778 commonName VAR_017778 VAR_017778 disease not phenotype-associated VAR_017779 commonName VAR_017779 VAR_017779 disease not phenotype-associated VAR_017780 commonName VAR_017780 VAR_017780 disease not phenotype-associated VAR_017781 commonName VAR_017781 VAR_017785 commonName VAR_017785 VAR_017785 disease not phenotype-associated VAR_017786 commonName VAR_017786 VAR_017786 disease phenotype-associated VAR_017786 phenoCommon Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] VAR_017787 commonName VAR_017787 VAR_017787 disease not phenotype-associated VAR_017788 commonName VAR_017788 VAR_017788 disease phenotype-associated VAR_017788 phenoCommon Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345] VAR_017789 commonName VAR_017789 VAR_017789 disease phenotype-associated VAR_017789 phenoCommon Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345] VAR_017790 commonName VAR_017790 VAR_017790 disease phenotype-associated VAR_017790 phenoCommon Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345] VAR_017791 commonName VAR_017791 VAR_017791 disease phenotype-associated VAR_017791 phenoCommon Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345] VAR_017792 commonName VAR_017792 VAR_017792 disease phenotype-associated VAR_017792 phenoCommon Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345] VAR_017793 commonName VAR_017793 VAR_017793 disease phenotype-associated VAR_017793 phenoCommon Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] VAR_017794 commonName VAR_017794 VAR_017794 disease not phenotype-associated VAR_017795 commonName VAR_017795 VAR_017795 disease phenotype-associated VAR_017795 phenoCommon A congenital myasthenic syndrome acetazolamide-responsive (CMSAR) [MIM:614198] VAR_017796 commonName VAR_017796 VAR_017796 disease not phenotype-associated VAR_017797 commonName VAR_017797 VAR_017797 disease not phenotype-associated VAR_017801 commonName VAR_017801 VAR_017801 disease not phenotype-associated VAR_017802 commonName VAR_017802 VAR_017802 disease not phenotype-associated VAR_017803 commonName VAR_017803 VAR_017803 disease not phenotype-associated VAR_017804 commonName VAR_017804 VAR_017804 disease not phenotype-associated VAR_017805 commonName VAR_017805 VAR_017805 disease not phenotype-associated VAR_017806 commonName VAR_017806 VAR_017806 disease not phenotype-associated VAR_017807 commonName VAR_017807 VAR_017807 disease not phenotype-associated VAR_017808 commonName VAR_017808 VAR_017808 disease not phenotype-associated VAR_017809 commonName VAR_017809 VAR_017809 disease not phenotype-associated VAR_017810 commonName VAR_017810 VAR_017810 disease not phenotype-associated VAR_017811 commonName VAR_017811 VAR_017811 disease not phenotype-associated VAR_017812 commonName VAR_017812 VAR_017812 disease not phenotype-associated VAR_017813 commonName VAR_017813 VAR_017813 disease not phenotype-associated VAR_017814 commonName VAR_017814 VAR_017814 disease not phenotype-associated VAR_017815 comment A acute lymphoblastic leukemia cell line VAR_017815 commonName VAR_017815 VAR_017816 comment An ovarian cancer cell line VAR_017816 commonName VAR_017816 VAR_017817 commonName VAR_017817 VAR_017817 disease not phenotype-associated VAR_017818 commonName VAR_017818 VAR_017818 disease phenotype-associated VAR_017818 phenoCommon Hypoparathyroidism with sensorineural deafness and renal dysplasia (HDR) [MIM:146255] VAR_017819 commonName VAR_017819 VAR_017819 disease phenotype-associated VAR_017819 phenoCommon Palmoplantar keratoderma non-epidermolytic (NEPPK) [MIM:600962] VAR_017820 commonName VAR_017820 VAR_017820 disease phenotype-associated VAR_017820 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800] VAR_017821 commonName VAR_017821 VAR_017821 disease phenotype-associated VAR_017821 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800] VAR_017822 commonName VAR_017822 VAR_017822 disease phenotype-associated VAR_017822 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800] VAR_017823 commonName VAR_017823 VAR_017823 disease phenotype-associated VAR_017823 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800] VAR_017824 commonName VAR_017824 VAR_017824 disease phenotype-associated VAR_017824 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800] VAR_017825 commonName VAR_017825 VAR_017825 disease phenotype-associated VAR_017825 phenoCommon Ichthyosis annular epidermolytic (AEI) [MIM:607602] VAR_017826 commonName VAR_017826 VAR_017826 disease phenotype-associated VAR_017826 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800] VAR_017826 phenoCommon Ichthyosis annular epidermolytic (AEI) [MIM:607602] VAR_017827 commonName VAR_017827 VAR_017827 disease phenotype-associated VAR_017827 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800] VAR_017828 commonName VAR_017828 VAR_017828 disease phenotype-associated VAR_017828 phenoCommon Epidermolytic hyperkeratosis (EHK) [MIM:113800] VAR_017829 commonName VAR_017829 VAR_017829 disease phenotype-associated VAR_017829 phenoCommon Ichthyosis bullosa of Siemens (IBS) [MIM:146800] VAR_017830 commonName VAR_017830 VAR_017830 disease not phenotype-associated VAR_017831 commonName VAR_017831 VAR_017831 disease phenotype-associated VAR_017831 phenoCommon Cone-rod dystrophy type 13 (CORD13) [MIM:608194] VAR_017832 commonName VAR_017832 VAR_017832 disease not phenotype-associated VAR_017833 commonName VAR_017833 VAR_017833 disease phenotype-associated VAR_017833 phenoCommon Leber congenital amaurosis type 6 (LCA6) [MIM:613826] VAR_017837 commonName VAR_017837 VAR_017837 disease not phenotype-associated VAR_017838 commonName VAR_017838 VAR_017838 disease phenotype-associated VAR_017838 phenoCommon Osteopetrosis autosomal dominant type 2 (OPTA2) [MIM:166600] VAR_017838 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] VAR_017839 commonName VAR_017839 VAR_017839 disease phenotype-associated VAR_017839 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] VAR_017840 commonName VAR_017840 VAR_017840 disease phenotype-associated VAR_017840 phenoCommon Osteopetrosis autosomal dominant type 2 (OPTA2) [MIM:166600] VAR_017840 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] VAR_017841 commonName VAR_017841 VAR_017841 disease phenotype-associated VAR_017841 phenoCommon Pelger-Huet anomaly (PHA) [MIM:169400] VAR_017842 commonName VAR_017842 VAR_017842 disease phenotype-associated VAR_017842 phenoCommon Pelger-Huet anomaly (PHA) [MIM:169400] VAR_017843 commonName VAR_017843 VAR_017843 disease phenotype-associated VAR_017843 phenoCommon Albright hereditary osteodystrophy (AHO) [MIM:103580] VAR_017844 commonName VAR_017844 VAR_017844 disease phenotype-associated VAR_017844 phenoCommon McCune-Albright syndrome (MAS) [MIM:174800] VAR_017845 comment Non-MAS endocrine tumors VAR_017845 commonName VAR_017845 VAR_017846 commonName VAR_017846 VAR_017846 disease phenotype-associated VAR_017846 phenoCommon ACTH-independent macronodular adrenal hyperplasia (AIMAH) [MIM:219080] VAR_017847 commonName VAR_017847 VAR_017848 commonName VAR_017848 VAR_017848 disease phenotype-associated VAR_017848 phenoCommon Albright hereditary osteodystrophy (AHO) [MIM:103580] VAR_017849 commonName VAR_017849 VAR_017849 disease phenotype-associated VAR_017849 phenoCommon Albright hereditary osteodystrophy (AHO) [MIM:103580] VAR_017851 commonName VAR_017851 VAR_017851 disease phenotype-associated VAR_017851 phenoCommon Long QT syndrome type 7 (LQT7) [MIM:170390] VAR_017852 commonName VAR_017852 VAR_017852 disease phenotype-associated VAR_017852 phenoCommon Long QT syndrome type 7 (LQT7) [MIM:170390] VAR_017854 commonName VAR_017854 VAR_017854 disease phenotype-associated VAR_017854 phenoCommon Long QT syndrome type 7 (LQT7) [MIM:170390] VAR_017855 commonName VAR_017855 VAR_017855 disease phenotype-associated VAR_017855 phenoCommon Long QT syndrome type 7 (LQT7) [MIM:170390] VAR_017856 commonName VAR_017856 VAR_017856 disease phenotype-associated VAR_017856 phenoCommon Long QT syndrome type 7 (LQT7) [MIM:170390] VAR_017857 commonName VAR_017857 VAR_017857 disease phenotype-associated VAR_017857 phenoCommon Long QT syndrome type 7 (LQT7) [MIM:170390] VAR_017858 commonName VAR_017858 VAR_017858 disease phenotype-associated VAR_017858 phenoCommon Long QT syndrome type 7 (LQT7) [MIM:170390] VAR_017863 commonName VAR_017863 VAR_017863 disease not phenotype-associated VAR_017864 commonName VAR_017864 VAR_017864 disease not phenotype-associated VAR_017865 commonName VAR_017865 VAR_017865 disease phenotype-associated VAR_017865 phenoCommon Cold-induced sweating syndrome type 1 (CISS1) [MIM:272430] VAR_017866 commonName VAR_017866 VAR_017866 disease phenotype-associated VAR_017866 phenoCommon Cold-induced sweating syndrome type 1 (CISS1) [MIM:272430] VAR_017867 commonName VAR_017867 VAR_017867 disease not phenotype-associated VAR_017868 commonName VAR_017868 VAR_017868 disease phenotype-associated VAR_017868 phenoCommon Paragangliomas type 4 (PGL4) [MIM:115310] VAR_017869 comment Familial malignant paraganglioma and pheochromocytoma VAR_017869 commonName VAR_017869 VAR_017869 disease phenotype-associated VAR_017869 phenoCommon Paragangliomas type 4 (PGL4) [MIM:115310] VAR_017869 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_017870 commonName VAR_017870 VAR_017870 disease not phenotype-associated VAR_017871 commonName VAR_017871 VAR_017871 disease not phenotype-associated VAR_017872 commonName VAR_017872 VAR_017872 disease phenotype-associated VAR_017872 phenoCommon Paragangliomas type 1 (PGL1) [MIM:168000] VAR_017873 commonName VAR_017873 VAR_017873 disease phenotype-associated VAR_017873 phenoCommon Paragangliomas type 1 (PGL1) [MIM:168000] VAR_017874 commonName VAR_017874 VAR_017874 disease phenotype-associated VAR_017874 phenoCommon Currarino syndrome (CURRAS) [MIM:176450] VAR_017875 commonName VAR_017875 VAR_017875 disease phenotype-associated VAR_017875 phenoCommon Currarino syndrome (CURRAS) [MIM:176450] VAR_017876 commonName VAR_017876 VAR_017876 disease phenotype-associated VAR_017876 phenoCommon Currarino syndrome (CURRAS) [MIM:176450] VAR_017883 commonName VAR_017883 VAR_017883 disease phenotype-associated VAR_017883 phenoCommon Solitary median maxillary central incisor (SMMCI) [MIM:147250] VAR_017885 commonName VAR_017885 VAR_017885 disease phenotype-associated VAR_017885 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_017886 commonName VAR_017886 VAR_017886 disease phenotype-associated VAR_017886 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_017887 commonName VAR_017887 VAR_017887 disease phenotype-associated VAR_017887 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_017888 commonName VAR_017888 VAR_017888 disease phenotype-associated VAR_017888 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_017889 commonName VAR_017889 VAR_017889 disease phenotype-associated VAR_017889 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_017890 commonName VAR_017890 VAR_017890 disease phenotype-associated VAR_017890 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_017891 commonName VAR_017891 VAR_017891 disease phenotype-associated VAR_017891 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_017892 commonName VAR_017892 VAR_017892 disease phenotype-associated VAR_017892 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_017893 commonName VAR_017893 VAR_017893 disease not phenotype-associated VAR_017894 commonName VAR_017894 VAR_017894 disease phenotype-associated VAR_017894 phenoCommon Corneal dystrophy Fuchs endothelial type 1 (FECD1) [MIM:136800] VAR_017895 commonName VAR_017895 VAR_017895 disease phenotype-associated VAR_017895 phenoCommon Corneal dystrophy Fuchs endothelial type 1 (FECD1) [MIM:136800] VAR_017896 commonName VAR_017896 VAR_017896 disease phenotype-associated VAR_017896 phenoCommon Corneal dystrophy Fuchs endothelial type 1 (FECD1) [MIM:136800] VAR_017897 commonName VAR_017897 VAR_017897 disease phenotype-associated VAR_017897 phenoCommon Corneal dystrophy Fuchs endothelial type 1 (FECD1) [MIM:136800] VAR_017898 commonName VAR_017898 VAR_017898 disease phenotype-associated VAR_017898 phenoCommon Corneal dystrophy Fuchs endothelial type 1 (FECD1) [MIM:136800] VAR_017898 phenoCommon Posterior polymorphous corneal dystrophy type 2 (PPCD2) [MIM:609140] VAR_017899 commonName VAR_017899 VAR_017899 disease phenotype-associated VAR_017899 phenoCommon Corneal dystrophy Fuchs endothelial type 1 (FECD1) [MIM:136800] VAR_017901 commonName VAR_017901 VAR_017901 disease phenotype-associated VAR_017901 phenoCommon Klippel-Trenaunay syndrome (KTS) [MIM:149000] VAR_017902 commonName VAR_017902 VAR_017902 disease not phenotype-associated VAR_017903 commonName VAR_017903 VAR_017903 disease not phenotype-associated VAR_017904 commonName VAR_017904 VAR_017904 disease phenotype-associated VAR_017904 phenoCommon Congenital disorder of glycosylation type 1G (CDG1G) [MIM:607143] VAR_017905 commonName VAR_017905 VAR_017905 disease phenotype-associated VAR_017905 phenoCommon Congenital disorder of glycosylation type 1G (CDG1G) [MIM:607143] VAR_017906 commonName VAR_017906 VAR_017906 disease phenotype-associated VAR_017906 phenoCommon Congenital disorder of glycosylation type 1G (CDG1G) [MIM:607143] VAR_017907 commonName VAR_017907 VAR_017907 disease phenotype-associated VAR_017907 phenoCommon Congenital disorder of glycosylation type 1G (CDG1G) [MIM:607143] VAR_017908 comment Sporadic cancers VAR_017908 commonName VAR_017908 VAR_017909 comment Sporadic cancers VAR_017909 commonName VAR_017909 VAR_017910 commonName VAR_017910 VAR_017910 disease not phenotype-associated VAR_017911 commonName VAR_017911 VAR_017911 disease not phenotype-associated VAR_017912 commonName VAR_017912 VAR_017912 disease phenotype-associated VAR_017912 phenoCommon Prolonged electroretinal response suppression (PERRS) [MIM:608415] VAR_017913 commonName VAR_017913 VAR_017913 disease phenotype-associated VAR_017913 phenoCommon Platelet glycoprotein IV deficiency (PG4D) [MIM:608404] VAR_017914 commonName VAR_017914 VAR_017915 commonName VAR_017915 VAR_017917 commonName VAR_017917 VAR_017917 disease phenotype-associated VAR_017917 phenoCommon Platelet glycoprotein IV deficiency (PG4D) [MIM:608404] VAR_017918 commonName VAR_017918 VAR_017920 commonName VAR_017920 VAR_017920 disease not phenotype-associated VAR_017921 commonName VAR_017921 VAR_017921 disease not phenotype-associated VAR_017922 commonName VAR_017922 VAR_017922 disease phenotype-associated VAR_017922 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] VAR_017923 commonName VAR_017923 VAR_017923 disease phenotype-associated VAR_017923 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] VAR_017924 commonName VAR_017924 VAR_017924 disease phenotype-associated VAR_017924 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] VAR_017925 commonName VAR_017925 VAR_017925 disease phenotype-associated VAR_017925 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] VAR_017926 commonName VAR_017926 VAR_017926 disease phenotype-associated VAR_017926 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] VAR_017927 commonName VAR_017927 VAR_017927 disease phenotype-associated VAR_017927 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] VAR_017928 commonName VAR_017928 VAR_017928 disease phenotype-associated VAR_017928 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] VAR_017929 commonName VAR_017929 VAR_017929 disease phenotype-associated VAR_017929 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] VAR_017930 commonName VAR_017930 VAR_017930 disease phenotype-associated VAR_017930 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] VAR_017931 commonName VAR_017931 VAR_017931 disease phenotype-associated VAR_017931 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] VAR_017932 commonName VAR_017932 VAR_017932 disease phenotype-associated VAR_017932 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] VAR_017933 commonName VAR_017933 VAR_017933 disease phenotype-associated VAR_017933 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] VAR_017934 commonName VAR_017934 VAR_017934 disease phenotype-associated VAR_017934 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] VAR_017935 commonName VAR_017935 VAR_017935 disease phenotype-associated VAR_017935 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] VAR_017936 commonName VAR_017936 VAR_017936 disease phenotype-associated VAR_017936 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] VAR_017937 commonName VAR_017937 VAR_017937 disease phenotype-associated VAR_017937 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] VAR_017938 commonName VAR_017938 VAR_017938 disease phenotype-associated VAR_017938 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] VAR_017939 commonName VAR_017939 VAR_017939 disease phenotype-associated VAR_017939 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] VAR_017940 commonName VAR_017940 VAR_017940 disease phenotype-associated VAR_017940 phenoCommon X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230] VAR_017941 commonName VAR_017941 VAR_017941 disease not phenotype-associated VAR_017942 commonName VAR_017942 VAR_017942 disease phenotype-associated VAR_017942 phenoCommon Tetralogy of Fallot (TOF) [MIM:187500] VAR_017943 commonName VAR_017943 VAR_017943 disease phenotype-associated VAR_017943 phenoCommon Tetralogy of Fallot (TOF) [MIM:187500] VAR_017944 commonName VAR_017944 VAR_017944 disease not phenotype-associated VAR_017945 commonName VAR_017945 VAR_017945 disease phenotype-associated VAR_017945 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737] VAR_017946 commonName VAR_017946 VAR_017946 disease phenotype-associated VAR_017946 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737] VAR_017947 commonName VAR_017947 VAR_017947 disease phenotype-associated VAR_017947 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737] VAR_017948 commonName VAR_017948 VAR_017948 disease phenotype-associated VAR_017948 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737] VAR_017949 commonName VAR_017949 VAR_017949 disease phenotype-associated VAR_017949 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737] VAR_017950 commonName VAR_017950 VAR_017950 disease phenotype-associated VAR_017950 phenoCommon Sialuria (SIALURIA) [MIM:269921] VAR_017951 commonName VAR_017951 VAR_017951 disease phenotype-associated VAR_017951 phenoCommon Sialuria (SIALURIA) [MIM:269921] VAR_017952 commonName VAR_017952 VAR_017952 disease phenotype-associated VAR_017952 phenoCommon Sialuria (SIALURIA) [MIM:269921] VAR_017953 commonName VAR_017953 VAR_017953 disease phenotype-associated VAR_017953 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737] VAR_017954 commonName VAR_017954 VAR_017954 disease phenotype-associated VAR_017954 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737] VAR_017954 phenoCommon Nonaka myopathy (NM) [MIM:605820] VAR_017955 commonName VAR_017955 VAR_017955 disease phenotype-associated VAR_017955 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737] VAR_017955 phenoCommon Nonaka myopathy (NM) [MIM:605820] VAR_017956 commonName VAR_017956 VAR_017956 disease phenotype-associated VAR_017956 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737] VAR_017957 commonName VAR_017957 VAR_017957 disease phenotype-associated VAR_017957 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737] VAR_017958 commonName VAR_017958 VAR_017958 disease phenotype-associated VAR_017958 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737] VAR_017959 commonName VAR_017959 VAR_017959 disease phenotype-associated VAR_017959 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737] VAR_017959 phenoCommon Nonaka myopathy (NM) [MIM:605820] VAR_017960 commonName VAR_017960 VAR_017960 disease phenotype-associated VAR_017960 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737] VAR_017961 commonName VAR_017961 VAR_017961 disease phenotype-associated VAR_017961 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737] VAR_017962 commonName VAR_017962 VAR_017962 disease phenotype-associated VAR_017962 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737] VAR_017963 commonName VAR_017963 VAR_017963 disease phenotype-associated VAR_017963 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737] VAR_017963 phenoCommon Nonaka myopathy (NM) [MIM:605820] VAR_017964 commonName VAR_017964 VAR_017964 disease phenotype-associated VAR_017964 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737] VAR_017965 commonName VAR_017965 VAR_017965 disease phenotype-associated VAR_017965 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737] VAR_017966 commonName VAR_017966 VAR_017966 disease phenotype-associated VAR_017966 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737] VAR_018045 commonName VAR_018045 VAR_018045 disease phenotype-associated VAR_018045 phenoCommon Ovarian dysgenesis type 1 (ODG1) [MIM:233300] VAR_018046 commonName VAR_018046 VAR_018046 disease phenotype-associated VAR_018046 phenoCommon Ovarian dysgenesis type 1 (ODG1) [MIM:233300] VAR_018047 commonName VAR_018047 VAR_018047 disease phenotype-associated VAR_018047 phenoCommon Ovarian dysgenesis type 1 (ODG1) [MIM:233300] VAR_018048 commonName VAR_018048 VAR_018048 disease phenotype-associated VAR_018048 phenoCommon Ovarian dysgenesis type 1 (ODG1) [MIM:233300] VAR_018049 comment Ovarian sex cord tumor VAR_018049 commonName VAR_018049 VAR_018052 commonName VAR_018052 VAR_018052 disease not phenotype-associated VAR_018069 commonName VAR_018069 VAR_018069 disease phenotype-associated VAR_018069 phenoCommon Retinitis pigmentosa type 2 (RP2) [MIM:312600] VAR_018070 commonName VAR_018070 VAR_018070 disease phenotype-associated VAR_018070 phenoCommon Retinitis pigmentosa type 2 (RP2) [MIM:312600] VAR_018071 commonName VAR_018071 VAR_018072 commonName VAR_018072 VAR_018072 disease phenotype-associated VAR_018072 phenoCommon Retinitis pigmentosa type 2 (RP2) [MIM:312600] VAR_018074 commonName VAR_018074 VAR_018074 disease phenotype-associated VAR_018074 phenoCommon Retinitis pigmentosa type 2 (RP2) [MIM:312600] VAR_018075 commonName VAR_018075 VAR_018075 disease phenotype-associated VAR_018075 phenoCommon Retinitis pigmentosa type 2 (RP2) [MIM:312600] VAR_018078 commonName VAR_018078 VAR_018078 disease phenotype-associated VAR_018078 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_018079 commonName VAR_018079 VAR_018079 disease phenotype-associated VAR_018079 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_018080 commonName VAR_018080 VAR_018080 disease phenotype-associated VAR_018080 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_018081 commonName VAR_018081 VAR_018081 disease phenotype-associated VAR_018081 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_018082 commonName VAR_018082 VAR_018082 disease phenotype-associated VAR_018082 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_018083 commonName VAR_018083 VAR_018083 disease phenotype-associated VAR_018083 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_018084 commonName VAR_018084 VAR_018084 disease phenotype-associated VAR_018084 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_018085 commonName VAR_018085 VAR_018085 disease phenotype-associated VAR_018085 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_018086 commonName VAR_018086 VAR_018086 disease phenotype-associated VAR_018086 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_018087 commonName VAR_018087 VAR_018087 disease phenotype-associated VAR_018087 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_018088 commonName VAR_018088 VAR_018088 disease phenotype-associated VAR_018088 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_018089 commonName VAR_018089 VAR_018089 disease phenotype-associated VAR_018089 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_018091 commonName VAR_018091 VAR_018091 disease phenotype-associated VAR_018091 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_018092 commonName VAR_018092 VAR_018092 disease phenotype-associated VAR_018092 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_018093 commonName VAR_018093 VAR_018093 disease phenotype-associated VAR_018093 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_018094 commonName VAR_018094 VAR_018094 disease phenotype-associated VAR_018094 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_018095 commonName VAR_018095 VAR_018095 disease phenotype-associated VAR_018095 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_018096 commonName VAR_018096 VAR_018096 disease phenotype-associated VAR_018096 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_018097 commonName VAR_018097 VAR_018097 disease phenotype-associated VAR_018097 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_018098 commonName VAR_018098 VAR_018098 disease not phenotype-associated VAR_018099 commonName VAR_018099 VAR_018099 disease not phenotype-associated VAR_018100 comment Malignant melanoma VAR_018100 commonName VAR_018100 VAR_018101 commonName VAR_018101 VAR_018102 commonName VAR_018102 VAR_018102 disease phenotype-associated VAR_018102 phenoCommon Cowden disease (CD) [MIM:158350] VAR_018103 commonName VAR_018103 VAR_018103 disease phenotype-associated VAR_018103 phenoCommon Head and neck squamous cell carcinomas (HNSCC) [MIM:275355] VAR_018104 commonName VAR_018104 VAR_018104 disease phenotype-associated VAR_018104 phenoCommon Cowden disease (CD) [MIM:158350] VAR_018105 comment Malignant melanoma VAR_018105 commonName VAR_018105 VAR_018106 comment A patient with glioma VAR_018106 commonName VAR_018106 VAR_018107 commonName VAR_018107 VAR_018107 disease not phenotype-associated VAR_018109 commonName VAR_018109 VAR_018109 disease not phenotype-associated VAR_018110 commonName VAR_018110 VAR_018110 disease not phenotype-associated VAR_018111 commonName VAR_018111 VAR_018111 disease phenotype-associated VAR_018111 phenoCommon Achromatopsia type 3 (ACHM3) [MIM:262300] VAR_018112 commonName VAR_018112 VAR_018112 disease not phenotype-associated VAR_018113 commonName VAR_018113 VAR_018113 disease not phenotype-associated VAR_018114 commonName VAR_018114 VAR_018114 disease not phenotype-associated VAR_018115 commonName VAR_018115 VAR_018115 disease not phenotype-associated VAR_018116 commonName VAR_018116 VAR_018116 disease phenotype-associated VAR_018116 phenoCommon Monilethrix (MLTRX) [MIM:158000] VAR_018117 commonName VAR_018117 VAR_018117 disease phenotype-associated VAR_018117 phenoCommon Monilethrix (MLTRX) [MIM:158000] VAR_018118 commonName VAR_018118 VAR_018118 disease not phenotype-associated VAR_018119 commonName VAR_018119 VAR_018119 disease not phenotype-associated VAR_018120 commonName VAR_018120 VAR_018120 disease not phenotype-associated VAR_018121 commonName VAR_018121 VAR_018121 disease not phenotype-associated VAR_018122 commonName VAR_018122 VAR_018122 disease not phenotype-associated VAR_018123 commonName VAR_018123 VAR_018123 disease not phenotype-associated VAR_018124 commonName VAR_018124 VAR_018124 disease not phenotype-associated VAR_018125 commonName VAR_018125 VAR_018125 disease phenotype-associated VAR_018125 phenoCommon Monilethrix (MLTRX) [MIM:158000] VAR_018126 commonName VAR_018126 VAR_018126 disease phenotype-associated VAR_018126 phenoCommon Monilethrix (MLTRX) [MIM:158000] VAR_018127 commonName VAR_018127 VAR_018127 disease phenotype-associated VAR_018127 phenoCommon Monilethrix (MLTRX) [MIM:158000] VAR_018128 commonName VAR_018128 VAR_018128 disease phenotype-associated VAR_018128 phenoCommon Monilethrix (MLTRX) [MIM:158000] VAR_018129 commonName VAR_018129 VAR_018129 disease phenotype-associated VAR_018129 phenoCommon Monilethrix (MLTRX) [MIM:158000] VAR_018130 commonName VAR_018130 VAR_018130 disease phenotype-associated VAR_018130 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500] VAR_018131 commonName VAR_018131 VAR_018131 disease phenotype-associated VAR_018131 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500] VAR_018132 commonName VAR_018132 VAR_018132 disease phenotype-associated VAR_018132 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500] VAR_018133 commonName VAR_018133 VAR_018133 disease phenotype-associated VAR_018133 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500] VAR_018134 commonName VAR_018134 VAR_018134 disease phenotype-associated VAR_018134 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500] VAR_018135 commonName VAR_018135 VAR_018135 disease phenotype-associated VAR_018135 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500] VAR_018136 commonName VAR_018136 VAR_018136 disease phenotype-associated VAR_018136 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500] VAR_018137 commonName VAR_018137 VAR_018137 disease phenotype-associated VAR_018137 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500] VAR_018138 commonName VAR_018138 VAR_018138 disease phenotype-associated VAR_018138 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500] VAR_018139 commonName VAR_018139 VAR_018139 disease phenotype-associated VAR_018139 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500] VAR_018140 commonName VAR_018140 VAR_018140 disease phenotype-associated VAR_018140 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500] VAR_018141 commonName VAR_018141 VAR_018141 disease phenotype-associated VAR_018141 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500] VAR_018142 commonName VAR_018142 VAR_018142 disease not phenotype-associated VAR_018143 commonName VAR_018143 VAR_018143 disease not phenotype-associated VAR_018144 commonName VAR_018144 VAR_018144 disease not phenotype-associated VAR_018145 commonName VAR_018145 VAR_018145 disease not phenotype-associated VAR_018146 commonName VAR_018146 VAR_018146 disease not phenotype-associated VAR_018147 commonName VAR_018147 VAR_018147 disease not phenotype-associated VAR_018149 commonName VAR_018149 VAR_018149 disease phenotype-associated VAR_018149 phenoCommon GRACILE syndrome (GRACILE) [MIM:603358] VAR_018150 commonName VAR_018150 VAR_018151 commonName VAR_018151 VAR_018151 disease phenotype-associated VAR_018151 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100] VAR_018153 commonName VAR_018153 VAR_018153 disease phenotype-associated VAR_018153 phenoCommon Congenital central hypoventilation syndrome (CCHS) [MIM:209880] VAR_018154 commonName VAR_018154 VAR_018154 disease phenotype-associated VAR_018154 phenoCommon Congenital central hypoventilation syndrome (CCHS) [MIM:209880] VAR_018154 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_018155 commonName VAR_018155 VAR_018155 disease phenotype-associated VAR_018155 phenoCommon Congenital central hypoventilation syndrome (CCHS) [MIM:209880] VAR_018156 commonName VAR_018156 VAR_018156 disease not phenotype-associated VAR_018157 commonName VAR_018157 VAR_018157 disease phenotype-associated VAR_018157 phenoCommon Congenital central hypoventilation syndrome (CCHS) [MIM:209880] VAR_018158 commonName VAR_018158 VAR_018159 commonName VAR_018159 VAR_018159 disease phenotype-associated VAR_018159 phenoCommon Mitochondrial complex III deficiency (MT-C3D) [MIM:124000] VAR_018160 commonName VAR_018160 VAR_018160 disease phenotype-associated VAR_018160 phenoCommon GRACILE syndrome (GRACILE) [MIM:603358] VAR_018161 commonName VAR_018161 VAR_018161 disease phenotype-associated VAR_018161 phenoCommon Mitochondrial complex III deficiency (MT-C3D) [MIM:124000] VAR_018162 commonName VAR_018162 VAR_018162 disease phenotype-associated VAR_018162 phenoCommon Mitochondrial complex III deficiency (MT-C3D) [MIM:124000] VAR_018163 commonName VAR_018163 VAR_018163 disease phenotype-associated VAR_018163 phenoCommon GRACILE syndrome (GRACILE) [MIM:603358] VAR_018164 commonName VAR_018164 VAR_018164 disease phenotype-associated VAR_018164 phenoCommon Mitochondrial complex III deficiency (MT-C3D) [MIM:124000] VAR_018165 commonName VAR_018165 VAR_018166 commonName VAR_018166 VAR_018167 commonName VAR_018167 VAR_018167 disease not phenotype-associated VAR_018168 commonName VAR_018168 VAR_018169 commonName VAR_018169 VAR_018169 disease not phenotype-associated VAR_018170 commonName VAR_018170 VAR_018170 disease not phenotype-associated VAR_018172 commonName VAR_018172 VAR_018172 disease not phenotype-associated VAR_018173 commonName VAR_018173 VAR_018173 disease not phenotype-associated VAR_018174 commonName VAR_018174 VAR_018174 disease not phenotype-associated VAR_018175 commonName VAR_018175 VAR_018175 disease not phenotype-associated VAR_018176 commonName VAR_018176 VAR_018176 disease not phenotype-associated VAR_018177 commonName VAR_018177 VAR_018177 disease not phenotype-associated VAR_018178 commonName VAR_018178 VAR_018178 disease not phenotype-associated VAR_018180 commonName VAR_018180 VAR_018180 disease phenotype-associated VAR_018180 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_018181 commonName VAR_018181 VAR_018181 disease not phenotype-associated VAR_018182 commonName VAR_018182 VAR_018182 disease phenotype-associated VAR_018182 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_018183 commonName VAR_018183 VAR_018183 disease phenotype-associated VAR_018183 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_018184 commonName VAR_018184 VAR_018184 disease phenotype-associated VAR_018184 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_018185 commonName VAR_018185 VAR_018185 disease phenotype-associated VAR_018185 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_018186 commonName VAR_018186 VAR_018186 disease phenotype-associated VAR_018186 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_018187 commonName VAR_018187 VAR_018187 disease phenotype-associated VAR_018187 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_018188 commonName VAR_018188 VAR_018188 disease phenotype-associated VAR_018188 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_018189 commonName VAR_018189 VAR_018189 disease phenotype-associated VAR_018189 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_018190 commonName VAR_018190 VAR_018190 disease phenotype-associated VAR_018190 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_018191 commonName VAR_018191 VAR_018191 disease phenotype-associated VAR_018191 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_018192 commonName VAR_018192 VAR_018192 disease phenotype-associated VAR_018192 phenoCommon Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055] VAR_018193 commonName VAR_018193 VAR_018193 disease not phenotype-associated VAR_018194 commonName VAR_018194 VAR_018194 disease not phenotype-associated VAR_018195 commonName VAR_018195 VAR_018195 disease not phenotype-associated VAR_018196 commonName VAR_018196 VAR_018196 disease not phenotype-associated VAR_018197 commonName VAR_018197 VAR_018197 disease phenotype-associated VAR_018197 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_018198 commonName VAR_018198 VAR_018198 disease phenotype-associated VAR_018198 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_018199 commonName VAR_018199 VAR_018199 disease not phenotype-associated VAR_018200 commonName VAR_018200 VAR_018200 disease not phenotype-associated VAR_018201 commonName VAR_018201 VAR_018201 disease not phenotype-associated VAR_018202 commonName VAR_018202 VAR_018202 disease not phenotype-associated VAR_018203 commonName VAR_018203 VAR_018203 disease phenotype-associated VAR_018203 phenoCommon Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055] VAR_018204 commonName VAR_018204 VAR_018204 disease not phenotype-associated VAR_018205 commonName VAR_018205 VAR_018205 disease not phenotype-associated VAR_018206 commonName VAR_018206 VAR_018206 disease phenotype-associated VAR_018206 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_018207 commonName VAR_018207 VAR_018207 disease phenotype-associated VAR_018207 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_018208 commonName VAR_018208 VAR_018208 disease phenotype-associated VAR_018208 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_018209 commonName VAR_018209 VAR_018209 disease phenotype-associated VAR_018209 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_018210 commonName VAR_018210 VAR_018210 disease phenotype-associated VAR_018210 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_018211 commonName VAR_018211 VAR_018211 disease phenotype-associated VAR_018211 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_018212 commonName VAR_018212 VAR_018212 disease phenotype-associated VAR_018212 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_018213 commonName VAR_018213 VAR_018213 disease phenotype-associated VAR_018213 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_018214 commonName VAR_018214 VAR_018214 disease phenotype-associated VAR_018214 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_018215 commonName VAR_018215 VAR_018215 disease not phenotype-associated VAR_018216 commonName VAR_018216 VAR_018218 commonName VAR_018218 VAR_018219 commonName VAR_018219 VAR_018219 disease not phenotype-associated VAR_018220 commonName VAR_018220 VAR_018221 commonName VAR_018221 VAR_018221 disease not phenotype-associated VAR_018222 commonName VAR_018222 VAR_018222 disease not phenotype-associated VAR_018223 commonName VAR_018223 VAR_018223 disease not phenotype-associated VAR_018224 commonName VAR_018224 VAR_018224 disease not phenotype-associated VAR_018225 commonName VAR_018225 VAR_018225 disease phenotype-associated VAR_018225 phenoCommon Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055] VAR_018226 commonName VAR_018226 VAR_018226 disease not phenotype-associated VAR_018227 commonName VAR_018227 VAR_018227 disease phenotype-associated VAR_018227 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_018228 commonName VAR_018228 VAR_018228 disease phenotype-associated VAR_018228 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_018229 commonName VAR_018229 VAR_018229 disease phenotype-associated VAR_018229 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_018230 commonName VAR_018230 VAR_018230 disease phenotype-associated VAR_018230 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_018231 commonName VAR_018231 VAR_018231 disease phenotype-associated VAR_018231 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_018232 commonName VAR_018232 VAR_018232 disease phenotype-associated VAR_018232 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_018233 commonName VAR_018233 VAR_018233 disease phenotype-associated VAR_018233 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_018234 commonName VAR_018234 VAR_018234 disease phenotype-associated VAR_018234 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_018235 commonName VAR_018235 VAR_018235 disease phenotype-associated VAR_018235 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_018236 commonName VAR_018236 VAR_018236 disease phenotype-associated VAR_018236 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_018237 commonName VAR_018237 VAR_018237 disease phenotype-associated VAR_018237 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_018238 commonName VAR_018238 VAR_018238 disease phenotype-associated VAR_018238 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_018239 commonName VAR_018239 VAR_018239 disease phenotype-associated VAR_018239 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_018240 commonName VAR_018240 VAR_018240 disease phenotype-associated VAR_018240 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_018241 commonName VAR_018241 VAR_018241 disease phenotype-associated VAR_018241 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_018242 commonName VAR_018242 VAR_018242 disease phenotype-associated VAR_018242 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_018243 commonName VAR_018243 VAR_018243 disease phenotype-associated VAR_018243 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_018244 commonName VAR_018244 VAR_018244 disease phenotype-associated VAR_018244 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_018245 commonName VAR_018245 VAR_018245 disease phenotype-associated VAR_018245 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_018246 commonName VAR_018246 VAR_018246 disease phenotype-associated VAR_018246 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_018247 commonName VAR_018247 VAR_018247 disease phenotype-associated VAR_018247 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_018248 commonName VAR_018248 VAR_018248 disease phenotype-associated VAR_018248 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_018249 commonName VAR_018249 VAR_018249 disease phenotype-associated VAR_018249 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_018250 commonName VAR_018250 VAR_018250 disease phenotype-associated VAR_018250 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_018251 commonName VAR_018251 VAR_018251 disease phenotype-associated VAR_018251 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_018252 commonName VAR_018252 VAR_018252 disease phenotype-associated VAR_018252 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_018253 commonName VAR_018253 VAR_018253 disease phenotype-associated VAR_018253 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_018254 commonName VAR_018254 VAR_018254 disease phenotype-associated VAR_018254 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_018255 commonName VAR_018255 VAR_018255 disease phenotype-associated VAR_018255 phenoCommon Centronuclear myopathy X-linked (CNMX) [MIM:310400] VAR_018260 commonName VAR_018260 VAR_018260 disease phenotype-associated VAR_018260 phenoCommon Congenital central hypoventilation syndrome (CCHS) [MIM:209880] VAR_018261 commonName VAR_018261 VAR_018262 commonName VAR_018262 VAR_018262 disease not phenotype-associated VAR_018263 commonName VAR_018263 VAR_018263 disease not phenotype-associated VAR_018264 commonName VAR_018264 HbVar.678 ethnic Yugoslavian VAR_018264 disease not phenotype-associated VAR_018267 commonName VAR_018267 VAR_018267 disease not phenotype-associated VAR_018268 commonName VAR_018268 VAR_018268 disease phenotype-associated VAR_018268 phenoCommon Charcot-Marie-Tooth disease type 4C (CMT4C) [MIM:601596] VAR_018269 commonName VAR_018269 VAR_018269 disease phenotype-associated VAR_018269 phenoCommon Charcot-Marie-Tooth disease type 4C (CMT4C) [MIM:601596] VAR_018270 commonName VAR_018270 VAR_018270 disease phenotype-associated VAR_018270 phenoCommon Charcot-Marie-Tooth disease type 4C (CMT4C) [MIM:601596] VAR_018271 commonName VAR_018271 VAR_018271 disease not phenotype-associated VAR_018272 commonName VAR_018272 VAR_018272 disease not phenotype-associated VAR_018273 commonName VAR_018273 VAR_018273 disease not phenotype-associated VAR_018274 commonName VAR_018274 VAR_018274 disease not phenotype-associated VAR_018275 commonName VAR_018275 VAR_018276 commonName VAR_018276 VAR_018276 disease not phenotype-associated VAR_018277 commonName VAR_018277 VAR_018277 disease not phenotype-associated VAR_018278 commonName VAR_018278 VAR_018278 disease phenotype-associated VAR_018278 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A4 (MDDGA4) [MIM:253800] VAR_018280 commonName VAR_018280 VAR_018282 commonName VAR_018282 VAR_018282 disease phenotype-associated VAR_018282 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] VAR_018283 commonName VAR_018283 VAR_018283 disease phenotype-associated VAR_018283 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612] VAR_018284 commonName VAR_018284 VAR_018284 disease phenotype-associated VAR_018284 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612] VAR_018285 commonName VAR_018285 VAR_018285 disease phenotype-associated VAR_018285 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] VAR_018286 commonName VAR_018286 VAR_018286 disease phenotype-associated VAR_018286 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612] VAR_018287 commonName VAR_018287 VAR_018287 disease phenotype-associated VAR_018287 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] VAR_018288 commonName VAR_018288 VAR_018288 disease phenotype-associated VAR_018288 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612] VAR_018289 commonName VAR_018289 VAR_018289 disease phenotype-associated VAR_018289 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612] VAR_018289 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] VAR_018290 commonName VAR_018290 VAR_018290 disease phenotype-associated VAR_018290 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612] VAR_018291 commonName VAR_018291 VAR_018291 disease phenotype-associated VAR_018291 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] VAR_018292 commonName VAR_018292 VAR_018292 disease phenotype-associated VAR_018292 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612] VAR_018293 commonName VAR_018293 VAR_018293 disease phenotype-associated VAR_018293 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612] VAR_018294 commonName VAR_018294 VAR_018294 disease phenotype-associated VAR_018294 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612] VAR_018295 commonName VAR_018295 VAR_018295 disease phenotype-associated VAR_018295 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612] VAR_018296 commonName VAR_018296 VAR_018296 disease not phenotype-associated VAR_018297 commonName VAR_018297 VAR_018297 disease not phenotype-associated VAR_018298 commonName VAR_018298 VAR_018298 disease not phenotype-associated VAR_018300 commonName VAR_018300 VAR_018300 disease phenotype-associated VAR_018300 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] VAR_018301 commonName VAR_018301 VAR_018301 disease phenotype-associated VAR_018301 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] VAR_018302 commonName VAR_018302 VAR_018302 disease phenotype-associated VAR_018302 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] VAR_018303 commonName VAR_018303 VAR_018303 disease phenotype-associated VAR_018303 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] VAR_018304 commonName VAR_018304 VAR_018304 disease phenotype-associated VAR_018304 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] VAR_018305 commonName VAR_018305 VAR_018305 disease phenotype-associated VAR_018305 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] VAR_018306 commonName VAR_018306 VAR_018306 disease phenotype-associated VAR_018306 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] VAR_018307 commonName VAR_018307 VAR_018307 disease phenotype-associated VAR_018307 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] VAR_018308 commonName VAR_018308 VAR_018308 disease phenotype-associated VAR_018308 phenoCommon May-Hegglin anomaly (MHA) [MIM:155100] VAR_018309 commonName VAR_018309 VAR_018309 disease phenotype-associated VAR_018309 phenoCommon Epstein syndrome (EPS) [MIM:153650] VAR_018310 commonName VAR_018310 VAR_018310 disease phenotype-associated VAR_018310 phenoCommon May-Hegglin anomaly (MHA) [MIM:155100] VAR_018310 phenoCommon Sebastian syndrome (SBS) [MIM:605249] VAR_018311 commonName VAR_018311 VAR_018311 disease phenotype-associated VAR_018311 phenoCommon Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650] VAR_018311 phenoCommon Epstein syndrome (EPS) [MIM:153650] VAR_018312 commonName VAR_018312 VAR_018312 disease phenotype-associated VAR_018312 phenoCommon Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650] VAR_018313 commonName VAR_018313 VAR_018313 disease phenotype-associated VAR_018313 phenoCommon Fechtner syndrome (FTNS) [MIM:153640] VAR_018313 phenoCommon May-Hegglin anomaly (MHA) [MIM:155100] VAR_018313 phenoCommon Sebastian syndrome (SBS) [MIM:605249] VAR_018315 commonName VAR_018315 VAR_018316 commonName VAR_018316 VAR_018316 disease phenotype-associated VAR_018316 phenoCommon Fechtner syndrome (FTNS) [MIM:153640] VAR_018316 phenoCommon Macrothrombocytopenia with progressive sensorineural deafness (MPSD) [MIM:600208] VAR_018316 phenoCommon May-Hegglin anomaly (MHA) [MIM:155100] VAR_018316 phenoCommon Sebastian syndrome (SBS) [MIM:605249] VAR_018317 commonName VAR_018317 VAR_018317 disease phenotype-associated VAR_018317 phenoCommon May-Hegglin anomaly (MHA) [MIM:155100] VAR_018318 commonName VAR_018318 VAR_018318 disease not phenotype-associated VAR_018321 comment Squamous cell carcinoma VAR_018321 commonName VAR_018321 VAR_018322 comment Squamous cell carcinoma VAR_018322 commonName VAR_018322 VAR_018323 comment Squamous cell carcinoma VAR_018323 commonName VAR_018323 VAR_018324 commonName VAR_018324 VAR_018324 disease phenotype-associated VAR_018324 phenoCommon Brachydactyly type B2 (BDB2) [MIM:611377] VAR_018324 phenoCommon Symphalangism proximal syndrome (SYM1) [MIM:185800] VAR_018325 commonName VAR_018325 VAR_018325 disease phenotype-associated VAR_018325 phenoCommon Symphalangism proximal syndrome (SYM1) [MIM:185800] VAR_018326 commonName VAR_018326 VAR_018326 disease phenotype-associated VAR_018326 phenoCommon Tarsal-carpal coalition syndrome (TCC) [MIM:186570] VAR_018328 commonName VAR_018328 VAR_018329 commonName VAR_018329 VAR_018329 disease not phenotype-associated VAR_018330 commonName VAR_018330 VAR_018330 disease not phenotype-associated VAR_018331 commonName VAR_018331 VAR_018331 disease not phenotype-associated VAR_018332 commonName VAR_018332 VAR_018332 disease not phenotype-associated VAR_018333 commonName VAR_018333 VAR_018333 disease not phenotype-associated VAR_018334 commonName VAR_018334 VAR_018334 disease not phenotype-associated VAR_018335 commonName VAR_018335 VAR_018335 disease not phenotype-associated VAR_018337 commonName VAR_018337 VAR_018337 disease not phenotype-associated VAR_018338 commonName VAR_018338 VAR_018338 disease not phenotype-associated VAR_018339 commonName VAR_018339 VAR_018339 disease not phenotype-associated VAR_018340 commonName VAR_018340 VAR_018340 disease not phenotype-associated VAR_018341 commonName VAR_018341 VAR_018341 disease not phenotype-associated VAR_018344 commonName VAR_018344 VAR_018344 disease not phenotype-associated VAR_018345 commonName VAR_018345 VAR_018345 disease not phenotype-associated VAR_018346 commonName VAR_018346 VAR_018346 disease not phenotype-associated VAR_018347 commonName VAR_018347 VAR_018347 disease not phenotype-associated VAR_018348 commonName VAR_018348 VAR_018348 disease not phenotype-associated VAR_018349 commonName VAR_018349 VAR_018349 disease not phenotype-associated VAR_018350 commonName VAR_018350 VAR_018350 disease not phenotype-associated VAR_018351 commonName VAR_018351 VAR_018351 disease not phenotype-associated VAR_018352 commonName VAR_018352 VAR_018352 disease not phenotype-associated VAR_018353 commonName VAR_018353 VAR_018353 disease not phenotype-associated VAR_018354 commonName VAR_018354 VAR_018354 disease not phenotype-associated VAR_018355 commonName VAR_018355 VAR_018355 disease not phenotype-associated VAR_018356 commonName VAR_018356 VAR_018356 disease not phenotype-associated VAR_018357 commonName VAR_018357 VAR_018357 disease not phenotype-associated VAR_018358 commonName VAR_018358 VAR_018358 disease not phenotype-associated VAR_018359 commonName VAR_018359 VAR_018359 disease not phenotype-associated VAR_018360 commonName VAR_018360 VAR_018360 disease not phenotype-associated VAR_018361 commonName VAR_018361 VAR_018361 disease not phenotype-associated VAR_018369 commonName VAR_018369 VAR_018369 disease not phenotype-associated VAR_018370 commonName VAR_018370 VAR_018370 disease not phenotype-associated VAR_018371 commonName VAR_018371 VAR_018371 disease not phenotype-associated VAR_018372 commonName VAR_018372 VAR_018372 disease not phenotype-associated VAR_018373 commonName VAR_018373 VAR_018373 disease not phenotype-associated VAR_018374 commonName VAR_018374 VAR_018374 disease not phenotype-associated VAR_018375 commonName VAR_018375 VAR_018375 disease not phenotype-associated VAR_018376 commonName VAR_018376 VAR_018376 disease not phenotype-associated VAR_018377 commonName VAR_018377 VAR_018377 disease not phenotype-associated VAR_018378 commonName VAR_018378 VAR_018378 disease not phenotype-associated VAR_018379 commonName VAR_018379 VAR_018379 disease not phenotype-associated VAR_018382 commonName VAR_018382 VAR_018382 disease not phenotype-associated VAR_018383 commonName VAR_018383 VAR_018383 disease not phenotype-associated VAR_018384 commonName VAR_018384 VAR_018384 disease not phenotype-associated VAR_018385 commonName VAR_018385 VAR_018385 disease not phenotype-associated VAR_018386 commonName VAR_018386 VAR_018386 disease phenotype-associated VAR_018386 phenoCommon Leber congenital amaurosis type 14 (LCA14) [MIM:613341] VAR_018387 commonName VAR_018387 VAR_018387 disease phenotype-associated VAR_018387 phenoCommon ACTH deficiency isolated (IAD) [MIM:201400] VAR_018388 comment Colorectal cancer VAR_018388 commonName VAR_018388 VAR_018389 commonName VAR_018389 VAR_018389 disease phenotype-associated VAR_018389 phenoCommon Hypochondroplasia (HCH) [MIM:146000] VAR_018390 commonName VAR_018390 VAR_018390 disease phenotype-associated VAR_018390 phenoCommon Bladder cancer (BLC) [MIM:109800] VAR_018390 phenoCommon Hypochondroplasia (HCH) [MIM:146000] VAR_018391 commonName VAR_018391 VAR_018391 disease phenotype-associated VAR_018391 phenoCommon Non-syndromic orofacial cleft type 5 (OFC5) [MIM:608874] VAR_018392 commonName VAR_018392 VAR_018392 disease phenotype-associated VAR_018392 phenoCommon Non-syndromic orofacial cleft type 5 (OFC5) [MIM:608874] VAR_018393 commonName VAR_018393 VAR_018393 disease phenotype-associated VAR_018393 phenoCommon Non-syndromic orofacial cleft type 5 (OFC5) [MIM:608874] VAR_018394 commonName VAR_018394 VAR_018394 disease phenotype-associated VAR_018394 phenoCommon Non-syndromic orofacial cleft type 5 (OFC5) [MIM:608874] VAR_018395 commonName VAR_018395 VAR_018395 disease phenotype-associated VAR_018395 phenoCommon Non-syndromic orofacial cleft type 5 (OFC5) [MIM:608874] VAR_018396 commonName VAR_018396 VAR_018396 disease not phenotype-associated VAR_018397 commonName VAR_018397 VAR_018397 disease not phenotype-associated VAR_018399 commonName VAR_018399 VAR_018399 disease not phenotype-associated VAR_018400 commonName VAR_018400 VAR_018400 disease not phenotype-associated VAR_018401 commonName VAR_018401 VAR_018401 disease not phenotype-associated VAR_018402 commonName VAR_018402 VAR_018402 disease not phenotype-associated VAR_018403 commonName VAR_018403 VAR_018403 disease not phenotype-associated VAR_018404 commonName VAR_018404 VAR_018404 disease not phenotype-associated VAR_018405 commonName VAR_018405 VAR_018405 disease not phenotype-associated VAR_018406 commonName VAR_018406 VAR_018406 disease not phenotype-associated VAR_018407 commonName VAR_018407 VAR_018407 disease not phenotype-associated VAR_018408 commonName VAR_018408 VAR_018408 disease not phenotype-associated VAR_018409 commonName VAR_018409 VAR_018409 disease phenotype-associated VAR_018409 phenoCommon Lymphedema hereditary type 1A (LMPH1A) [MIM:153100] VAR_018410 commonName VAR_018410 VAR_018410 disease not phenotype-associated VAR_018411 commonName VAR_018411 VAR_018411 disease phenotype-associated VAR_018411 phenoCommon Hemangioma capillary infantile (HCI) [MIM:602089] VAR_018412 commonName VAR_018412 VAR_018412 disease phenotype-associated VAR_018412 phenoCommon Lymphedema hereditary type 1A (LMPH1A) [MIM:153100] VAR_018413 commonName VAR_018413 VAR_018413 disease phenotype-associated VAR_018413 phenoCommon Lymphedema hereditary type 1A (LMPH1A) [MIM:153100] VAR_018414 commonName VAR_018414 VAR_018414 disease phenotype-associated VAR_018414 phenoCommon Lymphedema hereditary type 1A (LMPH1A) [MIM:153100] VAR_018415 commonName VAR_018415 VAR_018415 disease phenotype-associated VAR_018415 phenoCommon Lymphedema hereditary type 1A (LMPH1A) [MIM:153100] VAR_018416 commonName VAR_018416 VAR_018416 disease phenotype-associated VAR_018416 phenoCommon Hemangioma capillary infantile (HCI) [MIM:602089] VAR_018417 commonName VAR_018417 VAR_018417 disease not phenotype-associated VAR_018418 commonName VAR_018418 VAR_018418 disease phenotype-associated VAR_018418 phenoCommon Lymphedema-distichiasis (LYD) [MIM:153400] VAR_018419 commonName VAR_018419 VAR_018419 disease not phenotype-associated VAR_018420 commonName VAR_018420 VAR_018420 disease not phenotype-associated VAR_018421 commonName VAR_018421 VAR_018421 disease not phenotype-associated VAR_018422 commonName VAR_018422 VAR_018422 disease not phenotype-associated VAR_018423 commonName VAR_018423 VAR_018423 disease not phenotype-associated VAR_018424 commonName VAR_018424 VAR_018424 disease not phenotype-associated VAR_018425 commonName VAR_018425 VAR_018425 disease not phenotype-associated VAR_018426 commonName VAR_018426 VAR_018426 disease phenotype-associated VAR_018426 phenoCommon Laron syndrome (LARS) [MIM:262500] VAR_018427 commonName VAR_018427 VAR_018427 disease phenotype-associated VAR_018427 phenoCommon Laron syndrome (LARS) [MIM:262500] VAR_018428 commonName VAR_018428 VAR_018428 disease phenotype-associated VAR_018428 phenoCommon Laron syndrome (LARS) [MIM:262500] VAR_018429 commonName VAR_018429 VAR_018429 disease phenotype-associated VAR_018429 phenoCommon Laron syndrome (LARS) [MIM:262500] VAR_018430 commonName VAR_018430 VAR_018431 commonName VAR_018431 VAR_018431 disease phenotype-associated VAR_018431 phenoCommon Laron syndrome (LARS) [MIM:262500] VAR_018432 commonName VAR_018432 VAR_018432 disease phenotype-associated VAR_018432 phenoCommon Laron syndrome (LARS) [MIM:262500] VAR_018433 commonName VAR_018433 VAR_018433 disease phenotype-associated VAR_018433 phenoCommon Laron syndrome (LARS) [MIM:262500] VAR_018434 commonName VAR_018434 VAR_018434 disease phenotype-associated VAR_018434 phenoCommon Laron syndrome (LARS) [MIM:262500] VAR_018435 commonName VAR_018435 VAR_018435 disease phenotype-associated VAR_018435 phenoCommon Laron syndrome (LARS) [MIM:262500] VAR_018436 commonName VAR_018436 VAR_018436 disease phenotype-associated VAR_018436 phenoCommon Laron syndrome (LARS) [MIM:262500] VAR_018437 commonName VAR_018437 VAR_018437 disease phenotype-associated VAR_018437 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] VAR_018438 commonName VAR_018438 VAR_018438 disease phenotype-associated VAR_018438 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] VAR_018439 commonName VAR_018439 VAR_018439 disease phenotype-associated VAR_018439 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] VAR_018440 commonName VAR_018440 VAR_018440 disease phenotype-associated VAR_018440 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] VAR_018441 commonName VAR_018441 VAR_018441 disease phenotype-associated VAR_018441 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] VAR_018442 commonName VAR_018442 VAR_018442 disease phenotype-associated VAR_018442 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] VAR_018443 commonName VAR_018443 VAR_018443 disease phenotype-associated VAR_018443 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] VAR_018444 commonName VAR_018444 VAR_018444 disease phenotype-associated VAR_018444 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] VAR_018445 commonName VAR_018445 VAR_018445 disease phenotype-associated VAR_018445 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] VAR_018446 commonName VAR_018446 VAR_018446 disease phenotype-associated VAR_018446 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] VAR_018447 commonName VAR_018447 VAR_018447 disease phenotype-associated VAR_018447 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] VAR_018448 commonName VAR_018448 VAR_018448 disease not phenotype-associated VAR_018449 commonName VAR_018449 VAR_018449 disease not phenotype-associated VAR_018450 commonName VAR_018450 VAR_018450 disease not phenotype-associated VAR_018451 commonName VAR_018451 VAR_018451 disease not phenotype-associated VAR_018454 commonName VAR_018454 VAR_018454 disease not phenotype-associated VAR_018455 commonName VAR_018455 VAR_018455 disease not phenotype-associated VAR_018456 commonName VAR_018456 VAR_018456 disease not phenotype-associated VAR_018457 commonName VAR_018457 VAR_018457 disease not phenotype-associated VAR_018458 commonName VAR_018458 VAR_018458 disease not phenotype-associated VAR_018459 commonName VAR_018459 VAR_018459 disease not phenotype-associated VAR_018460 commonName VAR_018460 VAR_018460 disease not phenotype-associated VAR_018461 commonName VAR_018461 VAR_018461 disease not phenotype-associated VAR_018462 commonName VAR_018462 VAR_018462 disease not phenotype-associated VAR_018464 commonName VAR_018464 VAR_018464 disease phenotype-associated VAR_018464 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200] VAR_018465 commonName VAR_018465 VAR_018465 disease phenotype-associated VAR_018465 phenoCommon Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813] VAR_018468 commonName VAR_018468 VAR_018468 disease not phenotype-associated VAR_018469 commonName VAR_018469 VAR_018469 disease not phenotype-associated VAR_018471 commonName VAR_018471 VAR_018471 disease phenotype-associated VAR_018471 phenoCommon Corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency) [MIM:610600] VAR_018472 commonName VAR_018472 VAR_018472 disease phenotype-associated VAR_018472 phenoCommon Corticosterone methyloxidase type 1 deficiency (CMO-1 deficiency) [MIM:203400] VAR_018473 commonName VAR_018473 VAR_018473 disease phenotype-associated VAR_018473 phenoCommon Corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency) [MIM:610600] VAR_018474 commonName VAR_018474 VAR_018474 disease not phenotype-associated VAR_018475 commonName VAR_018475 VAR_018475 disease not phenotype-associated VAR_018476 commonName VAR_018476 VAR_018476 disease not phenotype-associated VAR_018477 commonName VAR_018477 VAR_018477 disease not phenotype-associated VAR_018478 commonName VAR_018478 VAR_018478 disease not phenotype-associated VAR_018479 commonName VAR_018479 VAR_018479 disease not phenotype-associated VAR_018480 commonName VAR_018480 VAR_018480 disease not phenotype-associated VAR_018481 commonName VAR_018481 VAR_018481 disease not phenotype-associated VAR_018482 commonName VAR_018482 VAR_018482 disease not phenotype-associated VAR_018483 commonName VAR_018483 VAR_018483 disease phenotype-associated VAR_018483 phenoCommon Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569] VAR_018490 commonName VAR_018490 VAR_018490 disease not phenotype-associated VAR_018491 commonName VAR_018491 VAR_018491 disease not phenotype-associated VAR_018492 commonName VAR_018492 VAR_018492 disease not phenotype-associated VAR_018493 commonName VAR_018493 VAR_018493 disease not phenotype-associated VAR_018494 commonName VAR_018494 VAR_018494 disease not phenotype-associated VAR_018495 commonName VAR_018495 VAR_018495 disease not phenotype-associated VAR_018499 commonName VAR_018499 VAR_018499 disease not phenotype-associated VAR_018500 commonName VAR_018500 VAR_018500 disease not phenotype-associated VAR_018501 commonName VAR_018501 VAR_018501 disease not phenotype-associated VAR_018502 commonName VAR_018502 VAR_018502 disease not phenotype-associated VAR_018503 commonName VAR_018503 VAR_018503 disease not phenotype-associated VAR_018504 commonName VAR_018504 VAR_018504 disease phenotype-associated VAR_018504 phenoCommon Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590] VAR_018505 commonName VAR_018505 VAR_018505 disease phenotype-associated VAR_018505 phenoCommon Charcot-Marie-Tooth disease type 2L (CMT2L) [MIM:608673] VAR_018505 phenoCommon Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590] VAR_018506 commonName VAR_018506 VAR_018506 disease phenotype-associated VAR_018506 phenoCommon Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634] VAR_018507 commonName VAR_018507 VAR_018507 disease phenotype-associated VAR_018507 phenoCommon Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595] VAR_018507 phenoCommon Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634] VAR_018508 commonName VAR_018508 VAR_018508 disease phenotype-associated VAR_018508 phenoCommon Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595] VAR_018509 commonName VAR_018509 VAR_018509 disease phenotype-associated VAR_018509 phenoCommon Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634] VAR_018510 commonName VAR_018510 VAR_018510 disease phenotype-associated VAR_018510 phenoCommon Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634] VAR_018511 commonName VAR_018511 VAR_018511 disease phenotype-associated VAR_018511 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] VAR_018512 commonName VAR_018512 VAR_018512 disease phenotype-associated VAR_018512 phenoCommon Lung cancer (LNCR) [MIM:211980] VAR_018513 commonName VAR_018513 VAR_018513 disease phenotype-associated VAR_018513 phenoCommon Lung cancer (LNCR) [MIM:211980] VAR_018514 commonName VAR_018514 VAR_018514 disease phenotype-associated VAR_018514 phenoCommon Arterial calcification of infancy, generalized, type 1 (GACI1) [MIM:208000] VAR_018515 commonName VAR_018515 VAR_018516 commonName VAR_018516 VAR_018516 disease not phenotype-associated VAR_018517 commonName VAR_018517 VAR_018517 disease phenotype-associated VAR_018517 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_018518 commonName VAR_018518 VAR_018518 disease phenotype-associated VAR_018518 phenoCommon Paragangliomas type 4 (PGL4) [MIM:115310] VAR_018520 commonName VAR_018520 VAR_018520 disease phenotype-associated VAR_018520 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018521 commonName VAR_018521 VAR_018521 disease not phenotype-associated VAR_018522 commonName VAR_018522 VAR_018522 disease phenotype-associated VAR_018522 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018523 commonName VAR_018523 VAR_018523 disease phenotype-associated VAR_018523 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018524 commonName VAR_018524 VAR_018524 disease phenotype-associated VAR_018524 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018526 commonName VAR_018526 VAR_018526 disease not phenotype-associated VAR_018527 commonName VAR_018527 VAR_018527 disease phenotype-associated VAR_018527 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018528 commonName VAR_018528 VAR_018528 disease phenotype-associated VAR_018528 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018529 commonName VAR_018529 VAR_018529 disease not phenotype-associated VAR_018530 commonName VAR_018530 VAR_018530 disease phenotype-associated VAR_018530 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018531 commonName VAR_018531 VAR_018531 disease not phenotype-associated VAR_018532 commonName VAR_018532 VAR_018532 disease phenotype-associated VAR_018532 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018533 commonName VAR_018533 VAR_018533 disease phenotype-associated VAR_018533 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018534 commonName VAR_018534 VAR_018534 disease not phenotype-associated VAR_018535 commonName VAR_018535 VAR_018535 disease phenotype-associated VAR_018535 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018536 commonName VAR_018536 VAR_018536 disease phenotype-associated VAR_018536 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018537 commonName VAR_018537 VAR_018537 disease phenotype-associated VAR_018537 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018538 commonName VAR_018538 VAR_018538 disease not phenotype-associated VAR_018539 commonName VAR_018539 VAR_018539 disease phenotype-associated VAR_018539 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018540 commonName VAR_018540 VAR_018540 disease phenotype-associated VAR_018540 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018541 commonName VAR_018541 VAR_018541 disease phenotype-associated VAR_018541 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018542 commonName VAR_018542 VAR_018542 disease phenotype-associated VAR_018542 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018543 commonName VAR_018543 VAR_018543 disease not phenotype-associated VAR_018544 commonName VAR_018544 VAR_018544 disease not phenotype-associated VAR_018545 commonName VAR_018545 VAR_018545 disease not phenotype-associated VAR_018546 commonName VAR_018546 VAR_018546 disease phenotype-associated VAR_018546 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018547 commonName VAR_018547 VAR_018547 disease phenotype-associated VAR_018547 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018548 commonName VAR_018548 VAR_018548 disease phenotype-associated VAR_018548 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018549 commonName VAR_018549 VAR_018549 disease phenotype-associated VAR_018549 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018550 commonName VAR_018550 VAR_018550 disease not phenotype-associated VAR_018551 commonName VAR_018551 VAR_018551 disease phenotype-associated VAR_018551 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018552 commonName VAR_018552 VAR_018552 disease phenotype-associated VAR_018552 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018553 commonName VAR_018553 VAR_018553 disease phenotype-associated VAR_018553 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018554 commonName VAR_018554 VAR_018554 disease phenotype-associated VAR_018554 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018555 commonName VAR_018555 VAR_018555 disease phenotype-associated VAR_018555 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018556 commonName VAR_018556 VAR_018556 disease not phenotype-associated VAR_018557 commonName VAR_018557 VAR_018557 disease phenotype-associated VAR_018557 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018558 commonName VAR_018558 VAR_018558 disease phenotype-associated VAR_018558 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018559 commonName VAR_018559 VAR_018559 disease phenotype-associated VAR_018559 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018560 commonName VAR_018560 VAR_018560 disease phenotype-associated VAR_018560 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018561 commonName VAR_018561 VAR_018561 disease phenotype-associated VAR_018561 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018562 commonName VAR_018562 VAR_018562 disease phenotype-associated VAR_018562 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018563 commonName VAR_018563 VAR_018563 disease phenotype-associated VAR_018563 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018564 commonName VAR_018564 VAR_018564 disease not phenotype-associated VAR_018565 commonName VAR_018565 VAR_018565 disease phenotype-associated VAR_018565 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018566 commonName VAR_018566 VAR_018566 disease phenotype-associated VAR_018566 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018567 commonName VAR_018567 VAR_018567 disease phenotype-associated VAR_018567 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018568 commonName VAR_018568 VAR_018568 disease phenotype-associated VAR_018568 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018569 commonName VAR_018569 VAR_018569 disease phenotype-associated VAR_018569 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018570 commonName VAR_018570 VAR_018570 disease phenotype-associated VAR_018570 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018571 commonName VAR_018571 VAR_018571 disease not phenotype-associated VAR_018572 commonName VAR_018572 VAR_018572 disease phenotype-associated VAR_018572 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018573 commonName VAR_018573 VAR_018573 disease phenotype-associated VAR_018573 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018574 commonName VAR_018574 VAR_018574 disease phenotype-associated VAR_018574 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018575 commonName VAR_018575 VAR_018575 disease not phenotype-associated VAR_018576 commonName VAR_018576 VAR_018576 disease phenotype-associated VAR_018576 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018577 commonName VAR_018577 VAR_018577 disease not phenotype-associated VAR_018578 commonName VAR_018578 VAR_018578 disease not phenotype-associated VAR_018579 commonName VAR_018579 VAR_018579 disease phenotype-associated VAR_018579 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018580 commonName VAR_018580 VAR_018580 disease not phenotype-associated VAR_018581 commonName VAR_018581 VAR_018581 disease phenotype-associated VAR_018581 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018582 commonName VAR_018582 VAR_018582 disease phenotype-associated VAR_018582 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018583 commonName VAR_018583 VAR_018583 disease phenotype-associated VAR_018583 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018584 commonName VAR_018584 VAR_018584 disease phenotype-associated VAR_018584 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018585 commonName VAR_018585 VAR_018585 disease not phenotype-associated VAR_018586 commonName VAR_018586 VAR_018586 disease phenotype-associated VAR_018586 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018587 commonName VAR_018587 VAR_018587 disease phenotype-associated VAR_018587 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018588 commonName VAR_018588 VAR_018588 disease not phenotype-associated VAR_018589 commonName VAR_018589 VAR_018589 disease phenotype-associated VAR_018589 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018590 commonName VAR_018590 VAR_018590 disease phenotype-associated VAR_018590 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018591 commonName VAR_018591 VAR_018591 disease phenotype-associated VAR_018591 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018592 commonName VAR_018592 VAR_018592 disease phenotype-associated VAR_018592 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018593 commonName VAR_018593 VAR_018593 disease not phenotype-associated VAR_018594 commonName VAR_018594 VAR_018594 disease phenotype-associated VAR_018594 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018595 commonName VAR_018595 VAR_018595 disease not phenotype-associated VAR_018596 commonName VAR_018596 VAR_018596 disease phenotype-associated VAR_018596 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018597 commonName VAR_018597 VAR_018597 disease phenotype-associated VAR_018597 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_018598 commonName VAR_018598 VAR_018598 disease not phenotype-associated VAR_018599 commonName VAR_018599 VAR_018599 disease not phenotype-associated VAR_018600 commonName VAR_018600 VAR_018600 disease not phenotype-associated VAR_018601 commonName VAR_018601 VAR_018601 disease not phenotype-associated VAR_018602 commonName VAR_018602 VAR_018602 disease not phenotype-associated VAR_018603 commonName VAR_018603 VAR_018603 disease phenotype-associated VAR_018603 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_018604 commonName VAR_018604 VAR_018604 disease phenotype-associated VAR_018604 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751] VAR_018605 commonName VAR_018605 VAR_018605 disease phenotype-associated VAR_018605 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751] VAR_018606 commonName VAR_018606 VAR_018606 disease not phenotype-associated VAR_018607 commonName VAR_018607 VAR_018607 disease phenotype-associated VAR_018607 phenoCommon Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260] VAR_018608 commonName VAR_018608 VAR_018608 disease phenotype-associated VAR_018608 phenoCommon Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260] VAR_018609 commonName VAR_018609 VAR_018609 disease phenotype-associated VAR_018609 phenoCommon Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260] VAR_018610 commonName VAR_018610 VAR_018610 disease phenotype-associated VAR_018610 phenoCommon Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260] VAR_018611 commonName VAR_018611 VAR_018611 disease phenotype-associated VAR_018611 phenoCommon Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260] VAR_018612 commonName VAR_018612 VAR_018612 disease phenotype-associated VAR_018612 phenoCommon Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260] VAR_018613 commonName VAR_018613 VAR_018613 disease phenotype-associated VAR_018613 phenoCommon Colorectal cancer (CRC) [MIM:114500] VAR_018614 commonName VAR_018614 VAR_018614 disease phenotype-associated VAR_018614 phenoCommon Colorectal cancer (CRC) [MIM:114500] VAR_018615 commonName VAR_018615 VAR_018615 disease phenotype-associated VAR_018615 phenoCommon Colorectal cancer (CRC) [MIM:114500] VAR_018616 comment A colorectal cancer cell line VAR_018616 commonName VAR_018616 VAR_018617 comment Melanoma VAR_018617 commonName VAR_018617 VAR_018618 comment Melanoma VAR_018618 commonName VAR_018618 VAR_018619 commonName VAR_018619 VAR_018619 disease phenotype-associated VAR_018619 phenoCommon Refsum disease (RD) [MIM:266500] VAR_018620 commonName VAR_018620 VAR_018620 disease phenotype-associated VAR_018620 phenoCommon Non-Hodgkin lymphoma (NHL) [MIM:605027] VAR_018621 commonName VAR_018621 VAR_018621 disease phenotype-associated VAR_018621 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] VAR_018622 commonName VAR_018622 VAR_018622 disease phenotype-associated VAR_018622 phenoCommon Non-Hodgkin lymphoma (NHL) [MIM:605027] VAR_018623 comment Ovarian cancer VAR_018623 commonName VAR_018623 VAR_018624 commonName VAR_018624 VAR_018624 disease phenotype-associated VAR_018624 phenoCommon Non-Hodgkin lymphoma (NHL) [MIM:605027] VAR_018625 comment Colon cancer VAR_018625 commonName VAR_018625 VAR_018625 disease phenotype-associated VAR_018625 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] VAR_018626 comment A colorectal adenocarcinoma sample VAR_018626 commonName VAR_018626 VAR_018627 commonName VAR_018627 VAR_018627 disease phenotype-associated VAR_018627 phenoCommon Noonan syndrome type 7 (NS7) [MIM:613706] VAR_018628 comment A melanoma cell line VAR_018628 commonName VAR_018628 VAR_018629 comment Sarcoma VAR_018629 commonName VAR_018629 VAR_018630 commonName VAR_018630 VAR_018630 disease phenotype-associated VAR_018630 phenoCommon Colorectal cancer (CRC) [MIM:114500] VAR_018631 commonName VAR_018631 VAR_018631 disease phenotype-associated VAR_018631 phenoCommon Refsum disease (RD) [MIM:266500] VAR_018633 commonName VAR_018633 VAR_018633 disease not phenotype-associated VAR_018634 commonName VAR_018634 VAR_018634 disease not phenotype-associated VAR_018635 commonName VAR_018635 VAR_018635 disease not phenotype-associated VAR_018636 commonName VAR_018636 VAR_018636 disease not phenotype-associated VAR_018637 commonName VAR_018637 VAR_018637 disease not phenotype-associated VAR_018638 commonName VAR_018638 VAR_018638 disease not phenotype-associated VAR_018639 commonName VAR_018639 VAR_018639 disease not phenotype-associated VAR_018640 commonName VAR_018640 VAR_018640 disease not phenotype-associated VAR_018641 commonName VAR_018641 VAR_018641 disease not phenotype-associated VAR_018647 commonName VAR_018647 VAR_018647 disease phenotype-associated VAR_018647 phenoCommon Infantile Refsum disease (IRD) [MIM:266510] VAR_018648 commonName VAR_018648 VAR_018648 disease phenotype-associated VAR_018648 phenoCommon Zellweger syndrome (ZWS) [MIM:214100] VAR_018649 commonName VAR_018649 VAR_018649 disease phenotype-associated VAR_018649 phenoCommon Adrenoleukodystrophy neonatal (NALD) [MIM:202370] VAR_018650 commonName VAR_018650 VAR_018651 commonName VAR_018651 VAR_018651 disease phenotype-associated VAR_018651 phenoCommon Fanconi-Bickel syndrome (FBS) [MIM:227810] VAR_018654 commonName VAR_018654 VAR_018655 commonName VAR_018655 VAR_018655 disease phenotype-associated VAR_018655 phenoCommon Multiple epiphyseal dysplasia type 4 (EDM4) [MIM:226900] VAR_018656 commonName VAR_018656 VAR_018656 disease phenotype-associated VAR_018656 phenoCommon Leigh syndrome French-Canadian type (LSFC) [MIM:220111] VAR_018657 commonName VAR_018657 VAR_018657 disease phenotype-associated VAR_018657 phenoCommon Plasminogen deficiency (PLGD) [MIM:217090] VAR_018658 commonName VAR_018658 VAR_018658 disease phenotype-associated VAR_018658 phenoCommon Plasminogen deficiency (PLGD) [MIM:217090] VAR_018659 commonName VAR_018659 VAR_018659 disease phenotype-associated VAR_018659 phenoCommon Plasminogen deficiency (PLGD) [MIM:217090] VAR_018660 commonName VAR_018660 VAR_018660 disease phenotype-associated VAR_018660 phenoCommon Plasminogen deficiency (PLGD) [MIM:217090] VAR_018661 commonName VAR_018661 VAR_018661 disease phenotype-associated VAR_018661 phenoCommon Breast cancer (BC) [MIM:114480] VAR_018662 commonName VAR_018662 VAR_018662 disease not phenotype-associated VAR_018663 commonName VAR_018663 VAR_018663 disease not phenotype-associated VAR_018664 commonName VAR_018664 VAR_018664 disease not phenotype-associated VAR_018671 commonName VAR_018671 VAR_018671 disease not phenotype-associated VAR_018672 commonName VAR_018672 VAR_018672 disease not phenotype-associated VAR_018673 commonName VAR_018673 VAR_018673 disease not phenotype-associated VAR_018674 commonName VAR_018674 VAR_018674 disease not phenotype-associated VAR_018675 commonName VAR_018675 VAR_018675 disease not phenotype-associated VAR_018676 commonName VAR_018676 VAR_018676 disease not phenotype-associated VAR_018677 commonName VAR_018677 VAR_018677 disease not phenotype-associated VAR_018678 commonName VAR_018678 VAR_018678 disease not phenotype-associated VAR_018679 commonName VAR_018679 VAR_018679 disease not phenotype-associated VAR_018680 commonName VAR_018680 VAR_018680 disease not phenotype-associated VAR_018681 commonName VAR_018681 VAR_018681 disease not phenotype-associated VAR_018682 commonName VAR_018682 VAR_018682 disease not phenotype-associated VAR_018683 commonName VAR_018683 VAR_018683 disease not phenotype-associated VAR_018684 commonName VAR_018684 VAR_018684 disease phenotype-associated VAR_018684 phenoCommon Salla disease (SD) [MIM:604369] VAR_018685 commonName VAR_018685 VAR_018685 disease phenotype-associated VAR_018685 phenoCommon Salla disease (SD) [MIM:604369] VAR_018686 commonName VAR_018686 VAR_018686 disease phenotype-associated VAR_018686 phenoCommon Infantile sialic acid storage disorder (ISSD) [MIM:269920] VAR_018688 commonName VAR_018688 VAR_018688 disease phenotype-associated VAR_018688 phenoCommon Infantile sialic acid storage disorder (ISSD) [MIM:269920] VAR_018689 commonName VAR_018689 VAR_018689 disease phenotype-associated VAR_018689 phenoCommon Infantile sialic acid storage disorder (ISSD) [MIM:269920] VAR_018690 commonName VAR_018690 VAR_018690 disease not phenotype-associated VAR_018691 commonName VAR_018691 VAR_018691 disease phenotype-associated VAR_018691 phenoCommon Lipoid proteinosis (LiP) [MIM:247100] VAR_018718 commonName VAR_018718 VAR_018718 disease phenotype-associated VAR_018718 phenoCommon Charcot-Marie-Tooth disease type 2D (CMT2D) [MIM:601472] VAR_018719 commonName VAR_018719 VAR_018719 disease phenotype-associated VAR_018719 phenoCommon Distal spinal muscular neuropathy type 5 (HMN5) [MIM:600794] VAR_018720 commonName VAR_018720 VAR_018720 disease phenotype-associated VAR_018720 phenoCommon Charcot-Marie-Tooth disease type 2D (CMT2D) [MIM:601472] VAR_018721 commonName VAR_018721 VAR_018721 disease phenotype-associated VAR_018721 phenoCommon Distal spinal muscular neuropathy type 5 (HMN5) [MIM:600794] VAR_018722 commonName VAR_018722 VAR_018722 disease phenotype-associated VAR_018722 phenoCommon Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882] VAR_018723 commonName VAR_018723 VAR_018723 disease phenotype-associated VAR_018723 phenoCommon Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882] VAR_018724 commonName VAR_018724 VAR_018724 disease phenotype-associated VAR_018724 phenoCommon Griscelli syndrome type 3 (GS3) [MIM:609227] VAR_018725 commonName VAR_018725 VAR_018725 disease phenotype-associated VAR_018725 phenoCommon Limb-girdle muscular dystrophy type 2H (LGMD2H) [MIM:254110] VAR_018727 commonName VAR_018727 VAR_018727 disease phenotype-associated VAR_018727 phenoCommon Mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370] VAR_018728 commonName VAR_018728 VAR_018728 disease phenotype-associated VAR_018728 phenoCommon Growth hormone insensitivity with immunodeficiency (GHII) [MIM:245590] VAR_018729 commonName VAR_018729 VAR_018729 disease not phenotype-associated VAR_018730 commonName VAR_018730 VAR_018730 disease not phenotype-associated VAR_018731 commonName VAR_018731 VAR_018731 disease not phenotype-associated VAR_018732 commonName VAR_018732 VAR_018732 disease not phenotype-associated VAR_018733 commonName VAR_018733 VAR_018733 disease not phenotype-associated VAR_018734 commonName VAR_018734 VAR_018734 disease not phenotype-associated VAR_018738 commonName VAR_018738 VAR_018738 disease not phenotype-associated VAR_018739 commonName VAR_018739 VAR_018739 disease not phenotype-associated VAR_018740 commonName VAR_018740 VAR_018740 disease not phenotype-associated VAR_018741 commonName VAR_018741 VAR_018742 commonName VAR_018742 VAR_018742 disease not phenotype-associated VAR_018743 commonName VAR_018743 VAR_018743 disease not phenotype-associated VAR_018744 commonName VAR_018744 VAR_018744 disease not phenotype-associated VAR_018745 commonName VAR_018745 VAR_018745 disease not phenotype-associated VAR_018746 commonName VAR_018746 VAR_018746 disease not phenotype-associated VAR_018747 commonName VAR_018747 VAR_018747 disease not phenotype-associated VAR_018748 commonName VAR_018748 VAR_018748 disease not phenotype-associated VAR_018749 commonName VAR_018749 VAR_018749 disease not phenotype-associated VAR_018750 commonName VAR_018750 VAR_018750 disease not phenotype-associated VAR_018751 commonName VAR_018751 VAR_018751 disease not phenotype-associated VAR_018752 commonName VAR_018752 VAR_018752 disease not phenotype-associated VAR_018753 commonName VAR_018753 VAR_018753 disease not phenotype-associated VAR_018754 commonName VAR_018754 VAR_018754 disease not phenotype-associated VAR_018755 commonName VAR_018755 VAR_018755 disease not phenotype-associated VAR_018756 commonName VAR_018756 VAR_018756 disease not phenotype-associated VAR_018757 commonName VAR_018757 VAR_018757 disease not phenotype-associated VAR_018758 commonName VAR_018758 VAR_018758 disease not phenotype-associated VAR_018759 commonName VAR_018759 VAR_018759 disease not phenotype-associated VAR_018760 commonName VAR_018760 VAR_018760 disease not phenotype-associated VAR_018761 commonName VAR_018761 VAR_018761 disease not phenotype-associated VAR_018762 commonName VAR_018762 VAR_018762 disease not phenotype-associated VAR_018763 commonName VAR_018763 VAR_018763 disease not phenotype-associated VAR_018764 commonName VAR_018764 VAR_018764 disease not phenotype-associated VAR_018765 commonName VAR_018765 VAR_018765 disease not phenotype-associated VAR_018766 commonName VAR_018766 VAR_018766 disease not phenotype-associated VAR_018767 commonName VAR_018767 VAR_018767 disease not phenotype-associated VAR_018768 commonName VAR_018768 VAR_018768 disease not phenotype-associated VAR_018771 commonName VAR_018771 VAR_018771 disease phenotype-associated VAR_018771 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419] VAR_018772 commonName VAR_018772 VAR_018772 disease phenotype-associated VAR_018772 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419] VAR_018773 commonName VAR_018773 VAR_018773 disease phenotype-associated VAR_018773 phenoCommon Cardiomyopathy dilated type 1I (CMD1I) [MIM:604765] VAR_018773 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419] VAR_018774 commonName VAR_018774 VAR_018774 disease phenotype-associated VAR_018774 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_018774 phenoCommon Primary open angle glaucoma (POAG) [MIM:137760] VAR_018776 commonName VAR_018776 VAR_018776 disease phenotype-associated VAR_018776 phenoCommon Amyotrophic lateral sclerosis type 4 (ALS4) [MIM:602433] VAR_018777 commonName VAR_018777 VAR_018777 disease phenotype-associated VAR_018777 phenoCommon Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002] VAR_018778 commonName VAR_018778 VAR_018778 disease phenotype-associated VAR_018778 phenoCommon Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002] VAR_018779 commonName VAR_018779 VAR_018779 disease phenotype-associated VAR_018779 phenoCommon Amyotrophic lateral sclerosis type 4 (ALS4) [MIM:602433] VAR_018780 commonName VAR_018780 VAR_018780 disease phenotype-associated VAR_018780 phenoCommon Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002] VAR_018781 commonName VAR_018781 VAR_018781 disease not phenotype-associated VAR_018782 commonName VAR_018782 VAR_018782 disease not phenotype-associated VAR_018783 commonName VAR_018783 VAR_018783 disease not phenotype-associated VAR_018784 commonName VAR_018784 VAR_018784 disease not phenotype-associated VAR_018785 commonName VAR_018785 VAR_018785 disease not phenotype-associated VAR_018786 commonName VAR_018786 VAR_018786 disease not phenotype-associated VAR_018787 commonName VAR_018787 VAR_018787 disease not phenotype-associated VAR_018788 commonName VAR_018788 VAR_018788 disease phenotype-associated VAR_018788 phenoCommon Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002] VAR_018789 commonName VAR_018789 VAR_018789 disease not phenotype-associated VAR_018790 commonName VAR_018790 VAR_018790 disease phenotype-associated VAR_018790 phenoCommon Amyotrophic lateral sclerosis type 4 (ALS4) [MIM:602433] VAR_018791 commonName VAR_018791 VAR_018791 disease phenotype-associated VAR_018791 phenoCommon Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002] VAR_018792 commonName VAR_018792 VAR_018792 disease not phenotype-associated VAR_018793 commonName VAR_018793 VAR_018793 disease not phenotype-associated VAR_018794 commonName VAR_018794 VAR_018794 disease phenotype-associated VAR_018794 phenoCommon Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] VAR_018795 commonName VAR_018795 VAR_018795 disease phenotype-associated VAR_018795 phenoCommon Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] VAR_018796 commonName VAR_018796 VAR_018796 disease phenotype-associated VAR_018796 phenoCommon Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] VAR_018797 commonName VAR_018797 VAR_018797 disease phenotype-associated VAR_018797 phenoCommon Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] VAR_018798 commonName VAR_018798 VAR_018798 disease phenotype-associated VAR_018798 phenoCommon Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] VAR_018802 commonName VAR_018802 VAR_018802 disease not phenotype-associated VAR_018803 commonName VAR_018803 VAR_018803 disease not phenotype-associated VAR_018804 commonName VAR_018804 VAR_018804 disease not phenotype-associated VAR_018805 commonName VAR_018805 VAR_018805 disease not phenotype-associated VAR_018808 commonName VAR_018808 VAR_018808 disease not phenotype-associated VAR_018809 commonName VAR_018809 VAR_018809 disease not phenotype-associated VAR_018810 commonName VAR_018810 VAR_018810 disease not phenotype-associated VAR_018816 commonName VAR_018816 VAR_018816 disease not phenotype-associated VAR_018817 commonName VAR_018817 VAR_018817 disease not phenotype-associated VAR_018818 commonName VAR_018818 VAR_018818 disease not phenotype-associated VAR_018819 commonName VAR_018819 VAR_018819 disease not phenotype-associated VAR_018820 commonName VAR_018820 VAR_018820 disease not phenotype-associated VAR_018821 commonName VAR_018821 VAR_018821 disease not phenotype-associated VAR_018822 commonName VAR_018822 VAR_018822 disease not phenotype-associated VAR_018823 commonName VAR_018823 VAR_018823 disease not phenotype-associated VAR_018824 commonName VAR_018824 VAR_018824 disease not phenotype-associated VAR_018825 commonName VAR_018825 VAR_018825 disease not phenotype-associated VAR_018826 commonName VAR_018826 VAR_018826 disease not phenotype-associated VAR_018827 commonName VAR_018827 VAR_018827 disease not phenotype-associated VAR_018828 commonName VAR_018828 VAR_018828 disease not phenotype-associated VAR_018829 commonName VAR_018829 VAR_018829 disease not phenotype-associated VAR_018830 commonName VAR_018830 VAR_018830 disease not phenotype-associated VAR_018831 commonName VAR_018831 VAR_018831 disease not phenotype-associated VAR_018832 commonName VAR_018832 VAR_018832 disease not phenotype-associated VAR_018833 commonName VAR_018833 VAR_018833 disease not phenotype-associated VAR_018834 commonName VAR_018834 VAR_018834 disease not phenotype-associated VAR_018835 commonName VAR_018835 VAR_018835 disease not phenotype-associated VAR_018836 commonName VAR_018836 VAR_018836 disease not phenotype-associated VAR_018838 commonName VAR_018838 VAR_018838 disease not phenotype-associated VAR_018840 commonName VAR_018840 VAR_018840 disease not phenotype-associated VAR_018841 commonName VAR_018841 VAR_018841 disease not phenotype-associated VAR_018842 commonName VAR_018842 VAR_018842 disease not phenotype-associated VAR_018843 commonName VAR_018843 VAR_018843 disease not phenotype-associated VAR_018844 commonName VAR_018844 VAR_018844 disease not phenotype-associated VAR_018845 commonName VAR_018845 VAR_018845 disease not phenotype-associated VAR_018846 commonName VAR_018846 VAR_018846 disease not phenotype-associated VAR_018847 commonName VAR_018847 VAR_018847 disease not phenotype-associated VAR_018848 commonName VAR_018848 VAR_018848 disease not phenotype-associated VAR_018849 commonName VAR_018849 VAR_018849 disease not phenotype-associated VAR_018850 commonName VAR_018850 VAR_018850 disease not phenotype-associated VAR_018851 commonName VAR_018851 VAR_018851 disease not phenotype-associated VAR_018852 commonName VAR_018852 VAR_018852 disease not phenotype-associated VAR_018855 commonName VAR_018855 VAR_018855 disease not phenotype-associated VAR_018856 commonName VAR_018856 VAR_018856 disease not phenotype-associated VAR_018857 commonName VAR_018857 VAR_018857 disease not phenotype-associated VAR_018858 commonName VAR_018858 VAR_018858 disease not phenotype-associated VAR_018859 commonName VAR_018859 VAR_018859 disease not phenotype-associated VAR_018860 commonName VAR_018860 VAR_018860 disease not phenotype-associated VAR_018861 commonName VAR_018861 VAR_018861 disease not phenotype-associated VAR_018862 commonName VAR_018862 VAR_018862 disease not phenotype-associated VAR_018863 commonName VAR_018863 VAR_018863 disease not phenotype-associated VAR_018864 commonName VAR_018864 VAR_018864 disease not phenotype-associated VAR_018865 commonName VAR_018865 VAR_018865 disease not phenotype-associated VAR_018866 commonName VAR_018866 VAR_018866 disease not phenotype-associated VAR_018867 commonName VAR_018867 VAR_018867 disease not phenotype-associated VAR_018868 commonName VAR_018868 VAR_018868 disease not phenotype-associated VAR_018869 commonName VAR_018869 VAR_018869 disease not phenotype-associated VAR_018870 commonName VAR_018870 VAR_018870 disease not phenotype-associated VAR_018871 commonName VAR_018871 VAR_018871 disease not phenotype-associated VAR_018872 commonName VAR_018872 VAR_018872 disease not phenotype-associated VAR_018873 commonName VAR_018873 VAR_018873 disease phenotype-associated VAR_018873 phenoCommon Familial adenomatous polyposis type 2 (FAP2) [MIM:608456] VAR_018874 commonName VAR_018874 VAR_018874 disease not phenotype-associated VAR_018875 commonName VAR_018875 VAR_018875 disease phenotype-associated VAR_018875 phenoCommon Familial adenomatous polyposis type 2 (FAP2) [MIM:608456] VAR_018879 commonName VAR_018879 VAR_018879 disease not phenotype-associated VAR_018880 commonName VAR_018880 VAR_018880 disease not phenotype-associated VAR_018882 commonName VAR_018882 VAR_018882 disease not phenotype-associated VAR_018883 commonName VAR_018883 VAR_018883 disease not phenotype-associated VAR_018884 commonName VAR_018884 VAR_018884 disease not phenotype-associated VAR_018885 commonName VAR_018885 VAR_018885 disease not phenotype-associated VAR_018886 commonName VAR_018886 VAR_018886 disease not phenotype-associated VAR_018887 commonName VAR_018887 VAR_018887 disease not phenotype-associated VAR_018888 commonName VAR_018888 VAR_018888 disease not phenotype-associated VAR_018889 commonName VAR_018889 VAR_018889 disease not phenotype-associated VAR_018890 commonName VAR_018890 VAR_018890 disease not phenotype-associated VAR_018891 commonName VAR_018891 VAR_018891 disease not phenotype-associated VAR_018892 commonName VAR_018892 VAR_018892 disease not phenotype-associated VAR_018894 commonName VAR_018894 VAR_018894 disease not phenotype-associated VAR_018895 commonName VAR_018895 VAR_018895 disease not phenotype-associated VAR_018896 commonName VAR_018896 VAR_018896 disease not phenotype-associated VAR_018897 commonName VAR_018897 VAR_018897 disease not phenotype-associated VAR_018898 commonName VAR_018898 VAR_018898 disease not phenotype-associated VAR_018899 commonName VAR_018899 VAR_018899 disease not phenotype-associated VAR_018900 commonName VAR_018900 VAR_018900 disease not phenotype-associated VAR_018901 commonName VAR_018901 VAR_018901 disease not phenotype-associated VAR_018902 commonName VAR_018902 VAR_018902 disease not phenotype-associated VAR_018903 commonName VAR_018903 VAR_018903 disease not phenotype-associated VAR_018905 commonName VAR_018905 VAR_018905 disease not phenotype-associated VAR_018906 commonName VAR_018906 VAR_018906 disease not phenotype-associated VAR_018907 commonName VAR_018907 VAR_018907 disease not phenotype-associated VAR_018908 commonName VAR_018908 VAR_018908 disease not phenotype-associated VAR_018909 commonName VAR_018909 VAR_018909 disease not phenotype-associated VAR_018910 commonName VAR_018910 VAR_018910 disease not phenotype-associated VAR_018911 commonName VAR_018911 VAR_018911 disease not phenotype-associated VAR_018912 commonName VAR_018912 VAR_018912 disease not phenotype-associated VAR_018913 commonName VAR_018913 VAR_018913 disease not phenotype-associated VAR_018914 commonName VAR_018914 VAR_018914 disease not phenotype-associated VAR_018915 commonName VAR_018915 VAR_018915 disease not phenotype-associated VAR_018916 commonName VAR_018916 VAR_018916 disease not phenotype-associated VAR_018917 commonName VAR_018917 VAR_018917 disease not phenotype-associated VAR_018918 commonName VAR_018918 VAR_018918 disease not phenotype-associated VAR_018919 commonName VAR_018919 VAR_018919 disease not phenotype-associated VAR_018920 commonName VAR_018920 VAR_018920 disease not phenotype-associated VAR_018921 commonName VAR_018921 VAR_018921 disease not phenotype-associated VAR_018922 commonName VAR_018922 VAR_018922 disease not phenotype-associated VAR_018923 commonName VAR_018923 VAR_018923 disease not phenotype-associated VAR_018924 commonName VAR_018924 VAR_018924 disease not phenotype-associated VAR_018925 commonName VAR_018925 VAR_018925 disease not phenotype-associated VAR_018926 commonName VAR_018926 VAR_018926 disease not phenotype-associated VAR_018927 commonName VAR_018927 VAR_018927 disease not phenotype-associated VAR_018928 commonName VAR_018928 VAR_018928 disease not phenotype-associated VAR_018929 commonName VAR_018929 VAR_018929 disease not phenotype-associated VAR_018930 commonName VAR_018930 VAR_018930 disease not phenotype-associated VAR_018931 commonName VAR_018931 VAR_018931 disease not phenotype-associated VAR_018932 commonName VAR_018932 VAR_018932 disease not phenotype-associated VAR_018933 commonName VAR_018933 VAR_018933 disease not phenotype-associated VAR_018934 commonName VAR_018934 VAR_018934 disease not phenotype-associated VAR_018935 commonName VAR_018935 VAR_018935 disease not phenotype-associated VAR_018936 commonName VAR_018936 VAR_018936 disease not phenotype-associated VAR_018937 commonName VAR_018937 VAR_018937 disease not phenotype-associated VAR_018941 commonName VAR_018941 VAR_018941 disease not phenotype-associated VAR_018942 commonName VAR_018942 VAR_018942 disease not phenotype-associated VAR_018943 commonName VAR_018943 VAR_018943 disease not phenotype-associated VAR_018944 commonName VAR_018944 VAR_018944 disease not phenotype-associated VAR_018948 commonName VAR_018948 VAR_018948 disease not phenotype-associated VAR_018949 commonName VAR_018949 VAR_018949 disease not phenotype-associated VAR_018950 commonName VAR_018950 VAR_018950 disease not phenotype-associated VAR_018951 commonName VAR_018951 VAR_018951 disease not phenotype-associated VAR_018952 commonName VAR_018952 VAR_018952 disease not phenotype-associated VAR_018953 commonName VAR_018953 VAR_018953 disease not phenotype-associated VAR_018954 commonName VAR_018954 VAR_018954 disease not phenotype-associated VAR_018955 commonName VAR_018955 VAR_018955 disease not phenotype-associated VAR_018956 commonName VAR_018956 VAR_018956 disease not phenotype-associated VAR_018957 commonName VAR_018957 VAR_018957 disease not phenotype-associated VAR_018958 commonName VAR_018958 VAR_018958 disease not phenotype-associated VAR_018959 commonName VAR_018959 VAR_018959 disease not phenotype-associated VAR_018960 commonName VAR_018960 VAR_018960 disease not phenotype-associated VAR_018961 commonName VAR_018961 VAR_018961 disease not phenotype-associated VAR_018962 commonName VAR_018962 VAR_018962 disease not phenotype-associated VAR_018963 commonName VAR_018963 VAR_018963 disease not phenotype-associated VAR_018964 commonName VAR_018964 VAR_018964 disease not phenotype-associated VAR_018965 commonName VAR_018965 VAR_018965 disease not phenotype-associated VAR_018966 commonName VAR_018966 VAR_018966 disease phenotype-associated VAR_018966 phenoCommon Type IIb congenital disorder of glycosylation (CDGIIb) [MIM:606056] VAR_018968 commonName VAR_018968 VAR_018968 disease not phenotype-associated VAR_018969 commonName VAR_018969 VAR_018969 disease not phenotype-associated VAR_018970 commonName VAR_018970 VAR_018970 disease phenotype-associated VAR_018970 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] VAR_018971 commonName VAR_018971 VAR_018971 disease phenotype-associated VAR_018971 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] VAR_018972 commonName VAR_018972 VAR_018972 disease not phenotype-associated VAR_018973 commonName VAR_018973 VAR_018973 disease phenotype-associated VAR_018973 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] VAR_018974 commonName VAR_018974 VAR_018974 disease phenotype-associated VAR_018974 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] VAR_018975 commonName VAR_018975 VAR_018975 disease phenotype-associated VAR_018975 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] VAR_018976 commonName VAR_018976 VAR_018976 disease phenotype-associated VAR_018976 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] VAR_018977 commonName VAR_018977 VAR_018977 disease phenotype-associated VAR_018977 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] VAR_018978 commonName VAR_018978 VAR_018978 disease not phenotype-associated VAR_018979 commonName VAR_018979 VAR_018979 disease not phenotype-associated VAR_018980 commonName VAR_018980 VAR_018980 disease not phenotype-associated VAR_018981 commonName VAR_018981 VAR_018981 disease not phenotype-associated VAR_018982 commonName VAR_018982 VAR_018982 disease not phenotype-associated VAR_018983 commonName VAR_018983 VAR_018983 disease phenotype-associated VAR_018983 phenoCommon Arthrogryposis-renal dysfunction-cholestasis syndrome type 1 (ARCS1) [MIM:208085] VAR_018984 commonName VAR_018984 VAR_018984 disease not phenotype-associated VAR_018985 commonName VAR_018985 VAR_018985 disease not phenotype-associated VAR_018986 commonName VAR_018986 VAR_018986 disease not phenotype-associated VAR_018987 commonName VAR_018987 VAR_018987 disease not phenotype-associated VAR_018988 commonName VAR_018988 VAR_018988 disease not phenotype-associated VAR_018989 commonName VAR_018989 VAR_018989 disease not phenotype-associated VAR_018990 commonName VAR_018990 VAR_018990 disease not phenotype-associated VAR_018991 commonName VAR_018991 VAR_018991 disease not phenotype-associated VAR_018992 commonName VAR_018992 VAR_018992 disease not phenotype-associated VAR_018993 commonName VAR_018993 VAR_018993 disease not phenotype-associated VAR_018994 commonName VAR_018994 VAR_018994 disease phenotype-associated VAR_018994 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909] VAR_018995 commonName VAR_018995 VAR_018995 disease not phenotype-associated VAR_018996 commonName VAR_018996 VAR_018996 disease not phenotype-associated VAR_018998 commonName VAR_018998 VAR_018998 disease phenotype-associated VAR_018998 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100] VAR_018999 commonName VAR_018999 VAR_018999 disease phenotype-associated VAR_018999 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100] VAR_019000 commonName VAR_019000 VAR_019000 disease phenotype-associated VAR_019000 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100] VAR_019001 commonName VAR_019001 VAR_019001 disease phenotype-associated VAR_019001 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100] VAR_019002 commonName VAR_019002 VAR_019002 disease phenotype-associated VAR_019002 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100] VAR_019003 commonName VAR_019003 VAR_019003 disease phenotype-associated VAR_019003 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100] VAR_019005 commonName VAR_019005 VAR_019005 disease phenotype-associated VAR_019005 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100] VAR_019007 commonName VAR_019007 VAR_019007 disease not phenotype-associated VAR_019008 commonName VAR_019008 VAR_019008 disease phenotype-associated VAR_019008 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100] VAR_019009 commonName VAR_019009 VAR_019009 disease phenotype-associated VAR_019009 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100] VAR_019011 commonName VAR_019011 VAR_019011 disease phenotype-associated VAR_019011 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100] VAR_019012 commonName VAR_019012 VAR_019012 disease phenotype-associated VAR_019012 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100] VAR_019013 commonName VAR_019013 VAR_019013 disease phenotype-associated VAR_019013 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100] VAR_019014 commonName VAR_019014 VAR_019014 disease phenotype-associated VAR_019014 phenoCommon Congenital fibrosis of extraocular muscles type 2 (CFEOM2) [MIM:602078] VAR_019016 commonName VAR_019016 VAR_019017 commonName VAR_019017 VAR_019017 disease phenotype-associated VAR_019017 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] VAR_019019 commonName VAR_019019 VAR_019019 disease phenotype-associated VAR_019019 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] VAR_019020 commonName VAR_019020 VAR_019020 disease phenotype-associated VAR_019020 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] VAR_019021 commonName VAR_019021 VAR_019021 disease phenotype-associated VAR_019021 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] VAR_019022 commonName VAR_019022 VAR_019022 disease phenotype-associated VAR_019022 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] VAR_019023 commonName VAR_019023 VAR_019023 disease phenotype-associated VAR_019023 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] VAR_019024 commonName VAR_019024 VAR_019024 disease phenotype-associated VAR_019024 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] VAR_019025 commonName VAR_019025 VAR_019025 disease phenotype-associated VAR_019025 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] VAR_019026 commonName VAR_019026 VAR_019026 disease phenotype-associated VAR_019026 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] VAR_019027 commonName VAR_019027 VAR_019027 disease phenotype-associated VAR_019027 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] VAR_019028 commonName VAR_019028 VAR_019028 disease phenotype-associated VAR_019028 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] VAR_019029 commonName VAR_019029 VAR_019029 disease phenotype-associated VAR_019029 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] VAR_019030 commonName VAR_019030 VAR_019030 disease phenotype-associated VAR_019030 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] VAR_019031 commonName VAR_019031 VAR_019031 disease phenotype-associated VAR_019031 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] VAR_019032 commonName VAR_019032 VAR_019032 disease phenotype-associated VAR_019032 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] VAR_019033 commonName VAR_019033 VAR_019033 disease phenotype-associated VAR_019033 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] VAR_019034 commonName VAR_019034 VAR_019034 disease phenotype-associated VAR_019034 phenoCommon Mucopolysaccharidosis type 6 (MPS6) [MIM:253200] VAR_019036 commonName VAR_019036 VAR_019036 disease phenotype-associated VAR_019036 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000] VAR_019037 commonName VAR_019037 VAR_019037 disease phenotype-associated VAR_019037 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000] VAR_019038 commonName VAR_019038 VAR_019038 disease phenotype-associated VAR_019038 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000] VAR_019039 commonName VAR_019039 VAR_019039 disease phenotype-associated VAR_019039 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000] VAR_019040 commonName VAR_019040 VAR_019040 disease phenotype-associated VAR_019040 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000] VAR_019041 commonName VAR_019041 VAR_019041 disease phenotype-associated VAR_019041 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000] VAR_019042 commonName VAR_019042 VAR_019042 disease phenotype-associated VAR_019042 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000] VAR_019043 commonName VAR_019043 VAR_019043 disease phenotype-associated VAR_019043 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000] VAR_019044 commonName VAR_019044 VAR_019044 disease phenotype-associated VAR_019044 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000] VAR_019045 commonName VAR_019045 VAR_019045 disease phenotype-associated VAR_019045 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000] VAR_019049 commonName VAR_019049 VAR_019049 disease not phenotype-associated VAR_019050 commonName VAR_019050 VAR_019050 disease phenotype-associated VAR_019050 phenoCommon Multiple sulfatase deficiency (MSD) [MIM:272200] VAR_019051 commonName VAR_019051 VAR_019051 disease phenotype-associated VAR_019051 phenoCommon Multiple sulfatase deficiency (MSD) [MIM:272200] VAR_019052 commonName VAR_019052 VAR_019052 disease phenotype-associated VAR_019052 phenoCommon Multiple sulfatase deficiency (MSD) [MIM:272200] VAR_019053 commonName VAR_019053 VAR_019053 disease phenotype-associated VAR_019053 phenoCommon Multiple sulfatase deficiency (MSD) [MIM:272200] VAR_019054 commonName VAR_019054 VAR_019054 disease phenotype-associated VAR_019054 phenoCommon Multiple sulfatase deficiency (MSD) [MIM:272200] VAR_019055 commonName VAR_019055 VAR_019055 disease not phenotype-associated VAR_019067 commonName VAR_019067 VAR_019067 disease phenotype-associated VAR_019067 phenoCommon Hereditary coproporphyria (HCP) [MIM:121300] VAR_019068 commonName VAR_019068 VAR_019068 disease phenotype-associated VAR_019068 phenoCommon Hereditary coproporphyria (HCP) [MIM:121300] VAR_019069 commonName VAR_019069 VAR_019069 disease phenotype-associated VAR_019069 phenoCommon Hereditary coproporphyria (HCP) [MIM:121300] VAR_019070 commonName VAR_019070 VAR_019070 disease not phenotype-associated VAR_019071 comment A breast cancer sample VAR_019071 commonName VAR_019071 VAR_019073 commonName VAR_019073 VAR_019073 disease phenotype-associated VAR_019073 phenoCommon Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313] VAR_019074 commonName VAR_019074 VAR_019074 disease phenotype-associated VAR_019074 phenoCommon Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313] VAR_019075 commonName VAR_019075 VAR_019075 disease phenotype-associated VAR_019075 phenoCommon Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313] VAR_019078 commonName VAR_019078 VAR_019078 disease not phenotype-associated VAR_019079 commonName VAR_019079 VAR_019079 disease not phenotype-associated VAR_019080 commonName VAR_019080 VAR_019080 disease not phenotype-associated VAR_019081 commonName VAR_019081 VAR_019081 disease not phenotype-associated VAR_019082 commonName VAR_019082 VAR_019082 disease not phenotype-associated VAR_019083 commonName VAR_019083 VAR_019083 disease not phenotype-associated VAR_019084 commonName VAR_019084 VAR_019084 disease not phenotype-associated VAR_019085 commonName VAR_019085 VAR_019085 disease not phenotype-associated VAR_019086 commonName VAR_019086 VAR_019086 disease not phenotype-associated VAR_019101 comment An osteogenic sarcoma sample VAR_019101 commonName VAR_019101 VAR_019102 comment An osteogenic sarcoma sample VAR_019102 commonName VAR_019102 VAR_019103 commonName VAR_019103 VAR_019103 disease phenotype-associated VAR_019103 phenoCommon Prostate cancer (PC) [MIM:176807] VAR_019104 commonName VAR_019104 VAR_019104 disease phenotype-associated VAR_019104 phenoCommon Prostate cancer (PC) [MIM:176807] VAR_019105 commonName VAR_019105 VAR_019105 disease phenotype-associated VAR_019105 phenoCommon Prostate cancer (PC) [MIM:176807] VAR_019106 commonName VAR_019106 VAR_019106 disease phenotype-associated VAR_019106 phenoCommon Prostate cancer (PC) [MIM:176807] VAR_019107 commonName VAR_019107 VAR_019107 disease phenotype-associated VAR_019107 phenoCommon Prostate cancer (PC) [MIM:176807] VAR_019108 commonName VAR_019108 VAR_019108 disease phenotype-associated VAR_019108 phenoCommon Prostate cancer (PC) [MIM:176807] VAR_019109 commonName VAR_019109 VAR_019109 disease phenotype-associated VAR_019109 phenoCommon Prostate cancer (PC) [MIM:176807] VAR_019110 commonName VAR_019110 VAR_019110 disease phenotype-associated VAR_019110 phenoCommon Prostate cancer (PC) [MIM:176807] VAR_019111 commonName VAR_019111 VAR_019111 disease phenotype-associated VAR_019111 phenoCommon Prostate cancer (PC) [MIM:176807] VAR_019112 commonName VAR_019112 VAR_019112 disease phenotype-associated VAR_019112 phenoCommon Prostate cancer (PC) [MIM:176807] VAR_019113 commonName VAR_019113 VAR_019113 disease phenotype-associated VAR_019113 phenoCommon Prostate cancer (PC) [MIM:176807] VAR_019114 commonName VAR_019114 VAR_019114 disease phenotype-associated VAR_019114 phenoCommon Prostate cancer (PC) [MIM:176807] VAR_019117 commonName VAR_019117 VAR_019117 disease not phenotype-associated VAR_019119 commonName VAR_019119 VAR_019119 disease phenotype-associated VAR_019119 phenoCommon Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313] VAR_019120 commonName VAR_019120 VAR_019120 disease phenotype-associated VAR_019120 phenoCommon Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313] VAR_019121 commonName VAR_019121 VAR_019121 disease phenotype-associated VAR_019121 phenoCommon Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313] VAR_019122 commonName VAR_019122 VAR_019122 disease phenotype-associated VAR_019122 phenoCommon Ribose 5-phosphate isomerase deficiency (RPID) [MIM:608611] VAR_019123 commonName VAR_019123 VAR_019123 disease phenotype-associated VAR_019123 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_019124 commonName VAR_019124 VAR_019124 disease phenotype-associated VAR_019124 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_019125 commonName VAR_019125 VAR_019131 commonName VAR_019131 VAR_019131 disease not phenotype-associated VAR_019132 commonName VAR_019132 VAR_019132 disease not phenotype-associated VAR_019133 commonName VAR_019133 VAR_019133 disease not phenotype-associated VAR_019134 commonName VAR_019134 VAR_019134 disease not phenotype-associated VAR_019135 commonName VAR_019135 VAR_019135 disease not phenotype-associated VAR_019136 commonName VAR_019136 VAR_019136 disease not phenotype-associated VAR_019138 commonName VAR_019138 VAR_019138 disease not phenotype-associated VAR_019139 commonName VAR_019139 VAR_019139 disease not phenotype-associated VAR_019140 commonName VAR_019140 VAR_019140 disease not phenotype-associated VAR_019141 commonName VAR_019141 VAR_019141 disease not phenotype-associated VAR_019142 commonName VAR_019142 VAR_019142 disease not phenotype-associated VAR_019143 commonName VAR_019143 VAR_019143 disease not phenotype-associated VAR_019144 commonName VAR_019144 VAR_019144 disease not phenotype-associated VAR_019145 commonName VAR_019145 VAR_019145 disease not phenotype-associated VAR_019146 commonName VAR_019146 VAR_019146 disease not phenotype-associated VAR_019147 commonName VAR_019147 VAR_019147 disease not phenotype-associated VAR_019148 commonName VAR_019148 VAR_019148 disease not phenotype-associated VAR_019149 commonName VAR_019149 VAR_019149 disease not phenotype-associated VAR_019150 commonName VAR_019150 VAR_019150 disease not phenotype-associated VAR_019151 commonName VAR_019151 VAR_019151 disease not phenotype-associated VAR_019152 commonName VAR_019152 VAR_019152 disease not phenotype-associated VAR_019155 commonName VAR_019155 VAR_019155 disease not phenotype-associated VAR_019156 commonName VAR_019156 VAR_019156 disease not phenotype-associated VAR_019157 commonName VAR_019157 VAR_019157 disease not phenotype-associated VAR_019160 commonName VAR_019160 VAR_019160 disease not phenotype-associated VAR_019161 commonName VAR_019161 VAR_019161 disease not phenotype-associated VAR_019162 commonName VAR_019162 VAR_019162 disease not phenotype-associated VAR_019163 commonName VAR_019163 VAR_019163 disease not phenotype-associated VAR_019164 commonName VAR_019164 VAR_019164 disease not phenotype-associated VAR_019165 commonName VAR_019165 VAR_019165 disease not phenotype-associated VAR_019166 commonName VAR_019166 VAR_019166 disease not phenotype-associated VAR_019167 commonName VAR_019167 VAR_019167 disease not phenotype-associated VAR_019168 commonName VAR_019168 VAR_019168 disease not phenotype-associated VAR_019169 commonName VAR_019169 VAR_019169 disease not phenotype-associated VAR_019170 commonName VAR_019170 VAR_019170 disease not phenotype-associated VAR_019171 commonName VAR_019171 VAR_019171 disease not phenotype-associated VAR_019172 commonName VAR_019172 VAR_019172 disease not phenotype-associated VAR_019173 commonName VAR_019173 VAR_019173 disease not phenotype-associated VAR_019174 commonName VAR_019174 VAR_019174 disease not phenotype-associated VAR_019175 commonName VAR_019175 VAR_019175 disease not phenotype-associated VAR_019176 commonName VAR_019176 VAR_019176 disease not phenotype-associated VAR_019177 commonName VAR_019177 VAR_019177 disease not phenotype-associated VAR_019178 commonName VAR_019178 VAR_019178 disease not phenotype-associated VAR_019179 commonName VAR_019179 VAR_019179 disease not phenotype-associated VAR_019180 commonName VAR_019180 VAR_019180 disease not phenotype-associated VAR_019181 commonName VAR_019181 VAR_019181 disease not phenotype-associated VAR_019182 commonName VAR_019182 VAR_019182 disease not phenotype-associated VAR_019183 commonName VAR_019183 VAR_019183 disease not phenotype-associated VAR_019184 commonName VAR_019184 VAR_019184 disease not phenotype-associated VAR_019185 commonName VAR_019185 VAR_019185 disease not phenotype-associated VAR_019186 commonName VAR_019186 VAR_019186 disease not phenotype-associated VAR_019187 commonName VAR_019187 VAR_019187 disease not phenotype-associated VAR_019188 commonName VAR_019188 VAR_019188 disease not phenotype-associated VAR_019189 commonName VAR_019189 VAR_019189 disease not phenotype-associated VAR_019190 commonName VAR_019190 VAR_019190 disease not phenotype-associated VAR_019191 commonName VAR_019191 VAR_019191 disease not phenotype-associated VAR_019192 commonName VAR_019192 VAR_019192 disease not phenotype-associated VAR_019193 commonName VAR_019193 VAR_019193 disease not phenotype-associated VAR_019194 commonName VAR_019194 VAR_019194 disease not phenotype-associated VAR_019195 commonName VAR_019195 VAR_019195 disease not phenotype-associated VAR_019196 commonName VAR_019196 VAR_019196 disease not phenotype-associated VAR_019197 commonName VAR_019197 VAR_019197 disease not phenotype-associated VAR_019198 commonName VAR_019198 VAR_019198 disease not phenotype-associated VAR_019199 commonName VAR_019199 VAR_019199 disease not phenotype-associated VAR_019200 commonName VAR_019200 VAR_019200 disease not phenotype-associated VAR_019202 commonName VAR_019202 VAR_019202 disease not phenotype-associated VAR_019203 commonName VAR_019203 VAR_019203 disease not phenotype-associated VAR_019204 commonName VAR_019204 VAR_019204 disease not phenotype-associated VAR_019205 commonName VAR_019205 VAR_019205 disease not phenotype-associated VAR_019206 commonName VAR_019206 VAR_019206 disease not phenotype-associated VAR_019207 commonName VAR_019207 VAR_019207 disease not phenotype-associated VAR_019208 commonName VAR_019208 VAR_019208 disease not phenotype-associated VAR_019209 commonName VAR_019209 VAR_019209 disease not phenotype-associated VAR_019210 commonName VAR_019210 VAR_019210 disease not phenotype-associated VAR_019211 commonName VAR_019211 VAR_019211 disease not phenotype-associated VAR_019212 commonName VAR_019212 VAR_019212 disease not phenotype-associated VAR_019213 commonName VAR_019213 VAR_019213 disease not phenotype-associated VAR_019218 commonName VAR_019218 VAR_019218 disease not phenotype-associated VAR_019219 commonName VAR_019219 VAR_019219 disease not phenotype-associated VAR_019220 commonName VAR_019220 VAR_019220 disease not phenotype-associated VAR_019221 commonName VAR_019221 VAR_019221 disease not phenotype-associated VAR_019222 commonName VAR_019222 VAR_019222 disease not phenotype-associated VAR_019223 commonName VAR_019223 VAR_019223 disease not phenotype-associated VAR_019224 commonName VAR_019224 VAR_019224 disease not phenotype-associated VAR_019225 commonName VAR_019225 VAR_019225 disease not phenotype-associated VAR_019226 commonName VAR_019226 VAR_019226 disease not phenotype-associated VAR_019227 commonName VAR_019227 VAR_019227 disease not phenotype-associated VAR_019228 commonName VAR_019228 VAR_019228 disease not phenotype-associated VAR_019229 commonName VAR_019229 VAR_019229 disease not phenotype-associated VAR_019230 commonName VAR_019230 VAR_019230 disease not phenotype-associated VAR_019231 commonName VAR_019231 VAR_019231 disease not phenotype-associated VAR_019232 commonName VAR_019232 VAR_019232 disease not phenotype-associated VAR_019233 commonName VAR_019233 VAR_019233 disease not phenotype-associated VAR_019234 commonName VAR_019234 VAR_019234 disease phenotype-associated VAR_019234 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_019235 commonName VAR_019235 VAR_019235 disease not phenotype-associated VAR_019236 commonName VAR_019236 VAR_019236 disease not phenotype-associated VAR_019237 commonName VAR_019237 VAR_019237 disease not phenotype-associated VAR_019238 commonName VAR_019238 VAR_019238 disease not phenotype-associated VAR_019239 commonName VAR_019239 VAR_019239 disease not phenotype-associated VAR_019240 commonName VAR_019240 VAR_019240 disease not phenotype-associated VAR_019241 commonName VAR_019241 VAR_019241 disease not phenotype-associated VAR_019242 commonName VAR_019242 VAR_019242 disease not phenotype-associated VAR_019243 commonName VAR_019243 VAR_019243 disease not phenotype-associated VAR_019244 commonName VAR_019244 VAR_019244 disease not phenotype-associated VAR_019245 commonName VAR_019245 VAR_019245 disease not phenotype-associated VAR_019246 commonName VAR_019246 VAR_019246 disease not phenotype-associated VAR_019247 commonName VAR_019247 VAR_019247 disease not phenotype-associated VAR_019248 commonName VAR_019248 VAR_019248 disease not phenotype-associated VAR_019249 commonName VAR_019249 VAR_019249 disease not phenotype-associated VAR_019250 commonName VAR_019250 VAR_019250 disease not phenotype-associated VAR_019251 commonName VAR_019251 VAR_019251 disease not phenotype-associated VAR_019252 commonName VAR_019252 VAR_019252 disease not phenotype-associated VAR_019253 commonName VAR_019253 VAR_019253 disease not phenotype-associated VAR_019254 commonName VAR_019254 VAR_019254 disease not phenotype-associated VAR_019255 commonName VAR_019255 VAR_019255 disease not phenotype-associated VAR_019256 commonName VAR_019256 VAR_019256 disease not phenotype-associated VAR_019257 commonName VAR_019257 VAR_019257 disease not phenotype-associated VAR_019258 commonName VAR_019258 VAR_019258 disease not phenotype-associated VAR_019259 commonName VAR_019259 VAR_019259 disease not phenotype-associated VAR_019260 commonName VAR_019260 VAR_019260 disease not phenotype-associated VAR_019261 commonName VAR_019261 VAR_019261 disease not phenotype-associated VAR_019262 commonName VAR_019262 VAR_019262 disease not phenotype-associated VAR_019263 commonName VAR_019263 VAR_019263 disease not phenotype-associated VAR_019267 commonName VAR_019267 VAR_019267 disease not phenotype-associated VAR_019268 commonName VAR_019268 VAR_019268 disease phenotype-associated VAR_019268 phenoCommon Aarskog-Scott syndrome (AAS) [MIM:305400] VAR_019269 commonName VAR_019269 VAR_019269 disease not phenotype-associated VAR_019270 commonName VAR_019270 VAR_019270 disease phenotype-associated VAR_019270 phenoCommon Aarskog-Scott syndrome (AAS) [MIM:305400] VAR_019271 commonName VAR_019271 VAR_019271 disease phenotype-associated VAR_019271 phenoCommon Aarskog-Scott syndrome (AAS) [MIM:305400] VAR_019272 commonName VAR_019272 VAR_019272 disease phenotype-associated VAR_019272 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] VAR_019273 commonName VAR_019273 VAR_019273 disease phenotype-associated VAR_019273 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_019274 commonName VAR_019274 VAR_019274 disease phenotype-associated VAR_019274 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_019275 commonName VAR_019275 VAR_019275 disease phenotype-associated VAR_019275 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_019276 commonName VAR_019276 VAR_019276 disease phenotype-associated VAR_019276 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_019277 commonName VAR_019277 VAR_019277 disease not phenotype-associated VAR_019278 commonName VAR_019278 VAR_019278 disease not phenotype-associated VAR_019279 commonName VAR_019279 VAR_019279 disease not phenotype-associated VAR_019280 commonName VAR_019280 VAR_019280 disease not phenotype-associated VAR_019281 commonName VAR_019281 VAR_019281 disease not phenotype-associated VAR_019282 commonName VAR_019282 VAR_019282 disease not phenotype-associated VAR_019283 commonName VAR_019283 VAR_019283 disease not phenotype-associated VAR_019284 commonName VAR_019284 VAR_019284 disease not phenotype-associated VAR_019285 commonName VAR_019285 VAR_019285 disease not phenotype-associated VAR_019286 commonName VAR_019286 VAR_019286 disease not phenotype-associated VAR_019287 commonName VAR_019287 VAR_019287 disease not phenotype-associated VAR_019288 commonName VAR_019288 VAR_019288 disease not phenotype-associated VAR_019289 commonName VAR_019289 VAR_019289 disease not phenotype-associated VAR_019290 commonName VAR_019290 VAR_019290 disease not phenotype-associated VAR_019291 commonName VAR_019291 VAR_019291 disease not phenotype-associated VAR_019292 commonName VAR_019292 VAR_019292 disease not phenotype-associated VAR_019293 commonName VAR_019293 VAR_019293 disease not phenotype-associated VAR_019294 commonName VAR_019294 VAR_019294 disease not phenotype-associated VAR_019295 commonName VAR_019295 VAR_019295 disease not phenotype-associated VAR_019296 commonName VAR_019296 VAR_019296 disease not phenotype-associated VAR_019297 commonName VAR_019297 VAR_019298 commonName VAR_019298 VAR_019299 commonName VAR_019299 VAR_019299 disease not phenotype-associated VAR_019300 commonName VAR_019300 VAR_019300 disease not phenotype-associated VAR_019301 commonName VAR_019301 VAR_019301 disease not phenotype-associated VAR_019302 commonName VAR_019302 VAR_019302 disease phenotype-associated VAR_019302 phenoCommon Familial hibernian fever (FHF) [MIM:142680] VAR_019303 commonName VAR_019303 VAR_019303 disease phenotype-associated VAR_019303 phenoCommon Familial hibernian fever (FHF) [MIM:142680] VAR_019304 commonName VAR_019304 VAR_019304 disease phenotype-associated VAR_019304 phenoCommon Familial hibernian fever (FHF) [MIM:142680] VAR_019305 commonName VAR_019305 VAR_019305 disease phenotype-associated VAR_019305 phenoCommon Familial hibernian fever (FHF) [MIM:142680] VAR_019306 commonName VAR_019306 VAR_019306 disease not phenotype-associated VAR_019307 commonName VAR_019307 VAR_019307 disease phenotype-associated VAR_019307 phenoCommon AICAR transformylase/IMP cyclohydrolase deficiency (AICAR) [MIM:608688] VAR_019308 commonName VAR_019308 VAR_019308 disease phenotype-associated VAR_019308 phenoCommon Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612] VAR_019310 commonName VAR_019310 VAR_019310 disease phenotype-associated VAR_019310 phenoCommon Renal glucosuria (GLYS1) [MIM:233100] VAR_019311 commonName VAR_019311 VAR_019311 disease phenotype-associated VAR_019311 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110] VAR_019312 commonName VAR_019312 VAR_019312 disease phenotype-associated VAR_019312 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110] VAR_019313 commonName VAR_019313 VAR_019313 disease phenotype-associated VAR_019313 phenoCommon Fertile eunuch syndrome (FEUNS) [MIM:228300] VAR_019313 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110] VAR_019314 commonName VAR_019314 VAR_019314 disease phenotype-associated VAR_019314 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110] VAR_019315 commonName VAR_019315 VAR_019315 disease phenotype-associated VAR_019315 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110] VAR_019316 commonName VAR_019316 VAR_019316 disease phenotype-associated VAR_019316 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110] VAR_019317 commonName VAR_019317 VAR_019317 disease phenotype-associated VAR_019317 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110] VAR_019318 commonName VAR_019318 VAR_019318 disease phenotype-associated VAR_019318 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110] VAR_019319 commonName VAR_019319 VAR_019319 disease phenotype-associated VAR_019319 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110] VAR_019320 commonName VAR_019320 VAR_019320 disease phenotype-associated VAR_019320 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110] VAR_019322 commonName VAR_019322 VAR_019322 disease not phenotype-associated VAR_019323 commonName VAR_019323 VAR_019323 disease not phenotype-associated VAR_019325 commonName VAR_019325 VAR_019325 disease not phenotype-associated VAR_019326 commonName VAR_019326 VAR_019326 disease not phenotype-associated VAR_019327 commonName VAR_019327 VAR_019327 disease not phenotype-associated VAR_019328 commonName VAR_019328 VAR_019328 disease not phenotype-associated VAR_019329 commonName VAR_019329 VAR_019329 disease phenotype-associated VAR_019329 phenoCommon Familial hibernian fever (FHF) [MIM:142680] VAR_019330 commonName VAR_019330 VAR_019330 disease phenotype-associated VAR_019330 phenoCommon Familial hibernian fever (FHF) [MIM:142680] VAR_019331 commonName VAR_019331 VAR_019331 disease phenotype-associated VAR_019331 phenoCommon Familial hibernian fever (FHF) [MIM:142680] VAR_019332 commonName VAR_019332 VAR_019332 disease phenotype-associated VAR_019332 phenoCommon Familial hibernian fever (FHF) [MIM:142680] VAR_019333 commonName VAR_019333 VAR_019333 disease not phenotype-associated VAR_019334 commonName VAR_019334 VAR_019334 disease phenotype-associated VAR_019334 phenoCommon Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) [MIM:221770] VAR_019335 commonName VAR_019335 VAR_019335 disease phenotype-associated VAR_019335 phenoCommon Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) [MIM:221770] VAR_019336 commonName VAR_019336 VAR_019336 disease not phenotype-associated VAR_019338 commonName VAR_019338 VAR_019338 disease phenotype-associated VAR_019338 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802] VAR_019339 commonName VAR_019339 VAR_019339 disease phenotype-associated VAR_019339 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802] VAR_019340 commonName VAR_019340 VAR_019340 disease not phenotype-associated VAR_019341 commonName VAR_019341 VAR_019341 disease not phenotype-associated VAR_019342 commonName VAR_019342 VAR_019342 disease not phenotype-associated VAR_019343 commonName VAR_019343 VAR_019343 disease not phenotype-associated VAR_019344 commonName VAR_019344 VAR_019344 disease not phenotype-associated VAR_019345 commonName VAR_019345 VAR_019345 disease not phenotype-associated VAR_019346 commonName VAR_019346 VAR_019346 disease not phenotype-associated VAR_019347 commonName VAR_019347 VAR_019347 disease not phenotype-associated VAR_019348 commonName VAR_019348 VAR_019348 disease not phenotype-associated VAR_019349 commonName VAR_019349 VAR_019349 disease not phenotype-associated VAR_019350 commonName VAR_019350 VAR_019350 disease not phenotype-associated VAR_019351 commonName VAR_019351 VAR_019351 disease not phenotype-associated VAR_019352 commonName VAR_019352 VAR_019352 disease not phenotype-associated VAR_019353 commonName VAR_019353 VAR_019353 disease not phenotype-associated VAR_019354 commonName VAR_019354 VAR_019354 disease not phenotype-associated VAR_019357 commonName VAR_019357 VAR_019357 disease not phenotype-associated VAR_019358 commonName VAR_019358 VAR_019358 disease not phenotype-associated VAR_019359 commonName VAR_019359 VAR_019359 disease not phenotype-associated VAR_019360 commonName VAR_019360 VAR_019360 disease not phenotype-associated VAR_019361 commonName VAR_019361 VAR_019361 disease not phenotype-associated VAR_019362 commonName VAR_019362 VAR_019362 disease not phenotype-associated VAR_019363 commonName VAR_019363 VAR_019363 disease not phenotype-associated VAR_019364 commonName VAR_019364 VAR_019364 disease not phenotype-associated VAR_019365 commonName VAR_019365 VAR_019365 disease not phenotype-associated VAR_019366 commonName VAR_019366 VAR_019366 disease not phenotype-associated VAR_019367 commonName VAR_019367 VAR_019367 disease not phenotype-associated VAR_019368 commonName VAR_019368 VAR_019368 disease not phenotype-associated VAR_019369 commonName VAR_019369 VAR_019369 disease phenotype-associated VAR_019369 phenoCommon Mucolipidosis type IV (MLIV) [MIM:252650] VAR_019370 commonName VAR_019370 VAR_019370 disease phenotype-associated VAR_019370 phenoCommon Mucolipidosis type IV (MLIV) [MIM:252650] VAR_019371 commonName VAR_019371 VAR_019371 disease phenotype-associated VAR_019371 phenoCommon Mucolipidosis type IV (MLIV) [MIM:252650] VAR_019373 commonName VAR_019373 VAR_019373 disease phenotype-associated VAR_019373 phenoCommon Mucolipidosis type IV (MLIV) [MIM:252650] VAR_019374 commonName VAR_019374 VAR_019374 disease phenotype-associated VAR_019374 phenoCommon Mucolipidosis type IV (MLIV) [MIM:252650] VAR_019375 commonName VAR_019375 VAR_019375 disease phenotype-associated VAR_019375 phenoCommon Mucolipidosis type IV (MLIV) [MIM:252650] VAR_019376 commonName VAR_019376 VAR_019376 disease not phenotype-associated VAR_019377 commonName VAR_019377 VAR_019377 disease not phenotype-associated VAR_019379 commonName VAR_019379 VAR_019379 disease not phenotype-associated VAR_019380 commonName VAR_019380 VAR_019380 disease not phenotype-associated VAR_019392 commonName VAR_019392 VAR_019392 disease not phenotype-associated VAR_019393 commonName VAR_019393 VAR_019393 disease not phenotype-associated VAR_019394 commonName VAR_019394 VAR_019394 disease not phenotype-associated VAR_019395 commonName VAR_019395 VAR_019395 disease not phenotype-associated VAR_019396 commonName VAR_019396 VAR_019396 disease not phenotype-associated VAR_019397 commonName VAR_019397 VAR_019397 disease not phenotype-associated VAR_019399 commonName VAR_019399 VAR_019399 disease phenotype-associated VAR_019399 phenoCommon Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700] VAR_019400 commonName VAR_019400 VAR_019400 disease phenotype-associated VAR_019400 phenoCommon Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700] VAR_019401 commonName VAR_019401 VAR_019401 disease phenotype-associated VAR_019401 phenoCommon Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700] VAR_019402 commonName VAR_019402 VAR_019402 disease phenotype-associated VAR_019402 phenoCommon Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700] VAR_019403 commonName VAR_019403 VAR_019403 disease phenotype-associated VAR_019403 phenoCommon Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700] VAR_019404 commonName VAR_019404 VAR_019404 disease phenotype-associated VAR_019404 phenoCommon Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700] VAR_019405 commonName VAR_019405 VAR_019405 disease phenotype-associated VAR_019405 phenoCommon Complement factor H deficiency (CFHD) [MIM:609814] VAR_019406 commonName VAR_019406 VAR_019406 disease phenotype-associated VAR_019406 phenoCommon Complement factor H deficiency (CFHD) [MIM:609814] VAR_019407 commonName VAR_019407 VAR_019407 disease phenotype-associated VAR_019407 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] VAR_019408 commonName VAR_019408 VAR_019408 disease phenotype-associated VAR_019408 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] VAR_019410 commonName VAR_019410 VAR_019410 disease phenotype-associated VAR_019410 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] VAR_019411 commonName VAR_019411 VAR_019411 disease phenotype-associated VAR_019411 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] VAR_019412 commonName VAR_019412 VAR_019412 disease phenotype-associated VAR_019412 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] VAR_019414 commonName VAR_019414 VAR_019414 disease phenotype-associated VAR_019414 phenoCommon Leri-Weill dyschondrosteosis (LWD) [MIM:127300] VAR_019415 commonName VAR_019415 VAR_019415 disease phenotype-associated VAR_019415 phenoCommon Leri-Weill dyschondrosteosis (LWD) [MIM:127300] VAR_019416 commonName VAR_019416 VAR_019416 disease phenotype-associated VAR_019416 phenoCommon Langer mesomelic dysplasia (LMD) [MIM:249700] VAR_019417 commonName VAR_019417 VAR_019417 disease phenotype-associated VAR_019417 phenoCommon Mitochondrial DNA depletion syndrome type 3 (MTDPS3) [MIM:251880] VAR_019418 commonName VAR_019418 VAR_019418 disease phenotype-associated VAR_019418 phenoCommon Mitochondrial DNA depletion syndrome type 3 (MTDPS3) [MIM:251880] VAR_019419 commonName VAR_019419 VAR_019419 disease phenotype-associated VAR_019419 phenoCommon Mitochondrial DNA depletion syndrome type 2 (MTDPS2) [MIM:609560] VAR_019420 commonName VAR_019420 VAR_019420 disease phenotype-associated VAR_019420 phenoCommon Mitochondrial DNA depletion syndrome type 2 (MTDPS2) [MIM:609560] VAR_019421 commonName VAR_019421 VAR_019421 disease phenotype-associated VAR_019421 phenoCommon Mitochondrial DNA depletion syndrome type 2 (MTDPS2) [MIM:609560] VAR_019423 commonName VAR_019423 VAR_019423 disease not phenotype-associated VAR_019425 commonName VAR_019425 VAR_019425 disease not phenotype-associated VAR_019426 commonName VAR_019426 VAR_019426 disease not phenotype-associated VAR_019427 commonName VAR_019427 VAR_019427 disease not phenotype-associated VAR_019428 commonName VAR_019428 VAR_019428 disease not phenotype-associated VAR_019429 commonName VAR_019429 VAR_019429 disease not phenotype-associated VAR_019431 commonName VAR_019431 VAR_019431 disease not phenotype-associated VAR_019432 commonName VAR_019432 VAR_019432 disease not phenotype-associated VAR_019433 commonName VAR_019433 VAR_019433 disease not phenotype-associated VAR_019434 commonName VAR_019434 VAR_019434 disease not phenotype-associated VAR_019435 commonName VAR_019435 VAR_019435 disease not phenotype-associated VAR_019436 commonName VAR_019436 VAR_019436 disease not phenotype-associated VAR_019437 commonName VAR_019437 VAR_019437 disease not phenotype-associated VAR_019438 commonName VAR_019438 VAR_019438 disease not phenotype-associated VAR_019439 commonName VAR_019439 VAR_019439 disease phenotype-associated VAR_019439 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_019440 commonName VAR_019440 VAR_019440 disease phenotype-associated VAR_019440 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_019441 commonName VAR_019441 VAR_019441 disease phenotype-associated VAR_019441 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_019442 commonName VAR_019442 VAR_019442 disease phenotype-associated VAR_019442 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_019444 commonName VAR_019444 VAR_019444 disease phenotype-associated VAR_019444 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_019445 commonName VAR_019445 VAR_019445 disease phenotype-associated VAR_019445 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_019446 commonName VAR_019446 VAR_019446 disease phenotype-associated VAR_019446 phenoCommon Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600] VAR_019447 commonName VAR_019447 VAR_019447 disease phenotype-associated VAR_019447 phenoCommon Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600] VAR_019448 commonName VAR_019448 VAR_019448 disease phenotype-associated VAR_019448 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_019450 commonName VAR_019450 VAR_019450 disease phenotype-associated VAR_019450 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_019451 commonName VAR_019451 VAR_019451 disease phenotype-associated VAR_019451 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_019452 commonName VAR_019452 VAR_019452 disease phenotype-associated VAR_019452 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_019453 commonName VAR_019453 VAR_019453 disease not phenotype-associated VAR_019454 commonName VAR_019454 VAR_019454 disease not phenotype-associated VAR_019455 commonName VAR_019455 VAR_019455 disease not phenotype-associated VAR_019456 commonName VAR_019456 VAR_019456 disease not phenotype-associated VAR_019457 commonName VAR_019457 VAR_019457 disease not phenotype-associated VAR_019458 commonName VAR_019458 VAR_019458 disease not phenotype-associated VAR_019459 commonName VAR_019459 VAR_019459 disease not phenotype-associated VAR_019461 commonName VAR_019461 VAR_019461 disease not phenotype-associated VAR_019462 commonName VAR_019462 VAR_019462 disease not phenotype-associated VAR_019463 commonName VAR_019463 VAR_019463 disease not phenotype-associated VAR_019464 commonName VAR_019464 VAR_019464 disease not phenotype-associated VAR_019465 commonName VAR_019465 VAR_019465 disease phenotype-associated VAR_019465 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] VAR_019466 commonName VAR_019466 VAR_019466 disease phenotype-associated VAR_019466 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] VAR_019467 commonName VAR_019467 VAR_019467 disease phenotype-associated VAR_019467 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] VAR_019468 commonName VAR_019468 VAR_019469 commonName VAR_019469 VAR_019469 disease phenotype-associated VAR_019469 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] VAR_019470 commonName VAR_019470 VAR_019470 disease phenotype-associated VAR_019470 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] VAR_019471 commonName VAR_019471 VAR_019471 disease phenotype-associated VAR_019471 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] VAR_019472 commonName VAR_019472 VAR_019472 disease phenotype-associated VAR_019472 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] VAR_019473 commonName VAR_019473 VAR_019473 disease not phenotype-associated VAR_019474 commonName VAR_019474 VAR_019474 disease phenotype-associated VAR_019474 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] VAR_019482 commonName VAR_019482 VAR_019482 disease phenotype-associated VAR_019482 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] VAR_019483 commonName VAR_019483 VAR_019483 disease phenotype-associated VAR_019483 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] VAR_019484 commonName VAR_019484 VAR_019484 disease phenotype-associated VAR_019484 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] VAR_019485 commonName VAR_019485 VAR_019485 disease phenotype-associated VAR_019485 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] VAR_019486 commonName VAR_019486 VAR_019486 disease not phenotype-associated VAR_019487 commonName VAR_019487 VAR_019487 disease phenotype-associated VAR_019487 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] VAR_019488 commonName VAR_019488 VAR_019488 disease phenotype-associated VAR_019488 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] VAR_019489 commonName VAR_019489 VAR_019489 disease not phenotype-associated VAR_019490 commonName VAR_019490 VAR_019490 disease not phenotype-associated VAR_019491 commonName VAR_019491 VAR_019491 disease not phenotype-associated VAR_019492 commonName VAR_019492 VAR_019492 disease not phenotype-associated VAR_019493 commonName VAR_019493 VAR_019493 disease not phenotype-associated VAR_019494 commonName VAR_019494 VAR_019494 disease not phenotype-associated VAR_019495 commonName VAR_019495 VAR_019495 disease not phenotype-associated VAR_019496 commonName VAR_019496 VAR_019496 disease not phenotype-associated VAR_019497 commonName VAR_019497 VAR_019497 disease not phenotype-associated VAR_019498 commonName VAR_019498 VAR_019498 disease not phenotype-associated VAR_019499 commonName VAR_019499 VAR_019499 disease not phenotype-associated VAR_019500 commonName VAR_019500 VAR_019500 disease not phenotype-associated VAR_019501 commonName VAR_019501 VAR_019501 disease not phenotype-associated VAR_019502 commonName VAR_019502 VAR_019502 disease not phenotype-associated VAR_019503 commonName VAR_019503 VAR_019503 disease not phenotype-associated VAR_019504 commonName VAR_019504 VAR_019504 disease not phenotype-associated VAR_019505 commonName VAR_019505 VAR_019505 disease not phenotype-associated VAR_019506 commonName VAR_019506 VAR_019506 disease not phenotype-associated VAR_019507 commonName VAR_019507 VAR_019507 disease not phenotype-associated VAR_019509 commonName VAR_019509 VAR_019509 disease not phenotype-associated VAR_019510 commonName VAR_019510 VAR_019510 disease not phenotype-associated VAR_019511 commonName VAR_019511 VAR_019511 disease not phenotype-associated VAR_019512 commonName VAR_019512 VAR_019512 disease not phenotype-associated VAR_019513 commonName VAR_019513 VAR_019513 disease not phenotype-associated VAR_019514 commonName VAR_019514 VAR_019514 disease not phenotype-associated VAR_019515 commonName VAR_019515 VAR_019515 disease not phenotype-associated VAR_019516 commonName VAR_019516 VAR_019516 disease not phenotype-associated VAR_019518 commonName VAR_019518 VAR_019518 disease not phenotype-associated VAR_019519 commonName VAR_019519 VAR_019519 disease phenotype-associated VAR_019519 phenoCommon Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470] VAR_019520 commonName VAR_019520 VAR_019520 disease phenotype-associated VAR_019520 phenoCommon Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470] VAR_019521 commonName VAR_019521 VAR_019521 disease phenotype-associated VAR_019521 phenoCommon Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470] VAR_019522 commonName VAR_019522 VAR_019522 disease not phenotype-associated VAR_019523 commonName VAR_019523 VAR_019523 disease phenotype-associated VAR_019523 phenoCommon Hailey-Hailey disease (HHD) [MIM:169600] VAR_019524 commonName VAR_019524 VAR_019524 disease phenotype-associated VAR_019524 phenoCommon Hailey-Hailey disease (HHD) [MIM:169600] VAR_019525 commonName VAR_019525 VAR_019525 disease not phenotype-associated VAR_019526 commonName VAR_019526 VAR_019526 disease not phenotype-associated VAR_019528 commonName VAR_019528 VAR_019528 disease not phenotype-associated VAR_019529 commonName VAR_019529 VAR_019529 disease not phenotype-associated VAR_019530 commonName VAR_019530 VAR_019530 disease not phenotype-associated VAR_019531 commonName VAR_019531 VAR_019531 disease not phenotype-associated VAR_019532 commonName VAR_019532 VAR_019532 disease phenotype-associated VAR_019532 phenoCommon Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] VAR_019533 commonName VAR_019533 VAR_019533 disease phenotype-associated VAR_019533 phenoCommon Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] VAR_019534 commonName VAR_019534 VAR_019534 disease phenotype-associated VAR_019534 phenoCommon Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] VAR_019535 commonName VAR_019535 VAR_019535 disease phenotype-associated VAR_019535 phenoCommon Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] VAR_019536 commonName VAR_019536 VAR_019536 disease phenotype-associated VAR_019536 phenoCommon Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] VAR_019537 commonName VAR_019537 VAR_019537 disease phenotype-associated VAR_019537 phenoCommon Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] VAR_019538 commonName VAR_019538 VAR_019538 disease phenotype-associated VAR_019538 phenoCommon Leigh syndrome (LS) [MIM:256000] VAR_019539 commonName VAR_019539 VAR_019539 disease phenotype-associated VAR_019539 phenoCommon Leigh syndrome (LS) [MIM:256000] VAR_019540 commonName VAR_019540 VAR_019540 disease not phenotype-associated VAR_019541 commonName VAR_019541 VAR_019541 disease not phenotype-associated VAR_019542 commonName VAR_019542 VAR_019542 disease not phenotype-associated VAR_019543 commonName VAR_019543 VAR_019543 disease not phenotype-associated VAR_019544 commonName VAR_019544 VAR_019544 disease not phenotype-associated VAR_019545 commonName VAR_019545 VAR_019546 commonName VAR_019546 VAR_019546 disease not phenotype-associated VAR_019549 commonName VAR_019549 VAR_019549 disease not phenotype-associated VAR_019550 commonName VAR_019550 VAR_019550 disease not phenotype-associated VAR_019551 commonName VAR_019551 VAR_019551 disease not phenotype-associated VAR_019556 commonName VAR_019556 VAR_019556 disease not phenotype-associated VAR_019558 commonName VAR_019558 VAR_019558 disease not phenotype-associated VAR_019559 comment A colon adenocarcinoma sample VAR_019559 commonName VAR_019559 VAR_019560 commonName VAR_019560 VAR_019560 disease not phenotype-associated VAR_019561 comment A breast cancer sample VAR_019561 commonName VAR_019561 VAR_019562 comment A non-Hodgkin lymphoma sample VAR_019562 commonName VAR_019562 VAR_019563 comment A colon cancer sample VAR_019563 commonName VAR_019563 VAR_019564 comment A non-Hodgkin lymphoma sample VAR_019564 commonName VAR_019564 VAR_019565 commonName VAR_019565 VAR_019565 disease not phenotype-associated VAR_019566 commonName VAR_019566 VAR_019566 disease phenotype-associated VAR_019566 phenoCommon Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462] VAR_019567 commonName VAR_019567 VAR_019567 disease phenotype-associated VAR_019567 phenoCommon Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462] VAR_019568 commonName VAR_019568 VAR_019568 disease phenotype-associated VAR_019568 phenoCommon Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462] VAR_019569 commonName VAR_019569 VAR_019569 disease phenotype-associated VAR_019569 phenoCommon Osteopetrosis autosomal recessive type 1 (OPTB1) [MIM:259700] VAR_019570 commonName VAR_019570 VAR_019570 disease phenotype-associated VAR_019570 phenoCommon Osteopetrosis autosomal recessive type 1 (OPTB1) [MIM:259700] VAR_019571 commonName VAR_019571 VAR_019571 disease phenotype-associated VAR_019571 phenoCommon Juvenile polyposis syndrome (JPS) [MIM:174900] VAR_019571 phenoCommon Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT) [MIM:175050] VAR_019572 commonName VAR_019572 VAR_019572 disease phenotype-associated VAR_019572 phenoCommon Juvenile polyposis syndrome (JPS) [MIM:174900] VAR_019573 commonName VAR_019573 VAR_019573 disease phenotype-associated VAR_019573 phenoCommon Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT) [MIM:175050] VAR_019574 commonName VAR_019574 VAR_019574 disease not phenotype-associated VAR_019576 commonName VAR_019576 VAR_019576 disease not phenotype-associated VAR_019577 commonName VAR_019577 VAR_019577 disease not phenotype-associated VAR_019578 commonName VAR_019578 VAR_019578 disease not phenotype-associated VAR_019579 commonName VAR_019579 VAR_019579 disease not phenotype-associated VAR_019580 commonName VAR_019580 VAR_019580 disease not phenotype-associated VAR_019581 commonName VAR_019581 VAR_019581 disease not phenotype-associated VAR_019582 commonName VAR_019582 VAR_019582 disease not phenotype-associated VAR_019583 commonName VAR_019583 VAR_019583 disease not phenotype-associated VAR_019584 commonName VAR_019584 VAR_019584 disease not phenotype-associated VAR_019585 commonName VAR_019585 VAR_019585 disease not phenotype-associated VAR_019586 commonName VAR_019586 VAR_019586 disease not phenotype-associated VAR_019587 commonName VAR_019587 VAR_019587 disease not phenotype-associated VAR_019588 commonName VAR_019588 VAR_019588 disease not phenotype-associated VAR_019589 commonName VAR_019589 VAR_019589 disease not phenotype-associated VAR_019590 commonName VAR_019590 VAR_019590 disease not phenotype-associated VAR_019592 commonName VAR_019592 VAR_019592 disease not phenotype-associated VAR_019596 commonName VAR_019596 VAR_019596 disease phenotype-associated VAR_019596 phenoCommon Leigh syndrome (LS) [MIM:256000] VAR_019596 phenoCommon Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] VAR_019597 commonName VAR_019597 VAR_019597 disease not phenotype-associated VAR_019598 commonName VAR_019598 VAR_019598 disease phenotype-associated VAR_019598 phenoCommon Ichthyosis lamellar type 2 (LI2) [MIM:601277] VAR_019599 commonName VAR_019599 VAR_019599 disease phenotype-associated VAR_019599 phenoCommon Ichthyosis lamellar type 2 (LI2) [MIM:601277] VAR_019600 commonName VAR_019600 VAR_019600 disease phenotype-associated VAR_019600 phenoCommon Erythroderma, ichthyosiform, congenital non-bullous (NCIE) [MIM:242100] VAR_019600 phenoCommon Ichthyosis lamellar type 2 (LI2) [MIM:601277] VAR_019603 commonName VAR_019603 VAR_019603 disease not phenotype-associated VAR_019604 commonName VAR_019604 VAR_019604 disease not phenotype-associated VAR_019605 commonName VAR_019605 VAR_019605 disease not phenotype-associated VAR_019606 commonName VAR_019606 VAR_019606 disease not phenotype-associated VAR_019607 commonName VAR_019607 VAR_019607 disease not phenotype-associated VAR_019608 commonName VAR_019608 VAR_019608 disease phenotype-associated VAR_019608 phenoCommon Kartagener syndrome (KTGS) [MIM:244400] VAR_019609 commonName VAR_019609 VAR_019609 disease not phenotype-associated VAR_019610 commonName VAR_019610 VAR_019610 disease not phenotype-associated VAR_019611 commonName VAR_019611 VAR_019611 disease not phenotype-associated VAR_019612 commonName VAR_019612 VAR_019612 disease not phenotype-associated VAR_019613 commonName VAR_019613 VAR_019613 disease not phenotype-associated VAR_019614 commonName VAR_019614 VAR_019614 disease not phenotype-associated VAR_019615 commonName VAR_019615 VAR_019615 disease not phenotype-associated VAR_019616 commonName VAR_019616 VAR_019616 disease not phenotype-associated VAR_019617 commonName VAR_019617 VAR_019617 disease phenotype-associated VAR_019617 phenoCommon Hemochromatosis type 2A (HFE2A) [MIM:602390] VAR_019618 commonName VAR_019618 VAR_019618 disease phenotype-associated VAR_019618 phenoCommon Hemochromatosis type 2A (HFE2A) [MIM:602390] VAR_019619 commonName VAR_019619 VAR_019619 disease phenotype-associated VAR_019619 phenoCommon Hemochromatosis type 2A (HFE2A) [MIM:602390] VAR_019620 commonName VAR_019620 VAR_019620 disease phenotype-associated VAR_019620 phenoCommon Hemochromatosis type 2A (HFE2A) [MIM:602390] VAR_019621 commonName VAR_019621 VAR_019621 disease phenotype-associated VAR_019621 phenoCommon Hemochromatosis type 2A (HFE2A) [MIM:602390] VAR_019622 commonName VAR_019622 VAR_019622 disease phenotype-associated VAR_019622 phenoCommon Hemochromatosis type 2A (HFE2A) [MIM:602390] VAR_019623 commonName VAR_019623 VAR_019623 disease phenotype-associated VAR_019623 phenoCommon Hemochromatosis type 2A (HFE2A) [MIM:602390] VAR_019624 commonName VAR_019624 VAR_019624 disease phenotype-associated VAR_019624 phenoCommon Hemochromatosis type 2A (HFE2A) [MIM:602390] VAR_019625 commonName VAR_019625 VAR_019625 disease phenotype-associated VAR_019625 phenoCommon Hemochromatosis type 2A (HFE2A) [MIM:602390] VAR_019626 commonName VAR_019626 VAR_019626 disease phenotype-associated VAR_019626 phenoCommon Hemochromatosis type 2A (HFE2A) [MIM:602390] VAR_019627 commonName VAR_019627 VAR_019627 disease phenotype-associated VAR_019627 phenoCommon Hemochromatosis type 2A (HFE2A) [MIM:602390] VAR_019628 commonName VAR_019628 VAR_019628 disease phenotype-associated VAR_019628 phenoCommon Hemochromatosis type 2A (HFE2A) [MIM:602390] VAR_019630 commonName VAR_019630 VAR_019630 disease not phenotype-associated VAR_019632 commonName VAR_019632 VAR_019632 disease not phenotype-associated VAR_019633 commonName VAR_019633 VAR_019633 disease not phenotype-associated VAR_019634 commonName VAR_019634 VAR_019634 disease not phenotype-associated VAR_019635 commonName VAR_019635 VAR_019635 disease phenotype-associated VAR_019635 phenoCommon Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771] VAR_019636 commonName VAR_019636 VAR_019636 disease phenotype-associated VAR_019636 phenoCommon Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771] VAR_019637 commonName VAR_019637 VAR_019637 disease phenotype-associated VAR_019637 phenoCommon Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771] VAR_019638 commonName VAR_019638 VAR_019638 disease phenotype-associated VAR_019638 phenoCommon Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771] VAR_019639 commonName VAR_019639 VAR_019639 disease phenotype-associated VAR_019639 phenoCommon Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771] VAR_019640 commonName VAR_019640 VAR_019640 disease phenotype-associated VAR_019640 phenoCommon Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771] VAR_019641 commonName VAR_019641 VAR_019641 disease phenotype-associated VAR_019641 phenoCommon Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771] VAR_019646 commonName VAR_019646 VAR_019646 disease not phenotype-associated VAR_019647 commonName VAR_019647 VAR_019648 commonName VAR_019648 VAR_019648 disease not phenotype-associated VAR_019649 commonName VAR_019649 VAR_019649 disease not phenotype-associated VAR_019650 commonName VAR_019650 VAR_019650 disease not phenotype-associated VAR_019651 commonName VAR_019651 VAR_019651 disease not phenotype-associated VAR_019652 commonName VAR_019652 VAR_019652 disease not phenotype-associated VAR_019653 commonName VAR_019653 VAR_019653 disease not phenotype-associated VAR_019654 commonName VAR_019654 VAR_019654 disease not phenotype-associated VAR_019655 commonName VAR_019655 VAR_019655 disease not phenotype-associated VAR_019656 commonName VAR_019656 VAR_019656 disease not phenotype-associated VAR_019658 commonName VAR_019658 VAR_019658 disease not phenotype-associated VAR_019659 commonName VAR_019659 VAR_019659 disease not phenotype-associated VAR_019669 commonName VAR_019669 VAR_019669 disease not phenotype-associated VAR_019670 commonName VAR_019670 VAR_019670 disease not phenotype-associated VAR_019671 commonName VAR_019671 VAR_019671 disease not phenotype-associated VAR_019672 commonName VAR_019672 VAR_019672 disease not phenotype-associated VAR_019673 commonName VAR_019673 VAR_019673 disease not phenotype-associated VAR_019674 commonName VAR_019674 VAR_019674 disease not phenotype-associated VAR_019676 commonName VAR_019676 VAR_019676 disease not phenotype-associated VAR_019677 commonName VAR_019677 VAR_019677 disease not phenotype-associated VAR_019678 commonName VAR_019678 VAR_019678 disease not phenotype-associated VAR_019679 commonName VAR_019679 VAR_019679 disease not phenotype-associated VAR_019680 commonName VAR_019680 VAR_019680 disease not phenotype-associated VAR_019681 commonName VAR_019681 VAR_019681 disease not phenotype-associated VAR_019682 commonName VAR_019682 VAR_019682 disease not phenotype-associated VAR_019683 commonName VAR_019683 VAR_019683 disease not phenotype-associated VAR_019684 commonName VAR_019684 VAR_019684 disease not phenotype-associated VAR_019685 commonName VAR_019685 VAR_019685 disease not phenotype-associated VAR_019686 commonName VAR_019686 VAR_019686 disease not phenotype-associated VAR_019687 commonName VAR_019687 VAR_019687 disease not phenotype-associated VAR_019688 commonName VAR_019688 VAR_019688 disease not phenotype-associated VAR_019689 commonName VAR_019689 VAR_019689 disease not phenotype-associated VAR_019690 commonName VAR_019690 VAR_019690 disease not phenotype-associated VAR_019695 commonName VAR_019695 VAR_019695 disease not phenotype-associated VAR_019697 commonName VAR_019697 VAR_019697 disease not phenotype-associated VAR_019698 commonName VAR_019698 VAR_019698 disease not phenotype-associated VAR_019699 commonName VAR_019699 VAR_019699 disease phenotype-associated VAR_019699 phenoCommon Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853] VAR_019700 commonName VAR_019700 VAR_019700 disease not phenotype-associated VAR_019704 commonName VAR_019704 VAR_019704 disease not phenotype-associated VAR_019706 commonName VAR_019706 VAR_019706 disease not phenotype-associated VAR_019707 comment A lymphoid cancer cell line VAR_019707 commonName VAR_019707 VAR_019708 comment A prostate cancer cell line VAR_019708 commonName VAR_019708 VAR_019709 commonName VAR_019709 VAR_019709 disease not phenotype-associated VAR_019710 comment Lung cancer cell line VAR_019710 commonName VAR_019710 VAR_019711 comment A prostate cancer cell line VAR_019711 commonName VAR_019711 VAR_019721 commonName VAR_019721 VAR_019721 disease not phenotype-associated VAR_019722 commonName VAR_019722 VAR_019722 disease not phenotype-associated VAR_019724 commonName VAR_019724 VAR_019724 disease phenotype-associated VAR_019724 phenoCommon Bartter syndrome type 2 (BS2) [MIM:241200] VAR_019725 commonName VAR_019725 VAR_019725 disease phenotype-associated VAR_019725 phenoCommon Bartter syndrome type 2 (BS2) [MIM:241200] VAR_019726 commonName VAR_019726 VAR_019726 disease phenotype-associated VAR_019726 phenoCommon Bartter syndrome type 2 (BS2) [MIM:241200] VAR_019727 commonName VAR_019727 VAR_019727 disease phenotype-associated VAR_019727 phenoCommon Bartter syndrome type 2 (BS2) [MIM:241200] VAR_019728 commonName VAR_019728 VAR_019728 disease not phenotype-associated VAR_019729 commonName VAR_019729 VAR_019729 disease not phenotype-associated VAR_019730 commonName VAR_019730 VAR_019730 disease not phenotype-associated VAR_019731 commonName VAR_019731 VAR_019731 disease not phenotype-associated VAR_019732 commonName VAR_019732 VAR_019732 disease not phenotype-associated VAR_019733 commonName VAR_019733 VAR_019733 disease phenotype-associated VAR_019733 phenoCommon Parkinson disease (PARK) [MIM:168600] VAR_019734 commonName VAR_019734 VAR_019734 disease phenotype-associated VAR_019734 phenoCommon Parkinson disease (PARK) [MIM:168600] VAR_019735 commonName VAR_019735 VAR_019735 disease phenotype-associated VAR_019735 phenoCommon Parkinson disease type 2 (PARK2) [MIM:600116] VAR_019736 commonName VAR_019736 VAR_019736 disease phenotype-associated VAR_019736 phenoCommon Parkinson disease (PARK) [MIM:168600] VAR_019737 commonName VAR_019737 VAR_019737 disease phenotype-associated VAR_019737 phenoCommon Parkinson disease (PARK) [MIM:168600] VAR_019738 commonName VAR_019738 VAR_019738 disease phenotype-associated VAR_019738 phenoCommon Parkinson disease (PARK) [MIM:168600] VAR_019738 phenoCommon Parkinson disease type 2 (PARK2) [MIM:600116] VAR_019739 commonName VAR_019739 VAR_019739 disease phenotype-associated VAR_019739 phenoCommon Parkinson disease type 2 (PARK2) [MIM:600116] VAR_019740 commonName VAR_019740 VAR_019740 disease not phenotype-associated VAR_019741 commonName VAR_019741 VAR_019741 disease phenotype-associated VAR_019741 phenoCommon Parkinson disease (PARK) [MIM:168600] VAR_019741 phenoCommon Parkinson disease type 2 (PARK2) [MIM:600116] VAR_019742 commonName VAR_019742 VAR_019742 disease not phenotype-associated VAR_019743 commonName VAR_019743 VAR_019743 disease phenotype-associated VAR_019743 phenoCommon Parkinson disease (PARK) [MIM:168600] VAR_019744 commonName VAR_019744 VAR_019744 disease phenotype-associated VAR_019744 phenoCommon Parkinson disease (PARK) [MIM:168600] VAR_019745 commonName VAR_019745 VAR_019745 disease phenotype-associated VAR_019745 phenoCommon Parkinson disease (PARK) [MIM:168600] VAR_019746 commonName VAR_019746 VAR_019746 disease phenotype-associated VAR_019746 phenoCommon Parkinson disease type 2 (PARK2) [MIM:600116] VAR_019747 commonName VAR_019747 VAR_019747 disease phenotype-associated VAR_019747 phenoCommon Parkinson disease (PARK) [MIM:168600] VAR_019748 commonName VAR_019748 VAR_019748 disease phenotype-associated VAR_019748 phenoCommon Parkinson disease type 2 (PARK2) [MIM:600116] VAR_019749 commonName VAR_019749 VAR_019749 disease phenotype-associated VAR_019749 phenoCommon Parkinson disease (PARK) [MIM:168600] VAR_019750 commonName VAR_019750 VAR_019750 disease phenotype-associated VAR_019750 phenoCommon Parkinson disease (PARK) [MIM:168600] VAR_019750 phenoCommon Parkinson disease type 2 (PARK2) [MIM:600116] VAR_019751 commonName VAR_019751 VAR_019751 disease not phenotype-associated VAR_019752 commonName VAR_019752 VAR_019752 disease phenotype-associated VAR_019752 phenoCommon Parkinson disease (PARK) [MIM:168600] VAR_019752 phenoCommon Parkinson disease type 2 (PARK2) [MIM:600116] VAR_019768 commonName VAR_019768 VAR_019768 disease not phenotype-associated VAR_019769 commonName VAR_019769 VAR_019769 disease not phenotype-associated VAR_019770 commonName VAR_019770 VAR_019770 disease not phenotype-associated VAR_019771 commonName VAR_019771 VAR_019771 disease not phenotype-associated VAR_019772 commonName VAR_019772 VAR_019772 disease not phenotype-associated VAR_019773 commonName VAR_019773 VAR_019773 disease not phenotype-associated VAR_019774 commonName VAR_019774 VAR_019774 disease not phenotype-associated VAR_019775 commonName VAR_019775 VAR_019775 disease not phenotype-associated VAR_019776 commonName VAR_019776 VAR_019776 disease phenotype-associated VAR_019776 phenoCommon Familial hypertrophic cardiomyopathy type 13 (CMH13) [MIM:613243] VAR_019777 commonName VAR_019777 VAR_019777 disease not phenotype-associated VAR_019783 commonName VAR_019783 VAR_019783 disease phenotype-associated VAR_019783 phenoCommon Bartter syndrome type 4A (BS4A) [MIM:602522] VAR_019784 commonName VAR_019784 VAR_019784 disease phenotype-associated VAR_019784 phenoCommon Bartter syndrome type 4A (BS4A) [MIM:602522] VAR_019785 commonName VAR_019785 VAR_019785 disease phenotype-associated VAR_019785 phenoCommon Bartter syndrome type 4A (BS4A) [MIM:602522] VAR_019786 commonName VAR_019786 VAR_019786 disease phenotype-associated VAR_019786 phenoCommon Bartter syndrome type 4A (BS4A) [MIM:602522] VAR_019787 commonName VAR_019787 VAR_019787 disease not phenotype-associated VAR_019788 commonName VAR_019788 VAR_019788 disease not phenotype-associated VAR_019789 commonName VAR_019789 VAR_019789 disease not phenotype-associated VAR_019790 commonName VAR_019790 VAR_019790 disease not phenotype-associated VAR_019791 commonName VAR_019791 VAR_019791 disease not phenotype-associated VAR_019794 commonName VAR_019794 VAR_019794 disease not phenotype-associated VAR_019795 commonName VAR_019795 VAR_019795 disease not phenotype-associated VAR_019796 commonName VAR_019796 VAR_019796 disease not phenotype-associated VAR_019797 commonName VAR_019797 VAR_019797 disease not phenotype-associated VAR_019798 commonName VAR_019798 VAR_019798 disease not phenotype-associated VAR_019799 commonName VAR_019799 VAR_019799 disease not phenotype-associated VAR_019800 commonName VAR_019800 VAR_019800 disease not phenotype-associated VAR_019801 commonName VAR_019801 VAR_019801 disease not phenotype-associated VAR_019802 commonName VAR_019802 VAR_019802 disease not phenotype-associated VAR_019803 commonName VAR_019803 VAR_019803 disease not phenotype-associated VAR_019804 commonName VAR_019804 VAR_019804 disease not phenotype-associated VAR_019806 commonName VAR_019806 VAR_019806 disease not phenotype-associated VAR_019807 commonName VAR_019807 VAR_019807 disease not phenotype-associated VAR_019809 commonName VAR_019809 VAR_019809 disease not phenotype-associated VAR_019810 commonName VAR_019810 VAR_019810 disease phenotype-associated VAR_019810 phenoCommon Carney complex variant (CACOV) [MIM:608837] VAR_019810 phenoCommon Distal arthrogryposis type (DA7) [MIM:158300] VAR_019811 commonName VAR_019811 VAR_019811 disease phenotype-associated VAR_019811 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B6 (MDDGB6) [MIM:608840] VAR_019812 commonName VAR_019812 VAR_019812 disease not phenotype-associated VAR_019813 commonName VAR_019813 VAR_019813 disease not phenotype-associated VAR_019814 commonName VAR_019814 VAR_019814 disease phenotype-associated VAR_019814 phenoCommon Age-related macular degeneration type 3 (ARMD3) [MIM:608895] VAR_019815 commonName VAR_019815 VAR_019815 disease phenotype-associated VAR_019815 phenoCommon Age-related macular degeneration type 3 (ARMD3) [MIM:608895] VAR_019816 commonName VAR_019816 VAR_019816 disease phenotype-associated VAR_019816 phenoCommon Age-related macular degeneration type 3 (ARMD3) [MIM:608895] VAR_019817 commonName VAR_019817 VAR_019817 disease phenotype-associated VAR_019817 phenoCommon Age-related macular degeneration type 3 (ARMD3) [MIM:608895] VAR_019818 commonName VAR_019818 VAR_019818 disease phenotype-associated VAR_019818 phenoCommon Age-related macular degeneration type 3 (ARMD3) [MIM:608895] VAR_019819 commonName VAR_019819 VAR_019819 disease phenotype-associated VAR_019819 phenoCommon Age-related macular degeneration type 3 (ARMD3) [MIM:608895] VAR_019820 commonName VAR_019820 VAR_019820 disease phenotype-associated VAR_019820 phenoCommon Age-related macular degeneration type 3 (ARMD3) [MIM:608895] VAR_019821 commonName VAR_019821 VAR_019821 disease not phenotype-associated VAR_019822 commonName VAR_019822 VAR_019822 disease not phenotype-associated VAR_019823 commonName VAR_019823 VAR_019823 disease not phenotype-associated VAR_019824 commonName VAR_019824 VAR_019824 disease not phenotype-associated VAR_019836 commonName VAR_019836 VAR_019836 disease not phenotype-associated VAR_019838 commonName VAR_019838 VAR_019838 disease not phenotype-associated VAR_019839 commonName VAR_019839 VAR_019839 disease not phenotype-associated VAR_019840 commonName VAR_019840 VAR_019840 disease phenotype-associated VAR_019840 phenoCommon Glycine N-methyltransferase deficiency (GNMT deficiency) [MIM:606664] VAR_019841 commonName VAR_019841 VAR_019841 disease phenotype-associated VAR_019841 phenoCommon Congenital disorder of glycosylation type 1E (CDG1E) [MIM:608799] VAR_019842 commonName VAR_019842 VAR_019842 disease phenotype-associated VAR_019842 phenoCommon Familial hypertrophic cardiomyopathy type 8 (CMH8) [MIM:608751] VAR_019843 commonName VAR_019843 VAR_019843 disease phenotype-associated VAR_019843 phenoCommon Familial hypertrophic cardiomyopathy type 8 (CMH8) [MIM:608751] VAR_019845 commonName VAR_019845 VAR_019845 disease phenotype-associated VAR_019845 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_019846 commonName VAR_019846 VAR_019846 disease phenotype-associated VAR_019846 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_019847 commonName VAR_019847 VAR_019847 disease phenotype-associated VAR_019847 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_019848 commonName VAR_019848 VAR_019848 disease phenotype-associated VAR_019848 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_019849 commonName VAR_019849 VAR_019849 disease phenotype-associated VAR_019849 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_019850 commonName VAR_019850 VAR_019850 disease phenotype-associated VAR_019850 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_019851 commonName VAR_019851 VAR_019851 disease phenotype-associated VAR_019851 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_019852 commonName VAR_019852 VAR_019852 disease phenotype-associated VAR_019852 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_019853 commonName VAR_019853 VAR_019853 disease phenotype-associated VAR_019853 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_019854 commonName VAR_019854 VAR_019854 disease phenotype-associated VAR_019854 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_019855 commonName VAR_019855 VAR_019855 disease phenotype-associated VAR_019855 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_019856 commonName VAR_019856 VAR_019856 disease phenotype-associated VAR_019856 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_019857 commonName VAR_019857 VAR_019857 disease phenotype-associated VAR_019857 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_019858 commonName VAR_019858 VAR_019858 disease phenotype-associated VAR_019858 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_019859 commonName VAR_019859 VAR_019859 disease phenotype-associated VAR_019859 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_019860 commonName VAR_019860 VAR_019860 disease phenotype-associated VAR_019860 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_019861 commonName VAR_019861 VAR_019861 disease phenotype-associated VAR_019861 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_019862 commonName VAR_019862 VAR_019862 disease phenotype-associated VAR_019862 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_019863 commonName VAR_019863 VAR_019863 disease phenotype-associated VAR_019863 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_019865 commonName VAR_019865 VAR_019865 disease phenotype-associated VAR_019865 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_019866 commonName VAR_019866 VAR_019866 disease phenotype-associated VAR_019866 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_019867 commonName VAR_019867 VAR_019867 disease phenotype-associated VAR_019867 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_019868 commonName VAR_019868 VAR_019868 disease phenotype-associated VAR_019868 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_019869 commonName VAR_019869 VAR_019869 disease phenotype-associated VAR_019869 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_019870 commonName VAR_019870 VAR_019870 disease not phenotype-associated VAR_019871 commonName VAR_019871 VAR_019871 disease phenotype-associated VAR_019871 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_019872 commonName VAR_019872 VAR_019872 disease phenotype-associated VAR_019872 phenoCommon Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690] VAR_019873 commonName VAR_019873 VAR_019873 disease phenotype-associated VAR_019873 phenoCommon Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690] VAR_019874 commonName VAR_019874 VAR_019874 disease phenotype-associated VAR_019874 phenoCommon Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690] VAR_019876 commonName VAR_019876 VAR_019876 disease phenotype-associated VAR_019876 phenoCommon Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690] VAR_019881 commonName VAR_019881 VAR_019881 disease not phenotype-associated VAR_019882 commonName VAR_019882 VAR_019882 disease phenotype-associated VAR_019882 phenoCommon Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078] VAR_019883 commonName VAR_019883 VAR_019883 disease phenotype-associated VAR_019883 phenoCommon Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078] VAR_019884 commonName VAR_019884 VAR_019884 disease phenotype-associated VAR_019884 phenoCommon Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078] VAR_019885 commonName VAR_019885 VAR_019885 disease phenotype-associated VAR_019885 phenoCommon Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078] VAR_019886 commonName VAR_019886 VAR_019886 disease phenotype-associated VAR_019886 phenoCommon Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078] VAR_019887 commonName VAR_019887 VAR_019887 disease not phenotype-associated VAR_019888 commonName VAR_019888 VAR_019888 disease phenotype-associated VAR_019888 phenoCommon Spondyloepimetaphyseal dysplasia MATN3-related (SEMD-MATN3) [MIM:608728] VAR_019902 commonName VAR_019902 VAR_019902 disease not phenotype-associated VAR_019903 commonName VAR_019903 VAR_019903 disease not phenotype-associated VAR_019904 commonName VAR_019904 VAR_019904 disease not phenotype-associated VAR_019905 commonName VAR_019905 VAR_019905 disease not phenotype-associated VAR_019906 commonName VAR_019906 VAR_019906 disease not phenotype-associated VAR_019907 commonName VAR_019907 VAR_019907 disease not phenotype-associated VAR_019908 commonName VAR_019908 VAR_019908 disease not phenotype-associated VAR_019909 commonName VAR_019909 VAR_019909 disease not phenotype-associated VAR_019910 commonName VAR_019910 VAR_019910 disease not phenotype-associated VAR_019913 commonName VAR_019913 VAR_019913 disease not phenotype-associated VAR_019914 commonName VAR_019914 VAR_019914 disease not phenotype-associated VAR_019915 commonName VAR_019915 VAR_019915 disease not phenotype-associated VAR_019920 commonName VAR_019920 VAR_019920 disease not phenotype-associated VAR_019921 commonName VAR_019921 VAR_019921 disease not phenotype-associated VAR_019922 commonName VAR_019922 VAR_019922 disease not phenotype-associated VAR_019923 commonName VAR_019923 VAR_019923 disease not phenotype-associated VAR_019924 commonName VAR_019924 VAR_019924 disease not phenotype-associated VAR_019925 commonName VAR_019925 VAR_019925 disease not phenotype-associated VAR_019926 commonName VAR_019926 VAR_019926 disease not phenotype-associated VAR_019928 commonName VAR_019928 VAR_019928 disease not phenotype-associated VAR_019929 commonName VAR_019929 VAR_019929 disease not phenotype-associated VAR_019931 commonName VAR_019931 VAR_019931 disease not phenotype-associated VAR_019932 commonName VAR_019932 VAR_019932 disease not phenotype-associated VAR_019933 commonName VAR_019933 VAR_019933 disease not phenotype-associated VAR_019934 commonName VAR_019934 VAR_019934 disease phenotype-associated VAR_019934 phenoCommon Alternating hemiplegia of childhood (AHC) [MIM:104290] VAR_019935 commonName VAR_019935 VAR_019935 disease phenotype-associated VAR_019935 phenoCommon Familial hemiplegic migraine type 2 (FHM2) [MIM:602481] VAR_019936 commonName VAR_019936 VAR_019936 disease phenotype-associated VAR_019936 phenoCommon Familial hemiplegic migraine type 2 (FHM2) [MIM:602481] VAR_019937 commonName VAR_019937 VAR_019937 disease phenotype-associated VAR_019937 phenoCommon Familial hemiplegic migraine type 2 (FHM2) [MIM:602481] VAR_019938 commonName VAR_019938 VAR_019938 disease phenotype-associated VAR_019938 phenoCommon Familial hemiplegic migraine type 2 (FHM2) [MIM:602481] VAR_019939 commonName VAR_019939 VAR_019939 disease not phenotype-associated VAR_019940 commonName VAR_019940 VAR_019940 disease not phenotype-associated VAR_019941 commonName VAR_019941 VAR_019941 disease phenotype-associated VAR_019941 phenoCommon Mental retardation X-linked type 45 (MRX45) [MIM:300498] VAR_019942 commonName VAR_019942 VAR_019942 disease not phenotype-associated VAR_019943 commonName VAR_019943 VAR_019943 disease not phenotype-associated VAR_019944 commonName VAR_019944 VAR_019944 disease not phenotype-associated VAR_019951 commonName VAR_019951 VAR_019951 disease not phenotype-associated VAR_019952 commonName VAR_019952 VAR_019952 disease not phenotype-associated VAR_019953 commonName VAR_019953 VAR_019953 disease not phenotype-associated VAR_019954 commonName VAR_019954 VAR_019954 disease not phenotype-associated VAR_019955 commonName VAR_019955 VAR_019955 disease not phenotype-associated VAR_019956 commonName VAR_019956 VAR_019956 disease not phenotype-associated VAR_019957 commonName VAR_019957 VAR_019957 disease not phenotype-associated VAR_019958 commonName VAR_019958 VAR_019958 disease not phenotype-associated VAR_019959 commonName VAR_019959 VAR_019959 disease not phenotype-associated VAR_019960 commonName VAR_019960 VAR_019960 disease not phenotype-associated VAR_019961 commonName VAR_019961 VAR_019961 disease not phenotype-associated VAR_019963 commonName VAR_019963 VAR_019963 disease phenotype-associated VAR_019963 phenoCommon Hypomagnesemia type 1 (HOMG1) [MIM:602014] VAR_019964 commonName VAR_019964 VAR_019964 disease not phenotype-associated VAR_019965 commonName VAR_019965 VAR_019965 disease not phenotype-associated VAR_019966 commonName VAR_019966 VAR_019966 disease not phenotype-associated VAR_019967 commonName VAR_019967 VAR_019967 disease not phenotype-associated VAR_019968 commonName VAR_019968 VAR_019968 disease not phenotype-associated VAR_019969 commonName VAR_019969 VAR_019969 disease not phenotype-associated VAR_019970 commonName VAR_019970 VAR_019970 disease not phenotype-associated VAR_019971 commonName VAR_019971 VAR_019971 disease not phenotype-associated VAR_019972 commonName VAR_019972 VAR_019972 disease not phenotype-associated VAR_019973 commonName VAR_019973 VAR_019973 disease not phenotype-associated VAR_019974 commonName VAR_019974 VAR_019974 disease not phenotype-associated VAR_019975 commonName VAR_019975 VAR_019975 disease not phenotype-associated VAR_019976 commonName VAR_019976 VAR_019976 disease not phenotype-associated VAR_019977 commonName VAR_019977 VAR_019977 disease not phenotype-associated VAR_019979 commonName VAR_019979 VAR_019979 disease not phenotype-associated VAR_019980 commonName VAR_019980 VAR_019980 disease not phenotype-associated VAR_019981 commonName VAR_019981 VAR_019981 disease not phenotype-associated VAR_019982 commonName VAR_019982 VAR_019982 disease not phenotype-associated VAR_019983 commonName VAR_019983 VAR_019983 disease not phenotype-associated VAR_019985 commonName VAR_019985 VAR_019985 disease not phenotype-associated VAR_019986 commonName VAR_019986 VAR_019986 disease not phenotype-associated VAR_019987 commonName VAR_019987 VAR_019987 disease not phenotype-associated VAR_019990 commonName VAR_019990 VAR_019990 disease not phenotype-associated VAR_019991 commonName VAR_019991 VAR_019991 disease not phenotype-associated VAR_019992 commonName VAR_019992 VAR_019992 disease not phenotype-associated VAR_019993 commonName VAR_019993 VAR_019993 disease not phenotype-associated VAR_019994 commonName VAR_019994 VAR_019994 disease not phenotype-associated VAR_019995 commonName VAR_019995 VAR_019995 disease not phenotype-associated VAR_019996 commonName VAR_019996 VAR_019996 disease not phenotype-associated VAR_019997 commonName VAR_019997 VAR_019997 disease not phenotype-associated VAR_019998 commonName VAR_019998 VAR_019998 disease not phenotype-associated VAR_019999 commonName VAR_019999 VAR_019999 disease not phenotype-associated VAR_020001 commonName VAR_020001 VAR_020001 disease not phenotype-associated VAR_020002 commonName VAR_020002 VAR_020002 disease not phenotype-associated VAR_020003 commonName VAR_020003 VAR_020003 disease not phenotype-associated VAR_020004 commonName VAR_020004 VAR_020004 disease not phenotype-associated VAR_020005 commonName VAR_020005 VAR_020005 disease not phenotype-associated VAR_020006 commonName VAR_020006 VAR_020006 disease not phenotype-associated VAR_020007 commonName VAR_020007 VAR_020007 disease not phenotype-associated VAR_020008 commonName VAR_020008 VAR_020008 disease not phenotype-associated VAR_020009 commonName VAR_020009 VAR_020009 disease not phenotype-associated VAR_020010 commonName VAR_020010 VAR_020010 disease not phenotype-associated VAR_020011 commonName VAR_020011 VAR_020011 disease not phenotype-associated VAR_020012 commonName VAR_020012 VAR_020012 disease not phenotype-associated VAR_020013 commonName VAR_020013 VAR_020013 disease not phenotype-associated VAR_020015 commonName VAR_020015 VAR_020015 disease not phenotype-associated VAR_020016 commonName VAR_020016 VAR_020016 disease not phenotype-associated VAR_020017 commonName VAR_020017 VAR_020017 disease not phenotype-associated VAR_020018 commonName VAR_020018 VAR_020018 disease not phenotype-associated VAR_020019 commonName VAR_020019 VAR_020019 disease not phenotype-associated VAR_020020 commonName VAR_020020 VAR_020020 disease not phenotype-associated VAR_020021 commonName VAR_020021 VAR_020021 disease not phenotype-associated VAR_020022 commonName VAR_020022 VAR_020022 disease not phenotype-associated VAR_020023 commonName VAR_020023 VAR_020023 disease not phenotype-associated VAR_020024 commonName VAR_020024 VAR_020024 disease not phenotype-associated VAR_020025 commonName VAR_020025 VAR_020025 disease not phenotype-associated VAR_020026 commonName VAR_020026 VAR_020026 disease not phenotype-associated VAR_020028 commonName VAR_020028 VAR_020028 disease not phenotype-associated VAR_020029 commonName VAR_020029 VAR_020029 disease not phenotype-associated VAR_020030 commonName VAR_020030 VAR_020030 disease not phenotype-associated VAR_020031 commonName VAR_020031 VAR_020031 disease not phenotype-associated VAR_020032 commonName VAR_020032 VAR_020032 disease not phenotype-associated VAR_020033 commonName VAR_020033 VAR_020033 disease not phenotype-associated VAR_020034 commonName VAR_020034 VAR_020034 disease not phenotype-associated VAR_020035 commonName VAR_020035 VAR_020035 disease not phenotype-associated VAR_020037 commonName VAR_020037 VAR_020037 disease not phenotype-associated VAR_020038 commonName VAR_020038 VAR_020038 disease not phenotype-associated VAR_020039 commonName VAR_020039 VAR_020039 disease not phenotype-associated VAR_020041 commonName VAR_020041 VAR_020041 disease not phenotype-associated VAR_020042 commonName VAR_020042 VAR_020042 disease not phenotype-associated VAR_020044 commonName VAR_020044 VAR_020044 disease not phenotype-associated VAR_020045 commonName VAR_020045 VAR_020045 disease not phenotype-associated VAR_020047 commonName VAR_020047 VAR_020047 disease not phenotype-associated VAR_020048 commonName VAR_020048 VAR_020048 disease not phenotype-associated VAR_020049 commonName VAR_020049 VAR_020049 disease not phenotype-associated VAR_020050 commonName VAR_020050 VAR_020050 disease not phenotype-associated VAR_020051 commonName VAR_020051 VAR_020051 disease not phenotype-associated VAR_020052 commonName VAR_020052 VAR_020052 disease not phenotype-associated VAR_020053 commonName VAR_020053 VAR_020053 disease not phenotype-associated VAR_020054 commonName VAR_020054 VAR_020054 disease not phenotype-associated VAR_020055 commonName VAR_020055 VAR_020055 disease not phenotype-associated VAR_020056 commonName VAR_020056 VAR_020056 disease not phenotype-associated VAR_020057 commonName VAR_020057 VAR_020057 disease not phenotype-associated VAR_020058 commonName VAR_020058 VAR_020058 disease not phenotype-associated VAR_020059 commonName VAR_020059 VAR_020059 disease not phenotype-associated VAR_020061 commonName VAR_020061 VAR_020061 disease not phenotype-associated VAR_020062 commonName VAR_020062 VAR_020062 disease not phenotype-associated VAR_020063 commonName VAR_020063 VAR_020063 disease not phenotype-associated VAR_020064 commonName VAR_020064 VAR_020064 disease not phenotype-associated VAR_020066 commonName VAR_020066 VAR_020066 disease not phenotype-associated VAR_020067 commonName VAR_020067 VAR_020067 disease not phenotype-associated VAR_020068 commonName VAR_020068 VAR_020068 disease not phenotype-associated VAR_020070 commonName VAR_020070 VAR_020070 disease not phenotype-associated VAR_020071 commonName VAR_020071 VAR_020071 disease not phenotype-associated VAR_020072 commonName VAR_020072 VAR_020072 disease not phenotype-associated VAR_020073 commonName VAR_020073 VAR_020073 disease not phenotype-associated VAR_020074 commonName VAR_020074 VAR_020074 disease not phenotype-associated VAR_020075 commonName VAR_020075 VAR_020075 disease not phenotype-associated VAR_020076 commonName VAR_020076 VAR_020076 disease not phenotype-associated VAR_020077 commonName VAR_020077 VAR_020077 disease not phenotype-associated VAR_020078 commonName VAR_020078 VAR_020078 disease not phenotype-associated VAR_020079 commonName VAR_020079 VAR_020079 disease not phenotype-associated VAR_020080 commonName VAR_020080 VAR_020080 disease not phenotype-associated VAR_020081 commonName VAR_020081 VAR_020081 disease not phenotype-associated VAR_020082 commonName VAR_020082 VAR_020082 disease not phenotype-associated VAR_020083 commonName VAR_020083 VAR_020083 disease not phenotype-associated VAR_020087 commonName VAR_020087 VAR_020087 disease not phenotype-associated VAR_020091 commonName VAR_020091 VAR_020091 disease not phenotype-associated VAR_020092 commonName VAR_020092 VAR_020092 disease not phenotype-associated VAR_020093 commonName VAR_020093 VAR_020093 disease not phenotype-associated VAR_020094 commonName VAR_020094 VAR_020094 disease not phenotype-associated VAR_020095 commonName VAR_020095 VAR_020095 disease not phenotype-associated VAR_020097 commonName VAR_020097 VAR_020097 disease not phenotype-associated VAR_020100 commonName VAR_020100 VAR_020100 disease not phenotype-associated VAR_020101 commonName VAR_020101 VAR_020101 disease not phenotype-associated VAR_020102 commonName VAR_020102 VAR_020102 disease not phenotype-associated VAR_020104 commonName VAR_020104 VAR_020104 disease not phenotype-associated VAR_020105 commonName VAR_020105 VAR_020105 disease not phenotype-associated VAR_020106 commonName VAR_020106 VAR_020106 disease not phenotype-associated VAR_020107 commonName VAR_020107 VAR_020107 disease not phenotype-associated VAR_020109 commonName VAR_020109 VAR_020109 disease not phenotype-associated VAR_020110 commonName VAR_020110 VAR_020110 disease not phenotype-associated VAR_020111 commonName VAR_020111 VAR_020111 disease not phenotype-associated VAR_020113 commonName VAR_020113 VAR_020113 disease not phenotype-associated VAR_020114 commonName VAR_020114 VAR_020114 disease not phenotype-associated VAR_020115 commonName VAR_020115 VAR_020115 disease not phenotype-associated VAR_020116 commonName VAR_020116 VAR_020116 disease not phenotype-associated VAR_020117 commonName VAR_020117 VAR_020117 disease not phenotype-associated VAR_020119 commonName VAR_020119 VAR_020119 disease not phenotype-associated VAR_020120 commonName VAR_020120 VAR_020120 disease not phenotype-associated VAR_020121 commonName VAR_020121 VAR_020121 disease not phenotype-associated VAR_020122 commonName VAR_020122 VAR_020122 disease not phenotype-associated VAR_020123 commonName VAR_020123 VAR_020123 disease not phenotype-associated VAR_020124 commonName VAR_020124 VAR_020124 disease not phenotype-associated VAR_020125 commonName VAR_020125 VAR_020125 disease not phenotype-associated VAR_020126 commonName VAR_020126 VAR_020126 disease not phenotype-associated VAR_020128 commonName VAR_020128 VAR_020128 disease not phenotype-associated VAR_020130 commonName VAR_020130 VAR_020130 disease not phenotype-associated VAR_020131 commonName VAR_020131 VAR_020131 disease not phenotype-associated VAR_020132 commonName VAR_020132 VAR_020132 disease not phenotype-associated VAR_020133 commonName VAR_020133 VAR_020133 disease not phenotype-associated VAR_020134 commonName VAR_020134 VAR_020134 disease not phenotype-associated VAR_020141 commonName VAR_020141 VAR_020141 disease not phenotype-associated VAR_020142 commonName VAR_020142 VAR_020142 disease not phenotype-associated VAR_020143 commonName VAR_020143 VAR_020143 disease not phenotype-associated VAR_020144 commonName VAR_020144 VAR_020144 disease not phenotype-associated VAR_020145 commonName VAR_020145 VAR_020145 disease not phenotype-associated VAR_020146 commonName VAR_020146 VAR_020146 disease not phenotype-associated VAR_020148 commonName VAR_020148 VAR_020148 disease not phenotype-associated VAR_020149 commonName VAR_020149 VAR_020149 disease not phenotype-associated VAR_020150 commonName VAR_020150 VAR_020150 disease not phenotype-associated VAR_020152 commonName VAR_020152 VAR_020152 disease not phenotype-associated VAR_020153 commonName VAR_020153 VAR_020153 disease not phenotype-associated VAR_020154 commonName VAR_020154 VAR_020154 disease not phenotype-associated VAR_020155 commonName VAR_020155 VAR_020155 disease not phenotype-associated VAR_020156 commonName VAR_020156 VAR_020156 disease not phenotype-associated VAR_020157 commonName VAR_020157 VAR_020157 disease not phenotype-associated VAR_020158 commonName VAR_020158 VAR_020158 disease not phenotype-associated VAR_020161 commonName VAR_020161 VAR_020161 disease not phenotype-associated VAR_020162 commonName VAR_020162 VAR_020162 disease not phenotype-associated VAR_020163 commonName VAR_020163 VAR_020163 disease not phenotype-associated VAR_020164 commonName VAR_020164 VAR_020164 disease not phenotype-associated VAR_020165 commonName VAR_020165 VAR_020165 disease not phenotype-associated VAR_020166 commonName VAR_020166 VAR_020166 disease not phenotype-associated VAR_020167 commonName VAR_020167 VAR_020167 disease not phenotype-associated VAR_020168 commonName VAR_020168 VAR_020168 disease not phenotype-associated VAR_020169 commonName VAR_020169 VAR_020169 disease not phenotype-associated VAR_020173 commonName VAR_020173 VAR_020173 disease not phenotype-associated VAR_020174 commonName VAR_020174 VAR_020174 disease not phenotype-associated VAR_020175 commonName VAR_020175 VAR_020175 disease not phenotype-associated VAR_020176 commonName VAR_020176 VAR_020176 disease not phenotype-associated VAR_020177 commonName VAR_020177 VAR_020177 disease not phenotype-associated VAR_020179 commonName VAR_020179 VAR_020179 disease not phenotype-associated VAR_020180 commonName VAR_020180 VAR_020180 disease not phenotype-associated VAR_020181 commonName VAR_020181 VAR_020181 disease not phenotype-associated VAR_020182 commonName VAR_020182 VAR_020182 disease not phenotype-associated VAR_020183 commonName VAR_020183 VAR_020183 disease not phenotype-associated VAR_020184 commonName VAR_020184 VAR_020184 disease not phenotype-associated VAR_020185 commonName VAR_020185 VAR_020185 disease not phenotype-associated VAR_020186 commonName VAR_020186 VAR_020186 disease not phenotype-associated VAR_020187 commonName VAR_020187 VAR_020187 disease not phenotype-associated VAR_020188 commonName VAR_020188 VAR_020188 disease not phenotype-associated VAR_020189 commonName VAR_020189 VAR_020189 disease not phenotype-associated VAR_020190 commonName VAR_020190 VAR_020190 disease not phenotype-associated VAR_020191 commonName VAR_020191 VAR_020191 disease not phenotype-associated VAR_020192 commonName VAR_020192 VAR_020192 disease not phenotype-associated VAR_020193 commonName VAR_020193 VAR_020193 disease not phenotype-associated VAR_020194 commonName VAR_020194 VAR_020194 disease not phenotype-associated VAR_020195 commonName VAR_020195 VAR_020195 disease not phenotype-associated VAR_020196 commonName VAR_020196 VAR_020196 disease not phenotype-associated VAR_020198 commonName VAR_020198 VAR_020198 disease not phenotype-associated VAR_020199 commonName VAR_020199 VAR_020199 disease not phenotype-associated VAR_020200 commonName VAR_020200 VAR_020200 disease not phenotype-associated VAR_020201 commonName VAR_020201 VAR_020201 disease not phenotype-associated VAR_020202 commonName VAR_020202 VAR_020202 disease not phenotype-associated VAR_020203 commonName VAR_020203 VAR_020203 disease not phenotype-associated VAR_020204 commonName VAR_020204 VAR_020204 disease not phenotype-associated VAR_020205 commonName VAR_020205 VAR_020205 disease not phenotype-associated VAR_020207 commonName VAR_020207 VAR_020207 disease not phenotype-associated VAR_020209 commonName VAR_020209 VAR_020209 disease not phenotype-associated VAR_020210 commonName VAR_020210 VAR_020210 disease not phenotype-associated VAR_020212 commonName VAR_020212 VAR_020212 disease not phenotype-associated VAR_020213 commonName VAR_020213 VAR_020213 disease not phenotype-associated VAR_020214 commonName VAR_020214 VAR_020214 disease not phenotype-associated VAR_020217 commonName VAR_020217 VAR_020217 disease not phenotype-associated VAR_020218 commonName VAR_020218 VAR_020218 disease not phenotype-associated VAR_020219 commonName VAR_020219 VAR_020219 disease not phenotype-associated VAR_020220 commonName VAR_020220 VAR_020220 disease not phenotype-associated VAR_020221 commonName VAR_020221 VAR_020221 disease not phenotype-associated VAR_020222 commonName VAR_020222 VAR_020222 disease not phenotype-associated VAR_020223 commonName VAR_020223 VAR_020223 disease not phenotype-associated VAR_020225 commonName VAR_020225 VAR_020225 disease not phenotype-associated VAR_020226 commonName VAR_020226 VAR_020226 disease not phenotype-associated VAR_020227 commonName VAR_020227 VAR_020227 disease not phenotype-associated VAR_020228 commonName VAR_020228 VAR_020228 disease not phenotype-associated VAR_020229 commonName VAR_020229 VAR_020229 disease not phenotype-associated VAR_020230 commonName VAR_020230 VAR_020230 disease not phenotype-associated VAR_020231 commonName VAR_020231 VAR_020231 disease not phenotype-associated VAR_020232 commonName VAR_020232 VAR_020232 disease not phenotype-associated VAR_020233 commonName VAR_020233 VAR_020233 disease not phenotype-associated VAR_020234 commonName VAR_020234 VAR_020234 disease not phenotype-associated VAR_020235 commonName VAR_020235 VAR_020235 disease not phenotype-associated VAR_020237 commonName VAR_020237 VAR_020237 disease not phenotype-associated VAR_020239 commonName VAR_020239 VAR_020239 disease not phenotype-associated VAR_020240 commonName VAR_020240 VAR_020240 disease not phenotype-associated VAR_020241 commonName VAR_020241 VAR_020241 disease not phenotype-associated VAR_020242 commonName VAR_020242 VAR_020242 disease not phenotype-associated VAR_020243 commonName VAR_020243 VAR_020243 disease not phenotype-associated VAR_020244 commonName VAR_020244 VAR_020244 disease not phenotype-associated VAR_020245 commonName VAR_020245 VAR_020245 disease not phenotype-associated VAR_020246 commonName VAR_020246 VAR_020246 disease not phenotype-associated VAR_020247 commonName VAR_020247 VAR_020247 disease not phenotype-associated VAR_020248 commonName VAR_020248 VAR_020248 disease not phenotype-associated VAR_020249 commonName VAR_020249 VAR_020249 disease not phenotype-associated VAR_020250 commonName VAR_020250 VAR_020250 disease not phenotype-associated VAR_020251 commonName VAR_020251 VAR_020251 disease not phenotype-associated VAR_020252 commonName VAR_020252 VAR_020252 disease not phenotype-associated VAR_020253 commonName VAR_020253 VAR_020253 disease not phenotype-associated VAR_020254 commonName VAR_020254 VAR_020254 disease not phenotype-associated VAR_020255 commonName VAR_020255 VAR_020255 disease not phenotype-associated VAR_020256 commonName VAR_020256 VAR_020256 disease not phenotype-associated VAR_020257 commonName VAR_020257 VAR_020257 disease not phenotype-associated VAR_020258 commonName VAR_020258 VAR_020258 disease not phenotype-associated VAR_020259 commonName VAR_020259 VAR_020259 disease not phenotype-associated VAR_020260 commonName VAR_020260 VAR_020260 disease not phenotype-associated VAR_020261 commonName VAR_020261 VAR_020261 disease not phenotype-associated VAR_020262 commonName VAR_020262 VAR_020262 disease not phenotype-associated VAR_020263 commonName VAR_020263 VAR_020263 disease not phenotype-associated VAR_020264 commonName VAR_020264 VAR_020264 disease not phenotype-associated VAR_020265 commonName VAR_020265 VAR_020265 disease not phenotype-associated VAR_020266 commonName VAR_020266 VAR_020266 disease not phenotype-associated VAR_020267 commonName VAR_020267 VAR_020267 disease not phenotype-associated VAR_020268 commonName VAR_020268 VAR_020268 disease not phenotype-associated VAR_020269 commonName VAR_020269 VAR_020269 disease not phenotype-associated VAR_020270 commonName VAR_020270 VAR_020270 disease not phenotype-associated VAR_020271 commonName VAR_020271 VAR_020271 disease not phenotype-associated VAR_020272 commonName VAR_020272 VAR_020272 disease not phenotype-associated VAR_020274 commonName VAR_020274 VAR_020274 disease not phenotype-associated VAR_020275 commonName VAR_020275 VAR_020275 disease not phenotype-associated VAR_020276 commonName VAR_020276 VAR_020276 disease not phenotype-associated VAR_020277 commonName VAR_020277 VAR_020277 disease not phenotype-associated VAR_020278 commonName VAR_020278 VAR_020278 disease not phenotype-associated VAR_020279 commonName VAR_020279 VAR_020279 disease not phenotype-associated VAR_020280 commonName VAR_020280 VAR_020280 disease not phenotype-associated VAR_020281 commonName VAR_020281 VAR_020281 disease not phenotype-associated VAR_020282 commonName VAR_020282 VAR_020282 disease not phenotype-associated VAR_020283 commonName VAR_020283 VAR_020283 disease not phenotype-associated VAR_020284 commonName VAR_020284 VAR_020284 disease not phenotype-associated VAR_020286 commonName VAR_020286 VAR_020286 disease not phenotype-associated VAR_020287 commonName VAR_020287 VAR_020287 disease not phenotype-associated VAR_020288 commonName VAR_020288 VAR_020288 disease not phenotype-associated VAR_020289 commonName VAR_020289 VAR_020289 disease not phenotype-associated VAR_020290 commonName VAR_020290 VAR_020290 disease not phenotype-associated VAR_020291 commonName VAR_020291 VAR_020291 disease not phenotype-associated VAR_020292 commonName VAR_020292 VAR_020292 disease not phenotype-associated VAR_020294 commonName VAR_020294 VAR_020294 disease not phenotype-associated VAR_020295 commonName VAR_020295 VAR_020295 disease not phenotype-associated VAR_020296 commonName VAR_020296 VAR_020296 disease not phenotype-associated VAR_020298 commonName VAR_020298 VAR_020298 disease not phenotype-associated VAR_020299 commonName VAR_020299 VAR_020299 disease not phenotype-associated VAR_020300 commonName VAR_020300 VAR_020300 disease not phenotype-associated VAR_020301 commonName VAR_020301 VAR_020301 disease not phenotype-associated VAR_020302 commonName VAR_020302 VAR_020302 disease not phenotype-associated VAR_020303 commonName VAR_020303 VAR_020303 disease not phenotype-associated VAR_020304 commonName VAR_020304 VAR_020304 disease not phenotype-associated VAR_020305 commonName VAR_020305 VAR_020305 disease not phenotype-associated VAR_020306 commonName VAR_020306 VAR_020306 disease not phenotype-associated VAR_020307 commonName VAR_020307 VAR_020307 disease not phenotype-associated VAR_020308 commonName VAR_020308 VAR_020308 disease not phenotype-associated VAR_020309 commonName VAR_020309 VAR_020309 disease not phenotype-associated VAR_020310 commonName VAR_020310 VAR_020310 disease not phenotype-associated VAR_020311 commonName VAR_020311 VAR_020311 disease not phenotype-associated VAR_020312 commonName VAR_020312 VAR_020312 disease not phenotype-associated VAR_020313 commonName VAR_020313 VAR_020313 disease not phenotype-associated VAR_020315 commonName VAR_020315 VAR_020315 disease not phenotype-associated VAR_020316 commonName VAR_020316 VAR_020316 disease not phenotype-associated VAR_020317 commonName VAR_020317 VAR_020317 disease not phenotype-associated VAR_020318 commonName VAR_020318 VAR_020318 disease not phenotype-associated VAR_020319 commonName VAR_020319 VAR_020319 disease not phenotype-associated VAR_020320 commonName VAR_020320 VAR_020320 disease not phenotype-associated VAR_020321 commonName VAR_020321 VAR_020321 disease not phenotype-associated VAR_020322 commonName VAR_020322 VAR_020322 disease not phenotype-associated VAR_020323 commonName VAR_020323 VAR_020323 disease not phenotype-associated VAR_020324 commonName VAR_020324 VAR_020324 disease not phenotype-associated VAR_020325 commonName VAR_020325 VAR_020325 disease not phenotype-associated VAR_020326 commonName VAR_020326 VAR_020326 disease not phenotype-associated VAR_020327 commonName VAR_020327 VAR_020327 disease not phenotype-associated VAR_020329 commonName VAR_020329 VAR_020329 disease not phenotype-associated VAR_020330 commonName VAR_020330 VAR_020330 disease not phenotype-associated VAR_020332 commonName VAR_020332 VAR_020332 disease not phenotype-associated VAR_020333 commonName VAR_020333 VAR_020333 disease not phenotype-associated VAR_020334 commonName VAR_020334 VAR_020334 disease not phenotype-associated VAR_020335 commonName VAR_020335 VAR_020335 disease not phenotype-associated VAR_020336 commonName VAR_020336 VAR_020336 disease not phenotype-associated VAR_020337 commonName VAR_020337 VAR_020337 disease not phenotype-associated VAR_020338 commonName VAR_020338 VAR_020338 disease not phenotype-associated VAR_020339 commonName VAR_020339 VAR_020339 disease not phenotype-associated VAR_020340 commonName VAR_020340 VAR_020340 disease not phenotype-associated VAR_020342 commonName VAR_020342 VAR_020342 disease not phenotype-associated VAR_020343 commonName VAR_020343 VAR_020343 disease not phenotype-associated VAR_020344 commonName VAR_020344 VAR_020344 disease not phenotype-associated VAR_020345 commonName VAR_020345 VAR_020345 disease not phenotype-associated VAR_020346 commonName VAR_020346 VAR_020346 disease not phenotype-associated VAR_020347 commonName VAR_020347 VAR_020347 disease phenotype-associated VAR_020347 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_020348 commonName VAR_020348 VAR_020348 disease not phenotype-associated VAR_020349 commonName VAR_020349 VAR_020349 disease not phenotype-associated VAR_020350 commonName VAR_020350 VAR_020350 disease not phenotype-associated VAR_020351 commonName VAR_020351 VAR_020351 disease not phenotype-associated VAR_020352 commonName VAR_020352 VAR_020352 disease not phenotype-associated VAR_020353 commonName VAR_020353 VAR_020353 disease not phenotype-associated VAR_020355 commonName VAR_020355 VAR_020355 disease not phenotype-associated VAR_020356 commonName VAR_020356 VAR_020356 disease not phenotype-associated VAR_020357 commonName VAR_020357 VAR_020357 disease not phenotype-associated VAR_020358 commonName VAR_020358 VAR_020358 disease not phenotype-associated VAR_020359 commonName VAR_020359 VAR_020359 disease not phenotype-associated VAR_020360 commonName VAR_020360 VAR_020360 disease not phenotype-associated VAR_020361 commonName VAR_020361 VAR_020361 disease not phenotype-associated VAR_020362 commonName VAR_020362 VAR_020362 disease not phenotype-associated VAR_020363 commonName VAR_020363 VAR_020363 disease not phenotype-associated VAR_020364 commonName VAR_020364 VAR_020364 disease not phenotype-associated VAR_020365 commonName VAR_020365 VAR_020365 disease not phenotype-associated VAR_020366 commonName VAR_020366 VAR_020366 disease not phenotype-associated VAR_020367 commonName VAR_020367 VAR_020367 disease not phenotype-associated VAR_020368 commonName VAR_020368 VAR_020368 disease not phenotype-associated VAR_020369 commonName VAR_020369 VAR_020369 disease not phenotype-associated VAR_020370 commonName VAR_020370 VAR_020370 disease not phenotype-associated VAR_020371 commonName VAR_020371 VAR_020371 disease not phenotype-associated VAR_020372 commonName VAR_020372 VAR_020372 disease not phenotype-associated VAR_020373 commonName VAR_020373 VAR_020373 disease not phenotype-associated VAR_020374 commonName VAR_020374 VAR_020374 disease not phenotype-associated VAR_020375 commonName VAR_020375 VAR_020375 disease not phenotype-associated VAR_020376 commonName VAR_020376 VAR_020376 disease not phenotype-associated VAR_020377 commonName VAR_020377 VAR_020377 disease not phenotype-associated VAR_020378 commonName VAR_020378 VAR_020378 disease not phenotype-associated VAR_020379 commonName VAR_020379 VAR_020379 disease not phenotype-associated VAR_020380 commonName VAR_020380 VAR_020380 disease not phenotype-associated VAR_020381 commonName VAR_020381 VAR_020381 disease not phenotype-associated VAR_020382 commonName VAR_020382 VAR_020382 disease not phenotype-associated VAR_020384 commonName VAR_020384 VAR_020384 disease not phenotype-associated VAR_020387 commonName VAR_020387 VAR_020387 disease not phenotype-associated VAR_020388 commonName VAR_020388 VAR_020388 disease not phenotype-associated VAR_020389 commonName VAR_020389 VAR_020389 disease not phenotype-associated VAR_020390 commonName VAR_020390 VAR_020390 disease not phenotype-associated VAR_020391 commonName VAR_020391 VAR_020391 disease not phenotype-associated VAR_020392 commonName VAR_020392 VAR_020392 disease not phenotype-associated VAR_020393 commonName VAR_020393 VAR_020393 disease not phenotype-associated VAR_020394 commonName VAR_020394 VAR_020394 disease not phenotype-associated VAR_020395 commonName VAR_020395 VAR_020395 disease not phenotype-associated VAR_020396 commonName VAR_020396 VAR_020396 disease not phenotype-associated VAR_020397 commonName VAR_020397 VAR_020397 disease not phenotype-associated VAR_020398 commonName VAR_020398 VAR_020398 disease not phenotype-associated VAR_020399 commonName VAR_020399 VAR_020399 disease not phenotype-associated VAR_020401 commonName VAR_020401 VAR_020401 disease not phenotype-associated VAR_020402 commonName VAR_020402 VAR_020402 disease not phenotype-associated VAR_020403 commonName VAR_020403 VAR_020403 disease not phenotype-associated VAR_020404 commonName VAR_020404 VAR_020404 disease not phenotype-associated VAR_020405 commonName VAR_020405 VAR_020405 disease not phenotype-associated VAR_020406 commonName VAR_020406 VAR_020406 disease not phenotype-associated VAR_020407 commonName VAR_020407 VAR_020407 disease not phenotype-associated VAR_020408 commonName VAR_020408 VAR_020408 disease not phenotype-associated VAR_020409 commonName VAR_020409 VAR_020409 disease not phenotype-associated VAR_020410 commonName VAR_020410 VAR_020410 disease not phenotype-associated VAR_020411 commonName VAR_020411 VAR_020411 disease not phenotype-associated VAR_020412 commonName VAR_020412 VAR_020412 disease not phenotype-associated VAR_020413 commonName VAR_020413 VAR_020413 disease not phenotype-associated VAR_020415 commonName VAR_020415 VAR_020415 disease not phenotype-associated VAR_020416 commonName VAR_020416 VAR_020416 disease not phenotype-associated VAR_020417 commonName VAR_020417 VAR_020417 disease not phenotype-associated VAR_020419 commonName VAR_020419 VAR_020419 disease not phenotype-associated VAR_020420 commonName VAR_020420 VAR_020420 disease not phenotype-associated VAR_020421 commonName VAR_020421 VAR_020421 disease not phenotype-associated VAR_020422 commonName VAR_020422 VAR_020422 disease not phenotype-associated VAR_020423 commonName VAR_020423 VAR_020423 disease not phenotype-associated VAR_020424 commonName VAR_020424 VAR_020424 disease not phenotype-associated VAR_020425 commonName VAR_020425 VAR_020425 disease not phenotype-associated VAR_020426 commonName VAR_020426 VAR_020426 disease not phenotype-associated VAR_020429 commonName VAR_020429 VAR_020429 disease not phenotype-associated VAR_020430 commonName VAR_020430 VAR_020430 disease not phenotype-associated VAR_020431 commonName VAR_020431 VAR_020431 disease not phenotype-associated VAR_020432 commonName VAR_020432 VAR_020432 disease not phenotype-associated VAR_020433 commonName VAR_020433 VAR_020433 disease not phenotype-associated VAR_020434 commonName VAR_020434 VAR_020434 disease not phenotype-associated VAR_020438 commonName VAR_020438 VAR_020438 disease not phenotype-associated VAR_020439 commonName VAR_020439 VAR_020439 disease not phenotype-associated VAR_020440 commonName VAR_020440 VAR_020440 disease not phenotype-associated VAR_020441 commonName VAR_020441 VAR_020441 disease not phenotype-associated VAR_020442 commonName VAR_020442 VAR_020442 disease not phenotype-associated VAR_020443 commonName VAR_020443 VAR_020443 disease not phenotype-associated VAR_020444 commonName VAR_020444 VAR_020444 disease not phenotype-associated VAR_020445 commonName VAR_020445 VAR_020445 disease not phenotype-associated VAR_020446 commonName VAR_020446 VAR_020446 disease not phenotype-associated VAR_020447 commonName VAR_020447 VAR_020447 disease not phenotype-associated VAR_020448 commonName VAR_020448 VAR_020448 disease not phenotype-associated VAR_020449 commonName VAR_020449 VAR_020449 disease not phenotype-associated VAR_020450 commonName VAR_020450 VAR_020450 disease not phenotype-associated VAR_020451 commonName VAR_020451 VAR_020451 disease not phenotype-associated VAR_020452 commonName VAR_020452 VAR_020452 disease phenotype-associated VAR_020452 phenoCommon Aminoacylase-1 deficiency (ACY1D) [MIM:609924] VAR_020453 commonName VAR_020453 VAR_020453 disease not phenotype-associated VAR_020454 commonName VAR_020454 VAR_020454 disease not phenotype-associated VAR_020455 commonName VAR_020455 VAR_020455 disease not phenotype-associated VAR_020456 commonName VAR_020456 VAR_020456 disease not phenotype-associated VAR_020457 commonName VAR_020457 VAR_020457 disease not phenotype-associated VAR_020458 commonName VAR_020458 VAR_020458 disease not phenotype-associated VAR_020459 commonName VAR_020459 VAR_020459 disease not phenotype-associated VAR_020460 commonName VAR_020460 VAR_020460 disease not phenotype-associated VAR_020461 commonName VAR_020461 VAR_020461 disease not phenotype-associated VAR_020462 commonName VAR_020462 VAR_020462 disease not phenotype-associated VAR_020463 commonName VAR_020463 VAR_020463 disease not phenotype-associated VAR_020464 commonName VAR_020464 VAR_020464 disease not phenotype-associated VAR_020465 commonName VAR_020465 VAR_020465 disease not phenotype-associated VAR_020466 commonName VAR_020466 VAR_020466 disease not phenotype-associated VAR_020467 commonName VAR_020467 VAR_020467 disease not phenotype-associated VAR_020468 commonName VAR_020468 VAR_020468 disease not phenotype-associated VAR_020469 commonName VAR_020469 VAR_020469 disease not phenotype-associated VAR_020470 commonName VAR_020470 VAR_020470 disease not phenotype-associated VAR_020471 commonName VAR_020471 VAR_020471 disease not phenotype-associated VAR_020472 commonName VAR_020472 VAR_020472 disease not phenotype-associated VAR_020473 commonName VAR_020473 VAR_020473 disease not phenotype-associated VAR_020474 commonName VAR_020474 VAR_020474 disease not phenotype-associated VAR_020475 commonName VAR_020475 VAR_020475 disease not phenotype-associated VAR_020476 commonName VAR_020476 VAR_020476 disease not phenotype-associated VAR_020477 commonName VAR_020477 VAR_020477 disease not phenotype-associated VAR_020478 commonName VAR_020478 VAR_020478 disease not phenotype-associated VAR_020479 commonName VAR_020479 VAR_020479 disease not phenotype-associated VAR_020480 commonName VAR_020480 VAR_020480 disease not phenotype-associated VAR_020481 commonName VAR_020481 VAR_020481 disease not phenotype-associated VAR_020482 commonName VAR_020482 VAR_020482 disease not phenotype-associated VAR_020483 commonName VAR_020483 VAR_020483 disease not phenotype-associated VAR_020484 commonName VAR_020484 VAR_020484 disease not phenotype-associated VAR_020485 commonName VAR_020485 VAR_020485 disease not phenotype-associated VAR_020486 commonName VAR_020486 VAR_020486 disease not phenotype-associated VAR_020487 commonName VAR_020487 VAR_020487 disease not phenotype-associated VAR_020488 commonName VAR_020488 VAR_020488 disease not phenotype-associated VAR_020489 commonName VAR_020489 VAR_020489 disease not phenotype-associated VAR_020491 commonName VAR_020491 VAR_020491 disease not phenotype-associated VAR_020492 commonName VAR_020492 VAR_020492 disease phenotype-associated VAR_020492 phenoCommon Parkinson disease type 7 (PARK7) [MIM:606324] VAR_020493 commonName VAR_020493 VAR_020493 disease phenotype-associated VAR_020493 phenoCommon Parkinson disease type 7 (PARK7) [MIM:606324] VAR_020494 commonName VAR_020494 VAR_020494 disease not phenotype-associated VAR_020495 commonName VAR_020495 VAR_020495 disease phenotype-associated VAR_020495 phenoCommon Parkinson disease type 7 (PARK7) [MIM:606324] VAR_020496 commonName VAR_020496 VAR_020496 disease phenotype-associated VAR_020496 phenoCommon Parkinson disease type 7 (PARK7) [MIM:606324] VAR_020497 commonName VAR_020497 VAR_020497 disease not phenotype-associated VAR_020498 commonName VAR_020498 VAR_020498 disease phenotype-associated VAR_020498 phenoCommon Parkinson disease type 7 (PARK7) [MIM:606324] VAR_020500 commonName VAR_020500 VAR_020500 disease not phenotype-associated VAR_020501 commonName VAR_020501 VAR_020501 disease not phenotype-associated VAR_020502 commonName VAR_020502 VAR_020502 disease not phenotype-associated VAR_020503 commonName VAR_020503 VAR_020503 disease not phenotype-associated VAR_020504 commonName VAR_020504 VAR_020504 disease not phenotype-associated VAR_020505 commonName VAR_020505 VAR_020505 disease not phenotype-associated VAR_020506 commonName VAR_020506 VAR_020506 disease not phenotype-associated VAR_020507 commonName VAR_020507 VAR_020507 disease not phenotype-associated VAR_020508 commonName VAR_020508 VAR_020508 disease not phenotype-associated VAR_020509 commonName VAR_020509 VAR_020509 disease not phenotype-associated VAR_020510 commonName VAR_020510 VAR_020510 disease not phenotype-associated VAR_020511 commonName VAR_020511 VAR_020511 disease not phenotype-associated VAR_020512 commonName VAR_020512 VAR_020512 disease not phenotype-associated VAR_020513 commonName VAR_020513 VAR_020513 disease not phenotype-associated VAR_020514 commonName VAR_020514 VAR_020514 disease not phenotype-associated VAR_020516 commonName VAR_020516 VAR_020516 disease not phenotype-associated VAR_020518 commonName VAR_020518 VAR_020518 disease not phenotype-associated VAR_020519 commonName VAR_020519 VAR_020519 disease not phenotype-associated VAR_020520 commonName VAR_020520 VAR_020520 disease phenotype-associated VAR_020520 phenoCommon Familial breast-ovarian cancer type 3 (BROVCA3) [MIM:613399] VAR_020521 commonName VAR_020521 VAR_020521 disease not phenotype-associated VAR_020522 commonName VAR_020522 VAR_020522 disease not phenotype-associated VAR_020523 commonName VAR_020523 VAR_020523 disease not phenotype-associated VAR_020524 commonName VAR_020524 VAR_020524 disease not phenotype-associated VAR_020525 commonName VAR_020525 VAR_020525 disease phenotype-associated VAR_020525 phenoCommon X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352] VAR_020526 commonName VAR_020526 VAR_020526 disease phenotype-associated VAR_020526 phenoCommon X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352] VAR_020527 commonName VAR_020527 VAR_020527 disease phenotype-associated VAR_020527 phenoCommon X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352] VAR_020530 commonName VAR_020530 VAR_020530 disease not phenotype-associated VAR_020531 commonName VAR_020531 VAR_020531 disease not phenotype-associated VAR_020532 commonName VAR_020532 VAR_020532 disease not phenotype-associated VAR_020533 commonName VAR_020533 VAR_020533 disease not phenotype-associated VAR_020534 commonName VAR_020534 VAR_020534 disease not phenotype-associated VAR_020535 commonName VAR_020535 VAR_020536 commonName VAR_020536 VAR_020536 disease not phenotype-associated VAR_020537 commonName VAR_020537 VAR_020537 disease not phenotype-associated VAR_020538 commonName VAR_020538 VAR_020538 disease not phenotype-associated VAR_020539 commonName VAR_020539 VAR_020539 disease not phenotype-associated VAR_020540 commonName VAR_020540 VAR_020540 disease phenotype-associated VAR_020540 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] VAR_020541 commonName VAR_020541 VAR_020541 disease phenotype-associated VAR_020541 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] VAR_020542 commonName VAR_020542 VAR_020542 disease phenotype-associated VAR_020542 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] VAR_020543 commonName VAR_020543 VAR_020543 disease phenotype-associated VAR_020543 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] VAR_020544 commonName VAR_020544 VAR_020544 disease phenotype-associated VAR_020544 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] VAR_020545 commonName VAR_020545 VAR_020545 disease phenotype-associated VAR_020545 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] VAR_020546 commonName VAR_020546 VAR_020546 disease phenotype-associated VAR_020546 phenoCommon Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] VAR_020547 commonName VAR_020547 VAR_020547 disease not phenotype-associated VAR_020548 commonName VAR_020548 VAR_020548 disease phenotype-associated VAR_020548 phenoCommon Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] VAR_020549 commonName VAR_020549 VAR_020549 disease phenotype-associated VAR_020549 phenoCommon Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] VAR_020550 commonName VAR_020550 VAR_020550 disease phenotype-associated VAR_020550 phenoCommon Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] VAR_020551 commonName VAR_020551 VAR_020551 disease phenotype-associated VAR_020551 phenoCommon Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] VAR_020553 commonName VAR_020553 VAR_020553 disease phenotype-associated VAR_020553 phenoCommon Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] VAR_020554 commonName VAR_020554 VAR_020554 disease phenotype-associated VAR_020554 phenoCommon Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] VAR_020555 commonName VAR_020555 VAR_020555 disease phenotype-associated VAR_020555 phenoCommon Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] VAR_020556 commonName VAR_020556 VAR_020556 disease phenotype-associated VAR_020556 phenoCommon Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] VAR_020557 commonName VAR_020557 VAR_020557 disease phenotype-associated VAR_020557 phenoCommon Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] VAR_020558 commonName VAR_020558 VAR_020558 disease phenotype-associated VAR_020558 phenoCommon Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] VAR_020559 commonName VAR_020559 VAR_020559 disease phenotype-associated VAR_020559 phenoCommon Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] VAR_020560 commonName VAR_020560 VAR_020560 disease not phenotype-associated VAR_020561 commonName VAR_020561 VAR_020561 disease not phenotype-associated VAR_020565 commonName VAR_020565 VAR_020565 disease not phenotype-associated VAR_020566 commonName VAR_020566 VAR_020566 disease not phenotype-associated VAR_020567 commonName VAR_020567 VAR_020567 disease not phenotype-associated VAR_020576 commonName VAR_020576 VAR_020576 disease not phenotype-associated VAR_020577 commonName VAR_020577 VAR_020577 disease not phenotype-associated VAR_020578 commonName VAR_020578 VAR_020578 disease not phenotype-associated VAR_020579 commonName VAR_020579 VAR_020579 disease not phenotype-associated VAR_020580 commonName VAR_020580 VAR_020580 disease not phenotype-associated VAR_020581 commonName VAR_020581 VAR_020581 disease not phenotype-associated VAR_020582 commonName VAR_020582 VAR_020582 disease not phenotype-associated VAR_020583 commonName VAR_020583 VAR_020583 disease not phenotype-associated VAR_020584 commonName VAR_020584 VAR_020584 disease not phenotype-associated VAR_020585 commonName VAR_020585 VAR_020585 disease not phenotype-associated VAR_020586 commonName VAR_020586 VAR_020586 disease not phenotype-associated VAR_020587 commonName VAR_020587 VAR_020587 disease not phenotype-associated VAR_020588 commonName VAR_020588 VAR_020588 disease not phenotype-associated VAR_020590 commonName VAR_020590 VAR_020590 disease not phenotype-associated VAR_020591 commonName VAR_020591 VAR_020591 disease not phenotype-associated VAR_020592 commonName VAR_020592 VAR_020592 disease not phenotype-associated VAR_020593 commonName VAR_020593 VAR_020593 disease not phenotype-associated VAR_020597 commonName VAR_020597 VAR_020597 disease not phenotype-associated VAR_020598 commonName VAR_020598 VAR_020598 disease not phenotype-associated VAR_020599 commonName VAR_020599 VAR_020599 disease not phenotype-associated VAR_020600 commonName VAR_020600 VAR_020600 disease not phenotype-associated VAR_020601 commonName VAR_020601 VAR_020601 disease not phenotype-associated VAR_020602 commonName VAR_020602 VAR_020602 disease not phenotype-associated VAR_020603 commonName VAR_020603 VAR_020603 disease not phenotype-associated VAR_020604 commonName VAR_020604 VAR_020604 disease not phenotype-associated VAR_020605 commonName VAR_020605 VAR_020605 disease not phenotype-associated VAR_020606 commonName VAR_020606 VAR_020606 disease not phenotype-associated VAR_020607 commonName VAR_020607 VAR_020607 disease not phenotype-associated VAR_020608 commonName VAR_020608 VAR_020608 disease not phenotype-associated VAR_020609 commonName VAR_020609 VAR_020609 disease not phenotype-associated VAR_020610 commonName VAR_020610 VAR_020610 disease not phenotype-associated VAR_020611 commonName VAR_020611 VAR_020611 disease not phenotype-associated VAR_020612 commonName VAR_020612 VAR_020612 disease not phenotype-associated VAR_020613 commonName VAR_020613 VAR_020613 disease not phenotype-associated VAR_020614 commonName VAR_020614 VAR_020614 disease not phenotype-associated VAR_020616 commonName VAR_020616 VAR_020616 disease not phenotype-associated VAR_020618 commonName VAR_020618 VAR_020618 disease not phenotype-associated VAR_020619 commonName VAR_020619 VAR_020619 disease not phenotype-associated VAR_020620 commonName VAR_020620 VAR_020620 disease phenotype-associated VAR_020620 phenoCommon Glycogen storage disease type 13 (GSD13) [MIM:612932] VAR_020622 commonName VAR_020622 VAR_020622 disease phenotype-associated VAR_020622 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_020623 commonName VAR_020623 VAR_020623 disease phenotype-associated VAR_020623 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_020624 commonName VAR_020624 VAR_020624 disease phenotype-associated VAR_020624 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_020625 commonName VAR_020625 VAR_020625 disease phenotype-associated VAR_020625 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_020626 commonName VAR_020626 VAR_020626 disease phenotype-associated VAR_020626 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_020627 commonName VAR_020627 VAR_020628 commonName VAR_020628 VAR_020628 disease not phenotype-associated VAR_020629 commonName VAR_020629 VAR_020629 disease not phenotype-associated VAR_020630 commonName VAR_020630 VAR_020630 disease phenotype-associated VAR_020630 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_020631 commonName VAR_020631 VAR_020631 disease phenotype-associated VAR_020631 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_020632 commonName VAR_020632 VAR_020632 disease phenotype-associated VAR_020632 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_020633 commonName VAR_020633 VAR_020634 commonName VAR_020634 VAR_020634 disease phenotype-associated VAR_020634 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_020635 commonName VAR_020635 VAR_020636 commonName VAR_020636 VAR_020636 disease phenotype-associated VAR_020636 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_020637 commonName VAR_020637 VAR_020637 disease phenotype-associated VAR_020637 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_020638 commonName VAR_020638 VAR_020638 disease phenotype-associated VAR_020638 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_020639 commonName VAR_020639 VAR_020639 disease not phenotype-associated VAR_020640 commonName VAR_020640 VAR_020640 disease not phenotype-associated VAR_020641 commonName VAR_020641 VAR_020641 disease not phenotype-associated VAR_020642 commonName VAR_020642 VAR_020642 disease not phenotype-associated VAR_020643 commonName VAR_020643 VAR_020644 commonName VAR_020644 VAR_020645 commonName VAR_020645 VAR_020646 commonName VAR_020646 VAR_020647 commonName VAR_020647 VAR_020648 commonName VAR_020648 VAR_020649 commonName VAR_020649 VAR_020650 commonName VAR_020650 VAR_020651 commonName VAR_020651 VAR_020651 disease not phenotype-associated VAR_020652 commonName VAR_020652 VAR_020653 commonName VAR_020653 VAR_020654 commonName VAR_020654 VAR_020654 disease not phenotype-associated VAR_020655 commonName VAR_020655 VAR_020655 disease not phenotype-associated VAR_020657 commonName VAR_020657 VAR_020657 disease not phenotype-associated VAR_020658 commonName VAR_020658 VAR_020658 disease not phenotype-associated VAR_020659 commonName VAR_020659 VAR_020659 disease not phenotype-associated VAR_020660 commonName VAR_020660 VAR_020660 disease not phenotype-associated VAR_020661 commonName VAR_020661 VAR_020661 disease not phenotype-associated VAR_020662 commonName VAR_020662 VAR_020662 disease not phenotype-associated VAR_020663 commonName VAR_020663 VAR_020663 disease not phenotype-associated VAR_020664 commonName VAR_020664 VAR_020664 disease not phenotype-associated VAR_020665 commonName VAR_020665 VAR_020665 disease not phenotype-associated VAR_020666 commonName VAR_020666 VAR_020666 disease not phenotype-associated VAR_020667 commonName VAR_020667 VAR_020667 disease not phenotype-associated VAR_020668 commonName VAR_020668 VAR_020668 disease not phenotype-associated VAR_020678 commonName VAR_020678 VAR_020678 disease not phenotype-associated VAR_020679 commonName VAR_020679 VAR_020679 disease phenotype-associated VAR_020679 phenoCommon Breast cancer (BC) [MIM:114480] VAR_020679 phenoCommon Familial breast-ovarian cancer type 1 (BROVCA1) [MIM:604370] VAR_020680 commonName VAR_020680 VAR_020680 disease phenotype-associated VAR_020680 phenoCommon Breast cancer (BC) [MIM:114480] VAR_020680 phenoCommon Familial breast-ovarian cancer type 1 (BROVCA1) [MIM:604370] VAR_020681 commonName VAR_020681 VAR_020682 commonName VAR_020682 VAR_020682 disease not phenotype-associated VAR_020683 commonName VAR_020683 VAR_020683 disease phenotype-associated VAR_020683 phenoCommon Breast cancer (BC) [MIM:114480] VAR_020684 commonName VAR_020684 VAR_020685 commonName VAR_020685 VAR_020686 commonName VAR_020686 VAR_020687 commonName VAR_020687 VAR_020688 commonName VAR_020688 VAR_020688 disease not phenotype-associated VAR_020705 commonName VAR_020705 VAR_020706 commonName VAR_020706 VAR_020707 commonName VAR_020707 VAR_020708 commonName VAR_020708 VAR_020709 commonName VAR_020709 VAR_020710 commonName VAR_020710 VAR_020711 commonName VAR_020711 VAR_020711 disease not phenotype-associated VAR_020712 commonName VAR_020712 VAR_020713 commonName VAR_020713 VAR_020714 commonName VAR_020714 VAR_020715 commonName VAR_020715 VAR_020715 disease phenotype-associated VAR_020715 phenoCommon Breast cancer (BC) [MIM:114480] VAR_020716 commonName VAR_020716 VAR_020716 disease not phenotype-associated VAR_020717 commonName VAR_020717 VAR_020718 commonName VAR_020718 VAR_020719 commonName VAR_020719 VAR_020719 disease phenotype-associated VAR_020719 phenoCommon Breast cancer (BC) [MIM:114480] VAR_020720 commonName VAR_020720 VAR_020720 disease phenotype-associated VAR_020720 phenoCommon Breast cancer (BC) [MIM:114480] VAR_020721 commonName VAR_020721 VAR_020721 disease phenotype-associated VAR_020721 phenoCommon Breast cancer (BC) [MIM:114480] VAR_020722 commonName VAR_020722 VAR_020722 disease phenotype-associated VAR_020722 phenoCommon Breast cancer (BC) [MIM:114480] VAR_020723 commonName VAR_020723 VAR_020724 commonName VAR_020724 VAR_020725 commonName VAR_020725 VAR_020725 disease phenotype-associated VAR_020725 phenoCommon Breast cancer (BC) [MIM:114480] VAR_020726 commonName VAR_020726 VAR_020726 disease phenotype-associated VAR_020726 phenoCommon Breast cancer (BC) [MIM:114480] VAR_020727 commonName VAR_020727 VAR_020727 disease phenotype-associated VAR_020727 phenoCommon Breast cancer (BC) [MIM:114480] VAR_020728 commonName VAR_020728 VAR_020729 commonName VAR_020729 VAR_020729 disease phenotype-associated VAR_020729 phenoCommon Breast cancer (BC) [MIM:114480] VAR_020730 commonName VAR_020730 VAR_020731 commonName VAR_020731 VAR_020732 commonName VAR_020732 VAR_020733 commonName VAR_020733 VAR_020734 commonName VAR_020734 VAR_020734 disease not phenotype-associated VAR_020735 commonName VAR_020735 VAR_020736 commonName VAR_020736 VAR_020736 disease phenotype-associated VAR_020736 phenoCommon Breast cancer (BC) [MIM:114480] VAR_020737 commonName VAR_020737 VAR_020737 disease phenotype-associated VAR_020737 phenoCommon Breast cancer (BC) [MIM:114480] VAR_020738 commonName VAR_020738 VAR_020739 commonName VAR_020739 VAR_020740 commonName VAR_020740 VAR_020741 commonName VAR_020741 VAR_020742 commonName VAR_020742 VAR_020742 disease not phenotype-associated VAR_020743 commonName VAR_020743 VAR_020743 disease phenotype-associated VAR_020743 phenoCommon Breast cancer (BC) [MIM:114480] VAR_020744 commonName VAR_020744 VAR_020744 disease phenotype-associated VAR_020744 phenoCommon Breast cancer (BC) [MIM:114480] VAR_020745 commonName VAR_020745 VAR_020745 disease not phenotype-associated VAR_020746 comment A colorectal cancer VAR_020746 commonName VAR_020746 VAR_020747 comment Some colorectal cancers VAR_020747 commonName VAR_020747 VAR_020748 comment A gastric cancer VAR_020748 commonName VAR_020748 VAR_020749 comment A colorectal cancer VAR_020749 commonName VAR_020749 VAR_020750 comment A colorectal cancer VAR_020750 commonName VAR_020750 VAR_020751 comment A colorectal cancer VAR_020751 commonName VAR_020751 VAR_020752 comment A colorectal cancer VAR_020752 commonName VAR_020752 VAR_020753 comment A gastric cancer VAR_020753 commonName VAR_020753 VAR_020754 comment A colorectal cancer VAR_020754 commonName VAR_020754 VAR_020755 comment A colorectal cancer VAR_020755 commonName VAR_020755 VAR_020756 comment A colorectal cancer VAR_020756 commonName VAR_020756 VAR_020757 comment A colorectal cancer VAR_020757 commonName VAR_020757 VAR_020758 comment A colorectal cancer VAR_020758 commonName VAR_020758 VAR_020759 comment A colorectal cancer VAR_020759 commonName VAR_020759 VAR_020760 comment A lung cancer VAR_020760 commonName VAR_020760 VAR_020761 comment A colorectal cancer VAR_020761 commonName VAR_020761 VAR_020762 comment A colorectal cancer VAR_020762 commonName VAR_020762 VAR_020763 comment A colorectal cancer VAR_020763 commonName VAR_020763 VAR_020764 comment A colorectal cancer VAR_020764 commonName VAR_020764 VAR_020765 comment A colorectal cancer VAR_020765 commonName VAR_020765 VAR_020766 comment A colorectal cancer VAR_020766 commonName VAR_020766 VAR_020767 comment A colorectal cancer VAR_020767 commonName VAR_020767 VAR_020768 comment A lung cancer VAR_020768 commonName VAR_020768 VAR_020769 comment A colorectal cancer VAR_020769 commonName VAR_020769 VAR_020770 comment Some colorectal cancers VAR_020770 commonName VAR_020770 VAR_020772 commonName VAR_020772 VAR_020772 disease not phenotype-associated VAR_020773 commonName VAR_020773 VAR_020773 disease not phenotype-associated VAR_020774 commonName VAR_020774 VAR_020774 disease not phenotype-associated VAR_020775 commonName VAR_020775 VAR_020776 commonName VAR_020776 VAR_020776 disease not phenotype-associated VAR_020777 commonName VAR_020777 VAR_020777 disease not phenotype-associated VAR_020778 commonName VAR_020778 VAR_020778 disease not phenotype-associated VAR_020779 commonName VAR_020779 VAR_020779 disease not phenotype-associated VAR_020780 commonName VAR_020780 VAR_020780 disease not phenotype-associated VAR_020781 commonName VAR_020781 VAR_020781 disease phenotype-associated VAR_020781 phenoCommon Sitosterolemia (STSL) [MIM:210250] VAR_020782 commonName VAR_020782 VAR_020782 disease not phenotype-associated VAR_020783 commonName VAR_020783 VAR_020783 disease not phenotype-associated VAR_020784 commonName VAR_020784 VAR_020784 disease not phenotype-associated VAR_020785 commonName VAR_020785 VAR_020785 disease not phenotype-associated VAR_020787 commonName VAR_020787 VAR_020787 disease not phenotype-associated VAR_020788 commonName VAR_020788 VAR_020788 disease not phenotype-associated VAR_020789 commonName VAR_020789 VAR_020789 disease not phenotype-associated VAR_020790 commonName VAR_020790 VAR_020790 disease not phenotype-associated VAR_020791 commonName VAR_020791 VAR_020791 disease not phenotype-associated VAR_020792 commonName VAR_020792 VAR_020792 disease not phenotype-associated VAR_020797 commonName VAR_020797 VAR_020797 disease phenotype-associated VAR_020797 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_020798 commonName VAR_020798 VAR_020798 disease phenotype-associated VAR_020798 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_020799 commonName VAR_020799 VAR_020799 disease phenotype-associated VAR_020799 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_020800 commonName VAR_020800 VAR_020800 disease phenotype-associated VAR_020800 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_020801 commonName VAR_020801 VAR_020801 disease phenotype-associated VAR_020801 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_020802 commonName VAR_020802 VAR_020802 disease phenotype-associated VAR_020802 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_020803 commonName VAR_020803 VAR_020803 disease phenotype-associated VAR_020803 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_020804 commonName VAR_020804 VAR_020804 disease phenotype-associated VAR_020804 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_020805 commonName VAR_020805 VAR_020805 disease phenotype-associated VAR_020805 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_020806 commonName VAR_020806 VAR_020806 disease phenotype-associated VAR_020806 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_020807 commonName VAR_020807 VAR_020807 disease phenotype-associated VAR_020807 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_020808 commonName VAR_020808 VAR_020808 disease phenotype-associated VAR_020808 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_020809 commonName VAR_020809 VAR_020809 disease phenotype-associated VAR_020809 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_020810 commonName VAR_020810 VAR_020810 disease phenotype-associated VAR_020810 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_020811 commonName VAR_020811 VAR_020811 disease phenotype-associated VAR_020811 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_020812 commonName VAR_020812 VAR_020812 disease phenotype-associated VAR_020812 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_020813 commonName VAR_020813 VAR_020813 disease phenotype-associated VAR_020813 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_020814 commonName VAR_020814 VAR_020814 disease phenotype-associated VAR_020814 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_020815 commonName VAR_020815 VAR_020815 disease phenotype-associated VAR_020815 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_020816 commonName VAR_020816 VAR_020816 disease phenotype-associated VAR_020816 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_020817 commonName VAR_020817 VAR_020817 disease phenotype-associated VAR_020817 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_020819 commonName VAR_020819 VAR_020819 disease not phenotype-associated VAR_020820 commonName VAR_020820 VAR_020820 disease phenotype-associated VAR_020820 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_020821 commonName VAR_020821 VAR_020821 disease phenotype-associated VAR_020821 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_020822 commonName VAR_020822 VAR_020822 disease phenotype-associated VAR_020822 phenoCommon Hereditary fructose intolerance (HFI) [MIM:229600] VAR_020824 commonName VAR_020824 VAR_020824 disease phenotype-associated VAR_020824 phenoCommon Hereditary fructose intolerance (HFI) [MIM:229600] VAR_020825 commonName VAR_020825 VAR_020825 disease not phenotype-associated VAR_020826 commonName VAR_020826 VAR_020826 disease phenotype-associated VAR_020826 phenoCommon Hereditary fructose intolerance (HFI) [MIM:229600] VAR_020827 commonName VAR_020827 VAR_020827 disease phenotype-associated VAR_020827 phenoCommon Hereditary fructose intolerance (HFI) [MIM:229600] VAR_020828 commonName VAR_020828 VAR_020828 disease phenotype-associated VAR_020828 phenoCommon Hereditary fructose intolerance (HFI) [MIM:229600] VAR_020829 commonName VAR_020829 VAR_020829 disease phenotype-associated VAR_020829 phenoCommon Lathosterolosis (LATHST) [MIM:607330] VAR_020830 commonName VAR_020830 VAR_020830 disease phenotype-associated VAR_020830 phenoCommon Episodic ataxia type 1 (EA1) [MIM:160120] VAR_020831 commonName VAR_020831 VAR_020831 disease phenotype-associated VAR_020831 phenoCommon Episodic ataxia type 1 (EA1) [MIM:160120] VAR_020832 commonName VAR_020832 VAR_020832 disease phenotype-associated VAR_020832 phenoCommon Episodic ataxia type 1 (EA1) [MIM:160120] VAR_020833 commonName VAR_020833 VAR_020833 disease phenotype-associated VAR_020833 phenoCommon Episodic ataxia type 1 (EA1) [MIM:160120] VAR_020834 commonName VAR_020834 VAR_020834 disease phenotype-associated VAR_020834 phenoCommon Episodic ataxia type 1 (EA1) [MIM:160120] VAR_020835 commonName VAR_020835 VAR_020835 disease phenotype-associated VAR_020835 phenoCommon Methylmalonic aciduria type cblA (MMAA) [MIM:251100] VAR_020836 commonName VAR_020836 VAR_020836 disease phenotype-associated VAR_020836 phenoCommon Methylmalonic aciduria type cblA (MMAA) [MIM:251100] VAR_020837 commonName VAR_020837 VAR_020837 disease phenotype-associated VAR_020837 phenoCommon Methylmalonic aciduria type cblA (MMAA) [MIM:251100] VAR_020838 commonName VAR_020838 VAR_020838 disease phenotype-associated VAR_020838 phenoCommon Methylmalonic aciduria type cblA (MMAA) [MIM:251100] VAR_020839 commonName VAR_020839 VAR_020839 disease phenotype-associated VAR_020839 phenoCommon Enhanced S cone syndrome (ESCS) [MIM:268100] VAR_020840 commonName VAR_020840 VAR_020840 disease phenotype-associated VAR_020840 phenoCommon Enhanced S cone syndrome (ESCS) [MIM:268100] VAR_020841 commonName VAR_020841 VAR_020841 disease phenotype-associated VAR_020841 phenoCommon Enhanced S cone syndrome (ESCS) [MIM:268100] VAR_020842 commonName VAR_020842 VAR_020842 disease phenotype-associated VAR_020842 phenoCommon Enhanced S cone syndrome (ESCS) [MIM:268100] VAR_020843 commonName VAR_020843 VAR_020843 disease phenotype-associated VAR_020843 phenoCommon Enhanced S cone syndrome (ESCS) [MIM:268100] VAR_020844 commonName VAR_020844 VAR_020844 disease phenotype-associated VAR_020844 phenoCommon Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078] VAR_020845 commonName VAR_020845 VAR_020845 disease phenotype-associated VAR_020845 phenoCommon Basal cell nevus syndrome (BCNS) [MIM:109400] VAR_020847 commonName VAR_020847 VAR_020847 disease not phenotype-associated VAR_020854 commonName VAR_020854 VAR_020854 disease phenotype-associated VAR_020854 phenoCommon Glycogen storage disease type 9C (GSD9C) [MIM:613027] VAR_020855 commonName VAR_020855 VAR_020855 disease phenotype-associated VAR_020855 phenoCommon Glycogen storage disease type 9C (GSD9C) [MIM:613027] VAR_020856 commonName VAR_020856 VAR_020856 disease phenotype-associated VAR_020856 phenoCommon Glycogen storage disease type 9D (GSD9D) [MIM:300559] VAR_020857 commonName VAR_020857 VAR_020857 disease not phenotype-associated VAR_020858 commonName VAR_020858 VAR_020858 disease phenotype-associated VAR_020858 phenoCommon Leber congenital amaurosis type 13 (LCA13) [MIM:612712] VAR_020859 commonName VAR_020859 VAR_020859 disease phenotype-associated VAR_020859 phenoCommon Leber congenital amaurosis type 13 (LCA13) [MIM:612712] VAR_020860 commonName VAR_020860 VAR_020860 disease phenotype-associated VAR_020860 phenoCommon Leber congenital amaurosis type 13 (LCA13) [MIM:612712] VAR_020861 commonName VAR_020861 VAR_020861 disease phenotype-associated VAR_020861 phenoCommon Leber congenital amaurosis type 13 (LCA13) [MIM:612712] VAR_020862 commonName VAR_020862 VAR_020862 disease phenotype-associated VAR_020862 phenoCommon Leber congenital amaurosis type 13 (LCA13) [MIM:612712] VAR_020863 commonName VAR_020863 VAR_020863 disease phenotype-associated VAR_020863 phenoCommon Leber congenital amaurosis type 13 (LCA13) [MIM:612712] VAR_020864 commonName VAR_020864 VAR_020864 disease phenotype-associated VAR_020864 phenoCommon Leber congenital amaurosis type 13 (LCA13) [MIM:612712] VAR_020865 commonName VAR_020865 VAR_020865 disease phenotype-associated VAR_020865 phenoCommon Leber congenital amaurosis type 13 (LCA13) [MIM:612712] VAR_020866 comment Neck cancer VAR_020866 commonName VAR_020866 VAR_020867 comment Lung carcinoma VAR_020867 commonName VAR_020867 VAR_020868 comment Cervical cancer VAR_020868 commonName VAR_020868 VAR_020869 commonName VAR_020869 VAR_020869 disease phenotype-associated VAR_020869 phenoCommon Split-hand/foot malformation type 4 (SHFM4) [MIM:605289] VAR_020870 commonName VAR_020870 VAR_020870 disease phenotype-associated VAR_020870 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] VAR_020871 commonName VAR_020871 VAR_020871 disease phenotype-associated VAR_020871 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] VAR_020872 comment Colon cancer VAR_020872 commonName VAR_020872 VAR_020873 commonName VAR_020873 VAR_020873 disease phenotype-associated VAR_020873 phenoCommon Ectodermal dysplasia Rapp-Hodgkin type (EDRH) [MIM:129400] VAR_020873 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] VAR_020874 commonName VAR_020874 VAR_020874 disease phenotype-associated VAR_020874 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] VAR_020875 commonName VAR_020875 VAR_020875 disease phenotype-associated VAR_020875 phenoCommon Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) [MIM:103285] VAR_020876 commonName VAR_020876 VAR_020876 disease phenotype-associated VAR_020876 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] VAR_020877 commonName VAR_020877 VAR_020877 disease phenotype-associated VAR_020877 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] VAR_020878 commonName VAR_020878 VAR_020878 disease phenotype-associated VAR_020878 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] VAR_020879 commonName VAR_020879 VAR_020879 disease phenotype-associated VAR_020879 phenoCommon Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) [MIM:106260] VAR_020880 comment Ovarian cancer VAR_020880 commonName VAR_020880 VAR_020881 commonName VAR_020881 VAR_020881 disease phenotype-associated VAR_020881 phenoCommon Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) [MIM:106260] VAR_020884 commonName VAR_020884 VAR_020884 disease not phenotype-associated VAR_020885 commonName VAR_020885 VAR_020885 disease not phenotype-associated VAR_020887 commonName VAR_020887 VAR_020887 disease not phenotype-associated VAR_020888 commonName VAR_020888 VAR_020888 disease not phenotype-associated VAR_020889 commonName VAR_020889 VAR_020889 disease not phenotype-associated VAR_020890 commonName VAR_020890 VAR_020890 disease not phenotype-associated VAR_020891 commonName VAR_020891 VAR_020891 disease not phenotype-associated VAR_020892 commonName VAR_020892 VAR_020892 disease not phenotype-associated VAR_020893 commonName VAR_020893 VAR_020893 disease not phenotype-associated VAR_020894 commonName VAR_020894 VAR_020894 disease not phenotype-associated VAR_020896 commonName VAR_020896 VAR_020896 disease phenotype-associated VAR_020896 phenoCommon Breast cancer (BC) [MIM:114480] VAR_020897 commonName VAR_020897 VAR_020897 disease not phenotype-associated VAR_020898 commonName VAR_020898 VAR_020898 disease not phenotype-associated VAR_020899 commonName VAR_020899 VAR_020899 disease not phenotype-associated VAR_020900 commonName VAR_020900 VAR_020900 disease phenotype-associated VAR_020900 phenoCommon Breast cancer (BC) [MIM:114480] VAR_020901 commonName VAR_020901 VAR_020901 disease not phenotype-associated VAR_020902 commonName VAR_020902 VAR_020902 disease not phenotype-associated VAR_020903 commonName VAR_020903 VAR_020903 disease not phenotype-associated VAR_020904 commonName VAR_020904 VAR_020904 disease not phenotype-associated VAR_020905 commonName VAR_020905 VAR_020905 disease not phenotype-associated VAR_020906 commonName VAR_020906 VAR_020906 disease not phenotype-associated VAR_020907 commonName VAR_020907 VAR_020910 commonName VAR_020910 VAR_020910 disease not phenotype-associated VAR_020911 commonName VAR_020911 VAR_020911 disease not phenotype-associated VAR_020912 commonName VAR_020912 VAR_020912 disease not phenotype-associated VAR_020915 commonName VAR_020915 VAR_020915 disease not phenotype-associated VAR_020916 commonName VAR_020916 VAR_020916 disease not phenotype-associated VAR_020917 commonName VAR_020917 VAR_020917 disease not phenotype-associated VAR_020918 commonName VAR_020918 VAR_020918 disease phenotype-associated VAR_020918 phenoCommon Ichthyosis lamellar type 1 (LI1) [MIM:242300] VAR_020919 commonName VAR_020919 VAR_020919 disease phenotype-associated VAR_020919 phenoCommon Ichthyosis lamellar type 1 (LI1) [MIM:242300] VAR_020920 commonName VAR_020920 VAR_020920 disease phenotype-associated VAR_020920 phenoCommon Ichthyosis lamellar type 1 (LI1) [MIM:242300] VAR_020921 commonName VAR_020921 VAR_020921 disease phenotype-associated VAR_020921 phenoCommon Microphthalmia syndromic type 2 (MCOPS2) [MIM:300166] VAR_020924 commonName VAR_020924 VAR_020924 disease not phenotype-associated VAR_020925 commonName VAR_020925 VAR_020925 disease not phenotype-associated VAR_020926 commonName VAR_020926 VAR_020926 disease not phenotype-associated VAR_020927 commonName VAR_020927 VAR_020927 disease not phenotype-associated VAR_020928 commonName VAR_020928 VAR_020928 disease not phenotype-associated VAR_020929 commonName VAR_020929 VAR_020929 disease not phenotype-associated VAR_020930 commonName VAR_020930 VAR_020930 disease not phenotype-associated VAR_020932 commonName VAR_020932 VAR_020932 disease not phenotype-associated VAR_020936 commonName VAR_020936 VAR_020936 disease not phenotype-associated VAR_020937 commonName VAR_020937 VAR_020937 disease not phenotype-associated VAR_020938 commonName VAR_020938 VAR_020938 disease not phenotype-associated VAR_020939 commonName VAR_020939 VAR_020939 disease not phenotype-associated VAR_020940 commonName VAR_020940 VAR_020940 disease not phenotype-associated VAR_020941 commonName VAR_020941 VAR_020941 disease not phenotype-associated VAR_020942 commonName VAR_020942 VAR_020942 disease not phenotype-associated VAR_020943 commonName VAR_020943 VAR_020943 disease not phenotype-associated VAR_020944 commonName VAR_020944 VAR_020944 disease not phenotype-associated VAR_020945 commonName VAR_020945 VAR_020945 disease not phenotype-associated VAR_020946 commonName VAR_020946 VAR_020946 disease not phenotype-associated VAR_020947 commonName VAR_020947 VAR_020947 disease not phenotype-associated VAR_020948 commonName VAR_020948 VAR_020948 disease not phenotype-associated VAR_020949 commonName VAR_020949 VAR_020949 disease not phenotype-associated VAR_020950 commonName VAR_020950 VAR_020950 disease not phenotype-associated VAR_020951 commonName VAR_020951 VAR_020951 disease not phenotype-associated VAR_020952 commonName VAR_020952 VAR_020952 disease not phenotype-associated VAR_020953 commonName VAR_020953 VAR_020953 disease not phenotype-associated VAR_020954 commonName VAR_020954 VAR_020954 disease not phenotype-associated VAR_020955 commonName VAR_020955 VAR_020955 disease not phenotype-associated VAR_020957 commonName VAR_020957 VAR_020957 disease not phenotype-associated VAR_020958 commonName VAR_020958 VAR_020958 disease not phenotype-associated VAR_020959 commonName VAR_020959 VAR_020959 disease not phenotype-associated VAR_020960 commonName VAR_020960 VAR_020960 disease not phenotype-associated VAR_020961 commonName VAR_020961 VAR_020961 disease not phenotype-associated VAR_020962 commonName VAR_020962 VAR_020962 disease not phenotype-associated VAR_020966 commonName VAR_020966 VAR_020966 disease not phenotype-associated VAR_020967 commonName VAR_020967 VAR_020967 disease not phenotype-associated VAR_020968 commonName VAR_020968 VAR_020968 disease not phenotype-associated VAR_020969 commonName VAR_020969 VAR_020969 disease not phenotype-associated VAR_020970 commonName VAR_020970 VAR_020970 disease not phenotype-associated VAR_020971 commonName VAR_020971 VAR_020971 disease not phenotype-associated VAR_020972 commonName VAR_020972 VAR_020972 disease not phenotype-associated VAR_020973 commonName VAR_020973 VAR_020974 commonName VAR_020974 VAR_020974 disease phenotype-associated VAR_020974 phenoCommon Acute hepatic porphyria (AHEPP) [MIM:612740] VAR_020975 commonName VAR_020975 VAR_020975 disease phenotype-associated VAR_020975 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] VAR_020976 commonName VAR_020976 VAR_020977 commonName VAR_020977 VAR_020977 disease phenotype-associated VAR_020977 phenoCommon Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014] VAR_020978 commonName VAR_020978 VAR_020978 disease phenotype-associated VAR_020978 phenoCommon Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014] VAR_020979 commonName VAR_020979 VAR_020979 disease phenotype-associated VAR_020979 phenoCommon Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014] VAR_020980 commonName VAR_020980 VAR_020980 disease phenotype-associated VAR_020980 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] VAR_020981 commonName VAR_020981 VAR_020981 disease phenotype-associated VAR_020981 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] VAR_020982 commonName VAR_020982 VAR_020982 disease phenotype-associated VAR_020982 phenoCommon Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014] VAR_020983 commonName VAR_020983 VAR_020983 disease phenotype-associated VAR_020983 phenoCommon Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016] VAR_020984 commonName VAR_020984 VAR_020984 disease phenotype-associated VAR_020984 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] VAR_020985 commonName VAR_020985 VAR_020985 disease phenotype-associated VAR_020985 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] VAR_020985 phenoCommon Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016] VAR_020986 commonName VAR_020986 VAR_020986 disease phenotype-associated VAR_020986 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] VAR_020987 commonName VAR_020987 VAR_020987 disease phenotype-associated VAR_020987 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] VAR_020988 commonName VAR_020988 VAR_020988 disease phenotype-associated VAR_020988 phenoCommon Osteopetrosis autosomal recessive type 1 (OPTB1) [MIM:259700] VAR_020990 commonName VAR_020990 VAR_020990 disease phenotype-associated VAR_020990 phenoCommon Osteopetrosis autosomal recessive type 1 (OPTB1) [MIM:259700] VAR_020992 commonName VAR_020992 VAR_020992 disease not phenotype-associated VAR_020993 commonName VAR_020993 VAR_020993 disease phenotype-associated VAR_020993 phenoCommon Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722] VAR_020995 commonName VAR_020995 VAR_020995 disease phenotype-associated VAR_020995 phenoCommon Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722] VAR_020996 commonName VAR_020996 VAR_020996 disease phenotype-associated VAR_020996 phenoCommon Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722] VAR_020997 commonName VAR_020997 VAR_020997 disease phenotype-associated VAR_020997 phenoCommon Osteopetrosis autosomal dominant type 2 (OPTA2) [MIM:166600] VAR_020998 commonName VAR_020998 VAR_020998 disease phenotype-associated VAR_020998 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] VAR_020999 commonName VAR_020999 VAR_020999 disease phenotype-associated VAR_020999 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] VAR_021000 commonName VAR_021000 VAR_021000 disease phenotype-associated VAR_021000 phenoCommon Osteopetrosis autosomal dominant type 2 (OPTA2) [MIM:166600] VAR_021001 commonName VAR_021001 VAR_021001 disease phenotype-associated VAR_021001 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] VAR_021002 commonName VAR_021002 VAR_021002 disease not phenotype-associated VAR_021003 commonName VAR_021003 VAR_021003 disease phenotype-associated VAR_021003 phenoCommon Osteopetrosis autosomal dominant type 2 (OPTA2) [MIM:166600] VAR_021004 commonName VAR_021004 VAR_021004 disease phenotype-associated VAR_021004 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] VAR_021005 commonName VAR_021005 VAR_021005 disease phenotype-associated VAR_021005 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] VAR_021006 commonName VAR_021006 VAR_021006 disease phenotype-associated VAR_021006 phenoCommon Osteopetrosis autosomal dominant type 2 (OPTA2) [MIM:166600] VAR_021007 commonName VAR_021007 VAR_021007 disease phenotype-associated VAR_021007 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] VAR_021008 commonName VAR_021008 VAR_021008 disease phenotype-associated VAR_021008 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] VAR_021009 commonName VAR_021009 VAR_021009 disease phenotype-associated VAR_021009 phenoCommon Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730] VAR_021010 commonName VAR_021010 VAR_021010 disease phenotype-associated VAR_021010 phenoCommon Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730] VAR_021011 commonName VAR_021011 VAR_021011 disease not phenotype-associated VAR_021012 commonName VAR_021012 VAR_021012 disease phenotype-associated VAR_021012 phenoCommon Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300] VAR_021013 commonName VAR_021013 VAR_021013 disease phenotype-associated VAR_021013 phenoCommon Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300] VAR_021014 commonName VAR_021014 VAR_021014 disease not phenotype-associated VAR_021016 commonName VAR_021016 VAR_021016 disease phenotype-associated VAR_021016 phenoCommon Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801] VAR_021016 phenoCommon Myopathy distal Tateyama type (MPDT) [MIM:614321] VAR_021017 commonName VAR_021017 VAR_021017 disease phenotype-associated VAR_021017 phenoCommon Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801] VAR_021018 commonName VAR_021018 VAR_021018 disease phenotype-associated VAR_021018 phenoCommon Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801] VAR_021019 commonName VAR_021019 VAR_021020 commonName VAR_021020 VAR_021020 disease phenotype-associated VAR_021020 phenoCommon Familial CD8 deficiency (CD8 deficiency) [MIM:608957] VAR_021021 commonName VAR_021021 VAR_021021 disease not phenotype-associated VAR_021022 commonName VAR_021022 VAR_021022 disease not phenotype-associated VAR_021023 commonName VAR_021023 VAR_021023 disease not phenotype-associated VAR_021024 commonName VAR_021024 VAR_021024 disease not phenotype-associated VAR_021027 commonName VAR_021027 VAR_021027 disease not phenotype-associated VAR_021029 commonName VAR_021029 VAR_021029 disease not phenotype-associated VAR_021030 commonName VAR_021030 VAR_021030 disease not phenotype-associated VAR_021031 commonName VAR_021031 VAR_021031 disease not phenotype-associated VAR_021032 commonName VAR_021032 VAR_021032 disease not phenotype-associated VAR_021033 commonName VAR_021033 VAR_021033 disease not phenotype-associated VAR_021034 commonName VAR_021034 VAR_021034 disease not phenotype-associated VAR_021035 commonName VAR_021035 VAR_021035 disease not phenotype-associated VAR_021036 commonName VAR_021036 VAR_021036 disease not phenotype-associated VAR_021037 commonName VAR_021037 VAR_021037 disease not phenotype-associated VAR_021038 commonName VAR_021038 VAR_021038 disease not phenotype-associated VAR_021039 commonName VAR_021039 VAR_021039 disease not phenotype-associated VAR_021040 commonName VAR_021040 VAR_021040 disease not phenotype-associated VAR_021041 commonName VAR_021041 VAR_021041 disease not phenotype-associated VAR_021042 commonName VAR_021042 VAR_021042 disease not phenotype-associated VAR_021043 commonName VAR_021043 VAR_021043 disease not phenotype-associated VAR_021044 commonName VAR_021044 VAR_021044 disease not phenotype-associated VAR_021045 commonName VAR_021045 VAR_021045 disease not phenotype-associated VAR_021046 commonName VAR_021046 VAR_021046 disease phenotype-associated VAR_021046 phenoCommon Retinitis pigmentosa type 38 (RP38) [MIM:613862] VAR_021047 commonName VAR_021047 VAR_021047 disease phenotype-associated VAR_021047 phenoCommon Retinitis pigmentosa type 38 (RP38) [MIM:613862] VAR_021050 commonName VAR_021050 VAR_021051 commonName VAR_021051 VAR_021051 disease not phenotype-associated VAR_021052 commonName VAR_021052 VAR_021052 disease not phenotype-associated VAR_021053 commonName VAR_021053 VAR_021053 disease phenotype-associated VAR_021053 phenoCommon Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] VAR_021054 commonName VAR_021054 VAR_021054 disease not phenotype-associated VAR_021055 commonName VAR_021055 VAR_021055 disease phenotype-associated VAR_021055 phenoCommon Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] VAR_021056 commonName VAR_021056 VAR_021056 disease phenotype-associated VAR_021056 phenoCommon Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] VAR_021059 commonName VAR_021059 VAR_021059 disease phenotype-associated VAR_021059 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800] VAR_021060 commonName VAR_021060 VAR_021060 disease phenotype-associated VAR_021060 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800] VAR_021061 commonName VAR_021061 VAR_021061 disease not phenotype-associated VAR_021062 commonName VAR_021062 VAR_021062 disease not phenotype-associated VAR_021063 commonName VAR_021063 VAR_021063 disease not phenotype-associated VAR_021064 commonName VAR_021064 VAR_021064 disease not phenotype-associated VAR_021065 commonName VAR_021065 VAR_021065 disease not phenotype-associated VAR_021066 commonName VAR_021066 VAR_021066 disease not phenotype-associated VAR_021067 commonName VAR_021067 VAR_021067 disease not phenotype-associated VAR_021068 commonName VAR_021068 VAR_021068 disease not phenotype-associated VAR_021069 commonName VAR_021069 VAR_021069 disease not phenotype-associated VAR_021070 commonName VAR_021070 VAR_021070 disease not phenotype-associated VAR_021071 commonName VAR_021071 VAR_021071 disease not phenotype-associated VAR_021072 commonName VAR_021072 VAR_021072 disease not phenotype-associated VAR_021073 commonName VAR_021073 VAR_021073 disease not phenotype-associated VAR_021074 commonName VAR_021074 VAR_021074 disease not phenotype-associated VAR_021075 commonName VAR_021075 VAR_021075 disease not phenotype-associated VAR_021076 commonName VAR_021076 VAR_021076 disease not phenotype-associated VAR_021077 commonName VAR_021077 VAR_021077 disease not phenotype-associated VAR_021078 commonName VAR_021078 VAR_021078 disease not phenotype-associated VAR_021081 commonName VAR_021081 VAR_021081 disease not phenotype-associated VAR_021082 commonName VAR_021082 VAR_021082 disease not phenotype-associated VAR_021083 commonName VAR_021083 VAR_021083 disease not phenotype-associated VAR_021084 commonName VAR_021084 VAR_021084 disease not phenotype-associated VAR_021085 commonName VAR_021085 VAR_021085 disease not phenotype-associated VAR_021086 commonName VAR_021086 VAR_021086 disease not phenotype-associated VAR_021089 commonName VAR_021089 VAR_021089 disease not phenotype-associated VAR_021090 commonName VAR_021090 VAR_021090 disease not phenotype-associated VAR_021091 commonName VAR_021091 VAR_021091 disease not phenotype-associated VAR_021092 commonName VAR_021092 VAR_021092 disease not phenotype-associated VAR_021093 commonName VAR_021093 VAR_021093 disease not phenotype-associated VAR_021094 commonName VAR_021094 VAR_021094 disease not phenotype-associated VAR_021095 commonName VAR_021095 VAR_021095 disease not phenotype-associated VAR_021096 commonName VAR_021096 VAR_021096 disease not phenotype-associated VAR_021097 commonName VAR_021097 VAR_021097 disease not phenotype-associated VAR_021098 commonName VAR_021098 VAR_021098 disease not phenotype-associated VAR_021099 commonName VAR_021099 VAR_021099 disease not phenotype-associated VAR_021101 commonName VAR_021101 VAR_021101 disease not phenotype-associated VAR_021102 commonName VAR_021102 VAR_021102 disease not phenotype-associated VAR_021103 commonName VAR_021103 VAR_021103 disease not phenotype-associated VAR_021104 commonName VAR_021104 VAR_021104 disease not phenotype-associated VAR_021105 commonName VAR_021105 VAR_021105 disease not phenotype-associated VAR_021106 commonName VAR_021106 VAR_021106 disease not phenotype-associated VAR_021109 commonName VAR_021109 VAR_021109 disease not phenotype-associated VAR_021110 commonName VAR_021110 VAR_021110 disease phenotype-associated VAR_021110 phenoCommon Hemolytic anemia (HAGGSD) [MIM:230450] VAR_021111 commonName VAR_021111 VAR_021111 disease not phenotype-associated VAR_021112 commonName VAR_021112 VAR_021112 disease not phenotype-associated VAR_021113 commonName VAR_021113 VAR_021113 disease not phenotype-associated VAR_021114 commonName VAR_021114 VAR_021114 disease not phenotype-associated VAR_021115 commonName VAR_021115 VAR_021115 disease not phenotype-associated VAR_021123 commonName VAR_021123 VAR_021123 disease not phenotype-associated VAR_021124 commonName VAR_021124 VAR_021124 disease not phenotype-associated VAR_021125 commonName VAR_021125 VAR_021125 disease phenotype-associated VAR_021125 phenoCommon Trifunctional protein deficiency (TFP deficiency) [MIM:609015] VAR_021126 commonName VAR_021126 VAR_021126 disease phenotype-associated VAR_021126 phenoCommon Trifunctional protein deficiency (TFP deficiency) [MIM:609015] VAR_021127 commonName VAR_021127 VAR_021127 disease phenotype-associated VAR_021127 phenoCommon Long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD deficiency) [MIM:609016] VAR_021128 commonName VAR_021128 VAR_021128 disease phenotype-associated VAR_021128 phenoCommon Trifunctional protein deficiency (TFP deficiency) [MIM:609015] VAR_021129 commonName VAR_021129 VAR_021129 disease phenotype-associated VAR_021129 phenoCommon Trifunctional protein deficiency (TFP deficiency) [MIM:609015] VAR_021130 commonName VAR_021130 VAR_021130 disease phenotype-associated VAR_021130 phenoCommon Trifunctional protein deficiency (TFP deficiency) [MIM:609015] VAR_021131 commonName VAR_021131 VAR_021131 disease phenotype-associated VAR_021131 phenoCommon Trifunctional protein deficiency (TFP deficiency) [MIM:609015] VAR_021132 commonName VAR_021132 VAR_021132 disease phenotype-associated VAR_021132 phenoCommon Trifunctional protein deficiency (TFP deficiency) [MIM:609015] VAR_021133 commonName VAR_021133 VAR_021133 disease phenotype-associated VAR_021133 phenoCommon Trifunctional protein deficiency (TFP deficiency) [MIM:609015] VAR_021135 commonName VAR_021135 VAR_021135 disease phenotype-associated VAR_021135 phenoCommon Trifunctional protein deficiency (TFP deficiency) [MIM:609015] VAR_021136 commonName VAR_021136 VAR_021136 disease phenotype-associated VAR_021136 phenoCommon Trifunctional protein deficiency (TFP deficiency) [MIM:609015] VAR_021137 commonName VAR_021137 VAR_021137 disease phenotype-associated VAR_021137 phenoCommon Trifunctional protein deficiency (TFP deficiency) [MIM:609015] VAR_021138 commonName VAR_021138 VAR_021138 disease phenotype-associated VAR_021138 phenoCommon Trifunctional protein deficiency (TFP deficiency) [MIM:609015] VAR_021139 commonName VAR_021139 VAR_021139 disease not phenotype-associated VAR_021140 commonName VAR_021140 VAR_021140 disease not phenotype-associated VAR_021141 commonName VAR_021141 VAR_021141 disease not phenotype-associated VAR_021142 commonName VAR_021142 VAR_021142 disease phenotype-associated VAR_021142 phenoCommon Cataract Coppock-like (CCL) [MIM:604307] VAR_021143 commonName VAR_021143 VAR_021143 disease not phenotype-associated VAR_021144 commonName VAR_021144 VAR_021144 disease phenotype-associated VAR_021144 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219] VAR_021145 commonName VAR_021145 VAR_021145 disease phenotype-associated VAR_021145 phenoCommon Cataract congenital cerulean type 3 (CCA3) [MIM:608983] VAR_021146 commonName VAR_021146 VAR_021146 disease not phenotype-associated VAR_021147 commonName VAR_021147 VAR_021147 disease not phenotype-associated VAR_021148 commonName VAR_021148 VAR_021149 commonName VAR_021149 VAR_021149 disease phenotype-associated VAR_021149 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9) [MIM:609040] VAR_021150 commonName VAR_021150 VAR_021150 disease phenotype-associated VAR_021150 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9) [MIM:609040] VAR_021151 commonName VAR_021151 VAR_021151 disease phenotype-associated VAR_021151 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9) [MIM:609040] VAR_021152 commonName VAR_021152 VAR_021152 disease phenotype-associated VAR_021152 phenoCommon Cutaneous malignant melanoma type 3 (CMM3) [MIM:609048] VAR_021153 commonName VAR_021153 VAR_021153 disease not phenotype-associated VAR_021154 commonName VAR_021154 VAR_021154 disease phenotype-associated VAR_021154 phenoCommon Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) [MIM:613571] VAR_021155 commonName VAR_021155 VAR_021155 disease phenotype-associated VAR_021155 phenoCommon Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (ABS1) [MIM:201750] VAR_021155 phenoCommon Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) [MIM:613571] VAR_021162 commonName VAR_021162 VAR_021162 disease not phenotype-associated VAR_021163 commonName VAR_021163 VAR_021163 disease not phenotype-associated VAR_021164 commonName VAR_021164 VAR_021164 disease not phenotype-associated VAR_021165 commonName VAR_021165 VAR_021165 disease not phenotype-associated VAR_021166 commonName VAR_021166 VAR_021166 disease not phenotype-associated VAR_021167 commonName VAR_021167 VAR_021167 disease not phenotype-associated VAR_021169 commonName VAR_021169 VAR_021169 disease not phenotype-associated VAR_021170 commonName VAR_021170 VAR_021170 disease not phenotype-associated VAR_021173 commonName VAR_021173 VAR_021173 disease not phenotype-associated VAR_021174 commonName VAR_021174 VAR_021174 disease not phenotype-associated VAR_021175 commonName VAR_021175 VAR_021175 disease not phenotype-associated VAR_021177 commonName VAR_021177 VAR_021177 disease not phenotype-associated VAR_021194 comment Leukemia VAR_021194 commonName VAR_021194 VAR_021195 commonName VAR_021195 VAR_021195 disease phenotype-associated VAR_021195 phenoCommon Ovarian dysgenesis type 2 (ODG2) [MIM:300510] VAR_021196 commonName VAR_021196 VAR_021196 disease phenotype-associated VAR_021196 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] VAR_021197 commonName VAR_021197 VAR_021197 disease phenotype-associated VAR_021197 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] VAR_021198 commonName VAR_021198 VAR_021198 disease phenotype-associated VAR_021198 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] VAR_021199 commonName VAR_021199 VAR_021199 disease phenotype-associated VAR_021199 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] VAR_021200 commonName VAR_021200 VAR_021200 disease phenotype-associated VAR_021200 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] VAR_021201 commonName VAR_021201 VAR_021201 disease not phenotype-associated VAR_021202 commonName VAR_021202 VAR_021202 disease phenotype-associated VAR_021202 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] VAR_021203 commonName VAR_021203 VAR_021203 disease phenotype-associated VAR_021203 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] VAR_021204 commonName VAR_021204 VAR_021204 disease phenotype-associated VAR_021204 phenoCommon Premature ovarian failure type 3 (POF3) [MIM:608996] VAR_021206 commonName VAR_021206 VAR_021206 disease phenotype-associated VAR_021206 phenoCommon Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930] VAR_021207 commonName VAR_021207 VAR_021207 disease phenotype-associated VAR_021207 phenoCommon Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462] VAR_021208 commonName VAR_021208 VAR_021208 disease phenotype-associated VAR_021208 phenoCommon Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930] VAR_021209 commonName VAR_021209 VAR_021209 disease phenotype-associated VAR_021209 phenoCommon Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930] VAR_021210 commonName VAR_021210 VAR_021210 disease phenotype-associated VAR_021210 phenoCommon Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930] VAR_021211 commonName VAR_021211 VAR_021211 disease phenotype-associated VAR_021211 phenoCommon Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930] VAR_021212 commonName VAR_021212 VAR_021212 disease phenotype-associated VAR_021212 phenoCommon Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462] VAR_021213 commonName VAR_021213 VAR_021213 disease phenotype-associated VAR_021213 phenoCommon Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930] VAR_021214 commonName VAR_021214 VAR_021214 disease phenotype-associated VAR_021214 phenoCommon Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930] VAR_021215 commonName VAR_021215 VAR_021215 disease phenotype-associated VAR_021215 phenoCommon Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930] VAR_021216 commonName VAR_021216 VAR_021216 disease phenotype-associated VAR_021216 phenoCommon Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931] VAR_021217 commonName VAR_021217 VAR_021217 disease phenotype-associated VAR_021217 phenoCommon Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931] VAR_021218 commonName VAR_021218 VAR_021218 disease phenotype-associated VAR_021218 phenoCommon Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] VAR_021219 commonName VAR_021219 VAR_021219 disease phenotype-associated VAR_021219 phenoCommon Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] VAR_021222 commonName VAR_021222 VAR_021222 disease phenotype-associated VAR_021222 phenoCommon Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813] VAR_021223 commonName VAR_021223 VAR_021223 disease phenotype-associated VAR_021223 phenoCommon Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813] VAR_021227 commonName VAR_021227 VAR_021227 disease phenotype-associated VAR_021227 phenoCommon Xeroderma pigmentosum variant type (XPV) [MIM:278750] VAR_021228 commonName VAR_021228 VAR_021228 disease phenotype-associated VAR_021228 phenoCommon Xeroderma pigmentosum variant type (XPV) [MIM:278750] VAR_021229 commonName VAR_021229 VAR_021229 disease not phenotype-associated VAR_021230 commonName VAR_021230 VAR_021230 disease phenotype-associated VAR_021230 phenoCommon Xeroderma pigmentosum variant type (XPV) [MIM:278750] VAR_021231 commonName VAR_021231 VAR_021231 disease not phenotype-associated VAR_021232 commonName VAR_021232 VAR_021232 disease phenotype-associated VAR_021232 phenoCommon Xeroderma pigmentosum variant type (XPV) [MIM:278750] VAR_021233 commonName VAR_021233 VAR_021233 disease not phenotype-associated VAR_021234 commonName VAR_021234 VAR_021234 disease phenotype-associated VAR_021234 phenoCommon Xeroderma pigmentosum variant type (XPV) [MIM:278750] VAR_021235 commonName VAR_021235 VAR_021235 disease not phenotype-associated VAR_021236 commonName VAR_021236 VAR_021236 disease phenotype-associated VAR_021236 phenoCommon Xeroderma pigmentosum variant type (XPV) [MIM:278750] VAR_021237 commonName VAR_021237 VAR_021237 disease not phenotype-associated VAR_021239 commonName VAR_021239 VAR_021239 disease not phenotype-associated VAR_021240 commonName VAR_021240 VAR_021240 disease not phenotype-associated VAR_021241 commonName VAR_021241 VAR_021241 disease not phenotype-associated VAR_021242 commonName VAR_021242 VAR_021242 disease not phenotype-associated VAR_021243 commonName VAR_021243 VAR_021243 disease not phenotype-associated VAR_021244 commonName VAR_021244 VAR_021244 disease not phenotype-associated VAR_021246 commonName VAR_021246 VAR_021246 disease not phenotype-associated VAR_021247 commonName VAR_021247 VAR_021247 disease not phenotype-associated VAR_021249 commonName VAR_021249 VAR_021249 disease not phenotype-associated VAR_021250 commonName VAR_021250 VAR_021250 disease not phenotype-associated VAR_021251 commonName VAR_021251 VAR_021251 disease not phenotype-associated VAR_021252 commonName VAR_021252 VAR_021252 disease not phenotype-associated VAR_021255 commonName VAR_021255 VAR_021255 disease not phenotype-associated VAR_021256 commonName VAR_021256 VAR_021256 disease not phenotype-associated VAR_021258 commonName VAR_021258 VAR_021258 disease not phenotype-associated VAR_021260 commonName VAR_021260 VAR_021260 disease not phenotype-associated VAR_021261 commonName VAR_021261 VAR_021261 disease not phenotype-associated VAR_021262 commonName VAR_021262 VAR_021262 disease not phenotype-associated VAR_021263 commonName VAR_021263 VAR_021263 disease phenotype-associated VAR_021263 phenoCommon Head and neck squamous cell carcinomas (HNSCC) [MIM:275355] VAR_021264 commonName VAR_021264 VAR_021264 disease not phenotype-associated VAR_021265 commonName VAR_021265 VAR_021265 disease not phenotype-associated VAR_021266 commonName VAR_021266 VAR_021266 disease not phenotype-associated VAR_021267 commonName VAR_021267 VAR_021267 disease not phenotype-associated VAR_021268 commonName VAR_021268 VAR_021268 disease not phenotype-associated VAR_021269 commonName VAR_021269 VAR_021269 disease not phenotype-associated VAR_021270 commonName VAR_021270 VAR_021270 disease not phenotype-associated VAR_021271 commonName VAR_021271 VAR_021271 disease not phenotype-associated VAR_021272 commonName VAR_021272 VAR_021272 disease not phenotype-associated VAR_021273 commonName VAR_021273 VAR_021273 disease not phenotype-associated VAR_021274 commonName VAR_021274 VAR_021274 disease not phenotype-associated VAR_021275 commonName VAR_021275 VAR_021275 disease not phenotype-associated VAR_021276 commonName VAR_021276 VAR_021276 disease not phenotype-associated VAR_021277 commonName VAR_021277 VAR_021277 disease not phenotype-associated VAR_021278 commonName VAR_021278 VAR_021278 disease not phenotype-associated VAR_021279 commonName VAR_021279 VAR_021279 disease not phenotype-associated VAR_021281 commonName VAR_021281 VAR_021281 disease not phenotype-associated VAR_021282 commonName VAR_021282 VAR_021282 disease not phenotype-associated VAR_021283 commonName VAR_021283 VAR_021283 disease not phenotype-associated VAR_021284 commonName VAR_021284 VAR_021284 disease not phenotype-associated VAR_021285 commonName VAR_021285 VAR_021285 disease not phenotype-associated VAR_021286 commonName VAR_021286 VAR_021286 disease not phenotype-associated VAR_021287 commonName VAR_021287 VAR_021287 disease not phenotype-associated VAR_021288 commonName VAR_021288 VAR_021288 disease not phenotype-associated VAR_021289 commonName VAR_021289 VAR_021289 disease not phenotype-associated VAR_021290 commonName VAR_021290 VAR_021290 disease not phenotype-associated VAR_021292 commonName VAR_021292 VAR_021292 disease not phenotype-associated VAR_021293 commonName VAR_021293 VAR_021293 disease not phenotype-associated VAR_021294 commonName VAR_021294 VAR_021294 disease not phenotype-associated VAR_021295 commonName VAR_021295 VAR_021295 disease not phenotype-associated VAR_021297 commonName VAR_021297 VAR_021297 disease not phenotype-associated VAR_021298 commonName VAR_021298 VAR_021298 disease not phenotype-associated VAR_021299 commonName VAR_021299 VAR_021299 disease not phenotype-associated VAR_021300 commonName VAR_021300 VAR_021300 disease not phenotype-associated VAR_021301 commonName VAR_021301 VAR_021301 disease not phenotype-associated VAR_021302 commonName VAR_021302 VAR_021302 disease not phenotype-associated VAR_021303 commonName VAR_021303 VAR_021303 disease not phenotype-associated VAR_021304 commonName VAR_021304 VAR_021304 disease not phenotype-associated VAR_021305 commonName VAR_021305 VAR_021305 disease not phenotype-associated VAR_021306 commonName VAR_021306 VAR_021306 disease not phenotype-associated VAR_021307 commonName VAR_021307 VAR_021307 disease not phenotype-associated VAR_021308 commonName VAR_021308 VAR_021308 disease not phenotype-associated VAR_021309 commonName VAR_021309 VAR_021309 disease not phenotype-associated VAR_021310 commonName VAR_021310 VAR_021310 disease not phenotype-associated VAR_021311 commonName VAR_021311 VAR_021311 disease not phenotype-associated VAR_021312 commonName VAR_021312 VAR_021312 disease not phenotype-associated VAR_021313 commonName VAR_021313 VAR_021313 disease not phenotype-associated VAR_021314 commonName VAR_021314 VAR_021314 disease not phenotype-associated VAR_021315 commonName VAR_021315 VAR_021315 disease not phenotype-associated VAR_021316 commonName VAR_021316 VAR_021316 disease not phenotype-associated VAR_021317 commonName VAR_021317 VAR_021317 disease not phenotype-associated VAR_021318 commonName VAR_021318 VAR_021318 disease not phenotype-associated VAR_021319 commonName VAR_021319 VAR_021319 disease not phenotype-associated VAR_021320 commonName VAR_021320 VAR_021320 disease not phenotype-associated VAR_021321 commonName VAR_021321 VAR_021321 disease not phenotype-associated VAR_021322 commonName VAR_021322 VAR_021322 disease not phenotype-associated VAR_021323 commonName VAR_021323 VAR_021323 disease not phenotype-associated VAR_021324 commonName VAR_021324 VAR_021324 disease not phenotype-associated VAR_021325 commonName VAR_021325 VAR_021325 disease not phenotype-associated VAR_021326 commonName VAR_021326 VAR_021326 disease not phenotype-associated VAR_021327 commonName VAR_021327 VAR_021327 disease not phenotype-associated VAR_021328 commonName VAR_021328 VAR_021328 disease not phenotype-associated VAR_021329 commonName VAR_021329 VAR_021329 disease not phenotype-associated VAR_021337 commonName VAR_021337 VAR_021337 disease not phenotype-associated VAR_021338 commonName VAR_021338 VAR_021338 disease not phenotype-associated VAR_021339 commonName VAR_021339 VAR_021339 disease not phenotype-associated VAR_021340 commonName VAR_021340 VAR_021340 disease not phenotype-associated VAR_021341 commonName VAR_021341 VAR_021341 disease not phenotype-associated VAR_021343 commonName VAR_021343 VAR_021343 disease not phenotype-associated VAR_021344 commonName VAR_021344 VAR_021344 disease not phenotype-associated VAR_021345 commonName VAR_021345 VAR_021345 disease not phenotype-associated VAR_021346 commonName VAR_021346 VAR_021346 disease not phenotype-associated VAR_021347 commonName VAR_021347 VAR_021347 disease not phenotype-associated VAR_021348 commonName VAR_021348 VAR_021348 disease not phenotype-associated VAR_021349 commonName VAR_021349 VAR_021349 disease not phenotype-associated VAR_021350 commonName VAR_021350 VAR_021350 disease not phenotype-associated VAR_021351 commonName VAR_021351 VAR_021351 disease not phenotype-associated VAR_021352 commonName VAR_021352 VAR_021352 disease not phenotype-associated VAR_021353 commonName VAR_021353 VAR_021353 disease not phenotype-associated VAR_021354 commonName VAR_021354 VAR_021354 disease not phenotype-associated VAR_021355 commonName VAR_021355 VAR_021355 disease not phenotype-associated VAR_021356 commonName VAR_021356 VAR_021356 disease not phenotype-associated VAR_021357 commonName VAR_021357 VAR_021357 disease not phenotype-associated VAR_021359 commonName VAR_021359 VAR_021359 disease not phenotype-associated VAR_021360 commonName VAR_021360 VAR_021360 disease not phenotype-associated VAR_021361 commonName VAR_021361 VAR_021361 disease not phenotype-associated VAR_021362 commonName VAR_021362 VAR_021363 commonName VAR_021363 VAR_021363 disease not phenotype-associated VAR_021364 commonName VAR_021364 VAR_021364 disease not phenotype-associated VAR_021365 commonName VAR_021365 VAR_021365 disease not phenotype-associated VAR_021366 commonName VAR_021366 VAR_021366 disease not phenotype-associated VAR_021367 commonName VAR_021367 VAR_021367 disease not phenotype-associated VAR_021368 commonName VAR_021368 VAR_021368 disease not phenotype-associated VAR_021369 commonName VAR_021369 VAR_021369 disease not phenotype-associated VAR_021370 commonName VAR_021370 VAR_021370 disease phenotype-associated VAR_021370 phenoCommon Schimke immuno-osseous dysplasia (SIOD) [MIM:242900] VAR_021371 commonName VAR_021371 VAR_021371 disease phenotype-associated VAR_021371 phenoCommon Schimke immuno-osseous dysplasia (SIOD) [MIM:242900] VAR_021372 commonName VAR_021372 VAR_021372 disease phenotype-associated VAR_021372 phenoCommon Schimke immuno-osseous dysplasia (SIOD) [MIM:242900] VAR_021373 commonName VAR_021373 VAR_021373 disease phenotype-associated VAR_021373 phenoCommon Schimke immuno-osseous dysplasia (SIOD) [MIM:242900] VAR_021374 commonName VAR_021374 VAR_021374 disease phenotype-associated VAR_021374 phenoCommon Schimke immuno-osseous dysplasia (SIOD) [MIM:242900] VAR_021375 commonName VAR_021375 VAR_021375 disease phenotype-associated VAR_021375 phenoCommon Schimke immuno-osseous dysplasia (SIOD) [MIM:242900] VAR_021376 commonName VAR_021376 VAR_021376 disease phenotype-associated VAR_021376 phenoCommon Schimke immuno-osseous dysplasia (SIOD) [MIM:242900] VAR_021377 commonName VAR_021377 VAR_021377 disease phenotype-associated VAR_021377 phenoCommon Schimke immuno-osseous dysplasia (SIOD) [MIM:242900] VAR_021378 commonName VAR_021378 VAR_021378 disease not phenotype-associated VAR_021379 commonName VAR_021379 VAR_021379 disease phenotype-associated VAR_021379 phenoCommon Schimke immuno-osseous dysplasia (SIOD) [MIM:242900] VAR_021380 commonName VAR_021380 VAR_021380 disease not phenotype-associated VAR_021381 commonName VAR_021381 VAR_021381 disease phenotype-associated VAR_021381 phenoCommon Schimke immuno-osseous dysplasia (SIOD) [MIM:242900] VAR_021382 commonName VAR_021382 VAR_021382 disease phenotype-associated VAR_021382 phenoCommon Schimke immuno-osseous dysplasia (SIOD) [MIM:242900] VAR_021383 commonName VAR_021383 VAR_021383 disease not phenotype-associated VAR_021384 commonName VAR_021384 VAR_021384 disease not phenotype-associated VAR_021385 commonName VAR_021385 VAR_021385 disease phenotype-associated VAR_021385 phenoCommon Simpson-Golabi-Behmel syndrome type 1 (SGBS1) [MIM:312870] VAR_021386 commonName VAR_021386 VAR_021386 disease phenotype-associated VAR_021386 phenoCommon Waardenburg syndrome type 2E (WS2E) [MIM:611584] VAR_021387 commonName VAR_021387 VAR_021387 disease not phenotype-associated VAR_021388 commonName VAR_021388 VAR_021388 disease phenotype-associated VAR_021388 phenoCommon Congenital disorder of glycosylation type 1F (CDG1F) [MIM:609180] VAR_021389 commonName VAR_021389 VAR_021389 disease phenotype-associated VAR_021389 phenoCommon Congenital disorder of glycosylation type 1F (CDG1F) [MIM:609180] VAR_021390 commonName VAR_021390 VAR_021390 disease phenotype-associated VAR_021390 phenoCommon Congenital disorder of glycosylation type 1F (CDG1F) [MIM:609180] VAR_021391 commonName VAR_021391 VAR_021391 disease not phenotype-associated VAR_021392 commonName VAR_021392 VAR_021392 disease phenotype-associated VAR_021392 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110] VAR_021393 commonName VAR_021393 VAR_021393 disease phenotype-associated VAR_021393 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110] VAR_021394 commonName VAR_021394 VAR_021394 disease phenotype-associated VAR_021394 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110] VAR_021395 commonName VAR_021395 VAR_021395 disease not phenotype-associated VAR_021396 commonName VAR_021396 VAR_021396 disease not phenotype-associated VAR_021397 commonName VAR_021397 VAR_021397 disease not phenotype-associated VAR_021398 commonName VAR_021398 VAR_021398 disease not phenotype-associated VAR_021399 commonName VAR_021399 VAR_021399 disease not phenotype-associated VAR_021400 commonName VAR_021400 VAR_021400 disease not phenotype-associated VAR_021401 commonName VAR_021401 VAR_021401 disease not phenotype-associated VAR_021402 commonName VAR_021402 VAR_021402 disease not phenotype-associated VAR_021403 commonName VAR_021403 VAR_021403 disease not phenotype-associated VAR_021404 commonName VAR_021404 VAR_021404 disease not phenotype-associated VAR_021405 commonName VAR_021405 VAR_021405 disease not phenotype-associated VAR_021406 commonName VAR_021406 VAR_021406 disease not phenotype-associated VAR_021407 commonName VAR_021407 VAR_021407 disease not phenotype-associated VAR_021408 commonName VAR_021408 VAR_021408 disease not phenotype-associated VAR_021409 commonName VAR_021409 VAR_021409 disease not phenotype-associated VAR_021411 commonName VAR_021411 VAR_021411 disease not phenotype-associated VAR_021412 commonName VAR_021412 VAR_021412 disease not phenotype-associated VAR_021413 commonName VAR_021413 VAR_021413 disease phenotype-associated VAR_021413 phenoCommon Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD) [MIM:143095] VAR_021414 commonName VAR_021414 VAR_021414 disease not phenotype-associated VAR_021415 commonName VAR_021415 VAR_021415 disease not phenotype-associated VAR_021416 commonName VAR_021416 VAR_021416 disease not phenotype-associated VAR_021417 commonName VAR_021417 VAR_021417 disease phenotype-associated VAR_021417 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021418 commonName VAR_021418 VAR_021418 disease phenotype-associated VAR_021418 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021419 commonName VAR_021419 VAR_021419 disease phenotype-associated VAR_021419 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021420 commonName VAR_021420 VAR_021420 disease phenotype-associated VAR_021420 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021421 commonName VAR_021421 VAR_021421 disease phenotype-associated VAR_021421 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021422 commonName VAR_021422 VAR_021422 disease phenotype-associated VAR_021422 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021423 commonName VAR_021423 VAR_021423 disease phenotype-associated VAR_021423 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021424 commonName VAR_021424 VAR_021424 disease phenotype-associated VAR_021424 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021425 commonName VAR_021425 VAR_021425 disease phenotype-associated VAR_021425 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021426 commonName VAR_021426 VAR_021426 disease phenotype-associated VAR_021426 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021427 commonName VAR_021427 VAR_021427 disease phenotype-associated VAR_021427 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021428 commonName VAR_021428 VAR_021428 disease phenotype-associated VAR_021428 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021429 commonName VAR_021429 VAR_021429 disease phenotype-associated VAR_021429 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021430 commonName VAR_021430 VAR_021430 disease phenotype-associated VAR_021430 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021431 commonName VAR_021431 VAR_021431 disease phenotype-associated VAR_021431 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021432 commonName VAR_021432 VAR_021432 disease phenotype-associated VAR_021432 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021433 commonName VAR_021433 VAR_021433 disease phenotype-associated VAR_021433 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021434 commonName VAR_021434 VAR_021434 disease phenotype-associated VAR_021434 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021435 commonName VAR_021435 VAR_021435 disease phenotype-associated VAR_021435 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021436 commonName VAR_021436 VAR_021436 disease phenotype-associated VAR_021436 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021437 commonName VAR_021437 VAR_021437 disease phenotype-associated VAR_021437 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021438 commonName VAR_021438 VAR_021438 disease phenotype-associated VAR_021438 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021439 commonName VAR_021439 VAR_021439 disease phenotype-associated VAR_021439 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021440 commonName VAR_021440 VAR_021440 disease phenotype-associated VAR_021440 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021441 commonName VAR_021441 VAR_021441 disease phenotype-associated VAR_021441 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021442 commonName VAR_021442 VAR_021442 disease phenotype-associated VAR_021442 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021443 commonName VAR_021443 VAR_021443 disease phenotype-associated VAR_021443 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021444 commonName VAR_021444 VAR_021444 disease phenotype-associated VAR_021444 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021445 commonName VAR_021445 VAR_021445 disease phenotype-associated VAR_021445 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021446 commonName VAR_021446 VAR_021446 disease phenotype-associated VAR_021446 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021447 commonName VAR_021447 VAR_021447 disease phenotype-associated VAR_021447 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021448 commonName VAR_021448 VAR_021448 disease phenotype-associated VAR_021448 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021449 commonName VAR_021449 VAR_021449 disease phenotype-associated VAR_021449 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021450 commonName VAR_021450 VAR_021450 disease phenotype-associated VAR_021450 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021451 commonName VAR_021451 VAR_021451 disease phenotype-associated VAR_021451 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021452 commonName VAR_021452 VAR_021452 disease phenotype-associated VAR_021452 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021453 commonName VAR_021453 VAR_021453 disease phenotype-associated VAR_021453 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021454 commonName VAR_021454 VAR_021454 disease phenotype-associated VAR_021454 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021455 commonName VAR_021455 VAR_021455 disease phenotype-associated VAR_021455 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021456 commonName VAR_021456 VAR_021456 disease phenotype-associated VAR_021456 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021457 commonName VAR_021457 VAR_021457 disease phenotype-associated VAR_021457 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021458 commonName VAR_021458 VAR_021458 disease phenotype-associated VAR_021458 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021459 commonName VAR_021459 VAR_021459 disease phenotype-associated VAR_021459 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021460 commonName VAR_021460 VAR_021460 disease phenotype-associated VAR_021460 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021461 commonName VAR_021461 VAR_021461 disease phenotype-associated VAR_021461 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021462 commonName VAR_021462 VAR_021462 disease phenotype-associated VAR_021462 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021463 commonName VAR_021463 VAR_021463 disease phenotype-associated VAR_021463 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021464 commonName VAR_021464 VAR_021464 disease phenotype-associated VAR_021464 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021465 commonName VAR_021465 VAR_021465 disease phenotype-associated VAR_021465 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021466 commonName VAR_021466 VAR_021466 disease phenotype-associated VAR_021466 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021467 commonName VAR_021467 VAR_021467 disease phenotype-associated VAR_021467 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021468 commonName VAR_021468 VAR_021468 disease phenotype-associated VAR_021468 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021469 commonName VAR_021469 VAR_021469 disease phenotype-associated VAR_021469 phenoCommon Macular corneal dystrophy (MCD) [MIM:217800] VAR_021470 commonName VAR_021470 VAR_021470 disease not phenotype-associated VAR_021471 commonName VAR_021471 VAR_021471 disease not phenotype-associated VAR_021472 commonName VAR_021472 VAR_021472 disease not phenotype-associated VAR_021473 commonName VAR_021473 VAR_021473 disease not phenotype-associated VAR_021474 commonName VAR_021474 VAR_021474 disease not phenotype-associated VAR_021477 commonName VAR_021477 VAR_021477 disease not phenotype-associated VAR_021478 commonName VAR_021478 VAR_021478 disease not phenotype-associated VAR_021479 commonName VAR_021479 VAR_021479 disease not phenotype-associated VAR_021480 commonName VAR_021480 VAR_021480 disease not phenotype-associated VAR_021481 commonName VAR_021481 VAR_021481 disease phenotype-associated VAR_021481 phenoCommon Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700] VAR_021482 commonName VAR_021482 VAR_021482 disease phenotype-associated VAR_021482 phenoCommon Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700] VAR_021483 commonName VAR_021483 VAR_021483 disease not phenotype-associated VAR_021484 commonName VAR_021484 VAR_021484 disease not phenotype-associated VAR_021485 commonName VAR_021485 VAR_021485 disease not phenotype-associated VAR_021487 commonName VAR_021487 VAR_021487 disease not phenotype-associated VAR_021488 commonName VAR_021488 VAR_021488 disease not phenotype-associated VAR_021489 commonName VAR_021489 VAR_021489 disease not phenotype-associated VAR_021490 commonName VAR_021490 VAR_021490 disease not phenotype-associated VAR_021491 commonName VAR_021491 VAR_021491 disease not phenotype-associated VAR_021492 commonName VAR_021492 VAR_021492 disease not phenotype-associated VAR_021493 commonName VAR_021493 VAR_021493 disease not phenotype-associated VAR_021494 commonName VAR_021494 VAR_021494 disease not phenotype-associated VAR_021495 commonName VAR_021495 VAR_021495 disease phenotype-associated VAR_021495 phenoCommon Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200] VAR_021496 commonName VAR_021496 VAR_021497 commonName VAR_021497 VAR_021498 commonName VAR_021498 VAR_021499 commonName VAR_021499 VAR_021499 disease phenotype-associated VAR_021499 phenoCommon Hyperthyroidism non-autoimmune (HTNA) [MIM:609152] VAR_021500 commonName VAR_021500 VAR_021501 commonName VAR_021501 VAR_021502 commonName VAR_021502 VAR_021502 disease phenotype-associated VAR_021502 phenoCommon Congenital glucose/galactose malabsorption (GGM) [MIM:606824] VAR_021503 commonName VAR_021503 VAR_021503 disease phenotype-associated VAR_021503 phenoCommon Congenital glucose/galactose malabsorption (GGM) [MIM:606824] VAR_021504 commonName VAR_021504 VAR_021504 disease phenotype-associated VAR_021504 phenoCommon Congenital glucose/galactose malabsorption (GGM) [MIM:606824] VAR_021505 commonName VAR_021505 VAR_021505 disease not phenotype-associated VAR_021506 commonName VAR_021506 VAR_021506 disease not phenotype-associated VAR_021507 commonName VAR_021507 VAR_021507 disease not phenotype-associated VAR_021508 commonName VAR_021508 VAR_021508 disease not phenotype-associated VAR_021509 commonName VAR_021509 VAR_021509 disease not phenotype-associated VAR_021510 commonName VAR_021510 VAR_021510 disease not phenotype-associated VAR_021511 commonName VAR_021511 VAR_021511 disease not phenotype-associated VAR_021512 commonName VAR_021512 VAR_021512 disease phenotype-associated VAR_021512 phenoCommon Combined oxidative phosphorylation deficiency type 1 (COXPD1) [MIM:609060] VAR_021514 commonName VAR_021514 VAR_021514 disease not phenotype-associated VAR_021515 commonName VAR_021515 VAR_021515 disease not phenotype-associated VAR_021516 commonName VAR_021516 VAR_021516 disease not phenotype-associated VAR_021518 commonName VAR_021518 VAR_021518 disease not phenotype-associated VAR_021519 commonName VAR_021519 VAR_021519 disease not phenotype-associated VAR_021520 commonName VAR_021520 VAR_021520 disease not phenotype-associated VAR_021522 commonName VAR_021522 VAR_021522 disease not phenotype-associated VAR_021523 commonName VAR_021523 VAR_021523 disease not phenotype-associated VAR_021524 commonName VAR_021524 VAR_021524 disease phenotype-associated VAR_021524 phenoCommon Deafness autosomal recessive type 6 (DFNB6) [MIM:600971] VAR_021525 commonName VAR_021525 VAR_021525 disease phenotype-associated VAR_021525 phenoCommon Deafness autosomal recessive type 6 (DFNB6) [MIM:600971] VAR_021526 commonName VAR_021526 VAR_021526 disease phenotype-associated VAR_021526 phenoCommon Deafness autosomal recessive type 6 (DFNB6) [MIM:600971] VAR_021527 commonName VAR_021527 VAR_021527 disease not phenotype-associated VAR_021529 commonName VAR_021529 VAR_021529 disease not phenotype-associated VAR_021530 commonName VAR_021530 VAR_021530 disease not phenotype-associated VAR_021531 commonName VAR_021531 VAR_021531 disease not phenotype-associated VAR_021532 commonName VAR_021532 VAR_021532 disease not phenotype-associated VAR_021533 commonName VAR_021533 VAR_021533 disease not phenotype-associated VAR_021534 commonName VAR_021534 VAR_021534 disease phenotype-associated VAR_021534 phenoCommon Rickets vitamin D-dependent type 1B (VDDR1B) [MIM:600081] VAR_021535 commonName VAR_021535 VAR_021535 disease not phenotype-associated VAR_021536 commonName VAR_021536 VAR_021536 disease not phenotype-associated VAR_021537 commonName VAR_021537 VAR_021537 disease phenotype-associated VAR_021537 phenoCommon Primary open angle glaucoma type 1E (GLC1E) [MIM:137760] VAR_021538 commonName VAR_021538 VAR_021538 disease phenotype-associated VAR_021538 phenoCommon Primary open angle glaucoma type 1E (GLC1E) [MIM:137760] VAR_021539 commonName VAR_021539 VAR_021539 disease not phenotype-associated VAR_021540 commonName VAR_021540 VAR_021540 disease phenotype-associated VAR_021540 phenoCommon Primary open angle glaucoma type 1E (GLC1E) [MIM:137760] VAR_021541 commonName VAR_021541 VAR_021541 disease not phenotype-associated VAR_021542 commonName VAR_021542 VAR_021543 commonName VAR_021543 VAR_021543 disease not phenotype-associated VAR_021544 commonName VAR_021544 VAR_021544 disease not phenotype-associated VAR_021545 commonName VAR_021545 VAR_021545 disease not phenotype-associated VAR_021546 commonName VAR_021546 VAR_021546 disease phenotype-associated VAR_021546 phenoCommon Primary open angle glaucoma type 1E (GLC1E) [MIM:137760] VAR_021548 commonName VAR_021548 VAR_021548 disease not phenotype-associated VAR_021549 commonName VAR_021549 VAR_021549 disease phenotype-associated VAR_021549 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780] VAR_021550 commonName VAR_021550 VAR_021550 disease phenotype-associated VAR_021550 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780] VAR_021551 commonName VAR_021551 VAR_021551 disease phenotype-associated VAR_021551 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780] VAR_021552 commonName VAR_021552 VAR_021552 disease phenotype-associated VAR_021552 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780] VAR_021554 commonName VAR_021554 VAR_021554 disease phenotype-associated VAR_021554 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780] VAR_021555 commonName VAR_021555 VAR_021555 disease not phenotype-associated VAR_021556 commonName VAR_021556 VAR_021556 disease not phenotype-associated VAR_021557 commonName VAR_021557 VAR_021557 disease not phenotype-associated VAR_021558 commonName VAR_021558 VAR_021558 disease not phenotype-associated VAR_021559 commonName VAR_021559 VAR_021559 disease not phenotype-associated VAR_021560 commonName VAR_021560 VAR_021560 disease not phenotype-associated VAR_021561 commonName VAR_021561 VAR_021561 disease not phenotype-associated VAR_021564 commonName VAR_021564 VAR_021564 disease not phenotype-associated VAR_021565 commonName VAR_021565 VAR_021565 disease not phenotype-associated VAR_021566 commonName VAR_021566 VAR_021566 disease not phenotype-associated VAR_021567 commonName VAR_021567 VAR_021567 disease not phenotype-associated VAR_021568 commonName VAR_021568 VAR_021568 disease not phenotype-associated VAR_021569 commonName VAR_021569 VAR_021569 disease phenotype-associated VAR_021569 phenoCommon Limb-girdle muscular dystrophy type 1A (LGMD1A) [MIM:159000] VAR_021569 phenoCommon Myopathy myofibrillar type 3 (MFM3) [MIM:609200] VAR_021570 commonName VAR_021570 VAR_021570 disease phenotype-associated VAR_021570 phenoCommon Limb-girdle muscular dystrophy type 1A (LGMD1A) [MIM:159000] VAR_021571 commonName VAR_021571 VAR_021571 disease phenotype-associated VAR_021571 phenoCommon Myopathy myofibrillar type 3 (MFM3) [MIM:609200] VAR_021572 commonName VAR_021572 VAR_021572 disease phenotype-associated VAR_021572 phenoCommon Myopathy myofibrillar type 3 (MFM3) [MIM:609200] VAR_021573 commonName VAR_021573 VAR_021573 disease phenotype-associated VAR_021573 phenoCommon Myopathy myofibrillar type 3 (MFM3) [MIM:609200] VAR_021574 commonName VAR_021574 VAR_021574 disease not phenotype-associated VAR_021575 commonName VAR_021575 VAR_021575 disease not phenotype-associated VAR_021576 commonName VAR_021576 VAR_021576 disease not phenotype-associated VAR_021577 commonName VAR_021577 VAR_021577 disease not phenotype-associated VAR_021578 commonName VAR_021578 VAR_021578 disease not phenotype-associated VAR_021579 commonName VAR_021579 VAR_021579 disease phenotype-associated VAR_021579 phenoCommon Farber lipogranulomatosis (FL) [MIM:228000] VAR_021581 commonName VAR_021581 VAR_021581 disease phenotype-associated VAR_021581 phenoCommon Farber lipogranulomatosis (FL) [MIM:228000] VAR_021582 commonName VAR_021582 VAR_021582 disease phenotype-associated VAR_021582 phenoCommon Farber lipogranulomatosis (FL) [MIM:228000] VAR_021583 commonName VAR_021583 VAR_021583 disease phenotype-associated VAR_021583 phenoCommon Farber lipogranulomatosis (FL) [MIM:228000] VAR_021584 commonName VAR_021584 VAR_021584 disease phenotype-associated VAR_021584 phenoCommon Farber lipogranulomatosis (FL) [MIM:228000] VAR_021585 commonName VAR_021585 VAR_021585 disease phenotype-associated VAR_021585 phenoCommon Farber lipogranulomatosis (FL) [MIM:228000] VAR_021586 commonName VAR_021586 VAR_021586 disease phenotype-associated VAR_021586 phenoCommon Farber lipogranulomatosis (FL) [MIM:228000] VAR_021587 commonName VAR_021587 VAR_021587 disease not phenotype-associated VAR_021588 commonName VAR_021588 VAR_021588 disease not phenotype-associated VAR_021590 commonName VAR_021590 VAR_021590 disease not phenotype-associated VAR_021591 commonName VAR_021591 VAR_021591 disease not phenotype-associated VAR_021592 commonName VAR_021592 VAR_021592 disease not phenotype-associated VAR_021593 commonName VAR_021593 VAR_021593 disease not phenotype-associated VAR_021594 commonName VAR_021594 VAR_021594 disease not phenotype-associated VAR_021595 commonName VAR_021595 VAR_021595 disease not phenotype-associated VAR_021596 commonName VAR_021596 VAR_021596 disease not phenotype-associated VAR_021597 commonName VAR_021597 VAR_021597 disease not phenotype-associated VAR_021598 commonName VAR_021598 VAR_021598 disease phenotype-associated VAR_021598 phenoCommon Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470] VAR_021599 commonName VAR_021599 VAR_021599 disease phenotype-associated VAR_021599 phenoCommon Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470] VAR_021600 commonName VAR_021600 VAR_021600 disease phenotype-associated VAR_021600 phenoCommon Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470] VAR_021601 commonName VAR_021601 VAR_021601 disease phenotype-associated VAR_021601 phenoCommon Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470] VAR_021602 commonName VAR_021602 VAR_021602 disease phenotype-associated VAR_021602 phenoCommon Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470] VAR_021603 commonName VAR_021603 VAR_021603 disease phenotype-associated VAR_021603 phenoCommon Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470] VAR_021604 commonName VAR_021604 VAR_021604 disease phenotype-associated VAR_021604 phenoCommon Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470] VAR_021605 commonName VAR_021605 VAR_021605 disease phenotype-associated VAR_021605 phenoCommon Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470] VAR_021606 commonName VAR_021606 VAR_021606 disease phenotype-associated VAR_021606 phenoCommon Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470] VAR_021607 commonName VAR_021607 VAR_021607 disease phenotype-associated VAR_021607 phenoCommon Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470] VAR_021608 commonName VAR_021608 VAR_021608 disease phenotype-associated VAR_021608 phenoCommon Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470] VAR_021609 commonName VAR_021609 VAR_021609 disease phenotype-associated VAR_021609 phenoCommon Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677] VAR_021610 commonName VAR_021610 VAR_021610 disease phenotype-associated VAR_021610 phenoCommon Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677] VAR_021611 commonName VAR_021611 VAR_021611 disease phenotype-associated VAR_021611 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_021612 commonName VAR_021612 VAR_021612 disease phenotype-associated VAR_021612 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_021613 commonName VAR_021613 VAR_021613 disease phenotype-associated VAR_021613 phenoCommon Charcot-Marie-Tooth disease type 2E (CMT2E) [MIM:607684] VAR_021614 commonName VAR_021614 VAR_021614 disease phenotype-associated VAR_021614 phenoCommon Charcot-Marie-Tooth disease type 1F (CMT1F) [MIM:607734] VAR_021614 phenoCommon Charcot-Marie-Tooth disease type 2E (CMT2E) [MIM:607684] VAR_021615 commonName VAR_021615 VAR_021615 disease phenotype-associated VAR_021615 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700] VAR_021616 commonName VAR_021616 VAR_021616 disease phenotype-associated VAR_021616 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700] VAR_021617 commonName VAR_021617 VAR_021617 disease phenotype-associated VAR_021617 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700] VAR_021618 commonName VAR_021618 VAR_021618 disease phenotype-associated VAR_021618 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700] VAR_021619 commonName VAR_021619 VAR_021619 disease phenotype-associated VAR_021619 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700] VAR_021621 commonName VAR_021621 VAR_021621 disease phenotype-associated VAR_021621 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700] VAR_021622 commonName VAR_021622 VAR_021622 disease phenotype-associated VAR_021622 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] VAR_021623 commonName VAR_021623 VAR_021623 disease phenotype-associated VAR_021623 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] VAR_021624 commonName VAR_021624 VAR_021624 disease phenotype-associated VAR_021624 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] VAR_021625 commonName VAR_021625 VAR_021625 disease phenotype-associated VAR_021625 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] VAR_021626 commonName VAR_021626 VAR_021626 disease phenotype-associated VAR_021626 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] VAR_021627 commonName VAR_021627 VAR_021627 disease phenotype-associated VAR_021627 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] VAR_021628 commonName VAR_021628 VAR_021628 disease phenotype-associated VAR_021628 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] VAR_021629 commonName VAR_021629 VAR_021629 disease phenotype-associated VAR_021629 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] VAR_021630 commonName VAR_021630 VAR_021630 disease phenotype-associated VAR_021630 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] VAR_021631 commonName VAR_021631 VAR_021631 disease phenotype-associated VAR_021631 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] VAR_021632 commonName VAR_021632 VAR_021632 disease phenotype-associated VAR_021632 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] VAR_021633 commonName VAR_021633 VAR_021633 disease phenotype-associated VAR_021633 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] VAR_021634 commonName VAR_021634 VAR_021634 disease phenotype-associated VAR_021634 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] VAR_021635 commonName VAR_021635 VAR_021635 disease phenotype-associated VAR_021635 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] VAR_021636 commonName VAR_021636 VAR_021636 disease phenotype-associated VAR_021636 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] VAR_021637 commonName VAR_021637 VAR_021637 disease phenotype-associated VAR_021637 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] VAR_021638 commonName VAR_021638 VAR_021639 commonName VAR_021639 VAR_021639 disease phenotype-associated VAR_021639 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] VAR_021639 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_021640 commonName VAR_021640 VAR_021640 disease phenotype-associated VAR_021640 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_021641 commonName VAR_021641 VAR_021641 disease phenotype-associated VAR_021641 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_021642 commonName VAR_021642 VAR_021642 disease phenotype-associated VAR_021642 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] VAR_021643 commonName VAR_021643 VAR_021643 disease phenotype-associated VAR_021643 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_021644 commonName VAR_021644 VAR_021645 commonName VAR_021645 VAR_021645 disease phenotype-associated VAR_021645 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_021646 commonName VAR_021646 VAR_021646 disease phenotype-associated VAR_021646 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_021647 commonName VAR_021647 VAR_021647 disease phenotype-associated VAR_021647 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] VAR_021647 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_021648 commonName VAR_021648 VAR_021648 disease phenotype-associated VAR_021648 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] VAR_021649 commonName VAR_021649 VAR_021649 disease phenotype-associated VAR_021649 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_021650 commonName VAR_021650 VAR_021650 disease phenotype-associated VAR_021650 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_021651 commonName VAR_021651 VAR_021651 disease phenotype-associated VAR_021651 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_021652 commonName VAR_021652 VAR_021652 disease phenotype-associated VAR_021652 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_021653 commonName VAR_021653 VAR_021653 disease phenotype-associated VAR_021653 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] VAR_021653 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_021654 commonName VAR_021654 VAR_021654 disease phenotype-associated VAR_021654 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] VAR_021655 commonName VAR_021655 VAR_021655 disease phenotype-associated VAR_021655 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_021656 commonName VAR_021656 VAR_021656 disease phenotype-associated VAR_021656 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] VAR_021656 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_021657 commonName VAR_021657 VAR_021657 disease phenotype-associated VAR_021657 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_021658 commonName VAR_021658 VAR_021658 disease phenotype-associated VAR_021658 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] VAR_021659 commonName VAR_021659 VAR_021659 disease phenotype-associated VAR_021659 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_021660 commonName VAR_021660 VAR_021660 disease phenotype-associated VAR_021660 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] VAR_021661 commonName VAR_021661 VAR_021661 disease phenotype-associated VAR_021661 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] VAR_021661 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_021662 commonName VAR_021662 VAR_021662 disease phenotype-associated VAR_021662 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_021663 commonName VAR_021663 VAR_021665 commonName VAR_021665 VAR_021665 disease phenotype-associated VAR_021665 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] VAR_021665 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_021666 commonName VAR_021666 VAR_021666 disease phenotype-associated VAR_021666 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] VAR_021667 commonName VAR_021667 VAR_021667 disease phenotype-associated VAR_021667 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] VAR_021668 commonName VAR_021668 VAR_021668 disease phenotype-associated VAR_021668 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_021669 commonName VAR_021669 VAR_021669 disease phenotype-associated VAR_021669 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] VAR_021670 commonName VAR_021670 VAR_021670 disease phenotype-associated VAR_021670 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_021671 commonName VAR_021671 VAR_021671 disease phenotype-associated VAR_021671 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_021672 commonName VAR_021672 VAR_021672 disease phenotype-associated VAR_021672 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_021673 commonName VAR_021673 VAR_021673 disease phenotype-associated VAR_021673 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_021674 commonName VAR_021674 VAR_021674 disease phenotype-associated VAR_021674 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_021675 commonName VAR_021675 VAR_021675 disease not phenotype-associated VAR_021676 commonName VAR_021676 VAR_021676 disease phenotype-associated VAR_021676 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_021677 commonName VAR_021677 VAR_021677 disease phenotype-associated VAR_021677 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_021678 commonName VAR_021678 VAR_021678 disease phenotype-associated VAR_021678 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] VAR_021679 commonName VAR_021679 VAR_021680 commonName VAR_021680 VAR_021680 disease phenotype-associated VAR_021680 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_021681 commonName VAR_021681 VAR_021681 disease phenotype-associated VAR_021681 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_021683 commonName VAR_021683 VAR_021683 disease phenotype-associated VAR_021683 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021684 commonName VAR_021684 VAR_021684 disease phenotype-associated VAR_021684 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021685 commonName VAR_021685 VAR_021685 disease phenotype-associated VAR_021685 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021686 commonName VAR_021686 VAR_021686 disease phenotype-associated VAR_021686 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021687 commonName VAR_021687 VAR_021687 disease phenotype-associated VAR_021687 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021688 commonName VAR_021688 VAR_021688 disease phenotype-associated VAR_021688 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021689 commonName VAR_021689 VAR_021689 disease phenotype-associated VAR_021689 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021690 commonName VAR_021690 VAR_021690 disease phenotype-associated VAR_021690 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021691 commonName VAR_021691 VAR_021691 disease phenotype-associated VAR_021691 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021692 commonName VAR_021692 VAR_021692 disease phenotype-associated VAR_021692 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021693 commonName VAR_021693 VAR_021693 disease phenotype-associated VAR_021693 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021694 commonName VAR_021694 VAR_021694 disease phenotype-associated VAR_021694 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021695 commonName VAR_021695 VAR_021695 disease phenotype-associated VAR_021695 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021696 commonName VAR_021696 VAR_021696 disease phenotype-associated VAR_021696 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021697 commonName VAR_021697 VAR_021697 disease phenotype-associated VAR_021697 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021699 commonName VAR_021699 VAR_021699 disease phenotype-associated VAR_021699 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021700 commonName VAR_021700 VAR_021700 disease phenotype-associated VAR_021700 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021701 commonName VAR_021701 VAR_021701 disease phenotype-associated VAR_021701 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021702 commonName VAR_021702 VAR_021702 disease phenotype-associated VAR_021702 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021703 commonName VAR_021703 VAR_021703 disease phenotype-associated VAR_021703 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021704 commonName VAR_021704 VAR_021704 disease phenotype-associated VAR_021704 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021705 commonName VAR_021705 VAR_021705 disease phenotype-associated VAR_021705 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021706 commonName VAR_021706 VAR_021706 disease phenotype-associated VAR_021706 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021707 commonName VAR_021707 VAR_021707 disease phenotype-associated VAR_021707 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021708 commonName VAR_021708 VAR_021708 disease phenotype-associated VAR_021708 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021709 commonName VAR_021709 VAR_021709 disease phenotype-associated VAR_021709 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021710 commonName VAR_021710 VAR_021710 disease phenotype-associated VAR_021710 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021711 commonName VAR_021711 VAR_021711 disease phenotype-associated VAR_021711 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021712 commonName VAR_021712 VAR_021712 disease phenotype-associated VAR_021712 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021713 commonName VAR_021713 VAR_021713 disease phenotype-associated VAR_021713 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021714 commonName VAR_021714 VAR_021714 disease phenotype-associated VAR_021714 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021715 commonName VAR_021715 VAR_021715 disease phenotype-associated VAR_021715 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021716 commonName VAR_021716 VAR_021716 disease phenotype-associated VAR_021716 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021717 commonName VAR_021717 VAR_021717 disease phenotype-associated VAR_021717 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021718 commonName VAR_021718 VAR_021718 disease phenotype-associated VAR_021718 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021719 commonName VAR_021719 VAR_021719 disease phenotype-associated VAR_021719 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021720 commonName VAR_021720 VAR_021720 disease phenotype-associated VAR_021720 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021721 commonName VAR_021721 VAR_021721 disease phenotype-associated VAR_021721 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021722 commonName VAR_021722 VAR_021722 disease phenotype-associated VAR_021722 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021723 commonName VAR_021723 VAR_021723 disease phenotype-associated VAR_021723 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021724 commonName VAR_021724 VAR_021724 disease phenotype-associated VAR_021724 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021725 commonName VAR_021725 VAR_021725 disease phenotype-associated VAR_021725 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021726 commonName VAR_021726 VAR_021726 disease phenotype-associated VAR_021726 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021727 commonName VAR_021727 VAR_021727 disease phenotype-associated VAR_021727 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021728 commonName VAR_021728 VAR_021728 disease phenotype-associated VAR_021728 phenoCommon Albinism oculocutaneous type 1A (OCA1A) [MIM:203100] VAR_021730 commonName VAR_021730 VAR_021730 disease phenotype-associated VAR_021730 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_021731 commonName VAR_021731 VAR_021731 disease phenotype-associated VAR_021731 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_021732 commonName VAR_021732 VAR_021732 disease phenotype-associated VAR_021732 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_021733 commonName VAR_021733 VAR_021733 disease phenotype-associated VAR_021733 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_021734 commonName VAR_021734 VAR_021734 disease phenotype-associated VAR_021734 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_021735 commonName VAR_021735 VAR_021735 disease phenotype-associated VAR_021735 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_021736 commonName VAR_021736 VAR_021736 disease phenotype-associated VAR_021736 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_021737 commonName VAR_021737 VAR_021737 disease phenotype-associated VAR_021737 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_021738 commonName VAR_021738 VAR_021738 disease phenotype-associated VAR_021738 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_021739 commonName VAR_021739 VAR_021740 commonName VAR_021740 VAR_021740 disease phenotype-associated VAR_021740 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_021741 commonName VAR_021741 VAR_021741 disease phenotype-associated VAR_021741 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_021742 commonName VAR_021742 VAR_021742 disease not phenotype-associated VAR_021743 commonName VAR_021743 VAR_021743 disease phenotype-associated VAR_021743 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_021744 commonName VAR_021744 VAR_021744 disease phenotype-associated VAR_021744 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_021745 commonName VAR_021745 VAR_021745 disease phenotype-associated VAR_021745 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_021746 commonName VAR_021746 VAR_021746 disease phenotype-associated VAR_021746 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_021747 commonName VAR_021747 VAR_021747 disease phenotype-associated VAR_021747 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_021748 commonName VAR_021748 VAR_021748 disease phenotype-associated VAR_021748 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_021749 commonName VAR_021749 VAR_021749 disease phenotype-associated VAR_021749 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_021750 commonName VAR_021750 VAR_021750 disease phenotype-associated VAR_021750 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_021751 commonName VAR_021751 VAR_021751 disease phenotype-associated VAR_021751 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_021752 commonName VAR_021752 VAR_021752 disease phenotype-associated VAR_021752 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_021753 commonName VAR_021753 VAR_021753 disease phenotype-associated VAR_021753 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_021754 commonName VAR_021754 VAR_021754 disease phenotype-associated VAR_021754 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_021755 commonName VAR_021755 VAR_021755 disease phenotype-associated VAR_021755 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_021756 commonName VAR_021756 VAR_021756 disease phenotype-associated VAR_021756 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_021757 commonName VAR_021757 VAR_021757 disease phenotype-associated VAR_021757 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_021758 commonName VAR_021758 VAR_021758 disease phenotype-associated VAR_021758 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_021759 commonName VAR_021759 VAR_021759 disease phenotype-associated VAR_021759 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_021760 commonName VAR_021760 VAR_021760 disease phenotype-associated VAR_021760 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_021762 commonName VAR_021762 VAR_021762 disease phenotype-associated VAR_021762 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_021763 commonName VAR_021763 VAR_021763 disease phenotype-associated VAR_021763 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_021764 commonName VAR_021764 VAR_021764 disease phenotype-associated VAR_021764 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_021765 commonName VAR_021765 VAR_021765 disease phenotype-associated VAR_021765 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_021766 commonName VAR_021766 VAR_021766 disease phenotype-associated VAR_021766 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_021767 commonName VAR_021767 VAR_021767 disease phenotype-associated VAR_021767 phenoCommon BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630] VAR_021768 commonName VAR_021768 VAR_021768 disease phenotype-associated VAR_021768 phenoCommon BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630] VAR_021769 commonName VAR_021769 VAR_021769 disease phenotype-associated VAR_021769 phenoCommon BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630] VAR_021770 commonName VAR_021770 VAR_021770 disease phenotype-associated VAR_021770 phenoCommon BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630] VAR_021771 commonName VAR_021771 VAR_021771 disease phenotype-associated VAR_021771 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737] VAR_021772 commonName VAR_021772 VAR_021772 disease phenotype-associated VAR_021772 phenoCommon Nonaka myopathy (NM) [MIM:605820] VAR_021773 commonName VAR_021773 VAR_021773 disease phenotype-associated VAR_021773 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737] VAR_021774 commonName VAR_021774 VAR_021774 disease phenotype-associated VAR_021774 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737] VAR_021775 commonName VAR_021775 VAR_021775 disease phenotype-associated VAR_021775 phenoCommon Nonaka myopathy (NM) [MIM:605820] VAR_021776 commonName VAR_021776 VAR_021776 disease phenotype-associated VAR_021776 phenoCommon Nonaka myopathy (NM) [MIM:605820] VAR_021777 commonName VAR_021777 VAR_021777 disease phenotype-associated VAR_021777 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737] VAR_021778 commonName VAR_021778 VAR_021778 disease phenotype-associated VAR_021778 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737] VAR_021779 commonName VAR_021779 VAR_021779 disease phenotype-associated VAR_021779 phenoCommon Nonaka myopathy (NM) [MIM:605820] VAR_021780 commonName VAR_021780 VAR_021780 disease phenotype-associated VAR_021780 phenoCommon Nonaka myopathy (NM) [MIM:605820] VAR_021781 commonName VAR_021781 VAR_021781 disease phenotype-associated VAR_021781 phenoCommon Nonaka myopathy (NM) [MIM:605820] VAR_021782 commonName VAR_021782 VAR_021782 disease phenotype-associated VAR_021782 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737] VAR_021783 commonName VAR_021783 VAR_021783 disease phenotype-associated VAR_021783 phenoCommon Inclusion body myopathy type 2 (IBM2) [MIM:600737] VAR_021784 commonName VAR_021784 VAR_021784 disease phenotype-associated VAR_021784 phenoCommon Nonaka myopathy (NM) [MIM:605820] VAR_021785 commonName VAR_021785 VAR_021785 disease phenotype-associated VAR_021785 phenoCommon Mental retardation X-linked type 89 (MRX89) [MIM:300848] VAR_021786 commonName VAR_021786 VAR_021786 disease not phenotype-associated VAR_021787 commonName VAR_021787 VAR_021787 disease not phenotype-associated VAR_021788 commonName VAR_021788 VAR_021788 disease phenotype-associated VAR_021788 phenoCommon Myopathy with lactic acidosis and sideroblastic anemia type 1 (MLASA1) [MIM:600462] VAR_021789 commonName VAR_021789 VAR_021789 disease not phenotype-associated VAR_021790 commonName VAR_021790 VAR_021790 disease phenotype-associated VAR_021790 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_021791 commonName VAR_021791 VAR_021791 disease phenotype-associated VAR_021791 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_021792 commonName VAR_021792 VAR_021792 disease phenotype-associated VAR_021792 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_021793 commonName VAR_021793 VAR_021793 disease phenotype-associated VAR_021793 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_021794 commonName VAR_021794 VAR_021794 disease phenotype-associated VAR_021794 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_021795 commonName VAR_021795 VAR_021795 disease phenotype-associated VAR_021795 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_021796 commonName VAR_021796 VAR_021796 disease phenotype-associated VAR_021796 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_021797 commonName VAR_021797 VAR_021797 disease phenotype-associated VAR_021797 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_021798 commonName VAR_021798 VAR_021798 disease phenotype-associated VAR_021798 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_021799 commonName VAR_021799 VAR_021799 disease phenotype-associated VAR_021799 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_021800 commonName VAR_021800 VAR_021800 disease phenotype-associated VAR_021800 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_021801 commonName VAR_021801 VAR_021801 disease phenotype-associated VAR_021801 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_021802 commonName VAR_021802 VAR_021802 disease phenotype-associated VAR_021802 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_021806 commonName VAR_021806 VAR_021806 disease not phenotype-associated VAR_021807 commonName VAR_021807 VAR_021807 disease phenotype-associated VAR_021807 phenoCommon Osteopetrosis autosomal dominant type 1 (OPTA1) [MIM:607634] VAR_021808 commonName VAR_021808 VAR_021808 disease phenotype-associated VAR_021808 phenoCommon Osteopetrosis autosomal dominant type 1 (OPTA1) [MIM:607634] VAR_021809 commonName VAR_021809 VAR_021809 disease phenotype-associated VAR_021809 phenoCommon High bone mass trait (HBM) [MIM:601884] VAR_021810 commonName VAR_021810 VAR_021810 disease phenotype-associated VAR_021810 phenoCommon Endosteal hyperostosis Worth type (WENHY) [MIM:144750] VAR_021811 commonName VAR_021811 VAR_021811 disease phenotype-associated VAR_021811 phenoCommon Endosteal hyperostosis Worth type (WENHY) [MIM:144750] VAR_021812 commonName VAR_021812 VAR_021812 disease phenotype-associated VAR_021812 phenoCommon Endosteal hyperostosis Worth type (WENHY) [MIM:144750] VAR_021812 phenoCommon Osteopetrosis autosomal dominant type 1 (OPTA1) [MIM:607634] VAR_021812 phenoCommon Van Buchem disease type 2 (VBCH2) [MIM:607636] VAR_021813 commonName VAR_021813 VAR_021813 disease phenotype-associated VAR_021813 phenoCommon Osteopetrosis autosomal dominant type 1 (OPTA1) [MIM:607634] VAR_021814 commonName VAR_021814 VAR_021814 disease phenotype-associated VAR_021814 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] VAR_021815 commonName VAR_021815 VAR_021815 disease phenotype-associated VAR_021815 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] VAR_021816 commonName VAR_021816 VAR_021816 disease not phenotype-associated VAR_021818 commonName VAR_021818 VAR_021818 disease phenotype-associated VAR_021818 phenoCommon Carnitine-acylcarnitine translocase deficiency (CACT deficiency) [MIM:212138] VAR_021819 commonName VAR_021819 VAR_021819 disease phenotype-associated VAR_021819 phenoCommon Carnitine-acylcarnitine translocase deficiency (CACT deficiency) [MIM:212138] VAR_021820 commonName VAR_021820 VAR_021820 disease phenotype-associated VAR_021820 phenoCommon Carnitine-acylcarnitine translocase deficiency (CACT deficiency) [MIM:212138] VAR_021821 commonName VAR_021821 VAR_021821 disease phenotype-associated VAR_021821 phenoCommon Coumarin resistance (CMRES) [MIM:122700] VAR_021822 commonName VAR_021822 VAR_021822 disease phenotype-associated VAR_021822 phenoCommon Coumarin resistance (CMRES) [MIM:122700] VAR_021823 commonName VAR_021823 VAR_021823 disease phenotype-associated VAR_021823 phenoCommon Coumarin resistance (CMRES) [MIM:122700] VAR_021824 commonName VAR_021824 VAR_021824 disease phenotype-associated VAR_021824 phenoCommon Combined deficiency of vitamin K-dependent clotting factors type 2 (VKCFD2) [MIM:607473] VAR_021825 commonName VAR_021825 VAR_021825 disease phenotype-associated VAR_021825 phenoCommon Coumarin resistance (CMRES) [MIM:122700] VAR_021826 commonName VAR_021826 VAR_021826 disease phenotype-associated VAR_021826 phenoCommon Combined deficiency of vitamin K-dependent clotting factors type 1 (VKCFD1) [MIM:277450] VAR_021827 commonName VAR_021827 VAR_021827 disease not phenotype-associated VAR_021828 commonName VAR_021828 VAR_021828 disease not phenotype-associated VAR_021829 commonName VAR_021829 VAR_021829 disease phenotype-associated VAR_021829 phenoCommon X-linked cleft palate with ankyloglossia (CPX) [MIM:303400] VAR_021830 commonName VAR_021830 VAR_021830 disease phenotype-associated VAR_021830 phenoCommon X-linked cleft palate with ankyloglossia (CPX) [MIM:303400] VAR_021831 commonName VAR_021831 VAR_021831 disease phenotype-associated VAR_021831 phenoCommon X-linked cleft palate with ankyloglossia (CPX) [MIM:303400] VAR_021832 commonName VAR_021832 VAR_021832 disease phenotype-associated VAR_021832 phenoCommon X-linked cleft palate with ankyloglossia (CPX) [MIM:303400] VAR_021833 commonName VAR_021833 VAR_021833 disease not phenotype-associated VAR_021834 commonName VAR_021834 VAR_021834 disease not phenotype-associated VAR_021835 commonName VAR_021835 VAR_021835 disease not phenotype-associated VAR_021837 commonName VAR_021837 VAR_021837 disease not phenotype-associated VAR_021838 commonName VAR_021838 VAR_021838 disease not phenotype-associated VAR_021839 commonName VAR_021839 VAR_021839 disease not phenotype-associated VAR_021840 commonName VAR_021840 VAR_021840 disease not phenotype-associated VAR_021841 commonName VAR_021841 VAR_021841 disease not phenotype-associated VAR_021842 commonName VAR_021842 VAR_021842 disease not phenotype-associated VAR_021843 commonName VAR_021843 VAR_021843 disease not phenotype-associated VAR_021844 commonName VAR_021844 VAR_021844 disease not phenotype-associated VAR_021845 commonName VAR_021845 VAR_021845 disease not phenotype-associated VAR_021846 commonName VAR_021846 VAR_021846 disease not phenotype-associated VAR_021847 commonName VAR_021847 VAR_021847 disease not phenotype-associated VAR_021849 commonName VAR_021849 VAR_021849 disease not phenotype-associated VAR_021850 commonName VAR_021850 VAR_021850 disease not phenotype-associated VAR_021851 commonName VAR_021851 VAR_021851 disease not phenotype-associated VAR_021852 commonName VAR_021852 VAR_021852 disease not phenotype-associated VAR_021853 commonName VAR_021853 VAR_021853 disease not phenotype-associated VAR_021854 commonName VAR_021854 VAR_021854 disease not phenotype-associated VAR_021855 commonName VAR_021855 VAR_021855 disease not phenotype-associated VAR_021856 commonName VAR_021856 VAR_021856 disease not phenotype-associated VAR_021857 commonName VAR_021857 VAR_021857 disease not phenotype-associated VAR_021858 commonName VAR_021858 VAR_021858 disease not phenotype-associated VAR_021859 commonName VAR_021859 VAR_021859 disease not phenotype-associated VAR_021860 commonName VAR_021860 VAR_021860 disease not phenotype-associated VAR_021861 commonName VAR_021861 VAR_021861 disease not phenotype-associated VAR_021862 commonName VAR_021862 VAR_021862 disease not phenotype-associated VAR_021864 commonName VAR_021864 VAR_021864 disease not phenotype-associated VAR_021865 commonName VAR_021865 VAR_021865 disease not phenotype-associated VAR_021866 commonName VAR_021866 VAR_021866 disease not phenotype-associated VAR_021867 commonName VAR_021867 VAR_021867 disease not phenotype-associated VAR_021868 commonName VAR_021868 VAR_021868 disease not phenotype-associated VAR_021869 commonName VAR_021869 VAR_021869 disease not phenotype-associated VAR_021870 commonName VAR_021870 VAR_021870 disease not phenotype-associated VAR_021871 commonName VAR_021871 VAR_021871 disease not phenotype-associated VAR_021872 commonName VAR_021872 VAR_021872 disease not phenotype-associated VAR_021873 commonName VAR_021873 VAR_021873 disease not phenotype-associated VAR_021874 commonName VAR_021874 VAR_021874 disease not phenotype-associated VAR_021875 commonName VAR_021875 VAR_021875 disease not phenotype-associated VAR_021876 commonName VAR_021876 VAR_021876 disease not phenotype-associated VAR_021877 commonName VAR_021877 VAR_021877 disease not phenotype-associated VAR_021878 commonName VAR_021878 VAR_021878 disease not phenotype-associated VAR_021879 commonName VAR_021879 VAR_021879 disease not phenotype-associated VAR_021880 commonName VAR_021880 VAR_021880 disease not phenotype-associated VAR_021881 commonName VAR_021881 VAR_021881 disease not phenotype-associated VAR_021882 commonName VAR_021882 VAR_021882 disease not phenotype-associated VAR_021883 commonName VAR_021883 VAR_021883 disease not phenotype-associated VAR_021884 commonName VAR_021884 VAR_021884 disease not phenotype-associated VAR_021885 commonName VAR_021885 VAR_021885 disease not phenotype-associated VAR_021886 commonName VAR_021886 VAR_021886 disease not phenotype-associated VAR_021887 commonName VAR_021887 VAR_021887 disease not phenotype-associated VAR_021888 commonName VAR_021888 VAR_021888 disease not phenotype-associated VAR_021889 commonName VAR_021889 VAR_021889 disease not phenotype-associated VAR_021891 commonName VAR_021891 VAR_021891 disease not phenotype-associated VAR_021892 commonName VAR_021892 VAR_021892 disease not phenotype-associated VAR_021893 commonName VAR_021893 VAR_021893 disease not phenotype-associated VAR_021894 commonName VAR_021894 VAR_021894 disease not phenotype-associated VAR_021895 commonName VAR_021895 VAR_021895 disease not phenotype-associated VAR_021896 commonName VAR_021896 VAR_021896 disease not phenotype-associated VAR_021897 commonName VAR_021897 VAR_021897 disease not phenotype-associated VAR_021898 commonName VAR_021898 VAR_021898 disease not phenotype-associated VAR_021901 commonName VAR_021901 VAR_021901 disease not phenotype-associated VAR_021902 commonName VAR_021902 VAR_021902 disease not phenotype-associated VAR_021903 commonName VAR_021903 VAR_021903 disease not phenotype-associated VAR_021904 commonName VAR_021904 VAR_021904 disease not phenotype-associated VAR_021905 commonName VAR_021905 VAR_021905 disease not phenotype-associated VAR_021906 commonName VAR_021906 VAR_021906 disease not phenotype-associated VAR_021907 commonName VAR_021907 VAR_021907 disease not phenotype-associated VAR_021909 commonName VAR_021909 VAR_021909 disease not phenotype-associated VAR_021910 commonName VAR_021910 VAR_021910 disease not phenotype-associated VAR_021911 commonName VAR_021911 VAR_021911 disease not phenotype-associated VAR_021913 commonName VAR_021913 VAR_021913 disease not phenotype-associated VAR_021915 commonName VAR_021915 VAR_021915 disease not phenotype-associated VAR_021916 commonName VAR_021916 VAR_021916 disease not phenotype-associated VAR_021918 commonName VAR_021918 VAR_021918 disease not phenotype-associated VAR_021919 commonName VAR_021919 VAR_021919 disease not phenotype-associated VAR_021920 commonName VAR_021920 VAR_021920 disease not phenotype-associated VAR_021921 commonName VAR_021921 VAR_021921 disease not phenotype-associated VAR_021922 commonName VAR_021922 VAR_021922 disease not phenotype-associated VAR_021923 commonName VAR_021923 VAR_021923 disease not phenotype-associated VAR_021924 commonName VAR_021924 VAR_021924 disease not phenotype-associated VAR_021925 commonName VAR_021925 VAR_021925 disease not phenotype-associated VAR_021926 commonName VAR_021926 VAR_021926 disease not phenotype-associated VAR_021927 commonName VAR_021927 VAR_021927 disease not phenotype-associated VAR_021928 commonName VAR_021928 VAR_021928 disease not phenotype-associated VAR_021930 commonName VAR_021930 VAR_021930 disease not phenotype-associated VAR_021931 commonName VAR_021931 VAR_021931 disease not phenotype-associated VAR_021933 commonName VAR_021933 VAR_021933 disease not phenotype-associated VAR_021934 commonName VAR_021934 VAR_021934 disease not phenotype-associated VAR_021935 commonName VAR_021935 VAR_021935 disease not phenotype-associated VAR_021936 commonName VAR_021936 VAR_021936 disease not phenotype-associated VAR_021937 commonName VAR_021937 VAR_021937 disease not phenotype-associated VAR_021939 commonName VAR_021939 VAR_021939 disease not phenotype-associated VAR_021940 commonName VAR_021940 VAR_021940 disease not phenotype-associated VAR_021941 commonName VAR_021941 VAR_021941 disease not phenotype-associated VAR_021942 commonName VAR_021942 VAR_021942 disease not phenotype-associated VAR_021943 commonName VAR_021943 VAR_021943 disease not phenotype-associated VAR_021944 commonName VAR_021944 VAR_021944 disease not phenotype-associated VAR_021945 commonName VAR_021945 VAR_021945 disease not phenotype-associated VAR_021946 commonName VAR_021946 VAR_021946 disease not phenotype-associated VAR_021947 commonName VAR_021947 VAR_021947 disease not phenotype-associated VAR_021948 commonName VAR_021948 VAR_021948 disease not phenotype-associated VAR_021949 commonName VAR_021949 VAR_021949 disease not phenotype-associated VAR_021951 commonName VAR_021951 VAR_021951 disease not phenotype-associated VAR_021952 commonName VAR_021952 VAR_021952 disease not phenotype-associated VAR_021953 commonName VAR_021953 VAR_021953 disease not phenotype-associated VAR_021955 commonName VAR_021955 VAR_021955 disease not phenotype-associated VAR_021956 commonName VAR_021956 VAR_021956 disease not phenotype-associated VAR_021958 commonName VAR_021958 VAR_021958 disease not phenotype-associated VAR_021959 commonName VAR_021959 VAR_021959 disease not phenotype-associated VAR_021962 commonName VAR_021962 VAR_021962 disease not phenotype-associated VAR_021963 commonName VAR_021963 VAR_021963 disease not phenotype-associated VAR_021964 commonName VAR_021964 VAR_021964 disease not phenotype-associated VAR_021965 commonName VAR_021965 VAR_021965 disease not phenotype-associated VAR_021966 commonName VAR_021966 VAR_021966 disease not phenotype-associated VAR_021967 commonName VAR_021967 VAR_021967 disease not phenotype-associated VAR_021969 commonName VAR_021969 VAR_021969 disease not phenotype-associated VAR_021971 commonName VAR_021971 VAR_021971 disease not phenotype-associated VAR_021973 commonName VAR_021973 VAR_021973 disease not phenotype-associated VAR_021974 commonName VAR_021974 VAR_021974 disease not phenotype-associated VAR_021975 commonName VAR_021975 VAR_021975 disease not phenotype-associated VAR_021976 commonName VAR_021976 VAR_021976 disease not phenotype-associated VAR_021977 commonName VAR_021977 VAR_021977 disease not phenotype-associated VAR_021978 commonName VAR_021978 VAR_021978 disease not phenotype-associated VAR_021979 commonName VAR_021979 VAR_021979 disease not phenotype-associated VAR_021980 commonName VAR_021980 VAR_021980 disease not phenotype-associated VAR_021981 commonName VAR_021981 VAR_021981 disease not phenotype-associated VAR_021982 commonName VAR_021982 VAR_021982 disease not phenotype-associated VAR_021983 commonName VAR_021983 VAR_021983 disease not phenotype-associated VAR_021984 commonName VAR_021984 VAR_021984 disease not phenotype-associated VAR_021985 commonName VAR_021985 VAR_021985 disease not phenotype-associated VAR_021986 commonName VAR_021986 VAR_021986 disease not phenotype-associated VAR_021987 commonName VAR_021987 VAR_021987 disease not phenotype-associated VAR_021988 commonName VAR_021988 VAR_021988 disease not phenotype-associated VAR_021989 commonName VAR_021989 VAR_021989 disease not phenotype-associated VAR_021990 commonName VAR_021990 VAR_021990 disease not phenotype-associated VAR_021991 commonName VAR_021991 VAR_021991 disease not phenotype-associated VAR_021992 commonName VAR_021992 VAR_021992 disease not phenotype-associated VAR_021993 commonName VAR_021993 VAR_021993 disease not phenotype-associated VAR_021994 commonName VAR_021994 VAR_021994 disease not phenotype-associated VAR_021996 commonName VAR_021996 VAR_021996 disease not phenotype-associated VAR_021997 commonName VAR_021997 VAR_021997 disease not phenotype-associated VAR_021998 commonName VAR_021998 VAR_021998 disease not phenotype-associated VAR_022000 commonName VAR_022000 VAR_022000 disease not phenotype-associated VAR_022001 commonName VAR_022001 VAR_022001 disease not phenotype-associated VAR_022002 commonName VAR_022002 VAR_022002 disease not phenotype-associated VAR_022003 commonName VAR_022003 VAR_022003 disease not phenotype-associated VAR_022004 commonName VAR_022004 VAR_022004 disease not phenotype-associated VAR_022005 commonName VAR_022005 VAR_022005 disease not phenotype-associated VAR_022006 commonName VAR_022006 VAR_022006 disease not phenotype-associated VAR_022007 commonName VAR_022007 VAR_022007 disease not phenotype-associated VAR_022008 commonName VAR_022008 VAR_022008 disease not phenotype-associated VAR_022009 commonName VAR_022009 VAR_022009 disease not phenotype-associated VAR_022011 commonName VAR_022011 VAR_022011 disease not phenotype-associated VAR_022015 commonName VAR_022015 VAR_022015 disease not phenotype-associated VAR_022016 commonName VAR_022016 VAR_022016 disease not phenotype-associated VAR_022017 commonName VAR_022017 VAR_022017 disease not phenotype-associated VAR_022018 commonName VAR_022018 VAR_022018 disease not phenotype-associated VAR_022019 commonName VAR_022019 VAR_022019 disease not phenotype-associated VAR_022020 commonName VAR_022020 VAR_022020 disease not phenotype-associated VAR_022021 commonName VAR_022021 VAR_022021 disease not phenotype-associated VAR_022022 commonName VAR_022022 VAR_022022 disease not phenotype-associated VAR_022023 commonName VAR_022023 VAR_022023 disease not phenotype-associated VAR_022024 commonName VAR_022024 VAR_022024 disease not phenotype-associated VAR_022026 commonName VAR_022026 VAR_022026 disease not phenotype-associated VAR_022027 commonName VAR_022027 VAR_022027 disease not phenotype-associated VAR_022028 commonName VAR_022028 VAR_022028 disease not phenotype-associated VAR_022029 commonName VAR_022029 VAR_022029 disease not phenotype-associated VAR_022030 commonName VAR_022030 VAR_022030 disease not phenotype-associated VAR_022031 commonName VAR_022031 VAR_022031 disease not phenotype-associated VAR_022032 commonName VAR_022032 VAR_022032 disease not phenotype-associated VAR_022033 commonName VAR_022033 VAR_022033 disease not phenotype-associated VAR_022034 commonName VAR_022034 VAR_022034 disease not phenotype-associated VAR_022035 commonName VAR_022035 VAR_022035 disease not phenotype-associated VAR_022039 commonName VAR_022039 VAR_022039 disease not phenotype-associated VAR_022041 commonName VAR_022041 VAR_022041 disease not phenotype-associated VAR_022042 commonName VAR_022042 VAR_022042 disease not phenotype-associated VAR_022044 commonName VAR_022044 VAR_022044 disease not phenotype-associated VAR_022045 commonName VAR_022045 VAR_022045 disease not phenotype-associated VAR_022047 commonName VAR_022047 VAR_022047 disease not phenotype-associated VAR_022048 commonName VAR_022048 VAR_022048 disease not phenotype-associated VAR_022049 commonName VAR_022049 VAR_022049 disease not phenotype-associated VAR_022050 commonName VAR_022050 VAR_022050 disease not phenotype-associated VAR_022051 commonName VAR_022051 VAR_022051 disease not phenotype-associated VAR_022052 commonName VAR_022052 VAR_022052 disease not phenotype-associated VAR_022053 commonName VAR_022053 VAR_022053 disease not phenotype-associated VAR_022054 commonName VAR_022054 VAR_022054 disease not phenotype-associated VAR_022055 commonName VAR_022055 VAR_022055 disease not phenotype-associated VAR_022056 commonName VAR_022056 VAR_022056 disease not phenotype-associated VAR_022057 commonName VAR_022057 VAR_022057 disease not phenotype-associated VAR_022058 commonName VAR_022058 VAR_022058 disease not phenotype-associated VAR_022059 commonName VAR_022059 VAR_022059 disease not phenotype-associated VAR_022060 commonName VAR_022060 VAR_022060 disease not phenotype-associated VAR_022061 commonName VAR_022061 VAR_022061 disease not phenotype-associated VAR_022062 commonName VAR_022062 VAR_022062 disease not phenotype-associated VAR_022063 commonName VAR_022063 VAR_022063 disease not phenotype-associated VAR_022064 commonName VAR_022064 VAR_022064 disease not phenotype-associated VAR_022065 commonName VAR_022065 VAR_022065 disease not phenotype-associated VAR_022066 commonName VAR_022066 VAR_022066 disease not phenotype-associated VAR_022067 commonName VAR_022067 VAR_022067 disease not phenotype-associated VAR_022068 commonName VAR_022068 VAR_022068 disease not phenotype-associated VAR_022069 commonName VAR_022069 VAR_022069 disease not phenotype-associated VAR_022071 commonName VAR_022071 VAR_022071 disease not phenotype-associated VAR_022072 commonName VAR_022072 VAR_022072 disease not phenotype-associated VAR_022073 commonName VAR_022073 VAR_022073 disease not phenotype-associated VAR_022074 commonName VAR_022074 VAR_022074 disease not phenotype-associated VAR_022075 commonName VAR_022075 VAR_022075 disease not phenotype-associated VAR_022076 commonName VAR_022076 VAR_022076 disease not phenotype-associated VAR_022077 commonName VAR_022077 VAR_022077 disease not phenotype-associated VAR_022078 commonName VAR_022078 VAR_022078 disease not phenotype-associated VAR_022079 commonName VAR_022079 VAR_022079 disease not phenotype-associated VAR_022080 commonName VAR_022080 VAR_022080 disease not phenotype-associated VAR_022081 commonName VAR_022081 VAR_022081 disease not phenotype-associated VAR_022082 commonName VAR_022082 VAR_022082 disease not phenotype-associated VAR_022083 commonName VAR_022083 VAR_022083 disease not phenotype-associated VAR_022084 commonName VAR_022084 VAR_022084 disease not phenotype-associated VAR_022085 commonName VAR_022085 VAR_022085 disease not phenotype-associated VAR_022086 commonName VAR_022086 VAR_022086 disease not phenotype-associated VAR_022088 commonName VAR_022088 VAR_022088 disease not phenotype-associated VAR_022089 commonName VAR_022089 VAR_022089 disease not phenotype-associated VAR_022090 commonName VAR_022090 VAR_022090 disease not phenotype-associated VAR_022091 commonName VAR_022091 VAR_022091 disease not phenotype-associated VAR_022092 commonName VAR_022092 VAR_022092 disease not phenotype-associated VAR_022093 commonName VAR_022093 VAR_022093 disease not phenotype-associated VAR_022094 commonName VAR_022094 VAR_022094 disease not phenotype-associated VAR_022095 commonName VAR_022095 VAR_022095 disease not phenotype-associated VAR_022096 commonName VAR_022096 VAR_022096 disease not phenotype-associated VAR_022097 commonName VAR_022097 VAR_022097 disease not phenotype-associated VAR_022098 commonName VAR_022098 VAR_022098 disease not phenotype-associated VAR_022099 commonName VAR_022099 VAR_022099 disease not phenotype-associated VAR_022100 commonName VAR_022100 VAR_022100 disease not phenotype-associated VAR_022101 commonName VAR_022101 VAR_022101 disease not phenotype-associated VAR_022102 commonName VAR_022102 VAR_022102 disease not phenotype-associated VAR_022103 commonName VAR_022103 VAR_022103 disease not phenotype-associated VAR_022104 commonName VAR_022104 VAR_022104 disease not phenotype-associated VAR_022105 commonName VAR_022105 VAR_022105 disease not phenotype-associated VAR_022106 commonName VAR_022106 VAR_022106 disease not phenotype-associated VAR_022107 commonName VAR_022107 VAR_022107 disease not phenotype-associated VAR_022108 commonName VAR_022108 VAR_022108 disease not phenotype-associated VAR_022109 commonName VAR_022109 VAR_022109 disease not phenotype-associated VAR_022110 commonName VAR_022110 VAR_022110 disease not phenotype-associated VAR_022111 commonName VAR_022111 VAR_022111 disease not phenotype-associated VAR_022112 commonName VAR_022112 VAR_022112 disease not phenotype-associated VAR_022113 commonName VAR_022113 VAR_022113 disease not phenotype-associated VAR_022114 commonName VAR_022114 VAR_022114 disease not phenotype-associated VAR_022115 commonName VAR_022115 VAR_022115 disease not phenotype-associated VAR_022116 commonName VAR_022116 VAR_022116 disease not phenotype-associated VAR_022117 commonName VAR_022117 VAR_022117 disease not phenotype-associated VAR_022118 commonName VAR_022118 VAR_022118 disease not phenotype-associated VAR_022119 commonName VAR_022119 VAR_022119 disease not phenotype-associated VAR_022120 commonName VAR_022120 VAR_022120 disease not phenotype-associated VAR_022121 commonName VAR_022121 VAR_022121 disease not phenotype-associated VAR_022122 commonName VAR_022122 VAR_022122 disease not phenotype-associated VAR_022123 commonName VAR_022123 VAR_022123 disease not phenotype-associated VAR_022124 commonName VAR_022124 VAR_022124 disease not phenotype-associated VAR_022125 commonName VAR_022125 VAR_022125 disease not phenotype-associated VAR_022126 commonName VAR_022126 VAR_022126 disease not phenotype-associated VAR_022130 commonName VAR_022130 VAR_022130 disease not phenotype-associated VAR_022133 commonName VAR_022133 VAR_022133 disease not phenotype-associated VAR_022134 commonName VAR_022134 VAR_022134 disease not phenotype-associated VAR_022135 commonName VAR_022135 VAR_022135 disease not phenotype-associated VAR_022136 commonName VAR_022136 VAR_022136 disease not phenotype-associated VAR_022137 commonName VAR_022137 VAR_022137 disease not phenotype-associated VAR_022138 commonName VAR_022138 VAR_022138 disease not phenotype-associated VAR_022139 commonName VAR_022139 VAR_022139 disease not phenotype-associated VAR_022140 commonName VAR_022140 VAR_022140 disease not phenotype-associated VAR_022141 commonName VAR_022141 VAR_022141 disease not phenotype-associated VAR_022143 commonName VAR_022143 VAR_022143 disease not phenotype-associated VAR_022144 commonName VAR_022144 VAR_022144 disease not phenotype-associated VAR_022146 commonName VAR_022146 VAR_022146 disease not phenotype-associated VAR_022147 commonName VAR_022147 VAR_022147 disease not phenotype-associated VAR_022148 commonName VAR_022148 VAR_022148 disease not phenotype-associated VAR_022149 commonName VAR_022149 VAR_022149 disease not phenotype-associated VAR_022150 commonName VAR_022150 VAR_022150 disease not phenotype-associated VAR_022152 commonName VAR_022152 VAR_022152 disease not phenotype-associated VAR_022153 commonName VAR_022153 VAR_022153 disease not phenotype-associated VAR_022154 commonName VAR_022154 VAR_022154 disease not phenotype-associated VAR_022155 commonName VAR_022155 VAR_022155 disease not phenotype-associated VAR_022156 commonName VAR_022156 VAR_022156 disease not phenotype-associated VAR_022157 commonName VAR_022157 VAR_022157 disease not phenotype-associated VAR_022158 commonName VAR_022158 VAR_022158 disease not phenotype-associated VAR_022159 commonName VAR_022159 VAR_022159 disease not phenotype-associated VAR_022160 commonName VAR_022160 VAR_022160 disease not phenotype-associated VAR_022161 commonName VAR_022161 VAR_022161 disease not phenotype-associated VAR_022162 commonName VAR_022162 VAR_022162 disease not phenotype-associated VAR_022163 commonName VAR_022163 VAR_022163 disease not phenotype-associated VAR_022164 commonName VAR_022164 VAR_022164 disease phenotype-associated VAR_022164 phenoCommon Bruck syndrome type 2 (BRKS2) [MIM:609220] VAR_022165 commonName VAR_022165 VAR_022165 disease phenotype-associated VAR_022165 phenoCommon Bruck syndrome type 2 (BRKS2) [MIM:609220] VAR_022166 commonName VAR_022166 VAR_022166 disease phenotype-associated VAR_022166 phenoCommon Bruck syndrome type 2 (BRKS2) [MIM:609220] VAR_022167 commonName VAR_022167 VAR_022167 disease not phenotype-associated VAR_022168 commonName VAR_022168 VAR_022168 disease not phenotype-associated VAR_022169 commonName VAR_022169 VAR_022169 disease not phenotype-associated VAR_022170 commonName VAR_022170 VAR_022170 disease not phenotype-associated VAR_022171 commonName VAR_022171 VAR_022171 disease not phenotype-associated VAR_022172 commonName VAR_022172 VAR_022172 disease not phenotype-associated VAR_022173 commonName VAR_022173 VAR_022173 disease not phenotype-associated VAR_022174 commonName VAR_022174 VAR_022174 disease not phenotype-associated VAR_022175 commonName VAR_022175 VAR_022175 disease not phenotype-associated VAR_022176 commonName VAR_022176 VAR_022176 disease not phenotype-associated VAR_022177 commonName VAR_022177 VAR_022177 disease not phenotype-associated VAR_022178 commonName VAR_022178 VAR_022178 disease not phenotype-associated VAR_022179 commonName VAR_022179 VAR_022179 disease not phenotype-associated VAR_022180 commonName VAR_022180 VAR_022180 disease not phenotype-associated VAR_022181 commonName VAR_022181 VAR_022181 disease not phenotype-associated VAR_022182 commonName VAR_022182 VAR_022182 disease not phenotype-associated VAR_022183 commonName VAR_022183 VAR_022183 disease not phenotype-associated VAR_022184 commonName VAR_022184 VAR_022184 disease not phenotype-associated VAR_022185 commonName VAR_022185 VAR_022185 disease not phenotype-associated VAR_022187 commonName VAR_022187 VAR_022187 disease not phenotype-associated VAR_022188 commonName VAR_022188 VAR_022188 disease not phenotype-associated VAR_022189 commonName VAR_022189 VAR_022189 disease not phenotype-associated VAR_022190 commonName VAR_022190 VAR_022190 disease not phenotype-associated VAR_022191 commonName VAR_022191 VAR_022191 disease not phenotype-associated VAR_022192 commonName VAR_022192 VAR_022192 disease not phenotype-associated VAR_022193 commonName VAR_022193 VAR_022193 disease not phenotype-associated VAR_022194 commonName VAR_022194 VAR_022194 disease not phenotype-associated VAR_022195 commonName VAR_022195 VAR_022195 disease not phenotype-associated VAR_022196 commonName VAR_022196 VAR_022196 disease not phenotype-associated VAR_022197 commonName VAR_022197 VAR_022197 disease not phenotype-associated VAR_022198 commonName VAR_022198 VAR_022198 disease not phenotype-associated VAR_022199 commonName VAR_022199 VAR_022199 disease not phenotype-associated VAR_022200 commonName VAR_022200 VAR_022200 disease not phenotype-associated VAR_022201 commonName VAR_022201 VAR_022201 disease not phenotype-associated VAR_022202 commonName VAR_022202 VAR_022202 disease not phenotype-associated VAR_022203 commonName VAR_022203 VAR_022203 disease not phenotype-associated VAR_022204 commonName VAR_022204 VAR_022204 disease not phenotype-associated VAR_022205 commonName VAR_022205 VAR_022205 disease not phenotype-associated VAR_022206 commonName VAR_022206 VAR_022206 disease not phenotype-associated VAR_022207 commonName VAR_022207 VAR_022207 disease not phenotype-associated VAR_022208 commonName VAR_022208 VAR_022208 disease not phenotype-associated VAR_022209 commonName VAR_022209 VAR_022209 disease not phenotype-associated VAR_022210 commonName VAR_022210 VAR_022210 disease not phenotype-associated VAR_022212 commonName VAR_022212 VAR_022212 disease not phenotype-associated VAR_022213 commonName VAR_022213 VAR_022213 disease not phenotype-associated VAR_022214 commonName VAR_022214 VAR_022214 disease not phenotype-associated VAR_022215 commonName VAR_022215 VAR_022215 disease not phenotype-associated VAR_022216 commonName VAR_022216 VAR_022216 disease not phenotype-associated VAR_022217 commonName VAR_022217 VAR_022217 disease not phenotype-associated VAR_022218 commonName VAR_022218 VAR_022218 disease not phenotype-associated VAR_022219 commonName VAR_022219 VAR_022219 disease not phenotype-associated VAR_022220 commonName VAR_022220 VAR_022220 disease not phenotype-associated VAR_022221 commonName VAR_022221 VAR_022221 disease not phenotype-associated VAR_022222 commonName VAR_022222 VAR_022222 disease not phenotype-associated VAR_022223 commonName VAR_022223 VAR_022223 disease not phenotype-associated VAR_022224 commonName VAR_022224 VAR_022224 disease not phenotype-associated VAR_022225 commonName VAR_022225 VAR_022225 disease not phenotype-associated VAR_022226 commonName VAR_022226 VAR_022226 disease not phenotype-associated VAR_022227 commonName VAR_022227 VAR_022227 disease not phenotype-associated VAR_022228 commonName VAR_022228 VAR_022228 disease not phenotype-associated VAR_022229 commonName VAR_022229 VAR_022229 disease not phenotype-associated VAR_022230 commonName VAR_022230 VAR_022230 disease not phenotype-associated VAR_022231 commonName VAR_022231 VAR_022231 disease not phenotype-associated VAR_022232 commonName VAR_022232 VAR_022232 disease not phenotype-associated VAR_022233 commonName VAR_022233 VAR_022233 disease not phenotype-associated VAR_022234 commonName VAR_022234 VAR_022234 disease not phenotype-associated VAR_022235 commonName VAR_022235 VAR_022235 disease not phenotype-associated VAR_022236 commonName VAR_022236 VAR_022236 disease not phenotype-associated VAR_022237 commonName VAR_022237 VAR_022237 disease not phenotype-associated VAR_022238 commonName VAR_022238 VAR_022238 disease not phenotype-associated VAR_022239 commonName VAR_022239 VAR_022239 disease not phenotype-associated VAR_022240 commonName VAR_022240 VAR_022240 disease not phenotype-associated VAR_022241 commonName VAR_022241 VAR_022241 disease not phenotype-associated VAR_022242 commonName VAR_022242 VAR_022242 disease not phenotype-associated VAR_022243 commonName VAR_022243 VAR_022243 disease not phenotype-associated VAR_022244 commonName VAR_022244 VAR_022244 disease not phenotype-associated VAR_022245 commonName VAR_022245 VAR_022245 disease not phenotype-associated VAR_022246 commonName VAR_022246 VAR_022246 disease not phenotype-associated VAR_022247 commonName VAR_022247 VAR_022247 disease not phenotype-associated VAR_022248 commonName VAR_022248 VAR_022248 disease not phenotype-associated VAR_022249 commonName VAR_022249 VAR_022249 disease not phenotype-associated VAR_022250 commonName VAR_022250 VAR_022250 disease not phenotype-associated VAR_022251 commonName VAR_022251 VAR_022251 disease not phenotype-associated VAR_022252 commonName VAR_022252 VAR_022252 disease not phenotype-associated VAR_022254 commonName VAR_022254 VAR_022254 disease not phenotype-associated VAR_022255 commonName VAR_022255 VAR_022255 disease not phenotype-associated VAR_022256 commonName VAR_022256 VAR_022256 disease not phenotype-associated VAR_022257 commonName VAR_022257 VAR_022257 disease not phenotype-associated VAR_022258 commonName VAR_022258 VAR_022258 disease not phenotype-associated VAR_022259 commonName VAR_022259 VAR_022259 disease not phenotype-associated VAR_022260 commonName VAR_022260 VAR_022260 disease not phenotype-associated VAR_022261 commonName VAR_022261 VAR_022261 disease not phenotype-associated VAR_022262 commonName VAR_022262 VAR_022262 disease not phenotype-associated VAR_022263 commonName VAR_022263 VAR_022263 disease not phenotype-associated VAR_022264 commonName VAR_022264 VAR_022264 disease not phenotype-associated VAR_022265 commonName VAR_022265 VAR_022265 disease not phenotype-associated VAR_022266 commonName VAR_022266 VAR_022266 disease not phenotype-associated VAR_022267 commonName VAR_022267 VAR_022267 disease not phenotype-associated VAR_022268 commonName VAR_022268 VAR_022268 disease not phenotype-associated VAR_022269 commonName VAR_022269 VAR_022269 disease not phenotype-associated VAR_022270 commonName VAR_022270 VAR_022270 disease not phenotype-associated VAR_022271 commonName VAR_022271 VAR_022271 disease not phenotype-associated VAR_022272 commonName VAR_022272 VAR_022272 disease not phenotype-associated VAR_022273 commonName VAR_022273 VAR_022273 disease not phenotype-associated VAR_022274 commonName VAR_022274 VAR_022274 disease not phenotype-associated VAR_022275 commonName VAR_022275 VAR_022275 disease not phenotype-associated VAR_022276 commonName VAR_022276 VAR_022276 disease not phenotype-associated VAR_022277 commonName VAR_022277 VAR_022277 disease not phenotype-associated VAR_022278 commonName VAR_022278 VAR_022278 disease not phenotype-associated VAR_022279 commonName VAR_022279 VAR_022279 disease not phenotype-associated VAR_022280 commonName VAR_022280 VAR_022280 disease not phenotype-associated VAR_022281 commonName VAR_022281 VAR_022281 disease not phenotype-associated VAR_022282 commonName VAR_022282 VAR_022282 disease not phenotype-associated VAR_022283 commonName VAR_022283 VAR_022283 disease not phenotype-associated VAR_022284 commonName VAR_022284 VAR_022284 disease not phenotype-associated VAR_022285 commonName VAR_022285 VAR_022285 disease not phenotype-associated VAR_022286 commonName VAR_022286 VAR_022286 disease not phenotype-associated VAR_022287 commonName VAR_022287 VAR_022287 disease not phenotype-associated VAR_022288 commonName VAR_022288 VAR_022288 disease not phenotype-associated VAR_022289 commonName VAR_022289 VAR_022289 disease not phenotype-associated VAR_022290 commonName VAR_022290 VAR_022290 disease not phenotype-associated VAR_022291 commonName VAR_022291 VAR_022291 disease not phenotype-associated VAR_022292 commonName VAR_022292 VAR_022292 disease not phenotype-associated VAR_022293 commonName VAR_022293 VAR_022293 disease not phenotype-associated VAR_022294 commonName VAR_022294 VAR_022294 disease not phenotype-associated VAR_022295 commonName VAR_022295 VAR_022295 disease not phenotype-associated VAR_022296 commonName VAR_022296 VAR_022296 disease not phenotype-associated VAR_022297 commonName VAR_022297 VAR_022297 disease not phenotype-associated VAR_022298 commonName VAR_022298 VAR_022298 disease not phenotype-associated VAR_022299 commonName VAR_022299 VAR_022299 disease not phenotype-associated VAR_022300 commonName VAR_022300 VAR_022300 disease not phenotype-associated VAR_022302 commonName VAR_022302 VAR_022302 disease not phenotype-associated VAR_022303 commonName VAR_022303 VAR_022303 disease not phenotype-associated VAR_022304 commonName VAR_022304 VAR_022304 disease not phenotype-associated VAR_022305 commonName VAR_022305 VAR_022305 disease not phenotype-associated VAR_022306 commonName VAR_022306 VAR_022306 disease not phenotype-associated VAR_022307 commonName VAR_022307 VAR_022307 disease not phenotype-associated VAR_022308 commonName VAR_022308 VAR_022308 disease not phenotype-associated VAR_022309 commonName VAR_022309 VAR_022309 disease not phenotype-associated VAR_022310 commonName VAR_022310 VAR_022310 disease not phenotype-associated VAR_022311 commonName VAR_022311 VAR_022311 disease not phenotype-associated VAR_022312 commonName VAR_022312 VAR_022312 disease not phenotype-associated VAR_022313 commonName VAR_022313 VAR_022313 disease not phenotype-associated VAR_022314 commonName VAR_022314 VAR_022314 disease not phenotype-associated VAR_022315 commonName VAR_022315 VAR_022315 disease not phenotype-associated VAR_022316 comment A sporadic cancer VAR_022316 commonName VAR_022316 VAR_022318 commonName VAR_022318 VAR_022318 disease not phenotype-associated VAR_022319 commonName VAR_022319 VAR_022319 disease not phenotype-associated VAR_022320 commonName VAR_022320 VAR_022320 disease not phenotype-associated VAR_022321 commonName VAR_022321 VAR_022321 disease phenotype-associated VAR_022321 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] VAR_022322 commonName VAR_022322 VAR_022322 disease phenotype-associated VAR_022322 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] VAR_022323 commonName VAR_022323 VAR_022323 disease phenotype-associated VAR_022323 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] VAR_022324 commonName VAR_022324 VAR_022324 disease phenotype-associated VAR_022324 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] VAR_022325 commonName VAR_022325 VAR_022325 disease phenotype-associated VAR_022325 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] VAR_022326 commonName VAR_022326 VAR_022326 disease phenotype-associated VAR_022326 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] VAR_022327 commonName VAR_022327 VAR_022327 disease phenotype-associated VAR_022327 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] VAR_022328 commonName VAR_022328 VAR_022328 disease phenotype-associated VAR_022328 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] VAR_022329 commonName VAR_022329 VAR_022329 disease phenotype-associated VAR_022329 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] VAR_022330 commonName VAR_022330 VAR_022330 disease phenotype-associated VAR_022330 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] VAR_022331 commonName VAR_022331 VAR_022331 disease phenotype-associated VAR_022331 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] VAR_022333 commonName VAR_022333 VAR_022333 disease phenotype-associated VAR_022333 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] VAR_022334 commonName VAR_022334 VAR_022334 disease phenotype-associated VAR_022334 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] VAR_022335 commonName VAR_022335 VAR_022335 disease phenotype-associated VAR_022335 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] VAR_022336 commonName VAR_022336 VAR_022336 disease phenotype-associated VAR_022336 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] VAR_022337 commonName VAR_022337 VAR_022337 disease phenotype-associated VAR_022337 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] VAR_022341 commonName VAR_022341 VAR_022341 disease phenotype-associated VAR_022341 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] VAR_022344 commonName VAR_022344 VAR_022344 disease phenotype-associated VAR_022344 phenoCommon Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192] VAR_022345 commonName VAR_022345 VAR_022345 disease phenotype-associated VAR_022345 phenoCommon Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192] VAR_022346 commonName VAR_022346 VAR_022346 disease phenotype-associated VAR_022346 phenoCommon Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192] VAR_022363 commonName VAR_022363 VAR_022363 disease not phenotype-associated VAR_022364 commonName VAR_022364 VAR_022364 disease not phenotype-associated VAR_022365 commonName VAR_022365 VAR_022365 disease not phenotype-associated VAR_022366 commonName VAR_022366 VAR_022366 disease not phenotype-associated VAR_022367 commonName VAR_022367 VAR_022367 disease not phenotype-associated VAR_022368 commonName VAR_022368 VAR_022368 disease not phenotype-associated VAR_022369 commonName VAR_022369 VAR_022369 disease phenotype-associated VAR_022369 phenoCommon Myopathy distal type 1 (MPD1) [MIM:160500] VAR_022370 commonName VAR_022370 VAR_022370 disease phenotype-associated VAR_022370 phenoCommon Myopathy distal type 1 (MPD1) [MIM:160500] VAR_022371 commonName VAR_022371 VAR_022371 disease phenotype-associated VAR_022371 phenoCommon Myopathy distal type 1 (MPD1) [MIM:160500] VAR_022372 commonName VAR_022372 VAR_022372 disease not phenotype-associated VAR_022373 commonName VAR_022373 VAR_022373 disease not phenotype-associated VAR_022374 commonName VAR_022374 VAR_022374 disease not phenotype-associated VAR_022375 commonName VAR_022375 VAR_022375 disease phenotype-associated VAR_022375 phenoCommon Spastic paraplegia type 17 (SPG17) [MIM:270685] VAR_022376 commonName VAR_022376 VAR_022376 disease phenotype-associated VAR_022376 phenoCommon Spastic paraplegia type 17 (SPG17) [MIM:270685] VAR_022377 commonName VAR_022377 VAR_022377 disease phenotype-associated VAR_022377 phenoCommon Congenital generalized lipodystrophy type 2 (CGL2) [MIM:269700] VAR_022378 commonName VAR_022378 VAR_022378 disease phenotype-associated VAR_022378 phenoCommon Phosphoserine phosphatase deficiency (PSPHD) [MIM:614023] VAR_022379 commonName VAR_022379 VAR_022379 disease phenotype-associated VAR_022379 phenoCommon Phosphoserine phosphatase deficiency (PSPHD) [MIM:614023] VAR_022380 commonName VAR_022380 VAR_022380 disease not phenotype-associated VAR_022381 commonName VAR_022381 VAR_022381 disease not phenotype-associated VAR_022382 commonName VAR_022382 VAR_022382 disease not phenotype-associated VAR_022383 commonName VAR_022383 VAR_022383 disease not phenotype-associated VAR_022384 commonName VAR_022384 VAR_022384 disease not phenotype-associated VAR_022385 commonName VAR_022385 VAR_022385 disease not phenotype-associated VAR_022386 commonName VAR_022386 VAR_022386 disease not phenotype-associated VAR_022387 commonName VAR_022387 VAR_022387 disease not phenotype-associated VAR_022388 commonName VAR_022388 VAR_022388 disease phenotype-associated VAR_022388 phenoCommon Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460] VAR_022389 commonName VAR_022389 VAR_022389 disease phenotype-associated VAR_022389 phenoCommon Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460] VAR_022390 commonName VAR_022390 VAR_022390 disease phenotype-associated VAR_022390 phenoCommon Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460] VAR_022391 commonName VAR_022391 VAR_022391 disease phenotype-associated VAR_022391 phenoCommon Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460] VAR_022392 commonName VAR_022392 VAR_022392 disease phenotype-associated VAR_022392 phenoCommon Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460] VAR_022393 commonName VAR_022393 VAR_022393 disease phenotype-associated VAR_022393 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_022394 commonName VAR_022394 VAR_022394 disease phenotype-associated VAR_022394 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_022395 commonName VAR_022395 VAR_022395 disease phenotype-associated VAR_022395 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_022396 commonName VAR_022396 VAR_022396 disease phenotype-associated VAR_022396 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_022397 commonName VAR_022397 VAR_022397 disease phenotype-associated VAR_022397 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_022398 commonName VAR_022398 VAR_022398 disease phenotype-associated VAR_022398 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_022399 commonName VAR_022399 VAR_022399 disease phenotype-associated VAR_022399 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_022400 commonName VAR_022400 VAR_022400 disease phenotype-associated VAR_022400 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_022401 commonName VAR_022401 VAR_022401 disease phenotype-associated VAR_022401 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_022402 commonName VAR_022402 VAR_022402 disease phenotype-associated VAR_022402 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_022403 commonName VAR_022403 VAR_022403 disease phenotype-associated VAR_022403 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_022404 commonName VAR_022404 VAR_022404 disease phenotype-associated VAR_022404 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_022405 commonName VAR_022405 VAR_022405 disease phenotype-associated VAR_022405 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_022406 commonName VAR_022406 VAR_022406 disease phenotype-associated VAR_022406 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_022407 commonName VAR_022407 VAR_022407 disease not phenotype-associated VAR_022408 commonName VAR_022408 VAR_022408 disease phenotype-associated VAR_022408 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_022409 commonName VAR_022409 VAR_022409 disease phenotype-associated VAR_022409 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_022410 commonName VAR_022410 VAR_022410 disease phenotype-associated VAR_022410 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_022411 commonName VAR_022411 VAR_022411 disease phenotype-associated VAR_022411 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_022412 commonName VAR_022412 VAR_022412 disease phenotype-associated VAR_022412 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_022413 commonName VAR_022413 VAR_022413 disease phenotype-associated VAR_022413 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_022414 commonName VAR_022414 VAR_022414 disease phenotype-associated VAR_022414 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_022415 commonName VAR_022415 VAR_022415 disease phenotype-associated VAR_022415 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_022416 commonName VAR_022416 VAR_022416 disease phenotype-associated VAR_022416 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_022417 commonName VAR_022417 VAR_022417 disease phenotype-associated VAR_022417 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_022418 commonName VAR_022418 VAR_022418 disease phenotype-associated VAR_022418 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_022419 commonName VAR_022419 VAR_022419 disease phenotype-associated VAR_022419 phenoCommon Hereditary susceptibility to Wilms tumor 5 (WT5) [MIM:601583] VAR_022423 commonName VAR_022423 VAR_022423 disease not phenotype-associated VAR_022424 commonName VAR_022424 VAR_022424 disease not phenotype-associated VAR_022425 commonName VAR_022425 VAR_022425 disease not phenotype-associated VAR_022426 commonName VAR_022426 VAR_022426 disease not phenotype-associated VAR_022427 commonName VAR_022427 VAR_022427 disease not phenotype-associated VAR_022428 commonName VAR_022428 VAR_022428 disease not phenotype-associated VAR_022429 commonName VAR_022429 VAR_022429 disease phenotype-associated VAR_022429 phenoCommon Glycogen storage disease type 4 (GSD4) [MIM:232500] VAR_022430 commonName VAR_022430 VAR_022430 disease phenotype-associated VAR_022430 phenoCommon Glycogen storage disease type 4 (GSD4) [MIM:232500] VAR_022431 commonName VAR_022431 VAR_022431 disease phenotype-associated VAR_022431 phenoCommon Glycogen storage disease type 4 (GSD4) [MIM:232500] VAR_022432 commonName VAR_022432 VAR_022432 disease phenotype-associated VAR_022432 phenoCommon Glycogen storage disease type 4 (GSD4) [MIM:232500] VAR_022433 commonName VAR_022433 VAR_022433 disease phenotype-associated VAR_022433 phenoCommon Adult polyglucosan body disease (APBD) [MIM:263570] VAR_022434 commonName VAR_022434 VAR_022434 disease phenotype-associated VAR_022434 phenoCommon Adult polyglucosan body disease (APBD) [MIM:263570] VAR_022434 phenoCommon Glycogen storage disease type 4 (GSD4) [MIM:232500] VAR_022435 commonName VAR_022435 VAR_022435 disease phenotype-associated VAR_022435 phenoCommon Glycogen storage disease type 4 (GSD4) [MIM:232500] VAR_022436 commonName VAR_022436 VAR_022436 disease phenotype-associated VAR_022436 phenoCommon Glycogen storage disease type 4 (GSD4) [MIM:232500] VAR_022437 commonName VAR_022437 VAR_022437 disease not phenotype-associated VAR_022439 commonName VAR_022439 VAR_022439 disease phenotype-associated VAR_022439 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] VAR_022440 commonName VAR_022440 VAR_022440 disease phenotype-associated VAR_022440 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] VAR_022441 commonName VAR_022441 VAR_022441 disease phenotype-associated VAR_022441 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] VAR_022442 commonName VAR_022442 VAR_022442 disease phenotype-associated VAR_022442 phenoCommon GM2-gangliosidosis type 1 (GM2G1) [MIM:272800] VAR_022443 commonName VAR_022443 VAR_022443 disease not phenotype-associated VAR_022444 commonName VAR_022444 VAR_022444 disease not phenotype-associated VAR_022445 commonName VAR_022445 VAR_022445 disease not phenotype-associated VAR_022446 commonName VAR_022446 VAR_022446 disease not phenotype-associated VAR_022447 commonName VAR_022447 VAR_022447 disease not phenotype-associated VAR_022448 commonName VAR_022448 VAR_022448 disease not phenotype-associated VAR_022449 commonName VAR_022449 VAR_022449 disease not phenotype-associated VAR_022450 commonName VAR_022450 VAR_022450 disease not phenotype-associated VAR_022451 commonName VAR_022451 VAR_022451 disease not phenotype-associated VAR_022452 commonName VAR_022452 VAR_022452 disease not phenotype-associated VAR_022453 commonName VAR_022453 VAR_022453 disease not phenotype-associated VAR_022454 commonName VAR_022454 VAR_022454 disease not phenotype-associated VAR_022455 commonName VAR_022455 VAR_022455 disease not phenotype-associated VAR_022456 commonName VAR_022456 VAR_022456 disease not phenotype-associated VAR_022457 commonName VAR_022457 VAR_022457 disease not phenotype-associated VAR_022458 commonName VAR_022458 VAR_022458 disease not phenotype-associated VAR_022459 commonName VAR_022459 VAR_022459 disease phenotype-associated VAR_022459 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 2 (PEOA2) [MIM:609283] VAR_022460 commonName VAR_022460 VAR_022460 disease phenotype-associated VAR_022460 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 2 (PEOA2) [MIM:609283] VAR_022461 commonName VAR_022461 VAR_022461 disease not phenotype-associated VAR_022462 commonName VAR_022462 VAR_022464 commonName VAR_022464 VAR_022464 disease phenotype-associated VAR_022464 phenoCommon Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260] VAR_022465 commonName VAR_022465 VAR_022465 disease not phenotype-associated VAR_022466 commonName VAR_022466 VAR_022466 disease not phenotype-associated VAR_022467 commonName VAR_022467 VAR_022467 disease not phenotype-associated VAR_022468 commonName VAR_022468 VAR_022468 disease not phenotype-associated VAR_022469 commonName VAR_022469 VAR_022469 disease phenotype-associated VAR_022469 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022470 commonName VAR_022470 VAR_022470 disease phenotype-associated VAR_022470 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022471 commonName VAR_022471 VAR_022471 disease phenotype-associated VAR_022471 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022472 commonName VAR_022472 VAR_022472 disease phenotype-associated VAR_022472 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022473 commonName VAR_022473 VAR_022473 disease phenotype-associated VAR_022473 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022474 commonName VAR_022474 VAR_022474 disease phenotype-associated VAR_022474 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022475 commonName VAR_022475 VAR_022475 disease not phenotype-associated VAR_022476 commonName VAR_022476 VAR_022476 disease phenotype-associated VAR_022476 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022477 commonName VAR_022477 VAR_022477 disease phenotype-associated VAR_022477 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022478 commonName VAR_022478 VAR_022478 disease phenotype-associated VAR_022478 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022479 commonName VAR_022479 VAR_022479 disease phenotype-associated VAR_022479 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022480 commonName VAR_022480 VAR_022480 disease phenotype-associated VAR_022480 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022481 commonName VAR_022481 VAR_022481 disease phenotype-associated VAR_022481 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022482 commonName VAR_022482 VAR_022482 disease phenotype-associated VAR_022482 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022483 commonName VAR_022483 VAR_022483 disease phenotype-associated VAR_022483 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022484 commonName VAR_022484 VAR_022484 disease phenotype-associated VAR_022484 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022485 commonName VAR_022485 VAR_022485 disease phenotype-associated VAR_022485 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022486 commonName VAR_022486 VAR_022486 disease phenotype-associated VAR_022486 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022487 commonName VAR_022487 VAR_022487 disease phenotype-associated VAR_022487 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022488 commonName VAR_022488 VAR_022488 disease phenotype-associated VAR_022488 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022489 commonName VAR_022489 VAR_022489 disease phenotype-associated VAR_022489 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022490 commonName VAR_022490 VAR_022490 disease phenotype-associated VAR_022490 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022491 commonName VAR_022491 VAR_022491 disease phenotype-associated VAR_022491 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022492 commonName VAR_022492 VAR_022492 disease phenotype-associated VAR_022492 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022493 commonName VAR_022493 VAR_022493 disease phenotype-associated VAR_022493 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022494 commonName VAR_022494 VAR_022494 disease phenotype-associated VAR_022494 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022495 commonName VAR_022495 VAR_022495 disease phenotype-associated VAR_022495 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022496 commonName VAR_022496 VAR_022496 disease phenotype-associated VAR_022496 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022497 commonName VAR_022497 VAR_022497 disease phenotype-associated VAR_022497 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022498 commonName VAR_022498 VAR_022498 disease phenotype-associated VAR_022498 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022499 commonName VAR_022499 VAR_022499 disease phenotype-associated VAR_022499 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022500 commonName VAR_022500 VAR_022500 disease phenotype-associated VAR_022500 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022501 commonName VAR_022501 VAR_022501 disease phenotype-associated VAR_022501 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022502 commonName VAR_022502 VAR_022502 disease phenotype-associated VAR_022502 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022503 commonName VAR_022503 VAR_022503 disease phenotype-associated VAR_022503 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022504 commonName VAR_022504 VAR_022504 disease phenotype-associated VAR_022504 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022505 commonName VAR_022505 VAR_022505 disease phenotype-associated VAR_022505 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022506 commonName VAR_022506 VAR_022506 disease phenotype-associated VAR_022506 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022507 commonName VAR_022507 VAR_022507 disease phenotype-associated VAR_022507 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022508 commonName VAR_022508 VAR_022508 disease phenotype-associated VAR_022508 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022509 commonName VAR_022509 VAR_022509 disease phenotype-associated VAR_022509 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022510 commonName VAR_022510 VAR_022510 disease phenotype-associated VAR_022510 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022511 commonName VAR_022511 VAR_022511 disease phenotype-associated VAR_022511 phenoCommon Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147] VAR_022512 commonName VAR_022512 VAR_022512 disease phenotype-associated VAR_022512 phenoCommon Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147] VAR_022513 commonName VAR_022513 VAR_022513 disease phenotype-associated VAR_022513 phenoCommon Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147] VAR_022514 commonName VAR_022514 VAR_022514 disease phenotype-associated VAR_022514 phenoCommon Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147] VAR_022516 commonName VAR_022516 VAR_022516 disease phenotype-associated VAR_022516 phenoCommon Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579] VAR_022517 commonName VAR_022517 VAR_022517 disease phenotype-associated VAR_022517 phenoCommon Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579] VAR_022518 commonName VAR_022518 VAR_022518 disease phenotype-associated VAR_022518 phenoCommon Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579] VAR_022519 commonName VAR_022519 VAR_022519 disease phenotype-associated VAR_022519 phenoCommon Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579] VAR_022520 commonName VAR_022520 VAR_022520 disease phenotype-associated VAR_022520 phenoCommon Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579] VAR_022521 commonName VAR_022521 VAR_022521 disease phenotype-associated VAR_022521 phenoCommon Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579] VAR_022522 commonName VAR_022522 VAR_022522 disease phenotype-associated VAR_022522 phenoCommon Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579] VAR_022525 commonName VAR_022525 VAR_022525 disease phenotype-associated VAR_022525 phenoCommon Kanzaki disease (KANZD) [MIM:609242] VAR_022526 commonName VAR_022526 VAR_022526 disease phenotype-associated VAR_022526 phenoCommon Senior-Loken syndrome type 4 (SLSN4) [MIM:606996] VAR_022527 commonName VAR_022527 VAR_022527 disease not phenotype-associated VAR_022528 commonName VAR_022528 VAR_022528 disease phenotype-associated VAR_022528 phenoCommon Senior-Loken syndrome type 4 (SLSN4) [MIM:606996] VAR_022529 commonName VAR_022529 VAR_022529 disease phenotype-associated VAR_022529 phenoCommon Nephronophthisis type 4 (NPHP4) [MIM:606966] VAR_022530 commonName VAR_022530 VAR_022530 disease phenotype-associated VAR_022530 phenoCommon Nephronophthisis type 4 (NPHP4) [MIM:606966] VAR_022531 commonName VAR_022531 VAR_022531 disease not phenotype-associated VAR_022532 commonName VAR_022532 VAR_022532 disease not phenotype-associated VAR_022533 commonName VAR_022533 VAR_022533 disease phenotype-associated VAR_022533 phenoCommon Senior-Loken syndrome type 4 (SLSN4) [MIM:606996] VAR_022534 commonName VAR_022534 VAR_022534 disease phenotype-associated VAR_022534 phenoCommon Nephronophthisis type 4 (NPHP4) [MIM:606966] VAR_022535 commonName VAR_022535 VAR_022535 disease phenotype-associated VAR_022535 phenoCommon Nephronophthisis type 4 (NPHP4) [MIM:606966] VAR_022536 commonName VAR_022536 VAR_022536 disease not phenotype-associated VAR_022537 commonName VAR_022537 VAR_022537 disease not phenotype-associated VAR_022538 commonName VAR_022538 VAR_022538 disease phenotype-associated VAR_022538 phenoCommon Nephronophthisis type 4 (NPHP4) [MIM:606966] VAR_022539 commonName VAR_022539 VAR_022539 disease phenotype-associated VAR_022539 phenoCommon Nephronophthisis type 4 (NPHP4) [MIM:606966] VAR_022540 commonName VAR_022540 VAR_022540 disease phenotype-associated VAR_022540 phenoCommon Nephronophthisis type 4 (NPHP4) [MIM:606966] VAR_022542 commonName VAR_022542 VAR_022542 disease phenotype-associated VAR_022542 phenoCommon Senior-Loken syndrome type 4 (SLSN4) [MIM:606996] VAR_022543 commonName VAR_022543 VAR_022543 disease phenotype-associated VAR_022543 phenoCommon Nephronophthisis type 4 (NPHP4) [MIM:606966] VAR_022544 commonName VAR_022544 VAR_022544 disease phenotype-associated VAR_022544 phenoCommon Nephronophthisis type 4 (NPHP4) [MIM:606966] VAR_022545 commonName VAR_022545 VAR_022545 disease phenotype-associated VAR_022545 phenoCommon Nephronophthisis type 4 (NPHP4) [MIM:606966] VAR_022546 commonName VAR_022546 VAR_022546 disease phenotype-associated VAR_022546 phenoCommon Senior-Loken syndrome type 4 (SLSN4) [MIM:606996] VAR_022547 commonName VAR_022547 VAR_022547 disease phenotype-associated VAR_022547 phenoCommon Nephronophthisis type 4 (NPHP4) [MIM:606966] VAR_022548 commonName VAR_022548 VAR_022548 disease phenotype-associated VAR_022548 phenoCommon Nephronophthisis type 4 (NPHP4) [MIM:606966] VAR_022549 commonName VAR_022549 VAR_022549 disease not phenotype-associated VAR_022550 commonName VAR_022550 VAR_022550 disease not phenotype-associated VAR_022551 commonName VAR_022551 VAR_022551 disease not phenotype-associated VAR_022552 commonName VAR_022552 VAR_022552 disease not phenotype-associated VAR_022553 commonName VAR_022553 VAR_022553 disease not phenotype-associated VAR_022554 commonName VAR_022554 VAR_022554 disease not phenotype-associated VAR_022555 commonName VAR_022555 VAR_022555 disease not phenotype-associated VAR_022556 commonName VAR_022556 VAR_022556 disease not phenotype-associated VAR_022557 commonName VAR_022557 VAR_022557 disease not phenotype-associated VAR_022558 commonName VAR_022558 VAR_022558 disease not phenotype-associated VAR_022559 commonName VAR_022559 VAR_022559 disease phenotype-associated VAR_022559 phenoCommon Fanconi anemia complementation group D type 2 (FANCD2) [MIM:227646] VAR_022560 commonName VAR_022560 VAR_022560 disease phenotype-associated VAR_022560 phenoCommon Fanconi anemia complementation group D type 2 (FANCD2) [MIM:227646] VAR_022561 commonName VAR_022561 VAR_022561 disease not phenotype-associated VAR_022562 commonName VAR_022562 VAR_022562 disease phenotype-associated VAR_022562 phenoCommon Fanconi anemia complementation group D type 2 (FANCD2) [MIM:227646] VAR_022563 commonName VAR_022563 VAR_022563 disease phenotype-associated VAR_022563 phenoCommon Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065] VAR_022564 commonName VAR_022564 VAR_022564 disease phenotype-associated VAR_022564 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_022565 commonName VAR_022565 VAR_022565 disease phenotype-associated VAR_022565 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_022566 commonName VAR_022566 VAR_022566 disease phenotype-associated VAR_022566 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_022567 commonName VAR_022567 VAR_022567 disease phenotype-associated VAR_022567 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100] VAR_022568 commonName VAR_022568 VAR_022568 disease phenotype-associated VAR_022568 phenoCommon Hepatoerythropoietic porphyria (HEP) [MIM:176100] VAR_022569 commonName VAR_022569 VAR_022569 disease phenotype-associated VAR_022569 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100] VAR_022570 commonName VAR_022570 VAR_022570 disease phenotype-associated VAR_022570 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100] VAR_022571 commonName VAR_022571 VAR_022571 disease phenotype-associated VAR_022571 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100] VAR_022572 commonName VAR_022572 VAR_022572 disease phenotype-associated VAR_022572 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100] VAR_022573 commonName VAR_022573 VAR_022573 disease phenotype-associated VAR_022573 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100] VAR_022574 commonName VAR_022574 VAR_022574 disease phenotype-associated VAR_022574 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100] VAR_022575 commonName VAR_022575 VAR_022575 disease phenotype-associated VAR_022575 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100] VAR_022576 commonName VAR_022576 VAR_022576 disease phenotype-associated VAR_022576 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100] VAR_022577 commonName VAR_022577 VAR_022577 disease phenotype-associated VAR_022577 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100] VAR_022578 commonName VAR_022578 VAR_022578 disease phenotype-associated VAR_022578 phenoCommon Familial porphyria cutanea tarda (FPCT) [MIM:176100] VAR_022579 commonName VAR_022579 VAR_022579 disease phenotype-associated VAR_022579 phenoCommon Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860] VAR_022580 commonName VAR_022580 VAR_022580 disease phenotype-associated VAR_022580 phenoCommon Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860] VAR_022581 commonName VAR_022581 VAR_022581 disease phenotype-associated VAR_022581 phenoCommon Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860] VAR_022582 commonName VAR_022582 VAR_022582 disease phenotype-associated VAR_022582 phenoCommon Congenital vertical talus (CVT) [MIM:192950] VAR_022583 commonName VAR_022583 VAR_022583 disease phenotype-associated VAR_022583 phenoCommon Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875] VAR_022584 commonName VAR_022584 VAR_022584 disease phenotype-associated VAR_022584 phenoCommon Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875] VAR_022585 commonName VAR_022585 VAR_022585 disease phenotype-associated VAR_022585 phenoCommon Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875] VAR_022586 commonName VAR_022586 VAR_022586 disease phenotype-associated VAR_022586 phenoCommon Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875] VAR_022587 commonName VAR_022587 VAR_022587 disease phenotype-associated VAR_022587 phenoCommon Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875] VAR_022588 commonName VAR_022588 VAR_022588 disease phenotype-associated VAR_022588 phenoCommon Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875] VAR_022589 commonName VAR_022589 VAR_022589 disease phenotype-associated VAR_022589 phenoCommon Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875] VAR_022590 commonName VAR_022590 VAR_022590 disease phenotype-associated VAR_022590 phenoCommon Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875] VAR_022591 commonName VAR_022591 VAR_022591 disease phenotype-associated VAR_022591 phenoCommon Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875] VAR_022592 commonName VAR_022592 VAR_022592 disease phenotype-associated VAR_022592 phenoCommon Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875] VAR_022593 commonName VAR_022593 VAR_022593 disease phenotype-associated VAR_022593 phenoCommon Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875] VAR_022594 commonName VAR_022594 VAR_022594 disease phenotype-associated VAR_022594 phenoCommon Hemochromatosis type 4 (HFE4) [MIM:606069] VAR_022595 commonName VAR_022595 VAR_022595 disease phenotype-associated VAR_022595 phenoCommon Hemochromatosis type 4 (HFE4) [MIM:606069] VAR_022596 commonName VAR_022596 VAR_022596 disease phenotype-associated VAR_022596 phenoCommon Hemochromatosis type 4 (HFE4) [MIM:606069] VAR_022598 commonName VAR_022598 VAR_022598 disease phenotype-associated VAR_022598 phenoCommon Hemochromatosis type 4 (HFE4) [MIM:606069] VAR_022599 commonName VAR_022599 VAR_022599 disease phenotype-associated VAR_022599 phenoCommon Hemochromatosis type 4 (HFE4) [MIM:606069] VAR_022600 commonName VAR_022600 VAR_022600 disease phenotype-associated VAR_022600 phenoCommon Cystinuria type 1 (CSNU1) [MIM:220100] VAR_022601 commonName VAR_022601 VAR_022601 disease phenotype-associated VAR_022601 phenoCommon Cystinuria type 1 (CSNU1) [MIM:220100] VAR_022603 commonName VAR_022603 VAR_022603 disease phenotype-associated VAR_022603 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100] VAR_022604 commonName VAR_022604 VAR_022604 disease phenotype-associated VAR_022604 phenoCommon Non-type I cystinuria (CSNU) [MIM:220100] VAR_022605 commonName VAR_022605 VAR_022605 disease not phenotype-associated VAR_022606 commonName VAR_022606 VAR_022606 disease phenotype-associated VAR_022606 phenoCommon Chondrocalcinosis 2 (CCAL2) [MIM:118600] VAR_022607 commonName VAR_022607 VAR_022607 disease phenotype-associated VAR_022607 phenoCommon Chondrocalcinosis 2 (CCAL2) [MIM:118600] VAR_022608 commonName VAR_022608 VAR_022608 disease phenotype-associated VAR_022608 phenoCommon Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:102600] VAR_022609 commonName VAR_022609 VAR_022609 disease phenotype-associated VAR_022609 phenoCommon Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:102600] VAR_022612 commonName VAR_022612 VAR_022612 disease not phenotype-associated VAR_022614 commonName VAR_022614 VAR_022614 disease not phenotype-associated VAR_022622 commonName VAR_022622 VAR_022622 disease not phenotype-associated VAR_022623 commonName VAR_022623 VAR_022623 disease not phenotype-associated VAR_022624 commonName VAR_022624 VAR_022624 disease not phenotype-associated VAR_022625 commonName VAR_022625 VAR_022625 disease not phenotype-associated VAR_022626 commonName VAR_022626 VAR_022626 disease phenotype-associated VAR_022626 phenoCommon Retinitis pigmentosa type 13 (RP13) [MIM:600059] VAR_022627 commonName VAR_022627 VAR_022627 disease phenotype-associated VAR_022627 phenoCommon Retinitis pigmentosa type 13 (RP13) [MIM:600059] VAR_022628 commonName VAR_022628 VAR_022628 disease phenotype-associated VAR_022628 phenoCommon Retinitis pigmentosa type 13 (RP13) [MIM:600059] VAR_022629 commonName VAR_022629 VAR_022629 disease phenotype-associated VAR_022629 phenoCommon Retinitis pigmentosa type 13 (RP13) [MIM:600059] VAR_022630 commonName VAR_022630 VAR_022630 disease phenotype-associated VAR_022630 phenoCommon Retinitis pigmentosa type 13 (RP13) [MIM:600059] VAR_022631 commonName VAR_022631 VAR_022631 disease phenotype-associated VAR_022631 phenoCommon Retinitis pigmentosa type 13 (RP13) [MIM:600059] VAR_022632 commonName VAR_022632 VAR_022632 disease phenotype-associated VAR_022632 phenoCommon Retinitis pigmentosa type 13 (RP13) [MIM:600059] VAR_022633 commonName VAR_022633 VAR_022633 disease phenotype-associated VAR_022633 phenoCommon Retinitis pigmentosa type 13 (RP13) [MIM:600059] VAR_022634 commonName VAR_022634 VAR_022634 disease not phenotype-associated VAR_022635 commonName VAR_022635 VAR_022635 disease not phenotype-associated VAR_022636 commonName VAR_022636 VAR_022636 disease not phenotype-associated VAR_022642 commonName VAR_022642 VAR_022642 disease not phenotype-associated VAR_022643 commonName VAR_022643 VAR_022643 disease not phenotype-associated VAR_022644 commonName VAR_022644 VAR_022644 disease not phenotype-associated VAR_022647 commonName VAR_022647 VAR_022647 disease phenotype-associated VAR_022647 phenoCommon Trichothiodystrophy photosensitive (TTDP) [MIM:601675] VAR_022648 commonName VAR_022648 VAR_022648 disease not phenotype-associated VAR_022649 commonName VAR_022649 VAR_022649 disease phenotype-associated VAR_022649 phenoCommon Roberts syndrome (RBS) [MIM:268300] VAR_022650 commonName VAR_022650 VAR_022650 disease not phenotype-associated VAR_022651 commonName VAR_022651 VAR_022651 disease not phenotype-associated VAR_022652 commonName VAR_022652 VAR_022652 disease not phenotype-associated VAR_022653 commonName VAR_022653 VAR_022653 disease not phenotype-associated VAR_022654 commonName VAR_022654 VAR_022654 disease not phenotype-associated VAR_022655 commonName VAR_022655 VAR_022655 disease not phenotype-associated VAR_022656 commonName VAR_022656 VAR_022656 disease not phenotype-associated VAR_022658 commonName VAR_022658 VAR_022658 disease not phenotype-associated VAR_022659 commonName VAR_022659 VAR_022659 disease not phenotype-associated VAR_022660 commonName VAR_022660 VAR_022660 disease not phenotype-associated VAR_022661 commonName VAR_022661 VAR_022661 disease phenotype-associated VAR_022661 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C1 (MDDGC1) [MIM:609308] VAR_022663 commonName VAR_022663 VAR_022663 disease phenotype-associated VAR_022663 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_022664 commonName VAR_022664 VAR_022664 disease phenotype-associated VAR_022664 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_022665 commonName VAR_022665 VAR_022665 disease not phenotype-associated VAR_022666 commonName VAR_022666 VAR_022666 disease phenotype-associated VAR_022666 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_022667 commonName VAR_022667 VAR_022667 disease phenotype-associated VAR_022667 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_022668 commonName VAR_022668 VAR_022668 disease phenotype-associated VAR_022668 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_022669 commonName VAR_022669 VAR_022669 disease phenotype-associated VAR_022669 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_022670 commonName VAR_022670 VAR_022670 disease phenotype-associated VAR_022670 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_022671 commonName VAR_022671 VAR_022671 disease phenotype-associated VAR_022671 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_022672 commonName VAR_022672 VAR_022672 disease phenotype-associated VAR_022672 phenoCommon Hailey-Hailey disease (HHD) [MIM:169600] VAR_022673 commonName VAR_022673 VAR_022673 disease phenotype-associated VAR_022673 phenoCommon Hailey-Hailey disease (HHD) [MIM:169600] VAR_022674 commonName VAR_022674 VAR_022674 disease phenotype-associated VAR_022674 phenoCommon Hailey-Hailey disease (HHD) [MIM:169600] VAR_022675 commonName VAR_022675 VAR_022675 disease phenotype-associated VAR_022675 phenoCommon Hailey-Hailey disease (HHD) [MIM:169600] VAR_022678 commonName VAR_022678 VAR_022678 disease not phenotype-associated VAR_022679 commonName VAR_022679 VAR_022679 disease not phenotype-associated VAR_022680 commonName VAR_022680 VAR_022680 disease not phenotype-associated VAR_022681 commonName VAR_022681 VAR_022681 disease not phenotype-associated VAR_022682 commonName VAR_022682 VAR_022682 disease not phenotype-associated VAR_022683 comment A lung cancer cell line VAR_022683 commonName VAR_022683 VAR_022684 commonName VAR_022684 VAR_022684 disease not phenotype-associated VAR_022686 commonName VAR_022686 VAR_022686 disease not phenotype-associated VAR_022687 commonName VAR_022687 VAR_022687 disease phenotype-associated VAR_022687 phenoCommon Infantile systemic hyalinosis (ISH) [MIM:236490] VAR_022688 commonName VAR_022688 VAR_022688 disease phenotype-associated VAR_022688 phenoCommon Juvenile hyaline fibromatosis (JHF) [MIM:228600] VAR_022689 commonName VAR_022689 VAR_022689 disease phenotype-associated VAR_022689 phenoCommon Infantile systemic hyalinosis (ISH) [MIM:236490] VAR_022690 commonName VAR_022690 VAR_022690 disease phenotype-associated VAR_022690 phenoCommon Infantile systemic hyalinosis (ISH) [MIM:236490] VAR_022692 commonName VAR_022692 VAR_022692 disease phenotype-associated VAR_022692 phenoCommon Juvenile hyaline fibromatosis (JHF) [MIM:228600] VAR_022693 commonName VAR_022693 VAR_022693 disease not phenotype-associated VAR_022694 commonName VAR_022694 VAR_022694 disease phenotype-associated VAR_022694 phenoCommon Juvenile hyaline fibromatosis (JHF) [MIM:228600] VAR_022695 commonName VAR_022695 VAR_022695 disease not phenotype-associated VAR_022696 commonName VAR_022696 VAR_022696 disease not phenotype-associated VAR_022697 commonName VAR_022697 VAR_022697 disease not phenotype-associated VAR_022698 commonName VAR_022698 VAR_022698 disease phenotype-associated VAR_022698 phenoCommon Dent disease type 2 (DD2) [MIM:300555] VAR_022698 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_022699 commonName VAR_022699 VAR_022699 disease phenotype-associated VAR_022699 phenoCommon Dent disease type 2 (DD2) [MIM:300555] VAR_022700 commonName VAR_022700 VAR_022700 disease phenotype-associated VAR_022700 phenoCommon Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367] VAR_022701 commonName VAR_022701 VAR_022701 disease phenotype-associated VAR_022701 phenoCommon Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367] VAR_022703 commonName VAR_022703 VAR_022703 disease phenotype-associated VAR_022703 phenoCommon Dementia Lewy body (DLB) [MIM:127750] VAR_022703 phenoCommon Parkinson disease type 1 (PARK1) [MIM:168601] VAR_022704 commonName VAR_022704 VAR_022704 disease not phenotype-associated VAR_022705 commonName VAR_022705 VAR_022705 disease not phenotype-associated VAR_022706 commonName VAR_022706 VAR_022706 disease not phenotype-associated VAR_022707 commonName VAR_022707 VAR_022707 disease not phenotype-associated VAR_022710 commonName VAR_022710 VAR_022710 disease phenotype-associated VAR_022710 phenoCommon Albinism oculocutaneous type 4 (OCA4) [MIM:606574] VAR_022711 commonName VAR_022711 VAR_022711 disease phenotype-associated VAR_022711 phenoCommon Albinism oculocutaneous type 4 (OCA4) [MIM:606574] VAR_022712 commonName VAR_022712 VAR_022712 disease phenotype-associated VAR_022712 phenoCommon Albinism oculocutaneous type 4 (OCA4) [MIM:606574] VAR_022713 commonName VAR_022713 VAR_022713 disease phenotype-associated VAR_022713 phenoCommon Albinism oculocutaneous type 4 (OCA4) [MIM:606574] VAR_022714 commonName VAR_022714 VAR_022714 disease phenotype-associated VAR_022714 phenoCommon Albinism oculocutaneous type 4 (OCA4) [MIM:606574] VAR_022716 commonName VAR_022716 VAR_022716 disease not phenotype-associated VAR_022717 commonName VAR_022717 VAR_022717 disease phenotype-associated VAR_022717 phenoCommon Albinism oculocutaneous type 4 (OCA4) [MIM:606574] VAR_022718 commonName VAR_022718 VAR_022718 disease phenotype-associated VAR_022718 phenoCommon Albinism oculocutaneous type 4 (OCA4) [MIM:606574] VAR_022719 commonName VAR_022719 VAR_022719 disease phenotype-associated VAR_022719 phenoCommon Albinism oculocutaneous type 4 (OCA4) [MIM:606574] VAR_022720 commonName VAR_022720 VAR_022720 disease phenotype-associated VAR_022720 phenoCommon Albinism oculocutaneous type 4 (OCA4) [MIM:606574] VAR_022721 commonName VAR_022721 VAR_022721 disease not phenotype-associated VAR_022722 commonName VAR_022722 VAR_022722 disease not phenotype-associated VAR_022730 commonName VAR_022730 VAR_022730 disease phenotype-associated VAR_022730 phenoCommon Mental retardation syndromic X-linked JARID1C-related (MRXSJ) [MIM:300534] VAR_022731 commonName VAR_022731 VAR_022731 disease phenotype-associated VAR_022731 phenoCommon Mental retardation syndromic X-linked JARID1C-related (MRXSJ) [MIM:300534] VAR_022732 commonName VAR_022732 VAR_022732 disease phenotype-associated VAR_022732 phenoCommon Mental retardation syndromic X-linked JARID1C-related (MRXSJ) [MIM:300534] VAR_022733 commonName VAR_022733 VAR_022733 disease phenotype-associated VAR_022733 phenoCommon Mental retardation syndromic X-linked JARID1C-related (MRXSJ) [MIM:300534] VAR_022734 commonName VAR_022734 VAR_022734 disease phenotype-associated VAR_022734 phenoCommon Periventricular nodular heterotopia type 4 (PVNH4) [MIM:300537] VAR_022735 commonName VAR_022735 VAR_022735 disease not phenotype-associated VAR_022736 commonName VAR_022736 VAR_022736 disease phenotype-associated VAR_022736 phenoCommon Spinocerebellar ataxia type 27 (SCA27) [MIM:609307] VAR_022737 commonName VAR_022737 VAR_022737 disease phenotype-associated VAR_022737 phenoCommon Epileptic encephalopathy early infantile type 3 (EIEE3) [MIM:609304] VAR_022738 commonName VAR_022738 VAR_022738 disease not phenotype-associated VAR_022739 commonName VAR_022739 VAR_022739 disease not phenotype-associated VAR_022740 commonName VAR_022740 VAR_022740 disease phenotype-associated VAR_022740 phenoCommon Smith-McCort dysplasia (SMC) [MIM:607326] VAR_022742 commonName VAR_022742 VAR_022742 disease not phenotype-associated VAR_022743 commonName VAR_022743 VAR_022743 disease phenotype-associated VAR_022743 phenoCommon Hereditary intrinsic factor deficiency (IFD) [MIM:261000] VAR_022744 commonName VAR_022744 VAR_022744 disease not phenotype-associated VAR_022745 commonName VAR_022745 VAR_022745 disease phenotype-associated VAR_022745 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110] VAR_022746 commonName VAR_022746 VAR_022746 disease phenotype-associated VAR_022746 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110] VAR_022747 commonName VAR_022747 VAR_022747 disease phenotype-associated VAR_022747 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110] VAR_022748 commonName VAR_022748 VAR_022748 disease phenotype-associated VAR_022748 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110] VAR_022749 commonName VAR_022749 VAR_022749 disease phenotype-associated VAR_022749 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110] VAR_022750 commonName VAR_022750 VAR_022750 disease phenotype-associated VAR_022750 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110] VAR_022752 commonName VAR_022752 VAR_022752 disease phenotype-associated VAR_022752 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110] VAR_022753 commonName VAR_022753 VAR_022753 disease phenotype-associated VAR_022753 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110] VAR_022754 commonName VAR_022754 VAR_022754 disease phenotype-associated VAR_022754 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110] VAR_022755 commonName VAR_022755 VAR_022755 disease phenotype-associated VAR_022755 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110] VAR_022756 commonName VAR_022756 VAR_022756 disease phenotype-associated VAR_022756 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110] VAR_022757 commonName VAR_022757 VAR_022757 disease phenotype-associated VAR_022757 phenoCommon Adrenal hyperplasia type 5 (AH5) [MIM:202110] VAR_022758 commonName VAR_022758 VAR_022758 disease phenotype-associated VAR_022758 phenoCommon Dopamine beta-hydroxylase deficiency (DBH deficiency) [MIM:223360] VAR_022759 commonName VAR_022759 VAR_022759 disease phenotype-associated VAR_022759 phenoCommon Dopamine beta-hydroxylase deficiency (DBH deficiency) [MIM:223360] VAR_022760 commonName VAR_022760 VAR_022760 disease phenotype-associated VAR_022760 phenoCommon Dopamine beta-hydroxylase deficiency (DBH deficiency) [MIM:223360] VAR_022761 commonName VAR_022761 VAR_022762 commonName VAR_022762 VAR_022762 disease not phenotype-associated VAR_022763 commonName VAR_022763 VAR_022763 disease not phenotype-associated VAR_022764 commonName VAR_022764 VAR_022764 disease not phenotype-associated VAR_022765 commonName VAR_022765 VAR_022765 disease not phenotype-associated VAR_022766 commonName VAR_022766 VAR_022766 disease not phenotype-associated VAR_022767 commonName VAR_022767 VAR_022767 disease not phenotype-associated VAR_022768 commonName VAR_022768 VAR_022768 disease not phenotype-associated VAR_022769 commonName VAR_022769 VAR_022769 disease not phenotype-associated VAR_022770 commonName VAR_022770 VAR_022770 disease not phenotype-associated VAR_022771 commonName VAR_022771 VAR_022771 disease not phenotype-associated VAR_022772 commonName VAR_022772 VAR_022772 disease not phenotype-associated VAR_022773 commonName VAR_022773 VAR_022773 disease not phenotype-associated VAR_022774 commonName VAR_022774 VAR_022774 disease not phenotype-associated VAR_022775 commonName VAR_022775 VAR_022775 disease not phenotype-associated VAR_022776 commonName VAR_022776 VAR_022776 disease not phenotype-associated VAR_022780 commonName VAR_022780 VAR_022780 disease not phenotype-associated VAR_022781 commonName VAR_022781 VAR_022781 disease not phenotype-associated VAR_022782 commonName VAR_022782 VAR_022782 disease not phenotype-associated VAR_022783 commonName VAR_022783 VAR_022783 disease not phenotype-associated VAR_022784 commonName VAR_022784 VAR_022784 disease not phenotype-associated VAR_022786 commonName VAR_022786 VAR_022786 disease not phenotype-associated VAR_022787 commonName VAR_022787 VAR_022787 disease not phenotype-associated VAR_022788 commonName VAR_022788 VAR_022788 disease not phenotype-associated VAR_022789 commonName VAR_022789 VAR_022789 disease not phenotype-associated VAR_022790 commonName VAR_022790 VAR_022790 disease not phenotype-associated VAR_022791 commonName VAR_022791 VAR_022791 disease not phenotype-associated VAR_022792 commonName VAR_022792 VAR_022792 disease not phenotype-associated VAR_022793 commonName VAR_022793 VAR_022793 disease not phenotype-associated VAR_022794 commonName VAR_022794 VAR_022794 disease not phenotype-associated VAR_022795 commonName VAR_022795 VAR_022795 disease not phenotype-associated VAR_022796 commonName VAR_022796 VAR_022796 disease not phenotype-associated VAR_022797 commonName VAR_022797 VAR_022797 disease not phenotype-associated VAR_022798 commonName VAR_022798 VAR_022798 disease not phenotype-associated VAR_022799 commonName VAR_022799 VAR_022799 disease not phenotype-associated VAR_022800 commonName VAR_022800 VAR_022800 disease not phenotype-associated VAR_022801 commonName VAR_022801 VAR_022801 disease not phenotype-associated VAR_022802 commonName VAR_022802 VAR_022802 disease not phenotype-associated VAR_022803 commonName VAR_022803 VAR_022803 disease not phenotype-associated VAR_022804 commonName VAR_022804 VAR_022804 disease not phenotype-associated VAR_022805 commonName VAR_022805 VAR_022805 disease not phenotype-associated VAR_022806 commonName VAR_022806 VAR_022806 disease phenotype-associated VAR_022806 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000] VAR_022807 commonName VAR_022807 VAR_022807 disease phenotype-associated VAR_022807 phenoCommon Wiskott-Aldrich syndrome (WAS) [MIM:301000] VAR_022808 commonName VAR_022808 VAR_022808 disease not phenotype-associated VAR_022809 commonName VAR_022809 VAR_022809 disease not phenotype-associated VAR_022810 commonName VAR_022810 VAR_022810 disease not phenotype-associated VAR_022811 commonName VAR_022811 VAR_022811 disease not phenotype-associated VAR_022812 commonName VAR_022812 VAR_022812 disease not phenotype-associated VAR_022813 commonName VAR_022813 VAR_022813 disease not phenotype-associated VAR_022814 commonName VAR_022814 VAR_022814 disease not phenotype-associated VAR_022815 commonName VAR_022815 VAR_022815 disease phenotype-associated VAR_022815 phenoCommon Nephronophthisis type 3 (NPHP3) [MIM:604387] VAR_022816 commonName VAR_022816 VAR_022816 disease phenotype-associated VAR_022816 phenoCommon Nephronophthisis type 3 (NPHP3) [MIM:604387] VAR_022817 commonName VAR_022817 VAR_022817 disease phenotype-associated VAR_022817 phenoCommon Nephronophthisis type 3 (NPHP3) [MIM:604387] VAR_022818 commonName VAR_022818 VAR_022818 disease phenotype-associated VAR_022818 phenoCommon Nephronophthisis type 3 (NPHP3) [MIM:604387] VAR_022819 commonName VAR_022819 VAR_022819 disease phenotype-associated VAR_022819 phenoCommon Nephronophthisis type 3 (NPHP3) [MIM:604387] VAR_022820 commonName VAR_022820 VAR_022820 disease phenotype-associated VAR_022820 phenoCommon Nephronophthisis type 3 (NPHP3) [MIM:604387] VAR_022821 commonName VAR_022821 VAR_022821 disease phenotype-associated VAR_022821 phenoCommon Nephronophthisis type 3 (NPHP3) [MIM:604387] VAR_022822 commonName VAR_022822 VAR_022822 disease phenotype-associated VAR_022822 phenoCommon Nephronophthisis type 2 (NPHP2) [MIM:602088] VAR_022823 commonName VAR_022823 VAR_022823 disease phenotype-associated VAR_022823 phenoCommon Nephronophthisis type 2 (NPHP2) [MIM:602088] VAR_022824 commonName VAR_022824 VAR_022824 disease not phenotype-associated VAR_022825 commonName VAR_022825 VAR_022825 disease not phenotype-associated VAR_022826 commonName VAR_022826 VAR_022826 disease not phenotype-associated VAR_022827 commonName VAR_022827 VAR_022827 disease not phenotype-associated VAR_022828 commonName VAR_022828 VAR_022828 disease phenotype-associated VAR_022828 phenoCommon Juvenile polyposis syndrome (JPS) [MIM:174900] VAR_022829 commonName VAR_022829 VAR_022829 disease phenotype-associated VAR_022829 phenoCommon Juvenile polyposis syndrome (JPS) [MIM:174900] VAR_022830 commonName VAR_022830 VAR_022830 disease phenotype-associated VAR_022830 phenoCommon Juvenile polyposis syndrome (JPS) [MIM:174900] VAR_022831 commonName VAR_022831 VAR_022831 disease phenotype-associated VAR_022831 phenoCommon Juvenile polyposis syndrome (JPS) [MIM:174900] VAR_022832 commonName VAR_022832 VAR_022832 disease phenotype-associated VAR_022832 phenoCommon Juvenile polyposis syndrome (JPS) [MIM:174900] VAR_022833 commonName VAR_022833 VAR_022833 disease phenotype-associated VAR_022833 phenoCommon Juvenile polyposis syndrome (JPS) [MIM:174900] VAR_022834 commonName VAR_022834 VAR_022834 disease not phenotype-associated VAR_022836 comment A follicular thyroid carcinoma VAR_022836 commonName VAR_022836 VAR_022837 commonName VAR_022837 VAR_022838 commonName VAR_022838 VAR_022838 disease phenotype-associated VAR_022838 phenoCommon Thrombocytopenia type 2 (THC2) [MIM:188000] VAR_022839 commonName VAR_022839 VAR_022839 disease not phenotype-associated VAR_022840 commonName VAR_022840 VAR_022840 disease not phenotype-associated VAR_022841 commonName VAR_022841 VAR_022841 disease not phenotype-associated VAR_022842 commonName VAR_022842 VAR_022842 disease not phenotype-associated VAR_022849 commonName VAR_022849 VAR_022849 disease not phenotype-associated VAR_022850 commonName VAR_022850 VAR_022850 disease phenotype-associated VAR_022850 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A5 (MDDGA5) [MIM:613153] VAR_022850 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] VAR_022851 commonName VAR_022851 VAR_022851 disease phenotype-associated VAR_022851 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] VAR_022852 commonName VAR_022852 VAR_022852 disease phenotype-associated VAR_022852 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A5 (MDDGA5) [MIM:613153] VAR_022853 commonName VAR_022853 VAR_022853 disease phenotype-associated VAR_022853 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] VAR_022854 commonName VAR_022854 VAR_022854 disease phenotype-associated VAR_022854 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612] VAR_022855 commonName VAR_022855 VAR_022855 disease phenotype-associated VAR_022855 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612] VAR_022856 commonName VAR_022856 VAR_022856 disease phenotype-associated VAR_022856 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] VAR_022857 commonName VAR_022857 VAR_022857 disease not phenotype-associated VAR_022858 commonName VAR_022858 VAR_022858 disease not phenotype-associated VAR_022859 commonName VAR_022859 VAR_022859 disease not phenotype-associated VAR_022860 commonName VAR_022860 VAR_022860 disease not phenotype-associated VAR_022861 commonName VAR_022861 VAR_022861 disease not phenotype-associated VAR_022862 commonName VAR_022862 VAR_022862 disease not phenotype-associated VAR_022863 commonName VAR_022863 VAR_022863 disease not phenotype-associated VAR_022866 commonName VAR_022866 VAR_022866 disease not phenotype-associated VAR_022867 commonName VAR_022867 VAR_022867 disease phenotype-associated VAR_022867 phenoCommon Deafness autosomal dominant type 4A (DFNA4A) [MIM:600652] VAR_022868 commonName VAR_022868 VAR_022868 disease phenotype-associated VAR_022868 phenoCommon Deafness autosomal dominant type 4A (DFNA4A) [MIM:600652] VAR_022869 commonName VAR_022869 VAR_022869 disease phenotype-associated VAR_022869 phenoCommon Deafness autosomal dominant type 4A (DFNA4A) [MIM:600652] VAR_022870 commonName VAR_022870 VAR_022870 disease not phenotype-associated VAR_022871 commonName VAR_022871 VAR_022871 disease not phenotype-associated VAR_022872 commonName VAR_022872 VAR_022872 disease not phenotype-associated VAR_022873 commonName VAR_022873 VAR_022873 disease not phenotype-associated VAR_022874 commonName VAR_022874 VAR_022874 disease phenotype-associated VAR_022874 phenoCommon X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310] VAR_022884 commonName VAR_022884 VAR_022884 disease not phenotype-associated VAR_022885 commonName VAR_022885 VAR_022885 disease not phenotype-associated VAR_022886 commonName VAR_022886 VAR_022886 disease not phenotype-associated VAR_022887 commonName VAR_022887 VAR_022887 disease not phenotype-associated VAR_022888 commonName VAR_022888 VAR_022888 disease not phenotype-associated VAR_022890 commonName VAR_022890 VAR_022890 disease not phenotype-associated VAR_022893 commonName VAR_022893 VAR_022893 disease not phenotype-associated VAR_022895 comment A lung cancer patient VAR_022895 commonName VAR_022895 VAR_022896 comment A colorectal cancer patient VAR_022896 commonName VAR_022896 VAR_022897 comment A lung cancer patient VAR_022897 commonName VAR_022897 VAR_022898 comment A colon adenocarcinoma VAR_022898 commonName VAR_022898 VAR_022899 comment A lung cancer patient VAR_022899 commonName VAR_022899 VAR_022900 comment A colorectal cancer patient VAR_022900 commonName VAR_022900 VAR_022912 commonName VAR_022912 VAR_022912 disease not phenotype-associated VAR_022913 commonName VAR_022913 VAR_022913 disease not phenotype-associated VAR_022914 commonName VAR_022914 VAR_022914 disease not phenotype-associated VAR_022915 commonName VAR_022915 VAR_022915 disease phenotype-associated VAR_022915 phenoCommon Histidinemia (HISTID) [MIM:235800] VAR_022916 commonName VAR_022916 VAR_022916 disease phenotype-associated VAR_022916 phenoCommon Histidinemia (HISTID) [MIM:235800] VAR_022917 commonName VAR_022917 VAR_022917 disease phenotype-associated VAR_022917 phenoCommon Histidinemia (HISTID) [MIM:235800] VAR_022918 commonName VAR_022918 VAR_022918 disease phenotype-associated VAR_022918 phenoCommon Histidinemia (HISTID) [MIM:235800] VAR_022919 commonName VAR_022919 VAR_022919 disease phenotype-associated VAR_022919 phenoCommon Tuberous sclerosis type 2 (TSC2) [MIM:613254] VAR_022920 commonName VAR_022920 VAR_022920 disease not phenotype-associated VAR_022921 commonName VAR_022921 VAR_022921 disease not phenotype-associated VAR_022922 commonName VAR_022922 VAR_022922 disease not phenotype-associated VAR_022924 commonName VAR_022924 VAR_022924 disease not phenotype-associated VAR_022925 commonName VAR_022925 VAR_022925 disease not phenotype-associated VAR_022926 commonName VAR_022926 VAR_022926 disease not phenotype-associated VAR_022927 commonName VAR_022927 VAR_022927 disease phenotype-associated VAR_022927 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_022928 commonName VAR_022928 VAR_022928 disease phenotype-associated VAR_022928 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_022929 commonName VAR_022929 VAR_022929 disease phenotype-associated VAR_022929 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_022932 commonName VAR_022932 VAR_022932 disease not phenotype-associated VAR_022933 commonName VAR_022933 VAR_022933 disease not phenotype-associated VAR_022939 commonName VAR_022939 VAR_022939 disease not phenotype-associated VAR_022940 commonName VAR_022940 VAR_022940 disease phenotype-associated VAR_022940 phenoCommon Trichothiodystrophy non-photosensitive type 1 (TTDN1) [MIM:234050] VAR_022941 commonName VAR_022941 VAR_022941 disease phenotype-associated VAR_022941 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835] VAR_022942 commonName VAR_022942 VAR_022942 disease phenotype-associated VAR_022942 phenoCommon Pigmented paravenous chorioretinal atrophy (PPCRA) [MIM:172870] VAR_022943 commonName VAR_022943 VAR_022943 disease phenotype-associated VAR_022943 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105] VAR_022944 commonName VAR_022944 VAR_022945 commonName VAR_022945 VAR_022946 commonName VAR_022946 VAR_022946 disease phenotype-associated VAR_022946 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835] VAR_022947 commonName VAR_022947 VAR_022947 disease phenotype-associated VAR_022947 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105] VAR_022948 commonName VAR_022948 VAR_022948 disease phenotype-associated VAR_022948 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835] VAR_022949 commonName VAR_022949 VAR_022949 disease phenotype-associated VAR_022949 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835] VAR_022950 commonName VAR_022950 VAR_022950 disease phenotype-associated VAR_022950 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105] VAR_022951 commonName VAR_022951 VAR_022951 disease phenotype-associated VAR_022951 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835] VAR_022952 commonName VAR_022952 VAR_022952 disease phenotype-associated VAR_022952 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105] VAR_022953 commonName VAR_022953 VAR_022953 disease not phenotype-associated VAR_022954 commonName VAR_022954 VAR_022954 disease phenotype-associated VAR_022954 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835] VAR_022955 commonName VAR_022955 VAR_022955 disease phenotype-associated VAR_022955 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835] VAR_022956 commonName VAR_022956 VAR_022956 disease phenotype-associated VAR_022956 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835] VAR_022958 commonName VAR_022958 VAR_022958 disease not phenotype-associated VAR_022959 commonName VAR_022959 VAR_022959 disease not phenotype-associated VAR_022960 commonName VAR_022960 VAR_022960 disease phenotype-associated VAR_022960 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105] VAR_022961 commonName VAR_022961 VAR_022961 disease phenotype-associated VAR_022961 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105] VAR_022962 commonName VAR_022962 VAR_022962 disease phenotype-associated VAR_022962 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105] VAR_022963 commonName VAR_022963 VAR_022963 disease phenotype-associated VAR_022963 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835] VAR_022963 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105] VAR_022964 commonName VAR_022964 VAR_022964 disease phenotype-associated VAR_022964 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835] VAR_022984 commonName VAR_022984 VAR_022984 disease not phenotype-associated VAR_022985 commonName VAR_022985 VAR_022985 disease not phenotype-associated VAR_022986 commonName VAR_022986 VAR_022986 disease not phenotype-associated VAR_022987 commonName VAR_022987 VAR_022987 disease not phenotype-associated VAR_022988 commonName VAR_022988 VAR_022988 disease not phenotype-associated VAR_022989 commonName VAR_022989 VAR_022989 disease not phenotype-associated VAR_022990 commonName VAR_022990 VAR_022990 disease not phenotype-associated VAR_022991 commonName VAR_022991 VAR_022991 disease not phenotype-associated VAR_022992 commonName VAR_022992 VAR_022992 disease not phenotype-associated VAR_022993 commonName VAR_022993 VAR_022993 disease not phenotype-associated VAR_022994 commonName VAR_022994 VAR_022994 disease not phenotype-associated VAR_022996 commonName VAR_022996 VAR_022996 disease not phenotype-associated VAR_022997 commonName VAR_022997 VAR_022997 disease not phenotype-associated VAR_022998 commonName VAR_022998 VAR_022998 disease not phenotype-associated VAR_022999 commonName VAR_022999 VAR_022999 disease not phenotype-associated VAR_023000 commonName VAR_023000 VAR_023000 disease not phenotype-associated VAR_023001 commonName VAR_023001 VAR_023001 disease not phenotype-associated VAR_023002 commonName VAR_023002 VAR_023002 disease not phenotype-associated VAR_023003 commonName VAR_023003 VAR_023003 disease phenotype-associated VAR_023003 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110] VAR_023004 commonName VAR_023004 VAR_023004 disease phenotype-associated VAR_023004 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_023005 commonName VAR_023005 VAR_023005 disease phenotype-associated VAR_023005 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_023006 commonName VAR_023006 VAR_023006 disease phenotype-associated VAR_023006 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_023007 commonName VAR_023007 VAR_023007 disease phenotype-associated VAR_023007 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_023008 commonName VAR_023008 VAR_023008 disease phenotype-associated VAR_023008 phenoCommon Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512] VAR_023009 commonName VAR_023009 VAR_023009 disease phenotype-associated VAR_023009 phenoCommon Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512] VAR_023010 commonName VAR_023010 VAR_023010 disease not phenotype-associated VAR_023011 commonName VAR_023011 VAR_023011 disease phenotype-associated VAR_023011 phenoCommon Wilson disease (WD) [MIM:277900] VAR_023012 commonName VAR_023012 VAR_023012 disease phenotype-associated VAR_023012 phenoCommon Wilson disease (WD) [MIM:277900] VAR_023013 commonName VAR_023013 VAR_023013 disease phenotype-associated VAR_023013 phenoCommon Wilson disease (WD) [MIM:277900] VAR_023014 commonName VAR_023014 VAR_023014 disease phenotype-associated VAR_023014 phenoCommon Wilson disease (WD) [MIM:277900] VAR_023015 commonName VAR_023015 VAR_023015 disease phenotype-associated VAR_023015 phenoCommon Wilson disease (WD) [MIM:277900] VAR_023016 commonName VAR_023016 VAR_023016 disease phenotype-associated VAR_023016 phenoCommon Wilson disease (WD) [MIM:277900] VAR_023017 commonName VAR_023017 VAR_023017 disease phenotype-associated VAR_023017 phenoCommon Wilson disease (WD) [MIM:277900] VAR_023046 commonName VAR_023046 VAR_023046 disease phenotype-associated VAR_023046 phenoCommon Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931] VAR_023047 commonName VAR_023047 VAR_023047 disease not phenotype-associated VAR_023048 commonName VAR_023048 VAR_023048 disease not phenotype-associated VAR_023049 commonName VAR_023049 VAR_023049 disease not phenotype-associated VAR_023050 commonName VAR_023050 VAR_023050 disease not phenotype-associated VAR_023051 commonName VAR_023051 VAR_023051 disease not phenotype-associated VAR_023052 commonName VAR_023052 VAR_023052 disease phenotype-associated VAR_023052 phenoCommon Monilethrix (MLTRX) [MIM:158000] VAR_023053 commonName VAR_023053 VAR_023053 disease phenotype-associated VAR_023053 phenoCommon Monilethrix (MLTRX) [MIM:158000] VAR_023054 commonName VAR_023054 VAR_023054 disease phenotype-associated VAR_023054 phenoCommon Cirrhosis (CIRRH) [MIM:215600] VAR_023055 commonName VAR_023055 VAR_023055 disease not phenotype-associated VAR_023056 commonName VAR_023056 VAR_023056 disease phenotype-associated VAR_023056 phenoCommon Cirrhosis (CIRRH) [MIM:215600] VAR_023057 commonName VAR_023057 VAR_023057 disease phenotype-associated VAR_023057 phenoCommon Cirrhosis (CIRRH) [MIM:215600] VAR_023058 commonName VAR_023058 VAR_023058 disease phenotype-associated VAR_023058 phenoCommon Cirrhosis (CIRRH) [MIM:215600] VAR_023059 commonName VAR_023059 VAR_023059 disease phenotype-associated VAR_023059 phenoCommon Cirrhosis (CIRRH) [MIM:215600] VAR_023060 commonName VAR_023060 VAR_023060 disease phenotype-associated VAR_023060 phenoCommon Cirrhosis (CIRRH) [MIM:215600] VAR_023061 commonName VAR_023061 VAR_023061 disease not phenotype-associated VAR_023062 commonName VAR_023062 VAR_023062 disease phenotype-associated VAR_023062 phenoCommon Pachyonychia congenita type 2 (PC2) [MIM:167210] VAR_023064 commonName VAR_023064 VAR_023064 disease not phenotype-associated VAR_023067 commonName VAR_023067 VAR_023067 disease not phenotype-associated VAR_023068 commonName VAR_023068 VAR_023068 disease not phenotype-associated VAR_023069 commonName VAR_023069 VAR_023069 disease not phenotype-associated VAR_023070 commonName VAR_023070 VAR_023070 disease not phenotype-associated VAR_023073 commonName VAR_023073 VAR_023073 disease not phenotype-associated VAR_023074 commonName VAR_023074 VAR_023074 disease not phenotype-associated VAR_023075 commonName VAR_023075 VAR_023075 disease not phenotype-associated VAR_023076 commonName VAR_023076 VAR_023076 disease not phenotype-associated VAR_023077 commonName VAR_023077 VAR_023077 disease phenotype-associated VAR_023077 phenoCommon Omenn syndrome (OS) [MIM:603554] VAR_023078 commonName VAR_023078 VAR_023079 commonName VAR_023079 VAR_023080 commonName VAR_023080 VAR_023080 disease not phenotype-associated VAR_023082 commonName VAR_023082 VAR_023082 disease not phenotype-associated VAR_023083 commonName VAR_023083 VAR_023083 disease not phenotype-associated VAR_023084 commonName VAR_023084 VAR_023084 disease phenotype-associated VAR_023084 phenoCommon Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370] VAR_023085 commonName VAR_023085 VAR_023085 disease phenotype-associated VAR_023085 phenoCommon Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370] VAR_023086 commonName VAR_023086 VAR_023086 disease phenotype-associated VAR_023086 phenoCommon Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370] VAR_023087 commonName VAR_023087 VAR_023087 disease phenotype-associated VAR_023087 phenoCommon Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370] VAR_023088 commonName VAR_023088 VAR_023088 disease phenotype-associated VAR_023088 phenoCommon Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370] VAR_023089 commonName VAR_023089 VAR_023089 disease phenotype-associated VAR_023089 phenoCommon Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370] VAR_023090 commonName VAR_023090 VAR_023090 disease phenotype-associated VAR_023090 phenoCommon Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370] VAR_023091 commonName VAR_023091 VAR_023091 disease phenotype-associated VAR_023091 phenoCommon Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370] VAR_023092 commonName VAR_023092 VAR_023092 disease not phenotype-associated VAR_023093 commonName VAR_023093 VAR_023093 disease not phenotype-associated VAR_023094 commonName VAR_023094 VAR_023094 disease not phenotype-associated VAR_023095 commonName VAR_023095 VAR_023095 disease not phenotype-associated VAR_023096 commonName VAR_023096 VAR_023096 disease not phenotype-associated VAR_023097 commonName VAR_023097 VAR_023097 disease not phenotype-associated VAR_023098 commonName VAR_023098 VAR_023098 disease not phenotype-associated VAR_023099 commonName VAR_023099 VAR_023099 disease not phenotype-associated VAR_023100 commonName VAR_023100 VAR_023100 disease not phenotype-associated VAR_023101 commonName VAR_023101 VAR_023101 disease phenotype-associated VAR_023101 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280] VAR_023102 commonName VAR_023102 VAR_023103 commonName VAR_023103 VAR_023103 disease phenotype-associated VAR_023103 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280] VAR_023104 commonName VAR_023104 VAR_023104 disease phenotype-associated VAR_023104 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280] VAR_023104 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B3 (MDDGB3) [MIM:613151] VAR_023105 commonName VAR_023105 VAR_023105 disease phenotype-associated VAR_023105 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280] VAR_023106 commonName VAR_023106 VAR_023106 disease phenotype-associated VAR_023106 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280] VAR_023107 commonName VAR_023107 VAR_023107 disease phenotype-associated VAR_023107 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280] VAR_023107 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B3 (MDDGB3) [MIM:613151] VAR_023108 commonName VAR_023108 VAR_023108 disease phenotype-associated VAR_023108 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280] VAR_023111 commonName VAR_023111 VAR_023111 disease not phenotype-associated VAR_023112 commonName VAR_023112 VAR_023112 disease not phenotype-associated VAR_023113 commonName VAR_023113 VAR_023113 disease not phenotype-associated VAR_023114 commonName VAR_023114 VAR_023114 disease not phenotype-associated VAR_023115 commonName VAR_023115 VAR_023115 disease not phenotype-associated VAR_023116 commonName VAR_023116 VAR_023116 disease not phenotype-associated VAR_023117 commonName VAR_023117 VAR_023117 disease not phenotype-associated VAR_023118 commonName VAR_023118 VAR_023118 disease not phenotype-associated VAR_023119 commonName VAR_023119 VAR_023119 disease not phenotype-associated VAR_023120 commonName VAR_023120 VAR_023120 disease not phenotype-associated VAR_023121 commonName VAR_023121 VAR_023121 disease not phenotype-associated VAR_023122 commonName VAR_023122 VAR_023122 disease not phenotype-associated VAR_023123 commonName VAR_023123 VAR_023123 disease not phenotype-associated VAR_023126 commonName VAR_023126 VAR_023126 disease not phenotype-associated VAR_023127 commonName VAR_023127 VAR_023127 disease phenotype-associated VAR_023127 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110] VAR_023128 commonName VAR_023128 VAR_023128 disease phenotype-associated VAR_023128 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110] VAR_023129 commonName VAR_023129 VAR_023129 disease phenotype-associated VAR_023129 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110] VAR_023130 commonName VAR_023130 VAR_023130 disease phenotype-associated VAR_023130 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110] VAR_023131 commonName VAR_023131 VAR_023131 disease phenotype-associated VAR_023131 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110] VAR_023132 commonName VAR_023132 VAR_023132 disease phenotype-associated VAR_023132 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110] VAR_023133 commonName VAR_023133 VAR_023133 disease phenotype-associated VAR_023133 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110] VAR_023134 commonName VAR_023134 VAR_023134 disease phenotype-associated VAR_023134 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110] VAR_023135 commonName VAR_023135 VAR_023135 disease phenotype-associated VAR_023135 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110] VAR_023136 commonName VAR_023136 VAR_023136 disease phenotype-associated VAR_023136 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110] VAR_023137 commonName VAR_023137 VAR_023137 disease phenotype-associated VAR_023137 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110] VAR_023138 commonName VAR_023138 VAR_023138 disease phenotype-associated VAR_023138 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110] VAR_023139 commonName VAR_023139 VAR_023139 disease phenotype-associated VAR_023139 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110] VAR_023140 commonName VAR_023140 VAR_023140 disease phenotype-associated VAR_023140 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110] VAR_023141 commonName VAR_023141 VAR_023141 disease phenotype-associated VAR_023141 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110] VAR_023142 commonName VAR_023142 VAR_023142 disease not phenotype-associated VAR_023143 commonName VAR_023143 VAR_023143 disease phenotype-associated VAR_023143 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110] VAR_023144 commonName VAR_023144 VAR_023144 disease phenotype-associated VAR_023144 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110] VAR_023145 commonName VAR_023145 VAR_023145 disease phenotype-associated VAR_023145 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110] VAR_023146 commonName VAR_023146 VAR_023146 disease phenotype-associated VAR_023146 phenoCommon Craniofrontonasal syndrome (CFNS) [MIM:304110] VAR_023147 commonName VAR_023147 VAR_023147 disease not phenotype-associated VAR_023148 commonName VAR_023148 VAR_023148 disease phenotype-associated VAR_023148 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023149 commonName VAR_023149 VAR_023149 disease phenotype-associated VAR_023149 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023150 commonName VAR_023150 VAR_023150 disease phenotype-associated VAR_023150 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023151 commonName VAR_023151 VAR_023151 disease phenotype-associated VAR_023151 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023152 commonName VAR_023152 VAR_023152 disease phenotype-associated VAR_023152 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023153 commonName VAR_023153 VAR_023153 disease phenotype-associated VAR_023153 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023154 commonName VAR_023154 VAR_023154 disease phenotype-associated VAR_023154 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023155 commonName VAR_023155 VAR_023155 disease phenotype-associated VAR_023155 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023156 commonName VAR_023156 VAR_023156 disease phenotype-associated VAR_023156 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023157 commonName VAR_023157 VAR_023157 disease phenotype-associated VAR_023157 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023158 commonName VAR_023158 VAR_023158 disease phenotype-associated VAR_023158 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023159 commonName VAR_023159 VAR_023159 disease phenotype-associated VAR_023159 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023160 commonName VAR_023160 VAR_023160 disease phenotype-associated VAR_023160 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023161 commonName VAR_023161 VAR_023161 disease phenotype-associated VAR_023161 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023162 commonName VAR_023162 VAR_023162 disease phenotype-associated VAR_023162 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023163 commonName VAR_023163 VAR_023163 disease phenotype-associated VAR_023163 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023164 commonName VAR_023164 VAR_023164 disease phenotype-associated VAR_023164 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023165 commonName VAR_023165 VAR_023165 disease phenotype-associated VAR_023165 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023166 commonName VAR_023166 VAR_023166 disease phenotype-associated VAR_023166 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023167 commonName VAR_023167 VAR_023167 disease phenotype-associated VAR_023167 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023168 commonName VAR_023168 VAR_023168 disease phenotype-associated VAR_023168 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023169 commonName VAR_023169 VAR_023169 disease phenotype-associated VAR_023169 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023170 commonName VAR_023170 VAR_023170 disease phenotype-associated VAR_023170 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023171 commonName VAR_023171 VAR_023171 disease phenotype-associated VAR_023171 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023172 commonName VAR_023172 VAR_023172 disease phenotype-associated VAR_023172 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023173 commonName VAR_023173 VAR_023173 disease phenotype-associated VAR_023173 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023174 commonName VAR_023174 VAR_023174 disease phenotype-associated VAR_023174 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023175 commonName VAR_023175 VAR_023175 disease phenotype-associated VAR_023175 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023176 commonName VAR_023176 VAR_023176 disease phenotype-associated VAR_023176 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023177 commonName VAR_023177 VAR_023177 disease phenotype-associated VAR_023177 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023178 commonName VAR_023178 VAR_023178 disease phenotype-associated VAR_023178 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023179 commonName VAR_023179 VAR_023179 disease phenotype-associated VAR_023179 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023180 commonName VAR_023180 VAR_023180 disease phenotype-associated VAR_023180 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023181 commonName VAR_023181 VAR_023181 disease phenotype-associated VAR_023181 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023182 commonName VAR_023182 VAR_023182 disease phenotype-associated VAR_023182 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023183 commonName VAR_023183 VAR_023183 disease phenotype-associated VAR_023183 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023184 commonName VAR_023184 VAR_023184 disease phenotype-associated VAR_023184 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023185 commonName VAR_023185 VAR_023185 disease phenotype-associated VAR_023185 phenoCommon Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] VAR_023186 commonName VAR_023186 VAR_023186 disease not phenotype-associated VAR_023187 commonName VAR_023187 VAR_023187 disease not phenotype-associated VAR_023188 commonName VAR_023188 VAR_023188 disease phenotype-associated VAR_023188 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] VAR_023189 commonName VAR_023189 VAR_023189 disease phenotype-associated VAR_023189 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] VAR_023190 commonName VAR_023190 VAR_023190 disease not phenotype-associated VAR_023191 commonName VAR_023191 VAR_023191 disease phenotype-associated VAR_023191 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] VAR_023192 commonName VAR_023192 VAR_023192 disease phenotype-associated VAR_023192 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] VAR_023193 commonName VAR_023193 VAR_023193 disease phenotype-associated VAR_023193 phenoCommon Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] VAR_023194 commonName VAR_023194 VAR_023194 disease not phenotype-associated VAR_023195 commonName VAR_023195 VAR_023195 disease not phenotype-associated VAR_023197 commonName VAR_023197 VAR_023197 disease not phenotype-associated VAR_023198 commonName VAR_023198 VAR_023198 disease not phenotype-associated VAR_023199 commonName VAR_023199 VAR_023199 disease not phenotype-associated VAR_023200 commonName VAR_023200 VAR_023200 disease not phenotype-associated VAR_023201 commonName VAR_023201 VAR_023201 disease phenotype-associated VAR_023201 phenoCommon Fraser syndrome (FRASS) [MIM:219000] VAR_023202 commonName VAR_023202 VAR_023202 disease not phenotype-associated VAR_023203 commonName VAR_023203 VAR_023203 disease not phenotype-associated VAR_023204 commonName VAR_023204 VAR_023204 disease not phenotype-associated VAR_023205 commonName VAR_023205 VAR_023205 disease not phenotype-associated VAR_023206 commonName VAR_023206 VAR_023206 disease not phenotype-associated VAR_023207 commonName VAR_023207 VAR_023207 disease not phenotype-associated VAR_023210 commonName VAR_023210 VAR_023210 disease not phenotype-associated VAR_023211 commonName VAR_023211 VAR_023211 disease not phenotype-associated VAR_023212 commonName VAR_023212 VAR_023212 disease not phenotype-associated VAR_023213 commonName VAR_023213 VAR_023213 disease not phenotype-associated VAR_023214 commonName VAR_023214 VAR_023214 disease not phenotype-associated VAR_023229 commonName VAR_023229 VAR_023229 disease not phenotype-associated VAR_023230 commonName VAR_023230 VAR_023230 disease not phenotype-associated VAR_023232 commonName VAR_023232 VAR_023232 disease not phenotype-associated VAR_023233 commonName VAR_023233 VAR_023233 disease not phenotype-associated VAR_023234 commonName VAR_023234 VAR_023234 disease not phenotype-associated VAR_023235 commonName VAR_023235 VAR_023235 disease not phenotype-associated VAR_023236 commonName VAR_023236 VAR_023236 disease not phenotype-associated VAR_023237 commonName VAR_023237 VAR_023237 disease not phenotype-associated VAR_023238 commonName VAR_023238 VAR_023238 disease not phenotype-associated VAR_023239 commonName VAR_023239 VAR_023239 disease not phenotype-associated VAR_023240 commonName VAR_023240 VAR_023240 disease not phenotype-associated VAR_023242 commonName VAR_023242 VAR_023242 disease not phenotype-associated VAR_023243 commonName VAR_023243 VAR_023243 disease not phenotype-associated VAR_023244 commonName VAR_023244 VAR_023244 disease not phenotype-associated VAR_023245 commonName VAR_023245 VAR_023245 disease not phenotype-associated VAR_023246 commonName VAR_023246 VAR_023246 disease not phenotype-associated VAR_023247 commonName VAR_023247 VAR_023247 disease not phenotype-associated VAR_023248 commonName VAR_023248 VAR_023248 disease not phenotype-associated VAR_023256 commonName VAR_023256 VAR_023256 disease not phenotype-associated VAR_023257 commonName VAR_023257 VAR_023257 disease not phenotype-associated VAR_023258 commonName VAR_023258 VAR_023258 disease not phenotype-associated VAR_023259 commonName VAR_023259 VAR_023259 disease not phenotype-associated VAR_023260 commonName VAR_023260 VAR_023260 disease not phenotype-associated VAR_023261 commonName VAR_023261 VAR_023261 disease phenotype-associated VAR_023261 phenoCommon Menkes disease (MNKD) [MIM:309400] VAR_023262 commonName VAR_023262 VAR_023262 disease phenotype-associated VAR_023262 phenoCommon Menkes disease (MNKD) [MIM:309400] VAR_023263 commonName VAR_023263 VAR_023263 disease phenotype-associated VAR_023263 phenoCommon Menkes disease (MNKD) [MIM:309400] VAR_023264 commonName VAR_023264 VAR_023264 disease phenotype-associated VAR_023264 phenoCommon Menkes disease (MNKD) [MIM:309400] VAR_023265 commonName VAR_023265 VAR_023265 disease phenotype-associated VAR_023265 phenoCommon Menkes disease (MNKD) [MIM:309400] VAR_023266 commonName VAR_023266 VAR_023266 disease phenotype-associated VAR_023266 phenoCommon Menkes disease (MNKD) [MIM:309400] VAR_023267 commonName VAR_023267 VAR_023267 disease phenotype-associated VAR_023267 phenoCommon Menkes disease (MNKD) [MIM:309400] VAR_023268 commonName VAR_023268 VAR_023268 disease phenotype-associated VAR_023268 phenoCommon Menkes disease (MNKD) [MIM:309400] VAR_023269 commonName VAR_023269 VAR_023269 disease phenotype-associated VAR_023269 phenoCommon Menkes disease (MNKD) [MIM:309400] VAR_023270 commonName VAR_023270 VAR_023270 disease phenotype-associated VAR_023270 phenoCommon Menkes disease (MNKD) [MIM:309400] VAR_023271 commonName VAR_023271 VAR_023271 disease phenotype-associated VAR_023271 phenoCommon Menkes disease (MNKD) [MIM:309400] VAR_023272 commonName VAR_023272 VAR_023272 disease phenotype-associated VAR_023272 phenoCommon Menkes disease (MNKD) [MIM:309400] VAR_023273 commonName VAR_023273 VAR_023273 disease phenotype-associated VAR_023273 phenoCommon Menkes disease (MNKD) [MIM:309400] VAR_023274 commonName VAR_023274 VAR_023274 disease phenotype-associated VAR_023274 phenoCommon Menkes disease (MNKD) [MIM:309400] VAR_023275 commonName VAR_023275 VAR_023275 disease phenotype-associated VAR_023275 phenoCommon Menkes disease (MNKD) [MIM:309400] VAR_023276 commonName VAR_023276 VAR_023276 disease phenotype-associated VAR_023276 phenoCommon Menkes disease (MNKD) [MIM:309400] VAR_023277 commonName VAR_023277 VAR_023277 disease phenotype-associated VAR_023277 phenoCommon Menkes disease (MNKD) [MIM:309400] VAR_023278 commonName VAR_023278 VAR_023278 disease phenotype-associated VAR_023278 phenoCommon Menkes disease (MNKD) [MIM:309400] VAR_023279 commonName VAR_023279 VAR_023279 disease phenotype-associated VAR_023279 phenoCommon Menkes disease (MNKD) [MIM:309400] VAR_023280 commonName VAR_023280 VAR_023280 disease phenotype-associated VAR_023280 phenoCommon Menkes disease (MNKD) [MIM:309400] VAR_023281 commonName VAR_023281 VAR_023281 disease phenotype-associated VAR_023281 phenoCommon Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950] VAR_023283 commonName VAR_023283 VAR_023283 disease not phenotype-associated VAR_023284 commonName VAR_023284 VAR_023284 disease not phenotype-associated VAR_023285 commonName VAR_023285 VAR_023285 disease not phenotype-associated VAR_023286 commonName VAR_023286 VAR_023286 disease not phenotype-associated VAR_023287 commonName VAR_023287 VAR_023287 disease not phenotype-associated VAR_023288 commonName VAR_023288 VAR_023288 disease not phenotype-associated VAR_023289 commonName VAR_023289 VAR_023289 disease not phenotype-associated VAR_023290 commonName VAR_023290 VAR_023290 disease not phenotype-associated VAR_023291 commonName VAR_023291 VAR_023291 disease not phenotype-associated VAR_023292 commonName VAR_023292 VAR_023292 disease not phenotype-associated VAR_023293 commonName VAR_023293 VAR_023293 disease not phenotype-associated VAR_023295 commonName VAR_023295 VAR_023295 disease not phenotype-associated VAR_023296 commonName VAR_023296 VAR_023296 disease not phenotype-associated VAR_023297 commonName VAR_023297 VAR_023297 disease not phenotype-associated VAR_023299 commonName VAR_023299 VAR_023299 disease not phenotype-associated VAR_023300 commonName VAR_023300 VAR_023300 disease not phenotype-associated VAR_023301 commonName VAR_023301 VAR_023301 disease not phenotype-associated VAR_023303 commonName VAR_023303 VAR_023303 disease not phenotype-associated VAR_023304 commonName VAR_023304 VAR_023304 disease not phenotype-associated VAR_023305 commonName VAR_023305 VAR_023305 disease not phenotype-associated VAR_023306 commonName VAR_023306 VAR_023306 disease not phenotype-associated VAR_023307 commonName VAR_023307 VAR_023307 disease not phenotype-associated VAR_023308 commonName VAR_023308 VAR_023308 disease not phenotype-associated VAR_023309 commonName VAR_023309 VAR_023309 disease not phenotype-associated VAR_023310 commonName VAR_023310 VAR_023310 disease not phenotype-associated VAR_023311 commonName VAR_023311 VAR_023311 disease not phenotype-associated VAR_023312 commonName VAR_023312 VAR_023312 disease not phenotype-associated VAR_023313 commonName VAR_023313 VAR_023313 disease not phenotype-associated VAR_023314 commonName VAR_023314 VAR_023314 disease phenotype-associated VAR_023314 phenoCommon Hartnup disorder (HND) [MIM:234500] VAR_023315 commonName VAR_023315 VAR_023315 disease phenotype-associated VAR_023315 phenoCommon Hartnup disorder (HND) [MIM:234500] VAR_023316 commonName VAR_023316 VAR_023316 disease not phenotype-associated VAR_023317 commonName VAR_023317 VAR_023317 disease phenotype-associated VAR_023317 phenoCommon Hartnup disorder (HND) [MIM:234500] VAR_023318 commonName VAR_023318 VAR_023318 disease not phenotype-associated VAR_023319 commonName VAR_023319 VAR_023319 disease phenotype-associated VAR_023319 phenoCommon Hartnup disorder (HND) [MIM:234500] VAR_023320 commonName VAR_023320 VAR_023320 disease phenotype-associated VAR_023320 phenoCommon Autosomal recessive hypercholesterolemia (ARH) [MIM:603813] VAR_023324 commonName VAR_023324 VAR_023324 disease not phenotype-associated VAR_023325 commonName VAR_023325 VAR_023325 disease not phenotype-associated VAR_023326 commonName VAR_023326 VAR_023326 disease not phenotype-associated VAR_023327 commonName VAR_023327 VAR_023327 disease not phenotype-associated VAR_023328 commonName VAR_023328 VAR_023328 disease phenotype-associated VAR_023328 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_023329 commonName VAR_023329 VAR_023329 disease phenotype-associated VAR_023329 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_023330 commonName VAR_023330 VAR_023330 disease phenotype-associated VAR_023330 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_023331 commonName VAR_023331 VAR_023331 disease phenotype-associated VAR_023331 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_023334 commonName VAR_023334 VAR_023334 disease not phenotype-associated VAR_023335 commonName VAR_023335 VAR_023335 disease not phenotype-associated VAR_023336 commonName VAR_023336 VAR_023336 disease not phenotype-associated VAR_023337 commonName VAR_023337 VAR_023337 disease not phenotype-associated VAR_023338 commonName VAR_023338 VAR_023338 disease not phenotype-associated VAR_023339 commonName VAR_023339 VAR_023339 disease not phenotype-associated VAR_023340 commonName VAR_023340 VAR_023340 disease not phenotype-associated VAR_023341 commonName VAR_023341 VAR_023341 disease not phenotype-associated VAR_023342 commonName VAR_023342 VAR_023342 disease not phenotype-associated VAR_023343 commonName VAR_023343 VAR_023343 disease not phenotype-associated VAR_023344 commonName VAR_023344 VAR_023344 disease not phenotype-associated VAR_023345 commonName VAR_023345 VAR_023345 disease not phenotype-associated VAR_023346 commonName VAR_023346 VAR_023346 disease not phenotype-associated VAR_023347 commonName VAR_023347 VAR_023347 disease not phenotype-associated VAR_023348 commonName VAR_023348 VAR_023348 disease not phenotype-associated VAR_023349 commonName VAR_023349 VAR_023349 disease not phenotype-associated VAR_023350 commonName VAR_023350 VAR_023350 disease not phenotype-associated VAR_023351 commonName VAR_023351 VAR_023351 disease not phenotype-associated VAR_023352 commonName VAR_023352 VAR_023352 disease not phenotype-associated VAR_023353 commonName VAR_023353 VAR_023353 disease not phenotype-associated VAR_023354 commonName VAR_023354 VAR_023354 disease not phenotype-associated VAR_023355 commonName VAR_023355 VAR_023355 disease not phenotype-associated VAR_023356 commonName VAR_023356 VAR_023356 disease not phenotype-associated VAR_023357 commonName VAR_023357 VAR_023357 disease not phenotype-associated VAR_023358 commonName VAR_023358 VAR_023358 disease phenotype-associated VAR_023358 phenoCommon Hereditary diffuse gastric cancer (HDGC) [MIM:137215] VAR_023359 commonName VAR_023359 VAR_023359 disease not phenotype-associated VAR_023360 commonName VAR_023360 VAR_023360 disease not phenotype-associated VAR_023361 commonName VAR_023361 VAR_023361 disease not phenotype-associated VAR_023362 commonName VAR_023362 VAR_023362 disease not phenotype-associated VAR_023363 commonName VAR_023363 VAR_023363 disease not phenotype-associated VAR_023364 commonName VAR_023364 VAR_023364 disease phenotype-associated VAR_023364 phenoCommon Congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540] VAR_023365 commonName VAR_023365 VAR_023365 disease phenotype-associated VAR_023365 phenoCommon Congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540] VAR_023366 commonName VAR_023366 VAR_023366 disease phenotype-associated VAR_023366 phenoCommon Congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540] VAR_023368 commonName VAR_023368 VAR_023368 disease not phenotype-associated VAR_023371 commonName VAR_023371 VAR_023371 disease not phenotype-associated VAR_023372 commonName VAR_023372 VAR_023372 disease not phenotype-associated VAR_023373 commonName VAR_023373 VAR_023373 disease not phenotype-associated VAR_023374 commonName VAR_023374 VAR_023374 disease not phenotype-associated VAR_023375 commonName VAR_023375 VAR_023375 disease not phenotype-associated VAR_023376 commonName VAR_023376 VAR_023376 disease not phenotype-associated VAR_023377 commonName VAR_023377 VAR_023377 disease not phenotype-associated VAR_023378 commonName VAR_023378 VAR_023378 disease not phenotype-associated VAR_023379 commonName VAR_023379 VAR_023379 disease not phenotype-associated VAR_023380 commonName VAR_023380 VAR_023380 disease not phenotype-associated VAR_023381 commonName VAR_023381 VAR_023381 disease not phenotype-associated VAR_023382 commonName VAR_023382 VAR_023382 disease not phenotype-associated VAR_023383 commonName VAR_023383 VAR_023383 disease phenotype-associated VAR_023383 phenoCommon Frontotemporal dementia, chromosome 3-linked (FTD3) [MIM:600795] VAR_023385 commonName VAR_023385 VAR_023385 disease not phenotype-associated VAR_023386 commonName VAR_023386 VAR_023386 disease phenotype-associated VAR_023386 phenoCommon Mitochondrial complex V deficiency nuclear type 1 (MC5DN1) [MIM:604273] VAR_023387 commonName VAR_023387 VAR_023387 disease phenotype-associated VAR_023387 phenoCommon Chanarin-Dorfman syndrome (CDS) [MIM:275630] VAR_023388 commonName VAR_023388 VAR_023388 disease phenotype-associated VAR_023388 phenoCommon Chanarin-Dorfman syndrome (CDS) [MIM:275630] VAR_023389 commonName VAR_023389 VAR_023389 disease phenotype-associated VAR_023389 phenoCommon Chanarin-Dorfman syndrome (CDS) [MIM:275630] VAR_023390 commonName VAR_023390 VAR_023390 disease not phenotype-associated VAR_023391 commonName VAR_023391 VAR_023391 disease phenotype-associated VAR_023391 phenoCommon Joubert syndrome type 3 (JBTS3) [MIM:608629] VAR_023392 commonName VAR_023392 VAR_023392 disease not phenotype-associated VAR_023393 commonName VAR_023393 VAR_023393 disease not phenotype-associated VAR_023395 commonName VAR_023395 VAR_023395 disease phenotype-associated VAR_023395 phenoCommon Ethylmalonic encephalopathy (EE) [MIM:602473] VAR_023396 commonName VAR_023396 VAR_023396 disease phenotype-associated VAR_023396 phenoCommon Ethylmalonic encephalopathy (EE) [MIM:602473] VAR_023397 commonName VAR_023397 VAR_023397 disease phenotype-associated VAR_023397 phenoCommon Ethylmalonic encephalopathy (EE) [MIM:602473] VAR_023398 commonName VAR_023398 VAR_023398 disease phenotype-associated VAR_023398 phenoCommon Ethylmalonic encephalopathy (EE) [MIM:602473] VAR_023399 commonName VAR_023399 VAR_023399 disease not phenotype-associated VAR_023400 commonName VAR_023400 VAR_023400 disease not phenotype-associated VAR_023401 commonName VAR_023401 VAR_023401 disease not phenotype-associated VAR_023402 commonName VAR_023402 VAR_023402 disease not phenotype-associated VAR_023404 commonName VAR_023404 VAR_023404 disease not phenotype-associated VAR_023405 commonName VAR_023405 VAR_023405 disease not phenotype-associated VAR_023410 commonName VAR_023410 VAR_023410 disease phenotype-associated VAR_023410 phenoCommon Congenital disorder of glycosylation type 1L (CDG1L) [MIM:608776] VAR_023411 commonName VAR_023411 VAR_023411 disease not phenotype-associated VAR_023414 commonName VAR_023414 VAR_023414 disease not phenotype-associated VAR_023415 commonName VAR_023415 VAR_023415 disease not phenotype-associated VAR_023416 commonName VAR_023416 VAR_023416 disease not phenotype-associated VAR_023417 commonName VAR_023417 VAR_023417 disease not phenotype-associated VAR_023418 commonName VAR_023418 VAR_023418 disease not phenotype-associated VAR_023419 commonName VAR_023419 VAR_023419 disease not phenotype-associated VAR_023420 commonName VAR_023420 VAR_023420 disease not phenotype-associated VAR_023421 commonName VAR_023421 VAR_023421 disease not phenotype-associated VAR_023422 commonName VAR_023422 VAR_023422 disease not phenotype-associated VAR_023423 commonName VAR_023423 VAR_023423 disease not phenotype-associated VAR_023424 commonName VAR_023424 VAR_023424 disease not phenotype-associated VAR_023425 commonName VAR_023425 VAR_023425 disease not phenotype-associated VAR_023428 commonName VAR_023428 VAR_023428 disease not phenotype-associated VAR_023429 commonName VAR_023429 VAR_023429 disease not phenotype-associated VAR_023430 commonName VAR_023430 VAR_023430 disease not phenotype-associated VAR_023431 commonName VAR_023431 VAR_023431 disease not phenotype-associated VAR_023432 commonName VAR_023432 VAR_023432 disease not phenotype-associated VAR_023433 commonName VAR_023433 VAR_023433 disease not phenotype-associated VAR_023434 commonName VAR_023434 VAR_023438 commonName VAR_023438 VAR_023438 disease not phenotype-associated VAR_023439 commonName VAR_023439 VAR_023439 disease not phenotype-associated VAR_023440 commonName VAR_023440 VAR_023440 disease phenotype-associated VAR_023440 phenoCommon Spastic paraplegia autosomal dominant type 6 (SPG6) [MIM:600363] VAR_023441 commonName VAR_023441 VAR_023441 disease phenotype-associated VAR_023441 phenoCommon Spastic paraplegia autosomal dominant type 6 (SPG6) [MIM:600363] VAR_023442 commonName VAR_023442 VAR_023442 disease not phenotype-associated VAR_023443 commonName VAR_023443 VAR_023443 disease not phenotype-associated VAR_023444 commonName VAR_023444 VAR_023444 disease phenotype-associated VAR_023444 phenoCommon Hereditary coproporphyria (HCP) [MIM:121300] VAR_023445 commonName VAR_023445 VAR_023445 disease phenotype-associated VAR_023445 phenoCommon Hereditary coproporphyria (HCP) [MIM:121300] VAR_023446 commonName VAR_023446 VAR_023446 disease phenotype-associated VAR_023446 phenoCommon Hereditary coproporphyria (HCP) [MIM:121300] VAR_023447 commonName VAR_023447 VAR_023447 disease phenotype-associated VAR_023447 phenoCommon Cataract zonular pulverulent cataract type 3 (CZP3) [MIM:601885] VAR_023448 commonName VAR_023448 VAR_023448 disease not phenotype-associated VAR_023449 commonName VAR_023449 VAR_023449 disease not phenotype-associated VAR_023450 commonName VAR_023450 VAR_023450 disease not phenotype-associated VAR_023451 commonName VAR_023451 VAR_023451 disease not phenotype-associated VAR_023452 commonName VAR_023452 VAR_023452 disease not phenotype-associated VAR_023453 commonName VAR_023453 VAR_023453 disease not phenotype-associated VAR_023454 commonName VAR_023454 VAR_023454 disease not phenotype-associated VAR_023455 commonName VAR_023455 VAR_023455 disease not phenotype-associated VAR_023456 commonName VAR_023456 VAR_023456 disease not phenotype-associated VAR_023457 commonName VAR_023457 VAR_023457 disease not phenotype-associated VAR_023459 commonName VAR_023459 VAR_023459 disease not phenotype-associated VAR_023460 commonName VAR_023460 VAR_023460 disease not phenotype-associated VAR_023461 commonName VAR_023461 VAR_023461 disease not phenotype-associated VAR_023462 commonName VAR_023462 VAR_023462 disease not phenotype-associated VAR_023463 commonName VAR_023463 VAR_023463 disease not phenotype-associated VAR_023464 commonName VAR_023464 VAR_023464 disease not phenotype-associated VAR_023465 commonName VAR_023465 VAR_023465 disease not phenotype-associated VAR_023466 commonName VAR_023466 VAR_023466 disease phenotype-associated VAR_023466 phenoCommon Ehlers-Danlos syndrome type 6 (EDS6) [MIM:225400] VAR_023467 commonName VAR_023467 VAR_023467 disease phenotype-associated VAR_023467 phenoCommon Ehlers-Danlos syndrome type 6 (EDS6) [MIM:225400] VAR_023468 commonName VAR_023468 VAR_023468 disease phenotype-associated VAR_023468 phenoCommon Ehlers-Danlos syndrome type 6 (EDS6) [MIM:225400] VAR_023469 commonName VAR_023469 VAR_023469 disease not phenotype-associated VAR_023470 commonName VAR_023470 VAR_023470 disease not phenotype-associated VAR_023471 commonName VAR_023471 VAR_023471 disease phenotype-associated VAR_023471 phenoCommon Methylmalonic aciduria type cblB (MMAB) [MIM:251110] VAR_023472 commonName VAR_023472 VAR_023472 disease not phenotype-associated VAR_023473 commonName VAR_023473 VAR_023473 disease phenotype-associated VAR_023473 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_023474 commonName VAR_023474 VAR_023474 disease phenotype-associated VAR_023474 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_023475 commonName VAR_023475 VAR_023475 disease phenotype-associated VAR_023475 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_023476 commonName VAR_023476 VAR_023476 disease phenotype-associated VAR_023476 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_023477 commonName VAR_023477 VAR_023477 disease phenotype-associated VAR_023477 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_023478 commonName VAR_023478 VAR_023478 disease not phenotype-associated VAR_023479 commonName VAR_023479 VAR_023479 disease not phenotype-associated VAR_023480 commonName VAR_023480 VAR_023480 disease phenotype-associated VAR_023480 phenoCommon Congenital disorder of glycosylation type 1H (CDG1H) [MIM:608104] VAR_023481 commonName VAR_023481 VAR_023481 disease not phenotype-associated VAR_023482 commonName VAR_023482 VAR_023482 disease phenotype-associated VAR_023482 phenoCommon Congenital disorder of glycosylation type 1H (CDG1H) [MIM:608104] VAR_023483 commonName VAR_023483 VAR_023483 disease not phenotype-associated VAR_023484 commonName VAR_023484 VAR_023484 disease not phenotype-associated VAR_023485 commonName VAR_023485 VAR_023485 disease not phenotype-associated VAR_023486 commonName VAR_023486 VAR_023486 disease phenotype-associated VAR_023486 phenoCommon Galactosemia II (GALCT2) [MIM:230200] VAR_023487 commonName VAR_023487 VAR_023487 disease phenotype-associated VAR_023487 phenoCommon Galactosemia II (GALCT2) [MIM:230200] VAR_023488 commonName VAR_023488 VAR_023488 disease phenotype-associated VAR_023488 phenoCommon Galactosemia II (GALCT2) [MIM:230200] VAR_023489 commonName VAR_023489 VAR_023489 disease not phenotype-associated VAR_023490 commonName VAR_023490 VAR_023490 disease phenotype-associated VAR_023490 phenoCommon Galactosemia II (GALCT2) [MIM:230200] VAR_023491 commonName VAR_023491 VAR_023491 disease not phenotype-associated VAR_023492 commonName VAR_023492 VAR_023492 disease phenotype-associated VAR_023492 phenoCommon Galactosemia II (GALCT2) [MIM:230200] VAR_023493 commonName VAR_023493 VAR_023493 disease not phenotype-associated VAR_023494 commonName VAR_023494 VAR_023494 disease phenotype-associated VAR_023494 phenoCommon Galactosemia II (GALCT2) [MIM:230200] VAR_023495 commonName VAR_023495 VAR_023495 disease phenotype-associated VAR_023495 phenoCommon Galactosemia II (GALCT2) [MIM:230200] VAR_023496 commonName VAR_023496 VAR_023496 disease phenotype-associated VAR_023496 phenoCommon Galactosemia II (GALCT2) [MIM:230200] VAR_023497 commonName VAR_023497 VAR_023497 disease phenotype-associated VAR_023497 phenoCommon Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921] VAR_023498 commonName VAR_023498 VAR_023498 disease phenotype-associated VAR_023498 phenoCommon Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921] VAR_023501 commonName VAR_023501 VAR_023501 disease not phenotype-associated VAR_023502 commonName VAR_023502 VAR_023502 disease phenotype-associated VAR_023502 phenoCommon Gallbladder disease type 1 (GBD1) [MIM:600803] VAR_023502 phenoCommon Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480] VAR_023503 commonName VAR_023503 VAR_023503 disease phenotype-associated VAR_023503 phenoCommon Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480] VAR_023504 commonName VAR_023504 VAR_023504 disease phenotype-associated VAR_023504 phenoCommon Gallbladder disease type 1 (GBD1) [MIM:600803] VAR_023505 commonName VAR_023505 VAR_023505 disease phenotype-associated VAR_023505 phenoCommon N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310] VAR_023506 commonName VAR_023506 VAR_023506 disease phenotype-associated VAR_023506 phenoCommon N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310] VAR_023507 commonName VAR_023507 VAR_023507 disease phenotype-associated VAR_023507 phenoCommon N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310] VAR_023508 commonName VAR_023508 VAR_023508 disease phenotype-associated VAR_023508 phenoCommon N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310] VAR_023509 commonName VAR_023509 VAR_023509 disease phenotype-associated VAR_023509 phenoCommon N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310] VAR_023510 commonName VAR_023510 VAR_023510 disease phenotype-associated VAR_023510 phenoCommon N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310] VAR_023511 commonName VAR_023511 VAR_023511 disease phenotype-associated VAR_023511 phenoCommon P5N deficiency (P5ND) [MIM:266120] VAR_023512 commonName VAR_023512 VAR_023512 disease phenotype-associated VAR_023512 phenoCommon P5N deficiency (P5ND) [MIM:266120] VAR_023513 commonName VAR_023513 VAR_023513 disease phenotype-associated VAR_023513 phenoCommon P5N deficiency (P5ND) [MIM:266120] VAR_023514 commonName VAR_023514 VAR_023514 disease phenotype-associated VAR_023514 phenoCommon P5N deficiency (P5ND) [MIM:266120] VAR_023515 commonName VAR_023515 VAR_023515 disease not phenotype-associated VAR_023516 commonName VAR_023516 VAR_023516 disease not phenotype-associated VAR_023517 commonName VAR_023517 VAR_023517 disease not phenotype-associated VAR_023518 commonName VAR_023518 VAR_023518 disease not phenotype-associated VAR_023519 commonName VAR_023519 VAR_023519 disease not phenotype-associated VAR_023520 commonName VAR_023520 VAR_023520 disease not phenotype-associated VAR_023521 commonName VAR_023521 VAR_023521 disease not phenotype-associated VAR_023522 commonName VAR_023522 VAR_023522 disease phenotype-associated VAR_023522 phenoCommon PAPA syndrome (PAPAS) [MIM:604416] VAR_023523 commonName VAR_023523 VAR_023523 disease phenotype-associated VAR_023523 phenoCommon PAPA syndrome (PAPAS) [MIM:604416] VAR_023524 commonName VAR_023524 VAR_023524 disease phenotype-associated VAR_023524 phenoCommon Gnathodiaphyseal dysplasia (GDD) [MIM:166260] VAR_023525 commonName VAR_023525 VAR_023525 disease phenotype-associated VAR_023525 phenoCommon Gnathodiaphyseal dysplasia (GDD) [MIM:166260] VAR_023526 commonName VAR_023526 VAR_023526 disease not phenotype-associated VAR_023527 commonName VAR_023527 VAR_023527 disease not phenotype-associated VAR_023528 commonName VAR_023528 VAR_023528 disease not phenotype-associated VAR_023529 commonName VAR_023529 VAR_023529 disease not phenotype-associated VAR_023530 commonName VAR_023530 VAR_023530 disease not phenotype-associated VAR_023532 commonName VAR_023532 VAR_023532 disease not phenotype-associated VAR_023533 commonName VAR_023533 VAR_023533 disease not phenotype-associated VAR_023534 commonName VAR_023534 VAR_023534 disease not phenotype-associated VAR_023536 commonName VAR_023536 VAR_023536 disease not phenotype-associated VAR_023537 commonName VAR_023537 VAR_023537 disease phenotype-associated VAR_023537 phenoCommon Cardiomyopathy dilated X-linked type 3B (CMD3B) [MIM:302045] VAR_023538 commonName VAR_023538 VAR_023539 commonName VAR_023539 VAR_023539 disease phenotype-associated VAR_023539 phenoCommon Becker muscular dystrophy (BMD) [MIM:300376] VAR_023540 commonName VAR_023540 VAR_023540 disease phenotype-associated VAR_023540 phenoCommon Cardiomyopathy dilated X-linked type 3B (CMD3B) [MIM:302045] VAR_023541 commonName VAR_023541 VAR_023541 disease phenotype-associated VAR_023541 phenoCommon Duchenne muscular dystrophy (DMD) [MIM:310200] VAR_023542 commonName VAR_023542 VAR_023542 disease phenotype-associated VAR_023542 phenoCommon Cardiomyopathy dilated X-linked type 3B (CMD3B) [MIM:302045] VAR_023543 commonName VAR_023543 VAR_023543 disease not phenotype-associated VAR_023548 commonName VAR_023548 VAR_023548 disease not phenotype-associated VAR_023549 commonName VAR_023549 VAR_023549 disease not phenotype-associated VAR_023550 commonName VAR_023550 VAR_023550 disease not phenotype-associated VAR_023552 commonName VAR_023552 VAR_023552 disease phenotype-associated VAR_023552 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_023553 commonName VAR_023553 VAR_023553 disease phenotype-associated VAR_023553 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_023554 commonName VAR_023554 VAR_023554 disease phenotype-associated VAR_023554 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_023555 commonName VAR_023555 VAR_023555 disease phenotype-associated VAR_023555 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_023556 commonName VAR_023556 VAR_023556 disease phenotype-associated VAR_023556 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_023557 commonName VAR_023557 VAR_023557 disease phenotype-associated VAR_023557 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_023558 commonName VAR_023558 VAR_023558 disease phenotype-associated VAR_023558 phenoCommon Rett syndrome (RTT) [MIM:312750] VAR_023559 commonName VAR_023559 VAR_023559 disease not phenotype-associated VAR_023560 commonName VAR_023560 VAR_023560 disease phenotype-associated VAR_023560 phenoCommon Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672] VAR_023561 commonName VAR_023561 VAR_023561 disease phenotype-associated VAR_023561 phenoCommon Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672] VAR_023562 commonName VAR_023562 VAR_023562 disease not phenotype-associated VAR_023563 commonName VAR_023563 VAR_023563 disease not phenotype-associated VAR_023564 commonName VAR_023564 VAR_023564 disease not phenotype-associated VAR_023565 commonName VAR_023565 VAR_023565 disease not phenotype-associated VAR_023566 commonName VAR_023566 VAR_023566 disease not phenotype-associated VAR_023567 commonName VAR_023567 VAR_023567 disease not phenotype-associated VAR_023568 commonName VAR_023568 VAR_023568 disease not phenotype-associated VAR_023569 commonName VAR_023569 VAR_023569 disease phenotype-associated VAR_023569 phenoCommon Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790] VAR_023570 commonName VAR_023570 VAR_023570 disease phenotype-associated VAR_023570 phenoCommon Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950] VAR_023571 commonName VAR_023571 VAR_023571 disease phenotype-associated VAR_023571 phenoCommon Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950] VAR_023572 commonName VAR_023572 VAR_023572 disease phenotype-associated VAR_023572 phenoCommon Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950] VAR_023573 commonName VAR_023573 VAR_023573 disease phenotype-associated VAR_023573 phenoCommon Cerebral cavernous malformations type 1 (CCM1) [MIM:116860] VAR_023575 commonName VAR_023575 VAR_023575 disease not phenotype-associated VAR_023576 commonName VAR_023576 VAR_023576 disease not phenotype-associated VAR_023577 commonName VAR_023577 VAR_023577 disease phenotype-associated VAR_023577 phenoCommon Cerebral cavernous malformations type 2 (CCM2) [MIM:603284] VAR_023578 commonName VAR_023578 VAR_023578 disease not phenotype-associated VAR_023579 commonName VAR_023579 VAR_023579 disease not phenotype-associated VAR_023580 commonName VAR_023580 VAR_023580 disease not phenotype-associated VAR_023581 commonName VAR_023581 VAR_023581 disease phenotype-associated VAR_023581 phenoCommon McLeod syndrome (MLS) [MIM:300842] VAR_023582 commonName VAR_023582 VAR_023582 disease not phenotype-associated VAR_023583 commonName VAR_023583 VAR_023583 disease not phenotype-associated VAR_023584 commonName VAR_023584 VAR_023584 disease not phenotype-associated VAR_023585 commonName VAR_023585 VAR_023585 disease not phenotype-associated VAR_023586 commonName VAR_023586 VAR_023586 disease not phenotype-associated VAR_023587 commonName VAR_023587 VAR_023587 disease not phenotype-associated VAR_023588 commonName VAR_023588 VAR_023588 disease not phenotype-associated VAR_023589 commonName VAR_023589 VAR_023589 disease not phenotype-associated VAR_023590 commonName VAR_023590 VAR_023590 disease not phenotype-associated VAR_023591 commonName VAR_023591 VAR_023591 disease not phenotype-associated VAR_023599 commonName VAR_023599 VAR_023599 disease not phenotype-associated VAR_023600 comment Some hepatocellular carcinoma VAR_023600 commonName VAR_023600 VAR_023601 commonName VAR_023601 VAR_023601 disease not phenotype-associated VAR_023602 commonName VAR_023602 VAR_023602 disease not phenotype-associated VAR_023603 commonName VAR_023603 VAR_023603 disease not phenotype-associated VAR_023604 commonName VAR_023604 VAR_023604 disease phenotype-associated VAR_023604 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_023605 commonName VAR_023605 VAR_023605 disease phenotype-associated VAR_023605 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] VAR_023607 commonName VAR_023607 VAR_023607 disease phenotype-associated VAR_023607 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] VAR_023608 commonName VAR_023608 VAR_023608 disease phenotype-associated VAR_023608 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] VAR_023609 commonName VAR_023609 HbVar.678 phenoCommon Hemoglobin variant VAR_023609 disease phenotype-associated VAR_023609 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] VAR_023611 commonName VAR_023611 VAR_023611 disease phenotype-associated VAR_023611 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] VAR_023612 commonName VAR_023612 VAR_023613 commonName VAR_023613 VAR_023613 disease phenotype-associated VAR_023613 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] VAR_023614 commonName VAR_023614 VAR_023614 disease phenotype-associated VAR_023614 phenoCommon Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544] VAR_023615 commonName VAR_023615 VAR_023615 disease phenotype-associated VAR_023615 phenoCommon Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544] VAR_023616 commonName VAR_023616 VAR_023616 disease phenotype-associated VAR_023616 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] VAR_023617 commonName VAR_023617 VAR_023617 disease phenotype-associated VAR_023617 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] VAR_023618 commonName VAR_023618 VAR_023618 disease not phenotype-associated VAR_023619 commonName VAR_023619 VAR_023619 disease phenotype-associated VAR_023619 phenoCommon Juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770] VAR_023620 commonName VAR_023620 VAR_023620 disease not phenotype-associated VAR_023621 commonName VAR_023621 VAR_023621 disease not phenotype-associated VAR_023622 commonName VAR_023622 VAR_023622 disease phenotype-associated VAR_023622 phenoCommon Juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770] VAR_023623 commonName VAR_023623 VAR_023623 disease phenotype-associated VAR_023623 phenoCommon Juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770] VAR_023624 commonName VAR_023624 VAR_023625 commonName VAR_023625 VAR_023625 disease phenotype-associated VAR_023625 phenoCommon Juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770] VAR_023626 commonName VAR_023626 VAR_023626 disease not phenotype-associated VAR_023627 commonName VAR_023627 VAR_023627 disease not phenotype-associated VAR_023628 commonName VAR_023628 VAR_023629 commonName VAR_023629 VAR_023629 disease phenotype-associated VAR_023629 phenoCommon Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100] VAR_023630 commonName VAR_023630 VAR_023630 disease phenotype-associated VAR_023630 phenoCommon Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100] VAR_023631 commonName VAR_023631 VAR_023631 disease not phenotype-associated VAR_023632 commonName VAR_023632 VAR_023632 disease phenotype-associated VAR_023632 phenoCommon Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100] VAR_023633 commonName VAR_023633 VAR_023634 commonName VAR_023634 VAR_023634 disease phenotype-associated VAR_023634 phenoCommon Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100] VAR_023635 commonName VAR_023635 VAR_023636 commonName VAR_023636 VAR_023636 disease phenotype-associated VAR_023636 phenoCommon Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100] VAR_023637 commonName VAR_023637 VAR_023637 disease not phenotype-associated VAR_023638 commonName VAR_023638 VAR_023638 disease phenotype-associated VAR_023638 phenoCommon Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100] VAR_023643 commonName VAR_023643 VAR_023643 disease phenotype-associated VAR_023643 phenoCommon Mucopolysaccharidosis type 9 (MPS9) [MIM:601492] VAR_023644 commonName VAR_023644 VAR_023644 disease not phenotype-associated VAR_023647 commonName VAR_023647 VAR_023647 disease phenotype-associated VAR_023647 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] VAR_023648 commonName VAR_023648 VAR_023648 disease phenotype-associated VAR_023648 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] VAR_023649 commonName VAR_023649 VAR_023649 disease phenotype-associated VAR_023649 phenoCommon Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] VAR_023650 commonName VAR_023650 VAR_023650 disease phenotype-associated VAR_023650 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] VAR_023651 commonName VAR_023651 VAR_023651 disease not phenotype-associated VAR_023652 commonName VAR_023652 VAR_023652 disease phenotype-associated VAR_023652 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] VAR_023653 commonName VAR_023653 VAR_023653 disease phenotype-associated VAR_023653 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] VAR_023654 commonName VAR_023654 VAR_023654 disease phenotype-associated VAR_023654 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] VAR_023655 commonName VAR_023655 VAR_023655 disease phenotype-associated VAR_023655 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] VAR_023656 commonName VAR_023656 VAR_023656 disease not phenotype-associated VAR_023657 commonName VAR_023657 VAR_023657 disease phenotype-associated VAR_023657 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] VAR_023658 commonName VAR_023658 VAR_023658 disease phenotype-associated VAR_023658 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] VAR_023659 commonName VAR_023659 VAR_023659 disease phenotype-associated VAR_023659 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] VAR_023660 commonName VAR_023660 VAR_023660 disease phenotype-associated VAR_023660 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] VAR_023661 commonName VAR_023661 VAR_023661 disease phenotype-associated VAR_023661 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] VAR_023662 commonName VAR_023662 VAR_023662 disease phenotype-associated VAR_023662 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] VAR_023663 commonName VAR_023663 VAR_023663 disease phenotype-associated VAR_023663 phenoCommon Mitochondrial DNA depletion syndrome type 4B (MTDPS4B) [MIM:613662] VAR_023663 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] VAR_023664 commonName VAR_023664 VAR_023664 disease phenotype-associated VAR_023664 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] VAR_023664 phenoCommon Mitochondrial DNA depletion syndrome type 4B (MTDPS4B) [MIM:613662] VAR_023664 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] VAR_023665 commonName VAR_023665 VAR_023665 disease phenotype-associated VAR_023665 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] VAR_023666 commonName VAR_023666 VAR_023666 disease phenotype-associated VAR_023666 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] VAR_023667 commonName VAR_023667 VAR_023667 disease phenotype-associated VAR_023667 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] VAR_023668 commonName VAR_023668 VAR_023668 disease phenotype-associated VAR_023668 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] VAR_023669 commonName VAR_023669 VAR_023669 disease phenotype-associated VAR_023669 phenoCommon Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] VAR_023670 commonName VAR_023670 VAR_023670 disease phenotype-associated VAR_023670 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] VAR_023671 commonName VAR_023671 VAR_023671 disease phenotype-associated VAR_023671 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] VAR_023671 phenoCommon Mitochondrial DNA depletion syndrome type 4B (MTDPS4B) [MIM:613662] VAR_023671 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] VAR_023672 commonName VAR_023672 VAR_023672 disease phenotype-associated VAR_023672 phenoCommon Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] VAR_023673 commonName VAR_023673 VAR_023673 disease phenotype-associated VAR_023673 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] VAR_023673 phenoCommon Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] VAR_023674 commonName VAR_023674 VAR_023674 disease phenotype-associated VAR_023674 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] VAR_023674 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640] VAR_023675 commonName VAR_023675 VAR_023675 disease phenotype-associated VAR_023675 phenoCommon Leigh syndrome (LS) [MIM:256000] VAR_023675 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] VAR_023675 phenoCommon Mitochondrial DNA depletion syndrome type 4B (MTDPS4B) [MIM:613662] VAR_023675 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] VAR_023676 commonName VAR_023676 VAR_023676 disease phenotype-associated VAR_023676 phenoCommon Mitochondrial DNA depletion syndrome type 4B (MTDPS4B) [MIM:613662] VAR_023677 commonName VAR_023677 VAR_023677 disease phenotype-associated VAR_023677 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] VAR_023678 commonName VAR_023678 VAR_023678 disease phenotype-associated VAR_023678 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640] VAR_023679 commonName VAR_023679 VAR_023679 disease phenotype-associated VAR_023679 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] VAR_023679 phenoCommon Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] VAR_023680 commonName VAR_023680 VAR_023680 disease phenotype-associated VAR_023680 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640] VAR_023681 commonName VAR_023681 VAR_023681 disease phenotype-associated VAR_023681 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640] VAR_023682 commonName VAR_023682 VAR_023682 disease phenotype-associated VAR_023682 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640] VAR_023683 commonName VAR_023683 VAR_023683 disease phenotype-associated VAR_023683 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] VAR_023684 commonName VAR_023684 VAR_023684 disease phenotype-associated VAR_023684 phenoCommon Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] VAR_023685 commonName VAR_023685 VAR_023685 disease phenotype-associated VAR_023685 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] VAR_023686 commonName VAR_023686 VAR_023686 disease phenotype-associated VAR_023686 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] VAR_023687 commonName VAR_023687 VAR_023687 disease phenotype-associated VAR_023687 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] VAR_023688 commonName VAR_023688 VAR_023688 disease phenotype-associated VAR_023688 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] VAR_023689 commonName VAR_023689 VAR_023689 disease phenotype-associated VAR_023689 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] VAR_023690 commonName VAR_023690 VAR_023690 disease phenotype-associated VAR_023690 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640] VAR_023691 commonName VAR_023691 VAR_023691 disease not phenotype-associated VAR_023692 commonName VAR_023692 VAR_023692 disease not phenotype-associated VAR_023693 commonName VAR_023693 VAR_023693 disease not phenotype-associated VAR_023694 commonName VAR_023694 VAR_023694 disease phenotype-associated VAR_023694 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_023695 commonName VAR_023695 VAR_023695 disease phenotype-associated VAR_023695 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_023696 commonName VAR_023696 VAR_023696 disease phenotype-associated VAR_023696 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_023697 commonName VAR_023697 VAR_023697 disease not phenotype-associated VAR_023698 commonName VAR_023698 VAR_023698 disease not phenotype-associated VAR_023700 commonName VAR_023700 VAR_023700 disease phenotype-associated VAR_023700 phenoCommon Fanconi anemia complementation group J (FANCJ) [MIM:609054] VAR_023701 commonName VAR_023701 VAR_023701 disease not phenotype-associated VAR_023702 commonName VAR_023702 VAR_023702 disease phenotype-associated VAR_023702 phenoCommon Fanconi anemia complementation group J (FANCJ) [MIM:609054] VAR_023703 commonName VAR_023703 VAR_023703 disease phenotype-associated VAR_023703 phenoCommon Fanconi anemia complementation group J (FANCJ) [MIM:609054] VAR_023704 commonName VAR_023704 VAR_023704 disease phenotype-associated VAR_023704 phenoCommon Fanconi anemia complementation group J (FANCJ) [MIM:609054] VAR_023705 commonName VAR_023705 VAR_023705 disease not phenotype-associated VAR_023706 commonName VAR_023706 VAR_023706 disease not phenotype-associated VAR_023707 commonName VAR_023707 VAR_023707 disease not phenotype-associated VAR_023708 commonName VAR_023708 VAR_023708 disease not phenotype-associated VAR_023709 commonName VAR_023709 VAR_023709 disease not phenotype-associated VAR_023710 commonName VAR_023710 VAR_023710 disease not phenotype-associated VAR_023711 commonName VAR_023711 VAR_023711 disease not phenotype-associated VAR_023712 commonName VAR_023712 VAR_023712 disease not phenotype-associated VAR_023713 comment A hepatocellular carcinoma sample VAR_023713 commonName VAR_023713 VAR_023714 comment A hepatocellular carcinoma sample VAR_023714 commonName VAR_023714 VAR_023715 comment A hepatocellular carcinoma sample VAR_023715 commonName VAR_023715 VAR_023716 comment A hepatocellular carcinoma sample VAR_023716 commonName VAR_023716 VAR_023717 comment A hepatocellular carcinoma sample VAR_023717 commonName VAR_023717 VAR_023718 commonName VAR_023718 VAR_023718 disease not phenotype-associated VAR_023719 commonName VAR_023719 VAR_023719 disease phenotype-associated VAR_023719 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] VAR_023719 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_023720 commonName VAR_023720 VAR_023720 disease phenotype-associated VAR_023720 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] VAR_023721 commonName VAR_023721 VAR_023721 disease phenotype-associated VAR_023721 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] VAR_023722 commonName VAR_023722 VAR_023722 disease phenotype-associated VAR_023722 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] VAR_023723 commonName VAR_023723 VAR_023723 disease phenotype-associated VAR_023723 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] VAR_023723 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_023724 commonName VAR_023724 VAR_023724 disease phenotype-associated VAR_023724 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_023725 commonName VAR_023725 VAR_023725 disease phenotype-associated VAR_023725 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] VAR_023726 commonName VAR_023726 VAR_023726 disease phenotype-associated VAR_023726 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_023727 commonName VAR_023727 VAR_023727 disease phenotype-associated VAR_023727 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_023728 commonName VAR_023728 VAR_023728 disease phenotype-associated VAR_023728 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] VAR_023737 commonName VAR_023737 VAR_023737 disease phenotype-associated VAR_023737 phenoCommon Familial hypercholanemia (FHCA) [MIM:607748] VAR_023738 commonName VAR_023738 VAR_023738 disease not phenotype-associated VAR_023739 commonName VAR_023739 VAR_023739 disease phenotype-associated VAR_023739 phenoCommon Usher syndrome type 1G (USH1G) [MIM:606943] VAR_023740 commonName VAR_023740 VAR_023740 disease not phenotype-associated VAR_023741 commonName VAR_023741 VAR_023741 disease not phenotype-associated VAR_023742 commonName VAR_023742 VAR_023742 disease not phenotype-associated VAR_023743 commonName VAR_023743 VAR_023743 disease not phenotype-associated VAR_023744 commonName VAR_023744 VAR_023744 disease not phenotype-associated VAR_023745 commonName VAR_023745 VAR_023745 disease not phenotype-associated VAR_023746 commonName VAR_023746 VAR_023746 disease not phenotype-associated VAR_023747 commonName VAR_023747 VAR_023747 disease not phenotype-associated VAR_023748 commonName VAR_023748 VAR_023748 disease not phenotype-associated VAR_023749 commonName VAR_023749 VAR_023749 disease not phenotype-associated VAR_023750 commonName VAR_023750 VAR_023750 disease not phenotype-associated VAR_023751 commonName VAR_023751 VAR_023751 disease not phenotype-associated VAR_023752 commonName VAR_023752 VAR_023752 disease not phenotype-associated VAR_023753 commonName VAR_023753 VAR_023754 commonName VAR_023754 VAR_023754 disease phenotype-associated VAR_023754 phenoCommon Leukodystrophy hypomyelinating type 2 (HLD2) [MIM:608804] VAR_023755 commonName VAR_023755 VAR_023755 disease phenotype-associated VAR_023755 phenoCommon Leukodystrophy hypomyelinating type 2 (HLD2) [MIM:608804] VAR_023756 commonName VAR_023756 VAR_023756 disease phenotype-associated VAR_023756 phenoCommon Leukodystrophy hypomyelinating type 2 (HLD2) [MIM:608804] VAR_023757 commonName VAR_023757 VAR_023757 disease not phenotype-associated VAR_023760 commonName VAR_023760 VAR_023761 commonName VAR_023761 VAR_023761 disease not phenotype-associated VAR_023764 commonName VAR_023764 VAR_023764 disease not phenotype-associated VAR_023765 commonName VAR_023765 VAR_023766 commonName VAR_023766 VAR_023766 disease not phenotype-associated VAR_023767 commonName VAR_023767 VAR_023767 disease not phenotype-associated VAR_023768 commonName VAR_023768 VAR_023768 disease not phenotype-associated VAR_023770 commonName VAR_023770 VAR_023770 disease phenotype-associated VAR_023770 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000] VAR_023771 commonName VAR_023771 VAR_023771 disease phenotype-associated VAR_023771 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000] VAR_023772 commonName VAR_023772 VAR_023772 disease not phenotype-associated VAR_023773 commonName VAR_023773 VAR_023773 disease not phenotype-associated VAR_023774 commonName VAR_023774 VAR_023774 disease not phenotype-associated VAR_023775 commonName VAR_023775 VAR_023775 disease not phenotype-associated VAR_023776 commonName VAR_023776 VAR_023776 disease not phenotype-associated VAR_023777 commonName VAR_023777 VAR_023777 disease not phenotype-associated VAR_023778 commonName VAR_023778 VAR_023778 disease not phenotype-associated VAR_023779 commonName VAR_023779 VAR_023779 disease not phenotype-associated VAR_023782 commonName VAR_023782 VAR_023782 disease not phenotype-associated VAR_023783 commonName VAR_023783 VAR_023783 disease not phenotype-associated VAR_023784 commonName VAR_023784 VAR_023784 disease phenotype-associated VAR_023784 phenoCommon Pre-eclampsia/eclampsia 4 (PEE4) [MIM:609404] VAR_023785 commonName VAR_023785 VAR_023785 disease phenotype-associated VAR_023785 phenoCommon Pre-eclampsia/eclampsia 4 (PEE4) [MIM:609404] VAR_023786 commonName VAR_023786 VAR_023786 disease not phenotype-associated VAR_023787 commonName VAR_023787 VAR_023787 disease phenotype-associated VAR_023787 phenoCommon Pre-eclampsia/eclampsia 4 (PEE4) [MIM:609404] VAR_023788 commonName VAR_023788 VAR_023788 disease phenotype-associated VAR_023788 phenoCommon Familial scaphocephaly syndrome (FSPC) [MIM:609579] VAR_023789 commonName VAR_023789 VAR_023789 disease phenotype-associated VAR_023789 phenoCommon Mitochondrial DNA depletion syndrome type 3 (MTDPS3) [MIM:251880] VAR_023790 commonName VAR_023790 VAR_023790 disease phenotype-associated VAR_023790 phenoCommon Mitochondrial DNA depletion syndrome type 2 (MTDPS2) [MIM:609560] VAR_023793 commonName VAR_023793 VAR_023793 disease phenotype-associated VAR_023793 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637] VAR_023794 commonName VAR_023794 VAR_023794 disease phenotype-associated VAR_023794 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637] VAR_023797 commonName VAR_023797 VAR_023797 disease phenotype-associated VAR_023797 phenoCommon Holoprosencephaly type 2 (HPE2) [MIM:157170] VAR_023798 commonName VAR_023798 VAR_023798 disease phenotype-associated VAR_023798 phenoCommon Holoprosencephaly type 2 (HPE2) [MIM:157170] VAR_023799 commonName VAR_023799 VAR_023799 disease phenotype-associated VAR_023799 phenoCommon Holoprosencephaly type 2 (HPE2) [MIM:157170] VAR_023800 commonName VAR_023800 VAR_023800 disease phenotype-associated VAR_023800 phenoCommon Holoprosencephaly type 2 (HPE2) [MIM:157170] VAR_023801 commonName VAR_023801 VAR_023801 disease phenotype-associated VAR_023801 phenoCommon Holoprosencephaly type 2 (HPE2) [MIM:157170] VAR_023802 commonName VAR_023802 VAR_023802 disease phenotype-associated VAR_023802 phenoCommon Holoprosencephaly type 2 (HPE2) [MIM:157170] VAR_023803 commonName VAR_023803 VAR_023803 disease phenotype-associated VAR_023803 phenoCommon Holoprosencephaly type 4 (HPE4) [MIM:142946] VAR_023804 commonName VAR_023804 VAR_023804 disease phenotype-associated VAR_023804 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_023806 commonName VAR_023806 VAR_023806 disease phenotype-associated VAR_023806 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_023807 commonName VAR_023807 VAR_023807 disease phenotype-associated VAR_023807 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_023809 commonName VAR_023809 VAR_023809 disease phenotype-associated VAR_023809 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_023810 commonName VAR_023810 VAR_023810 disease phenotype-associated VAR_023810 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_023810 phenoCommon Solitary median maxillary central incisor (SMMCI) [MIM:147250] VAR_023811 commonName VAR_023811 VAR_023811 disease phenotype-associated VAR_023811 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_023812 commonName VAR_023812 VAR_023812 disease phenotype-associated VAR_023812 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_023814 commonName VAR_023814 VAR_023814 disease phenotype-associated VAR_023814 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 8 (ARVD8) [MIM:607450] VAR_023815 commonName VAR_023815 VAR_023815 disease not phenotype-associated VAR_023816 commonName VAR_023816 VAR_023816 disease phenotype-associated VAR_023816 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 8 (ARVD8) [MIM:607450] VAR_023817 commonName VAR_023817 HbVar.679 protEffect HBD 137(H14) Gly>Asp VAR_023817 disease phenotype-associated VAR_023817 phenoCommon Majeed syndrome (MAJEEDS) [MIM:609628] VAR_023819 commonName VAR_023819 VAR_023819 disease phenotype-associated VAR_023819 phenoCommon Brachydactyly type A2 (BDA2) [MIM:112600] VAR_023820 commonName VAR_023820 VAR_023820 disease phenotype-associated VAR_023820 phenoCommon Brachydactyly type A2 (BDA2) [MIM:112600] VAR_023821 commonName VAR_023821 VAR_023821 disease phenotype-associated VAR_023821 phenoCommon Generalized epilepsy and paroxysmal dyskinesia (GEPD) [MIM:609446] VAR_023822 commonName VAR_023822 VAR_023822 disease phenotype-associated VAR_023822 phenoCommon Sarcoidosis early-onset (EOS) [MIM:609464] VAR_023823 commonName VAR_023823 VAR_023823 disease phenotype-associated VAR_023823 phenoCommon Blau syndrome (BS) [MIM:186580] VAR_023824 commonName VAR_023824 VAR_023824 disease phenotype-associated VAR_023824 phenoCommon Sarcoidosis early-onset (EOS) [MIM:609464] VAR_023825 commonName VAR_023825 VAR_023825 disease phenotype-associated VAR_023825 phenoCommon Mental retardation X-linked type 30 (MRX30) [MIM:300558] VAR_023826 commonName VAR_023826 VAR_023826 disease phenotype-associated VAR_023826 phenoCommon Mental retardation X-linked type 30 (MRX30) [MIM:300558] VAR_023827 commonName VAR_023827 VAR_023827 disease phenotype-associated VAR_023827 phenoCommon Testicular germ cell tumor (TGCT) [MIM:273300] VAR_023828 comment Acute myeloid leukemia VAR_023828 commonName VAR_023828 VAR_023829 comment A germ cell tumor of the testis VAR_023829 commonName VAR_023829 VAR_023830 comment A germ cell tumor of the testis VAR_023830 commonName VAR_023830 VAR_023831 commonName VAR_023831 VAR_023831 disease phenotype-associated VAR_023831 phenoCommon Hyperphosphatemic familial tumoral calcinosis (HFTC) [MIM:211900] VAR_023832 commonName VAR_023832 VAR_023832 disease not phenotype-associated VAR_023833 commonName VAR_023833 VAR_023833 disease not phenotype-associated VAR_023834 commonName VAR_023834 VAR_023834 disease not phenotype-associated VAR_023835 commonName VAR_023835 VAR_023835 disease not phenotype-associated VAR_023836 commonName VAR_023836 VAR_023836 disease not phenotype-associated VAR_023837 commonName VAR_023837 VAR_023837 disease not phenotype-associated VAR_023838 commonName VAR_023838 VAR_023838 disease not phenotype-associated VAR_023839 commonName VAR_023839 VAR_023839 disease not phenotype-associated VAR_023840 commonName VAR_023840 VAR_023840 disease phenotype-associated VAR_023840 phenoCommon Short QT syndrome type 1 (SQT1) [MIM:609620] VAR_023841 commonName VAR_023841 VAR_023841 disease phenotype-associated VAR_023841 phenoCommon Short QT syndrome type 2 (SQT2) [MIM:609621] VAR_023842 commonName VAR_023842 VAR_023842 disease phenotype-associated VAR_023842 phenoCommon Short QT syndrome type 3 (SQT3) [MIM:609622] VAR_023843 commonName VAR_023843 VAR_023843 disease phenotype-associated VAR_023843 phenoCommon Propionic acidemia type I (PA-1) [MIM:606054] VAR_023844 commonName VAR_023844 VAR_023844 disease phenotype-associated VAR_023844 phenoCommon Propionic acidemia type I (PA-1) [MIM:606054] VAR_023846 commonName VAR_023846 VAR_023846 disease not phenotype-associated VAR_023847 commonName VAR_023847 VAR_023847 disease phenotype-associated VAR_023847 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054] VAR_023848 commonName VAR_023848 VAR_023848 disease phenotype-associated VAR_023848 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054] VAR_023849 commonName VAR_023849 VAR_023849 disease phenotype-associated VAR_023849 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054] VAR_023850 commonName VAR_023850 VAR_023850 disease phenotype-associated VAR_023850 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054] VAR_023851 commonName VAR_023851 VAR_023851 disease phenotype-associated VAR_023851 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054] VAR_023852 commonName VAR_023852 VAR_023852 disease phenotype-associated VAR_023852 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054] VAR_023853 commonName VAR_023853 VAR_023853 disease phenotype-associated VAR_023853 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054] VAR_023855 commonName VAR_023855 VAR_023855 disease phenotype-associated VAR_023855 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054] VAR_023856 commonName VAR_023856 VAR_023856 disease phenotype-associated VAR_023856 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054] VAR_023857 commonName VAR_023857 VAR_023857 disease phenotype-associated VAR_023857 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054] VAR_023858 commonName VAR_023858 VAR_023858 disease phenotype-associated VAR_023858 phenoCommon Propionic acidemia type II (PA-2) [MIM:606054] VAR_023916 commonName VAR_023916 VAR_023916 disease not phenotype-associated VAR_023917 comment A Burkitt lymphoma cell line VAR_023917 commonName VAR_023917 VAR_023918 comment A primary colorectal tumor VAR_023918 commonName VAR_023918 VAR_023919 commonName VAR_023919 VAR_023919 disease not phenotype-associated VAR_023920 commonName VAR_023920 VAR_023920 disease not phenotype-associated VAR_023921 commonName VAR_023921 VAR_023921 disease not phenotype-associated VAR_023922 commonName VAR_023922 VAR_023924 commonName VAR_023924 VAR_023924 disease phenotype-associated VAR_023924 phenoCommon White sponge nevus of cannon (WSN) [MIM:193900] VAR_023925 commonName VAR_023925 VAR_023925 disease phenotype-associated VAR_023925 phenoCommon Rhegmatogenous retinal detachment autosomal dominant (DRRD) [MIM:609508] VAR_023926 commonName VAR_023926 VAR_023927 commonName VAR_023927 VAR_023927 disease phenotype-associated VAR_023927 phenoCommon Stickler syndrome type 1 (STL1) [MIM:108300] VAR_023928 commonName VAR_023928 VAR_023928 disease phenotype-associated VAR_023928 phenoCommon Rhegmatogenous retinal detachment autosomal dominant (DRRD) [MIM:609508] VAR_023929 commonName VAR_023929 VAR_023929 disease phenotype-associated VAR_023929 phenoCommon Primary avascular necrosis of femoral head (ANFH) [MIM:608805] VAR_023930 commonName VAR_023930 VAR_023930 disease phenotype-associated VAR_023930 phenoCommon Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] VAR_023931 commonName VAR_023931 VAR_023931 disease phenotype-associated VAR_023931 phenoCommon Spondyloepimetaphyseal dysplasia Strudwick type (SEMD-STR) [MIM:184250] VAR_023932 commonName VAR_023932 VAR_023932 disease phenotype-associated VAR_023932 phenoCommon Spondyloepimetaphyseal dysplasia Strudwick type (SEMD-STR) [MIM:184250] VAR_023933 commonName VAR_023933 VAR_023933 disease phenotype-associated VAR_023933 phenoCommon Primary avascular necrosis of femoral head (ANFH) [MIM:608805] VAR_023934 commonName VAR_023934 VAR_023935 commonName VAR_023935 VAR_023935 disease phenotype-associated VAR_023935 phenoCommon Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210] VAR_023936 commonName VAR_023936 VAR_023936 disease not phenotype-associated VAR_023937 commonName VAR_023937 VAR_023937 disease not phenotype-associated VAR_023938 commonName VAR_023938 VAR_023938 disease not phenotype-associated VAR_023939 commonName VAR_023939 VAR_023939 disease not phenotype-associated VAR_023940 commonName VAR_023940 VAR_023940 disease not phenotype-associated VAR_023941 commonName VAR_023941 VAR_023941 disease not phenotype-associated VAR_023942 commonName VAR_023942 VAR_023942 disease not phenotype-associated VAR_023943 commonName VAR_023943 VAR_023943 disease not phenotype-associated VAR_023944 commonName VAR_023944 VAR_023944 disease not phenotype-associated VAR_023945 commonName VAR_023945 VAR_023945 disease not phenotype-associated VAR_023946 commonName VAR_023946 VAR_023946 disease not phenotype-associated VAR_023948 commonName VAR_023948 VAR_023948 disease not phenotype-associated VAR_023953 commonName VAR_023953 VAR_023953 disease not phenotype-associated VAR_023954 commonName VAR_023954 VAR_023954 disease not phenotype-associated VAR_023955 commonName VAR_023955 VAR_023955 disease not phenotype-associated VAR_023956 commonName VAR_023956 VAR_023956 disease not phenotype-associated VAR_023958 commonName VAR_023958 VAR_023958 disease phenotype-associated VAR_023958 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_023960 commonName VAR_023960 VAR_023960 disease not phenotype-associated VAR_023961 commonName VAR_023961 VAR_023961 disease not phenotype-associated VAR_023962 commonName VAR_023962 VAR_023962 disease not phenotype-associated VAR_023963 commonName VAR_023963 VAR_023963 disease not phenotype-associated VAR_023964 commonName VAR_023964 VAR_023964 disease not phenotype-associated VAR_023965 commonName VAR_023965 VAR_023965 disease not phenotype-associated VAR_023966 commonName VAR_023966 VAR_023966 disease not phenotype-associated VAR_023967 commonName VAR_023967 VAR_023967 disease not phenotype-associated VAR_023968 commonName VAR_023968 VAR_023968 disease not phenotype-associated VAR_023969 commonName VAR_023969 VAR_023969 disease not phenotype-associated VAR_023970 commonName VAR_023970 VAR_023970 disease not phenotype-associated VAR_023971 commonName VAR_023971 VAR_023971 disease not phenotype-associated VAR_023972 commonName VAR_023972 VAR_023972 disease not phenotype-associated VAR_023973 commonName VAR_023973 VAR_023973 disease not phenotype-associated VAR_023974 commonName VAR_023974 VAR_023974 disease not phenotype-associated VAR_023976 commonName VAR_023976 VAR_023976 disease not phenotype-associated VAR_023977 commonName VAR_023977 VAR_023977 disease not phenotype-associated VAR_023978 commonName VAR_023978 VAR_023978 disease not phenotype-associated VAR_023979 commonName VAR_023979 VAR_023979 disease not phenotype-associated VAR_023980 commonName VAR_023980 VAR_023980 disease not phenotype-associated VAR_023981 commonName VAR_023981 VAR_023981 disease not phenotype-associated VAR_023982 commonName VAR_023982 VAR_023982 disease not phenotype-associated VAR_023983 commonName VAR_023983 VAR_023983 disease not phenotype-associated VAR_023984 commonName VAR_023984 VAR_023984 disease not phenotype-associated VAR_023985 commonName VAR_023985 VAR_023985 disease not phenotype-associated VAR_023986 commonName VAR_023986 VAR_023986 disease not phenotype-associated VAR_023987 commonName VAR_023987 VAR_023987 disease not phenotype-associated VAR_023988 commonName VAR_023988 VAR_023988 disease not phenotype-associated VAR_023989 commonName VAR_023989 VAR_023989 disease not phenotype-associated VAR_023990 commonName VAR_023990 VAR_023990 disease not phenotype-associated VAR_023991 commonName VAR_023991 VAR_023991 disease not phenotype-associated VAR_023995 commonName VAR_023995 VAR_023995 disease not phenotype-associated VAR_023996 commonName VAR_023996 VAR_023996 disease not phenotype-associated VAR_023997 commonName VAR_023997 VAR_023997 disease not phenotype-associated VAR_023998 commonName VAR_023998 VAR_023998 disease not phenotype-associated VAR_023999 commonName VAR_023999 VAR_023999 disease not phenotype-associated VAR_024000 commonName VAR_024000 VAR_024000 disease not phenotype-associated VAR_024001 commonName VAR_024001 VAR_024001 disease not phenotype-associated VAR_024002 commonName VAR_024002 VAR_024002 disease not phenotype-associated VAR_024003 commonName VAR_024003 VAR_024003 disease not phenotype-associated VAR_024004 commonName VAR_024004 VAR_024004 disease not phenotype-associated VAR_024005 commonName VAR_024005 VAR_024005 disease not phenotype-associated VAR_024006 commonName VAR_024006 VAR_024006 disease not phenotype-associated VAR_024007 commonName VAR_024007 VAR_024007 disease not phenotype-associated VAR_024008 commonName VAR_024008 VAR_024008 disease not phenotype-associated VAR_024009 commonName VAR_024009 VAR_024009 disease phenotype-associated VAR_024009 phenoCommon Cardiomyopathy dilated type 1C (CMD1C) [MIM:601493] VAR_024010 commonName VAR_024010 VAR_024010 disease phenotype-associated VAR_024010 phenoCommon Cardiomyopathy dilated type 1C (CMD1C) [MIM:601493] VAR_024011 commonName VAR_024011 VAR_024011 disease phenotype-associated VAR_024011 phenoCommon Cardiomyopathy dilated type 1C (CMD1C) [MIM:601493] VAR_024014 comment One EMPD primary tumor VAR_024014 commonName VAR_024014 VAR_024015 commonName VAR_024015 VAR_024015 disease phenotype-associated VAR_024015 phenoCommon Charcot-Marie-Tooth disease type 1C (CMT1C) [MIM:601098] VAR_024016 commonName VAR_024016 VAR_024016 disease not phenotype-associated VAR_024017 commonName VAR_024017 VAR_024017 disease phenotype-associated VAR_024017 phenoCommon Charcot-Marie-Tooth disease type 1C (CMT1C) [MIM:601098] VAR_024018 commonName VAR_024018 VAR_024018 disease phenotype-associated VAR_024018 phenoCommon Charcot-Marie-Tooth disease type 1C (CMT1C) [MIM:601098] VAR_024019 commonName VAR_024019 VAR_024019 disease phenotype-associated VAR_024019 phenoCommon Charcot-Marie-Tooth disease type 1C (CMT1C) [MIM:601098] VAR_024020 commonName VAR_024020 VAR_024020 disease phenotype-associated VAR_024020 phenoCommon Charcot-Marie-Tooth disease type 1C (CMT1C) [MIM:601098] VAR_024021 commonName VAR_024021 VAR_024021 disease not phenotype-associated VAR_024022 commonName VAR_024022 VAR_024022 disease not phenotype-associated VAR_024023 commonName VAR_024023 VAR_024023 disease not phenotype-associated VAR_024024 commonName VAR_024024 VAR_024024 disease phenotype-associated VAR_024024 phenoCommon Transposition of the great arteries dextro-looped type 1 (DTGA1) [MIM:608808] VAR_024025 commonName VAR_024025 VAR_024025 disease phenotype-associated VAR_024025 phenoCommon Transposition of the great arteries dextro-looped type 1 (DTGA1) [MIM:608808] VAR_024026 commonName VAR_024026 VAR_024026 disease phenotype-associated VAR_024026 phenoCommon Transposition of the great arteries dextro-looped type 1 (DTGA1) [MIM:608808] VAR_024027 commonName VAR_024027 VAR_024027 disease phenotype-associated VAR_024027 phenoCommon Immunodeficiency common variable type 2 (CVID2) [MIM:240500] VAR_024027 phenoCommon Immunoglobulin A deficiency 2 (IGAD2) [MIM:609529] VAR_024028 commonName VAR_024028 VAR_024028 disease phenotype-associated VAR_024028 phenoCommon Immunodeficiency common variable type 2 (CVID2) [MIM:240500] VAR_024029 commonName VAR_024029 VAR_024029 disease phenotype-associated VAR_024029 phenoCommon Immunodeficiency common variable type 2 (CVID2) [MIM:240500] VAR_024030 commonName VAR_024030 VAR_024030 disease phenotype-associated VAR_024030 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067] VAR_024031 commonName VAR_024031 VAR_024031 disease phenotype-associated VAR_024031 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067] VAR_024032 commonName VAR_024032 VAR_024032 disease phenotype-associated VAR_024032 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067] VAR_024033 commonName VAR_024033 VAR_024033 disease phenotype-associated VAR_024033 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067] VAR_024033 phenoCommon Usher syndrome type 1D/F (USH1DF) [MIM:601067] VAR_024034 commonName VAR_024034 VAR_024034 disease phenotype-associated VAR_024034 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067] VAR_024035 commonName VAR_024035 VAR_024035 disease phenotype-associated VAR_024035 phenoCommon Deafness autosomal recessive type 23 (DFNB23) [MIM:609533] VAR_024036 commonName VAR_024036 VAR_024036 disease phenotype-associated VAR_024036 phenoCommon Deafness autosomal recessive type 23 (DFNB23) [MIM:609533] VAR_024037 commonName VAR_024037 VAR_024037 disease phenotype-associated VAR_024037 phenoCommon Usher syndrome type 1F (USH1F) [MIM:602083] VAR_024039 commonName VAR_024039 VAR_024039 disease phenotype-associated VAR_024039 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_024040 commonName VAR_024040 VAR_024040 disease phenotype-associated VAR_024040 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_024041 commonName VAR_024041 VAR_024041 disease phenotype-associated VAR_024041 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_024042 commonName VAR_024042 VAR_024042 disease phenotype-associated VAR_024042 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_024043 commonName VAR_024043 VAR_024043 disease phenotype-associated VAR_024043 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_024044 commonName VAR_024044 VAR_024044 disease phenotype-associated VAR_024044 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_024046 commonName VAR_024046 VAR_024046 disease phenotype-associated VAR_024046 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_024047 commonName VAR_024047 VAR_024047 disease phenotype-associated VAR_024047 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_024048 commonName VAR_024048 VAR_024048 disease phenotype-associated VAR_024048 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_024049 commonName VAR_024049 VAR_024049 disease phenotype-associated VAR_024049 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_024051 commonName VAR_024051 VAR_024051 disease phenotype-associated VAR_024051 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_024052 commonName VAR_024052 VAR_024052 disease phenotype-associated VAR_024052 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_024053 commonName VAR_024053 VAR_024053 disease phenotype-associated VAR_024053 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_024054 commonName VAR_024054 VAR_024054 disease phenotype-associated VAR_024054 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_024055 commonName VAR_024055 VAR_024055 disease phenotype-associated VAR_024055 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_024056 commonName VAR_024056 VAR_024056 disease not phenotype-associated VAR_024057 commonName VAR_024057 VAR_024057 disease not phenotype-associated VAR_024059 commonName VAR_024059 VAR_024059 disease not phenotype-associated VAR_024060 commonName VAR_024060 VAR_024060 disease not phenotype-associated VAR_024061 comment A rhabdomyosarcoma sample VAR_024061 commonName VAR_024061 VAR_024062 commonName VAR_024062 VAR_024062 disease phenotype-associated VAR_024062 phenoCommon Lung cancer (LNCR) [MIM:211980] VAR_024063 commonName VAR_024063 VAR_024063 disease not phenotype-associated VAR_024065 commonName VAR_024065 VAR_024065 disease not phenotype-associated VAR_024066 commonName VAR_024066 VAR_024066 disease not phenotype-associated VAR_024067 commonName VAR_024067 VAR_024067 disease not phenotype-associated VAR_024068 commonName VAR_024068 VAR_024068 disease not phenotype-associated VAR_024069 commonName VAR_024069 VAR_024069 disease not phenotype-associated VAR_024070 commonName VAR_024070 VAR_024070 disease not phenotype-associated VAR_024072 commonName VAR_024072 VAR_024072 disease not phenotype-associated VAR_024073 commonName VAR_024073 VAR_024073 disease not phenotype-associated VAR_024074 commonName VAR_024074 VAR_024074 disease not phenotype-associated VAR_024075 commonName VAR_024075 VAR_024075 disease not phenotype-associated VAR_024076 commonName VAR_024076 VAR_024076 disease not phenotype-associated VAR_024077 commonName VAR_024077 VAR_024077 disease not phenotype-associated VAR_024078 commonName VAR_024078 VAR_024078 disease not phenotype-associated VAR_024079 commonName VAR_024079 VAR_024079 disease phenotype-associated VAR_024079 phenoCommon 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530] VAR_024080 commonName VAR_024080 VAR_024080 disease phenotype-associated VAR_024080 phenoCommon 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530] VAR_024081 commonName VAR_024081 VAR_024081 disease phenotype-associated VAR_024081 phenoCommon Familial hyperinsulinemic hypoglycemia type 4 (HHF4) [MIM:609975] VAR_024082 commonName VAR_024082 VAR_024082 disease phenotype-associated VAR_024082 phenoCommon Familial isolated hyperparathyroidism (FIHP) [MIM:145000] VAR_024083 commonName VAR_024083 VAR_024083 disease not phenotype-associated VAR_024084 commonName VAR_024084 VAR_024084 disease not phenotype-associated VAR_024085 commonName VAR_024085 VAR_024085 disease not phenotype-associated VAR_024086 commonName VAR_024086 VAR_024086 disease not phenotype-associated VAR_024087 commonName VAR_024087 VAR_024087 disease not phenotype-associated VAR_024088 commonName VAR_024088 VAR_024088 disease not phenotype-associated VAR_024089 commonName VAR_024089 VAR_024089 disease not phenotype-associated VAR_024090 commonName VAR_024090 VAR_024090 disease not phenotype-associated VAR_024091 commonName VAR_024091 VAR_024091 disease not phenotype-associated VAR_024092 commonName VAR_024092 VAR_024092 disease not phenotype-associated VAR_024093 commonName VAR_024093 VAR_024093 disease not phenotype-associated VAR_024094 commonName VAR_024094 VAR_024094 disease not phenotype-associated VAR_024095 commonName VAR_024095 VAR_024095 disease not phenotype-associated VAR_024096 commonName VAR_024096 VAR_024096 disease not phenotype-associated VAR_024097 commonName VAR_024097 VAR_024097 disease not phenotype-associated VAR_024098 commonName VAR_024098 VAR_024098 disease not phenotype-associated VAR_024099 commonName VAR_024099 VAR_024099 disease not phenotype-associated VAR_024100 commonName VAR_024100 VAR_024100 disease not phenotype-associated VAR_024101 commonName VAR_024101 VAR_024101 disease not phenotype-associated VAR_024102 commonName VAR_024102 VAR_024102 disease not phenotype-associated VAR_024103 commonName VAR_024103 VAR_024103 disease not phenotype-associated VAR_024104 commonName VAR_024104 VAR_024104 disease not phenotype-associated VAR_024105 commonName VAR_024105 VAR_024105 disease not phenotype-associated VAR_024106 commonName VAR_024106 VAR_024106 disease not phenotype-associated VAR_024107 commonName VAR_024107 VAR_024107 disease not phenotype-associated VAR_024108 commonName VAR_024108 VAR_024108 disease not phenotype-associated VAR_024109 commonName VAR_024109 VAR_024109 disease not phenotype-associated VAR_024110 commonName VAR_024110 VAR_024110 disease not phenotype-associated VAR_024111 commonName VAR_024111 VAR_024111 disease not phenotype-associated VAR_024112 commonName VAR_024112 VAR_024112 disease not phenotype-associated VAR_024113 commonName VAR_024113 VAR_024113 disease not phenotype-associated VAR_024114 commonName VAR_024114 VAR_024114 disease not phenotype-associated VAR_024115 commonName VAR_024115 VAR_024115 disease not phenotype-associated VAR_024116 commonName VAR_024116 VAR_024116 disease not phenotype-associated VAR_024117 commonName VAR_024117 VAR_024117 disease not phenotype-associated VAR_024118 commonName VAR_024118 VAR_024118 disease not phenotype-associated VAR_024119 commonName VAR_024119 VAR_024119 disease not phenotype-associated VAR_024120 commonName VAR_024120 VAR_024120 disease not phenotype-associated VAR_024121 commonName VAR_024121 VAR_024121 disease not phenotype-associated VAR_024122 commonName VAR_024122 VAR_024122 disease not phenotype-associated VAR_024123 commonName VAR_024123 VAR_024123 disease not phenotype-associated VAR_024124 commonName VAR_024124 VAR_024124 disease not phenotype-associated VAR_024125 commonName VAR_024125 VAR_024125 disease not phenotype-associated VAR_024126 commonName VAR_024126 VAR_024126 disease not phenotype-associated VAR_024127 commonName VAR_024127 VAR_024127 disease not phenotype-associated VAR_024128 commonName VAR_024128 VAR_024128 disease not phenotype-associated VAR_024129 commonName VAR_024129 VAR_024129 disease not phenotype-associated VAR_024130 commonName VAR_024130 VAR_024130 disease not phenotype-associated VAR_024131 commonName VAR_024131 VAR_024131 disease not phenotype-associated VAR_024132 commonName VAR_024132 VAR_024132 disease not phenotype-associated VAR_024133 commonName VAR_024133 VAR_024133 disease not phenotype-associated VAR_024134 commonName VAR_024134 VAR_024134 disease not phenotype-associated VAR_024135 commonName VAR_024135 VAR_024135 disease not phenotype-associated VAR_024136 commonName VAR_024136 VAR_024136 disease not phenotype-associated VAR_024137 commonName VAR_024137 VAR_024137 disease not phenotype-associated VAR_024138 commonName VAR_024138 VAR_024138 disease not phenotype-associated VAR_024139 commonName VAR_024139 VAR_024139 disease not phenotype-associated VAR_024140 commonName VAR_024140 VAR_024140 disease not phenotype-associated VAR_024141 commonName VAR_024141 VAR_024141 disease not phenotype-associated VAR_024142 commonName VAR_024142 VAR_024142 disease not phenotype-associated VAR_024143 commonName VAR_024143 VAR_024143 disease not phenotype-associated VAR_024144 commonName VAR_024144 VAR_024144 disease not phenotype-associated VAR_024145 commonName VAR_024145 VAR_024145 disease not phenotype-associated VAR_024146 commonName VAR_024146 VAR_024146 disease not phenotype-associated VAR_024147 commonName VAR_024147 VAR_024147 disease not phenotype-associated VAR_024148 commonName VAR_024148 VAR_024148 disease not phenotype-associated VAR_024149 commonName VAR_024149 VAR_024149 disease not phenotype-associated VAR_024150 commonName VAR_024150 VAR_024150 disease not phenotype-associated VAR_024151 commonName VAR_024151 VAR_024151 disease not phenotype-associated VAR_024152 commonName VAR_024152 VAR_024152 disease not phenotype-associated VAR_024153 commonName VAR_024153 VAR_024153 disease not phenotype-associated VAR_024154 commonName VAR_024154 VAR_024154 disease not phenotype-associated VAR_024155 commonName VAR_024155 VAR_024155 disease not phenotype-associated VAR_024156 commonName VAR_024156 VAR_024156 disease not phenotype-associated VAR_024157 commonName VAR_024157 VAR_024157 disease not phenotype-associated VAR_024158 commonName VAR_024158 VAR_024158 disease not phenotype-associated VAR_024160 commonName VAR_024160 VAR_024160 disease not phenotype-associated VAR_024161 commonName VAR_024161 VAR_024161 disease not phenotype-associated VAR_024162 commonName VAR_024162 VAR_024162 disease not phenotype-associated VAR_024163 commonName VAR_024163 VAR_024163 disease not phenotype-associated VAR_024168 commonName VAR_024168 VAR_024168 disease not phenotype-associated VAR_024169 commonName VAR_024169 VAR_024169 disease not phenotype-associated VAR_024170 commonName VAR_024170 VAR_024170 disease not phenotype-associated VAR_024172 commonName VAR_024172 VAR_024172 disease not phenotype-associated VAR_024173 commonName VAR_024173 VAR_024173 disease not phenotype-associated VAR_024174 commonName VAR_024174 VAR_024174 disease not phenotype-associated VAR_024175 commonName VAR_024175 VAR_024175 disease not phenotype-associated VAR_024176 commonName VAR_024176 VAR_024176 disease not phenotype-associated VAR_024177 commonName VAR_024177 VAR_024177 disease not phenotype-associated VAR_024178 commonName VAR_024178 VAR_024178 disease not phenotype-associated VAR_024179 commonName VAR_024179 VAR_024179 disease not phenotype-associated VAR_024180 commonName VAR_024180 VAR_024180 disease not phenotype-associated VAR_024181 commonName VAR_024181 VAR_024181 disease not phenotype-associated VAR_024182 commonName VAR_024182 VAR_024182 disease not phenotype-associated VAR_024183 commonName VAR_024183 VAR_024183 disease not phenotype-associated VAR_024184 commonName VAR_024184 VAR_024184 disease not phenotype-associated VAR_024185 commonName VAR_024185 VAR_024185 disease not phenotype-associated VAR_024186 commonName VAR_024186 VAR_024186 disease not phenotype-associated VAR_024187 commonName VAR_024187 VAR_024187 disease not phenotype-associated VAR_024188 commonName VAR_024188 VAR_024188 disease not phenotype-associated VAR_024189 commonName VAR_024189 VAR_024189 disease not phenotype-associated VAR_024190 commonName VAR_024190 VAR_024190 disease not phenotype-associated VAR_024191 commonName VAR_024191 VAR_024191 disease not phenotype-associated VAR_024192 commonName VAR_024192 VAR_024192 disease not phenotype-associated VAR_024193 commonName VAR_024193 VAR_024193 disease not phenotype-associated VAR_024194 commonName VAR_024194 VAR_024194 disease not phenotype-associated VAR_024195 commonName VAR_024195 VAR_024195 disease not phenotype-associated VAR_024196 commonName VAR_024196 VAR_024196 disease not phenotype-associated VAR_024197 commonName VAR_024197 VAR_024197 disease not phenotype-associated VAR_024198 commonName VAR_024198 VAR_024198 disease not phenotype-associated VAR_024199 commonName VAR_024199 VAR_024199 disease not phenotype-associated VAR_024200 commonName VAR_024200 VAR_024200 disease not phenotype-associated VAR_024201 commonName VAR_024201 VAR_024201 disease not phenotype-associated VAR_024202 commonName VAR_024202 VAR_024202 disease not phenotype-associated VAR_024203 commonName VAR_024203 VAR_024203 disease not phenotype-associated VAR_024204 commonName VAR_024204 VAR_024204 disease not phenotype-associated VAR_024205 commonName VAR_024205 VAR_024205 disease not phenotype-associated VAR_024206 commonName VAR_024206 VAR_024206 disease not phenotype-associated VAR_024207 commonName VAR_024207 VAR_024207 disease not phenotype-associated VAR_024208 commonName VAR_024208 VAR_024208 disease not phenotype-associated VAR_024209 commonName VAR_024209 VAR_024209 disease not phenotype-associated VAR_024210 commonName VAR_024210 VAR_024210 disease not phenotype-associated VAR_024211 commonName VAR_024211 VAR_024211 disease not phenotype-associated VAR_024212 commonName VAR_024212 VAR_024212 disease not phenotype-associated VAR_024213 commonName VAR_024213 VAR_024213 disease not phenotype-associated VAR_024214 commonName VAR_024214 VAR_024214 disease not phenotype-associated VAR_024215 commonName VAR_024215 VAR_024215 disease not phenotype-associated VAR_024217 commonName VAR_024217 VAR_024217 disease not phenotype-associated VAR_024218 commonName VAR_024218 VAR_024218 disease not phenotype-associated VAR_024219 commonName VAR_024219 VAR_024219 disease not phenotype-associated VAR_024220 commonName VAR_024220 VAR_024220 disease not phenotype-associated VAR_024221 commonName VAR_024221 VAR_024221 disease not phenotype-associated VAR_024222 commonName VAR_024222 VAR_024222 disease not phenotype-associated VAR_024223 commonName VAR_024223 VAR_024223 disease not phenotype-associated VAR_024224 commonName VAR_024224 VAR_024224 disease not phenotype-associated VAR_024225 commonName VAR_024225 VAR_024225 disease not phenotype-associated VAR_024226 commonName VAR_024226 VAR_024226 disease not phenotype-associated VAR_024227 commonName VAR_024227 VAR_024227 disease not phenotype-associated VAR_024228 commonName VAR_024228 VAR_024228 disease not phenotype-associated VAR_024229 commonName VAR_024229 VAR_024229 disease not phenotype-associated VAR_024230 commonName VAR_024230 VAR_024230 disease not phenotype-associated VAR_024231 commonName VAR_024231 VAR_024231 disease not phenotype-associated VAR_024232 commonName VAR_024232 VAR_024232 disease not phenotype-associated VAR_024233 commonName VAR_024233 VAR_024233 disease not phenotype-associated VAR_024234 commonName VAR_024234 VAR_024234 disease not phenotype-associated VAR_024235 commonName VAR_024235 VAR_024235 disease not phenotype-associated VAR_024236 commonName VAR_024236 VAR_024236 disease not phenotype-associated VAR_024237 commonName VAR_024237 VAR_024237 disease not phenotype-associated VAR_024238 commonName VAR_024238 VAR_024238 disease not phenotype-associated VAR_024239 commonName VAR_024239 VAR_024239 disease not phenotype-associated VAR_024240 commonName VAR_024240 VAR_024240 disease not phenotype-associated VAR_024241 commonName VAR_024241 VAR_024241 disease not phenotype-associated VAR_024242 commonName VAR_024242 VAR_024242 disease not phenotype-associated VAR_024243 commonName VAR_024243 VAR_024243 disease not phenotype-associated VAR_024244 commonName VAR_024244 VAR_024244 disease not phenotype-associated VAR_024245 commonName VAR_024245 VAR_024245 disease not phenotype-associated VAR_024248 commonName VAR_024248 VAR_024248 disease not phenotype-associated VAR_024250 commonName VAR_024250 VAR_024250 disease not phenotype-associated VAR_024251 commonName VAR_024251 VAR_024251 disease not phenotype-associated VAR_024252 commonName VAR_024252 VAR_024252 disease not phenotype-associated VAR_024253 commonName VAR_024253 VAR_024253 disease not phenotype-associated VAR_024254 commonName VAR_024254 VAR_024254 disease not phenotype-associated VAR_024255 commonName VAR_024255 VAR_024255 disease not phenotype-associated VAR_024256 commonName VAR_024256 VAR_024256 disease not phenotype-associated VAR_024257 commonName VAR_024257 VAR_024257 disease not phenotype-associated VAR_024258 commonName VAR_024258 VAR_024258 disease not phenotype-associated VAR_024259 commonName VAR_024259 VAR_024259 disease not phenotype-associated VAR_024260 commonName VAR_024260 VAR_024260 disease not phenotype-associated VAR_024261 commonName VAR_024261 VAR_024261 disease not phenotype-associated VAR_024262 commonName VAR_024262 VAR_024262 disease not phenotype-associated VAR_024263 commonName VAR_024263 VAR_024263 disease not phenotype-associated VAR_024264 commonName VAR_024264 VAR_024264 disease not phenotype-associated VAR_024265 commonName VAR_024265 VAR_024265 disease not phenotype-associated VAR_024266 commonName VAR_024266 VAR_024266 disease not phenotype-associated VAR_024267 commonName VAR_024267 VAR_024267 disease not phenotype-associated VAR_024268 commonName VAR_024268 VAR_024268 disease not phenotype-associated VAR_024269 commonName VAR_024269 VAR_024269 disease not phenotype-associated VAR_024271 commonName VAR_024271 VAR_024271 disease not phenotype-associated VAR_024272 commonName VAR_024272 VAR_024272 disease not phenotype-associated VAR_024277 commonName VAR_024277 VAR_024277 disease not phenotype-associated VAR_024278 commonName VAR_024278 VAR_024278 disease not phenotype-associated VAR_024279 commonName VAR_024279 VAR_024279 disease not phenotype-associated VAR_024280 commonName VAR_024280 VAR_024280 disease not phenotype-associated VAR_024281 commonName VAR_024281 VAR_024281 disease not phenotype-associated VAR_024282 commonName VAR_024282 VAR_024282 disease not phenotype-associated VAR_024283 commonName VAR_024283 VAR_024283 disease not phenotype-associated VAR_024284 commonName VAR_024284 VAR_024284 disease not phenotype-associated VAR_024285 commonName VAR_024285 VAR_024285 disease not phenotype-associated VAR_024286 commonName VAR_024286 VAR_024286 disease not phenotype-associated VAR_024287 commonName VAR_024287 VAR_024287 disease not phenotype-associated VAR_024288 commonName VAR_024288 VAR_024288 disease not phenotype-associated VAR_024289 commonName VAR_024289 VAR_024289 disease not phenotype-associated VAR_024290 commonName VAR_024290 VAR_024290 disease not phenotype-associated VAR_024291 commonName VAR_024291 VAR_024291 disease not phenotype-associated VAR_024292 commonName VAR_024292 VAR_024292 disease not phenotype-associated VAR_024293 commonName VAR_024293 VAR_024293 disease not phenotype-associated VAR_024294 commonName VAR_024294 VAR_024294 disease not phenotype-associated VAR_024295 commonName VAR_024295 VAR_024295 disease not phenotype-associated VAR_024296 commonName VAR_024296 VAR_024296 disease not phenotype-associated VAR_024297 commonName VAR_024297 VAR_024297 disease not phenotype-associated VAR_024298 commonName VAR_024298 VAR_024298 disease not phenotype-associated VAR_024299 commonName VAR_024299 VAR_024299 disease not phenotype-associated VAR_024300 commonName VAR_024300 VAR_024300 disease not phenotype-associated VAR_024301 commonName VAR_024301 VAR_024301 disease not phenotype-associated VAR_024302 commonName VAR_024302 VAR_024302 disease not phenotype-associated VAR_024303 commonName VAR_024303 VAR_024303 disease not phenotype-associated VAR_024306 commonName VAR_024306 VAR_024306 disease not phenotype-associated VAR_024307 commonName VAR_024307 VAR_024307 disease not phenotype-associated VAR_024308 commonName VAR_024308 VAR_024308 disease not phenotype-associated VAR_024309 commonName VAR_024309 VAR_024309 disease not phenotype-associated VAR_024310 commonName VAR_024310 VAR_024310 disease not phenotype-associated VAR_024311 commonName VAR_024311 VAR_024311 disease not phenotype-associated VAR_024312 commonName VAR_024312 VAR_024312 disease not phenotype-associated VAR_024313 commonName VAR_024313 VAR_024313 disease not phenotype-associated VAR_024314 commonName VAR_024314 VAR_024314 disease not phenotype-associated VAR_024315 commonName VAR_024315 VAR_024315 disease not phenotype-associated VAR_024316 commonName VAR_024316 VAR_024316 disease not phenotype-associated VAR_024317 commonName VAR_024317 VAR_024317 disease not phenotype-associated VAR_024318 commonName VAR_024318 VAR_024318 disease not phenotype-associated VAR_024319 commonName VAR_024319 VAR_024319 disease not phenotype-associated VAR_024320 commonName VAR_024320 VAR_024320 disease not phenotype-associated VAR_024322 commonName VAR_024322 VAR_024322 disease not phenotype-associated VAR_024323 commonName VAR_024323 VAR_024323 disease phenotype-associated VAR_024323 phenoCommon Visceral heterotaxy autosomal type 2 (HTX2) [MIM:605376] VAR_024324 commonName VAR_024324 VAR_024324 disease not phenotype-associated VAR_024325 commonName VAR_024325 VAR_024325 disease not phenotype-associated VAR_024326 commonName VAR_024326 VAR_024326 disease not phenotype-associated VAR_024327 commonName VAR_024327 VAR_024327 disease not phenotype-associated VAR_024328 commonName VAR_024328 VAR_024328 disease not phenotype-associated VAR_024329 commonName VAR_024329 VAR_024329 disease not phenotype-associated VAR_024330 commonName VAR_024330 VAR_024330 disease not phenotype-associated VAR_024331 commonName VAR_024331 VAR_024331 disease not phenotype-associated VAR_024332 commonName VAR_024332 VAR_024332 disease not phenotype-associated VAR_024333 commonName VAR_024333 VAR_024333 disease not phenotype-associated VAR_024334 commonName VAR_024334 VAR_024334 disease not phenotype-associated VAR_024335 commonName VAR_024335 VAR_024335 disease not phenotype-associated VAR_024336 commonName VAR_024336 VAR_024336 disease not phenotype-associated VAR_024337 commonName VAR_024337 VAR_024337 disease not phenotype-associated VAR_024338 commonName VAR_024338 VAR_024338 disease not phenotype-associated VAR_024341 commonName VAR_024341 VAR_024341 disease not phenotype-associated VAR_024342 commonName VAR_024342 VAR_024342 disease not phenotype-associated VAR_024343 commonName VAR_024343 VAR_024343 disease not phenotype-associated VAR_024344 commonName VAR_024344 VAR_024344 disease not phenotype-associated VAR_024345 commonName VAR_024345 VAR_024345 disease not phenotype-associated VAR_024346 commonName VAR_024346 VAR_024346 disease not phenotype-associated VAR_024347 commonName VAR_024347 VAR_024347 disease not phenotype-associated VAR_024348 commonName VAR_024348 VAR_024348 disease not phenotype-associated VAR_024349 commonName VAR_024349 VAR_024349 disease not phenotype-associated VAR_024350 commonName VAR_024350 VAR_024350 disease not phenotype-associated VAR_024351 commonName VAR_024351 VAR_024351 disease not phenotype-associated VAR_024352 commonName VAR_024352 VAR_024352 disease not phenotype-associated VAR_024353 commonName VAR_024353 VAR_024353 disease not phenotype-associated VAR_024354 commonName VAR_024354 VAR_024354 disease not phenotype-associated VAR_024355 commonName VAR_024355 VAR_024355 disease not phenotype-associated VAR_024357 commonName VAR_024357 VAR_024357 disease not phenotype-associated VAR_024358 commonName VAR_024358 VAR_024358 disease not phenotype-associated VAR_024359 commonName VAR_024359 VAR_024359 disease not phenotype-associated VAR_024360 commonName VAR_024360 VAR_024360 disease not phenotype-associated VAR_024361 commonName VAR_024361 VAR_024361 disease not phenotype-associated VAR_024362 commonName VAR_024362 VAR_024362 disease not phenotype-associated VAR_024363 commonName VAR_024363 VAR_024363 disease not phenotype-associated VAR_024364 commonName VAR_024364 VAR_024364 disease not phenotype-associated VAR_024365 commonName VAR_024365 VAR_024365 disease not phenotype-associated VAR_024366 commonName VAR_024366 VAR_024366 disease not phenotype-associated VAR_024367 commonName VAR_024367 VAR_024367 disease not phenotype-associated VAR_024368 commonName VAR_024368 VAR_024368 disease not phenotype-associated VAR_024369 commonName VAR_024369 VAR_024369 disease not phenotype-associated VAR_024370 commonName VAR_024370 VAR_024370 disease not phenotype-associated VAR_024371 commonName VAR_024371 VAR_024371 disease not phenotype-associated VAR_024372 commonName VAR_024372 VAR_024372 disease not phenotype-associated VAR_024373 commonName VAR_024373 VAR_024373 disease not phenotype-associated VAR_024374 commonName VAR_024374 VAR_024374 disease not phenotype-associated VAR_024375 commonName VAR_024375 VAR_024375 disease not phenotype-associated VAR_024376 commonName VAR_024376 VAR_024376 disease not phenotype-associated VAR_024377 commonName VAR_024377 VAR_024377 disease not phenotype-associated VAR_024379 commonName VAR_024379 VAR_024379 disease not phenotype-associated VAR_024380 commonName VAR_024380 VAR_024380 disease not phenotype-associated VAR_024381 commonName VAR_024381 VAR_024381 disease not phenotype-associated VAR_024383 commonName VAR_024383 VAR_024383 disease not phenotype-associated VAR_024385 commonName VAR_024385 VAR_024385 disease not phenotype-associated VAR_024386 commonName VAR_024386 VAR_024386 disease not phenotype-associated VAR_024387 commonName VAR_024387 VAR_024387 disease not phenotype-associated VAR_024388 commonName VAR_024388 VAR_024388 disease not phenotype-associated VAR_024389 commonName VAR_024389 VAR_024389 disease not phenotype-associated VAR_024390 commonName VAR_024390 VAR_024390 disease not phenotype-associated VAR_024391 commonName VAR_024391 VAR_024391 disease not phenotype-associated VAR_024392 commonName VAR_024392 VAR_024392 disease not phenotype-associated VAR_024393 commonName VAR_024393 VAR_024393 disease not phenotype-associated VAR_024394 commonName VAR_024394 VAR_024394 disease not phenotype-associated VAR_024395 commonName VAR_024395 VAR_024395 disease not phenotype-associated VAR_024396 commonName VAR_024396 VAR_024396 disease not phenotype-associated VAR_024397 commonName VAR_024397 VAR_024397 disease not phenotype-associated VAR_024398 commonName VAR_024398 VAR_024398 disease not phenotype-associated VAR_024400 commonName VAR_024400 VAR_024400 disease not phenotype-associated VAR_024401 commonName VAR_024401 VAR_024401 disease not phenotype-associated VAR_024402 commonName VAR_024402 VAR_024402 disease not phenotype-associated VAR_024403 commonName VAR_024403 VAR_024403 disease not phenotype-associated VAR_024404 commonName VAR_024404 VAR_024404 disease not phenotype-associated VAR_024405 commonName VAR_024405 VAR_024405 disease not phenotype-associated VAR_024406 commonName VAR_024406 VAR_024406 disease not phenotype-associated VAR_024407 commonName VAR_024407 VAR_024407 disease not phenotype-associated VAR_024408 commonName VAR_024408 VAR_024408 disease not phenotype-associated VAR_024409 commonName VAR_024409 VAR_024409 disease not phenotype-associated VAR_024410 commonName VAR_024410 VAR_024410 disease not phenotype-associated VAR_024411 commonName VAR_024411 VAR_024411 disease not phenotype-associated VAR_024412 commonName VAR_024412 VAR_024412 disease not phenotype-associated VAR_024413 commonName VAR_024413 VAR_024413 disease not phenotype-associated VAR_024414 commonName VAR_024414 VAR_024414 disease not phenotype-associated VAR_024415 commonName VAR_024415 VAR_024415 disease not phenotype-associated VAR_024416 commonName VAR_024416 VAR_024416 disease not phenotype-associated VAR_024417 commonName VAR_024417 VAR_024417 disease not phenotype-associated VAR_024418 commonName VAR_024418 VAR_024418 disease not phenotype-associated VAR_024419 commonName VAR_024419 VAR_024419 disease not phenotype-associated VAR_024420 commonName VAR_024420 VAR_024420 disease not phenotype-associated VAR_024421 commonName VAR_024421 VAR_024421 disease not phenotype-associated VAR_024422 commonName VAR_024422 VAR_024422 disease not phenotype-associated VAR_024423 commonName VAR_024423 VAR_024423 disease not phenotype-associated VAR_024424 commonName VAR_024424 VAR_024424 disease not phenotype-associated VAR_024425 commonName VAR_024425 VAR_024425 disease not phenotype-associated VAR_024426 commonName VAR_024426 VAR_024426 disease not phenotype-associated VAR_024427 commonName VAR_024427 VAR_024427 disease not phenotype-associated VAR_024428 commonName VAR_024428 VAR_024428 disease not phenotype-associated VAR_024429 commonName VAR_024429 VAR_024429 disease not phenotype-associated VAR_024430 commonName VAR_024430 VAR_024430 disease not phenotype-associated VAR_024431 commonName VAR_024431 VAR_024431 disease not phenotype-associated VAR_024432 commonName VAR_024432 VAR_024432 disease not phenotype-associated VAR_024433 commonName VAR_024433 VAR_024433 disease not phenotype-associated VAR_024434 commonName VAR_024434 VAR_024434 disease not phenotype-associated VAR_024435 commonName VAR_024435 VAR_024435 disease not phenotype-associated VAR_024436 commonName VAR_024436 VAR_024436 disease not phenotype-associated VAR_024437 commonName VAR_024437 VAR_024437 disease not phenotype-associated VAR_024438 commonName VAR_024438 VAR_024438 disease not phenotype-associated VAR_024439 commonName VAR_024439 VAR_024439 disease not phenotype-associated VAR_024440 commonName VAR_024440 VAR_024440 disease not phenotype-associated VAR_024441 commonName VAR_024441 VAR_024441 disease not phenotype-associated VAR_024442 commonName VAR_024442 VAR_024442 disease not phenotype-associated VAR_024443 commonName VAR_024443 VAR_024443 disease not phenotype-associated VAR_024444 commonName VAR_024444 VAR_024444 disease not phenotype-associated VAR_024445 commonName VAR_024445 VAR_024445 disease not phenotype-associated VAR_024446 commonName VAR_024446 VAR_024446 disease not phenotype-associated VAR_024447 commonName VAR_024447 VAR_024447 disease not phenotype-associated VAR_024448 commonName VAR_024448 VAR_024448 disease not phenotype-associated VAR_024449 commonName VAR_024449 VAR_024449 disease not phenotype-associated VAR_024450 commonName VAR_024450 VAR_024450 disease not phenotype-associated VAR_024451 commonName VAR_024451 VAR_024451 disease not phenotype-associated VAR_024452 commonName VAR_024452 VAR_024452 disease not phenotype-associated VAR_024453 commonName VAR_024453 VAR_024453 disease not phenotype-associated VAR_024454 commonName VAR_024454 VAR_024454 disease not phenotype-associated VAR_024455 commonName VAR_024455 VAR_024455 disease not phenotype-associated VAR_024456 commonName VAR_024456 VAR_024456 disease not phenotype-associated VAR_024457 commonName VAR_024457 VAR_024457 disease not phenotype-associated VAR_024458 commonName VAR_024458 VAR_024458 disease not phenotype-associated VAR_024459 commonName VAR_024459 VAR_024459 disease not phenotype-associated VAR_024460 commonName VAR_024460 VAR_024460 disease not phenotype-associated VAR_024461 commonName VAR_024461 VAR_024461 disease not phenotype-associated VAR_024462 commonName VAR_024462 VAR_024462 disease not phenotype-associated VAR_024463 commonName VAR_024463 VAR_024463 disease not phenotype-associated VAR_024464 commonName VAR_024464 VAR_024464 disease not phenotype-associated VAR_024465 commonName VAR_024465 VAR_024465 disease not phenotype-associated VAR_024466 commonName VAR_024466 VAR_024466 disease not phenotype-associated VAR_024468 commonName VAR_024468 VAR_024468 disease not phenotype-associated VAR_024471 commonName VAR_024471 VAR_024471 disease not phenotype-associated VAR_024472 commonName VAR_024472 VAR_024472 disease not phenotype-associated VAR_024473 commonName VAR_024473 VAR_024473 disease not phenotype-associated VAR_024474 commonName VAR_024474 VAR_024474 disease not phenotype-associated VAR_024475 commonName VAR_024475 VAR_024475 disease not phenotype-associated VAR_024476 commonName VAR_024476 VAR_024476 disease not phenotype-associated VAR_024477 commonName VAR_024477 VAR_024477 disease not phenotype-associated VAR_024478 commonName VAR_024478 VAR_024478 disease not phenotype-associated VAR_024479 commonName VAR_024479 VAR_024479 disease not phenotype-associated VAR_024480 commonName VAR_024480 VAR_024480 disease not phenotype-associated VAR_024481 commonName VAR_024481 VAR_024481 disease not phenotype-associated VAR_024482 commonName VAR_024482 VAR_024482 disease not phenotype-associated VAR_024483 commonName VAR_024483 VAR_024483 disease not phenotype-associated VAR_024484 commonName VAR_024484 VAR_024484 disease not phenotype-associated VAR_024485 commonName VAR_024485 VAR_024485 disease not phenotype-associated VAR_024487 commonName VAR_024487 VAR_024487 disease not phenotype-associated VAR_024488 commonName VAR_024488 VAR_024488 disease not phenotype-associated VAR_024489 commonName VAR_024489 VAR_024489 disease not phenotype-associated VAR_024490 commonName VAR_024490 VAR_024490 disease not phenotype-associated VAR_024491 commonName VAR_024491 VAR_024491 disease not phenotype-associated VAR_024492 commonName VAR_024492 VAR_024492 disease not phenotype-associated VAR_024493 commonName VAR_024493 VAR_024493 disease not phenotype-associated VAR_024494 commonName VAR_024494 VAR_024494 disease not phenotype-associated VAR_024495 commonName VAR_024495 VAR_024495 disease not phenotype-associated VAR_024496 commonName VAR_024496 VAR_024496 disease not phenotype-associated VAR_024497 commonName VAR_024497 VAR_024497 disease not phenotype-associated VAR_024499 commonName VAR_024499 VAR_024499 disease not phenotype-associated VAR_024501 commonName VAR_024501 VAR_024501 disease not phenotype-associated VAR_024502 commonName VAR_024502 VAR_024502 disease not phenotype-associated VAR_024503 commonName VAR_024503 VAR_024503 disease not phenotype-associated VAR_024504 commonName VAR_024504 VAR_024504 disease not phenotype-associated VAR_024505 commonName VAR_024505 VAR_024505 disease not phenotype-associated VAR_024506 commonName VAR_024506 VAR_024506 disease not phenotype-associated VAR_024508 commonName VAR_024508 VAR_024508 disease not phenotype-associated VAR_024509 commonName VAR_024509 VAR_024509 disease not phenotype-associated VAR_024510 commonName VAR_024510 VAR_024510 disease not phenotype-associated VAR_024511 commonName VAR_024511 VAR_024511 disease not phenotype-associated VAR_024512 commonName VAR_024512 VAR_024512 disease not phenotype-associated VAR_024513 commonName VAR_024513 VAR_024513 disease not phenotype-associated VAR_024514 commonName VAR_024514 VAR_024514 disease not phenotype-associated VAR_024515 commonName VAR_024515 VAR_024515 disease not phenotype-associated VAR_024516 commonName VAR_024516 VAR_024516 disease not phenotype-associated VAR_024517 commonName VAR_024517 VAR_024517 disease not phenotype-associated VAR_024518 commonName VAR_024518 VAR_024518 disease not phenotype-associated VAR_024519 commonName VAR_024519 VAR_024519 disease not phenotype-associated VAR_024520 commonName VAR_024520 VAR_024520 disease not phenotype-associated VAR_024521 commonName VAR_024521 VAR_024521 disease not phenotype-associated VAR_024522 commonName VAR_024522 VAR_024522 disease not phenotype-associated VAR_024526 commonName VAR_024526 VAR_024526 disease not phenotype-associated VAR_024527 commonName VAR_024527 VAR_024527 disease not phenotype-associated VAR_024528 commonName VAR_024528 VAR_024528 disease not phenotype-associated VAR_024529 commonName VAR_024529 VAR_024529 disease not phenotype-associated VAR_024530 commonName VAR_024530 VAR_024530 disease not phenotype-associated VAR_024531 commonName VAR_024531 VAR_024531 disease not phenotype-associated VAR_024532 commonName VAR_024532 VAR_024532 disease not phenotype-associated VAR_024533 commonName VAR_024533 VAR_024533 disease not phenotype-associated VAR_024534 commonName VAR_024534 VAR_024534 disease not phenotype-associated VAR_024535 commonName VAR_024535 VAR_024535 disease not phenotype-associated VAR_024536 commonName VAR_024536 VAR_024536 disease not phenotype-associated VAR_024537 commonName VAR_024537 VAR_024537 disease not phenotype-associated VAR_024539 commonName VAR_024539 VAR_024539 disease not phenotype-associated VAR_024540 commonName VAR_024540 VAR_024540 disease not phenotype-associated VAR_024541 commonName VAR_024541 VAR_024541 disease not phenotype-associated VAR_024542 commonName VAR_024542 VAR_024542 disease not phenotype-associated VAR_024543 commonName VAR_024543 VAR_024543 disease not phenotype-associated VAR_024544 commonName VAR_024544 VAR_024544 disease not phenotype-associated VAR_024545 commonName VAR_024545 VAR_024545 disease not phenotype-associated VAR_024546 commonName VAR_024546 VAR_024546 disease not phenotype-associated VAR_024547 commonName VAR_024547 VAR_024547 disease not phenotype-associated VAR_024548 commonName VAR_024548 VAR_024548 disease not phenotype-associated VAR_024549 commonName VAR_024549 VAR_024549 disease not phenotype-associated VAR_024551 commonName VAR_024551 VAR_024551 disease not phenotype-associated VAR_024552 commonName VAR_024552 VAR_024552 disease not phenotype-associated VAR_024553 commonName VAR_024553 VAR_024553 disease not phenotype-associated VAR_024554 commonName VAR_024554 VAR_024554 disease not phenotype-associated VAR_024555 commonName VAR_024555 VAR_024555 disease not phenotype-associated VAR_024556 commonName VAR_024556 VAR_024556 disease not phenotype-associated VAR_024557 commonName VAR_024557 VAR_024557 disease not phenotype-associated VAR_024559 commonName VAR_024559 VAR_024559 disease not phenotype-associated VAR_024560 commonName VAR_024560 VAR_024560 disease not phenotype-associated VAR_024561 commonName VAR_024561 VAR_024561 disease not phenotype-associated VAR_024562 commonName VAR_024562 VAR_024562 disease not phenotype-associated VAR_024563 commonName VAR_024563 VAR_024563 disease not phenotype-associated VAR_024564 commonName VAR_024564 VAR_024564 disease not phenotype-associated VAR_024565 commonName VAR_024565 VAR_024565 disease not phenotype-associated VAR_024566 commonName VAR_024566 VAR_024566 disease not phenotype-associated VAR_024567 commonName VAR_024567 VAR_024567 disease not phenotype-associated VAR_024568 commonName VAR_024568 VAR_024568 disease not phenotype-associated VAR_024569 commonName VAR_024569 VAR_024569 disease not phenotype-associated VAR_024570 commonName VAR_024570 VAR_024570 disease not phenotype-associated VAR_024571 commonName VAR_024571 VAR_024571 disease not phenotype-associated VAR_024573 commonName VAR_024573 VAR_024573 disease not phenotype-associated VAR_024574 commonName VAR_024574 VAR_024574 disease not phenotype-associated VAR_024575 commonName VAR_024575 VAR_024575 disease not phenotype-associated VAR_024577 commonName VAR_024577 VAR_024577 disease not phenotype-associated VAR_024578 commonName VAR_024578 VAR_024578 disease not phenotype-associated VAR_024579 commonName VAR_024579 VAR_024579 disease not phenotype-associated VAR_024580 commonName VAR_024580 VAR_024580 disease not phenotype-associated VAR_024581 commonName VAR_024581 VAR_024581 disease not phenotype-associated VAR_024582 commonName VAR_024582 VAR_024582 disease not phenotype-associated VAR_024583 commonName VAR_024583 VAR_024583 disease not phenotype-associated VAR_024584 commonName VAR_024584 VAR_024584 disease not phenotype-associated VAR_024585 commonName VAR_024585 VAR_024585 disease not phenotype-associated VAR_024586 commonName VAR_024586 VAR_024586 disease not phenotype-associated VAR_024587 commonName VAR_024587 VAR_024587 disease not phenotype-associated VAR_024588 commonName VAR_024588 VAR_024588 disease not phenotype-associated VAR_024589 commonName VAR_024589 VAR_024589 disease not phenotype-associated VAR_024590 commonName VAR_024590 VAR_024590 disease not phenotype-associated VAR_024591 commonName VAR_024591 VAR_024591 disease not phenotype-associated VAR_024592 commonName VAR_024592 VAR_024592 disease not phenotype-associated VAR_024593 commonName VAR_024593 VAR_024593 disease not phenotype-associated VAR_024594 commonName VAR_024594 VAR_024594 disease not phenotype-associated VAR_024595 commonName VAR_024595 VAR_024595 disease not phenotype-associated VAR_024597 commonName VAR_024597 VAR_024597 disease not phenotype-associated VAR_024598 commonName VAR_024598 VAR_024598 disease not phenotype-associated VAR_024599 commonName VAR_024599 VAR_024599 disease not phenotype-associated VAR_024600 commonName VAR_024600 VAR_024600 disease not phenotype-associated VAR_024601 commonName VAR_024601 VAR_024601 disease not phenotype-associated VAR_024602 commonName VAR_024602 VAR_024602 disease not phenotype-associated VAR_024603 commonName VAR_024603 VAR_024603 disease not phenotype-associated VAR_024604 commonName VAR_024604 VAR_024604 disease not phenotype-associated VAR_024605 commonName VAR_024605 VAR_024605 disease not phenotype-associated VAR_024607 commonName VAR_024607 VAR_024607 disease not phenotype-associated VAR_024608 commonName VAR_024608 VAR_024608 disease not phenotype-associated VAR_024609 commonName VAR_024609 VAR_024609 disease not phenotype-associated VAR_024610 commonName VAR_024610 VAR_024610 disease not phenotype-associated VAR_024611 commonName VAR_024611 VAR_024611 disease not phenotype-associated VAR_024612 commonName VAR_024612 VAR_024612 disease not phenotype-associated VAR_024613 commonName VAR_024613 VAR_024613 disease not phenotype-associated VAR_024614 commonName VAR_024614 VAR_024614 disease not phenotype-associated VAR_024615 commonName VAR_024615 VAR_024615 disease not phenotype-associated VAR_024616 commonName VAR_024616 VAR_024616 disease not phenotype-associated VAR_024617 commonName VAR_024617 VAR_024617 disease not phenotype-associated VAR_024618 commonName VAR_024618 VAR_024618 disease not phenotype-associated VAR_024619 commonName VAR_024619 VAR_024619 disease not phenotype-associated VAR_024620 commonName VAR_024620 VAR_024620 disease not phenotype-associated VAR_024621 commonName VAR_024621 VAR_024621 disease not phenotype-associated VAR_024623 commonName VAR_024623 VAR_024623 disease not phenotype-associated VAR_024624 commonName VAR_024624 VAR_024624 disease not phenotype-associated VAR_024625 commonName VAR_024625 VAR_024625 disease not phenotype-associated VAR_024626 commonName VAR_024626 VAR_024626 disease not phenotype-associated VAR_024627 commonName VAR_024627 VAR_024627 disease not phenotype-associated VAR_024628 commonName VAR_024628 VAR_024628 disease not phenotype-associated VAR_024629 commonName VAR_024629 VAR_024629 disease not phenotype-associated VAR_024630 commonName VAR_024630 VAR_024630 disease not phenotype-associated VAR_024631 commonName VAR_024631 VAR_024631 disease not phenotype-associated VAR_024632 commonName VAR_024632 VAR_024632 disease not phenotype-associated VAR_024633 commonName VAR_024633 VAR_024633 disease not phenotype-associated VAR_024634 commonName VAR_024634 VAR_024634 disease not phenotype-associated VAR_024635 commonName VAR_024635 VAR_024635 disease not phenotype-associated VAR_024636 commonName VAR_024636 VAR_024636 disease not phenotype-associated VAR_024637 commonName VAR_024637 VAR_024637 disease not phenotype-associated VAR_024638 commonName VAR_024638 VAR_024638 disease not phenotype-associated VAR_024639 commonName VAR_024639 VAR_024639 disease not phenotype-associated VAR_024640 commonName VAR_024640 VAR_024640 disease not phenotype-associated VAR_024641 commonName VAR_024641 VAR_024641 disease not phenotype-associated VAR_024642 commonName VAR_024642 VAR_024642 disease not phenotype-associated VAR_024643 commonName VAR_024643 VAR_024643 disease not phenotype-associated VAR_024644 commonName VAR_024644 VAR_024644 disease not phenotype-associated VAR_024645 commonName VAR_024645 VAR_024645 disease not phenotype-associated VAR_024646 commonName VAR_024646 VAR_024646 disease not phenotype-associated VAR_024647 commonName VAR_024647 VAR_024647 disease not phenotype-associated VAR_024648 commonName VAR_024648 VAR_024648 disease not phenotype-associated VAR_024649 commonName VAR_024649 VAR_024649 disease not phenotype-associated VAR_024650 commonName VAR_024650 VAR_024650 disease not phenotype-associated VAR_024651 commonName VAR_024651 VAR_024651 disease not phenotype-associated VAR_024652 commonName VAR_024652 VAR_024652 disease not phenotype-associated VAR_024653 commonName VAR_024653 VAR_024653 disease not phenotype-associated VAR_024655 commonName VAR_024655 VAR_024655 disease not phenotype-associated VAR_024656 commonName VAR_024656 VAR_024656 disease not phenotype-associated VAR_024657 commonName VAR_024657 VAR_024657 disease not phenotype-associated VAR_024658 commonName VAR_024658 VAR_024658 disease not phenotype-associated VAR_024659 commonName VAR_024659 VAR_024659 disease not phenotype-associated VAR_024660 commonName VAR_024660 VAR_024660 disease not phenotype-associated VAR_024661 commonName VAR_024661 VAR_024661 disease not phenotype-associated VAR_024662 commonName VAR_024662 VAR_024662 disease not phenotype-associated VAR_024663 commonName VAR_024663 VAR_024663 disease not phenotype-associated VAR_024665 commonName VAR_024665 VAR_024665 disease not phenotype-associated VAR_024667 commonName VAR_024667 VAR_024667 disease not phenotype-associated VAR_024668 commonName VAR_024668 VAR_024668 disease not phenotype-associated VAR_024669 commonName VAR_024669 VAR_024669 disease not phenotype-associated VAR_024670 commonName VAR_024670 VAR_024670 disease not phenotype-associated VAR_024671 commonName VAR_024671 VAR_024671 disease not phenotype-associated VAR_024672 commonName VAR_024672 VAR_024672 disease not phenotype-associated VAR_024673 commonName VAR_024673 VAR_024673 disease not phenotype-associated VAR_024674 commonName VAR_024674 VAR_024674 disease not phenotype-associated VAR_024675 commonName VAR_024675 VAR_024675 disease not phenotype-associated VAR_024677 commonName VAR_024677 VAR_024677 disease not phenotype-associated VAR_024678 commonName VAR_024678 VAR_024678 disease not phenotype-associated VAR_024679 commonName VAR_024679 VAR_024679 disease not phenotype-associated VAR_024680 commonName VAR_024680 VAR_024680 disease not phenotype-associated VAR_024683 commonName VAR_024683 VAR_024683 disease not phenotype-associated VAR_024684 commonName VAR_024684 VAR_024684 disease not phenotype-associated VAR_024685 commonName VAR_024685 VAR_024685 disease not phenotype-associated VAR_024686 commonName VAR_024686 VAR_024686 disease not phenotype-associated VAR_024687 commonName VAR_024687 VAR_024687 disease not phenotype-associated VAR_024689 commonName VAR_024689 VAR_024689 disease not phenotype-associated VAR_024690 commonName VAR_024690 VAR_024690 disease not phenotype-associated VAR_024691 commonName VAR_024691 VAR_024691 disease not phenotype-associated VAR_024692 commonName VAR_024692 VAR_024692 disease not phenotype-associated VAR_024693 commonName VAR_024693 VAR_024693 disease not phenotype-associated VAR_024694 commonName VAR_024694 VAR_024694 disease not phenotype-associated VAR_024695 commonName VAR_024695 VAR_024695 disease not phenotype-associated VAR_024696 commonName VAR_024696 VAR_024696 disease not phenotype-associated VAR_024697 commonName VAR_024697 VAR_024697 disease not phenotype-associated VAR_024698 commonName VAR_024698 VAR_024698 disease not phenotype-associated VAR_024699 commonName VAR_024699 VAR_024699 disease not phenotype-associated VAR_024700 commonName VAR_024700 VAR_024700 disease not phenotype-associated VAR_024701 commonName VAR_024701 VAR_024701 disease not phenotype-associated VAR_024702 commonName VAR_024702 VAR_024702 disease not phenotype-associated VAR_024703 commonName VAR_024703 VAR_024703 disease not phenotype-associated VAR_024704 commonName VAR_024704 VAR_024704 disease not phenotype-associated VAR_024705 commonName VAR_024705 VAR_024705 disease not phenotype-associated VAR_024706 commonName VAR_024706 VAR_024706 disease not phenotype-associated VAR_024707 commonName VAR_024707 VAR_024707 disease not phenotype-associated VAR_024708 commonName VAR_024708 VAR_024708 disease not phenotype-associated VAR_024711 commonName VAR_024711 VAR_024711 disease not phenotype-associated VAR_024712 commonName VAR_024712 VAR_024712 disease not phenotype-associated VAR_024713 commonName VAR_024713 VAR_024713 disease not phenotype-associated VAR_024714 commonName VAR_024714 VAR_024714 disease not phenotype-associated VAR_024715 commonName VAR_024715 VAR_024715 disease not phenotype-associated VAR_024716 commonName VAR_024716 VAR_024716 disease not phenotype-associated VAR_024717 commonName VAR_024717 VAR_024717 disease not phenotype-associated VAR_024718 commonName VAR_024718 VAR_024718 disease not phenotype-associated VAR_024719 commonName VAR_024719 VAR_024719 disease not phenotype-associated VAR_024728 commonName VAR_024728 VAR_024728 disease not phenotype-associated VAR_024729 commonName VAR_024729 VAR_024729 disease not phenotype-associated VAR_024730 commonName VAR_024730 VAR_024730 disease not phenotype-associated VAR_024731 commonName VAR_024731 VAR_024731 disease not phenotype-associated VAR_024732 commonName VAR_024732 VAR_024732 disease not phenotype-associated VAR_024733 commonName VAR_024733 VAR_024733 disease not phenotype-associated VAR_024734 commonName VAR_024734 VAR_024734 disease not phenotype-associated VAR_024735 commonName VAR_024735 VAR_024735 disease not phenotype-associated VAR_024736 commonName VAR_024736 VAR_024736 disease not phenotype-associated VAR_024737 commonName VAR_024737 VAR_024737 disease not phenotype-associated VAR_024739 commonName VAR_024739 VAR_024739 disease not phenotype-associated VAR_024740 commonName VAR_024740 VAR_024740 disease not phenotype-associated VAR_024741 commonName VAR_024741 VAR_024741 disease phenotype-associated VAR_024741 phenoCommon Johanson-Blizzard syndrome (JBS) [MIM:243800] VAR_024743 commonName VAR_024743 VAR_024743 disease not phenotype-associated VAR_024746 commonName VAR_024746 VAR_024746 disease not phenotype-associated VAR_024747 commonName VAR_024747 VAR_024747 disease not phenotype-associated VAR_024748 commonName VAR_024748 VAR_024748 disease not phenotype-associated VAR_024749 commonName VAR_024749 VAR_024749 disease phenotype-associated VAR_024749 phenoCommon Retinitis pigmentosa type 17 (RP17) [MIM:600852] VAR_024750 commonName VAR_024750 VAR_024750 disease phenotype-associated VAR_024750 phenoCommon Retinitis pigmentosa type 17 (RP17) [MIM:600852] VAR_024751 commonName VAR_024751 VAR_024751 disease phenotype-associated VAR_024751 phenoCommon Proximal renal tubular acidosis with ocular abnormalities (pRTA-OA) [MIM:604278] VAR_024752 commonName VAR_024752 VAR_024752 disease phenotype-associated VAR_024752 phenoCommon Proximal renal tubular acidosis with ocular abnormalities (pRTA-OA) [MIM:604278] VAR_024753 commonName VAR_024753 VAR_024753 disease phenotype-associated VAR_024753 phenoCommon Proximal renal tubular acidosis with ocular abnormalities (pRTA-OA) [MIM:604278] VAR_024754 commonName VAR_024754 VAR_024754 disease phenotype-associated VAR_024754 phenoCommon Proximal renal tubular acidosis with ocular abnormalities (pRTA-OA) [MIM:604278] VAR_024755 commonName VAR_024755 VAR_024755 disease phenotype-associated VAR_024755 phenoCommon Proximal renal tubular acidosis with ocular abnormalities (pRTA-OA) [MIM:604278] VAR_024756 commonName VAR_024756 VAR_024756 disease phenotype-associated VAR_024756 phenoCommon Proximal renal tubular acidosis with ocular abnormalities (pRTA-OA) [MIM:604278] VAR_024757 commonName VAR_024757 VAR_024757 disease not phenotype-associated VAR_024758 commonName VAR_024758 VAR_024758 disease not phenotype-associated VAR_024759 commonName VAR_024759 VAR_024759 disease not phenotype-associated VAR_024760 commonName VAR_024760 VAR_024760 disease not phenotype-associated VAR_024762 commonName VAR_024762 VAR_024762 disease not phenotype-associated VAR_024763 commonName VAR_024763 VAR_024763 disease not phenotype-associated VAR_024764 commonName VAR_024764 VAR_024764 disease not phenotype-associated VAR_024765 commonName VAR_024765 VAR_024765 disease phenotype-associated VAR_024765 phenoCommon Hypophosphatemic nephrolithiasis/osteoporosis type 1 (NPHLOP1) [MIM:612286] VAR_024766 commonName VAR_024766 VAR_024766 disease phenotype-associated VAR_024766 phenoCommon Hypophosphatemic nephrolithiasis/osteoporosis type 1 (NPHLOP1) [MIM:612286] VAR_024767 commonName VAR_024767 VAR_024767 disease not phenotype-associated VAR_024768 commonName VAR_024768 VAR_024768 disease not phenotype-associated VAR_024769 commonName VAR_024769 VAR_024769 disease not phenotype-associated VAR_024770 commonName VAR_024770 VAR_024770 disease phenotype-associated VAR_024770 phenoCommon Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400] VAR_024771 commonName VAR_024771 VAR_024771 disease phenotype-associated VAR_024771 phenoCommon Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400] VAR_024772 commonName VAR_024772 VAR_024772 disease phenotype-associated VAR_024772 phenoCommon Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400] VAR_024773 commonName VAR_024773 VAR_024773 disease phenotype-associated VAR_024773 phenoCommon Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400] VAR_024774 commonName VAR_024774 VAR_024774 disease phenotype-associated VAR_024774 phenoCommon Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400] VAR_024775 commonName VAR_024775 VAR_024775 disease phenotype-associated VAR_024775 phenoCommon Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400] VAR_024776 commonName VAR_024776 VAR_024776 disease phenotype-associated VAR_024776 phenoCommon Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400] VAR_024777 commonName VAR_024777 VAR_024777 disease phenotype-associated VAR_024777 phenoCommon Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400] VAR_024778 commonName VAR_024778 VAR_024778 disease phenotype-associated VAR_024778 phenoCommon Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400] VAR_024779 commonName VAR_024779 VAR_024779 disease phenotype-associated VAR_024779 phenoCommon Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400] VAR_024780 commonName VAR_024780 VAR_024780 disease phenotype-associated VAR_024780 phenoCommon Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400] VAR_024781 commonName VAR_024781 VAR_024781 disease phenotype-associated VAR_024781 phenoCommon Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400] VAR_024782 commonName VAR_024782 VAR_024782 disease phenotype-associated VAR_024782 phenoCommon Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400] VAR_024783 commonName VAR_024783 VAR_024783 disease phenotype-associated VAR_024783 phenoCommon Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400] VAR_024784 commonName VAR_024784 VAR_024784 disease not phenotype-associated VAR_024785 commonName VAR_024785 VAR_024785 disease not phenotype-associated VAR_024786 commonName VAR_024786 VAR_024786 disease not phenotype-associated VAR_024787 commonName VAR_024787 VAR_024787 disease not phenotype-associated VAR_024788 commonName VAR_024788 VAR_024788 disease not phenotype-associated VAR_024789 commonName VAR_024789 VAR_024789 disease not phenotype-associated VAR_024790 commonName VAR_024790 VAR_024790 disease not phenotype-associated VAR_024791 commonName VAR_024791 VAR_024791 disease not phenotype-associated VAR_024792 commonName VAR_024792 VAR_024792 disease not phenotype-associated VAR_024793 commonName VAR_024793 VAR_024793 disease not phenotype-associated VAR_024794 commonName VAR_024794 VAR_024794 disease not phenotype-associated VAR_024795 commonName VAR_024795 VAR_024795 disease not phenotype-associated VAR_024796 comment A glioma sample VAR_024796 commonName VAR_024796 VAR_024797 comment A glioma sample VAR_024797 commonName VAR_024797 VAR_024798 commonName VAR_024798 VAR_024798 disease not phenotype-associated VAR_024799 commonName VAR_024799 VAR_024799 disease not phenotype-associated VAR_024800 commonName VAR_024800 VAR_024800 disease not phenotype-associated VAR_024801 commonName VAR_024801 VAR_024801 disease not phenotype-associated VAR_024802 commonName VAR_024802 VAR_024802 disease not phenotype-associated VAR_024803 commonName VAR_024803 VAR_024803 disease not phenotype-associated VAR_024804 commonName VAR_024804 VAR_024804 disease not phenotype-associated VAR_024805 commonName VAR_024805 VAR_024805 disease not phenotype-associated VAR_024806 commonName VAR_024806 VAR_024807 commonName VAR_024807 VAR_024807 disease not phenotype-associated VAR_024808 commonName VAR_024808 VAR_024808 disease not phenotype-associated VAR_024809 commonName VAR_024809 VAR_024809 disease not phenotype-associated VAR_024810 commonName VAR_024810 VAR_024810 disease not phenotype-associated VAR_024811 commonName VAR_024811 VAR_024811 disease not phenotype-associated VAR_024812 commonName VAR_024812 VAR_024812 disease not phenotype-associated VAR_024813 commonName VAR_024813 VAR_024813 disease not phenotype-associated VAR_024814 commonName VAR_024814 VAR_024814 disease not phenotype-associated VAR_024815 commonName VAR_024815 VAR_024815 disease not phenotype-associated VAR_024816 commonName VAR_024816 VAR_024816 disease not phenotype-associated VAR_024817 commonName VAR_024817 VAR_024817 disease not phenotype-associated VAR_024818 commonName VAR_024818 VAR_024818 disease phenotype-associated VAR_024818 phenoCommon Age-related macular degeneration type 1 (ARMD1) [MIM:603075] VAR_024819 commonName VAR_024819 VAR_024819 disease phenotype-associated VAR_024819 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610] VAR_024820 commonName VAR_024820 VAR_024820 disease phenotype-associated VAR_024820 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610] VAR_024821 commonName VAR_024821 VAR_024821 disease phenotype-associated VAR_024821 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610] VAR_024822 commonName VAR_024822 VAR_024822 disease phenotype-associated VAR_024822 phenoCommon Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210] VAR_024823 commonName VAR_024823 VAR_024823 disease phenotype-associated VAR_024823 phenoCommon Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210] VAR_024824 commonName VAR_024824 VAR_024824 disease phenotype-associated VAR_024824 phenoCommon Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210] VAR_024826 commonName VAR_024826 VAR_024826 disease phenotype-associated VAR_024826 phenoCommon Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210] VAR_024827 commonName VAR_024827 VAR_024827 disease not phenotype-associated VAR_024828 commonName VAR_024828 VAR_024828 disease not phenotype-associated VAR_024829 commonName VAR_024829 VAR_024829 disease not phenotype-associated VAR_024830 commonName VAR_024830 VAR_024830 disease not phenotype-associated VAR_024831 commonName VAR_024831 VAR_024832 commonName VAR_024832 VAR_024832 disease not phenotype-associated VAR_024833 commonName VAR_024833 VAR_024834 commonName VAR_024834 VAR_024835 commonName VAR_024835 VAR_024835 disease not phenotype-associated VAR_024836 commonName VAR_024836 VAR_024836 disease not phenotype-associated VAR_024837 commonName VAR_024837 VAR_024837 disease not phenotype-associated VAR_024838 commonName VAR_024838 VAR_024838 disease not phenotype-associated VAR_024839 commonName VAR_024839 VAR_024839 disease not phenotype-associated VAR_024840 commonName VAR_024840 VAR_024840 disease not phenotype-associated VAR_024841 commonName VAR_024841 VAR_024841 disease not phenotype-associated VAR_024842 commonName VAR_024842 VAR_024842 disease not phenotype-associated VAR_024843 commonName VAR_024843 VAR_024843 disease not phenotype-associated VAR_024844 commonName VAR_024844 VAR_024844 disease not phenotype-associated VAR_024845 commonName VAR_024845 VAR_024845 disease not phenotype-associated VAR_024846 commonName VAR_024846 VAR_024846 disease not phenotype-associated VAR_024847 commonName VAR_024847 VAR_024847 disease not phenotype-associated VAR_024848 commonName VAR_024848 VAR_024848 disease not phenotype-associated VAR_024849 commonName VAR_024849 VAR_024849 disease not phenotype-associated VAR_024850 commonName VAR_024850 VAR_024850 disease not phenotype-associated VAR_024851 commonName VAR_024851 VAR_024851 disease phenotype-associated VAR_024851 phenoCommon Maple syrup urine disease type IB (MSUD1B) [MIM:248600] VAR_024852 commonName VAR_024852 VAR_024852 disease phenotype-associated VAR_024852 phenoCommon Maple syrup urine disease type IB (MSUD1B) [MIM:248600] VAR_024853 commonName VAR_024853 VAR_024853 disease phenotype-associated VAR_024853 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] VAR_024853 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] VAR_024854 commonName VAR_024854 VAR_024854 disease not phenotype-associated VAR_024855 commonName VAR_024855 VAR_024856 commonName VAR_024856 VAR_024857 commonName VAR_024857 VAR_024857 disease phenotype-associated VAR_024857 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] VAR_024858 commonName VAR_024858 VAR_024858 disease phenotype-associated VAR_024858 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] VAR_024859 commonName VAR_024859 VAR_024859 disease phenotype-associated VAR_024859 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] VAR_024859 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] VAR_024860 commonName VAR_024860 VAR_024860 disease phenotype-associated VAR_024860 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] VAR_024860 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] VAR_024861 commonName VAR_024861 VAR_024861 disease phenotype-associated VAR_024861 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] VAR_024862 commonName VAR_024862 VAR_024862 disease phenotype-associated VAR_024862 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] VAR_024863 commonName VAR_024863 VAR_024863 disease phenotype-associated VAR_024863 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] VAR_024865 commonName VAR_024865 VAR_024865 disease phenotype-associated VAR_024865 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] VAR_024866 commonName VAR_024866 VAR_024867 commonName VAR_024867 VAR_024867 disease not phenotype-associated VAR_024868 commonName VAR_024868 VAR_024868 disease phenotype-associated VAR_024868 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] VAR_024868 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] VAR_024869 commonName VAR_024869 VAR_024869 disease not phenotype-associated VAR_024870 commonName VAR_024870 VAR_024870 disease phenotype-associated VAR_024870 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] VAR_024871 commonName VAR_024871 VAR_024872 commonName VAR_024872 VAR_024872 disease phenotype-associated VAR_024872 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] VAR_024873 commonName VAR_024873 VAR_024873 disease phenotype-associated VAR_024873 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024875 commonName VAR_024875 VAR_024875 disease phenotype-associated VAR_024875 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024876 commonName VAR_024876 VAR_024876 disease phenotype-associated VAR_024876 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024877 commonName VAR_024877 VAR_024877 disease phenotype-associated VAR_024877 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024878 commonName VAR_024878 VAR_024878 disease phenotype-associated HbVar.679 commonName Hb A2-Babinga VAR_024878 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024880 commonName VAR_024880 VAR_024880 disease phenotype-associated VAR_024880 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024881 commonName VAR_024881 VAR_024881 disease phenotype-associated VAR_024881 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024882 commonName VAR_024882 VAR_024882 disease phenotype-associated VAR_024882 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024884 commonName VAR_024884 VAR_024884 disease phenotype-associated VAR_024884 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024885 commonName VAR_024885 VAR_024885 disease phenotype-associated VAR_024885 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024886 commonName VAR_024886 VAR_024886 disease phenotype-associated VAR_024886 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024887 commonName VAR_024887 VAR_024887 disease phenotype-associated VAR_024887 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024888 commonName VAR_024888 VAR_024888 disease phenotype-associated VAR_024888 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024889 commonName VAR_024889 VAR_024889 disease phenotype-associated VAR_024889 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024890 commonName VAR_024890 VAR_024890 disease phenotype-associated VAR_024890 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024891 commonName VAR_024891 VAR_024891 disease phenotype-associated VAR_024891 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024892 commonName VAR_024892 VAR_024892 disease phenotype-associated VAR_024892 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024893 commonName VAR_024893 VAR_024893 disease phenotype-associated VAR_024893 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024894 commonName VAR_024894 VAR_024894 disease phenotype-associated VAR_024894 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024895 commonName VAR_024895 VAR_024895 disease phenotype-associated VAR_024895 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024896 commonName VAR_024896 VAR_024896 disease phenotype-associated VAR_024896 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024897 commonName VAR_024897 VAR_024897 disease phenotype-associated VAR_024897 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024898 commonName VAR_024898 VAR_024898 disease phenotype-associated VAR_024898 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024899 commonName VAR_024899 VAR_024899 disease phenotype-associated VAR_024899 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024900 commonName VAR_024900 VAR_024900 disease phenotype-associated VAR_024900 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024902 commonName VAR_024902 VAR_024902 disease phenotype-associated VAR_024902 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024903 commonName VAR_024903 VAR_024903 disease phenotype-associated VAR_024903 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024904 commonName VAR_024904 VAR_024904 disease phenotype-associated VAR_024904 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024905 commonName VAR_024905 VAR_024905 disease phenotype-associated VAR_024905 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024906 commonName VAR_024906 VAR_024906 disease phenotype-associated VAR_024906 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024907 commonName VAR_024907 VAR_024907 disease phenotype-associated VAR_024907 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024908 commonName VAR_024908 VAR_024908 disease phenotype-associated VAR_024908 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024909 commonName VAR_024909 VAR_024909 disease phenotype-associated VAR_024909 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024910 commonName VAR_024910 VAR_024910 disease phenotype-associated VAR_024910 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024911 commonName VAR_024911 VAR_024911 disease phenotype-associated VAR_024911 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024912 commonName VAR_024912 VAR_024912 disease phenotype-associated VAR_024912 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024913 commonName VAR_024913 VAR_024913 disease phenotype-associated VAR_024913 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024914 commonName VAR_024914 VAR_024914 disease phenotype-associated VAR_024914 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024915 commonName VAR_024915 VAR_024915 disease phenotype-associated VAR_024915 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024916 commonName VAR_024916 VAR_024916 disease phenotype-associated VAR_024916 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024917 commonName VAR_024917 VAR_024917 disease phenotype-associated VAR_024917 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024919 commonName VAR_024919 VAR_024919 disease phenotype-associated VAR_024919 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024920 commonName VAR_024920 VAR_024920 disease phenotype-associated VAR_024920 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024921 commonName VAR_024921 VAR_024921 disease phenotype-associated VAR_024921 phenoCommon Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000] VAR_024922 commonName VAR_024922 VAR_024922 disease not phenotype-associated VAR_024923 commonName VAR_024923 VAR_024923 disease not phenotype-associated VAR_024924 commonName VAR_024924 VAR_024924 disease not phenotype-associated VAR_024925 commonName VAR_024925 VAR_024925 disease not phenotype-associated VAR_024926 commonName VAR_024926 VAR_024926 disease not phenotype-associated VAR_024927 commonName VAR_024927 VAR_024927 disease not phenotype-associated VAR_024928 commonName VAR_024928 VAR_024928 disease not phenotype-associated VAR_024929 commonName VAR_024929 VAR_024929 disease not phenotype-associated VAR_024930 commonName VAR_024930 VAR_024930 disease not phenotype-associated VAR_024931 commonName VAR_024931 VAR_024931 disease not phenotype-associated VAR_024932 commonName VAR_024932 VAR_024932 disease not phenotype-associated VAR_024933 commonName VAR_024933 VAR_024933 disease not phenotype-associated VAR_024934 commonName VAR_024934 VAR_024934 disease not phenotype-associated VAR_024935 commonName VAR_024935 VAR_024936 commonName VAR_024936 VAR_024937 commonName VAR_024937 VAR_024937 disease not phenotype-associated VAR_024938 commonName VAR_024938 VAR_024938 disease phenotype-associated VAR_024938 phenoCommon Parkinson disease type 8 (PARK8) [MIM:607060] VAR_024939 commonName VAR_024939 VAR_024940 commonName VAR_024940 VAR_024940 disease phenotype-associated VAR_024940 phenoCommon Parkinson disease type 8 (PARK8) [MIM:607060] VAR_024941 commonName VAR_024941 VAR_024941 disease phenotype-associated VAR_024941 phenoCommon Parkinson disease type 8 (PARK8) [MIM:607060] VAR_024942 commonName VAR_024942 VAR_024942 disease not phenotype-associated VAR_024966 commonName VAR_024966 VAR_024966 disease not phenotype-associated VAR_024967 commonName VAR_024967 VAR_024967 disease not phenotype-associated VAR_024968 commonName VAR_024968 VAR_024968 disease not phenotype-associated VAR_024969 commonName VAR_024969 VAR_024970 commonName VAR_024970 VAR_024970 disease not phenotype-associated VAR_024971 commonName VAR_024971 VAR_024971 disease not phenotype-associated VAR_024972 commonName VAR_024972 VAR_024972 disease not phenotype-associated VAR_024973 commonName VAR_024973 VAR_024973 disease not phenotype-associated VAR_024974 commonName VAR_024974 VAR_024975 commonName VAR_024975 VAR_024975 disease not phenotype-associated VAR_024976 commonName VAR_024976 VAR_024976 disease not phenotype-associated VAR_024977 commonName VAR_024977 VAR_024977 disease not phenotype-associated VAR_024978 commonName VAR_024978 VAR_024978 disease not phenotype-associated VAR_024979 commonName VAR_024979 VAR_024979 disease not phenotype-associated VAR_024980 commonName VAR_024980 VAR_024980 disease not phenotype-associated VAR_024981 commonName VAR_024981 VAR_024981 disease not phenotype-associated VAR_024982 commonName VAR_024982 VAR_024982 disease not phenotype-associated VAR_024983 commonName VAR_024983 VAR_024983 disease not phenotype-associated VAR_024984 commonName VAR_024984 VAR_024984 disease not phenotype-associated VAR_024985 commonName VAR_024985 VAR_024985 disease not phenotype-associated VAR_024986 commonName VAR_024986 VAR_024987 commonName VAR_024987 VAR_024987 disease not phenotype-associated VAR_024988 commonName VAR_024988 VAR_024988 disease not phenotype-associated VAR_024989 commonName VAR_024989 VAR_024989 disease not phenotype-associated VAR_024990 commonName VAR_024990 VAR_024990 disease not phenotype-associated VAR_024991 commonName VAR_024991 VAR_024991 disease not phenotype-associated VAR_024992 commonName VAR_024992 VAR_024993 commonName VAR_024993 VAR_024993 disease not phenotype-associated VAR_024994 commonName VAR_024994 VAR_024994 disease not phenotype-associated VAR_024995 commonName VAR_024995 VAR_024995 disease not phenotype-associated VAR_024996 commonName VAR_024996 VAR_024996 disease phenotype-associated VAR_024996 phenoCommon Bernard-Soulier syndrome (BSS) [MIM:231200] VAR_024997 commonName VAR_024997 VAR_024997 disease phenotype-associated VAR_024997 phenoCommon Bernard-Soulier syndrome (BSS) [MIM:231200] VAR_024998 commonName VAR_024998 VAR_024998 disease phenotype-associated VAR_024998 phenoCommon Bernard-Soulier syndrome (BSS) [MIM:231200] VAR_024999 commonName VAR_024999 VAR_024999 disease phenotype-associated VAR_024999 phenoCommon Bernard-Soulier syndrome (BSS) [MIM:231200] VAR_025000 commonName VAR_025000 VAR_025000 disease phenotype-associated VAR_025000 phenoCommon Bernard-Soulier syndrome (BSS) [MIM:231200] VAR_025001 commonName VAR_025001 VAR_025001 disease phenotype-associated VAR_025001 phenoCommon Bernard-Soulier syndrome (BSS) [MIM:231200] VAR_025002 commonName VAR_025002 VAR_025003 commonName VAR_025003 VAR_025003 disease not phenotype-associated VAR_025005 commonName VAR_025005 VAR_025005 disease not phenotype-associated VAR_025006 commonName VAR_025006 VAR_025006 disease not phenotype-associated VAR_025008 commonName VAR_025008 VAR_025008 disease phenotype-associated VAR_025008 phenoCommon Bernard-Soulier syndrome (BSS) [MIM:231200] VAR_025009 commonName VAR_025009 VAR_025009 disease phenotype-associated VAR_025009 phenoCommon Bernard-Soulier syndrome (BSS) [MIM:231200] VAR_025010 commonName VAR_025010 VAR_025010 disease not phenotype-associated VAR_025011 commonName VAR_025011 VAR_025011 disease not phenotype-associated VAR_025012 commonName VAR_025012 VAR_025012 disease not phenotype-associated VAR_025013 commonName VAR_025013 VAR_025013 disease not phenotype-associated VAR_025016 commonName VAR_025016 VAR_025016 disease not phenotype-associated VAR_025017 commonName VAR_025017 VAR_025017 disease not phenotype-associated VAR_025018 commonName VAR_025018 VAR_025018 disease not phenotype-associated VAR_025019 commonName VAR_025019 VAR_025019 disease not phenotype-associated VAR_025022 commonName VAR_025022 VAR_025022 disease not phenotype-associated VAR_025023 commonName VAR_025023 VAR_025023 disease not phenotype-associated VAR_025024 commonName VAR_025024 VAR_025024 disease not phenotype-associated VAR_025025 commonName VAR_025025 VAR_025025 disease not phenotype-associated VAR_025026 commonName VAR_025026 VAR_025026 disease not phenotype-associated VAR_025027 commonName VAR_025027 VAR_025027 disease not phenotype-associated VAR_025028 commonName VAR_025028 VAR_025028 disease not phenotype-associated VAR_025029 commonName VAR_025029 VAR_025029 disease not phenotype-associated VAR_025030 commonName VAR_025030 VAR_025030 disease not phenotype-associated VAR_025031 commonName VAR_025031 VAR_025031 disease not phenotype-associated VAR_025032 commonName VAR_025032 VAR_025032 disease not phenotype-associated VAR_025033 commonName VAR_025033 VAR_025033 disease not phenotype-associated VAR_025034 commonName VAR_025034 VAR_025034 disease not phenotype-associated VAR_025035 commonName VAR_025035 VAR_025035 disease not phenotype-associated VAR_025036 commonName VAR_025036 VAR_025036 disease not phenotype-associated VAR_025037 commonName VAR_025037 VAR_025037 disease not phenotype-associated VAR_025038 commonName VAR_025038 VAR_025038 disease not phenotype-associated VAR_025039 commonName VAR_025039 VAR_025039 disease not phenotype-associated VAR_025040 commonName VAR_025040 VAR_025040 disease not phenotype-associated VAR_025041 commonName VAR_025041 VAR_025041 disease not phenotype-associated VAR_025043 commonName VAR_025043 VAR_025043 disease not phenotype-associated VAR_025044 commonName VAR_025044 VAR_025044 disease not phenotype-associated VAR_025045 commonName VAR_025045 VAR_025045 disease not phenotype-associated VAR_025046 commonName VAR_025046 VAR_025046 disease not phenotype-associated VAR_025047 commonName VAR_025047 VAR_025047 disease not phenotype-associated VAR_025049 commonName VAR_025049 VAR_025049 disease not phenotype-associated VAR_025050 commonName VAR_025050 VAR_025050 disease not phenotype-associated VAR_025051 commonName VAR_025051 VAR_025051 disease not phenotype-associated VAR_025052 commonName VAR_025052 VAR_025052 disease not phenotype-associated VAR_025053 commonName VAR_025053 VAR_025053 disease not phenotype-associated VAR_025054 commonName VAR_025054 VAR_025054 disease not phenotype-associated VAR_025055 commonName VAR_025055 VAR_025055 disease not phenotype-associated VAR_025056 commonName VAR_025056 VAR_025056 disease not phenotype-associated VAR_025057 commonName VAR_025057 VAR_025057 disease not phenotype-associated VAR_025058 commonName VAR_025058 VAR_025058 disease not phenotype-associated VAR_025060 commonName VAR_025060 VAR_025060 disease not phenotype-associated VAR_025061 commonName VAR_025061 VAR_025061 disease not phenotype-associated VAR_025062 commonName VAR_025062 VAR_025062 disease not phenotype-associated VAR_025063 commonName VAR_025063 VAR_025063 disease not phenotype-associated VAR_025064 commonName VAR_025064 VAR_025064 disease not phenotype-associated VAR_025065 commonName VAR_025065 VAR_025065 disease not phenotype-associated VAR_025066 commonName VAR_025066 VAR_025066 disease not phenotype-associated VAR_025067 commonName VAR_025067 VAR_025067 disease not phenotype-associated VAR_025068 commonName VAR_025068 VAR_025068 disease not phenotype-associated VAR_025069 commonName VAR_025069 VAR_025069 disease not phenotype-associated VAR_025070 commonName VAR_025070 VAR_025070 disease not phenotype-associated VAR_025071 commonName VAR_025071 VAR_025071 disease not phenotype-associated VAR_025075 commonName VAR_025075 VAR_025075 disease not phenotype-associated VAR_025076 commonName VAR_025076 VAR_025076 disease not phenotype-associated VAR_025077 commonName VAR_025077 VAR_025077 disease not phenotype-associated VAR_025078 commonName VAR_025078 VAR_025078 disease not phenotype-associated VAR_025079 commonName VAR_025079 VAR_025079 disease not phenotype-associated VAR_025080 commonName VAR_025080 VAR_025080 disease not phenotype-associated VAR_025081 commonName VAR_025081 VAR_025081 disease not phenotype-associated VAR_025089 commonName VAR_025089 VAR_025089 disease not phenotype-associated VAR_025090 commonName VAR_025090 VAR_025090 disease not phenotype-associated VAR_025091 commonName VAR_025091 VAR_025091 disease not phenotype-associated VAR_025092 commonName VAR_025092 VAR_025092 disease not phenotype-associated VAR_025093 commonName VAR_025093 VAR_025093 disease not phenotype-associated VAR_025094 commonName VAR_025094 VAR_025094 disease not phenotype-associated VAR_025095 commonName VAR_025095 VAR_025095 disease not phenotype-associated VAR_025096 commonName VAR_025096 VAR_025096 disease not phenotype-associated VAR_025097 commonName VAR_025097 VAR_025097 disease not phenotype-associated VAR_025098 commonName VAR_025098 VAR_025098 disease not phenotype-associated VAR_025099 commonName VAR_025099 VAR_025099 disease not phenotype-associated VAR_025100 commonName VAR_025100 VAR_025100 disease not phenotype-associated VAR_025101 commonName VAR_025101 VAR_025101 disease not phenotype-associated VAR_025102 commonName VAR_025102 VAR_025102 disease not phenotype-associated VAR_025103 commonName VAR_025103 VAR_025103 disease not phenotype-associated VAR_025104 commonName VAR_025104 VAR_025104 disease not phenotype-associated VAR_025105 commonName VAR_025105 VAR_025105 disease not phenotype-associated VAR_025106 commonName VAR_025106 VAR_025106 disease not phenotype-associated VAR_025108 commonName VAR_025108 VAR_025108 disease not phenotype-associated VAR_025109 commonName VAR_025109 VAR_025109 disease not phenotype-associated VAR_025110 commonName VAR_025110 VAR_025110 disease not phenotype-associated VAR_025111 commonName VAR_025111 VAR_025111 disease not phenotype-associated VAR_025112 commonName VAR_025112 VAR_025112 disease not phenotype-associated VAR_025113 commonName VAR_025113 VAR_025113 disease not phenotype-associated VAR_025114 commonName VAR_025114 VAR_025114 disease not phenotype-associated VAR_025115 commonName VAR_025115 VAR_025115 disease not phenotype-associated VAR_025116 commonName VAR_025116 VAR_025116 disease not phenotype-associated VAR_025117 commonName VAR_025117 VAR_025117 disease not phenotype-associated VAR_025118 commonName VAR_025118 VAR_025118 disease not phenotype-associated VAR_025119 commonName VAR_025119 VAR_025119 disease not phenotype-associated VAR_025120 commonName VAR_025120 VAR_025120 disease not phenotype-associated VAR_025121 commonName VAR_025121 VAR_025121 disease not phenotype-associated VAR_025122 commonName VAR_025122 VAR_025122 disease not phenotype-associated VAR_025123 commonName VAR_025123 VAR_025123 disease not phenotype-associated VAR_025124 commonName VAR_025124 VAR_025124 disease not phenotype-associated VAR_025125 commonName VAR_025125 VAR_025125 disease not phenotype-associated VAR_025126 commonName VAR_025126 VAR_025126 disease not phenotype-associated VAR_025127 commonName VAR_025127 VAR_025127 disease not phenotype-associated VAR_025128 commonName VAR_025128 VAR_025128 disease not phenotype-associated VAR_025129 commonName VAR_025129 VAR_025129 disease not phenotype-associated VAR_025130 commonName VAR_025130 VAR_025130 disease not phenotype-associated VAR_025131 commonName VAR_025131 VAR_025131 disease not phenotype-associated VAR_025132 commonName VAR_025132 VAR_025132 disease not phenotype-associated VAR_025133 commonName VAR_025133 VAR_025133 disease not phenotype-associated VAR_025134 commonName VAR_025134 VAR_025134 disease not phenotype-associated VAR_025135 commonName VAR_025135 VAR_025135 disease not phenotype-associated VAR_025136 commonName VAR_025136 VAR_025136 disease not phenotype-associated VAR_025137 commonName VAR_025137 VAR_025137 disease not phenotype-associated VAR_025138 commonName VAR_025138 VAR_025138 disease not phenotype-associated VAR_025139 commonName VAR_025139 VAR_025139 disease not phenotype-associated VAR_025140 commonName VAR_025140 VAR_025140 disease not phenotype-associated VAR_025141 commonName VAR_025141 VAR_025141 disease not phenotype-associated VAR_025142 commonName VAR_025142 VAR_025142 disease not phenotype-associated VAR_025143 commonName VAR_025143 VAR_025143 disease not phenotype-associated VAR_025144 commonName VAR_025144 VAR_025144 disease not phenotype-associated VAR_025145 commonName VAR_025145 VAR_025145 disease not phenotype-associated VAR_025146 commonName VAR_025146 VAR_025146 disease not phenotype-associated VAR_025147 commonName VAR_025147 VAR_025147 disease not phenotype-associated VAR_025148 commonName VAR_025148 VAR_025148 disease not phenotype-associated VAR_025149 commonName VAR_025149 VAR_025149 disease not phenotype-associated VAR_025150 commonName VAR_025150 VAR_025150 disease not phenotype-associated VAR_025151 commonName VAR_025151 VAR_025151 disease not phenotype-associated VAR_025152 commonName VAR_025152 VAR_025152 disease not phenotype-associated VAR_025153 commonName VAR_025153 VAR_025153 disease not phenotype-associated VAR_025154 commonName VAR_025154 VAR_025154 disease not phenotype-associated VAR_025155 commonName VAR_025155 VAR_025155 disease not phenotype-associated VAR_025156 commonName VAR_025156 VAR_025156 disease not phenotype-associated VAR_025157 commonName VAR_025157 VAR_025157 disease not phenotype-associated VAR_025158 commonName VAR_025158 VAR_025158 disease not phenotype-associated VAR_025159 commonName VAR_025159 VAR_025159 disease not phenotype-associated VAR_025160 commonName VAR_025160 VAR_025160 disease not phenotype-associated VAR_025161 commonName VAR_025161 VAR_025161 disease not phenotype-associated VAR_025162 commonName VAR_025162 VAR_025162 disease not phenotype-associated VAR_025163 commonName VAR_025163 VAR_025163 disease not phenotype-associated VAR_025164 commonName VAR_025164 VAR_025164 disease not phenotype-associated VAR_025165 commonName VAR_025165 VAR_025165 disease not phenotype-associated VAR_025166 commonName VAR_025166 VAR_025166 disease not phenotype-associated VAR_025167 commonName VAR_025167 VAR_025167 disease not phenotype-associated VAR_025168 commonName VAR_025168 VAR_025168 disease not phenotype-associated VAR_025169 commonName VAR_025169 VAR_025169 disease not phenotype-associated VAR_025170 commonName VAR_025170 VAR_025170 disease not phenotype-associated VAR_025171 commonName VAR_025171 VAR_025171 disease not phenotype-associated VAR_025172 commonName VAR_025172 VAR_025172 disease not phenotype-associated VAR_025173 commonName VAR_025173 VAR_025173 disease not phenotype-associated VAR_025174 commonName VAR_025174 VAR_025174 disease not phenotype-associated VAR_025175 commonName VAR_025175 VAR_025175 disease not phenotype-associated VAR_025176 commonName VAR_025176 VAR_025176 disease not phenotype-associated VAR_025177 commonName VAR_025177 VAR_025177 disease not phenotype-associated VAR_025178 commonName VAR_025178 VAR_025178 disease not phenotype-associated VAR_025179 commonName VAR_025179 VAR_025179 disease not phenotype-associated VAR_025180 commonName VAR_025180 VAR_025180 disease not phenotype-associated VAR_025181 commonName VAR_025181 VAR_025181 disease not phenotype-associated VAR_025190 commonName VAR_025190 VAR_025190 disease not phenotype-associated VAR_025191 commonName VAR_025191 VAR_025191 disease not phenotype-associated VAR_025192 commonName VAR_025192 VAR_025192 disease not phenotype-associated VAR_025193 commonName VAR_025193 VAR_025193 disease not phenotype-associated VAR_025194 commonName VAR_025194 VAR_025194 disease not phenotype-associated VAR_025200 commonName VAR_025200 VAR_025200 disease not phenotype-associated VAR_025201 commonName VAR_025201 VAR_025201 disease not phenotype-associated VAR_025202 commonName VAR_025202 VAR_025202 disease not phenotype-associated VAR_025206 commonName VAR_025206 VAR_025206 disease not phenotype-associated VAR_025207 commonName VAR_025207 VAR_025207 disease not phenotype-associated VAR_025208 commonName VAR_025208 VAR_025208 disease not phenotype-associated VAR_025209 commonName VAR_025209 VAR_025209 disease not phenotype-associated VAR_025210 commonName VAR_025210 VAR_025210 disease not phenotype-associated VAR_025211 commonName VAR_025211 VAR_025211 disease not phenotype-associated VAR_025212 commonName VAR_025212 VAR_025212 disease not phenotype-associated VAR_025213 commonName VAR_025213 VAR_025213 disease not phenotype-associated VAR_025214 commonName VAR_025214 VAR_025214 disease not phenotype-associated VAR_025216 commonName VAR_025216 VAR_025216 disease not phenotype-associated VAR_025217 commonName VAR_025217 VAR_025217 disease not phenotype-associated VAR_025218 commonName VAR_025218 VAR_025218 disease not phenotype-associated VAR_025219 commonName VAR_025219 VAR_025219 disease not phenotype-associated VAR_025220 commonName VAR_025220 VAR_025220 disease not phenotype-associated VAR_025221 commonName VAR_025221 VAR_025221 disease not phenotype-associated VAR_025222 commonName VAR_025222 VAR_025222 disease not phenotype-associated VAR_025223 commonName VAR_025223 VAR_025223 disease not phenotype-associated VAR_025228 commonName VAR_025228 VAR_025228 disease not phenotype-associated VAR_025229 commonName VAR_025229 VAR_025229 disease not phenotype-associated VAR_025230 commonName VAR_025230 VAR_025230 disease not phenotype-associated VAR_025231 commonName VAR_025231 VAR_025231 disease not phenotype-associated VAR_025232 commonName VAR_025232 VAR_025232 disease not phenotype-associated VAR_025233 commonName VAR_025233 VAR_025233 disease not phenotype-associated VAR_025234 commonName VAR_025234 VAR_025234 disease not phenotype-associated VAR_025235 commonName VAR_025235 VAR_025235 disease not phenotype-associated VAR_025236 commonName VAR_025236 VAR_025236 disease not phenotype-associated VAR_025237 commonName VAR_025237 VAR_025237 disease not phenotype-associated VAR_025238 commonName VAR_025238 VAR_025238 disease not phenotype-associated VAR_025239 commonName VAR_025239 VAR_025239 disease not phenotype-associated VAR_025240 commonName VAR_025240 VAR_025240 disease not phenotype-associated VAR_025241 commonName VAR_025241 VAR_025241 disease not phenotype-associated VAR_025242 commonName VAR_025242 VAR_025242 disease not phenotype-associated VAR_025243 commonName VAR_025243 VAR_025243 disease not phenotype-associated VAR_025244 commonName VAR_025244 VAR_025244 disease not phenotype-associated VAR_025245 commonName VAR_025245 VAR_025245 disease not phenotype-associated VAR_025246 commonName VAR_025246 VAR_025246 disease not phenotype-associated VAR_025247 commonName VAR_025247 VAR_025247 disease not phenotype-associated VAR_025248 commonName VAR_025248 VAR_025248 disease not phenotype-associated VAR_025249 commonName VAR_025249 VAR_025249 disease not phenotype-associated VAR_025250 commonName VAR_025250 VAR_025250 disease not phenotype-associated VAR_025251 commonName VAR_025251 VAR_025251 disease not phenotype-associated VAR_025252 commonName VAR_025252 VAR_025252 disease not phenotype-associated VAR_025253 commonName VAR_025253 VAR_025253 disease not phenotype-associated VAR_025254 commonName VAR_025254 VAR_025254 disease not phenotype-associated VAR_025255 commonName VAR_025255 VAR_025255 disease not phenotype-associated VAR_025256 commonName VAR_025256 VAR_025256 disease not phenotype-associated VAR_025257 commonName VAR_025257 VAR_025257 disease not phenotype-associated VAR_025258 commonName VAR_025258 VAR_025258 disease not phenotype-associated VAR_025259 commonName VAR_025259 VAR_025259 disease not phenotype-associated VAR_025260 commonName VAR_025260 VAR_025260 disease not phenotype-associated VAR_025261 commonName VAR_025261 VAR_025261 disease not phenotype-associated VAR_025262 commonName VAR_025262 VAR_025262 disease not phenotype-associated VAR_025263 commonName VAR_025263 VAR_025263 disease not phenotype-associated VAR_025264 commonName VAR_025264 VAR_025264 disease not phenotype-associated VAR_025269 commonName VAR_025269 VAR_025269 disease not phenotype-associated VAR_025270 commonName VAR_025270 VAR_025270 disease not phenotype-associated VAR_025271 commonName VAR_025271 VAR_025271 disease not phenotype-associated VAR_025272 commonName VAR_025272 VAR_025272 disease not phenotype-associated VAR_025273 commonName VAR_025273 VAR_025273 disease not phenotype-associated VAR_025274 commonName VAR_025274 VAR_025274 disease not phenotype-associated VAR_025275 commonName VAR_025275 VAR_025275 disease not phenotype-associated VAR_025277 commonName VAR_025277 VAR_025277 disease not phenotype-associated VAR_025278 commonName VAR_025278 VAR_025278 disease not phenotype-associated VAR_025279 commonName VAR_025279 VAR_025279 disease not phenotype-associated VAR_025280 commonName VAR_025280 VAR_025280 disease phenotype-associated VAR_025280 phenoCommon Cataract congenital nuclear autosomal recessive type 2 (CATCN2) [MIM:609741] VAR_025281 commonName VAR_025281 VAR_025281 disease phenotype-associated VAR_025281 phenoCommon Familial hemiplegic migraine type 3 (FHM3) [MIM:609634] VAR_025282 commonName VAR_025282 VAR_025282 disease phenotype-associated VAR_025282 phenoCommon Abnormal thyroid hormone metabolism (ATHYHM) [MIM:609698] VAR_025283 commonName VAR_025283 VAR_025283 disease not phenotype-associated VAR_025284 commonName VAR_025284 VAR_025284 disease not phenotype-associated VAR_025285 commonName VAR_025285 VAR_025285 disease not phenotype-associated VAR_025286 commonName VAR_025286 VAR_025286 disease not phenotype-associated VAR_025287 commonName VAR_025287 VAR_025287 disease not phenotype-associated VAR_025288 commonName VAR_025288 VAR_025288 disease phenotype-associated VAR_025288 phenoCommon Recessive hereditary megaloblastic anemia 1 (RH-MGA1) [MIM:261100] VAR_025289 commonName VAR_025289 VAR_025289 disease not phenotype-associated VAR_025290 commonName VAR_025290 VAR_025290 disease not phenotype-associated VAR_025291 commonName VAR_025291 VAR_025291 disease not phenotype-associated VAR_025292 commonName VAR_025292 VAR_025292 disease not phenotype-associated VAR_025293 commonName VAR_025293 VAR_025293 disease not phenotype-associated VAR_025294 commonName VAR_025294 VAR_025294 disease not phenotype-associated VAR_025295 commonName VAR_025295 VAR_025295 disease not phenotype-associated VAR_025296 commonName VAR_025296 VAR_025296 disease not phenotype-associated VAR_025297 commonName VAR_025297 VAR_025297 disease not phenotype-associated VAR_025298 commonName VAR_025298 VAR_025298 disease not phenotype-associated VAR_025299 commonName VAR_025299 VAR_025299 disease not phenotype-associated VAR_025300 commonName VAR_025300 VAR_025300 disease not phenotype-associated VAR_025301 commonName VAR_025301 VAR_025301 disease not phenotype-associated VAR_025303 commonName VAR_025303 VAR_025303 disease not phenotype-associated VAR_025304 commonName VAR_025304 VAR_025304 disease not phenotype-associated VAR_025305 commonName VAR_025305 VAR_025305 disease not phenotype-associated VAR_025307 commonName VAR_025307 VAR_025307 disease not phenotype-associated VAR_025308 commonName VAR_025308 VAR_025308 disease not phenotype-associated VAR_025309 commonName VAR_025309 VAR_025309 disease phenotype-associated VAR_025309 phenoCommon Corneal fleck dystrophy (CFD) [MIM:121850] VAR_025310 commonName VAR_025310 VAR_025310 disease not phenotype-associated VAR_025311 commonName VAR_025311 VAR_025311 disease not phenotype-associated VAR_025312 commonName VAR_025312 VAR_025312 disease not phenotype-associated VAR_025313 commonName VAR_025313 VAR_025313 disease not phenotype-associated VAR_025315 commonName VAR_025315 VAR_025315 disease not phenotype-associated VAR_025316 commonName VAR_025316 VAR_025316 disease not phenotype-associated VAR_025317 commonName VAR_025317 VAR_025317 disease not phenotype-associated VAR_025318 commonName VAR_025318 VAR_025318 disease not phenotype-associated VAR_025319 commonName VAR_025319 VAR_025319 disease not phenotype-associated VAR_025320 commonName VAR_025320 VAR_025323 commonName VAR_025323 VAR_025323 disease phenotype-associated VAR_025323 phenoCommon Thyroid dyshormonogenesis 6 (TDH6) [MIM:607200] VAR_025324 commonName VAR_025324 VAR_025324 disease not phenotype-associated VAR_025325 commonName VAR_025325 VAR_025325 disease phenotype-associated VAR_025325 phenoCommon Thyroid dyshormonogenesis 6 (TDH6) [MIM:607200] VAR_025326 commonName VAR_025326 VAR_025326 disease not phenotype-associated VAR_025327 commonName VAR_025327 VAR_025327 disease not phenotype-associated VAR_025328 commonName VAR_025328 VAR_025328 disease not phenotype-associated VAR_025329 commonName VAR_025329 VAR_025329 disease not phenotype-associated VAR_025330 commonName VAR_025330 VAR_025330 disease not phenotype-associated VAR_025331 commonName VAR_025331 VAR_025331 disease not phenotype-associated VAR_025333 commonName VAR_025333 VAR_025333 disease not phenotype-associated VAR_025334 commonName VAR_025334 VAR_025334 disease not phenotype-associated VAR_025335 commonName VAR_025335 VAR_025336 commonName VAR_025336 VAR_025336 disease phenotype-associated VAR_025336 phenoCommon Cyanosis transient neonatal (TNCY) [MIM:613977] VAR_025337 commonName VAR_025337 VAR_025337 disease not phenotype-associated VAR_025338 commonName VAR_025338 VAR_025338 disease not phenotype-associated VAR_025339 commonName VAR_025339 VAR_025339 disease not phenotype-associated VAR_025340 commonName VAR_025340 VAR_025340 disease not phenotype-associated VAR_025341 commonName VAR_025341 VAR_025341 disease not phenotype-associated VAR_025342 commonName VAR_025342 VAR_025342 disease not phenotype-associated VAR_025343 commonName VAR_025343 VAR_025343 disease not phenotype-associated VAR_025344 commonName VAR_025344 VAR_025344 disease not phenotype-associated VAR_025345 commonName VAR_025345 VAR_025345 disease not phenotype-associated VAR_025346 commonName VAR_025346 VAR_025346 disease phenotype-associated VAR_025346 phenoCommon MASP2 deficiency (MASPD) [MIM:613791] VAR_025347 commonName VAR_025347 VAR_025347 disease phenotype-associated VAR_025347 phenoCommon MASP2 deficiency (MASPD) [MIM:613791] VAR_025349 commonName VAR_025349 VAR_025349 disease not phenotype-associated VAR_025352 commonName VAR_025352 VAR_025352 disease not phenotype-associated VAR_025354 commonName VAR_025354 VAR_025355 commonName VAR_025355 VAR_025355 disease not phenotype-associated VAR_025356 comment A sporadic colorectal carcinoma VAR_025356 commonName VAR_025356 VAR_025357 comment A renal cell carcinoma cell line VAR_025357 commonName VAR_025357 VAR_025358 comment A primary colorectal cancer VAR_025358 commonName VAR_025358 VAR_025359 comment A primary colorectal cancer VAR_025359 commonName VAR_025359 VAR_025360 comment A primary clear-cell renal cell carcinoma VAR_025360 commonName VAR_025360 VAR_025361 comment A sporadic colorectal carcinoma VAR_025361 commonName VAR_025361 VAR_025362 commonName VAR_025362 VAR_025362 disease not phenotype-associated VAR_025363 commonName VAR_025363 VAR_025363 disease not phenotype-associated VAR_025364 commonName VAR_025364 VAR_025364 disease not phenotype-associated VAR_025365 commonName VAR_025365 VAR_025365 disease phenotype-associated VAR_025365 phenoCommon Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] VAR_025366 commonName VAR_025366 VAR_025366 disease phenotype-associated VAR_025366 phenoCommon Familial febrile convulsions type 3A (FEB3A) [MIM:604403] VAR_025367 commonName VAR_025367 VAR_025367 disease not phenotype-associated VAR_025368 commonName VAR_025368 VAR_025368 disease phenotype-associated VAR_025368 phenoCommon Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] VAR_025369 commonName VAR_025369 VAR_025369 disease not phenotype-associated VAR_025370 commonName VAR_025370 VAR_025370 disease phenotype-associated VAR_025370 phenoCommon Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] VAR_025371 commonName VAR_025371 VAR_025371 disease phenotype-associated VAR_025371 phenoCommon Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] VAR_025372 commonName VAR_025372 VAR_025372 disease phenotype-associated VAR_025372 phenoCommon Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] VAR_025373 commonName VAR_025373 VAR_025373 disease phenotype-associated VAR_025373 phenoCommon Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] VAR_025374 commonName VAR_025374 VAR_025374 disease phenotype-associated VAR_025374 phenoCommon Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] VAR_025375 commonName VAR_025375 VAR_025375 disease phenotype-associated VAR_025375 phenoCommon Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] VAR_025376 commonName VAR_025376 VAR_025376 disease phenotype-associated VAR_025376 phenoCommon Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] VAR_025377 commonName VAR_025377 VAR_025377 disease phenotype-associated VAR_025377 phenoCommon Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] VAR_025378 commonName VAR_025378 VAR_025378 disease not phenotype-associated VAR_025379 commonName VAR_025379 VAR_025379 disease phenotype-associated VAR_025379 phenoCommon Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] VAR_025380 commonName VAR_025380 VAR_025380 disease phenotype-associated VAR_025380 phenoCommon Cockayne syndrome type A (CSA) [MIM:216400] VAR_025381 commonName VAR_025381 VAR_025381 disease phenotype-associated VAR_025381 phenoCommon Cockayne syndrome type A (CSA) [MIM:216400] VAR_025383 commonName VAR_025383 VAR_025383 disease phenotype-associated VAR_025383 phenoCommon Bleeding disorder platelet-type 8 (BDPLT8) [MIM:609821] VAR_025384 commonName VAR_025384 VAR_025384 disease phenotype-associated VAR_025384 phenoCommon Bleeding disorder platelet-type 8 (BDPLT8) [MIM:609821] VAR_025385 commonName VAR_025385 VAR_025385 disease not phenotype-associated VAR_025386 commonName VAR_025386 VAR_025386 disease not phenotype-associated VAR_025387 commonName VAR_025387 VAR_025388 commonName VAR_025388 VAR_025389 commonName VAR_025389 VAR_025390 commonName VAR_025390 VAR_025391 commonName VAR_025391 VAR_025392 commonName VAR_025392 VAR_025393 commonName VAR_025393 VAR_025394 commonName VAR_025394 VAR_025395 commonName VAR_025395 VAR_025396 commonName VAR_025396 VAR_025397 commonName VAR_025397 VAR_025398 commonName VAR_025398 VAR_025399 commonName VAR_025399 VAR_025403 commonName VAR_025403 VAR_025403 disease not phenotype-associated VAR_025404 commonName VAR_025404 VAR_025404 disease not phenotype-associated VAR_025405 commonName VAR_025405 VAR_025405 disease not phenotype-associated VAR_025410 commonName VAR_025410 VAR_025410 disease not phenotype-associated VAR_025411 commonName VAR_025411 VAR_025411 disease not phenotype-associated VAR_025412 commonName VAR_025412 VAR_025412 disease not phenotype-associated VAR_025413 commonName VAR_025413 VAR_025413 disease not phenotype-associated VAR_025414 commonName VAR_025414 VAR_025414 disease not phenotype-associated VAR_025415 commonName VAR_025415 VAR_025415 disease not phenotype-associated VAR_025416 commonName VAR_025416 VAR_025416 disease phenotype-associated VAR_025416 phenoCommon Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] VAR_025417 commonName VAR_025417 VAR_025417 disease not phenotype-associated VAR_025418 commonName VAR_025418 VAR_025418 disease not phenotype-associated VAR_025419 commonName VAR_025419 VAR_025419 disease not phenotype-associated VAR_025420 commonName VAR_025420 VAR_025420 disease not phenotype-associated VAR_025423 commonName VAR_025423 VAR_025423 disease not phenotype-associated VAR_025424 commonName VAR_025424 VAR_025424 disease not phenotype-associated VAR_025425 commonName VAR_025425 VAR_025425 disease not phenotype-associated VAR_025427 commonName VAR_025427 VAR_025427 disease not phenotype-associated VAR_025428 commonName VAR_025428 VAR_025428 disease not phenotype-associated VAR_025429 commonName VAR_025429 VAR_025429 disease not phenotype-associated VAR_025430 commonName VAR_025430 VAR_025430 disease not phenotype-associated VAR_025431 commonName VAR_025431 VAR_025431 disease not phenotype-associated VAR_025432 commonName VAR_025432 VAR_025432 disease not phenotype-associated VAR_025433 commonName VAR_025433 VAR_025433 disease not phenotype-associated VAR_025434 commonName VAR_025434 VAR_025434 disease not phenotype-associated VAR_025435 commonName VAR_025435 VAR_025435 disease not phenotype-associated VAR_025436 commonName VAR_025436 VAR_025436 disease not phenotype-associated VAR_025437 commonName VAR_025437 VAR_025437 disease not phenotype-associated VAR_025438 commonName VAR_025438 VAR_025438 disease not phenotype-associated VAR_025439 commonName VAR_025439 VAR_025439 disease not phenotype-associated VAR_025440 commonName VAR_025440 VAR_025440 disease not phenotype-associated VAR_025441 commonName VAR_025441 VAR_025441 disease not phenotype-associated VAR_025443 commonName VAR_025443 VAR_025443 disease not phenotype-associated VAR_025444 commonName VAR_025444 VAR_025444 disease not phenotype-associated VAR_025445 commonName VAR_025445 VAR_025445 disease not phenotype-associated VAR_025446 commonName VAR_025446 VAR_025446 disease not phenotype-associated VAR_025447 commonName VAR_025447 VAR_025447 disease not phenotype-associated VAR_025448 commonName VAR_025448 VAR_025448 disease not phenotype-associated VAR_025449 commonName VAR_025449 VAR_025449 disease not phenotype-associated VAR_025450 commonName VAR_025450 VAR_025450 disease not phenotype-associated VAR_025451 commonName VAR_025451 VAR_025451 disease not phenotype-associated VAR_025452 commonName VAR_025452 VAR_025452 disease not phenotype-associated VAR_025453 commonName VAR_025453 VAR_025453 disease not phenotype-associated VAR_025454 commonName VAR_025454 VAR_025454 disease not phenotype-associated VAR_025455 commonName VAR_025455 VAR_025455 disease not phenotype-associated VAR_025456 commonName VAR_025456 VAR_025456 disease not phenotype-associated VAR_025457 commonName VAR_025457 VAR_025457 disease not phenotype-associated VAR_025458 commonName VAR_025458 VAR_025458 disease not phenotype-associated VAR_025459 commonName VAR_025459 VAR_025459 disease not phenotype-associated VAR_025460 commonName VAR_025460 VAR_025460 disease phenotype-associated VAR_025460 phenoCommon Retinitis pigmentosa type 43 (RP43) [MIM:613810] VAR_025461 commonName VAR_025461 VAR_025461 disease phenotype-associated VAR_025461 phenoCommon Retinitis pigmentosa type 43 (RP43) [MIM:613810] VAR_025462 commonName VAR_025462 VAR_025462 disease not phenotype-associated VAR_025463 commonName VAR_025463 VAR_025463 disease not phenotype-associated VAR_025464 commonName VAR_025464 VAR_025464 disease not phenotype-associated VAR_025465 commonName VAR_025465 VAR_025465 disease not phenotype-associated VAR_025466 commonName VAR_025466 VAR_025466 disease phenotype-associated VAR_025466 phenoCommon Retinitis pigmentosa type 43 (RP43) [MIM:613810] VAR_025467 commonName VAR_025467 VAR_025467 disease phenotype-associated VAR_025467 phenoCommon Retinitis pigmentosa type 43 (RP43) [MIM:613810] VAR_025468 commonName VAR_025468 VAR_025468 disease not phenotype-associated VAR_025469 commonName VAR_025469 VAR_025469 disease not phenotype-associated VAR_025470 commonName VAR_025470 VAR_025470 disease not phenotype-associated VAR_025471 commonName VAR_025471 VAR_025471 disease not phenotype-associated VAR_025472 commonName VAR_025472 VAR_025472 disease not phenotype-associated VAR_025473 commonName VAR_025473 VAR_025473 disease not phenotype-associated VAR_025474 commonName VAR_025474 VAR_025474 disease phenotype-associated VAR_025474 phenoCommon Meckel syndrome type 3 (MKS3) [MIM:607361] VAR_025475 commonName VAR_025475 VAR_025475 disease not phenotype-associated VAR_025476 commonName VAR_025476 VAR_025476 disease not phenotype-associated VAR_025477 commonName VAR_025477 VAR_025477 disease not phenotype-associated VAR_025478 commonName VAR_025478 VAR_025478 disease not phenotype-associated VAR_025479 commonName VAR_025479 VAR_025479 disease not phenotype-associated VAR_025480 commonName VAR_025480 VAR_025481 commonName VAR_025481 VAR_025481 disease not phenotype-associated VAR_025482 commonName VAR_025482 VAR_025482 disease not phenotype-associated VAR_025483 commonName VAR_025483 VAR_025483 disease not phenotype-associated VAR_025484 commonName VAR_025484 VAR_025487 commonName VAR_025487 VAR_025487 disease not phenotype-associated VAR_025488 commonName VAR_025488 VAR_025488 disease not phenotype-associated VAR_025489 commonName VAR_025489 VAR_025489 disease phenotype-associated VAR_025489 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_025490 commonName VAR_025490 VAR_025490 disease phenotype-associated VAR_025490 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_025491 commonName VAR_025491 VAR_025491 disease phenotype-associated VAR_025491 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_025492 commonName VAR_025492 VAR_025492 disease phenotype-associated VAR_025492 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_025493 commonName VAR_025493 VAR_025493 disease phenotype-associated VAR_025493 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_025494 commonName VAR_025494 VAR_025494 disease phenotype-associated VAR_025494 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_025495 commonName VAR_025495 VAR_025495 disease phenotype-associated VAR_025495 phenoCommon Opitz syndrome type I (OS-I) [MIM:300000] VAR_025497 commonName VAR_025497 VAR_025497 disease not phenotype-associated VAR_025498 commonName VAR_025498 VAR_025498 disease not phenotype-associated VAR_025499 commonName VAR_025499 VAR_025499 disease not phenotype-associated VAR_025500 commonName VAR_025500 VAR_025500 disease not phenotype-associated VAR_025501 commonName VAR_025501 VAR_025501 disease not phenotype-associated VAR_025502 commonName VAR_025502 VAR_025502 disease not phenotype-associated VAR_025503 commonName VAR_025503 VAR_025503 disease not phenotype-associated VAR_025504 commonName VAR_025504 VAR_025504 disease not phenotype-associated VAR_025505 commonName VAR_025505 VAR_025505 disease not phenotype-associated VAR_025506 commonName VAR_025506 VAR_025506 disease not phenotype-associated VAR_025507 commonName VAR_025507 VAR_025507 disease not phenotype-associated VAR_025508 commonName VAR_025508 VAR_025508 disease not phenotype-associated VAR_025509 commonName VAR_025509 VAR_025509 disease not phenotype-associated VAR_025510 commonName VAR_025510 VAR_025510 disease not phenotype-associated VAR_025511 commonName VAR_025511 VAR_025511 disease not phenotype-associated VAR_025512 commonName VAR_025512 VAR_025512 disease not phenotype-associated VAR_025513 commonName VAR_025513 VAR_025513 disease not phenotype-associated VAR_025514 commonName VAR_025514 VAR_025514 disease not phenotype-associated VAR_025515 commonName VAR_025515 VAR_025515 disease not phenotype-associated VAR_025516 commonName VAR_025516 VAR_025516 disease not phenotype-associated VAR_025517 commonName VAR_025517 VAR_025517 disease not phenotype-associated VAR_025518 commonName VAR_025518 VAR_025518 disease not phenotype-associated VAR_025520 commonName VAR_025520 VAR_025520 disease not phenotype-associated VAR_025521 commonName VAR_025521 VAR_025521 disease not phenotype-associated VAR_025522 commonName VAR_025522 VAR_025522 disease not phenotype-associated VAR_025523 commonName VAR_025523 VAR_025523 disease not phenotype-associated VAR_025524 commonName VAR_025524 VAR_025524 disease phenotype-associated VAR_025524 phenoCommon Achromatopsia type 3 (ACHM3) [MIM:262300] VAR_025525 commonName VAR_025525 VAR_025525 disease not phenotype-associated VAR_025526 commonName VAR_025526 VAR_025526 disease not phenotype-associated VAR_025527 commonName VAR_025527 VAR_025527 disease not phenotype-associated VAR_025528 comment Ovarian cancer VAR_025528 commonName VAR_025528 VAR_025529 commonName VAR_025529 VAR_025529 disease not phenotype-associated VAR_025530 commonName VAR_025530 VAR_025530 disease not phenotype-associated VAR_025531 commonName VAR_025531 VAR_025531 disease not phenotype-associated VAR_025532 commonName VAR_025532 VAR_025532 disease not phenotype-associated VAR_025533 commonName VAR_025533 VAR_025533 disease not phenotype-associated VAR_025535 commonName VAR_025535 VAR_025535 disease not phenotype-associated VAR_025536 commonName VAR_025536 VAR_025536 disease not phenotype-associated VAR_025537 commonName VAR_025537 VAR_025537 disease not phenotype-associated VAR_025538 commonName VAR_025538 VAR_025538 disease not phenotype-associated VAR_025539 commonName VAR_025539 VAR_025539 disease not phenotype-associated VAR_025540 commonName VAR_025540 VAR_025540 disease not phenotype-associated VAR_025541 commonName VAR_025541 VAR_025541 disease not phenotype-associated VAR_025542 commonName VAR_025542 VAR_025542 disease not phenotype-associated VAR_025545 commonName VAR_025545 VAR_025545 disease not phenotype-associated VAR_025546 commonName VAR_025546 VAR_025546 disease not phenotype-associated VAR_025547 commonName VAR_025547 VAR_025547 disease not phenotype-associated VAR_025548 commonName VAR_025548 VAR_025548 disease not phenotype-associated VAR_025549 commonName VAR_025549 VAR_025549 disease not phenotype-associated VAR_025550 commonName VAR_025550 VAR_025550 disease not phenotype-associated VAR_025551 commonName VAR_025551 VAR_025551 disease not phenotype-associated VAR_025552 commonName VAR_025552 VAR_025552 disease not phenotype-associated VAR_025553 commonName VAR_025553 VAR_025553 disease not phenotype-associated VAR_025554 commonName VAR_025554 VAR_025554 disease not phenotype-associated VAR_025555 commonName VAR_025555 VAR_025555 disease not phenotype-associated VAR_025556 commonName VAR_025556 VAR_025556 disease not phenotype-associated VAR_025557 commonName VAR_025557 VAR_025557 disease not phenotype-associated VAR_025558 commonName VAR_025558 VAR_025558 disease phenotype-associated VAR_025558 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_025559 commonName VAR_025559 VAR_025559 disease phenotype-associated VAR_025559 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_025560 commonName VAR_025560 VAR_025560 disease phenotype-associated VAR_025560 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_025561 commonName VAR_025561 VAR_025561 disease phenotype-associated VAR_025561 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_025562 commonName VAR_025562 VAR_025562 disease phenotype-associated VAR_025562 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_025563 commonName VAR_025563 VAR_025563 disease phenotype-associated VAR_025563 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_025564 commonName VAR_025564 VAR_025564 disease phenotype-associated VAR_025564 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_025565 commonName VAR_025565 VAR_025565 disease phenotype-associated VAR_025565 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_025567 commonName VAR_025567 VAR_025567 disease phenotype-associated VAR_025567 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_025568 commonName VAR_025568 VAR_025568 disease phenotype-associated VAR_025568 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_025569 commonName VAR_025569 VAR_025569 disease phenotype-associated VAR_025569 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_025570 commonName VAR_025570 VAR_025570 disease phenotype-associated VAR_025570 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_025571 commonName VAR_025571 VAR_025571 disease phenotype-associated VAR_025571 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_025572 commonName VAR_025572 VAR_025572 disease phenotype-associated VAR_025572 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_025573 commonName VAR_025573 VAR_025573 disease phenotype-associated VAR_025573 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_025574 commonName VAR_025574 VAR_025574 disease phenotype-associated VAR_025574 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_025575 commonName VAR_025575 VAR_025575 disease phenotype-associated VAR_025575 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_025576 commonName VAR_025576 VAR_025576 disease phenotype-associated VAR_025576 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_025577 commonName VAR_025577 VAR_025577 disease phenotype-associated VAR_025577 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_025578 commonName VAR_025578 VAR_025578 disease phenotype-associated VAR_025578 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_025579 commonName VAR_025579 VAR_025579 disease phenotype-associated VAR_025579 phenoCommon Acute intermittent porphyria (AIP) [MIM:176000] VAR_025581 commonName VAR_025581 VAR_025581 disease phenotype-associated VAR_025581 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220] VAR_025582 commonName VAR_025582 VAR_025582 disease phenotype-associated VAR_025582 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220] VAR_025583 commonName VAR_025583 VAR_025583 disease phenotype-associated VAR_025583 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220] VAR_025584 commonName VAR_025584 VAR_025584 disease phenotype-associated VAR_025584 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220] VAR_025585 commonName VAR_025585 VAR_025585 disease phenotype-associated VAR_025585 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220] VAR_025586 commonName VAR_025586 VAR_025586 disease phenotype-associated VAR_025586 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220] VAR_025587 commonName VAR_025587 VAR_025587 disease phenotype-associated VAR_025587 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220] VAR_025588 commonName VAR_025588 VAR_025588 disease phenotype-associated VAR_025588 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220] VAR_025589 commonName VAR_025589 VAR_025589 disease phenotype-associated VAR_025589 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220] VAR_025590 commonName VAR_025590 VAR_025590 disease phenotype-associated VAR_025590 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220] VAR_025591 commonName VAR_025591 VAR_025591 disease phenotype-associated VAR_025591 phenoCommon Glycogen storage disease type 1C (GSD1C) [MIM:232240] VAR_025592 commonName VAR_025592 VAR_025592 disease phenotype-associated VAR_025592 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220] VAR_025593 commonName VAR_025593 VAR_025593 disease phenotype-associated VAR_025593 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220] VAR_025594 commonName VAR_025594 VAR_025594 disease phenotype-associated VAR_025594 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220] VAR_025595 commonName VAR_025595 VAR_025595 disease phenotype-associated VAR_025595 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220] VAR_025596 commonName VAR_025596 VAR_025596 disease not phenotype-associated VAR_025597 commonName VAR_025597 VAR_025597 disease phenotype-associated VAR_025597 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220] VAR_025598 commonName VAR_025598 VAR_025598 disease phenotype-associated VAR_025598 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220] VAR_025599 commonName VAR_025599 VAR_025599 disease phenotype-associated VAR_025599 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220] VAR_025600 commonName VAR_025600 VAR_025600 disease phenotype-associated VAR_025600 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220] VAR_025601 commonName VAR_025601 VAR_025601 disease phenotype-associated VAR_025601 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220] VAR_025602 commonName VAR_025602 VAR_025602 disease phenotype-associated VAR_025602 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220] VAR_025603 commonName VAR_025603 VAR_025603 disease phenotype-associated VAR_025603 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220] VAR_025604 commonName VAR_025604 VAR_025604 disease phenotype-associated VAR_025604 phenoCommon Glycogen storage disease type 1C (GSD1C) [MIM:232240] VAR_025605 commonName VAR_025605 VAR_025605 disease phenotype-associated VAR_025605 phenoCommon Alzheimer disease type 3 (AD3) [MIM:607822] VAR_025606 commonName VAR_025606 VAR_025606 disease not phenotype-associated VAR_025607 commonName VAR_025607 VAR_025607 disease not phenotype-associated VAR_025608 commonName VAR_025608 VAR_025608 disease not phenotype-associated VAR_025609 commonName VAR_025609 VAR_025609 disease not phenotype-associated VAR_025610 commonName VAR_025610 VAR_025610 disease not phenotype-associated VAR_025611 commonName VAR_025611 VAR_025611 disease not phenotype-associated VAR_025612 commonName VAR_025612 VAR_025612 disease not phenotype-associated VAR_025613 commonName VAR_025613 VAR_025613 disease phenotype-associated VAR_025613 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] VAR_025614 commonName VAR_025614 VAR_025614 disease phenotype-associated VAR_025614 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] VAR_025615 commonName VAR_025615 VAR_025615 disease phenotype-associated VAR_025615 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] VAR_025616 commonName VAR_025616 VAR_025616 disease phenotype-associated VAR_025616 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] VAR_025617 commonName VAR_025617 VAR_025617 disease phenotype-associated VAR_025617 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] VAR_025625 commonName VAR_025625 VAR_025625 disease not phenotype-associated VAR_025626 commonName VAR_025626 VAR_025626 disease not phenotype-associated VAR_025628 commonName VAR_025628 VAR_025628 disease not phenotype-associated VAR_025630 commonName VAR_025630 VAR_025630 disease phenotype-associated VAR_025630 phenoCommon Retinitis pigmentosa type 11 (RP11) [MIM:600138] VAR_025631 commonName VAR_025631 VAR_025631 disease phenotype-associated VAR_025631 phenoCommon Retinitis pigmentosa type 11 (RP11) [MIM:600138] VAR_025632 commonName VAR_025632 VAR_025633 commonName VAR_025633 VAR_025633 disease phenotype-associated VAR_025633 phenoCommon Visceral heterotaxy X-linked type 1 (HTX1) [MIM:306955] VAR_025634 commonName VAR_025634 VAR_025634 disease phenotype-associated VAR_025634 phenoCommon Visceral heterotaxy X-linked type 1 (HTX1) [MIM:306955] VAR_025635 commonName VAR_025635 VAR_025635 disease phenotype-associated VAR_025635 phenoCommon Visceral heterotaxy X-linked type 1 (HTX1) [MIM:306955] VAR_025636 commonName VAR_025636 VAR_025636 disease not phenotype-associated VAR_025637 commonName VAR_025637 VAR_025637 disease not phenotype-associated VAR_025638 commonName VAR_025638 VAR_025638 disease not phenotype-associated VAR_025639 commonName VAR_025639 VAR_025639 disease not phenotype-associated VAR_025640 commonName VAR_025640 VAR_025640 disease not phenotype-associated VAR_025641 commonName VAR_025641 VAR_025641 disease not phenotype-associated VAR_025642 commonName VAR_025642 VAR_025642 disease not phenotype-associated VAR_025643 commonName VAR_025643 VAR_025643 disease not phenotype-associated VAR_025644 commonName VAR_025644 VAR_025644 disease not phenotype-associated VAR_025645 commonName VAR_025645 VAR_025645 disease not phenotype-associated VAR_025647 commonName VAR_025647 VAR_025647 disease not phenotype-associated VAR_025648 commonName VAR_025648 VAR_025648 disease not phenotype-associated VAR_025649 commonName VAR_025649 VAR_025649 disease not phenotype-associated VAR_025650 commonName VAR_025650 VAR_025650 disease not phenotype-associated VAR_025651 commonName VAR_025651 VAR_025651 disease not phenotype-associated VAR_025652 commonName VAR_025652 VAR_025652 disease not phenotype-associated VAR_025653 commonName VAR_025653 VAR_025653 disease not phenotype-associated VAR_025654 commonName VAR_025654 VAR_025654 disease not phenotype-associated VAR_025655 commonName VAR_025655 VAR_025656 commonName VAR_025656 VAR_025656 disease not phenotype-associated VAR_025657 commonName VAR_025657 VAR_025657 disease not phenotype-associated VAR_025658 commonName VAR_025658 VAR_025658 disease not phenotype-associated VAR_025659 commonName VAR_025659 VAR_025659 disease not phenotype-associated VAR_025660 commonName VAR_025660 VAR_025660 disease not phenotype-associated VAR_025661 commonName VAR_025661 VAR_025661 disease not phenotype-associated VAR_025662 commonName VAR_025662 VAR_025662 disease not phenotype-associated VAR_025663 commonName VAR_025663 VAR_025663 disease not phenotype-associated VAR_025664 commonName VAR_025664 VAR_025664 disease not phenotype-associated VAR_025665 commonName VAR_025665 VAR_025665 disease not phenotype-associated VAR_025666 commonName VAR_025666 VAR_025666 disease phenotype-associated VAR_025666 phenoCommon Stueve-Wiedemann syndrome (SWS) [MIM:601559] VAR_025668 commonName VAR_025668 VAR_025668 disease not phenotype-associated VAR_025669 commonName VAR_025669 VAR_025669 disease not phenotype-associated VAR_025670 commonName VAR_025670 VAR_025670 disease not phenotype-associated VAR_025671 commonName VAR_025671 VAR_025671 disease not phenotype-associated VAR_025672 commonName VAR_025672 VAR_025672 disease not phenotype-associated VAR_025673 commonName VAR_025673 VAR_025673 disease not phenotype-associated VAR_025674 commonName VAR_025674 VAR_025674 disease not phenotype-associated VAR_025675 commonName VAR_025675 VAR_025675 disease not phenotype-associated VAR_025676 commonName VAR_025676 VAR_025676 disease not phenotype-associated VAR_025677 commonName VAR_025677 VAR_025677 disease not phenotype-associated VAR_025678 commonName VAR_025678 VAR_025678 disease not phenotype-associated VAR_025679 commonName VAR_025679 VAR_025679 disease not phenotype-associated VAR_025681 commonName VAR_025681 VAR_025681 disease not phenotype-associated VAR_025682 commonName VAR_025682 VAR_025682 disease phenotype-associated VAR_025682 phenoCommon L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792] VAR_025683 commonName VAR_025683 VAR_025683 disease phenotype-associated VAR_025683 phenoCommon L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792] VAR_025684 commonName VAR_025684 VAR_025684 disease phenotype-associated VAR_025684 phenoCommon L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792] VAR_025685 commonName VAR_025685 HbVar.679 ethnic Black VAR_025685 disease phenotype-associated VAR_025685 phenoCommon L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792] VAR_025686 commonName VAR_025686 VAR_025686 disease phenotype-associated VAR_025686 phenoCommon L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792] VAR_025687 commonName VAR_025687 VAR_025687 disease phenotype-associated VAR_025687 phenoCommon L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792] VAR_025688 commonName VAR_025688 VAR_025688 disease not phenotype-associated VAR_025689 commonName VAR_025689 VAR_025689 disease phenotype-associated VAR_025689 phenoCommon L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792] VAR_025690 commonName VAR_025690 VAR_025690 disease phenotype-associated VAR_025690 phenoCommon L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792] VAR_025691 commonName VAR_025691 VAR_025691 disease not phenotype-associated VAR_025692 commonName VAR_025692 VAR_025692 disease not phenotype-associated VAR_025693 commonName VAR_025693 VAR_025693 disease not phenotype-associated VAR_025694 commonName VAR_025694 VAR_025694 disease phenotype-associated VAR_025694 phenoCommon Nanophthalmos 2 (NNO2) [MIM:609549] VAR_025695 commonName VAR_025695 VAR_025695 disease not phenotype-associated VAR_025696 commonName VAR_025696 VAR_025696 disease not phenotype-associated VAR_025697 commonName VAR_025697 VAR_025697 disease not phenotype-associated VAR_025698 commonName VAR_025698 VAR_025698 disease not phenotype-associated VAR_025699 comment Colorectal adenocarcinomas cell line VAR_025699 commonName VAR_025699 VAR_025701 commonName VAR_025701 VAR_025701 disease phenotype-associated VAR_025701 phenoCommon Coenzyme Q10 deficiency, primary, type 1 (COQ10D1) [MIM:607426] VAR_025702 commonName VAR_025702 VAR_025702 disease not phenotype-associated VAR_025703 commonName VAR_025703 VAR_025703 disease not phenotype-associated VAR_025704 commonName VAR_025704 VAR_025704 disease phenotype-associated VAR_025704 phenoCommon Severe combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID) [MIM:611291] VAR_025705 commonName VAR_025705 VAR_025705 disease phenotype-associated VAR_025705 phenoCommon Severe combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID) [MIM:611291] VAR_025706 commonName VAR_025706 VAR_025706 disease not phenotype-associated VAR_025707 commonName VAR_025707 VAR_025707 disease phenotype-associated VAR_025707 phenoCommon Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530] VAR_025708 commonName VAR_025708 VAR_025708 disease not phenotype-associated VAR_025709 commonName VAR_025709 VAR_025709 disease phenotype-associated VAR_025709 phenoCommon Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530] VAR_025710 commonName VAR_025710 VAR_025710 disease phenotype-associated VAR_025710 phenoCommon Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530] VAR_025711 commonName VAR_025711 VAR_025711 disease not phenotype-associated VAR_025712 commonName VAR_025712 VAR_025712 disease not phenotype-associated VAR_025713 commonName VAR_025713 VAR_025713 disease phenotype-associated VAR_025713 phenoCommon Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530] VAR_025714 commonName VAR_025714 VAR_025714 disease phenotype-associated VAR_025714 phenoCommon Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530] VAR_025715 commonName VAR_025715 VAR_025715 disease phenotype-associated VAR_025715 phenoCommon Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530] VAR_025716 commonName VAR_025716 VAR_025716 disease not phenotype-associated VAR_025717 commonName VAR_025717 VAR_025717 disease not phenotype-associated VAR_025718 commonName VAR_025718 VAR_025718 disease not phenotype-associated VAR_025719 commonName VAR_025719 VAR_025719 disease phenotype-associated VAR_025719 phenoCommon Deafness autosomal recessive type 28 (DFNB28) [MIM:609823] VAR_025720 commonName VAR_025720 VAR_025720 disease not phenotype-associated VAR_025721 commonName VAR_025721 VAR_025721 disease not phenotype-associated VAR_025722 commonName VAR_025722 VAR_025722 disease not phenotype-associated VAR_025723 commonName VAR_025723 VAR_025723 disease not phenotype-associated VAR_025727 commonName VAR_025727 VAR_025727 disease not phenotype-associated VAR_025728 commonName VAR_025728 VAR_025728 disease not phenotype-associated VAR_025729 commonName VAR_025729 VAR_025729 disease not phenotype-associated VAR_025730 commonName VAR_025730 VAR_025730 disease not phenotype-associated VAR_025731 commonName VAR_025731 VAR_025732 commonName VAR_025732 VAR_025732 disease phenotype-associated VAR_025732 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_025733 commonName VAR_025733 VAR_025733 disease phenotype-associated VAR_025733 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_025734 commonName VAR_025734 VAR_025734 disease phenotype-associated VAR_025734 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_025735 commonName VAR_025735 VAR_025735 disease phenotype-associated VAR_025735 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_025736 commonName VAR_025736 VAR_025737 commonName VAR_025737 VAR_025737 disease phenotype-associated VAR_025737 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_025738 commonName VAR_025738 VAR_025738 disease phenotype-associated VAR_025738 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_025739 commonName VAR_025739 VAR_025739 disease phenotype-associated VAR_025739 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_025740 commonName VAR_025740 VAR_025741 commonName VAR_025741 VAR_025741 disease phenotype-associated VAR_025741 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_025742 commonName VAR_025742 VAR_025742 disease phenotype-associated VAR_025742 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_025743 commonName VAR_025743 VAR_025743 disease phenotype-associated VAR_025743 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_025744 commonName VAR_025744 VAR_025744 disease phenotype-associated VAR_025744 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_025745 commonName VAR_025745 VAR_025745 disease phenotype-associated VAR_025745 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_025746 commonName VAR_025746 VAR_025746 disease phenotype-associated VAR_025746 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_025747 commonName VAR_025747 VAR_025747 disease phenotype-associated VAR_025747 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_025748 commonName VAR_025748 VAR_025748 disease phenotype-associated VAR_025748 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_025749 commonName VAR_025749 VAR_025749 disease phenotype-associated VAR_025749 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_025750 commonName VAR_025750 VAR_025750 disease phenotype-associated VAR_025750 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_025751 commonName VAR_025751 VAR_025751 disease phenotype-associated VAR_025751 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_025752 commonName VAR_025752 VAR_025752 disease phenotype-associated VAR_025752 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_025753 commonName VAR_025753 VAR_025753 disease phenotype-associated VAR_025753 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_025754 commonName VAR_025754 VAR_025754 disease not phenotype-associated VAR_025755 commonName VAR_025755 VAR_025755 disease not phenotype-associated VAR_025756 commonName VAR_025756 VAR_025756 disease not phenotype-associated VAR_025757 commonName VAR_025757 VAR_025757 disease not phenotype-associated VAR_025758 commonName VAR_025758 VAR_025758 disease not phenotype-associated VAR_025759 commonName VAR_025759 VAR_025759 disease not phenotype-associated VAR_025760 commonName VAR_025760 VAR_025760 disease not phenotype-associated VAR_025761 commonName VAR_025761 VAR_025761 disease phenotype-associated VAR_025761 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_025762 commonName VAR_025762 VAR_025762 disease phenotype-associated VAR_025762 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_025763 commonName VAR_025763 VAR_025763 disease phenotype-associated VAR_025763 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_025764 commonName VAR_025764 VAR_025764 disease phenotype-associated VAR_025764 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_025765 commonName VAR_025765 VAR_025765 disease phenotype-associated VAR_025765 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_025766 commonName VAR_025766 VAR_025766 disease phenotype-associated VAR_025766 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_025767 commonName VAR_025767 VAR_025767 disease phenotype-associated VAR_025767 phenoCommon Retinitis pigmentosa type 39 (RP39) [MIM:613809] VAR_025767 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_025768 commonName VAR_025768 VAR_025768 disease phenotype-associated VAR_025768 phenoCommon Retinitis pigmentosa type 39 (RP39) [MIM:613809] VAR_025768 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_025769 commonName VAR_025769 VAR_025769 disease phenotype-associated VAR_025769 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_025770 commonName VAR_025770 VAR_025770 disease phenotype-associated VAR_025770 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_025771 commonName VAR_025771 VAR_025771 disease phenotype-associated VAR_025771 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_025772 commonName VAR_025772 VAR_025772 disease not phenotype-associated VAR_025773 commonName VAR_025773 VAR_025773 disease not phenotype-associated VAR_025774 commonName VAR_025774 VAR_025774 disease phenotype-associated VAR_025774 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_025775 commonName VAR_025775 VAR_025775 disease phenotype-associated VAR_025775 phenoCommon Retinitis pigmentosa type 39 (RP39) [MIM:613809] VAR_025775 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_025776 commonName VAR_025776 VAR_025776 disease phenotype-associated VAR_025776 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_025777 commonName VAR_025777 VAR_025777 disease not phenotype-associated VAR_025778 commonName VAR_025778 VAR_025778 disease not phenotype-associated VAR_025779 commonName VAR_025779 VAR_025779 disease phenotype-associated VAR_025779 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_025780 commonName VAR_025780 VAR_025780 disease phenotype-associated VAR_025780 phenoCommon Retinitis pigmentosa type 39 (RP39) [MIM:613809] VAR_025780 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_025781 commonName VAR_025781 VAR_025782 commonName VAR_025782 VAR_025782 disease not phenotype-associated VAR_025783 commonName VAR_025783 VAR_025783 disease not phenotype-associated VAR_025784 commonName VAR_025784 VAR_025784 disease phenotype-associated VAR_025784 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] VAR_025786 commonName VAR_025786 VAR_025786 disease not phenotype-associated VAR_025787 commonName VAR_025787 VAR_025787 disease not phenotype-associated VAR_025788 commonName VAR_025788 VAR_025788 disease not phenotype-associated VAR_025789 commonName VAR_025789 VAR_025789 disease phenotype-associated VAR_025789 phenoCommon Adrenoleukodystrophy pseudoneonatal (Pseudo-NALD) [MIM:264470] VAR_025790 commonName VAR_025790 VAR_025790 disease phenotype-associated VAR_025790 phenoCommon Adrenoleukodystrophy pseudoneonatal (Pseudo-NALD) [MIM:264470] VAR_025791 commonName VAR_025791 VAR_025791 disease not phenotype-associated VAR_025792 commonName VAR_025792 VAR_025793 commonName VAR_025793 VAR_025794 commonName VAR_025794 VAR_025794 disease not phenotype-associated VAR_025795 commonName VAR_025795 VAR_025795 disease phenotype-associated VAR_025795 phenoCommon Breast cancer (BC) [MIM:114480] VAR_025796 commonName VAR_025796 VAR_025797 commonName VAR_025797 VAR_025797 disease not phenotype-associated VAR_025798 commonName VAR_025798 VAR_025798 disease not phenotype-associated VAR_025799 commonName VAR_025799 VAR_025799 disease not phenotype-associated VAR_025800 commonName VAR_025800 VAR_025800 disease not phenotype-associated VAR_025801 commonName VAR_025801 VAR_025801 disease not phenotype-associated VAR_025802 commonName VAR_025802 VAR_025802 disease not phenotype-associated VAR_025803 commonName VAR_025803 VAR_025803 disease not phenotype-associated VAR_025804 commonName VAR_025804 VAR_025804 disease phenotype-associated VAR_025804 phenoCommon Glutaric aciduria type 2B (GA2B) [MIM:231680] VAR_025805 commonName VAR_025805 VAR_025805 disease not phenotype-associated VAR_025806 commonName VAR_025806 VAR_025806 disease not phenotype-associated VAR_025808 commonName VAR_025808 VAR_025808 disease not phenotype-associated VAR_025809 commonName VAR_025809 VAR_025809 disease not phenotype-associated VAR_025810 commonName VAR_025810 VAR_025810 disease not phenotype-associated VAR_025811 commonName VAR_025811 VAR_025811 disease not phenotype-associated VAR_025812 commonName VAR_025812 VAR_025812 disease not phenotype-associated VAR_025813 commonName VAR_025813 VAR_025813 disease not phenotype-associated VAR_025814 commonName VAR_025814 VAR_025814 disease not phenotype-associated VAR_025815 commonName VAR_025815 VAR_025815 disease not phenotype-associated VAR_025816 commonName VAR_025816 VAR_025816 disease not phenotype-associated VAR_025817 commonName VAR_025817 VAR_025817 disease not phenotype-associated VAR_025818 commonName VAR_025818 VAR_025818 disease not phenotype-associated VAR_025819 commonName VAR_025819 VAR_025819 disease not phenotype-associated VAR_025820 commonName VAR_025820 VAR_025820 disease not phenotype-associated VAR_025821 commonName VAR_025821 VAR_025821 disease not phenotype-associated VAR_025822 commonName VAR_025822 VAR_025822 disease not phenotype-associated VAR_025823 commonName VAR_025823 VAR_025823 disease not phenotype-associated VAR_025825 commonName VAR_025825 VAR_025825 disease not phenotype-associated VAR_025826 commonName VAR_025826 VAR_025826 disease not phenotype-associated VAR_025827 commonName VAR_025827 VAR_025827 disease not phenotype-associated VAR_025828 commonName VAR_025828 VAR_025828 disease not phenotype-associated VAR_025829 commonName VAR_025829 VAR_025829 disease not phenotype-associated VAR_025830 commonName VAR_025830 VAR_025830 disease not phenotype-associated VAR_025831 commonName VAR_025831 VAR_025831 disease not phenotype-associated VAR_025832 commonName VAR_025832 VAR_025832 disease not phenotype-associated VAR_025833 commonName VAR_025833 VAR_025833 disease not phenotype-associated VAR_025834 commonName VAR_025834 VAR_025834 disease not phenotype-associated VAR_025835 commonName VAR_025835 VAR_025835 disease not phenotype-associated VAR_025836 commonName VAR_025836 VAR_025836 disease not phenotype-associated VAR_025837 commonName VAR_025837 VAR_025837 disease not phenotype-associated VAR_025838 commonName VAR_025838 VAR_025838 disease not phenotype-associated VAR_025839 commonName VAR_025839 VAR_025839 disease not phenotype-associated VAR_025840 commonName VAR_025840 VAR_025840 disease not phenotype-associated VAR_025847 commonName VAR_025847 VAR_025847 disease not phenotype-associated VAR_025848 commonName VAR_025848 VAR_025848 disease not phenotype-associated VAR_025849 commonName VAR_025849 VAR_025849 disease phenotype-associated VAR_025849 phenoCommon Peeling skin syndrome type A (APSS) [MIM:609796] VAR_025850 commonName VAR_025850 VAR_025850 disease phenotype-associated VAR_025850 phenoCommon Spondylocostal dysostosis type 3 (SCDO3) [MIM:609813] VAR_025851 commonName VAR_025851 VAR_025851 disease phenotype-associated VAR_025851 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] VAR_025852 commonName VAR_025852 VAR_025852 disease phenotype-associated VAR_025852 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] VAR_025853 commonName VAR_025853 VAR_025853 disease phenotype-associated VAR_025853 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] VAR_025854 commonName VAR_025854 VAR_025854 disease phenotype-associated VAR_025854 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] VAR_025855 commonName VAR_025855 VAR_025855 disease phenotype-associated VAR_025855 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] VAR_025856 commonName VAR_025856 VAR_025856 disease phenotype-associated VAR_025856 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] VAR_025857 commonName VAR_025857 VAR_025857 disease phenotype-associated VAR_025857 phenoCommon Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] VAR_025858 commonName VAR_025858 VAR_025858 disease not phenotype-associated VAR_025859 commonName VAR_025859 VAR_025859 disease not phenotype-associated VAR_025860 commonName VAR_025860 VAR_025860 disease not phenotype-associated VAR_025861 commonName VAR_025861 VAR_025861 disease not phenotype-associated VAR_025862 commonName VAR_025862 VAR_025862 disease not phenotype-associated VAR_025864 commonName VAR_025864 VAR_025864 disease phenotype-associated VAR_025864 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] VAR_025865 commonName VAR_025865 VAR_025865 disease phenotype-associated VAR_025865 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] VAR_025866 commonName VAR_025866 VAR_025866 disease phenotype-associated VAR_025866 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] VAR_025867 commonName VAR_025867 VAR_025867 disease phenotype-associated VAR_025867 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] VAR_025868 commonName VAR_025868 VAR_025868 disease phenotype-associated VAR_025868 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] VAR_025869 commonName VAR_025869 VAR_025869 disease phenotype-associated VAR_025869 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] VAR_025870 commonName VAR_025870 VAR_025870 disease phenotype-associated VAR_025870 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] VAR_025871 commonName VAR_025871 VAR_025871 disease phenotype-associated VAR_025871 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] VAR_025872 commonName VAR_025872 VAR_025872 disease phenotype-associated VAR_025872 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] VAR_025873 commonName VAR_025873 VAR_025873 disease phenotype-associated VAR_025873 phenoCommon Complement factor H deficiency (CFHD) [MIM:609814] VAR_025874 commonName VAR_025874 VAR_025874 disease phenotype-associated VAR_025874 phenoCommon Complement factor H deficiency (CFHD) [MIM:609814] VAR_025875 commonName VAR_025875 VAR_025875 disease phenotype-associated VAR_025875 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] VAR_025876 commonName VAR_025876 VAR_025876 disease phenotype-associated VAR_025876 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] VAR_025877 commonName VAR_025877 VAR_025877 disease phenotype-associated VAR_025877 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] VAR_025878 commonName VAR_025878 VAR_025878 disease phenotype-associated VAR_025878 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] VAR_025879 commonName VAR_025879 VAR_025879 disease phenotype-associated VAR_025879 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] VAR_025880 commonName VAR_025880 VAR_025880 disease phenotype-associated VAR_025880 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] VAR_025881 commonName VAR_025881 VAR_025881 disease phenotype-associated VAR_025881 phenoCommon Complement factor H deficiency (CFHD) [MIM:609814] VAR_025882 commonName VAR_025882 VAR_025882 disease phenotype-associated VAR_025882 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] VAR_025883 commonName VAR_025883 VAR_025883 disease phenotype-associated VAR_025883 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] VAR_025884 commonName VAR_025884 VAR_025884 disease phenotype-associated VAR_025884 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] VAR_025885 commonName VAR_025885 VAR_025885 disease phenotype-associated VAR_025885 phenoCommon Age-related macular degeneration type 4 (ARMD4) [MIM:610698] VAR_025885 phenoCommon Complement factor H deficiency (CFHD) [MIM:609814] VAR_025886 commonName VAR_025886 VAR_025886 disease phenotype-associated VAR_025886 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] VAR_025887 commonName VAR_025887 VAR_025887 disease phenotype-associated VAR_025887 phenoCommon Complement factor H deficiency (CFHD) [MIM:609814] VAR_025888 commonName VAR_025888 VAR_025888 disease phenotype-associated VAR_025888 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] VAR_025889 commonName VAR_025889 VAR_025889 disease not phenotype-associated VAR_025890 commonName VAR_025890 VAR_025890 disease phenotype-associated VAR_025890 phenoCommon D-2-hydroxyglutaric aciduria type 1 (D2HGA1) [MIM:600721] VAR_025891 commonName VAR_025891 VAR_025891 disease phenotype-associated VAR_025891 phenoCommon D-2-hydroxyglutaric aciduria type 1 (D2HGA1) [MIM:600721] VAR_025895 commonName VAR_025895 VAR_025895 disease phenotype-associated VAR_025895 phenoCommon Rhizomelic chondrodysplasia punctata type 3 (RCDP3) [MIM:600121] VAR_025896 commonName VAR_025896 VAR_025896 disease phenotype-associated VAR_025896 phenoCommon Rhizomelic chondrodysplasia punctata type 3 (RCDP3) [MIM:600121] VAR_025897 commonName VAR_025897 VAR_025897 disease phenotype-associated VAR_025897 phenoCommon Rhizomelic chondrodysplasia punctata type 2 (RCDP2) [MIM:222765] VAR_025898 commonName VAR_025898 VAR_025898 disease not phenotype-associated VAR_025899 commonName VAR_025899 VAR_025899 disease not phenotype-associated VAR_025900 commonName VAR_025900 VAR_025900 disease not phenotype-associated VAR_025901 commonName VAR_025901 VAR_025901 disease phenotype-associated VAR_025901 phenoCommon Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) [MIM:300539] VAR_025902 commonName VAR_025902 VAR_025902 disease phenotype-associated VAR_025902 phenoCommon Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) [MIM:300539] VAR_025903 commonName VAR_025903 VAR_025903 disease phenotype-associated VAR_025903 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025904 commonName VAR_025904 VAR_025904 disease phenotype-associated VAR_025904 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025905 commonName VAR_025905 VAR_025905 disease phenotype-associated VAR_025905 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025906 commonName VAR_025906 VAR_025906 disease phenotype-associated VAR_025906 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025907 commonName VAR_025907 VAR_025907 disease phenotype-associated VAR_025907 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025908 commonName VAR_025908 VAR_025908 disease phenotype-associated VAR_025908 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025909 commonName VAR_025909 VAR_025909 disease phenotype-associated VAR_025909 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025910 commonName VAR_025910 VAR_025910 disease phenotype-associated VAR_025910 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025911 commonName VAR_025911 VAR_025911 disease phenotype-associated VAR_025911 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025912 commonName VAR_025912 VAR_025912 disease phenotype-associated VAR_025912 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025913 commonName VAR_025913 VAR_025913 disease phenotype-associated VAR_025913 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025914 commonName VAR_025914 VAR_025914 disease phenotype-associated VAR_025914 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025915 commonName VAR_025915 VAR_025915 disease phenotype-associated VAR_025915 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025916 commonName VAR_025916 VAR_025916 disease phenotype-associated VAR_025916 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025917 commonName VAR_025917 VAR_025917 disease phenotype-associated VAR_025917 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025918 commonName VAR_025918 VAR_025918 disease phenotype-associated VAR_025918 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025919 commonName VAR_025919 VAR_025919 disease phenotype-associated VAR_025919 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025920 commonName VAR_025920 VAR_025920 disease phenotype-associated VAR_025920 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025921 commonName VAR_025921 VAR_025921 disease phenotype-associated VAR_025921 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025922 commonName VAR_025922 VAR_025922 disease phenotype-associated VAR_025922 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025923 commonName VAR_025923 VAR_025923 disease phenotype-associated VAR_025923 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025924 commonName VAR_025924 VAR_025924 disease phenotype-associated VAR_025924 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025926 commonName VAR_025926 VAR_025926 disease phenotype-associated VAR_025926 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025927 commonName VAR_025927 VAR_025927 disease phenotype-associated VAR_025927 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025928 commonName VAR_025928 VAR_025928 disease phenotype-associated VAR_025928 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025929 commonName VAR_025929 VAR_025929 disease phenotype-associated VAR_025929 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025930 commonName VAR_025930 VAR_025930 disease phenotype-associated VAR_025930 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025932 commonName VAR_025932 VAR_025932 disease phenotype-associated VAR_025932 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025933 commonName VAR_025933 VAR_025933 disease phenotype-associated VAR_025933 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025934 commonName VAR_025934 VAR_025934 disease phenotype-associated VAR_025934 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025935 commonName VAR_025935 VAR_025935 disease phenotype-associated VAR_025935 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025936 commonName VAR_025936 VAR_025936 disease phenotype-associated VAR_025936 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025937 commonName VAR_025937 VAR_025937 disease phenotype-associated VAR_025937 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025938 commonName VAR_025938 VAR_025938 disease phenotype-associated VAR_025938 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025939 commonName VAR_025939 VAR_025939 disease phenotype-associated VAR_025939 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025940 commonName VAR_025940 VAR_025940 disease phenotype-associated VAR_025940 phenoCommon Hypophosphatasia (HOPS) [MIM:146300] VAR_025941 commonName VAR_025941 VAR_025941 disease not phenotype-associated VAR_025942 commonName VAR_025942 VAR_025942 disease not phenotype-associated VAR_025943 commonName VAR_025943 VAR_025943 disease not phenotype-associated VAR_025944 commonName VAR_025944 VAR_025944 disease not phenotype-associated VAR_025945 commonName VAR_025945 VAR_025945 disease not phenotype-associated VAR_025946 commonName VAR_025946 VAR_025946 disease not phenotype-associated VAR_025947 commonName VAR_025947 VAR_025947 disease not phenotype-associated VAR_025948 commonName VAR_025948 VAR_025948 disease not phenotype-associated VAR_025950 commonName VAR_025950 VAR_025950 disease phenotype-associated VAR_025950 phenoCommon Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000] VAR_025952 commonName VAR_025952 VAR_025952 disease phenotype-associated VAR_025952 phenoCommon Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000] VAR_025953 commonName VAR_025953 VAR_025953 disease phenotype-associated VAR_025953 phenoCommon Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000] VAR_025954 commonName VAR_025954 VAR_025955 commonName VAR_025955 VAR_025956 commonName VAR_025956 VAR_025956 disease phenotype-associated VAR_025956 phenoCommon Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000] VAR_025957 commonName VAR_025957 VAR_025957 disease phenotype-associated VAR_025957 phenoCommon Medullary cystic kidney disease type 2 (MCKD2) [MIM:603860] VAR_025958 commonName VAR_025958 VAR_025958 disease phenotype-associated VAR_025958 phenoCommon Medullary cystic kidney disease type 2 (MCKD2) [MIM:603860] VAR_025959 commonName VAR_025959 VAR_025959 disease phenotype-associated VAR_025959 phenoCommon Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000] VAR_025960 commonName VAR_025960 VAR_025960 disease phenotype-associated VAR_025960 phenoCommon Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000] VAR_025961 commonName VAR_025961 VAR_025961 disease phenotype-associated VAR_025961 phenoCommon Glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI) [MIM:609886] VAR_025962 commonName VAR_025962 VAR_025963 commonName VAR_025963 VAR_025964 commonName VAR_025964 VAR_025965 commonName VAR_025965 VAR_025966 commonName VAR_025966 VAR_025966 disease phenotype-associated VAR_025966 phenoCommon Primary open angle glaucoma type 1G (GLC1G) [MIM:609887] VAR_025967 commonName VAR_025967 VAR_025967 disease phenotype-associated VAR_025967 phenoCommon Primary open angle glaucoma type 1G (GLC1G) [MIM:609887] VAR_025968 commonName VAR_025968 VAR_025968 disease phenotype-associated VAR_025968 phenoCommon Primary open angle glaucoma type 1G (GLC1G) [MIM:609887] VAR_025969 commonName VAR_025969 VAR_025969 disease phenotype-associated VAR_025969 phenoCommon Primary open angle glaucoma type 1G (GLC1G) [MIM:609887] VAR_025970 commonName VAR_025970 VAR_025970 disease not phenotype-associated VAR_025971 commonName VAR_025971 VAR_025971 disease phenotype-associated VAR_025971 phenoCommon Omenn syndrome (OS) [MIM:603554] VAR_025972 commonName VAR_025972 VAR_025972 disease phenotype-associated VAR_025972 phenoCommon Omenn syndrome (OS) [MIM:603554] VAR_025973 commonName VAR_025973 VAR_025973 disease phenotype-associated VAR_025973 phenoCommon Omenn syndrome (OS) [MIM:603554] VAR_025974 commonName VAR_025974 VAR_025974 disease not phenotype-associated VAR_025975 commonName VAR_025975 VAR_025975 disease phenotype-associated VAR_025975 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457] VAR_025976 commonName VAR_025976 VAR_025976 disease phenotype-associated VAR_025976 phenoCommon Omenn syndrome (OS) [MIM:603554] VAR_025977 commonName VAR_025977 VAR_025977 disease not phenotype-associated VAR_025978 commonName VAR_025978 VAR_025978 disease not phenotype-associated VAR_025979 commonName VAR_025979 VAR_025979 disease phenotype-associated VAR_025979 phenoCommon Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650] VAR_025980 commonName VAR_025980 VAR_025980 disease not phenotype-associated VAR_025981 commonName VAR_025981 VAR_025981 disease phenotype-associated VAR_025981 phenoCommon Omenn syndrome (OS) [MIM:603554] VAR_025981 phenoCommon Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457] VAR_025982 commonName VAR_025982 VAR_025982 disease phenotype-associated VAR_025982 phenoCommon Omenn syndrome (OS) [MIM:603554] VAR_025983 commonName VAR_025983 VAR_025983 disease phenotype-associated VAR_025983 phenoCommon Omenn syndrome (OS) [MIM:603554] VAR_025984 commonName VAR_025984 VAR_025984 disease not phenotype-associated VAR_025985 commonName VAR_025985 VAR_025985 disease phenotype-associated VAR_025985 phenoCommon Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion severe cytomegalovirus infection and autoimmunity (T-CMVA) [MIM:609889] VAR_025986 commonName VAR_025986 VAR_025986 disease not phenotype-associated VAR_025987 commonName VAR_025987 VAR_025987 disease phenotype-associated VAR_025987 phenoCommon Omenn syndrome (OS) [MIM:603554] VAR_025988 commonName VAR_025988 VAR_025988 disease phenotype-associated VAR_025988 phenoCommon Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion severe cytomegalovirus infection and autoimmunity (T-CMVA) [MIM:609889] VAR_025989 commonName VAR_025989 VAR_025989 disease phenotype-associated VAR_025989 phenoCommon Cardiomyopathy dilated type 1P (CMD1P) [MIM:609909] VAR_025991 commonName VAR_025991 VAR_025991 disease not phenotype-associated VAR_025992 commonName VAR_025992 VAR_025992 disease phenotype-associated VAR_025992 phenoCommon Biotin-responsive basal ganglia disease (BBGD) [MIM:607483] VAR_025993 commonName VAR_025993 VAR_025993 disease phenotype-associated VAR_025993 phenoCommon Biotin-responsive basal ganglia disease (BBGD) [MIM:607483] VAR_025994 commonName VAR_025994 VAR_025994 disease not phenotype-associated VAR_025995 commonName VAR_025995 VAR_025995 disease not phenotype-associated VAR_025996 commonName VAR_025996 VAR_025996 disease not phenotype-associated VAR_025997 commonName VAR_025997 VAR_025997 disease not phenotype-associated VAR_025998 commonName VAR_025998 VAR_025998 disease not phenotype-associated VAR_025999 commonName VAR_025999 VAR_025999 disease not phenotype-associated VAR_026000 commonName VAR_026000 VAR_026000 disease not phenotype-associated VAR_026001 commonName VAR_026001 VAR_026001 disease not phenotype-associated VAR_026002 commonName VAR_026002 VAR_026002 disease not phenotype-associated VAR_026003 commonName VAR_026003 VAR_026003 disease not phenotype-associated VAR_026004 commonName VAR_026004 VAR_026004 disease not phenotype-associated VAR_026005 commonName VAR_026005 VAR_026005 disease not phenotype-associated VAR_026006 commonName VAR_026006 VAR_026006 disease not phenotype-associated VAR_026007 commonName VAR_026007 VAR_026007 disease not phenotype-associated VAR_026008 commonName VAR_026008 VAR_026008 disease not phenotype-associated VAR_026009 commonName VAR_026009 VAR_026009 disease not phenotype-associated VAR_026010 commonName VAR_026010 VAR_026010 disease not phenotype-associated VAR_026011 commonName VAR_026011 VAR_026011 disease not phenotype-associated VAR_026012 commonName VAR_026012 VAR_026012 disease not phenotype-associated VAR_026013 commonName VAR_026013 VAR_026013 disease not phenotype-associated VAR_026014 commonName VAR_026014 VAR_026014 disease not phenotype-associated VAR_026015 commonName VAR_026015 VAR_026016 commonName VAR_026016 VAR_026017 commonName VAR_026017 VAR_026018 commonName VAR_026018 VAR_026019 commonName VAR_026019 VAR_026020 commonName VAR_026020 VAR_026020 disease not phenotype-associated VAR_026021 commonName VAR_026021 VAR_026021 disease not phenotype-associated VAR_026022 commonName VAR_026022 VAR_026022 disease phenotype-associated VAR_026022 phenoCommon Lissencephaly X-linked type 1 (LISX1) [MIM:300067] VAR_026023 commonName VAR_026023 VAR_026023 disease phenotype-associated VAR_026023 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067] VAR_026024 commonName VAR_026024 VAR_026024 disease phenotype-associated VAR_026024 phenoCommon Lissencephaly X-linked type 1 (LISX1) [MIM:300067] VAR_026025 commonName VAR_026025 VAR_026025 disease phenotype-associated VAR_026025 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067] VAR_026026 commonName VAR_026026 VAR_026026 disease phenotype-associated VAR_026026 phenoCommon Lissencephaly X-linked type 1 (LISX1) [MIM:300067] VAR_026027 commonName VAR_026027 VAR_026027 disease phenotype-associated VAR_026027 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067] VAR_026028 commonName VAR_026028 VAR_026028 disease phenotype-associated VAR_026028 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067] VAR_026029 commonName VAR_026029 VAR_026029 disease phenotype-associated VAR_026029 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067] VAR_026030 commonName VAR_026030 VAR_026030 disease phenotype-associated VAR_026030 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067] VAR_026031 commonName VAR_026031 VAR_026031 disease phenotype-associated VAR_026031 phenoCommon Lissencephaly X-linked type 1 (LISX1) [MIM:300067] VAR_026032 commonName VAR_026032 VAR_026033 commonName VAR_026033 VAR_026033 disease phenotype-associated VAR_026033 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067] VAR_026034 commonName VAR_026034 VAR_026034 disease phenotype-associated VAR_026034 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067] VAR_026035 commonName VAR_026035 VAR_026035 disease phenotype-associated VAR_026035 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067] VAR_026036 commonName VAR_026036 VAR_026036 disease phenotype-associated VAR_026036 phenoCommon Lissencephaly X-linked type 1 (LISX1) [MIM:300067] VAR_026037 commonName VAR_026037 VAR_026037 disease phenotype-associated VAR_026037 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067] VAR_026038 commonName VAR_026038 VAR_026038 disease phenotype-associated VAR_026038 phenoCommon Subcortical band heterotopia X-linked (SBHX) [MIM:300067] VAR_026039 commonName VAR_026039 VAR_026039 disease not phenotype-associated VAR_026042 commonName VAR_026042 VAR_026042 disease not phenotype-associated VAR_026043 commonName VAR_026043 VAR_026043 disease not phenotype-associated VAR_026044 commonName VAR_026044 VAR_026044 disease not phenotype-associated VAR_026045 commonName VAR_026045 VAR_026045 disease phenotype-associated VAR_026045 phenoCommon Familial adenomatous polyposis type 2 (FAP2) [MIM:608456] VAR_026046 commonName VAR_026046 VAR_026046 disease phenotype-associated VAR_026046 phenoCommon Familial adenomatous polyposis type 2 (FAP2) [MIM:608456] VAR_026047 commonName VAR_026047 VAR_026047 disease phenotype-associated VAR_026047 phenoCommon Familial adenomatous polyposis type 2 (FAP2) [MIM:608456] VAR_026048 commonName VAR_026048 VAR_026048 disease phenotype-associated VAR_026048 phenoCommon Familial adenomatous polyposis type 2 (FAP2) [MIM:608456] VAR_026049 commonName VAR_026049 VAR_026049 disease phenotype-associated VAR_026049 phenoCommon Gastric cancer (GASC) [MIM:613659] VAR_026050 commonName VAR_026050 VAR_026050 disease phenotype-associated VAR_026050 phenoCommon Gastric cancer (GASC) [MIM:613659] VAR_026052 commonName VAR_026052 VAR_026052 disease phenotype-associated VAR_026052 phenoCommon Colorectal cancer (CRC) [MIM:114500] VAR_026053 commonName VAR_026053 VAR_026053 disease not phenotype-associated VAR_026054 commonName VAR_026054 VAR_026054 disease not phenotype-associated VAR_026055 commonName VAR_026055 VAR_026055 disease not phenotype-associated VAR_026056 commonName VAR_026056 VAR_026056 disease not phenotype-associated VAR_026057 commonName VAR_026057 VAR_026057 disease not phenotype-associated VAR_026058 commonName VAR_026058 VAR_026058 disease phenotype-associated VAR_026058 phenoCommon Retinitis pigmentosa type 2 (RP2) [MIM:312600] VAR_026084 commonName VAR_026084 VAR_026085 commonName VAR_026085 VAR_026086 commonName VAR_026086 VAR_026087 commonName VAR_026087 VAR_026087 disease not phenotype-associated VAR_026088 commonName VAR_026088 VAR_026089 commonName VAR_026089 VAR_026090 commonName VAR_026090 VAR_026093 commonName VAR_026093 VAR_026095 commonName VAR_026095 VAR_026097 commonName VAR_026097 VAR_026098 commonName VAR_026098 VAR_026099 commonName VAR_026099 VAR_026100 commonName VAR_026100 VAR_026101 commonName VAR_026101 VAR_026102 commonName VAR_026102 VAR_026103 commonName VAR_026103 VAR_026104 commonName VAR_026104 VAR_026104 disease phenotype-associated VAR_026104 phenoCommon Aminoacylase-1 deficiency (ACY1D) [MIM:609924] VAR_026105 commonName VAR_026105 VAR_026105 disease phenotype-associated VAR_026105 phenoCommon Aminoacylase-1 deficiency (ACY1D) [MIM:609924] VAR_026106 commonName VAR_026106 VAR_026106 disease phenotype-associated VAR_026106 phenoCommon Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] VAR_026107 commonName VAR_026107 VAR_026107 disease phenotype-associated VAR_026107 phenoCommon Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] VAR_026108 commonName VAR_026108 VAR_026108 disease phenotype-associated VAR_026108 phenoCommon Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] VAR_026109 commonName VAR_026109 VAR_026109 disease phenotype-associated VAR_026109 phenoCommon Noonan syndrome type 3 (NS3) [MIM:609942] VAR_026110 commonName VAR_026110 VAR_026110 disease phenotype-associated VAR_026110 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] VAR_026111 commonName VAR_026111 VAR_026111 disease phenotype-associated VAR_026111 phenoCommon Noonan syndrome type 3 (NS3) [MIM:609942] VAR_026112 commonName VAR_026112 VAR_026112 disease phenotype-associated VAR_026112 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] VAR_026113 commonName VAR_026113 VAR_026113 disease phenotype-associated VAR_026113 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] VAR_026114 commonName VAR_026114 VAR_026114 disease phenotype-associated VAR_026114 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] VAR_026115 commonName VAR_026115 VAR_026115 disease phenotype-associated VAR_026115 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] VAR_026116 commonName VAR_026116 VAR_026116 disease phenotype-associated VAR_026116 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] VAR_026117 commonName VAR_026117 VAR_026117 disease phenotype-associated VAR_026117 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] VAR_026118 commonName VAR_026118 VAR_026118 disease phenotype-associated VAR_026118 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] VAR_026119 commonName VAR_026119 VAR_026119 disease phenotype-associated VAR_026119 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] VAR_026120 commonName VAR_026120 VAR_026120 disease not phenotype-associated VAR_026121 commonName VAR_026121 VAR_026121 disease not phenotype-associated VAR_026125 commonName VAR_026125 VAR_026125 disease not phenotype-associated VAR_026126 commonName VAR_026126 VAR_026126 disease not phenotype-associated VAR_026129 commonName VAR_026129 VAR_026129 disease phenotype-associated VAR_026129 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_026130 commonName VAR_026130 VAR_026130 disease phenotype-associated VAR_026130 phenoCommon GM1-gangliosidosis type 2 (GM1G2) [MIM:230600] VAR_026131 commonName VAR_026131 VAR_026131 disease phenotype-associated VAR_026131 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_026132 commonName VAR_026132 VAR_026132 disease phenotype-associated VAR_026132 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_026133 commonName VAR_026133 VAR_026133 disease not phenotype-associated VAR_026134 commonName VAR_026134 VAR_026134 disease phenotype-associated VAR_026134 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] VAR_026135 commonName VAR_026135 VAR_026135 disease phenotype-associated VAR_026135 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] VAR_026136 commonName VAR_026136 VAR_026136 disease phenotype-associated VAR_026136 phenoCommon Gilbert syndrome (GILBS) [MIM:143500] VAR_026137 commonName VAR_026137 VAR_026137 disease phenotype-associated VAR_026137 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] VAR_026138 commonName VAR_026138 VAR_026138 disease phenotype-associated VAR_026138 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] VAR_026139 commonName VAR_026139 VAR_026139 disease phenotype-associated VAR_026139 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] VAR_026139 phenoCommon Gilbert syndrome (GILBS) [MIM:143500] VAR_026140 commonName VAR_026140 VAR_026140 disease phenotype-associated VAR_026140 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] VAR_026140 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] VAR_026141 commonName VAR_026141 VAR_026141 disease phenotype-associated VAR_026141 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] VAR_026142 commonName VAR_026142 VAR_026142 disease phenotype-associated VAR_026142 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] VAR_026143 commonName VAR_026143 VAR_026143 disease phenotype-associated VAR_026143 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] VAR_026144 commonName VAR_026144 VAR_026144 disease phenotype-associated VAR_026144 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] VAR_026144 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] VAR_026145 commonName VAR_026145 VAR_026145 disease phenotype-associated VAR_026145 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] VAR_026145 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] VAR_026146 commonName VAR_026146 VAR_026146 disease phenotype-associated VAR_026146 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] VAR_026147 commonName VAR_026147 VAR_026147 disease phenotype-associated VAR_026147 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] VAR_026148 commonName VAR_026148 VAR_026148 disease phenotype-associated VAR_026148 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] VAR_026149 commonName VAR_026149 VAR_026149 disease phenotype-associated VAR_026149 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] VAR_026149 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] VAR_026150 commonName VAR_026150 VAR_026150 disease phenotype-associated VAR_026150 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] VAR_026151 commonName VAR_026151 VAR_026151 disease not phenotype-associated VAR_026152 commonName VAR_026152 VAR_026152 disease not phenotype-associated VAR_026153 commonName VAR_026153 VAR_026154 commonName VAR_026154 VAR_026154 disease not phenotype-associated VAR_026155 commonName VAR_026155 VAR_026155 disease not phenotype-associated VAR_026156 commonName VAR_026156 VAR_026156 disease not phenotype-associated VAR_026157 commonName VAR_026157 VAR_026157 disease not phenotype-associated VAR_026158 commonName VAR_026158 VAR_026158 disease not phenotype-associated VAR_026159 commonName VAR_026159 VAR_026159 disease not phenotype-associated VAR_026160 commonName VAR_026160 VAR_026160 disease not phenotype-associated VAR_026161 commonName VAR_026161 VAR_026161 disease not phenotype-associated VAR_026162 commonName VAR_026162 VAR_026162 disease not phenotype-associated VAR_026164 commonName VAR_026164 VAR_026164 disease not phenotype-associated VAR_026165 commonName VAR_026165 VAR_026165 disease not phenotype-associated VAR_026166 comment Cancer VAR_026166 commonName VAR_026166 VAR_026167 comment Cancer VAR_026167 commonName VAR_026167 VAR_026168 comment Cancer VAR_026168 commonName VAR_026168 VAR_026169 comment Cancer VAR_026169 commonName VAR_026169 VAR_026170 commonName VAR_026170 VAR_026170 disease not phenotype-associated VAR_026171 comment Cancer VAR_026171 commonName VAR_026171 VAR_026172 comment Cancer VAR_026172 commonName VAR_026172 VAR_026173 commonName VAR_026173 VAR_026173 disease phenotype-associated VAR_026173 phenoCommon Keratosis seborrheic (KERSEB) [MIM:182000] VAR_026174 comment Cancer VAR_026174 commonName VAR_026174 VAR_026175 comment Cancer VAR_026175 commonName VAR_026175 VAR_026176 comment Cancer VAR_026176 commonName VAR_026176 VAR_026177 commonName VAR_026177 VAR_026177 disease phenotype-associated VAR_026177 phenoCommon Keratosis seborrheic (KERSEB) [MIM:182000] VAR_026178 commonName VAR_026178 VAR_026178 disease phenotype-associated VAR_026178 phenoCommon Keratosis seborrheic (KERSEB) [MIM:182000] VAR_026179 comment Cancer VAR_026179 commonName VAR_026179 VAR_026180 comment Cancer VAR_026180 commonName VAR_026180 VAR_026181 comment Cancer VAR_026181 commonName VAR_026181 VAR_026182 comment Cancer VAR_026182 commonName VAR_026182 VAR_026183 comment Cancer VAR_026183 commonName VAR_026183 VAR_026184 comment Cancer VAR_026184 commonName VAR_026184 VAR_026185 comment Cancer VAR_026185 commonName VAR_026185 VAR_026186 comment Cancer VAR_026186 commonName VAR_026186 VAR_026187 comment Cancer VAR_026187 commonName VAR_026187 VAR_026188 comment Cancer VAR_026188 commonName VAR_026188 VAR_026189 comment Cancer VAR_026189 commonName VAR_026189 VAR_026190 comment Cancer VAR_026190 commonName VAR_026190 VAR_026191 comment Cancer VAR_026191 commonName VAR_026191 VAR_026192 commonName VAR_026192 VAR_026192 disease phenotype-associated VAR_026192 phenoCommon Keratosis seborrheic (KERSEB) [MIM:182000] VAR_026193 comment Cancer VAR_026193 commonName VAR_026193 VAR_026194 comment Cancer VAR_026194 commonName VAR_026194 VAR_026195 comment Cancer VAR_026195 commonName VAR_026195 VAR_026196 comment Cancer VAR_026196 commonName VAR_026196 VAR_026197 comment Cancer VAR_026197 commonName VAR_026197 VAR_026198 commonName VAR_026198 VAR_026198 disease not phenotype-associated VAR_026199 commonName VAR_026199 VAR_026199 disease phenotype-associated VAR_026199 phenoCommon Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980] VAR_026200 commonName VAR_026200 VAR_026200 disease phenotype-associated VAR_026200 phenoCommon Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980] VAR_026201 commonName VAR_026201 VAR_026201 disease phenotype-associated VAR_026201 phenoCommon Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980] VAR_026202 commonName VAR_026202 VAR_026202 disease phenotype-associated VAR_026202 phenoCommon Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980] VAR_026203 commonName VAR_026203 VAR_026203 disease phenotype-associated VAR_026203 phenoCommon Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980] VAR_026204 commonName VAR_026204 VAR_026204 disease phenotype-associated VAR_026204 phenoCommon Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980] VAR_026205 commonName VAR_026205 VAR_026205 disease phenotype-associated VAR_026205 phenoCommon Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980] VAR_026206 commonName VAR_026206 VAR_026206 disease phenotype-associated VAR_026206 phenoCommon Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980] VAR_026207 commonName VAR_026207 VAR_026207 disease phenotype-associated VAR_026207 phenoCommon Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980] VAR_026208 commonName VAR_026208 VAR_026208 disease phenotype-associated VAR_026208 phenoCommon Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980] VAR_026209 commonName VAR_026209 VAR_026209 disease phenotype-associated VAR_026209 phenoCommon Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980] VAR_026210 commonName VAR_026210 VAR_026210 disease phenotype-associated VAR_026210 phenoCommon Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980] VAR_026211 commonName VAR_026211 VAR_026211 disease not phenotype-associated VAR_026212 commonName VAR_026212 VAR_026212 disease not phenotype-associated VAR_026213 commonName VAR_026213 VAR_026213 disease not phenotype-associated VAR_026214 commonName VAR_026214 VAR_026214 disease not phenotype-associated VAR_026215 commonName VAR_026215 VAR_026215 disease not phenotype-associated VAR_026216 commonName VAR_026216 VAR_026216 disease not phenotype-associated VAR_026217 commonName VAR_026217 VAR_026217 disease phenotype-associated VAR_026217 phenoCommon Mitochondrial DNA depletion syndrome type 6 (MTDPS6) [MIM:256810] VAR_026218 commonName VAR_026218 VAR_026218 disease phenotype-associated VAR_026218 phenoCommon Mitochondrial DNA depletion syndrome type 6 (MTDPS6) [MIM:256810] VAR_026219 commonName VAR_026219 VAR_026219 disease phenotype-associated VAR_026219 phenoCommon Mitochondrial DNA depletion syndrome type 6 (MTDPS6) [MIM:256810] VAR_026220 commonName VAR_026220 VAR_026220 disease not phenotype-associated VAR_026221 commonName VAR_026221 VAR_026221 disease not phenotype-associated VAR_026222 commonName VAR_026222 VAR_026222 disease not phenotype-associated VAR_026223 commonName VAR_026223 VAR_026223 disease not phenotype-associated VAR_026224 commonName VAR_026224 VAR_026224 disease not phenotype-associated VAR_026225 commonName VAR_026225 VAR_026225 disease not phenotype-associated VAR_026226 commonName VAR_026226 VAR_026226 disease phenotype-associated VAR_026226 phenoCommon Immune dysfunction with T-cell inactivation due to calcium entry defect type 1 (IDTICED1) [MIM:612782] VAR_026227 commonName VAR_026227 VAR_026227 disease not phenotype-associated VAR_026228 commonName VAR_026228 VAR_026229 commonName VAR_026229 VAR_026229 disease not phenotype-associated VAR_026230 commonName VAR_026230 VAR_026230 disease phenotype-associated VAR_026230 phenoCommon Danon disease (DAND) [MIM:300257] VAR_026231 commonName VAR_026231 VAR_026231 disease not phenotype-associated VAR_026232 commonName VAR_026232 VAR_026232 disease not phenotype-associated VAR_026233 commonName VAR_026233 VAR_026233 disease not phenotype-associated VAR_026234 commonName VAR_026234 VAR_026234 disease not phenotype-associated VAR_026235 commonName VAR_026235 VAR_026235 disease not phenotype-associated VAR_026236 commonName VAR_026236 VAR_026236 disease not phenotype-associated VAR_026237 commonName VAR_026237 VAR_026237 disease not phenotype-associated VAR_026238 commonName VAR_026238 VAR_026238 disease not phenotype-associated VAR_026239 commonName VAR_026239 VAR_026239 disease phenotype-associated VAR_026239 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] VAR_026240 commonName VAR_026240 VAR_026240 disease phenotype-associated VAR_026240 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] VAR_026241 commonName VAR_026241 VAR_026241 disease phenotype-associated VAR_026241 phenoCommon Microphthalmia isolated with cataract type 2 (MCOPCT2) [MIM:212550] VAR_026242 commonName VAR_026242 VAR_026242 disease phenotype-associated VAR_026242 phenoCommon Bilateral frontoparietal polymicrogyria (BFPP) [MIM:606854] VAR_026243 commonName VAR_026243 VAR_026243 disease phenotype-associated VAR_026243 phenoCommon Bilateral frontoparietal polymicrogyria (BFPP) [MIM:606854] VAR_026244 commonName VAR_026244 VAR_026244 disease phenotype-associated VAR_026244 phenoCommon Bilateral frontoparietal polymicrogyria (BFPP) [MIM:606854] VAR_026245 commonName VAR_026245 VAR_026245 disease phenotype-associated VAR_026245 phenoCommon Bilateral frontoparietal polymicrogyria (BFPP) [MIM:606854] VAR_026248 commonName VAR_026248 VAR_026249 commonName VAR_026249 VAR_026250 commonName VAR_026250 VAR_026251 commonName VAR_026251 VAR_026252 commonName VAR_026252 VAR_026253 commonName VAR_026253 VAR_026254 commonName VAR_026254 VAR_026254 disease phenotype-associated VAR_026254 phenoCommon Cowden disease (CD) [MIM:158350] VAR_026255 commonName VAR_026255 VAR_026255 disease phenotype-associated VAR_026255 phenoCommon Cowden disease (CD) [MIM:158350] VAR_026256 commonName VAR_026256 VAR_026256 disease phenotype-associated VAR_026256 phenoCommon Bannayan-Zonana syndrome (BZS) [MIM:153480] VAR_026257 commonName VAR_026257 VAR_026257 disease phenotype-associated VAR_026257 phenoCommon Bannayan-Zonana syndrome (BZS) [MIM:153480] VAR_026258 commonName VAR_026258 VAR_026259 comment Glioblastoma VAR_026259 commonName VAR_026259 VAR_026260 commonName VAR_026260 VAR_026260 disease phenotype-associated VAR_026260 phenoCommon Endometrial cancer (ENDMC) [MIM:608089] VAR_026261 commonName VAR_026261 VAR_026262 commonName VAR_026262 VAR_026263 commonName VAR_026263 VAR_026263 disease phenotype-associated VAR_026263 phenoCommon Cowden disease (CD) [MIM:158350] VAR_026264 comment Glioblastoma VAR_026264 commonName VAR_026264 VAR_026265 comment Breast cancer VAR_026265 commonName VAR_026265 VAR_026266 commonName VAR_026266 VAR_026267 commonName VAR_026267 VAR_026268 commonName VAR_026268 VAR_026269 commonName VAR_026269 VAR_026270 commonName VAR_026270 VAR_026271 commonName VAR_026271 VAR_026272 commonName VAR_026272 VAR_026273 commonName VAR_026273 VAR_026275 commonName VAR_026275 VAR_026275 disease phenotype-associated VAR_026275 phenoCommon Cowden disease (CD) [MIM:158350] VAR_026276 commonName VAR_026276 VAR_026276 disease phenotype-associated VAR_026276 phenoCommon Cowden disease (CD) [MIM:158350] VAR_026277 commonName VAR_026277 VAR_026277 disease phenotype-associated VAR_026277 phenoCommon Cowden disease (CD) [MIM:158350] VAR_026278 comment Glioblastoma VAR_026278 commonName VAR_026278 VAR_026279 commonName VAR_026279 VAR_026280 commonName VAR_026280 VAR_026281 commonName VAR_026281 VAR_026282 commonName VAR_026282 VAR_026282 disease not phenotype-associated VAR_026283 commonName VAR_026283 VAR_026283 disease not phenotype-associated VAR_026284 commonName VAR_026284 VAR_026284 disease not phenotype-associated VAR_026285 commonName VAR_026285 VAR_026285 disease not phenotype-associated VAR_026286 commonName VAR_026286 VAR_026286 disease not phenotype-associated VAR_026288 commonName VAR_026288 VAR_026288 disease not phenotype-associated VAR_026289 commonName VAR_026289 VAR_026289 disease not phenotype-associated VAR_026290 commonName VAR_026290 VAR_026290 disease not phenotype-associated VAR_026291 commonName VAR_026291 VAR_026291 disease not phenotype-associated VAR_026292 commonName VAR_026292 VAR_026292 disease not phenotype-associated VAR_026293 commonName VAR_026293 VAR_026293 disease not phenotype-associated VAR_026295 commonName VAR_026295 VAR_026295 disease not phenotype-associated VAR_026297 commonName VAR_026297 VAR_026297 disease phenotype-associated VAR_026297 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_026298 commonName VAR_026298 VAR_026298 disease phenotype-associated VAR_026298 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_026299 commonName VAR_026299 VAR_026299 disease phenotype-associated VAR_026299 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_026300 commonName VAR_026300 VAR_026300 disease phenotype-associated VAR_026300 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_026301 commonName VAR_026301 VAR_026301 disease phenotype-associated VAR_026301 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_026302 commonName VAR_026302 VAR_026302 disease phenotype-associated VAR_026302 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_026303 commonName VAR_026303 VAR_026304 commonName VAR_026304 VAR_026305 commonName VAR_026305 VAR_026306 commonName VAR_026306 VAR_026306 disease phenotype-associated VAR_026306 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_026307 commonName VAR_026307 VAR_026307 disease phenotype-associated VAR_026307 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_026308 commonName VAR_026308 VAR_026308 disease phenotype-associated VAR_026308 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_026309 commonName VAR_026309 VAR_026309 disease phenotype-associated VAR_026309 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_026310 commonName VAR_026310 VAR_026310 disease phenotype-associated VAR_026310 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_026311 commonName VAR_026311 VAR_026311 disease phenotype-associated VAR_026311 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_026312 commonName VAR_026312 VAR_026312 disease phenotype-associated VAR_026312 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_026313 commonName VAR_026313 VAR_026313 disease phenotype-associated VAR_026313 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_026314 commonName VAR_026314 VAR_026314 disease phenotype-associated VAR_026314 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_026315 commonName VAR_026315 VAR_026315 disease phenotype-associated VAR_026315 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_026316 commonName VAR_026316 VAR_026317 commonName VAR_026317 VAR_026317 disease phenotype-associated VAR_026317 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_026318 commonName VAR_026318 VAR_026319 commonName VAR_026319 VAR_026319 disease phenotype-associated VAR_026319 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_026320 commonName VAR_026320 VAR_026320 disease phenotype-associated VAR_026320 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_026321 commonName VAR_026321 VAR_026321 disease phenotype-associated VAR_026321 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_026322 commonName VAR_026322 VAR_026322 disease phenotype-associated VAR_026322 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_026323 commonName VAR_026323 VAR_026323 disease phenotype-associated VAR_026323 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_026324 commonName VAR_026324 VAR_026325 commonName VAR_026325 VAR_026325 disease phenotype-associated VAR_026325 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_026326 commonName VAR_026326 VAR_026326 disease phenotype-associated VAR_026326 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_026327 commonName VAR_026327 VAR_026327 disease not phenotype-associated VAR_026328 commonName VAR_026328 VAR_026328 disease not phenotype-associated VAR_026329 commonName VAR_026329 VAR_026329 disease phenotype-associated VAR_026329 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_026330 commonName VAR_026330 VAR_026330 disease phenotype-associated VAR_026330 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_026331 commonName VAR_026331 VAR_026332 commonName VAR_026332 VAR_026332 disease phenotype-associated VAR_026332 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_026333 commonName VAR_026333 VAR_026333 disease phenotype-associated VAR_026333 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_026334 commonName VAR_026334 VAR_026335 commonName VAR_026335 VAR_026335 disease phenotype-associated VAR_026335 phenoCommon Alagille syndrome type 1 (ALGS1) [MIM:118450] VAR_026337 commonName VAR_026337 VAR_026338 commonName VAR_026338 VAR_026338 disease not phenotype-associated VAR_026339 commonName VAR_026339 VAR_026339 disease not phenotype-associated VAR_026340 commonName VAR_026340 VAR_026340 disease not phenotype-associated VAR_026341 commonName VAR_026341 VAR_026341 disease phenotype-associated VAR_026341 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026342 commonName VAR_026342 VAR_026342 disease not phenotype-associated VAR_026343 commonName VAR_026343 VAR_026343 disease phenotype-associated VAR_026343 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026344 commonName VAR_026344 VAR_026344 disease phenotype-associated VAR_026344 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026344 phenoCommon Progressive familial heart block type 1A (PFHB1A) [MIM:113900] VAR_026345 commonName VAR_026345 VAR_026345 disease phenotype-associated VAR_026345 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026346 commonName VAR_026346 VAR_026346 disease phenotype-associated VAR_026346 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026347 commonName VAR_026347 VAR_026347 disease phenotype-associated VAR_026347 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026348 commonName VAR_026348 VAR_026348 disease phenotype-associated VAR_026348 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026349 commonName VAR_026349 VAR_026349 disease phenotype-associated VAR_026349 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026350 commonName VAR_026350 VAR_026350 disease phenotype-associated VAR_026350 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026351 commonName VAR_026351 VAR_026351 disease phenotype-associated VAR_026351 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026352 commonName VAR_026352 VAR_026352 disease phenotype-associated VAR_026352 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026353 commonName VAR_026353 VAR_026353 disease phenotype-associated VAR_026353 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026354 commonName VAR_026354 VAR_026354 disease phenotype-associated VAR_026354 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026356 commonName VAR_026356 VAR_026356 disease not phenotype-associated VAR_026357 commonName VAR_026357 VAR_026357 disease phenotype-associated VAR_026357 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026358 commonName VAR_026358 VAR_026358 disease phenotype-associated VAR_026358 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_026359 commonName VAR_026359 VAR_026359 disease phenotype-associated VAR_026359 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026360 commonName VAR_026360 VAR_026360 disease phenotype-associated VAR_026360 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026361 commonName VAR_026361 VAR_026361 disease phenotype-associated VAR_026361 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026361 phenoCommon Progressive familial heart block type 1A (PFHB1A) [MIM:113900] VAR_026362 commonName VAR_026362 VAR_026362 disease phenotype-associated VAR_026362 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026363 commonName VAR_026363 VAR_026363 disease phenotype-associated VAR_026363 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026364 commonName VAR_026364 VAR_026364 disease phenotype-associated VAR_026364 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026365 commonName VAR_026365 VAR_026365 disease phenotype-associated VAR_026365 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026366 commonName VAR_026366 VAR_026366 disease phenotype-associated VAR_026366 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026367 commonName VAR_026367 VAR_026367 disease not phenotype-associated VAR_026368 commonName VAR_026368 VAR_026368 disease phenotype-associated VAR_026368 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026368 phenoCommon Familial atrial fibrillation type 10 (ATFB10) [MIM:614022] VAR_026369 commonName VAR_026369 VAR_026369 disease phenotype-associated VAR_026369 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026369 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_026370 commonName VAR_026370 VAR_026370 disease phenotype-associated VAR_026370 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026371 commonName VAR_026371 VAR_026371 disease phenotype-associated VAR_026371 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026372 commonName VAR_026372 VAR_026372 disease phenotype-associated VAR_026372 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_026373 commonName VAR_026373 VAR_026373 disease phenotype-associated VAR_026373 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026373 phenoCommon Cardiomyopathy dilated type 1E (CMD1E) [MIM:601154] VAR_026373 phenoCommon Familial atrial standstill (FAS) [MIM:108770] VAR_026373 phenoCommon Progressive familial heart block type 1A (PFHB1A) [MIM:113900] VAR_026374 commonName VAR_026374 VAR_026374 disease phenotype-associated VAR_026374 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026375 commonName VAR_026375 VAR_026375 disease phenotype-associated VAR_026375 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026376 commonName VAR_026376 VAR_026376 disease phenotype-associated VAR_026376 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026377 commonName VAR_026377 VAR_026377 disease phenotype-associated VAR_026377 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026378 commonName VAR_026378 VAR_026378 disease phenotype-associated VAR_026378 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026379 commonName VAR_026379 VAR_026379 disease phenotype-associated VAR_026379 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026382 commonName VAR_026382 VAR_026382 disease phenotype-associated VAR_026382 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026383 commonName VAR_026383 VAR_026383 disease phenotype-associated VAR_026383 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026384 commonName VAR_026384 VAR_026384 disease phenotype-associated VAR_026384 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026385 commonName VAR_026385 VAR_026385 disease phenotype-associated VAR_026385 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026386 commonName VAR_026386 VAR_026386 disease phenotype-associated VAR_026386 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_026386 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_026388 commonName VAR_026388 VAR_026388 disease not phenotype-associated VAR_026389 commonName VAR_026389 VAR_026389 disease phenotype-associated VAR_026389 phenoCommon Bardet-Biedl syndrome type 9 (BBS9) [MIM:209900] VAR_026390 commonName VAR_026390 VAR_026390 disease not phenotype-associated VAR_026391 commonName VAR_026391 VAR_026391 disease phenotype-associated VAR_026391 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] VAR_026392 commonName VAR_026392 VAR_026392 disease phenotype-associated VAR_026392 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] VAR_026393 commonName VAR_026393 VAR_026393 disease phenotype-associated VAR_026393 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] VAR_026394 commonName VAR_026394 VAR_026394 disease phenotype-associated VAR_026394 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] VAR_026395 commonName VAR_026395 VAR_026395 disease phenotype-associated VAR_026395 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] VAR_026396 commonName VAR_026396 VAR_026396 disease phenotype-associated VAR_026396 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] VAR_026397 commonName VAR_026397 VAR_026397 disease phenotype-associated VAR_026397 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] VAR_026398 commonName VAR_026398 VAR_026398 disease phenotype-associated VAR_026398 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] VAR_026399 commonName VAR_026399 VAR_026399 disease phenotype-associated VAR_026399 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] VAR_026400 commonName VAR_026400 VAR_026400 disease phenotype-associated VAR_026400 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] VAR_026401 commonName VAR_026401 VAR_026401 disease phenotype-associated VAR_026401 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] VAR_026402 commonName VAR_026402 VAR_026402 disease not phenotype-associated VAR_026403 commonName VAR_026403 VAR_026403 disease phenotype-associated VAR_026403 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] VAR_026404 commonName VAR_026404 VAR_026404 disease phenotype-associated VAR_026404 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] VAR_026405 commonName VAR_026405 VAR_026405 disease phenotype-associated VAR_026405 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] VAR_026406 commonName VAR_026406 VAR_026406 disease phenotype-associated VAR_026406 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] VAR_026407 commonName VAR_026407 VAR_026407 disease phenotype-associated VAR_026407 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] VAR_026408 commonName VAR_026408 VAR_026408 disease phenotype-associated VAR_026408 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] VAR_026409 commonName VAR_026409 VAR_026409 disease not phenotype-associated VAR_026410 commonName VAR_026410 VAR_026410 disease not phenotype-associated VAR_026411 commonName VAR_026411 VAR_026411 disease not phenotype-associated VAR_026412 commonName VAR_026412 VAR_026412 disease phenotype-associated VAR_026412 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_026413 commonName VAR_026413 VAR_026413 disease phenotype-associated VAR_026413 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_026414 commonName VAR_026414 VAR_026414 disease phenotype-associated VAR_026414 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_026415 commonName VAR_026415 VAR_026415 disease not phenotype-associated VAR_026416 commonName VAR_026416 VAR_026416 disease not phenotype-associated VAR_026417 commonName VAR_026417 VAR_026417 disease not phenotype-associated VAR_026428 commonName VAR_026428 VAR_026428 disease not phenotype-associated VAR_026429 commonName VAR_026429 VAR_026429 disease not phenotype-associated VAR_026430 commonName VAR_026430 VAR_026430 disease not phenotype-associated VAR_026431 commonName VAR_026431 VAR_026431 disease not phenotype-associated VAR_026432 commonName VAR_026432 VAR_026432 disease not phenotype-associated VAR_026433 commonName VAR_026433 VAR_026433 disease not phenotype-associated VAR_026434 commonName VAR_026434 VAR_026434 disease not phenotype-associated VAR_026435 commonName VAR_026435 VAR_026435 disease not phenotype-associated VAR_026436 commonName VAR_026436 VAR_026436 disease not phenotype-associated VAR_026437 commonName VAR_026437 VAR_026437 disease not phenotype-associated VAR_026446 commonName VAR_026446 VAR_026447 commonName VAR_026447 VAR_026447 disease not phenotype-associated VAR_026448 commonName VAR_026448 VAR_026448 disease not phenotype-associated VAR_026449 commonName VAR_026449 VAR_026450 commonName VAR_026450 VAR_026451 commonName VAR_026451 VAR_026451 disease not phenotype-associated VAR_026453 commonName VAR_026453 VAR_026453 disease phenotype-associated VAR_026453 phenoCommon Distal arthrogryposis type 2B (DA2B) [MIM:601680] VAR_026463 commonName VAR_026463 VAR_026463 disease not phenotype-associated VAR_026464 commonName VAR_026464 VAR_026464 disease not phenotype-associated VAR_026465 commonName VAR_026465 VAR_026465 disease not phenotype-associated VAR_026466 commonName VAR_026466 VAR_026466 disease not phenotype-associated VAR_026467 commonName VAR_026467 VAR_026467 disease not phenotype-associated VAR_026468 commonName VAR_026468 VAR_026469 commonName VAR_026469 VAR_026469 disease not phenotype-associated VAR_026470 commonName VAR_026470 VAR_026470 disease not phenotype-associated VAR_026471 commonName VAR_026471 VAR_026471 disease not phenotype-associated VAR_026472 commonName VAR_026472 VAR_026472 disease not phenotype-associated VAR_026473 commonName VAR_026473 VAR_026473 disease not phenotype-associated VAR_026474 commonName VAR_026474 VAR_026474 disease not phenotype-associated VAR_026475 commonName VAR_026475 VAR_026475 disease not phenotype-associated VAR_026476 commonName VAR_026476 VAR_026476 disease not phenotype-associated VAR_026477 commonName VAR_026477 VAR_026477 disease not phenotype-associated VAR_026478 commonName VAR_026478 VAR_026478 disease not phenotype-associated VAR_026479 commonName VAR_026479 VAR_026479 disease not phenotype-associated VAR_026480 commonName VAR_026480 VAR_026480 disease phenotype-associated VAR_026480 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] VAR_026481 commonName VAR_026481 VAR_026481 disease phenotype-associated VAR_026481 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] VAR_026483 commonName VAR_026483 VAR_026483 disease phenotype-associated VAR_026483 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] VAR_026484 commonName VAR_026484 VAR_026484 disease phenotype-associated VAR_026484 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] VAR_026485 commonName VAR_026485 VAR_026485 disease phenotype-associated VAR_026485 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] VAR_026486 commonName VAR_026486 VAR_026486 disease phenotype-associated VAR_026486 phenoCommon Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1) [MIM:240300] VAR_026487 commonName VAR_026487 VAR_026487 disease not phenotype-associated VAR_026488 commonName VAR_026488 VAR_026488 disease not phenotype-associated VAR_026489 commonName VAR_026489 VAR_026489 disease not phenotype-associated VAR_026490 commonName VAR_026490 VAR_026490 disease not phenotype-associated VAR_026491 commonName VAR_026491 VAR_026491 disease phenotype-associated VAR_026491 phenoCommon Incontinentia pigmenti (IP) [MIM:308300] VAR_026493 commonName VAR_026493 VAR_026493 disease not phenotype-associated VAR_026494 commonName VAR_026494 VAR_026494 disease phenotype-associated VAR_026494 phenoCommon Incontinentia pigmenti (IP) [MIM:308300] VAR_026495 commonName VAR_026495 VAR_026495 disease phenotype-associated VAR_026495 phenoCommon Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID) [MIM:300291] VAR_026496 commonName VAR_026496 VAR_026496 disease phenotype-associated VAR_026496 phenoCommon Immunodeficiency NEMO-related without anhidrotic ectodermal dysplasia (NEMOID) [MIM:300584] VAR_026497 commonName VAR_026497 VAR_026497 disease not phenotype-associated VAR_026518 commonName VAR_026518 VAR_026518 disease phenotype-associated VAR_026518 phenoCommon Autosomal recessive pseudohypoaldosteronism type 1 (AR-PHA1) [MIM:264350] VAR_026519 commonName VAR_026519 VAR_026520 commonName VAR_026520 VAR_026520 disease phenotype-associated VAR_026520 phenoCommon Liddle syndrome (LIDDS) [MIM:177200] VAR_026521 commonName VAR_026521 VAR_026521 disease phenotype-associated VAR_026521 phenoCommon Liddle syndrome (LIDDS) [MIM:177200] VAR_026522 commonName VAR_026522 VAR_026522 disease phenotype-associated VAR_026522 phenoCommon Liddle syndrome (LIDDS) [MIM:177200] VAR_026523 commonName VAR_026523 VAR_026523 disease not phenotype-associated VAR_026524 commonName VAR_026524 VAR_026524 disease not phenotype-associated VAR_026525 commonName VAR_026525 VAR_026525 disease not phenotype-associated VAR_026526 commonName VAR_026526 VAR_026526 disease not phenotype-associated VAR_026527 commonName VAR_026527 VAR_026527 disease not phenotype-associated VAR_026528 commonName VAR_026528 VAR_026528 disease not phenotype-associated VAR_026529 commonName VAR_026529 VAR_026529 disease phenotype-associated VAR_026529 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] VAR_026531 commonName VAR_026531 VAR_026531 disease not phenotype-associated VAR_026532 commonName VAR_026532 VAR_026532 disease not phenotype-associated VAR_026533 commonName VAR_026533 VAR_026533 disease phenotype-associated VAR_026533 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_026534 commonName VAR_026534 VAR_026535 commonName VAR_026535 VAR_026535 disease phenotype-associated VAR_026535 phenoCommon Sick sinus syndrome type 2 (SSS2) [MIM:163800] VAR_026536 commonName VAR_026536 VAR_026536 disease phenotype-associated VAR_026536 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_026537 commonName VAR_026537 VAR_026537 disease phenotype-associated VAR_026537 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] VAR_026538 commonName VAR_026538 VAR_026538 disease phenotype-associated VAR_026538 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_026539 commonName VAR_026539 VAR_026539 disease phenotype-associated VAR_026539 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_026540 commonName VAR_026540 VAR_026540 disease phenotype-associated VAR_026540 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_026541 commonName VAR_026541 VAR_026541 disease phenotype-associated VAR_026541 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_026542 commonName VAR_026542 VAR_026542 disease phenotype-associated VAR_026542 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_026543 commonName VAR_026543 VAR_026543 disease phenotype-associated VAR_026543 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_026544 commonName VAR_026544 VAR_026544 disease phenotype-associated VAR_026544 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] VAR_026545 commonName VAR_026545 VAR_026545 disease phenotype-associated VAR_026545 phenoCommon Multiple synostoses syndrome type 2 (SYNS2) [MIM:610017] VAR_026545 phenoCommon Symphalangism proximal syndrome (SYM1) [MIM:185800] VAR_026546 commonName VAR_026546 VAR_026546 disease not phenotype-associated VAR_026547 commonName VAR_026547 VAR_026547 disease not phenotype-associated VAR_026548 commonName VAR_026548 VAR_026548 disease not phenotype-associated VAR_026549 commonName VAR_026549 VAR_026549 disease not phenotype-associated VAR_026550 commonName VAR_026550 VAR_026550 disease not phenotype-associated VAR_026551 commonName VAR_026551 VAR_026551 disease not phenotype-associated VAR_026552 commonName VAR_026552 VAR_026552 disease not phenotype-associated VAR_026553 commonName VAR_026553 VAR_026553 disease not phenotype-associated VAR_026554 commonName VAR_026554 VAR_026554 disease phenotype-associated VAR_026554 phenoCommon Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143] VAR_026555 commonName VAR_026555 VAR_026555 disease phenotype-associated VAR_026555 phenoCommon Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143] VAR_026556 commonName VAR_026556 VAR_026556 disease phenotype-associated VAR_026556 phenoCommon Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143] VAR_026557 commonName VAR_026557 VAR_026557 disease phenotype-associated VAR_026557 phenoCommon Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143] VAR_026558 commonName VAR_026558 VAR_026558 disease not phenotype-associated VAR_026559 commonName VAR_026559 VAR_026559 disease not phenotype-associated VAR_026560 commonName VAR_026560 VAR_026560 disease phenotype-associated VAR_026560 phenoCommon Congenital systemic glutamine deficiency (CSGD) [MIM:610015] VAR_026561 commonName VAR_026561 VAR_026561 disease phenotype-associated VAR_026561 phenoCommon Congenital systemic glutamine deficiency (CSGD) [MIM:610015] VAR_026562 commonName VAR_026562 VAR_026562 disease phenotype-associated VAR_026562 phenoCommon Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] VAR_026563 commonName VAR_026563 VAR_026563 disease phenotype-associated VAR_026563 phenoCommon Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] VAR_026564 commonName VAR_026564 VAR_026564 disease phenotype-associated VAR_026564 phenoCommon Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] VAR_026567 commonName VAR_026567 VAR_026567 disease not phenotype-associated VAR_026568 commonName VAR_026568 VAR_026568 disease not phenotype-associated VAR_026569 commonName VAR_026569 VAR_026569 disease phenotype-associated VAR_026569 phenoCommon Hemolytic uremic syndrome atypical type 2 (AHUS2) [MIM:612922] VAR_026570 commonName VAR_026570 VAR_026570 disease phenotype-associated VAR_026570 phenoCommon Hemolytic uremic syndrome atypical type 2 (AHUS2) [MIM:612922] VAR_026572 commonName VAR_026572 VAR_026572 disease not phenotype-associated VAR_026573 commonName VAR_026573 VAR_026573 disease not phenotype-associated VAR_026574 commonName VAR_026574 VAR_026574 disease not phenotype-associated VAR_026575 commonName VAR_026575 VAR_026575 disease not phenotype-associated VAR_026576 commonName VAR_026576 VAR_026576 disease not phenotype-associated VAR_026577 commonName VAR_026577 VAR_026577 disease not phenotype-associated VAR_026578 commonName VAR_026578 VAR_026578 disease not phenotype-associated VAR_026579 commonName VAR_026579 VAR_026579 disease not phenotype-associated VAR_026580 commonName VAR_026580 VAR_026580 disease not phenotype-associated VAR_026581 commonName VAR_026581 VAR_026581 disease not phenotype-associated VAR_026582 commonName VAR_026582 VAR_026582 disease not phenotype-associated VAR_026584 commonName VAR_026584 VAR_026584 disease not phenotype-associated VAR_026585 commonName VAR_026585 VAR_026585 disease not phenotype-associated VAR_026586 commonName VAR_026586 VAR_026586 disease not phenotype-associated VAR_026587 commonName VAR_026587 VAR_026587 disease not phenotype-associated VAR_026588 commonName VAR_026588 VAR_026588 disease phenotype-associated VAR_026588 phenoCommon Werner syndrome (WRN) [MIM:277700] VAR_026589 commonName VAR_026589 VAR_026589 disease phenotype-associated VAR_026589 phenoCommon Werner syndrome (WRN) [MIM:277700] VAR_026590 commonName VAR_026590 VAR_026590 disease not phenotype-associated VAR_026591 commonName VAR_026591 VAR_026591 disease phenotype-associated VAR_026591 phenoCommon Baller-Gerold syndrome (BGS) [MIM:218600] VAR_026592 commonName VAR_026592 VAR_026592 disease phenotype-associated VAR_026592 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_026593 commonName VAR_026593 VAR_026593 disease phenotype-associated VAR_026593 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_026594 commonName VAR_026594 VAR_026594 disease phenotype-associated VAR_026594 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_026595 commonName VAR_026595 VAR_026595 disease phenotype-associated VAR_026595 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_026596 commonName VAR_026596 VAR_026596 disease phenotype-associated VAR_026596 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_026597 commonName VAR_026597 VAR_026597 disease phenotype-associated VAR_026597 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_026598 commonName VAR_026598 VAR_026598 disease phenotype-associated VAR_026598 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_026599 commonName VAR_026599 VAR_026599 disease phenotype-associated VAR_026599 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_026600 commonName VAR_026600 VAR_026600 disease phenotype-associated VAR_026600 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_026601 commonName VAR_026601 VAR_026601 disease phenotype-associated VAR_026601 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_026602 commonName VAR_026602 VAR_026602 disease phenotype-associated VAR_026602 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_026603 commonName VAR_026603 VAR_026603 disease phenotype-associated VAR_026603 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_026604 commonName VAR_026604 VAR_026604 disease phenotype-associated VAR_026604 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_026605 commonName VAR_026605 VAR_026605 disease phenotype-associated VAR_026605 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_026606 commonName VAR_026606 VAR_026606 disease phenotype-associated VAR_026606 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_026607 commonName VAR_026607 VAR_026607 disease phenotype-associated VAR_026607 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_026608 commonName VAR_026608 VAR_026608 disease phenotype-associated VAR_026608 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_026609 commonName VAR_026609 VAR_026609 disease phenotype-associated VAR_026609 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_026610 commonName VAR_026610 VAR_026610 disease phenotype-associated VAR_026610 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_026611 commonName VAR_026611 VAR_026611 disease phenotype-associated VAR_026611 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_026612 commonName VAR_026612 VAR_026612 disease phenotype-associated VAR_026612 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_026613 commonName VAR_026613 VAR_026613 disease phenotype-associated VAR_026613 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_026614 commonName VAR_026614 VAR_026614 disease phenotype-associated VAR_026614 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_026615 commonName VAR_026615 VAR_026615 disease phenotype-associated VAR_026615 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_026616 commonName VAR_026616 VAR_026616 disease phenotype-associated VAR_026616 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_026617 commonName VAR_026617 VAR_026617 disease phenotype-associated VAR_026617 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_026620 commonName VAR_026620 VAR_026620 disease phenotype-associated VAR_026620 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_026621 commonName VAR_026621 VAR_026621 disease phenotype-associated VAR_026621 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_026622 commonName VAR_026622 VAR_026622 disease phenotype-associated VAR_026622 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_026623 commonName VAR_026623 VAR_026623 disease phenotype-associated VAR_026623 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_026624 commonName VAR_026624 VAR_026624 disease phenotype-associated VAR_026624 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_026625 commonName VAR_026625 VAR_026625 disease phenotype-associated VAR_026625 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_026626 commonName VAR_026626 VAR_026626 disease phenotype-associated VAR_026626 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_026627 commonName VAR_026627 VAR_026627 disease phenotype-associated VAR_026627 phenoCommon Methylmalonic aciduria type mut (MMAM) [MIM:251000] VAR_026628 commonName VAR_026628 VAR_026628 disease not phenotype-associated VAR_026630 comment Multiple cancers VAR_026630 commonName VAR_026630 VAR_026631 commonName VAR_026631 VAR_026631 disease not phenotype-associated VAR_026632 commonName VAR_026632 VAR_026632 disease not phenotype-associated VAR_026633 commonName VAR_026633 VAR_026633 disease phenotype-associated VAR_026633 phenoCommon Neurodegeneration with brain iron accumulation type 3 (NBIA3) [MIM:606159] VAR_026637 commonName VAR_026637 VAR_026637 disease not phenotype-associated VAR_026639 commonName VAR_026639 VAR_026639 disease not phenotype-associated VAR_026640 commonName VAR_026640 VAR_026640 disease not phenotype-associated VAR_026641 commonName VAR_026641 VAR_026641 disease not phenotype-associated VAR_026642 commonName VAR_026642 VAR_026642 disease not phenotype-associated VAR_026643 commonName VAR_026643 VAR_026643 disease not phenotype-associated VAR_026644 commonName VAR_026644 VAR_026644 disease not phenotype-associated VAR_026645 commonName VAR_026645 VAR_026645 disease not phenotype-associated VAR_026646 commonName VAR_026646 VAR_026646 disease not phenotype-associated VAR_026647 commonName VAR_026647 VAR_026647 disease not phenotype-associated VAR_026648 commonName VAR_026648 VAR_026648 disease phenotype-associated VAR_026648 phenoCommon Hemochromatosis type 2B (HFE2B) [MIM:613313] VAR_026650 commonName VAR_026650 VAR_026650 disease phenotype-associated VAR_026650 phenoCommon Cardiomyopathy dilated type 1N (CMD1N) [MIM:607487] VAR_026651 commonName VAR_026651 VAR_026651 disease phenotype-associated VAR_026651 phenoCommon Cardiomyopathy dilated type 1N (CMD1N) [MIM:607487] VAR_026652 commonName VAR_026652 VAR_026652 disease not phenotype-associated VAR_026653 commonName VAR_026653 VAR_026653 disease not phenotype-associated VAR_026654 commonName VAR_026654 VAR_026655 commonName VAR_026655 VAR_026655 disease not phenotype-associated VAR_026656 commonName VAR_026656 VAR_026656 disease not phenotype-associated VAR_026657 commonName VAR_026657 VAR_026657 disease not phenotype-associated VAR_026661 commonName VAR_026661 VAR_026662 commonName VAR_026662 VAR_026663 commonName VAR_026663 VAR_026663 disease not phenotype-associated VAR_026664 commonName VAR_026664 VAR_026664 disease not phenotype-associated VAR_026665 commonName VAR_026665 VAR_026665 disease not phenotype-associated VAR_026667 commonName VAR_026667 VAR_026667 disease not phenotype-associated VAR_026668 commonName VAR_026668 VAR_026668 disease not phenotype-associated VAR_026670 commonName VAR_026670 VAR_026670 disease not phenotype-associated VAR_026673 commonName VAR_026673 VAR_026673 disease not phenotype-associated VAR_026674 commonName VAR_026674 VAR_026674 disease not phenotype-associated VAR_026675 commonName VAR_026675 VAR_026675 disease not phenotype-associated VAR_026677 commonName VAR_026677 VAR_026677 disease not phenotype-associated VAR_026678 commonName VAR_026678 VAR_026678 disease not phenotype-associated VAR_026679 commonName VAR_026679 VAR_026679 disease not phenotype-associated VAR_026680 commonName VAR_026680 VAR_026680 disease not phenotype-associated VAR_026681 commonName VAR_026681 VAR_026681 disease phenotype-associated VAR_026681 phenoCommon Charcot-Marie-Tooth disease dominant intermediate type C (CMTDIC) [MIM:608323] VAR_026683 commonName VAR_026683 VAR_026683 disease not phenotype-associated VAR_026684 commonName VAR_026684 VAR_026684 disease phenotype-associated VAR_026684 phenoCommon Charcot-Marie-Tooth disease dominant intermediate type C (CMTDIC) [MIM:608323] VAR_026696 commonName VAR_026696 VAR_026697 commonName VAR_026697 VAR_026697 disease phenotype-associated VAR_026697 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A1 (MDDGA1) [MIM:236670] VAR_026697 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B1 (MDDGB1) [MIM:613155] VAR_026698 commonName VAR_026698 VAR_026698 disease not phenotype-associated VAR_026699 commonName VAR_026699 VAR_026699 disease not phenotype-associated VAR_026700 commonName VAR_026700 VAR_026700 disease not phenotype-associated VAR_026701 commonName VAR_026701 VAR_026701 disease not phenotype-associated VAR_026702 commonName VAR_026702 VAR_026702 disease not phenotype-associated VAR_026703 commonName VAR_026703 VAR_026703 disease not phenotype-associated VAR_026705 commonName VAR_026705 VAR_026705 disease not phenotype-associated VAR_026706 commonName VAR_026706 VAR_026706 disease phenotype-associated VAR_026706 phenoCommon Congenital lactase deficiency (COLACD) [MIM:223000] VAR_026707 commonName VAR_026707 VAR_026707 disease not phenotype-associated VAR_026708 commonName VAR_026708 VAR_026708 disease phenotype-associated VAR_026708 phenoCommon Congenital lactase deficiency (COLACD) [MIM:223000] VAR_026709 commonName VAR_026709 VAR_026709 disease not phenotype-associated VAR_026710 commonName VAR_026710 VAR_026710 disease not phenotype-associated VAR_026711 commonName VAR_026711 VAR_026711 disease phenotype-associated VAR_026711 phenoCommon Hydatidiform mole recurrent type 1 (HYDM1) [MIM:231090] VAR_026712 commonName VAR_026712 VAR_026712 disease phenotype-associated VAR_026712 phenoCommon Hydatidiform mole recurrent type 1 (HYDM1) [MIM:231090] VAR_026713 commonName VAR_026713 VAR_026713 disease phenotype-associated VAR_026713 phenoCommon Hydatidiform mole recurrent type 1 (HYDM1) [MIM:231090] VAR_026715 commonName VAR_026715 VAR_026715 disease not phenotype-associated VAR_026716 commonName VAR_026716 VAR_026716 disease not phenotype-associated VAR_026718 commonName VAR_026718 VAR_026718 disease not phenotype-associated VAR_026719 commonName VAR_026719 VAR_026719 disease not phenotype-associated VAR_026720 commonName VAR_026720 VAR_026720 disease not phenotype-associated VAR_026721 commonName VAR_026721 VAR_026721 disease not phenotype-associated VAR_026722 commonName VAR_026722 VAR_026722 disease not phenotype-associated VAR_026723 commonName VAR_026723 VAR_026723 disease not phenotype-associated VAR_026725 commonName VAR_026725 VAR_026725 disease not phenotype-associated VAR_026726 commonName VAR_026726 VAR_026726 disease not phenotype-associated VAR_026727 commonName VAR_026727 VAR_026727 disease not phenotype-associated VAR_026728 commonName VAR_026728 VAR_026728 disease not phenotype-associated VAR_026729 commonName VAR_026729 VAR_026729 disease not phenotype-associated VAR_026730 commonName VAR_026730 VAR_026730 disease phenotype-associated VAR_026730 phenoCommon Focal segmental glomerulosclerosis type 2 (FSGS2) [MIM:603965] VAR_026731 commonName VAR_026731 VAR_026731 disease phenotype-associated VAR_026731 phenoCommon Focal segmental glomerulosclerosis type 2 (FSGS2) [MIM:603965] VAR_026732 commonName VAR_026732 VAR_026732 disease phenotype-associated VAR_026732 phenoCommon Focal segmental glomerulosclerosis type 2 (FSGS2) [MIM:603965] VAR_026733 commonName VAR_026733 VAR_026733 disease phenotype-associated VAR_026733 phenoCommon Focal segmental glomerulosclerosis type 2 (FSGS2) [MIM:603965] VAR_026734 commonName VAR_026734 VAR_026734 disease phenotype-associated VAR_026734 phenoCommon Focal segmental glomerulosclerosis type 2 (FSGS2) [MIM:603965] VAR_026735 commonName VAR_026735 VAR_026735 disease phenotype-associated VAR_026735 phenoCommon Dystonia type 12 (DYT12) [MIM:128235] VAR_026736 commonName VAR_026736 VAR_026736 disease phenotype-associated VAR_026736 phenoCommon Dystonia type 12 (DYT12) [MIM:128235] VAR_026737 commonName VAR_026737 VAR_026737 disease phenotype-associated VAR_026737 phenoCommon Dystonia type 12 (DYT12) [MIM:128235] VAR_026738 commonName VAR_026738 VAR_026738 disease phenotype-associated VAR_026738 phenoCommon Dystonia type 12 (DYT12) [MIM:128235] VAR_026739 commonName VAR_026739 VAR_026739 disease phenotype-associated VAR_026739 phenoCommon Dystonia type 12 (DYT12) [MIM:128235] VAR_026740 commonName VAR_026740 VAR_026740 disease phenotype-associated VAR_026740 phenoCommon Dystonia type 12 (DYT12) [MIM:128235] VAR_026741 commonName VAR_026741 VAR_026741 disease phenotype-associated VAR_026741 phenoCommon Timothy syndrome (TS) [MIM:601005] VAR_026742 commonName VAR_026742 VAR_026742 disease phenotype-associated VAR_026742 phenoCommon Timothy syndrome (TS) [MIM:601005] VAR_026743 commonName VAR_026743 VAR_026743 disease phenotype-associated VAR_026743 phenoCommon Amyotrophic lateral sclerosis type 8 (ALS8) [MIM:608627] VAR_026743 phenoCommon Spinal muscular atrophy proximal adult autosomal dominant (SMAPAD) [MIM:182980] VAR_026744 commonName VAR_026744 VAR_026744 disease phenotype-associated VAR_026744 phenoCommon Left ventricular non-compaction type 1 (LVNC1) [MIM:604169] VAR_026745 commonName VAR_026745 VAR_026745 disease phenotype-associated VAR_026745 phenoCommon Small patella syndrome (SPS) [MIM:147891] VAR_026746 commonName VAR_026746 VAR_026746 disease phenotype-associated VAR_026746 phenoCommon Small patella syndrome (SPS) [MIM:147891] VAR_026748 commonName VAR_026748 VAR_026748 disease phenotype-associated VAR_026748 phenoCommon Spastic paraplegia autosomal dominant type 13 (SPG13) [MIM:605280] VAR_026750 commonName VAR_026750 VAR_026750 disease phenotype-associated VAR_026750 phenoCommon Dystonia type 11 (DYT11) [MIM:159900] VAR_026751 commonName VAR_026751 VAR_026751 disease not phenotype-associated VAR_026752 commonName VAR_026752 VAR_026752 disease phenotype-associated VAR_026752 phenoCommon Beta-ureidopropionase deficiency (BUPD) [MIM:613161] VAR_026753 commonName VAR_026753 VAR_026753 disease phenotype-associated VAR_026753 phenoCommon Pulmonary surfactant metabolism dysfunction type 2 (SMDP2) [MIM:610913] VAR_026754 commonName VAR_026754 VAR_026754 disease phenotype-associated VAR_026754 phenoCommon Pulmonary surfactant metabolism dysfunction type 2 (SMDP2) [MIM:610913] VAR_026758 commonName VAR_026758 VAR_026758 disease phenotype-associated VAR_026758 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_026759 commonName VAR_026759 VAR_026759 disease phenotype-associated VAR_026759 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_026760 commonName VAR_026760 VAR_026760 disease phenotype-associated VAR_026760 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_026761 commonName VAR_026761 VAR_026761 disease phenotype-associated VAR_026761 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_026762 commonName VAR_026762 VAR_026762 disease phenotype-associated VAR_026762 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_026763 commonName VAR_026763 VAR_026763 disease phenotype-associated VAR_026763 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_026764 commonName VAR_026764 VAR_026764 disease not phenotype-associated VAR_026765 commonName VAR_026765 VAR_026765 disease not phenotype-associated VAR_026766 commonName VAR_026766 VAR_026766 disease not phenotype-associated VAR_026767 commonName VAR_026767 VAR_026767 disease phenotype-associated VAR_026767 phenoCommon Spinocerebellar ataxia type 5 (SCA5) [MIM:600224] VAR_026770 commonName VAR_026770 VAR_026770 disease not phenotype-associated VAR_026771 commonName VAR_026771 VAR_026771 disease not phenotype-associated VAR_026772 commonName VAR_026772 VAR_026772 disease not phenotype-associated VAR_026773 commonName VAR_026773 VAR_026773 disease not phenotype-associated VAR_026774 commonName VAR_026774 VAR_026774 disease phenotype-associated VAR_026774 phenoCommon Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300] VAR_026775 commonName VAR_026775 VAR_026775 disease phenotype-associated VAR_026775 phenoCommon Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300] VAR_026776 commonName VAR_026776 VAR_026776 disease phenotype-associated VAR_026776 phenoCommon Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300] VAR_026780 commonName VAR_026780 VAR_026780 disease phenotype-associated VAR_026780 phenoCommon Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300] VAR_026781 commonName VAR_026781 VAR_026781 disease phenotype-associated VAR_026781 phenoCommon Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300] VAR_026785 commonName VAR_026785 VAR_026785 disease phenotype-associated VAR_026785 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_026786 commonName VAR_026786 VAR_026786 disease phenotype-associated VAR_026786 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_026787 commonName VAR_026787 VAR_026787 disease phenotype-associated VAR_026787 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_026788 commonName VAR_026788 VAR_026788 disease phenotype-associated VAR_026788 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_026789 commonName VAR_026789 VAR_026789 disease phenotype-associated VAR_026789 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_026790 commonName VAR_026790 VAR_026790 disease phenotype-associated VAR_026790 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_026791 commonName VAR_026791 VAR_026791 disease phenotype-associated VAR_026791 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_026794 commonName VAR_026794 VAR_026794 disease phenotype-associated VAR_026794 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_026795 commonName VAR_026795 VAR_026795 disease phenotype-associated VAR_026795 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_026796 commonName VAR_026796 VAR_026796 disease phenotype-associated VAR_026796 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_026797 commonName VAR_026797 VAR_026797 disease phenotype-associated VAR_026797 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_026798 commonName VAR_026798 VAR_026798 disease phenotype-associated VAR_026798 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_026799 commonName VAR_026799 VAR_026799 disease phenotype-associated VAR_026799 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_026800 commonName VAR_026800 VAR_026800 disease phenotype-associated VAR_026800 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_026801 commonName VAR_026801 VAR_026801 disease phenotype-associated VAR_026801 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_026802 commonName VAR_026802 VAR_026802 disease phenotype-associated VAR_026802 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_026803 commonName VAR_026803 VAR_026803 disease phenotype-associated VAR_026803 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_026804 commonName VAR_026804 VAR_026804 disease phenotype-associated VAR_026804 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_026805 commonName VAR_026805 VAR_026805 disease phenotype-associated VAR_026805 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_026806 commonName VAR_026806 VAR_026806 disease phenotype-associated VAR_026806 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_026807 commonName VAR_026807 VAR_026807 disease phenotype-associated VAR_026807 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_026808 commonName VAR_026808 VAR_026808 disease phenotype-associated VAR_026808 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_026809 commonName VAR_026809 VAR_026809 disease phenotype-associated VAR_026809 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_026810 commonName VAR_026810 VAR_026810 disease phenotype-associated VAR_026810 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_026811 commonName VAR_026811 VAR_026811 disease phenotype-associated VAR_026811 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_026813 commonName VAR_026813 VAR_026813 disease phenotype-associated VAR_026813 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_026814 commonName VAR_026814 VAR_026814 disease phenotype-associated VAR_026814 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_026815 commonName VAR_026815 VAR_026815 disease phenotype-associated VAR_026815 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_026816 commonName VAR_026816 VAR_026816 disease phenotype-associated VAR_026816 phenoCommon Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376] VAR_026819 commonName VAR_026819 VAR_026819 disease not phenotype-associated VAR_026820 commonName VAR_026820 VAR_026820 disease not phenotype-associated VAR_026821 commonName VAR_026821 VAR_026821 disease not phenotype-associated VAR_026822 commonName VAR_026822 VAR_026822 disease not phenotype-associated VAR_026823 commonName VAR_026823 VAR_026823 disease not phenotype-associated VAR_026824 commonName VAR_026824 VAR_026824 disease not phenotype-associated VAR_026825 commonName VAR_026825 VAR_026825 disease not phenotype-associated VAR_026826 commonName VAR_026826 VAR_026827 commonName VAR_026827 VAR_026827 disease not phenotype-associated VAR_026828 commonName VAR_026828 VAR_026828 disease phenotype-associated VAR_026828 phenoCommon Albinism oculocutaneous type 3 (OCA3) [MIM:203290] VAR_026829 commonName VAR_026829 VAR_026829 disease not phenotype-associated VAR_026830 commonName VAR_026830 VAR_026830 disease not phenotype-associated VAR_026831 commonName VAR_026831 VAR_026831 disease not phenotype-associated VAR_026833 commonName VAR_026833 VAR_026833 disease not phenotype-associated VAR_026834 commonName VAR_026834 VAR_026834 disease not phenotype-associated VAR_026835 commonName VAR_026835 VAR_026835 disease not phenotype-associated VAR_026836 commonName VAR_026836 VAR_026836 disease not phenotype-associated VAR_026837 commonName VAR_026837 VAR_026837 disease not phenotype-associated VAR_026838 commonName VAR_026838 VAR_026838 disease not phenotype-associated VAR_026839 commonName VAR_026839 VAR_026839 disease not phenotype-associated VAR_026840 commonName VAR_026840 VAR_026840 disease not phenotype-associated VAR_026841 commonName VAR_026841 VAR_026841 disease not phenotype-associated VAR_026842 commonName VAR_026842 VAR_026842 disease not phenotype-associated VAR_026843 commonName VAR_026843 VAR_026843 disease not phenotype-associated VAR_026844 commonName VAR_026844 VAR_026844 disease not phenotype-associated VAR_026845 commonName VAR_026845 VAR_026845 disease not phenotype-associated VAR_026846 commonName VAR_026846 VAR_026846 disease not phenotype-associated VAR_026847 commonName VAR_026847 VAR_026847 disease not phenotype-associated VAR_026848 commonName VAR_026848 VAR_026848 disease not phenotype-associated VAR_026849 commonName VAR_026849 VAR_026849 disease not phenotype-associated VAR_026850 commonName VAR_026850 VAR_026850 disease not phenotype-associated VAR_026851 commonName VAR_026851 VAR_026851 disease not phenotype-associated VAR_026852 commonName VAR_026852 VAR_026852 disease not phenotype-associated VAR_026853 commonName VAR_026853 VAR_026853 disease not phenotype-associated VAR_026854 commonName VAR_026854 VAR_026854 disease not phenotype-associated VAR_026855 commonName VAR_026855 VAR_026855 disease not phenotype-associated VAR_026856 commonName VAR_026856 VAR_026856 disease not phenotype-associated VAR_026857 commonName VAR_026857 VAR_026857 disease not phenotype-associated VAR_026858 commonName VAR_026858 VAR_026858 disease not phenotype-associated VAR_026859 commonName VAR_026859 VAR_026859 disease not phenotype-associated VAR_026860 commonName VAR_026860 VAR_026860 disease not phenotype-associated VAR_026861 commonName VAR_026861 VAR_026861 disease not phenotype-associated VAR_026862 commonName VAR_026862 VAR_026862 disease not phenotype-associated VAR_026863 commonName VAR_026863 VAR_026863 disease not phenotype-associated VAR_026864 commonName VAR_026864 VAR_026864 disease not phenotype-associated VAR_026865 commonName VAR_026865 VAR_026865 disease not phenotype-associated VAR_026866 commonName VAR_026866 VAR_026866 disease not phenotype-associated VAR_026867 commonName VAR_026867 VAR_026867 disease not phenotype-associated VAR_026868 commonName VAR_026868 VAR_026868 disease not phenotype-associated VAR_026869 commonName VAR_026869 VAR_026869 disease not phenotype-associated VAR_026870 commonName VAR_026870 VAR_026870 disease not phenotype-associated VAR_026871 commonName VAR_026871 VAR_026871 disease not phenotype-associated VAR_026872 commonName VAR_026872 VAR_026872 disease not phenotype-associated VAR_026873 commonName VAR_026873 VAR_026873 disease not phenotype-associated VAR_026874 commonName VAR_026874 VAR_026874 disease not phenotype-associated VAR_026875 commonName VAR_026875 VAR_026875 disease not phenotype-associated VAR_026877 commonName VAR_026877 VAR_026877 disease not phenotype-associated VAR_026878 commonName VAR_026878 VAR_026878 disease not phenotype-associated VAR_026879 commonName VAR_026879 VAR_026879 disease not phenotype-associated VAR_026882 commonName VAR_026882 VAR_026882 disease not phenotype-associated VAR_026883 commonName VAR_026883 VAR_026883 disease not phenotype-associated VAR_026888 commonName VAR_026888 VAR_026888 disease not phenotype-associated VAR_026890 commonName VAR_026890 VAR_026890 disease not phenotype-associated VAR_026891 commonName VAR_026891 VAR_026891 disease not phenotype-associated VAR_026892 commonName VAR_026892 VAR_026892 disease not phenotype-associated VAR_026893 commonName VAR_026893 VAR_026893 disease not phenotype-associated VAR_026894 commonName VAR_026894 VAR_026894 disease not phenotype-associated VAR_026895 commonName VAR_026895 VAR_026895 disease not phenotype-associated VAR_026896 commonName VAR_026896 VAR_026896 disease not phenotype-associated VAR_026897 commonName VAR_026897 VAR_026897 disease not phenotype-associated VAR_026898 commonName VAR_026898 VAR_026898 disease not phenotype-associated VAR_026899 commonName VAR_026899 VAR_026899 disease not phenotype-associated VAR_026900 commonName VAR_026900 VAR_026900 disease not phenotype-associated VAR_026901 commonName VAR_026901 VAR_026901 disease not phenotype-associated VAR_026902 commonName VAR_026902 VAR_026902 disease not phenotype-associated VAR_026903 commonName VAR_026903 VAR_026903 disease not phenotype-associated VAR_026904 commonName VAR_026904 VAR_026904 disease not phenotype-associated VAR_026905 commonName VAR_026905 VAR_026905 disease not phenotype-associated VAR_026906 commonName VAR_026906 VAR_026906 disease not phenotype-associated VAR_026907 commonName VAR_026907 VAR_026907 disease not phenotype-associated VAR_026912 commonName VAR_026912 VAR_026912 disease not phenotype-associated VAR_026913 commonName VAR_026913 VAR_026913 disease not phenotype-associated VAR_026915 commonName VAR_026915 VAR_026915 disease phenotype-associated VAR_026915 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026916 commonName VAR_026916 VAR_026916 disease phenotype-associated VAR_026916 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026917 commonName VAR_026917 VAR_026917 disease phenotype-associated VAR_026917 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026918 commonName VAR_026918 VAR_026918 disease phenotype-associated VAR_026918 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026919 commonName VAR_026919 VAR_026919 disease phenotype-associated VAR_026919 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026920 commonName VAR_026920 VAR_026920 disease phenotype-associated VAR_026920 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026921 commonName VAR_026921 VAR_026921 disease phenotype-associated VAR_026921 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026922 commonName VAR_026922 VAR_026922 disease phenotype-associated VAR_026922 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026923 commonName VAR_026923 VAR_026923 disease phenotype-associated VAR_026923 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026924 commonName VAR_026924 VAR_026924 disease phenotype-associated VAR_026924 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026926 commonName VAR_026926 VAR_026926 disease phenotype-associated VAR_026926 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026928 commonName VAR_026928 VAR_026928 disease phenotype-associated VAR_026928 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026929 commonName VAR_026929 VAR_026929 disease phenotype-associated VAR_026929 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026930 commonName VAR_026930 VAR_026930 disease phenotype-associated VAR_026930 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026931 commonName VAR_026931 VAR_026931 disease phenotype-associated VAR_026931 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026932 commonName VAR_026932 VAR_026932 disease phenotype-associated VAR_026932 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026933 commonName VAR_026933 VAR_026933 disease phenotype-associated VAR_026933 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026934 commonName VAR_026934 VAR_026934 disease phenotype-associated VAR_026934 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026935 commonName VAR_026935 VAR_026935 disease phenotype-associated VAR_026935 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026936 commonName VAR_026936 VAR_026936 disease phenotype-associated VAR_026936 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026937 commonName VAR_026937 VAR_026937 disease phenotype-associated VAR_026937 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026938 commonName VAR_026938 VAR_026938 disease phenotype-associated VAR_026938 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026939 commonName VAR_026939 VAR_026939 disease phenotype-associated VAR_026939 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026940 commonName VAR_026940 VAR_026940 disease phenotype-associated VAR_026940 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026941 commonName VAR_026941 VAR_026941 disease phenotype-associated VAR_026941 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026942 commonName VAR_026942 VAR_026942 disease phenotype-associated VAR_026942 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026943 commonName VAR_026943 VAR_026943 disease phenotype-associated VAR_026943 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026944 commonName VAR_026944 VAR_026944 disease phenotype-associated VAR_026944 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026945 commonName VAR_026945 VAR_026945 disease phenotype-associated VAR_026945 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026946 commonName VAR_026946 VAR_026947 commonName VAR_026947 VAR_026947 disease phenotype-associated VAR_026947 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026948 commonName VAR_026948 VAR_026948 disease phenotype-associated VAR_026948 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026949 commonName VAR_026949 VAR_026949 disease phenotype-associated VAR_026949 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026950 commonName VAR_026950 VAR_026950 disease phenotype-associated VAR_026950 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026951 commonName VAR_026951 VAR_026951 disease phenotype-associated VAR_026951 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026952 commonName VAR_026952 VAR_026952 disease phenotype-associated VAR_026952 phenoCommon Mucopolysaccharidosis type 2 (MPS2) [MIM:309900] VAR_026963 commonName VAR_026963 VAR_026963 disease not phenotype-associated VAR_026964 commonName VAR_026964 VAR_026964 disease not phenotype-associated VAR_026965 commonName VAR_026965 VAR_026965 disease not phenotype-associated VAR_026966 commonName VAR_026966 VAR_026966 disease not phenotype-associated VAR_026967 commonName VAR_026967 VAR_026967 disease not phenotype-associated VAR_026968 commonName VAR_026968 VAR_026968 disease not phenotype-associated VAR_026969 commonName VAR_026969 VAR_026970 commonName VAR_026970 VAR_026970 disease not phenotype-associated VAR_026971 commonName VAR_026971 VAR_026971 disease not phenotype-associated VAR_026972 commonName VAR_026972 VAR_026972 disease not phenotype-associated VAR_026973 commonName VAR_026973 VAR_026973 disease not phenotype-associated VAR_026974 commonName VAR_026974 VAR_026975 commonName VAR_026975 VAR_026976 commonName VAR_026976 VAR_026977 commonName VAR_026977 VAR_026977 disease not phenotype-associated VAR_026978 commonName VAR_026978 VAR_026978 disease not phenotype-associated VAR_026979 commonName VAR_026979 VAR_026979 disease not phenotype-associated VAR_026982 commonName VAR_026982 VAR_026982 disease not phenotype-associated VAR_026983 commonName VAR_026983 VAR_026983 disease not phenotype-associated VAR_026984 commonName VAR_026984 VAR_026984 disease not phenotype-associated VAR_026985 commonName VAR_026985 VAR_026985 disease not phenotype-associated VAR_026986 commonName VAR_026986 VAR_026986 disease not phenotype-associated VAR_026987 commonName VAR_026987 VAR_026987 disease phenotype-associated VAR_026987 phenoCommon Benign familial neonatal seizures type 1 (BFNS1) [MIM:121200] VAR_026988 commonName VAR_026988 VAR_026988 disease phenotype-associated VAR_026988 phenoCommon Benign familial neonatal seizures type 1 (BFNS1) [MIM:121200] VAR_026989 commonName VAR_026989 VAR_026989 disease phenotype-associated VAR_026989 phenoCommon Benign familial neonatal seizures type 1 (BFNS1) [MIM:121200] VAR_026990 commonName VAR_026990 VAR_026990 disease phenotype-associated VAR_026990 phenoCommon Benign familial neonatal seizures type 1 (BFNS1) [MIM:121200] VAR_026991 commonName VAR_026991 VAR_026991 disease phenotype-associated VAR_026991 phenoCommon Epileptic encephalopathy early infantile type 7 (EIEE7) [MIM:613720] VAR_026992 commonName VAR_026992 VAR_026992 disease phenotype-associated VAR_026992 phenoCommon Benign familial neonatal seizures type 1 (BFNS1) [MIM:121200] VAR_026993 commonName VAR_026993 VAR_026993 disease phenotype-associated VAR_026993 phenoCommon Benign familial neonatal seizures type 1 (BFNS1) [MIM:121200] VAR_026993 phenoCommon Epileptic encephalopathy early infantile type 7 (EIEE7) [MIM:613720] VAR_026994 commonName VAR_026994 VAR_026994 disease phenotype-associated VAR_026994 phenoCommon Benign familial neonatal seizures type 2 (BFNS2) [MIM:121201] VAR_026995 commonName VAR_026995 VAR_026996 commonName VAR_026996 VAR_026996 disease not phenotype-associated VAR_026997 commonName VAR_026997 VAR_026997 disease not phenotype-associated VAR_026998 commonName VAR_026998 VAR_026998 disease not phenotype-associated VAR_026999 commonName VAR_026999 VAR_026999 disease not phenotype-associated VAR_027000 commonName VAR_027000 VAR_027000 disease not phenotype-associated VAR_027001 commonName VAR_027001 VAR_027001 disease not phenotype-associated VAR_027002 commonName VAR_027002 VAR_027002 disease not phenotype-associated VAR_027003 commonName VAR_027003 VAR_027003 disease not phenotype-associated VAR_027005 commonName VAR_027005 VAR_027005 disease not phenotype-associated VAR_027006 commonName VAR_027006 VAR_027006 disease not phenotype-associated VAR_027007 commonName VAR_027007 VAR_027007 disease not phenotype-associated VAR_027008 commonName VAR_027008 VAR_027008 disease not phenotype-associated VAR_027009 commonName VAR_027009 VAR_027009 disease not phenotype-associated VAR_027010 commonName VAR_027010 VAR_027010 disease not phenotype-associated VAR_027011 commonName VAR_027011 VAR_027011 disease not phenotype-associated VAR_027013 commonName VAR_027013 VAR_027013 disease not phenotype-associated VAR_027014 commonName VAR_027014 VAR_027014 disease not phenotype-associated VAR_027017 commonName VAR_027017 VAR_027017 disease phenotype-associated VAR_027017 phenoCommon Mowat-Wilson syndrome (MWIS) [MIM:235730] VAR_027019 commonName VAR_027019 VAR_027019 disease phenotype-associated VAR_027019 phenoCommon Cutis laxa, autosomal recessive, type 1B (ARCL1B) [MIM:614437] VAR_027020 commonName VAR_027020 VAR_027020 disease not phenotype-associated VAR_027021 commonName VAR_027021 VAR_027021 disease phenotype-associated VAR_027021 phenoCommon Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700] VAR_027022 commonName VAR_027022 VAR_027022 disease not phenotype-associated VAR_027023 commonName VAR_027023 VAR_027023 disease not phenotype-associated VAR_027024 commonName VAR_027024 VAR_027024 disease not phenotype-associated VAR_027026 commonName VAR_027026 VAR_027026 disease not phenotype-associated VAR_027027 commonName VAR_027027 VAR_027027 disease not phenotype-associated VAR_027028 commonName VAR_027028 VAR_027028 disease not phenotype-associated VAR_027029 commonName VAR_027029 VAR_027029 disease not phenotype-associated VAR_027032 commonName VAR_027032 VAR_027032 disease not phenotype-associated VAR_027033 commonName VAR_027033 VAR_027033 disease not phenotype-associated VAR_027034 commonName VAR_027034 VAR_027034 disease not phenotype-associated VAR_027035 commonName VAR_027035 VAR_027035 disease not phenotype-associated VAR_027036 commonName VAR_027036 VAR_027036 disease not phenotype-associated VAR_027039 commonName VAR_027039 VAR_027039 disease not phenotype-associated VAR_027040 commonName VAR_027040 VAR_027040 disease not phenotype-associated VAR_027041 commonName VAR_027041 VAR_027041 disease not phenotype-associated VAR_027042 commonName VAR_027042 VAR_027042 disease not phenotype-associated VAR_027043 commonName VAR_027043 VAR_027043 disease not phenotype-associated VAR_027044 commonName VAR_027044 VAR_027044 disease not phenotype-associated VAR_027045 commonName VAR_027045 VAR_027045 disease not phenotype-associated VAR_027046 commonName VAR_027046 VAR_027046 disease not phenotype-associated VAR_027047 commonName VAR_027047 VAR_027047 disease not phenotype-associated VAR_027048 commonName VAR_027048 VAR_027048 disease not phenotype-associated VAR_027049 commonName VAR_027049 VAR_027049 disease not phenotype-associated VAR_027050 commonName VAR_027050 VAR_027050 disease not phenotype-associated VAR_027051 commonName VAR_027051 VAR_027051 disease not phenotype-associated VAR_027052 commonName VAR_027052 VAR_027052 disease not phenotype-associated VAR_027058 commonName VAR_027058 VAR_027058 disease not phenotype-associated VAR_027059 commonName VAR_027059 VAR_027059 disease not phenotype-associated VAR_027060 commonName VAR_027060 VAR_027060 disease not phenotype-associated VAR_027061 commonName VAR_027061 VAR_027061 disease not phenotype-associated VAR_027062 commonName VAR_027062 VAR_027062 disease not phenotype-associated VAR_027063 commonName VAR_027063 VAR_027063 disease not phenotype-associated VAR_027064 commonName VAR_027064 VAR_027064 disease not phenotype-associated VAR_027065 commonName VAR_027065 VAR_027065 disease not phenotype-associated VAR_027066 commonName VAR_027066 VAR_027066 disease not phenotype-associated VAR_027067 commonName VAR_027067 VAR_027067 disease not phenotype-associated VAR_027068 commonName VAR_027068 VAR_027068 disease not phenotype-associated VAR_027069 commonName VAR_027069 VAR_027069 disease not phenotype-associated VAR_027070 commonName VAR_027070 VAR_027070 disease not phenotype-associated VAR_027071 commonName VAR_027071 VAR_027071 disease not phenotype-associated VAR_027072 commonName VAR_027072 VAR_027072 disease not phenotype-associated VAR_027073 commonName VAR_027073 VAR_027073 disease not phenotype-associated VAR_027077 commonName VAR_027077 VAR_027077 disease not phenotype-associated VAR_027078 commonName VAR_027078 VAR_027078 disease not phenotype-associated VAR_027079 commonName VAR_027079 VAR_027079 disease not phenotype-associated VAR_027080 commonName VAR_027080 VAR_027080 disease not phenotype-associated VAR_027081 commonName VAR_027081 VAR_027081 disease not phenotype-associated VAR_027082 commonName VAR_027082 VAR_027082 disease not phenotype-associated VAR_027083 commonName VAR_027083 VAR_027083 disease not phenotype-associated VAR_027084 commonName VAR_027084 VAR_027084 disease not phenotype-associated VAR_027085 commonName VAR_027085 VAR_027085 disease not phenotype-associated VAR_027086 commonName VAR_027086 VAR_027086 disease not phenotype-associated VAR_027087 commonName VAR_027087 VAR_027087 disease not phenotype-associated VAR_027088 commonName VAR_027088 VAR_027088 disease not phenotype-associated VAR_027089 commonName VAR_027089 VAR_027089 disease not phenotype-associated VAR_027090 commonName VAR_027090 VAR_027090 disease not phenotype-associated VAR_027091 commonName VAR_027091 VAR_027091 disease not phenotype-associated VAR_027092 commonName VAR_027092 VAR_027092 disease not phenotype-associated VAR_027093 commonName VAR_027093 VAR_027093 disease not phenotype-associated VAR_027095 commonName VAR_027095 VAR_027095 disease not phenotype-associated VAR_027096 commonName VAR_027096 VAR_027096 disease not phenotype-associated VAR_027099 commonName VAR_027099 VAR_027099 disease not phenotype-associated VAR_027101 commonName VAR_027101 VAR_027101 disease not phenotype-associated VAR_027102 commonName VAR_027102 VAR_027102 disease not phenotype-associated VAR_027103 commonName VAR_027103 VAR_027103 disease not phenotype-associated VAR_027104 commonName VAR_027104 VAR_027104 disease not phenotype-associated VAR_027105 commonName VAR_027105 VAR_027105 disease not phenotype-associated VAR_027106 commonName VAR_027106 VAR_027106 disease not phenotype-associated VAR_027109 commonName VAR_027109 VAR_027109 disease not phenotype-associated VAR_027110 commonName VAR_027110 VAR_027110 disease phenotype-associated VAR_027110 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_027111 commonName VAR_027111 VAR_027111 disease phenotype-associated VAR_027111 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_027112 commonName VAR_027112 VAR_027112 disease phenotype-associated VAR_027112 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_027113 commonName VAR_027113 VAR_027113 disease phenotype-associated VAR_027113 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_027114 commonName VAR_027114 VAR_027114 disease phenotype-associated VAR_027114 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_027115 commonName VAR_027115 VAR_027115 disease phenotype-associated VAR_027115 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_027116 commonName VAR_027116 VAR_027116 disease phenotype-associated VAR_027116 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_027117 commonName VAR_027117 VAR_027117 disease phenotype-associated VAR_027117 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_027118 commonName VAR_027118 VAR_027118 disease phenotype-associated VAR_027118 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_027119 commonName VAR_027119 VAR_027119 disease phenotype-associated VAR_027119 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_027120 commonName VAR_027120 VAR_027120 disease not phenotype-associated VAR_027121 commonName VAR_027121 VAR_027121 disease not phenotype-associated VAR_027122 commonName VAR_027122 VAR_027122 disease phenotype-associated VAR_027122 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_027123 commonName VAR_027123 VAR_027123 disease phenotype-associated VAR_027123 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_027124 commonName VAR_027124 VAR_027124 disease not phenotype-associated VAR_027125 commonName VAR_027125 VAR_027125 disease not phenotype-associated VAR_027126 commonName VAR_027126 VAR_027126 disease phenotype-associated VAR_027126 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_027127 commonName VAR_027127 VAR_027127 disease phenotype-associated VAR_027127 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_027128 commonName VAR_027128 VAR_027128 disease not phenotype-associated VAR_027129 commonName VAR_027129 VAR_027129 disease not phenotype-associated VAR_027130 commonName VAR_027130 VAR_027130 disease not phenotype-associated VAR_027131 commonName VAR_027131 VAR_027131 disease phenotype-associated VAR_027131 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_027132 commonName VAR_027132 VAR_027132 disease phenotype-associated VAR_027132 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_027133 commonName VAR_027133 VAR_027133 disease phenotype-associated VAR_027133 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_027134 commonName VAR_027134 VAR_027134 disease not phenotype-associated VAR_027135 commonName VAR_027135 VAR_027140 commonName VAR_027140 VAR_027140 disease not phenotype-associated VAR_027141 commonName VAR_027141 VAR_027141 disease not phenotype-associated VAR_027142 commonName VAR_027142 VAR_027142 disease not phenotype-associated VAR_027143 commonName VAR_027143 VAR_027143 disease not phenotype-associated VAR_027144 commonName VAR_027144 VAR_027144 disease not phenotype-associated VAR_027145 commonName VAR_027145 VAR_027145 disease not phenotype-associated VAR_027146 commonName VAR_027146 VAR_027146 disease not phenotype-associated VAR_027147 commonName VAR_027147 VAR_027147 disease not phenotype-associated VAR_027149 commonName VAR_027149 VAR_027149 disease not phenotype-associated VAR_027150 commonName VAR_027150 VAR_027150 disease not phenotype-associated VAR_027151 commonName VAR_027151 VAR_027151 disease not phenotype-associated VAR_027152 commonName VAR_027152 VAR_027152 disease not phenotype-associated VAR_027153 commonName VAR_027153 VAR_027153 disease not phenotype-associated VAR_027154 commonName VAR_027154 VAR_027154 disease not phenotype-associated VAR_027155 commonName VAR_027155 VAR_027155 disease not phenotype-associated VAR_027156 commonName VAR_027156 VAR_027156 disease not phenotype-associated VAR_027157 commonName VAR_027157 VAR_027157 disease not phenotype-associated VAR_027158 commonName VAR_027158 VAR_027158 disease not phenotype-associated VAR_027159 commonName VAR_027159 VAR_027159 disease not phenotype-associated VAR_027160 commonName VAR_027160 VAR_027160 disease not phenotype-associated VAR_027161 commonName VAR_027161 VAR_027161 disease not phenotype-associated VAR_027162 commonName VAR_027162 VAR_027162 disease not phenotype-associated VAR_027163 commonName VAR_027163 VAR_027163 disease not phenotype-associated VAR_027164 commonName VAR_027164 VAR_027164 disease not phenotype-associated VAR_027165 commonName VAR_027165 VAR_027165 disease not phenotype-associated VAR_027167 commonName VAR_027167 VAR_027167 disease not phenotype-associated VAR_027168 commonName VAR_027168 VAR_027168 disease not phenotype-associated VAR_027169 commonName VAR_027169 VAR_027169 disease not phenotype-associated VAR_027170 commonName VAR_027170 VAR_027170 disease not phenotype-associated VAR_027171 commonName VAR_027171 VAR_027171 disease not phenotype-associated VAR_027172 commonName VAR_027172 VAR_027172 disease not phenotype-associated VAR_027173 commonName VAR_027173 VAR_027173 disease not phenotype-associated VAR_027174 commonName VAR_027174 VAR_027174 disease not phenotype-associated VAR_027175 commonName VAR_027175 VAR_027175 disease not phenotype-associated VAR_027176 commonName VAR_027176 VAR_027176 disease not phenotype-associated VAR_027177 commonName VAR_027177 VAR_027177 disease not phenotype-associated VAR_027178 commonName VAR_027178 VAR_027178 disease not phenotype-associated VAR_027179 commonName VAR_027179 VAR_027179 disease not phenotype-associated VAR_027180 commonName VAR_027180 VAR_027180 disease not phenotype-associated VAR_027181 commonName VAR_027181 VAR_027181 disease not phenotype-associated VAR_027182 commonName VAR_027182 VAR_027182 disease not phenotype-associated VAR_027198 commonName VAR_027198 VAR_027198 disease not phenotype-associated VAR_027199 commonName VAR_027199 VAR_027199 disease not phenotype-associated VAR_027200 commonName VAR_027200 VAR_027200 disease not phenotype-associated VAR_027201 commonName VAR_027201 VAR_027201 disease not phenotype-associated VAR_027202 commonName VAR_027202 VAR_027202 disease not phenotype-associated VAR_027203 commonName VAR_027203 VAR_027203 disease not phenotype-associated VAR_027204 commonName VAR_027204 VAR_027204 disease not phenotype-associated VAR_027205 commonName VAR_027205 VAR_027205 disease not phenotype-associated VAR_027206 commonName VAR_027206 VAR_027206 disease phenotype-associated VAR_027206 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_027207 commonName VAR_027207 VAR_027207 disease phenotype-associated VAR_027207 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_027208 commonName VAR_027208 VAR_027208 disease phenotype-associated VAR_027208 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_027209 commonName VAR_027209 VAR_027209 disease phenotype-associated VAR_027209 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_027210 commonName VAR_027210 VAR_027210 disease phenotype-associated VAR_027210 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_027211 commonName VAR_027211 VAR_027211 disease phenotype-associated VAR_027211 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_027212 commonName VAR_027212 VAR_027212 disease phenotype-associated VAR_027212 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_027213 commonName VAR_027213 VAR_027213 disease phenotype-associated VAR_027213 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_027214 commonName VAR_027214 VAR_027214 disease phenotype-associated VAR_027214 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_027215 commonName VAR_027215 VAR_027215 disease phenotype-associated VAR_027215 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_027216 commonName VAR_027216 VAR_027216 disease phenotype-associated VAR_027216 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_027217 commonName VAR_027217 VAR_027217 disease phenotype-associated VAR_027217 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_027218 commonName VAR_027218 VAR_027218 disease phenotype-associated VAR_027218 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_027219 commonName VAR_027219 VAR_027219 disease phenotype-associated VAR_027219 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_027220 commonName VAR_027220 VAR_027220 disease phenotype-associated VAR_027220 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_027221 commonName VAR_027221 VAR_027221 disease phenotype-associated VAR_027221 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_027222 commonName VAR_027222 VAR_027222 disease phenotype-associated VAR_027222 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_027223 commonName VAR_027223 VAR_027223 disease phenotype-associated VAR_027223 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_027224 commonName VAR_027224 VAR_027224 disease phenotype-associated VAR_027224 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_027225 commonName VAR_027225 VAR_027225 disease phenotype-associated VAR_027225 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_027226 commonName VAR_027226 VAR_027226 disease phenotype-associated VAR_027226 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_027227 commonName VAR_027227 VAR_027227 disease phenotype-associated VAR_027227 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_027228 commonName VAR_027228 VAR_027228 disease phenotype-associated VAR_027228 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_027229 commonName VAR_027229 VAR_027229 disease phenotype-associated VAR_027229 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] VAR_027231 commonName VAR_027231 VAR_027231 disease phenotype-associated VAR_027231 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] VAR_027232 commonName VAR_027232 VAR_027232 disease not phenotype-associated VAR_027233 commonName VAR_027233 VAR_027233 disease not phenotype-associated VAR_027234 commonName VAR_027234 VAR_027234 disease not phenotype-associated VAR_027235 commonName VAR_027235 VAR_027235 disease phenotype-associated VAR_027235 phenoCommon Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500] VAR_027236 commonName VAR_027236 VAR_027236 disease not phenotype-associated VAR_027237 commonName VAR_027237 VAR_027237 disease not phenotype-associated VAR_027238 commonName VAR_027238 VAR_027238 disease phenotype-associated VAR_027238 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] VAR_027239 commonName VAR_027239 VAR_027239 disease phenotype-associated VAR_027239 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] VAR_027240 commonName VAR_027240 VAR_027240 disease phenotype-associated VAR_027240 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_027241 commonName VAR_027241 VAR_027241 disease phenotype-associated VAR_027241 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_027242 commonName VAR_027242 VAR_027242 disease phenotype-associated VAR_027242 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] VAR_027242 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_027243 commonName VAR_027243 VAR_027243 disease not phenotype-associated VAR_027244 commonName VAR_027244 VAR_027244 disease phenotype-associated VAR_027244 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] VAR_027245 commonName VAR_027245 VAR_027245 disease not phenotype-associated VAR_027246 commonName VAR_027246 VAR_027251 commonName VAR_027251 VAR_027251 disease not phenotype-associated VAR_027252 commonName VAR_027252 VAR_027252 disease not phenotype-associated VAR_027253 commonName VAR_027253 VAR_027253 disease not phenotype-associated VAR_027254 commonName VAR_027254 VAR_027254 disease not phenotype-associated VAR_027255 commonName VAR_027255 VAR_027255 disease not phenotype-associated VAR_027256 commonName VAR_027256 VAR_027256 disease not phenotype-associated VAR_027257 commonName VAR_027257 VAR_027257 disease not phenotype-associated VAR_027258 commonName VAR_027258 VAR_027258 disease not phenotype-associated VAR_027259 commonName VAR_027259 VAR_027259 disease not phenotype-associated VAR_027260 commonName VAR_027260 VAR_027260 disease not phenotype-associated VAR_027261 commonName VAR_027261 VAR_027261 disease not phenotype-associated VAR_027262 commonName VAR_027262 VAR_027262 disease not phenotype-associated VAR_027263 commonName VAR_027263 VAR_027263 disease not phenotype-associated VAR_027264 commonName VAR_027264 VAR_027264 disease not phenotype-associated VAR_027265 commonName VAR_027265 VAR_027265 disease not phenotype-associated VAR_027266 commonName VAR_027266 VAR_027266 disease not phenotype-associated VAR_027267 commonName VAR_027267 VAR_027267 disease not phenotype-associated VAR_027268 commonName VAR_027268 VAR_027268 disease not phenotype-associated VAR_027269 commonName VAR_027269 VAR_027269 disease phenotype-associated VAR_027269 phenoCommon Spastic paraplegia autosomal dominant type 33 (SPG33) [MIM:610244] VAR_027270 commonName VAR_027270 VAR_027270 disease not phenotype-associated VAR_027271 commonName VAR_027271 VAR_027271 disease not phenotype-associated VAR_027272 commonName VAR_027272 VAR_027272 disease not phenotype-associated VAR_027273 commonName VAR_027273 VAR_027273 disease not phenotype-associated VAR_027274 commonName VAR_027274 VAR_027274 disease not phenotype-associated VAR_027276 commonName VAR_027276 VAR_027276 disease not phenotype-associated VAR_027277 commonName VAR_027277 VAR_027277 disease not phenotype-associated VAR_027278 commonName VAR_027278 VAR_027278 disease not phenotype-associated VAR_027279 commonName VAR_027279 VAR_027279 disease not phenotype-associated VAR_027280 commonName VAR_027280 VAR_027280 disease phenotype-associated VAR_027280 phenoCommon Aicardi-Goutieres syndrome type 2 (AGS2) [MIM:610181] VAR_027281 commonName VAR_027281 VAR_027281 disease phenotype-associated VAR_027281 phenoCommon Aicardi-Goutieres syndrome type 2 (AGS2) [MIM:610181] VAR_027282 commonName VAR_027282 VAR_027282 disease phenotype-associated VAR_027282 phenoCommon Aicardi-Goutieres syndrome type 2 (AGS2) [MIM:610181] VAR_027283 commonName VAR_027283 VAR_027283 disease phenotype-associated VAR_027283 phenoCommon Aicardi-Goutieres syndrome type 2 (AGS2) [MIM:610181] VAR_027284 commonName VAR_027284 VAR_027284 disease phenotype-associated VAR_027284 phenoCommon Aicardi-Goutieres syndrome type 2 (AGS2) [MIM:610181] VAR_027285 commonName VAR_027285 VAR_027285 disease phenotype-associated VAR_027285 phenoCommon Aicardi-Goutieres syndrome type 2 (AGS2) [MIM:610181] VAR_027286 commonName VAR_027286 VAR_027286 disease phenotype-associated VAR_027286 phenoCommon Aicardi-Goutieres syndrome type 2 (AGS2) [MIM:610181] VAR_027287 commonName VAR_027287 VAR_027287 disease phenotype-associated VAR_027287 phenoCommon Aicardi-Goutieres syndrome type 3 (AGS3) [MIM:610329] VAR_027288 commonName VAR_027288 VAR_027288 disease phenotype-associated VAR_027288 phenoCommon Aicardi-Goutieres syndrome type 3 (AGS3) [MIM:610329] VAR_027289 commonName VAR_027289 VAR_027289 disease not phenotype-associated VAR_027290 commonName VAR_027290 VAR_027290 disease not phenotype-associated VAR_027291 commonName VAR_027291 VAR_027291 disease not phenotype-associated VAR_027292 commonName VAR_027292 VAR_027292 disease not phenotype-associated VAR_027293 commonName VAR_027293 VAR_027293 disease not phenotype-associated VAR_027294 commonName VAR_027294 VAR_027294 disease not phenotype-associated VAR_027295 commonName VAR_027295 VAR_027295 disease not phenotype-associated VAR_027296 commonName VAR_027296 VAR_027296 disease not phenotype-associated VAR_027297 commonName VAR_027297 VAR_027297 disease not phenotype-associated VAR_027298 commonName VAR_027298 VAR_027298 disease not phenotype-associated VAR_027299 commonName VAR_027299 VAR_027299 disease not phenotype-associated VAR_027300 commonName VAR_027300 VAR_027300 disease not phenotype-associated VAR_027301 commonName VAR_027301 VAR_027301 disease phenotype-associated VAR_027301 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_027302 commonName VAR_027302 VAR_027302 disease phenotype-associated VAR_027302 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_027303 commonName VAR_027303 VAR_027303 disease phenotype-associated VAR_027303 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_027304 commonName VAR_027304 VAR_027304 disease phenotype-associated VAR_027304 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_027305 commonName VAR_027305 VAR_027305 disease phenotype-associated VAR_027305 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_027306 commonName VAR_027306 VAR_027306 disease phenotype-associated VAR_027306 phenoCommon Deafness autosomal dominant type 11 (DFNA11) [MIM:601317] VAR_027307 commonName VAR_027307 VAR_027307 disease phenotype-associated VAR_027307 phenoCommon Deafness autosomal dominant type 11 (DFNA11) [MIM:601317] VAR_027308 commonName VAR_027308 VAR_027308 disease phenotype-associated VAR_027308 phenoCommon Deafness autosomal dominant type 11 (DFNA11) [MIM:601317] VAR_027309 commonName VAR_027309 VAR_027309 disease phenotype-associated VAR_027309 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_027311 commonName VAR_027311 VAR_027312 commonName VAR_027312 VAR_027312 disease not phenotype-associated VAR_027313 commonName VAR_027313 VAR_027313 disease not phenotype-associated VAR_027314 commonName VAR_027314 VAR_027314 disease phenotype-associated VAR_027314 phenoCommon Usher syndrome type 1B (USH1B) [MIM:276900] VAR_027316 commonName VAR_027316 VAR_027316 disease not phenotype-associated VAR_027317 commonName VAR_027317 VAR_027317 disease phenotype-associated VAR_027317 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] VAR_027318 commonName VAR_027318 VAR_027318 disease phenotype-associated VAR_027318 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067] VAR_027319 commonName VAR_027319 VAR_027319 disease phenotype-associated VAR_027319 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] VAR_027320 commonName VAR_027320 VAR_027320 disease phenotype-associated VAR_027320 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] VAR_027321 commonName VAR_027321 VAR_027321 disease phenotype-associated VAR_027321 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067] VAR_027322 commonName VAR_027322 VAR_027322 disease phenotype-associated VAR_027322 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] VAR_027323 commonName VAR_027323 VAR_027323 disease phenotype-associated VAR_027323 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] VAR_027324 commonName VAR_027324 VAR_027324 disease phenotype-associated VAR_027324 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] VAR_027325 commonName VAR_027325 VAR_027325 disease phenotype-associated VAR_027325 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067] VAR_027326 commonName VAR_027326 VAR_027326 disease phenotype-associated VAR_027326 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] VAR_027327 commonName VAR_027327 VAR_027327 disease not phenotype-associated VAR_027328 commonName VAR_027328 VAR_027328 disease phenotype-associated VAR_027328 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] VAR_027329 commonName VAR_027329 VAR_027329 disease phenotype-associated VAR_027329 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] VAR_027330 commonName VAR_027330 VAR_027330 disease not phenotype-associated VAR_027331 commonName VAR_027331 VAR_027331 disease phenotype-associated VAR_027331 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] VAR_027332 commonName VAR_027332 VAR_027332 disease not phenotype-associated VAR_027333 commonName VAR_027333 VAR_027333 disease phenotype-associated VAR_027333 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] VAR_027334 commonName VAR_027334 VAR_027334 disease phenotype-associated VAR_027334 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067] VAR_027335 commonName VAR_027335 VAR_027335 disease not phenotype-associated VAR_027336 commonName VAR_027336 VAR_027336 disease phenotype-associated VAR_027336 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] VAR_027337 commonName VAR_027337 VAR_027337 disease not phenotype-associated VAR_027338 commonName VAR_027338 VAR_027338 disease not phenotype-associated VAR_027339 commonName VAR_027339 VAR_027339 disease phenotype-associated VAR_027339 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] VAR_027340 commonName VAR_027340 VAR_027340 disease phenotype-associated VAR_027340 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067] VAR_027341 commonName VAR_027341 VAR_027341 disease phenotype-associated VAR_027341 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] VAR_027342 commonName VAR_027342 VAR_027342 disease phenotype-associated VAR_027342 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067] VAR_027343 commonName VAR_027343 VAR_027343 disease phenotype-associated VAR_027343 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067] VAR_027344 commonName VAR_027344 VAR_027344 disease not phenotype-associated VAR_027345 commonName VAR_027345 VAR_027345 disease not phenotype-associated VAR_027346 commonName VAR_027346 VAR_027346 disease not phenotype-associated VAR_027347 commonName VAR_027347 VAR_027347 disease phenotype-associated VAR_027347 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067] VAR_027348 commonName VAR_027348 VAR_027348 disease not phenotype-associated VAR_027349 commonName VAR_027349 VAR_027349 disease not phenotype-associated VAR_027350 commonName VAR_027350 VAR_027350 disease phenotype-associated VAR_027350 phenoCommon Parkinson disease type 13 (PARK13) [MIM:610297] VAR_027351 commonName VAR_027351 VAR_027351 disease phenotype-associated VAR_027351 phenoCommon Spastic paraplegia autosomal dominant type 31 (SPG31) [MIM:610250] VAR_027352 commonName VAR_027352 VAR_027352 disease not phenotype-associated VAR_027353 commonName VAR_027353 VAR_027353 disease not phenotype-associated VAR_027354 commonName VAR_027354 VAR_027354 disease not phenotype-associated VAR_027355 commonName VAR_027355 VAR_027355 disease not phenotype-associated VAR_027356 commonName VAR_027356 VAR_027356 disease not phenotype-associated VAR_027357 commonName VAR_027357 VAR_027357 disease not phenotype-associated VAR_027358 commonName VAR_027358 VAR_027358 disease not phenotype-associated VAR_027359 commonName VAR_027359 VAR_027359 disease not phenotype-associated VAR_027360 commonName VAR_027360 VAR_027360 disease not phenotype-associated VAR_027361 commonName VAR_027361 VAR_027361 disease not phenotype-associated VAR_027362 commonName VAR_027362 VAR_027362 disease not phenotype-associated VAR_027363 commonName VAR_027363 VAR_027363 disease not phenotype-associated VAR_027364 commonName VAR_027364 VAR_027364 disease not phenotype-associated VAR_027365 commonName VAR_027365 VAR_027365 disease not phenotype-associated VAR_027366 commonName VAR_027366 VAR_027366 disease not phenotype-associated VAR_027367 commonName VAR_027367 VAR_027367 disease not phenotype-associated VAR_027368 commonName VAR_027368 VAR_027368 disease not phenotype-associated VAR_027371 commonName VAR_027371 VAR_027371 disease phenotype-associated VAR_027371 phenoCommon Familial erythrocytosis type 3 (ECYT3) [MIM:609820] VAR_027374 commonName VAR_027374 VAR_027374 disease not phenotype-associated VAR_027375 commonName VAR_027375 VAR_027375 disease not phenotype-associated VAR_027376 commonName VAR_027376 VAR_027376 disease phenotype-associated VAR_027376 phenoCommon Hereditary angioedema (HAE) [MIM:106100] VAR_027377 commonName VAR_027377 VAR_027377 disease phenotype-associated VAR_027377 phenoCommon Aicardi-Goutieres syndrome type 4 (AGS4) [MIM:610333] VAR_027378 commonName VAR_027378 VAR_027378 disease not phenotype-associated VAR_027379 commonName VAR_027379 VAR_027379 disease phenotype-associated VAR_027379 phenoCommon Hereditary angioedema (HAE) [MIM:106100] VAR_027380 commonName VAR_027380 VAR_027380 disease phenotype-associated VAR_027380 phenoCommon Hereditary angioedema (HAE) [MIM:106100] VAR_027381 commonName VAR_027381 VAR_027381 disease phenotype-associated VAR_027381 phenoCommon Hereditary angioedema (HAE) [MIM:106100] VAR_027385 commonName VAR_027385 VAR_027385 disease not phenotype-associated VAR_027386 commonName VAR_027386 VAR_027386 disease not phenotype-associated VAR_027387 commonName VAR_027387 VAR_027387 disease phenotype-associated VAR_027387 phenoCommon Deafness autosomal recessive type 59 (DFNB59) [MIM:610220] VAR_027388 commonName VAR_027388 VAR_027388 disease phenotype-associated VAR_027388 phenoCommon Deafness autosomal recessive type 59 (DFNB59) [MIM:610220] VAR_027389 commonName VAR_027389 VAR_027389 disease not phenotype-associated VAR_027390 commonName VAR_027390 VAR_027390 disease not phenotype-associated VAR_027392 commonName VAR_027392 VAR_027392 disease not phenotype-associated VAR_027393 commonName VAR_027393 VAR_027393 disease not phenotype-associated VAR_027394 commonName VAR_027394 VAR_027394 disease not phenotype-associated VAR_027395 commonName VAR_027395 VAR_027396 commonName VAR_027396 VAR_027396 disease not phenotype-associated VAR_027397 commonName VAR_027397 VAR_027397 disease not phenotype-associated VAR_027398 commonName VAR_027398 VAR_027398 disease not phenotype-associated VAR_027399 commonName VAR_027399 VAR_027399 disease not phenotype-associated VAR_027401 commonName VAR_027401 VAR_027401 disease not phenotype-associated VAR_027402 commonName VAR_027402 VAR_027402 disease not phenotype-associated VAR_027403 commonName VAR_027403 VAR_027403 disease not phenotype-associated VAR_027404 commonName VAR_027404 VAR_027404 disease not phenotype-associated VAR_027405 commonName VAR_027405 VAR_027405 disease not phenotype-associated VAR_027406 commonName VAR_027406 VAR_027406 disease not phenotype-associated VAR_027407 commonName VAR_027407 VAR_027407 disease not phenotype-associated VAR_027408 commonName VAR_027408 VAR_027408 disease not phenotype-associated VAR_027409 commonName VAR_027409 VAR_027409 disease not phenotype-associated VAR_027410 commonName VAR_027410 VAR_027410 disease not phenotype-associated VAR_027411 commonName VAR_027411 VAR_027411 disease not phenotype-associated VAR_027412 commonName VAR_027412 VAR_027412 disease not phenotype-associated VAR_027413 commonName VAR_027413 VAR_027413 disease not phenotype-associated VAR_027414 commonName VAR_027414 VAR_027414 disease not phenotype-associated VAR_027416 commonName VAR_027416 VAR_027416 disease not phenotype-associated VAR_027417 commonName VAR_027417 VAR_027417 disease not phenotype-associated VAR_027418 commonName VAR_027418 VAR_027418 disease not phenotype-associated VAR_027419 commonName VAR_027419 VAR_027419 disease not phenotype-associated VAR_027420 commonName VAR_027420 VAR_027420 disease not phenotype-associated VAR_027421 commonName VAR_027421 VAR_027421 disease not phenotype-associated VAR_027422 commonName VAR_027422 VAR_027422 disease not phenotype-associated VAR_027423 commonName VAR_027423 VAR_027423 disease not phenotype-associated VAR_027424 commonName VAR_027424 VAR_027424 disease not phenotype-associated VAR_027425 commonName VAR_027425 VAR_027425 disease not phenotype-associated VAR_027426 commonName VAR_027426 VAR_027426 disease not phenotype-associated VAR_027427 commonName VAR_027427 VAR_027427 disease not phenotype-associated VAR_027428 commonName VAR_027428 VAR_027428 disease not phenotype-associated VAR_027429 commonName VAR_027429 VAR_027429 disease not phenotype-associated VAR_027430 commonName VAR_027430 VAR_027430 disease not phenotype-associated VAR_027431 commonName VAR_027431 VAR_027431 disease not phenotype-associated VAR_027432 commonName VAR_027432 VAR_027432 disease not phenotype-associated VAR_027433 commonName VAR_027433 VAR_027433 disease not phenotype-associated VAR_027434 commonName VAR_027434 VAR_027434 disease not phenotype-associated VAR_027435 commonName VAR_027435 VAR_027435 disease not phenotype-associated VAR_027436 commonName VAR_027436 VAR_027436 disease not phenotype-associated VAR_027437 commonName VAR_027437 VAR_027437 disease not phenotype-associated VAR_027438 commonName VAR_027438 VAR_027438 disease not phenotype-associated VAR_027439 commonName VAR_027439 VAR_027439 disease phenotype-associated VAR_027439 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_027440 commonName VAR_027440 VAR_027440 disease not phenotype-associated VAR_027441 commonName VAR_027441 VAR_027441 disease not phenotype-associated VAR_027442 commonName VAR_027442 VAR_027442 disease not phenotype-associated VAR_027443 commonName VAR_027443 VAR_027443 disease not phenotype-associated VAR_027444 commonName VAR_027444 VAR_027444 disease not phenotype-associated VAR_027445 commonName VAR_027445 VAR_027445 disease not phenotype-associated VAR_027446 commonName VAR_027446 VAR_027446 disease not phenotype-associated VAR_027450 commonName VAR_027450 VAR_027450 disease phenotype-associated VAR_027450 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_027451 commonName VAR_027451 VAR_027451 disease phenotype-associated VAR_027451 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_027452 commonName VAR_027452 VAR_027452 disease phenotype-associated VAR_027452 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_027453 commonName VAR_027453 VAR_027453 disease phenotype-associated VAR_027453 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_027454 commonName VAR_027454 VAR_027454 disease phenotype-associated VAR_027454 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_027455 commonName VAR_027455 VAR_027455 disease phenotype-associated VAR_027455 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_027456 commonName VAR_027456 VAR_027456 disease phenotype-associated VAR_027456 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_027457 commonName VAR_027457 VAR_027457 disease phenotype-associated VAR_027457 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_027458 commonName VAR_027458 VAR_027458 disease phenotype-associated VAR_027458 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_027459 commonName VAR_027459 VAR_027459 disease phenotype-associated VAR_027459 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_027460 commonName VAR_027460 VAR_027460 disease phenotype-associated VAR_027460 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_027461 commonName VAR_027461 VAR_027461 disease phenotype-associated VAR_027461 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_027463 commonName VAR_027463 VAR_027463 disease phenotype-associated VAR_027463 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_027464 commonName VAR_027464 VAR_027464 disease phenotype-associated VAR_027464 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_027465 commonName VAR_027465 VAR_027465 disease phenotype-associated VAR_027465 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_027466 commonName VAR_027466 VAR_027466 disease phenotype-associated VAR_027466 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_027467 commonName VAR_027467 VAR_027467 disease phenotype-associated VAR_027467 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_027468 commonName VAR_027468 VAR_027468 disease phenotype-associated VAR_027468 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_027469 commonName VAR_027469 VAR_027469 disease phenotype-associated VAR_027469 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_027470 commonName VAR_027470 VAR_027470 disease phenotype-associated VAR_027470 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_027471 commonName VAR_027471 VAR_027471 disease phenotype-associated VAR_027471 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_027472 commonName VAR_027472 VAR_027472 disease phenotype-associated VAR_027472 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_027473 commonName VAR_027473 VAR_027473 disease phenotype-associated VAR_027473 phenoCommon Antithrombin III deficiency (AT3D) [MIM:613118] VAR_027474 commonName VAR_027474 VAR_027474 disease not phenotype-associated VAR_027475 commonName VAR_027475 VAR_027475 disease not phenotype-associated VAR_027477 commonName VAR_027477 VAR_027477 disease not phenotype-associated VAR_027478 commonName VAR_027478 VAR_027478 disease not phenotype-associated VAR_027479 commonName VAR_027479 VAR_027479 disease not phenotype-associated VAR_027480 commonName VAR_027480 VAR_027480 disease not phenotype-associated VAR_027481 commonName VAR_027481 VAR_027481 disease not phenotype-associated VAR_027482 commonName VAR_027482 VAR_027482 disease not phenotype-associated VAR_027483 commonName VAR_027483 VAR_027483 disease not phenotype-associated VAR_027484 commonName VAR_027484 VAR_027484 disease not phenotype-associated VAR_027487 commonName VAR_027487 VAR_027487 disease not phenotype-associated VAR_027488 commonName VAR_027488 VAR_027488 disease not phenotype-associated VAR_027489 commonName VAR_027489 VAR_027489 disease not phenotype-associated VAR_027490 commonName VAR_027490 VAR_027490 disease not phenotype-associated VAR_027491 commonName VAR_027491 VAR_027491 disease not phenotype-associated VAR_027496 commonName VAR_027496 VAR_027496 disease not phenotype-associated VAR_027497 commonName VAR_027497 VAR_027497 disease not phenotype-associated VAR_027498 commonName VAR_027498 VAR_027498 disease not phenotype-associated VAR_027499 commonName VAR_027499 VAR_027499 disease not phenotype-associated VAR_027501 commonName VAR_027501 VAR_027501 disease not phenotype-associated VAR_027502 commonName VAR_027502 VAR_027502 disease not phenotype-associated VAR_027503 commonName VAR_027503 VAR_027503 disease not phenotype-associated VAR_027505 commonName VAR_027505 VAR_027505 disease not phenotype-associated VAR_027506 commonName VAR_027506 VAR_027506 disease not phenotype-associated VAR_027507 commonName VAR_027507 VAR_027507 disease not phenotype-associated VAR_027508 commonName VAR_027508 VAR_027509 commonName VAR_027509 VAR_027509 disease phenotype-associated VAR_027509 phenoCommon Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] VAR_027510 commonName VAR_027510 VAR_027510 disease not phenotype-associated VAR_027511 commonName VAR_027511 VAR_027511 disease phenotype-associated VAR_027511 phenoCommon Mucolipidosis type II (MLII) [MIM:252500] VAR_027512 commonName VAR_027512 VAR_027512 disease phenotype-associated VAR_027512 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] VAR_027513 commonName VAR_027513 VAR_027513 disease phenotype-associated VAR_027513 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] VAR_027514 commonName VAR_027514 VAR_027514 disease phenotype-associated VAR_027514 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] VAR_027515 commonName VAR_027515 VAR_027515 disease not phenotype-associated VAR_027516 commonName VAR_027516 VAR_027516 disease not phenotype-associated VAR_027528 commonName VAR_027528 VAR_027528 disease phenotype-associated VAR_027528 phenoCommon Xanthinuria type 2 (XU2) [MIM:603592] VAR_027529 commonName VAR_027529 VAR_027529 disease not phenotype-associated VAR_027530 commonName VAR_027530 VAR_027530 disease not phenotype-associated VAR_027531 commonName VAR_027531 VAR_027531 disease not phenotype-associated VAR_027532 commonName VAR_027532 VAR_027532 disease not phenotype-associated VAR_027533 commonName VAR_027533 VAR_027533 disease phenotype-associated VAR_027533 phenoCommon Xanthinuria type 2 (XU2) [MIM:603592] VAR_027534 commonName VAR_027534 VAR_027534 disease not phenotype-associated VAR_027535 commonName VAR_027535 VAR_027535 disease not phenotype-associated VAR_027536 commonName VAR_027536 VAR_027536 disease not phenotype-associated VAR_027537 commonName VAR_027537 VAR_027537 disease not phenotype-associated VAR_027538 commonName VAR_027538 VAR_027538 disease not phenotype-associated VAR_027540 commonName VAR_027540 VAR_027540 disease not phenotype-associated VAR_027541 commonName VAR_027541 VAR_027541 disease not phenotype-associated VAR_027542 commonName VAR_027542 VAR_027542 disease not phenotype-associated VAR_027543 commonName VAR_027543 VAR_027543 disease not phenotype-associated VAR_027544 commonName VAR_027544 VAR_027544 disease phenotype-associated VAR_027544 phenoCommon Familial limb-girdle myasthenia autosomal recessive (LGM) [MIM:254300] VAR_027545 commonName VAR_027545 VAR_027545 disease not phenotype-associated VAR_027546 commonName VAR_027546 VAR_027546 disease not phenotype-associated VAR_027547 commonName VAR_027547 VAR_027547 disease not phenotype-associated VAR_027548 commonName VAR_027548 VAR_027548 disease not phenotype-associated VAR_027549 commonName VAR_027549 VAR_027549 disease not phenotype-associated VAR_027550 commonName VAR_027550 VAR_027550 disease not phenotype-associated VAR_027551 commonName VAR_027551 VAR_027551 disease not phenotype-associated VAR_027552 commonName VAR_027552 VAR_027552 disease not phenotype-associated VAR_027553 commonName VAR_027553 VAR_027553 disease not phenotype-associated VAR_027554 commonName VAR_027554 VAR_027554 disease not phenotype-associated VAR_027555 commonName VAR_027555 VAR_027555 disease not phenotype-associated VAR_027556 commonName VAR_027556 VAR_027556 disease not phenotype-associated VAR_027557 commonName VAR_027557 VAR_027557 disease not phenotype-associated VAR_027558 commonName VAR_027558 VAR_027558 disease not phenotype-associated VAR_027559 commonName VAR_027559 VAR_027559 disease not phenotype-associated VAR_027560 commonName VAR_027560 VAR_027560 disease not phenotype-associated VAR_027561 commonName VAR_027561 VAR_027561 disease not phenotype-associated VAR_027562 commonName VAR_027562 VAR_027562 disease not phenotype-associated VAR_027563 commonName VAR_027563 VAR_027563 disease not phenotype-associated VAR_027564 commonName VAR_027564 VAR_027564 disease not phenotype-associated VAR_027565 commonName VAR_027565 VAR_027565 disease not phenotype-associated VAR_027566 commonName VAR_027566 VAR_027566 disease not phenotype-associated VAR_027567 commonName VAR_027567 VAR_027567 disease not phenotype-associated VAR_027568 commonName VAR_027568 VAR_027568 disease not phenotype-associated VAR_027569 commonName VAR_027569 VAR_027569 disease not phenotype-associated VAR_027570 commonName VAR_027570 VAR_027570 disease not phenotype-associated VAR_027571 commonName VAR_027571 VAR_027571 disease not phenotype-associated VAR_027572 commonName VAR_027572 VAR_027572 disease not phenotype-associated VAR_027573 commonName VAR_027573 VAR_027573 disease not phenotype-associated VAR_027574 commonName VAR_027574 VAR_027574 disease not phenotype-associated VAR_027576 commonName VAR_027576 VAR_027576 disease not phenotype-associated VAR_027577 commonName VAR_027577 VAR_027577 disease not phenotype-associated VAR_027578 commonName VAR_027578 VAR_027578 disease not phenotype-associated VAR_027579 commonName VAR_027579 VAR_027579 disease not phenotype-associated VAR_027580 commonName VAR_027580 VAR_027580 disease not phenotype-associated VAR_027581 commonName VAR_027581 VAR_027581 disease not phenotype-associated VAR_027582 commonName VAR_027582 VAR_027582 disease not phenotype-associated VAR_027583 commonName VAR_027583 VAR_027583 disease not phenotype-associated VAR_027584 commonName VAR_027584 VAR_027584 disease not phenotype-associated VAR_027585 commonName VAR_027585 VAR_027585 disease not phenotype-associated VAR_027586 commonName VAR_027586 VAR_027586 disease not phenotype-associated VAR_027587 commonName VAR_027587 VAR_027587 disease not phenotype-associated VAR_027588 commonName VAR_027588 VAR_027588 disease not phenotype-associated VAR_027589 commonName VAR_027589 VAR_027589 disease not phenotype-associated VAR_027590 commonName VAR_027590 VAR_027590 disease not phenotype-associated VAR_027591 commonName VAR_027591 VAR_027591 disease not phenotype-associated VAR_027592 commonName VAR_027592 VAR_027592 disease not phenotype-associated VAR_027593 commonName VAR_027593 VAR_027593 disease not phenotype-associated VAR_027594 commonName VAR_027594 VAR_027594 disease not phenotype-associated VAR_027595 commonName VAR_027595 VAR_027595 disease not phenotype-associated VAR_027596 commonName VAR_027596 VAR_027596 disease not phenotype-associated VAR_027597 commonName VAR_027597 VAR_027597 disease not phenotype-associated VAR_027598 commonName VAR_027598 VAR_027598 disease not phenotype-associated VAR_027599 commonName VAR_027599 VAR_027599 disease not phenotype-associated VAR_027600 commonName VAR_027600 VAR_027600 disease not phenotype-associated VAR_027601 commonName VAR_027601 VAR_027601 disease not phenotype-associated VAR_027602 commonName VAR_027602 VAR_027602 disease not phenotype-associated VAR_027603 commonName VAR_027603 VAR_027603 disease not phenotype-associated VAR_027604 commonName VAR_027604 VAR_027604 disease not phenotype-associated VAR_027607 commonName VAR_027607 VAR_027607 disease not phenotype-associated VAR_027608 commonName VAR_027608 VAR_027608 disease not phenotype-associated VAR_027609 commonName VAR_027609 VAR_027609 disease not phenotype-associated VAR_027610 commonName VAR_027610 VAR_027610 disease not phenotype-associated VAR_027612 commonName VAR_027612 VAR_027612 disease not phenotype-associated VAR_027613 commonName VAR_027613 VAR_027613 disease not phenotype-associated VAR_027614 commonName VAR_027614 VAR_027614 disease not phenotype-associated VAR_027615 commonName VAR_027615 VAR_027615 disease not phenotype-associated VAR_027616 commonName VAR_027616 VAR_027616 disease not phenotype-associated VAR_027617 commonName VAR_027617 VAR_027617 disease not phenotype-associated VAR_027618 commonName VAR_027618 VAR_027618 disease not phenotype-associated VAR_027619 commonName VAR_027619 VAR_027619 disease not phenotype-associated VAR_027620 commonName VAR_027620 VAR_027620 disease not phenotype-associated VAR_027621 commonName VAR_027621 VAR_027621 disease not phenotype-associated VAR_027622 commonName VAR_027622 VAR_027622 disease not phenotype-associated VAR_027623 commonName VAR_027623 VAR_027623 disease not phenotype-associated VAR_027624 commonName VAR_027624 VAR_027624 disease not phenotype-associated VAR_027625 commonName VAR_027625 VAR_027625 disease not phenotype-associated VAR_027626 commonName VAR_027626 VAR_027626 disease not phenotype-associated VAR_027627 commonName VAR_027627 VAR_027627 disease not phenotype-associated VAR_027628 commonName VAR_027628 VAR_027628 disease not phenotype-associated VAR_027629 commonName VAR_027629 VAR_027629 disease not phenotype-associated VAR_027630 commonName VAR_027630 VAR_027630 disease not phenotype-associated VAR_027631 commonName VAR_027631 VAR_027631 disease not phenotype-associated VAR_027632 commonName VAR_027632 VAR_027632 disease phenotype-associated VAR_027632 phenoCommon Cone dystrophy retinal type 3B (RCD3B) [MIM:610356] VAR_027633 commonName VAR_027633 VAR_027633 disease phenotype-associated VAR_027633 phenoCommon Cone dystrophy retinal type 3B (RCD3B) [MIM:610356] VAR_027634 commonName VAR_027634 VAR_027634 disease phenotype-associated VAR_027634 phenoCommon Cone dystrophy retinal type 3B (RCD3B) [MIM:610356] VAR_027635 commonName VAR_027635 VAR_027635 disease phenotype-associated VAR_027635 phenoCommon Cone dystrophy retinal type 3B (RCD3B) [MIM:610356] VAR_027637 commonName VAR_027637 VAR_027637 disease phenotype-associated VAR_027637 phenoCommon Cone dystrophy retinal type 3B (RCD3B) [MIM:610356] VAR_027638 commonName VAR_027638 VAR_027638 disease not phenotype-associated VAR_027639 commonName VAR_027639 VAR_027639 disease not phenotype-associated VAR_027640 commonName VAR_027640 VAR_027640 disease not phenotype-associated VAR_027641 commonName VAR_027641 VAR_027641 disease phenotype-associated VAR_027641 phenoCommon Nocturnal frontal lobe epilepsy type 4 (ENFL4) [MIM:610353] VAR_027642 commonName VAR_027642 VAR_027642 disease not phenotype-associated VAR_027643 commonName VAR_027643 VAR_027643 disease phenotype-associated VAR_027643 phenoCommon Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900] VAR_027644 commonName VAR_027644 VAR_027644 disease phenotype-associated VAR_027644 phenoCommon Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900] VAR_027645 commonName VAR_027645 VAR_027645 disease phenotype-associated VAR_027645 phenoCommon Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900] VAR_027646 commonName VAR_027646 VAR_027646 disease phenotype-associated VAR_027646 phenoCommon Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900] VAR_027647 commonName VAR_027647 VAR_027647 disease not phenotype-associated VAR_027648 commonName VAR_027648 VAR_027648 disease not phenotype-associated VAR_027649 commonName VAR_027649 VAR_027649 disease not phenotype-associated VAR_027650 commonName VAR_027650 VAR_027650 disease not phenotype-associated VAR_027651 commonName VAR_027651 VAR_027651 disease not phenotype-associated VAR_027652 commonName VAR_027652 VAR_027652 disease not phenotype-associated VAR_027653 commonName VAR_027653 VAR_027653 disease not phenotype-associated VAR_027654 commonName VAR_027654 VAR_027654 disease not phenotype-associated VAR_027655 commonName VAR_027655 VAR_027655 disease not phenotype-associated VAR_027656 commonName VAR_027656 VAR_027656 disease not phenotype-associated VAR_027657 commonName VAR_027657 VAR_027657 disease not phenotype-associated VAR_027658 commonName VAR_027658 VAR_027658 disease not phenotype-associated VAR_027659 commonName VAR_027659 VAR_027659 disease not phenotype-associated VAR_027660 commonName VAR_027660 VAR_027660 disease not phenotype-associated VAR_027661 commonName VAR_027661 VAR_027661 disease not phenotype-associated VAR_027663 commonName VAR_027663 VAR_027663 disease not phenotype-associated VAR_027664 commonName VAR_027664 VAR_027664 disease not phenotype-associated VAR_027665 commonName VAR_027665 VAR_027665 disease not phenotype-associated VAR_027666 commonName VAR_027666 VAR_027666 disease not phenotype-associated VAR_027667 commonName VAR_027667 VAR_027667 disease not phenotype-associated VAR_027668 commonName VAR_027668 VAR_027668 disease not phenotype-associated VAR_027669 commonName VAR_027669 VAR_027669 disease not phenotype-associated VAR_027670 commonName VAR_027670 VAR_027670 disease not phenotype-associated VAR_027671 commonName VAR_027671 VAR_027671 disease not phenotype-associated VAR_027672 commonName VAR_027672 VAR_027672 disease not phenotype-associated VAR_027673 commonName VAR_027673 VAR_027673 disease not phenotype-associated VAR_027674 commonName VAR_027674 VAR_027674 disease not phenotype-associated VAR_027675 commonName VAR_027675 VAR_027675 disease not phenotype-associated VAR_027676 commonName VAR_027676 VAR_027676 disease not phenotype-associated VAR_027677 commonName VAR_027677 VAR_027677 disease not phenotype-associated VAR_027678 commonName VAR_027678 VAR_027678 disease not phenotype-associated VAR_027679 commonName VAR_027679 VAR_027679 disease not phenotype-associated VAR_027680 commonName VAR_027680 VAR_027680 disease not phenotype-associated VAR_027681 commonName VAR_027681 VAR_027681 disease not phenotype-associated VAR_027682 commonName VAR_027682 VAR_027682 disease not phenotype-associated VAR_027683 commonName VAR_027683 VAR_027683 disease not phenotype-associated VAR_027684 commonName VAR_027684 VAR_027684 disease not phenotype-associated VAR_027685 commonName VAR_027685 VAR_027685 disease not phenotype-associated VAR_027686 commonName VAR_027686 VAR_027686 disease not phenotype-associated VAR_027687 commonName VAR_027687 VAR_027687 disease not phenotype-associated VAR_027688 commonName VAR_027688 VAR_027688 disease not phenotype-associated VAR_027689 commonName VAR_027689 VAR_027689 disease not phenotype-associated VAR_027690 commonName VAR_027690 VAR_027690 disease not phenotype-associated VAR_027691 commonName VAR_027691 VAR_027691 disease not phenotype-associated VAR_027692 commonName VAR_027692 VAR_027692 disease not phenotype-associated VAR_027693 commonName VAR_027693 VAR_027693 disease not phenotype-associated VAR_027694 commonName VAR_027694 VAR_027694 disease not phenotype-associated VAR_027695 commonName VAR_027695 VAR_027695 disease not phenotype-associated VAR_027696 commonName VAR_027696 VAR_027696 disease not phenotype-associated VAR_027697 commonName VAR_027697 VAR_027697 disease not phenotype-associated VAR_027698 commonName VAR_027698 VAR_027698 disease not phenotype-associated VAR_027699 commonName VAR_027699 VAR_027699 disease not phenotype-associated VAR_027700 commonName VAR_027700 VAR_027700 disease not phenotype-associated VAR_027701 commonName VAR_027701 VAR_027701 disease not phenotype-associated VAR_027702 commonName VAR_027702 VAR_027702 disease not phenotype-associated VAR_027703 commonName VAR_027703 VAR_027703 disease not phenotype-associated VAR_027704 commonName VAR_027704 VAR_027704 disease not phenotype-associated VAR_027705 commonName VAR_027705 VAR_027705 disease not phenotype-associated VAR_027706 commonName VAR_027706 VAR_027706 disease not phenotype-associated VAR_027707 commonName VAR_027707 VAR_027707 disease not phenotype-associated VAR_027708 commonName VAR_027708 VAR_027708 disease not phenotype-associated VAR_027709 commonName VAR_027709 VAR_027709 disease not phenotype-associated VAR_027710 commonName VAR_027710 VAR_027710 disease not phenotype-associated VAR_027711 commonName VAR_027711 VAR_027711 disease not phenotype-associated VAR_027712 commonName VAR_027712 VAR_027712 disease not phenotype-associated VAR_027713 commonName VAR_027713 VAR_027713 disease not phenotype-associated VAR_027714 commonName VAR_027714 VAR_027714 disease not phenotype-associated VAR_027716 commonName VAR_027716 VAR_027716 disease not phenotype-associated VAR_027717 commonName VAR_027717 VAR_027717 disease not phenotype-associated VAR_027718 commonName VAR_027718 VAR_027718 disease phenotype-associated VAR_027718 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_027719 commonName VAR_027719 VAR_027719 disease phenotype-associated VAR_027719 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] VAR_027721 commonName VAR_027721 VAR_027721 disease phenotype-associated VAR_027721 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] VAR_027722 commonName VAR_027722 VAR_027722 disease phenotype-associated VAR_027722 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] VAR_027723 commonName VAR_027723 VAR_027723 disease phenotype-associated VAR_027723 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] VAR_027724 commonName VAR_027724 VAR_027724 disease phenotype-associated VAR_027724 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_027725 commonName VAR_027725 VAR_027725 disease phenotype-associated VAR_027725 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_027726 commonName VAR_027726 VAR_027726 disease phenotype-associated VAR_027726 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] VAR_027727 commonName VAR_027727 VAR_027727 disease not phenotype-associated VAR_027728 commonName VAR_027728 VAR_027728 disease not phenotype-associated VAR_027729 commonName VAR_027729 VAR_027729 disease not phenotype-associated VAR_027730 commonName VAR_027730 VAR_027730 disease not phenotype-associated VAR_027731 commonName VAR_027731 VAR_027731 disease not phenotype-associated VAR_027732 commonName VAR_027732 VAR_027732 disease not phenotype-associated VAR_027734 commonName VAR_027734 VAR_027734 disease not phenotype-associated VAR_027735 commonName VAR_027735 VAR_027735 disease not phenotype-associated VAR_027736 commonName VAR_027736 VAR_027736 disease not phenotype-associated VAR_027737 commonName VAR_027737 VAR_027737 disease not phenotype-associated VAR_027738 commonName VAR_027738 VAR_027738 disease not phenotype-associated VAR_027739 commonName VAR_027739 VAR_027739 disease not phenotype-associated VAR_027740 commonName VAR_027740 VAR_027740 disease not phenotype-associated VAR_027741 commonName VAR_027741 VAR_027741 disease not phenotype-associated VAR_027742 commonName VAR_027742 VAR_027742 disease not phenotype-associated VAR_027743 commonName VAR_027743 VAR_027743 disease not phenotype-associated VAR_027744 commonName VAR_027744 VAR_027744 disease not phenotype-associated VAR_027745 commonName VAR_027745 VAR_027745 disease not phenotype-associated VAR_027746 commonName VAR_027746 VAR_027746 disease not phenotype-associated VAR_027747 commonName VAR_027747 VAR_027747 disease not phenotype-associated VAR_027748 commonName VAR_027748 VAR_027748 disease not phenotype-associated VAR_027749 commonName VAR_027749 VAR_027749 disease not phenotype-associated VAR_027750 commonName VAR_027750 VAR_027750 disease not phenotype-associated VAR_027751 commonName VAR_027751 VAR_027751 disease not phenotype-associated VAR_027752 commonName VAR_027752 VAR_027752 disease not phenotype-associated VAR_027753 commonName VAR_027753 VAR_027753 disease not phenotype-associated VAR_027754 commonName VAR_027754 VAR_027754 disease not phenotype-associated VAR_027755 commonName VAR_027755 VAR_027755 disease not phenotype-associated VAR_027756 commonName VAR_027756 VAR_027756 disease not phenotype-associated VAR_027757 commonName VAR_027757 VAR_027757 disease not phenotype-associated VAR_027758 commonName VAR_027758 VAR_027758 disease not phenotype-associated VAR_027759 commonName VAR_027759 VAR_027759 disease not phenotype-associated VAR_027760 commonName VAR_027760 VAR_027760 disease not phenotype-associated VAR_027761 commonName VAR_027761 VAR_027761 disease not phenotype-associated VAR_027762 commonName VAR_027762 VAR_027762 disease not phenotype-associated VAR_027763 commonName VAR_027763 VAR_027763 disease not phenotype-associated VAR_027764 commonName VAR_027764 VAR_027764 disease not phenotype-associated VAR_027765 commonName VAR_027765 VAR_027765 disease not phenotype-associated VAR_027766 commonName VAR_027766 VAR_027766 disease not phenotype-associated VAR_027767 commonName VAR_027767 VAR_027767 disease not phenotype-associated VAR_027768 commonName VAR_027768 VAR_027768 disease not phenotype-associated VAR_027769 commonName VAR_027769 VAR_027769 disease not phenotype-associated VAR_027770 commonName VAR_027770 VAR_027770 disease not phenotype-associated VAR_027771 commonName VAR_027771 VAR_027771 disease not phenotype-associated VAR_027772 commonName VAR_027772 VAR_027772 disease not phenotype-associated VAR_027773 commonName VAR_027773 VAR_027773 disease not phenotype-associated VAR_027774 commonName VAR_027774 VAR_027774 disease not phenotype-associated VAR_027775 commonName VAR_027775 VAR_027775 disease not phenotype-associated VAR_027776 commonName VAR_027776 VAR_027776 disease not phenotype-associated VAR_027777 commonName VAR_027777 VAR_027777 disease not phenotype-associated VAR_027778 commonName VAR_027778 VAR_027778 disease not phenotype-associated VAR_027779 commonName VAR_027779 VAR_027779 disease not phenotype-associated VAR_027780 commonName VAR_027780 VAR_027780 disease not phenotype-associated VAR_027781 commonName VAR_027781 VAR_027781 disease not phenotype-associated VAR_027782 commonName VAR_027782 VAR_027782 disease not phenotype-associated VAR_027783 commonName VAR_027783 VAR_027783 disease not phenotype-associated VAR_027784 commonName VAR_027784 VAR_027784 disease not phenotype-associated VAR_027785 commonName VAR_027785 VAR_027785 disease not phenotype-associated VAR_027786 commonName VAR_027786 VAR_027786 disease not phenotype-associated VAR_027787 commonName VAR_027787 VAR_027787 disease not phenotype-associated VAR_027788 commonName VAR_027788 VAR_027788 disease not phenotype-associated VAR_027789 commonName VAR_027789 VAR_027789 disease not phenotype-associated VAR_027790 commonName VAR_027790 VAR_027790 disease not phenotype-associated VAR_027791 commonName VAR_027791 VAR_027791 disease not phenotype-associated VAR_027793 commonName VAR_027793 VAR_027793 disease not phenotype-associated VAR_027794 commonName VAR_027794 VAR_027794 disease not phenotype-associated VAR_027795 commonName VAR_027795 VAR_027795 disease phenotype-associated VAR_027795 phenoCommon Autism X-linked type 5 (AUTSX5) [MIM:300847] VAR_027796 commonName VAR_027796 VAR_027796 disease phenotype-associated VAR_027796 phenoCommon Autism X-linked type 5 (AUTSX5) [MIM:300847] VAR_027797 commonName VAR_027797 VAR_027797 disease not phenotype-associated VAR_027798 commonName VAR_027798 VAR_027798 disease not phenotype-associated VAR_027799 commonName VAR_027799 VAR_027799 disease not phenotype-associated VAR_027800 commonName VAR_027800 VAR_027800 disease not phenotype-associated VAR_027801 commonName VAR_027801 VAR_027801 disease not phenotype-associated VAR_027802 commonName VAR_027802 VAR_027802 disease not phenotype-associated VAR_027803 commonName VAR_027803 VAR_027803 disease not phenotype-associated VAR_027804 commonName VAR_027804 VAR_027804 disease not phenotype-associated VAR_027805 commonName VAR_027805 VAR_027805 disease not phenotype-associated VAR_027806 commonName VAR_027806 VAR_027806 disease not phenotype-associated VAR_027807 commonName VAR_027807 VAR_027807 disease not phenotype-associated VAR_027808 commonName VAR_027808 VAR_027808 disease not phenotype-associated VAR_027809 commonName VAR_027809 VAR_027809 disease not phenotype-associated VAR_027810 commonName VAR_027810 VAR_027810 disease not phenotype-associated VAR_027811 commonName VAR_027811 VAR_027811 disease not phenotype-associated VAR_027812 commonName VAR_027812 VAR_027812 disease not phenotype-associated VAR_027813 commonName VAR_027813 VAR_027813 disease not phenotype-associated VAR_027815 commonName VAR_027815 VAR_027815 disease not phenotype-associated VAR_027824 commonName VAR_027824 VAR_027824 disease not phenotype-associated VAR_027825 commonName VAR_027825 VAR_027825 disease not phenotype-associated VAR_027826 commonName VAR_027826 VAR_027826 disease not phenotype-associated VAR_027827 commonName VAR_027827 VAR_027827 disease not phenotype-associated VAR_027828 commonName VAR_027828 VAR_027828 disease not phenotype-associated VAR_027829 commonName VAR_027829 VAR_027829 disease not phenotype-associated VAR_027830 commonName VAR_027830 VAR_027830 disease not phenotype-associated VAR_027831 commonName VAR_027831 VAR_027831 disease not phenotype-associated VAR_027832 commonName VAR_027832 VAR_027832 disease not phenotype-associated VAR_027833 commonName VAR_027833 VAR_027833 disease not phenotype-associated VAR_027834 commonName VAR_027834 VAR_027834 disease not phenotype-associated VAR_027835 commonName VAR_027835 VAR_027835 disease not phenotype-associated VAR_027836 commonName VAR_027836 VAR_027836 disease not phenotype-associated VAR_027837 commonName VAR_027837 VAR_027837 disease not phenotype-associated VAR_027838 commonName VAR_027838 VAR_027838 disease not phenotype-associated VAR_027839 commonName VAR_027839 VAR_027839 disease not phenotype-associated VAR_027840 commonName VAR_027840 VAR_027840 disease not phenotype-associated VAR_027841 commonName VAR_027841 VAR_027841 disease not phenotype-associated VAR_027842 commonName VAR_027842 VAR_027842 disease not phenotype-associated VAR_027843 commonName VAR_027843 VAR_027843 disease not phenotype-associated VAR_027844 commonName VAR_027844 VAR_027844 disease not phenotype-associated VAR_027845 commonName VAR_027845 VAR_027845 disease not phenotype-associated VAR_027846 commonName VAR_027846 VAR_027846 disease not phenotype-associated VAR_027848 commonName VAR_027848 VAR_027848 disease not phenotype-associated VAR_027849 commonName VAR_027849 VAR_027849 disease not phenotype-associated VAR_027850 commonName VAR_027850 VAR_027850 disease not phenotype-associated VAR_027851 commonName VAR_027851 VAR_027851 disease not phenotype-associated VAR_027852 commonName VAR_027852 VAR_027852 disease not phenotype-associated VAR_027853 commonName VAR_027853 VAR_027853 disease not phenotype-associated VAR_027854 commonName VAR_027854 VAR_027854 disease not phenotype-associated VAR_027855 commonName VAR_027855 VAR_027855 disease not phenotype-associated VAR_027856 commonName VAR_027856 VAR_027856 disease not phenotype-associated VAR_027857 commonName VAR_027857 VAR_027857 disease not phenotype-associated VAR_027859 commonName VAR_027859 VAR_027859 disease not phenotype-associated VAR_027860 commonName VAR_027860 VAR_027860 disease not phenotype-associated VAR_027861 commonName VAR_027861 VAR_027861 disease not phenotype-associated VAR_027862 commonName VAR_027862 VAR_027862 disease not phenotype-associated VAR_027863 commonName VAR_027863 VAR_027863 disease not phenotype-associated VAR_027864 commonName VAR_027864 VAR_027864 disease not phenotype-associated VAR_027865 commonName VAR_027865 VAR_027865 disease not phenotype-associated VAR_027866 commonName VAR_027866 VAR_027866 disease not phenotype-associated VAR_027868 commonName VAR_027868 VAR_027868 disease not phenotype-associated VAR_027869 commonName VAR_027869 VAR_027869 disease not phenotype-associated VAR_027870 commonName VAR_027870 VAR_027870 disease not phenotype-associated VAR_027871 commonName VAR_027871 VAR_027871 disease not phenotype-associated VAR_027872 commonName VAR_027872 VAR_027872 disease not phenotype-associated VAR_027873 commonName VAR_027873 VAR_027873 disease not phenotype-associated VAR_027874 commonName VAR_027874 VAR_027874 disease not phenotype-associated VAR_027875 commonName VAR_027875 VAR_027875 disease not phenotype-associated VAR_027876 commonName VAR_027876 VAR_027876 disease not phenotype-associated VAR_027877 commonName VAR_027877 VAR_027877 disease not phenotype-associated VAR_027878 commonName VAR_027878 VAR_027878 disease not phenotype-associated VAR_027882 commonName VAR_027882 VAR_027882 disease not phenotype-associated VAR_027883 commonName VAR_027883 VAR_027883 disease not phenotype-associated VAR_027884 commonName VAR_027884 VAR_027884 disease not phenotype-associated VAR_027885 commonName VAR_027885 VAR_027885 disease not phenotype-associated VAR_027886 commonName VAR_027886 VAR_027886 disease not phenotype-associated VAR_027887 commonName VAR_027887 VAR_027887 disease not phenotype-associated VAR_027888 commonName VAR_027888 VAR_027888 disease not phenotype-associated VAR_027889 commonName VAR_027889 VAR_027889 disease not phenotype-associated VAR_027890 commonName VAR_027890 VAR_027890 disease not phenotype-associated VAR_027891 commonName VAR_027891 VAR_027891 disease not phenotype-associated VAR_027892 commonName VAR_027892 VAR_027892 disease not phenotype-associated VAR_027893 commonName VAR_027893 VAR_027893 disease not phenotype-associated VAR_027894 commonName VAR_027894 VAR_027894 disease not phenotype-associated VAR_027895 commonName VAR_027895 VAR_027895 disease not phenotype-associated VAR_027896 commonName VAR_027896 VAR_027896 disease not phenotype-associated VAR_027897 commonName VAR_027897 VAR_027897 disease not phenotype-associated VAR_027898 commonName VAR_027898 VAR_027898 disease not phenotype-associated VAR_027899 commonName VAR_027899 VAR_027899 disease not phenotype-associated VAR_027900 commonName VAR_027900 VAR_027900 disease not phenotype-associated VAR_027901 commonName VAR_027901 VAR_027901 disease not phenotype-associated VAR_027902 commonName VAR_027902 VAR_027902 disease not phenotype-associated VAR_027903 commonName VAR_027903 VAR_027903 disease not phenotype-associated VAR_027904 commonName VAR_027904 VAR_027904 disease not phenotype-associated VAR_027905 commonName VAR_027905 VAR_027905 disease not phenotype-associated VAR_027906 commonName VAR_027906 VAR_027906 disease not phenotype-associated VAR_027907 commonName VAR_027907 VAR_027907 disease not phenotype-associated VAR_027908 commonName VAR_027908 VAR_027908 disease not phenotype-associated VAR_027909 commonName VAR_027909 VAR_027909 disease not phenotype-associated VAR_027910 commonName VAR_027910 VAR_027910 disease not phenotype-associated VAR_027911 commonName VAR_027911 VAR_027911 disease not phenotype-associated VAR_027912 commonName VAR_027912 VAR_027912 disease not phenotype-associated VAR_027914 commonName VAR_027914 VAR_027914 disease not phenotype-associated VAR_027915 commonName VAR_027915 VAR_027915 disease not phenotype-associated VAR_027916 commonName VAR_027916 VAR_027916 disease not phenotype-associated VAR_027917 commonName VAR_027917 VAR_027917 disease not phenotype-associated VAR_027918 commonName VAR_027918 VAR_027918 disease not phenotype-associated VAR_027919 commonName VAR_027919 VAR_027919 disease not phenotype-associated VAR_027920 commonName VAR_027920 VAR_027920 disease not phenotype-associated VAR_027921 commonName VAR_027921 VAR_027921 disease not phenotype-associated VAR_027922 commonName VAR_027922 VAR_027922 disease not phenotype-associated VAR_027923 commonName VAR_027923 VAR_027923 disease not phenotype-associated VAR_027924 commonName VAR_027924 VAR_027924 disease not phenotype-associated VAR_027926 commonName VAR_027926 VAR_027926 disease not phenotype-associated VAR_027927 commonName VAR_027927 VAR_027927 disease not phenotype-associated VAR_027928 commonName VAR_027928 VAR_027928 disease not phenotype-associated VAR_027929 commonName VAR_027929 VAR_027929 disease not phenotype-associated VAR_027930 commonName VAR_027930 VAR_027930 disease not phenotype-associated VAR_027931 commonName VAR_027931 VAR_027931 disease not phenotype-associated VAR_027932 commonName VAR_027932 VAR_027932 disease not phenotype-associated VAR_027933 commonName VAR_027933 VAR_027933 disease not phenotype-associated VAR_027934 commonName VAR_027934 VAR_027934 disease not phenotype-associated VAR_027935 commonName VAR_027935 VAR_027935 disease not phenotype-associated VAR_027936 commonName VAR_027936 VAR_027936 disease not phenotype-associated VAR_027937 commonName VAR_027937 VAR_027937 disease not phenotype-associated VAR_027938 commonName VAR_027938 VAR_027938 disease not phenotype-associated VAR_027939 commonName VAR_027939 VAR_027939 disease not phenotype-associated VAR_027940 commonName VAR_027940 VAR_027940 disease not phenotype-associated VAR_027941 commonName VAR_027941 VAR_027941 disease not phenotype-associated VAR_027942 commonName VAR_027942 VAR_027942 disease not phenotype-associated VAR_027943 commonName VAR_027943 VAR_027943 disease not phenotype-associated VAR_027944 commonName VAR_027944 VAR_027944 disease not phenotype-associated VAR_027945 commonName VAR_027945 VAR_027945 disease not phenotype-associated VAR_027946 commonName VAR_027946 VAR_027946 disease not phenotype-associated VAR_027947 commonName VAR_027947 VAR_027947 disease not phenotype-associated VAR_027948 commonName VAR_027948 VAR_027948 disease not phenotype-associated VAR_027949 commonName VAR_027949 VAR_027949 disease not phenotype-associated VAR_027950 commonName VAR_027950 VAR_027950 disease not phenotype-associated VAR_027951 commonName VAR_027951 VAR_027951 disease not phenotype-associated VAR_027952 commonName VAR_027952 VAR_027952 disease not phenotype-associated VAR_027953 commonName VAR_027953 VAR_027953 disease not phenotype-associated VAR_027954 commonName VAR_027954 VAR_027954 disease not phenotype-associated VAR_027955 commonName VAR_027955 VAR_027955 disease not phenotype-associated VAR_027956 commonName VAR_027956 VAR_027956 disease not phenotype-associated VAR_027957 commonName VAR_027957 VAR_027957 disease not phenotype-associated VAR_027958 commonName VAR_027958 VAR_027958 disease not phenotype-associated VAR_027959 commonName VAR_027959 VAR_027959 disease not phenotype-associated VAR_027960 commonName VAR_027960 VAR_027960 disease not phenotype-associated VAR_027962 commonName VAR_027962 VAR_027962 disease not phenotype-associated VAR_027965 commonName VAR_027965 VAR_027965 disease not phenotype-associated VAR_027966 commonName VAR_027966 VAR_027966 disease not phenotype-associated VAR_027967 commonName VAR_027967 VAR_027967 disease not phenotype-associated VAR_027968 commonName VAR_027968 VAR_027968 disease not phenotype-associated VAR_027970 commonName VAR_027970 VAR_027970 disease not phenotype-associated VAR_027971 commonName VAR_027971 VAR_027971 disease not phenotype-associated VAR_027972 commonName VAR_027972 VAR_027972 disease not phenotype-associated VAR_027975 commonName VAR_027975 VAR_027975 disease not phenotype-associated VAR_027976 commonName VAR_027976 VAR_027976 disease not phenotype-associated VAR_027977 commonName VAR_027977 VAR_027977 disease not phenotype-associated VAR_027978 commonName VAR_027978 VAR_027978 disease not phenotype-associated VAR_027979 commonName VAR_027979 VAR_027979 disease not phenotype-associated VAR_027980 commonName VAR_027980 VAR_027980 disease not phenotype-associated VAR_027981 commonName VAR_027981 VAR_027981 disease not phenotype-associated VAR_027982 commonName VAR_027982 VAR_027982 disease not phenotype-associated VAR_027983 commonName VAR_027983 VAR_027983 disease not phenotype-associated VAR_027984 commonName VAR_027984 VAR_027984 disease not phenotype-associated VAR_027985 commonName VAR_027985 VAR_027985 disease not phenotype-associated VAR_027986 commonName VAR_027986 VAR_027986 disease not phenotype-associated VAR_027987 commonName VAR_027987 VAR_027987 disease not phenotype-associated VAR_027988 commonName VAR_027988 VAR_027988 disease not phenotype-associated VAR_027989 commonName VAR_027989 VAR_027989 disease not phenotype-associated VAR_027990 commonName VAR_027990 VAR_027990 disease not phenotype-associated VAR_027991 commonName VAR_027991 VAR_027991 disease not phenotype-associated VAR_027992 commonName VAR_027992 VAR_027992 disease not phenotype-associated VAR_027993 commonName VAR_027993 VAR_027993 disease not phenotype-associated VAR_027994 commonName VAR_027994 VAR_027994 disease not phenotype-associated VAR_027995 commonName VAR_027995 VAR_027995 disease not phenotype-associated VAR_027999 commonName VAR_027999 VAR_027999 disease not phenotype-associated VAR_028000 commonName VAR_028000 VAR_028000 disease not phenotype-associated VAR_028001 commonName VAR_028001 VAR_028001 disease not phenotype-associated VAR_028002 commonName VAR_028002 VAR_028002 disease not phenotype-associated VAR_028005 commonName VAR_028005 VAR_028005 disease not phenotype-associated VAR_028006 commonName VAR_028006 VAR_028006 disease not phenotype-associated VAR_028007 commonName VAR_028007 VAR_028007 disease not phenotype-associated VAR_028008 commonName VAR_028008 VAR_028008 disease not phenotype-associated VAR_028010 commonName VAR_028010 VAR_028010 disease not phenotype-associated VAR_028011 commonName VAR_028011 VAR_028011 disease not phenotype-associated VAR_028012 commonName VAR_028012 VAR_028012 disease not phenotype-associated VAR_028013 commonName VAR_028013 VAR_028013 disease not phenotype-associated VAR_028014 commonName VAR_028014 VAR_028014 disease not phenotype-associated VAR_028015 commonName VAR_028015 VAR_028015 disease not phenotype-associated VAR_028017 commonName VAR_028017 VAR_028017 disease not phenotype-associated VAR_028018 commonName VAR_028018 VAR_028018 disease not phenotype-associated VAR_028019 commonName VAR_028019 VAR_028019 disease not phenotype-associated VAR_028020 commonName VAR_028020 VAR_028020 disease not phenotype-associated VAR_028021 commonName VAR_028021 VAR_028021 disease not phenotype-associated VAR_028022 commonName VAR_028022 VAR_028022 disease not phenotype-associated VAR_028023 commonName VAR_028023 VAR_028023 disease not phenotype-associated VAR_028024 commonName VAR_028024 VAR_028024 disease not phenotype-associated VAR_028025 commonName VAR_028025 VAR_028025 disease not phenotype-associated VAR_028026 commonName VAR_028026 VAR_028026 disease not phenotype-associated VAR_028027 commonName VAR_028027 VAR_028027 disease not phenotype-associated VAR_028028 commonName VAR_028028 VAR_028028 disease not phenotype-associated VAR_028029 commonName VAR_028029 VAR_028029 disease not phenotype-associated VAR_028030 commonName VAR_028030 VAR_028030 disease not phenotype-associated VAR_028031 commonName VAR_028031 VAR_028031 disease not phenotype-associated VAR_028032 commonName VAR_028032 VAR_028032 disease not phenotype-associated VAR_028033 commonName VAR_028033 VAR_028033 disease not phenotype-associated VAR_028034 commonName VAR_028034 VAR_028034 disease not phenotype-associated VAR_028035 commonName VAR_028035 VAR_028035 disease not phenotype-associated VAR_028037 commonName VAR_028037 VAR_028037 disease not phenotype-associated VAR_028038 commonName VAR_028038 VAR_028038 disease not phenotype-associated VAR_028039 commonName VAR_028039 VAR_028039 disease not phenotype-associated VAR_028040 commonName VAR_028040 VAR_028040 disease not phenotype-associated VAR_028041 commonName VAR_028041 VAR_028041 disease not phenotype-associated VAR_028042 commonName VAR_028042 VAR_028042 disease not phenotype-associated VAR_028043 commonName VAR_028043 VAR_028043 disease not phenotype-associated VAR_028045 commonName VAR_028045 VAR_028045 disease not phenotype-associated VAR_028046 commonName VAR_028046 VAR_028046 disease not phenotype-associated VAR_028047 commonName VAR_028047 VAR_028047 disease not phenotype-associated VAR_028048 commonName VAR_028048 VAR_028048 disease not phenotype-associated VAR_028049 commonName VAR_028049 VAR_028049 disease not phenotype-associated VAR_028050 commonName VAR_028050 VAR_028050 disease not phenotype-associated VAR_028051 commonName VAR_028051 VAR_028051 disease not phenotype-associated VAR_028052 commonName VAR_028052 VAR_028052 disease not phenotype-associated VAR_028053 commonName VAR_028053 VAR_028053 disease not phenotype-associated VAR_028054 commonName VAR_028054 VAR_028054 disease not phenotype-associated VAR_028055 commonName VAR_028055 VAR_028055 disease not phenotype-associated VAR_028056 commonName VAR_028056 VAR_028056 disease not phenotype-associated VAR_028057 commonName VAR_028057 VAR_028057 disease not phenotype-associated VAR_028058 commonName VAR_028058 VAR_028058 disease not phenotype-associated VAR_028064 commonName VAR_028064 VAR_028064 disease not phenotype-associated VAR_028065 commonName VAR_028065 VAR_028065 disease not phenotype-associated VAR_028067 commonName VAR_028067 VAR_028067 disease not phenotype-associated VAR_028068 commonName VAR_028068 VAR_028068 disease not phenotype-associated VAR_028069 commonName VAR_028069 VAR_028069 disease not phenotype-associated VAR_028071 commonName VAR_028071 VAR_028071 disease not phenotype-associated VAR_028072 commonName VAR_028072 VAR_028072 disease not phenotype-associated VAR_028073 commonName VAR_028073 VAR_028073 disease not phenotype-associated VAR_028074 commonName VAR_028074 VAR_028074 disease not phenotype-associated VAR_028075 commonName VAR_028075 VAR_028075 disease not phenotype-associated VAR_028076 commonName VAR_028076 VAR_028076 disease not phenotype-associated VAR_028077 commonName VAR_028077 VAR_028077 disease not phenotype-associated VAR_028078 commonName VAR_028078 VAR_028078 disease not phenotype-associated VAR_028079 commonName VAR_028079 VAR_028079 disease not phenotype-associated VAR_028080 commonName VAR_028080 VAR_028080 disease not phenotype-associated VAR_028081 commonName VAR_028081 VAR_028081 disease not phenotype-associated VAR_028082 commonName VAR_028082 VAR_028082 disease not phenotype-associated VAR_028083 commonName VAR_028083 VAR_028083 disease not phenotype-associated VAR_028084 commonName VAR_028084 VAR_028084 disease not phenotype-associated VAR_028085 commonName VAR_028085 VAR_028085 disease not phenotype-associated VAR_028086 commonName VAR_028086 VAR_028086 disease not phenotype-associated VAR_028087 commonName VAR_028087 VAR_028087 disease not phenotype-associated VAR_028089 commonName VAR_028089 VAR_028089 disease not phenotype-associated VAR_028090 commonName VAR_028090 VAR_028090 disease not phenotype-associated VAR_028091 commonName VAR_028091 VAR_028091 disease not phenotype-associated VAR_028094 commonName VAR_028094 VAR_028094 disease not phenotype-associated VAR_028095 commonName VAR_028095 VAR_028095 disease not phenotype-associated VAR_028096 commonName VAR_028096 VAR_028096 disease not phenotype-associated VAR_028097 commonName VAR_028097 VAR_028097 disease not phenotype-associated VAR_028098 commonName VAR_028098 VAR_028098 disease not phenotype-associated VAR_028099 commonName VAR_028099 VAR_028099 disease not phenotype-associated VAR_028100 commonName VAR_028100 VAR_028100 disease not phenotype-associated VAR_028101 commonName VAR_028101 VAR_028101 disease not phenotype-associated VAR_028102 commonName VAR_028102 VAR_028102 disease not phenotype-associated VAR_028103 commonName VAR_028103 VAR_028103 disease not phenotype-associated VAR_028104 commonName VAR_028104 VAR_028104 disease not phenotype-associated VAR_028105 commonName VAR_028105 VAR_028105 disease not phenotype-associated VAR_028106 commonName VAR_028106 VAR_028106 disease not phenotype-associated VAR_028107 commonName VAR_028107 VAR_028107 disease not phenotype-associated VAR_028108 commonName VAR_028108 VAR_028108 disease not phenotype-associated VAR_028109 commonName VAR_028109 VAR_028109 disease not phenotype-associated VAR_028110 commonName VAR_028110 VAR_028110 disease not phenotype-associated VAR_028111 commonName VAR_028111 VAR_028111 disease not phenotype-associated VAR_028112 commonName VAR_028112 VAR_028112 disease not phenotype-associated VAR_028113 commonName VAR_028113 VAR_028113 disease not phenotype-associated VAR_028114 commonName VAR_028114 VAR_028114 disease not phenotype-associated VAR_028115 commonName VAR_028115 VAR_028115 disease not phenotype-associated VAR_028116 commonName VAR_028116 VAR_028116 disease not phenotype-associated VAR_028117 commonName VAR_028117 VAR_028117 disease not phenotype-associated VAR_028118 commonName VAR_028118 VAR_028118 disease not phenotype-associated VAR_028119 commonName VAR_028119 VAR_028119 disease not phenotype-associated VAR_028120 commonName VAR_028120 VAR_028120 disease not phenotype-associated VAR_028121 commonName VAR_028121 VAR_028121 disease not phenotype-associated VAR_028122 commonName VAR_028122 VAR_028122 disease not phenotype-associated VAR_028123 commonName VAR_028123 VAR_028123 disease not phenotype-associated VAR_028124 commonName VAR_028124 VAR_028124 disease not phenotype-associated VAR_028125 commonName VAR_028125 VAR_028125 disease not phenotype-associated VAR_028126 commonName VAR_028126 VAR_028126 disease not phenotype-associated VAR_028127 commonName VAR_028127 VAR_028127 disease not phenotype-associated VAR_028128 commonName VAR_028128 VAR_028128 disease not phenotype-associated VAR_028129 commonName VAR_028129 VAR_028129 disease not phenotype-associated VAR_028130 commonName VAR_028130 VAR_028130 disease not phenotype-associated VAR_028131 commonName VAR_028131 VAR_028131 disease not phenotype-associated VAR_028132 commonName VAR_028132 VAR_028132 disease not phenotype-associated VAR_028133 commonName VAR_028133 VAR_028133 disease not phenotype-associated VAR_028134 commonName VAR_028134 VAR_028134 disease not phenotype-associated VAR_028135 commonName VAR_028135 VAR_028135 disease not phenotype-associated VAR_028136 commonName VAR_028136 VAR_028136 disease not phenotype-associated VAR_028138 commonName VAR_028138 VAR_028138 disease not phenotype-associated VAR_028139 commonName VAR_028139 VAR_028139 disease not phenotype-associated VAR_028140 commonName VAR_028140 VAR_028140 disease not phenotype-associated VAR_028141 commonName VAR_028141 VAR_028141 disease not phenotype-associated VAR_028142 commonName VAR_028142 VAR_028142 disease not phenotype-associated VAR_028143 commonName VAR_028143 VAR_028143 disease not phenotype-associated VAR_028144 commonName VAR_028144 VAR_028144 disease not phenotype-associated VAR_028145 commonName VAR_028145 VAR_028145 disease not phenotype-associated VAR_028146 commonName VAR_028146 VAR_028146 disease not phenotype-associated VAR_028147 commonName VAR_028147 VAR_028147 disease not phenotype-associated VAR_028148 commonName VAR_028148 VAR_028148 disease not phenotype-associated VAR_028149 commonName VAR_028149 VAR_028149 disease not phenotype-associated VAR_028150 commonName VAR_028150 VAR_028150 disease not phenotype-associated VAR_028151 commonName VAR_028151 VAR_028151 disease not phenotype-associated VAR_028152 commonName VAR_028152 VAR_028152 disease not phenotype-associated VAR_028153 commonName VAR_028153 VAR_028153 disease not phenotype-associated VAR_028155 commonName VAR_028155 VAR_028155 disease not phenotype-associated VAR_028156 commonName VAR_028156 VAR_028156 disease not phenotype-associated VAR_028157 commonName VAR_028157 VAR_028157 disease not phenotype-associated VAR_028158 commonName VAR_028158 VAR_028158 disease not phenotype-associated VAR_028159 commonName VAR_028159 VAR_028159 disease not phenotype-associated VAR_028160 commonName VAR_028160 VAR_028160 disease not phenotype-associated VAR_028161 commonName VAR_028161 VAR_028161 disease not phenotype-associated VAR_028162 commonName VAR_028162 VAR_028162 disease not phenotype-associated VAR_028164 commonName VAR_028164 VAR_028164 disease not phenotype-associated VAR_028165 commonName VAR_028165 VAR_028165 disease not phenotype-associated VAR_028166 commonName VAR_028166 VAR_028166 disease not phenotype-associated VAR_028167 commonName VAR_028167 VAR_028167 disease phenotype-associated VAR_028167 phenoCommon Breast cancer (BC) [MIM:114480] VAR_028168 commonName VAR_028168 VAR_028168 disease phenotype-associated VAR_028168 phenoCommon Breast cancer (BC) [MIM:114480] VAR_028169 commonName VAR_028169 VAR_028169 disease phenotype-associated VAR_028169 phenoCommon Breast cancer (BC) [MIM:114480] VAR_028170 commonName VAR_028170 VAR_028170 disease not phenotype-associated VAR_028171 commonName VAR_028171 VAR_028171 disease not phenotype-associated VAR_028172 commonName VAR_028172 VAR_028172 disease not phenotype-associated VAR_028173 commonName VAR_028173 VAR_028173 disease not phenotype-associated VAR_028174 commonName VAR_028174 VAR_028174 disease not phenotype-associated VAR_028175 commonName VAR_028175 VAR_028175 disease not phenotype-associated VAR_028176 commonName VAR_028176 VAR_028176 disease not phenotype-associated VAR_028177 commonName VAR_028177 VAR_028177 disease not phenotype-associated VAR_028178 commonName VAR_028178 VAR_028178 disease not phenotype-associated VAR_028179 commonName VAR_028179 VAR_028179 disease not phenotype-associated VAR_028180 commonName VAR_028180 VAR_028180 disease not phenotype-associated VAR_028181 commonName VAR_028181 VAR_028181 disease not phenotype-associated VAR_028182 commonName VAR_028182 VAR_028182 disease not phenotype-associated VAR_028183 commonName VAR_028183 VAR_028183 disease not phenotype-associated VAR_028184 commonName VAR_028184 VAR_028184 disease not phenotype-associated VAR_028185 commonName VAR_028185 VAR_028185 disease not phenotype-associated VAR_028186 commonName VAR_028186 VAR_028186 disease not phenotype-associated VAR_028187 commonName VAR_028187 VAR_028187 disease not phenotype-associated VAR_028188 commonName VAR_028188 VAR_028188 disease not phenotype-associated VAR_028189 commonName VAR_028189 VAR_028189 disease not phenotype-associated VAR_028190 commonName VAR_028190 VAR_028190 disease not phenotype-associated VAR_028191 commonName VAR_028191 VAR_028191 disease not phenotype-associated VAR_028192 commonName VAR_028192 VAR_028192 disease not phenotype-associated VAR_028193 commonName VAR_028193 VAR_028193 disease not phenotype-associated VAR_028194 commonName VAR_028194 VAR_028194 disease not phenotype-associated VAR_028195 commonName VAR_028195 VAR_028195 disease not phenotype-associated VAR_028196 commonName VAR_028196 VAR_028196 disease not phenotype-associated VAR_028197 commonName VAR_028197 VAR_028197 disease not phenotype-associated VAR_028198 commonName VAR_028198 VAR_028198 disease not phenotype-associated VAR_028199 commonName VAR_028199 VAR_028199 disease not phenotype-associated VAR_028200 commonName VAR_028200 VAR_028200 disease not phenotype-associated VAR_028201 commonName VAR_028201 VAR_028201 disease not phenotype-associated VAR_028202 commonName VAR_028202 VAR_028202 disease not phenotype-associated VAR_028203 commonName VAR_028203 VAR_028203 disease not phenotype-associated VAR_028204 commonName VAR_028204 VAR_028204 disease not phenotype-associated VAR_028205 commonName VAR_028205 VAR_028205 disease not phenotype-associated VAR_028206 commonName VAR_028206 VAR_028206 disease not phenotype-associated VAR_028207 commonName VAR_028207 VAR_028207 disease not phenotype-associated VAR_028208 commonName VAR_028208 VAR_028208 disease not phenotype-associated VAR_028209 commonName VAR_028209 VAR_028209 disease not phenotype-associated VAR_028210 commonName VAR_028210 VAR_028210 disease not phenotype-associated VAR_028211 commonName VAR_028211 VAR_028211 disease not phenotype-associated VAR_028212 commonName VAR_028212 VAR_028212 disease not phenotype-associated VAR_028213 commonName VAR_028213 VAR_028213 disease not phenotype-associated VAR_028214 commonName VAR_028214 VAR_028214 disease not phenotype-associated VAR_028215 commonName VAR_028215 VAR_028215 disease not phenotype-associated VAR_028216 commonName VAR_028216 VAR_028216 disease not phenotype-associated VAR_028217 commonName VAR_028217 VAR_028217 disease not phenotype-associated VAR_028218 commonName VAR_028218 VAR_028218 disease not phenotype-associated VAR_028219 commonName VAR_028219 VAR_028219 disease not phenotype-associated VAR_028220 commonName VAR_028220 VAR_028220 disease not phenotype-associated VAR_028221 commonName VAR_028221 VAR_028221 disease not phenotype-associated VAR_028222 commonName VAR_028222 VAR_028222 disease not phenotype-associated VAR_028223 commonName VAR_028223 VAR_028223 disease not phenotype-associated VAR_028224 commonName VAR_028224 VAR_028224 disease not phenotype-associated VAR_028225 commonName VAR_028225 VAR_028225 disease not phenotype-associated VAR_028226 commonName VAR_028226 VAR_028226 disease not phenotype-associated VAR_028227 commonName VAR_028227 VAR_028227 disease not phenotype-associated VAR_028228 commonName VAR_028228 VAR_028228 disease not phenotype-associated VAR_028229 commonName VAR_028229 VAR_028229 disease not phenotype-associated VAR_028230 commonName VAR_028230 VAR_028230 disease not phenotype-associated VAR_028231 commonName VAR_028231 VAR_028231 disease not phenotype-associated VAR_028232 commonName VAR_028232 VAR_028232 disease not phenotype-associated VAR_028234 commonName VAR_028234 VAR_028234 disease not phenotype-associated VAR_028235 commonName VAR_028235 VAR_028235 disease not phenotype-associated VAR_028236 commonName VAR_028236 VAR_028236 disease not phenotype-associated VAR_028237 commonName VAR_028237 VAR_028237 disease not phenotype-associated VAR_028239 commonName VAR_028239 VAR_028239 disease not phenotype-associated VAR_028240 commonName VAR_028240 VAR_028240 disease not phenotype-associated VAR_028241 commonName VAR_028241 VAR_028241 disease not phenotype-associated VAR_028242 commonName VAR_028242 VAR_028242 disease not phenotype-associated VAR_028243 commonName VAR_028243 VAR_028243 disease not phenotype-associated VAR_028244 commonName VAR_028244 VAR_028244 disease not phenotype-associated VAR_028245 commonName VAR_028245 VAR_028245 disease not phenotype-associated VAR_028246 commonName VAR_028246 VAR_028246 disease not phenotype-associated VAR_028247 commonName VAR_028247 VAR_028247 disease not phenotype-associated VAR_028248 commonName VAR_028248 VAR_028248 disease not phenotype-associated VAR_028249 commonName VAR_028249 VAR_028249 disease not phenotype-associated VAR_028250 commonName VAR_028250 VAR_028250 disease not phenotype-associated VAR_028251 commonName VAR_028251 VAR_028251 disease not phenotype-associated VAR_028252 commonName VAR_028252 VAR_028252 disease not phenotype-associated VAR_028253 commonName VAR_028253 VAR_028253 disease not phenotype-associated VAR_028254 commonName VAR_028254 VAR_028254 disease not phenotype-associated VAR_028255 commonName VAR_028255 VAR_028255 disease not phenotype-associated VAR_028256 commonName VAR_028256 VAR_028256 disease not phenotype-associated VAR_028257 commonName VAR_028257 VAR_028257 disease not phenotype-associated VAR_028258 commonName VAR_028258 VAR_028258 disease not phenotype-associated VAR_028259 commonName VAR_028259 VAR_028259 disease not phenotype-associated VAR_028260 commonName VAR_028260 VAR_028260 disease not phenotype-associated VAR_028261 commonName VAR_028261 VAR_028261 disease not phenotype-associated VAR_028262 commonName VAR_028262 VAR_028262 disease not phenotype-associated VAR_028263 commonName VAR_028263 VAR_028263 disease not phenotype-associated VAR_028264 commonName VAR_028264 VAR_028264 disease not phenotype-associated VAR_028265 commonName VAR_028265 VAR_028265 disease not phenotype-associated VAR_028266 commonName VAR_028266 VAR_028266 disease not phenotype-associated VAR_028267 commonName VAR_028267 VAR_028267 disease not phenotype-associated VAR_028268 commonName VAR_028268 VAR_028268 disease not phenotype-associated VAR_028269 commonName VAR_028269 VAR_028269 disease not phenotype-associated VAR_028270 commonName VAR_028270 VAR_028270 disease not phenotype-associated VAR_028271 commonName VAR_028271 VAR_028271 disease not phenotype-associated VAR_028272 commonName VAR_028272 VAR_028272 disease not phenotype-associated VAR_028273 commonName VAR_028273 VAR_028273 disease not phenotype-associated VAR_028275 commonName VAR_028275 VAR_028275 disease not phenotype-associated VAR_028276 commonName VAR_028276 VAR_028276 disease not phenotype-associated VAR_028278 commonName VAR_028278 VAR_028278 disease not phenotype-associated VAR_028279 commonName VAR_028279 VAR_028279 disease not phenotype-associated VAR_028280 commonName VAR_028280 VAR_028280 disease not phenotype-associated VAR_028281 commonName VAR_028281 VAR_028281 disease not phenotype-associated VAR_028282 commonName VAR_028282 VAR_028282 disease not phenotype-associated VAR_028283 commonName VAR_028283 VAR_028283 disease not phenotype-associated VAR_028284 commonName VAR_028284 VAR_028284 disease not phenotype-associated VAR_028285 commonName VAR_028285 VAR_028285 disease not phenotype-associated VAR_028286 commonName VAR_028286 VAR_028286 disease not phenotype-associated VAR_028287 commonName VAR_028287 VAR_028287 disease not phenotype-associated VAR_028288 commonName VAR_028288 VAR_028288 disease not phenotype-associated VAR_028289 commonName VAR_028289 VAR_028289 disease not phenotype-associated VAR_028290 commonName VAR_028290 VAR_028290 disease not phenotype-associated VAR_028291 commonName VAR_028291 VAR_028291 disease not phenotype-associated VAR_028292 commonName VAR_028292 VAR_028292 disease not phenotype-associated VAR_028293 commonName VAR_028293 VAR_028293 disease not phenotype-associated VAR_028294 commonName VAR_028294 VAR_028294 disease not phenotype-associated VAR_028295 commonName VAR_028295 VAR_028295 disease not phenotype-associated VAR_028296 commonName VAR_028296 VAR_028296 disease not phenotype-associated VAR_028299 commonName VAR_028299 VAR_028299 disease not phenotype-associated VAR_028300 commonName VAR_028300 VAR_028300 disease not phenotype-associated VAR_028301 commonName VAR_028301 VAR_028301 disease not phenotype-associated VAR_028302 commonName VAR_028302 VAR_028302 disease not phenotype-associated VAR_028303 commonName VAR_028303 VAR_028303 disease not phenotype-associated VAR_028304 commonName VAR_028304 VAR_028304 disease not phenotype-associated VAR_028305 commonName VAR_028305 VAR_028305 disease not phenotype-associated VAR_028306 commonName VAR_028306 VAR_028306 disease not phenotype-associated VAR_028307 commonName VAR_028307 VAR_028307 disease not phenotype-associated VAR_028308 commonName VAR_028308 VAR_028308 disease not phenotype-associated VAR_028309 commonName VAR_028309 VAR_028309 disease not phenotype-associated VAR_028310 commonName VAR_028310 VAR_028310 disease not phenotype-associated VAR_028311 commonName VAR_028311 VAR_028311 disease not phenotype-associated VAR_028312 commonName VAR_028312 VAR_028312 disease not phenotype-associated VAR_028313 commonName VAR_028313 VAR_028313 disease not phenotype-associated VAR_028314 commonName VAR_028314 VAR_028314 disease not phenotype-associated VAR_028315 commonName VAR_028315 VAR_028315 disease not phenotype-associated VAR_028316 commonName VAR_028316 VAR_028316 disease not phenotype-associated VAR_028317 commonName VAR_028317 VAR_028317 disease not phenotype-associated VAR_028318 commonName VAR_028318 VAR_028318 disease not phenotype-associated VAR_028319 commonName VAR_028319 VAR_028319 disease phenotype-associated VAR_028319 phenoCommon Aicardi-Goutieres syndrome type 1 (AGS1) [MIM:225750] VAR_028319 phenoCommon Systemic lupus erythematosus (SLE) [MIM:152700] VAR_028321 commonName VAR_028321 VAR_028321 disease phenotype-associated VAR_028321 phenoCommon Aicardi-Goutieres syndrome type 1 (AGS1) [MIM:225750] VAR_028322 commonName VAR_028322 VAR_028322 disease phenotype-associated VAR_028322 phenoCommon Cone-rod dystrophy type 10 (CORD10) [MIM:610283] VAR_028322 phenoCommon Retinitis pigmentosa type 35 (RP35) [MIM:610282] VAR_028323 commonName VAR_028323 VAR_028323 disease phenotype-associated VAR_028323 phenoCommon Cone-rod dystrophy type 10 (CORD10) [MIM:610283] VAR_028323 phenoCommon Retinitis pigmentosa type 35 (RP35) [MIM:610282] VAR_028324 commonName VAR_028324 VAR_028324 disease not phenotype-associated VAR_028325 commonName VAR_028325 VAR_028325 disease phenotype-associated VAR_028325 phenoCommon Retinitis pigmentosa type 35 (RP35) [MIM:610282] VAR_028326 commonName VAR_028326 VAR_028326 disease phenotype-associated VAR_028326 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_028327 commonName VAR_028327 VAR_028327 disease phenotype-associated VAR_028327 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_028328 commonName VAR_028328 VAR_028328 disease phenotype-associated VAR_028328 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_028329 commonName VAR_028329 VAR_028329 disease phenotype-associated VAR_028329 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_028330 commonName VAR_028330 VAR_028330 disease phenotype-associated VAR_028330 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_028331 commonName VAR_028331 VAR_028331 disease phenotype-associated VAR_028331 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_028332 commonName VAR_028332 VAR_028332 disease phenotype-associated VAR_028332 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_028333 commonName VAR_028333 VAR_028333 disease phenotype-associated VAR_028333 phenoCommon Familial Mediterranean fever autosomal dominant (ADFMF) [MIM:134610] VAR_028334 commonName VAR_028334 VAR_028334 disease not phenotype-associated VAR_028335 commonName VAR_028335 VAR_028335 disease phenotype-associated VAR_028335 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_028336 commonName VAR_028336 VAR_028336 disease phenotype-associated VAR_028336 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_028337 commonName VAR_028337 VAR_028337 disease phenotype-associated VAR_028337 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_028338 commonName VAR_028338 VAR_028338 disease phenotype-associated VAR_028338 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_028339 commonName VAR_028339 VAR_028339 disease phenotype-associated VAR_028339 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_028340 commonName VAR_028340 VAR_028340 disease phenotype-associated VAR_028340 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_028341 commonName VAR_028341 VAR_028341 disease phenotype-associated VAR_028341 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_028342 commonName VAR_028342 VAR_028342 disease phenotype-associated VAR_028342 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_028343 commonName VAR_028343 VAR_028343 disease phenotype-associated VAR_028343 phenoCommon Familial Mediterranean fever autosomal dominant (ADFMF) [MIM:134610] VAR_028343 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_028344 commonName VAR_028344 VAR_028344 disease phenotype-associated VAR_028344 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_028345 commonName VAR_028345 VAR_028345 disease phenotype-associated VAR_028345 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_028346 commonName VAR_028346 VAR_028346 disease phenotype-associated VAR_028346 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_028347 commonName VAR_028347 VAR_028348 commonName VAR_028348 VAR_028348 disease phenotype-associated VAR_028348 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_028349 commonName VAR_028349 VAR_028349 disease phenotype-associated VAR_028349 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_028350 commonName VAR_028350 VAR_028350 disease phenotype-associated VAR_028350 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_028351 commonName VAR_028351 VAR_028351 disease phenotype-associated VAR_028351 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_028352 commonName VAR_028352 VAR_028352 disease phenotype-associated VAR_028352 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_028353 commonName VAR_028353 VAR_028353 disease phenotype-associated VAR_028353 phenoCommon Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100] VAR_028354 commonName VAR_028354 VAR_028354 disease phenotype-associated VAR_028354 phenoCommon Cold-induced sweating syndrome type 2 (CISS2) [MIM:610313] VAR_028355 commonName VAR_028355 VAR_028355 disease not phenotype-associated VAR_028356 commonName VAR_028356 VAR_028356 disease phenotype-associated VAR_028356 phenoCommon Joubert syndrome type 5 (JBTS5) [MIM:610188] VAR_028356 phenoCommon Senior-Loken syndrome type 6 (SLSN6) [MIM:610189] VAR_028359 commonName VAR_028359 VAR_028359 disease not phenotype-associated VAR_028360 commonName VAR_028360 VAR_028360 disease not phenotype-associated VAR_028361 commonName VAR_028361 VAR_028361 disease not phenotype-associated VAR_028362 commonName VAR_028362 VAR_028362 disease not phenotype-associated VAR_028363 commonName VAR_028363 VAR_028363 disease not phenotype-associated VAR_028364 commonName VAR_028364 VAR_028364 disease not phenotype-associated VAR_028366 commonName VAR_028366 VAR_028366 disease not phenotype-associated VAR_028367 commonName VAR_028367 VAR_028367 disease not phenotype-associated VAR_028368 commonName VAR_028368 VAR_028368 disease not phenotype-associated VAR_028369 commonName VAR_028369 VAR_028369 disease not phenotype-associated VAR_028370 commonName VAR_028370 VAR_028370 disease phenotype-associated VAR_028370 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_028371 commonName VAR_028371 VAR_028371 disease not phenotype-associated VAR_028372 commonName VAR_028372 VAR_028372 disease not phenotype-associated VAR_028373 commonName VAR_028373 VAR_028373 disease not phenotype-associated VAR_028374 commonName VAR_028374 VAR_028374 disease not phenotype-associated VAR_028375 commonName VAR_028375 VAR_028375 disease not phenotype-associated VAR_028376 commonName VAR_028376 VAR_028376 disease not phenotype-associated VAR_028377 commonName VAR_028377 VAR_028377 disease not phenotype-associated VAR_028378 commonName VAR_028378 VAR_028378 disease not phenotype-associated VAR_028379 commonName VAR_028379 VAR_028379 disease not phenotype-associated VAR_028380 commonName VAR_028380 VAR_028380 disease not phenotype-associated VAR_028381 commonName VAR_028381 VAR_028381 disease not phenotype-associated VAR_028382 commonName VAR_028382 VAR_028382 disease not phenotype-associated VAR_028383 commonName VAR_028383 VAR_028383 disease not phenotype-associated VAR_028384 commonName VAR_028384 VAR_028384 disease not phenotype-associated VAR_028385 commonName VAR_028385 VAR_028385 disease not phenotype-associated VAR_028386 commonName VAR_028386 VAR_028386 disease not phenotype-associated VAR_028387 commonName VAR_028387 VAR_028387 disease not phenotype-associated VAR_028388 commonName VAR_028388 VAR_028388 disease not phenotype-associated VAR_028389 commonName VAR_028389 VAR_028389 disease not phenotype-associated VAR_028390 commonName VAR_028390 VAR_028390 disease not phenotype-associated VAR_028391 commonName VAR_028391 VAR_028391 disease not phenotype-associated VAR_028392 commonName VAR_028392 VAR_028392 disease not phenotype-associated VAR_028393 commonName VAR_028393 VAR_028393 disease not phenotype-associated VAR_028394 commonName VAR_028394 VAR_028394 disease not phenotype-associated VAR_028395 commonName VAR_028395 VAR_028395 disease not phenotype-associated VAR_028396 commonName VAR_028396 VAR_028396 disease not phenotype-associated VAR_028397 commonName VAR_028397 VAR_028397 disease not phenotype-associated VAR_028398 commonName VAR_028398 VAR_028398 disease not phenotype-associated VAR_028399 commonName VAR_028399 VAR_028399 disease not phenotype-associated VAR_028400 commonName VAR_028400 VAR_028400 disease not phenotype-associated VAR_028402 commonName VAR_028402 VAR_028402 disease not phenotype-associated VAR_028403 commonName VAR_028403 VAR_028403 disease not phenotype-associated VAR_028404 commonName VAR_028404 VAR_028404 disease not phenotype-associated VAR_028405 commonName VAR_028405 VAR_028405 disease not phenotype-associated VAR_028406 commonName VAR_028406 VAR_028406 disease not phenotype-associated VAR_028407 commonName VAR_028407 VAR_028407 disease not phenotype-associated VAR_028408 commonName VAR_028408 VAR_028408 disease not phenotype-associated VAR_028409 commonName VAR_028409 VAR_028409 disease not phenotype-associated VAR_028410 commonName VAR_028410 VAR_028410 disease not phenotype-associated VAR_028411 commonName VAR_028411 VAR_028411 disease not phenotype-associated VAR_028412 commonName VAR_028412 VAR_028412 disease not phenotype-associated VAR_028413 commonName VAR_028413 VAR_028413 disease not phenotype-associated VAR_028414 commonName VAR_028414 VAR_028414 disease not phenotype-associated VAR_028415 commonName VAR_028415 VAR_028415 disease not phenotype-associated VAR_028416 commonName VAR_028416 VAR_028416 disease not phenotype-associated VAR_028417 commonName VAR_028417 VAR_028417 disease not phenotype-associated VAR_028418 commonName VAR_028418 VAR_028418 disease not phenotype-associated VAR_028419 commonName VAR_028419 VAR_028419 disease not phenotype-associated VAR_028420 commonName VAR_028420 VAR_028420 disease not phenotype-associated VAR_028421 commonName VAR_028421 VAR_028421 disease not phenotype-associated VAR_028422 commonName VAR_028422 VAR_028422 disease not phenotype-associated VAR_028423 commonName VAR_028423 VAR_028423 disease not phenotype-associated VAR_028424 commonName VAR_028424 VAR_028424 disease not phenotype-associated VAR_028425 commonName VAR_028425 VAR_028425 disease not phenotype-associated VAR_028426 commonName VAR_028426 VAR_028426 disease not phenotype-associated VAR_028427 commonName VAR_028427 VAR_028427 disease not phenotype-associated VAR_028428 commonName VAR_028428 VAR_028428 disease not phenotype-associated VAR_028429 commonName VAR_028429 VAR_028429 disease not phenotype-associated VAR_028430 commonName VAR_028430 VAR_028430 disease not phenotype-associated VAR_028431 commonName VAR_028431 VAR_028431 disease not phenotype-associated VAR_028432 commonName VAR_028432 VAR_028432 disease not phenotype-associated VAR_028433 commonName VAR_028433 VAR_028433 disease not phenotype-associated VAR_028434 commonName VAR_028434 VAR_028434 disease not phenotype-associated VAR_028435 commonName VAR_028435 VAR_028435 disease not phenotype-associated VAR_028436 commonName VAR_028436 VAR_028436 disease not phenotype-associated VAR_028437 commonName VAR_028437 VAR_028437 disease not phenotype-associated VAR_028438 commonName VAR_028438 VAR_028438 disease not phenotype-associated VAR_028439 commonName VAR_028439 VAR_028439 disease not phenotype-associated VAR_028440 commonName VAR_028440 VAR_028440 disease not phenotype-associated VAR_028441 commonName VAR_028441 VAR_028441 disease not phenotype-associated VAR_028442 commonName VAR_028442 VAR_028442 disease not phenotype-associated VAR_028443 commonName VAR_028443 VAR_028443 disease not phenotype-associated VAR_028444 commonName VAR_028444 VAR_028444 disease phenotype-associated VAR_028444 phenoCommon Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] VAR_028445 commonName VAR_028445 VAR_028445 disease not phenotype-associated VAR_028446 commonName VAR_028446 VAR_028446 disease phenotype-associated VAR_028446 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_028447 commonName VAR_028447 VAR_028447 disease phenotype-associated VAR_028447 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028448 commonName VAR_028448 VAR_028448 disease phenotype-associated VAR_028448 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028449 commonName VAR_028449 VAR_028449 disease phenotype-associated VAR_028449 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028450 commonName VAR_028450 VAR_028450 disease phenotype-associated VAR_028450 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028451 commonName VAR_028451 VAR_028451 disease phenotype-associated VAR_028451 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028452 commonName VAR_028452 VAR_028452 disease phenotype-associated VAR_028452 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028453 commonName VAR_028453 VAR_028453 disease phenotype-associated VAR_028453 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028454 commonName VAR_028454 VAR_028454 disease phenotype-associated VAR_028454 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028455 commonName VAR_028455 VAR_028455 disease phenotype-associated VAR_028455 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028456 commonName VAR_028456 VAR_028456 disease phenotype-associated VAR_028456 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028457 commonName VAR_028457 VAR_028457 disease phenotype-associated VAR_028457 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028458 commonName VAR_028458 VAR_028458 disease phenotype-associated VAR_028458 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028459 commonName VAR_028459 VAR_028459 disease phenotype-associated VAR_028459 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028460 commonName VAR_028460 VAR_028460 disease phenotype-associated VAR_028460 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028463 commonName VAR_028463 VAR_028463 disease phenotype-associated VAR_028463 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028464 commonName VAR_028464 VAR_028464 disease phenotype-associated VAR_028464 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028465 commonName VAR_028465 VAR_028465 disease phenotype-associated VAR_028465 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028466 commonName VAR_028466 VAR_028466 disease phenotype-associated VAR_028466 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028467 commonName VAR_028467 VAR_028467 disease phenotype-associated VAR_028467 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028468 commonName VAR_028468 VAR_028468 disease phenotype-associated VAR_028468 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028469 commonName VAR_028469 VAR_028469 disease phenotype-associated VAR_028469 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028470 commonName VAR_028470 VAR_028470 disease phenotype-associated VAR_028470 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028471 commonName VAR_028471 VAR_028471 disease phenotype-associated VAR_028471 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028472 commonName VAR_028472 VAR_028472 disease phenotype-associated VAR_028472 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028473 commonName VAR_028473 VAR_028473 disease phenotype-associated VAR_028473 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028474 commonName VAR_028474 VAR_028474 disease phenotype-associated VAR_028474 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028475 commonName VAR_028475 VAR_028475 disease phenotype-associated VAR_028475 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028476 commonName VAR_028476 VAR_028476 disease phenotype-associated VAR_028476 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028477 commonName VAR_028477 VAR_028477 disease phenotype-associated VAR_028477 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028478 commonName VAR_028478 VAR_028478 disease phenotype-associated VAR_028478 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028479 commonName VAR_028479 VAR_028479 disease phenotype-associated VAR_028479 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028480 commonName VAR_028480 VAR_028480 disease phenotype-associated VAR_028480 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028481 commonName VAR_028481 VAR_028481 disease phenotype-associated VAR_028481 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028482 commonName VAR_028482 VAR_028482 disease phenotype-associated VAR_028482 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028483 commonName VAR_028483 VAR_028483 disease phenotype-associated VAR_028483 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028484 commonName VAR_028484 VAR_028484 disease phenotype-associated VAR_028484 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028485 commonName VAR_028485 VAR_028485 disease phenotype-associated VAR_028485 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028486 commonName VAR_028486 VAR_028486 disease phenotype-associated VAR_028486 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028487 commonName VAR_028487 VAR_028487 disease phenotype-associated VAR_028487 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028488 commonName VAR_028488 VAR_028488 disease phenotype-associated VAR_028488 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028489 commonName VAR_028489 VAR_028489 disease phenotype-associated VAR_028489 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028490 commonName VAR_028490 VAR_028490 disease phenotype-associated VAR_028490 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028491 commonName VAR_028491 VAR_028491 disease phenotype-associated VAR_028491 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028492 commonName VAR_028492 VAR_028492 disease phenotype-associated VAR_028492 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028493 commonName VAR_028493 VAR_028493 disease phenotype-associated VAR_028493 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028494 commonName VAR_028494 VAR_028494 disease phenotype-associated VAR_028494 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028495 commonName VAR_028495 VAR_028495 disease phenotype-associated VAR_028495 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028496 commonName VAR_028496 VAR_028496 disease phenotype-associated VAR_028496 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028497 commonName VAR_028497 VAR_028497 disease phenotype-associated VAR_028497 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028498 commonName VAR_028498 VAR_028498 disease phenotype-associated VAR_028498 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028499 commonName VAR_028499 VAR_028499 disease phenotype-associated VAR_028499 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028500 commonName VAR_028500 VAR_028500 disease phenotype-associated VAR_028500 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028501 commonName VAR_028501 VAR_028501 disease phenotype-associated VAR_028501 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028502 commonName VAR_028502 VAR_028502 disease phenotype-associated VAR_028502 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028503 commonName VAR_028503 VAR_028503 disease phenotype-associated VAR_028503 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028504 commonName VAR_028504 VAR_028504 disease phenotype-associated VAR_028504 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028505 commonName VAR_028505 VAR_028505 disease phenotype-associated VAR_028505 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028506 commonName VAR_028506 VAR_028506 disease phenotype-associated VAR_028506 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028507 commonName VAR_028507 VAR_028507 disease phenotype-associated VAR_028507 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028508 commonName VAR_028508 VAR_028508 disease phenotype-associated VAR_028508 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028510 commonName VAR_028510 VAR_028510 disease phenotype-associated VAR_028510 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028511 commonName VAR_028511 VAR_028511 disease phenotype-associated VAR_028511 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028512 commonName VAR_028512 VAR_028512 disease phenotype-associated VAR_028512 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028513 commonName VAR_028513 VAR_028513 disease phenotype-associated VAR_028513 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028515 commonName VAR_028515 VAR_028515 disease phenotype-associated VAR_028515 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028516 commonName VAR_028516 VAR_028516 disease phenotype-associated VAR_028516 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028517 commonName VAR_028517 VAR_028517 disease phenotype-associated VAR_028517 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028518 commonName VAR_028518 VAR_028518 disease phenotype-associated VAR_028518 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028519 commonName VAR_028519 VAR_028519 disease phenotype-associated VAR_028519 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028520 commonName VAR_028520 VAR_028520 disease phenotype-associated VAR_028520 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028521 commonName VAR_028521 VAR_028521 disease phenotype-associated VAR_028521 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028522 commonName VAR_028522 VAR_028522 disease phenotype-associated VAR_028522 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028523 commonName VAR_028523 VAR_028523 disease phenotype-associated VAR_028523 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028524 commonName VAR_028524 VAR_028524 disease phenotype-associated VAR_028524 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028525 commonName VAR_028525 VAR_028525 disease phenotype-associated VAR_028525 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028526 commonName VAR_028526 VAR_028526 disease phenotype-associated VAR_028526 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028527 commonName VAR_028527 VAR_028527 disease phenotype-associated VAR_028527 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028528 commonName VAR_028528 VAR_028528 disease phenotype-associated VAR_028528 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028529 commonName VAR_028529 VAR_028529 disease phenotype-associated VAR_028529 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028530 commonName VAR_028530 VAR_028530 disease phenotype-associated VAR_028530 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028531 commonName VAR_028531 VAR_028531 disease phenotype-associated VAR_028531 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028532 commonName VAR_028532 VAR_028532 disease phenotype-associated VAR_028532 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028533 commonName VAR_028533 VAR_028533 disease phenotype-associated VAR_028533 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028534 commonName VAR_028534 VAR_028534 disease phenotype-associated VAR_028534 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028535 commonName VAR_028535 VAR_028535 disease phenotype-associated VAR_028535 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028536 commonName VAR_028536 VAR_028536 disease phenotype-associated VAR_028536 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028537 commonName VAR_028537 VAR_028537 disease phenotype-associated VAR_028537 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028538 commonName VAR_028538 VAR_028538 disease phenotype-associated VAR_028538 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028539 commonName VAR_028539 VAR_028539 disease phenotype-associated VAR_028539 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028540 commonName VAR_028540 VAR_028540 disease phenotype-associated VAR_028540 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028541 commonName VAR_028541 VAR_028541 disease phenotype-associated VAR_028541 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028542 commonName VAR_028542 VAR_028542 disease phenotype-associated VAR_028542 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028543 commonName VAR_028543 VAR_028543 disease phenotype-associated VAR_028543 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028544 commonName VAR_028544 VAR_028544 disease phenotype-associated VAR_028544 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028545 commonName VAR_028545 VAR_028545 disease phenotype-associated VAR_028545 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028546 commonName VAR_028546 VAR_028546 disease phenotype-associated VAR_028546 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028547 commonName VAR_028547 VAR_028547 disease phenotype-associated VAR_028547 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028548 commonName VAR_028548 VAR_028548 disease phenotype-associated VAR_028548 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028549 commonName VAR_028549 VAR_028549 disease phenotype-associated VAR_028549 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028550 commonName VAR_028550 VAR_028550 disease phenotype-associated VAR_028550 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028551 commonName VAR_028551 VAR_028551 disease phenotype-associated VAR_028551 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028552 commonName VAR_028552 VAR_028552 disease phenotype-associated VAR_028552 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028553 commonName VAR_028553 VAR_028553 disease phenotype-associated VAR_028553 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028554 commonName VAR_028554 VAR_028554 disease phenotype-associated VAR_028554 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028555 commonName VAR_028555 VAR_028555 disease phenotype-associated VAR_028555 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028556 commonName VAR_028556 VAR_028556 disease phenotype-associated VAR_028556 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028557 commonName VAR_028557 VAR_028557 disease phenotype-associated VAR_028557 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028558 commonName VAR_028558 VAR_028558 disease phenotype-associated VAR_028558 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028559 commonName VAR_028559 VAR_028559 disease phenotype-associated VAR_028559 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028560 commonName VAR_028560 VAR_028560 disease phenotype-associated VAR_028560 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028561 commonName VAR_028561 VAR_028561 disease phenotype-associated VAR_028561 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028562 commonName VAR_028562 VAR_028562 disease phenotype-associated VAR_028562 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028563 commonName VAR_028563 VAR_028563 disease phenotype-associated VAR_028563 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028564 commonName VAR_028564 VAR_028564 disease phenotype-associated VAR_028564 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028565 commonName VAR_028565 VAR_028565 disease phenotype-associated VAR_028565 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028566 commonName VAR_028566 VAR_028566 disease phenotype-associated VAR_028566 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028567 commonName VAR_028567 VAR_028567 disease phenotype-associated VAR_028567 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028568 commonName VAR_028568 VAR_028568 disease phenotype-associated VAR_028568 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028569 commonName VAR_028569 VAR_028569 disease phenotype-associated VAR_028569 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028570 commonName VAR_028570 VAR_028570 disease phenotype-associated VAR_028570 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028571 commonName VAR_028571 VAR_028571 disease phenotype-associated VAR_028571 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028572 commonName VAR_028572 VAR_028572 disease phenotype-associated VAR_028572 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028573 commonName VAR_028573 VAR_028573 disease phenotype-associated VAR_028573 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028574 commonName VAR_028574 VAR_028574 disease phenotype-associated VAR_028574 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028575 commonName VAR_028575 VAR_028575 disease phenotype-associated VAR_028575 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028576 commonName VAR_028576 VAR_028576 disease phenotype-associated VAR_028576 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028577 commonName VAR_028577 VAR_028577 disease phenotype-associated VAR_028577 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028578 commonName VAR_028578 VAR_028578 disease phenotype-associated VAR_028578 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028579 commonName VAR_028579 VAR_028579 disease phenotype-associated VAR_028579 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028580 commonName VAR_028580 VAR_028580 disease phenotype-associated VAR_028580 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028581 commonName VAR_028581 VAR_028581 disease phenotype-associated VAR_028581 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028582 commonName VAR_028582 VAR_028582 disease phenotype-associated VAR_028582 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028583 commonName VAR_028583 VAR_028583 disease phenotype-associated VAR_028583 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028584 commonName VAR_028584 VAR_028584 disease phenotype-associated VAR_028584 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028585 commonName VAR_028585 VAR_028585 disease phenotype-associated VAR_028585 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028586 commonName VAR_028586 VAR_028586 disease phenotype-associated VAR_028586 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028587 commonName VAR_028587 VAR_028587 disease phenotype-associated VAR_028587 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028588 commonName VAR_028588 VAR_028588 disease phenotype-associated VAR_028588 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028589 commonName VAR_028589 VAR_028589 disease phenotype-associated VAR_028589 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028590 commonName VAR_028590 VAR_028590 disease phenotype-associated VAR_028590 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028591 commonName VAR_028591 VAR_028591 disease phenotype-associated VAR_028591 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028592 commonName VAR_028592 VAR_028592 disease phenotype-associated VAR_028592 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028593 commonName VAR_028593 VAR_028593 disease phenotype-associated VAR_028593 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028594 commonName VAR_028594 VAR_028594 disease phenotype-associated VAR_028594 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028595 commonName VAR_028595 VAR_028595 disease phenotype-associated VAR_028595 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028596 commonName VAR_028596 VAR_028596 disease phenotype-associated VAR_028596 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028597 commonName VAR_028597 VAR_028597 disease phenotype-associated VAR_028597 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028598 commonName VAR_028598 VAR_028598 disease phenotype-associated VAR_028598 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028599 commonName VAR_028599 VAR_028599 disease phenotype-associated VAR_028599 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028600 commonName VAR_028600 VAR_028600 disease phenotype-associated VAR_028600 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028601 commonName VAR_028601 VAR_028601 disease phenotype-associated VAR_028601 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028602 commonName VAR_028602 VAR_028602 disease phenotype-associated VAR_028602 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028603 commonName VAR_028603 VAR_028603 disease phenotype-associated VAR_028603 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028604 commonName VAR_028604 VAR_028604 disease phenotype-associated VAR_028604 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028605 commonName VAR_028605 VAR_028605 disease phenotype-associated VAR_028605 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028606 commonName VAR_028606 VAR_028606 disease phenotype-associated VAR_028606 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028607 commonName VAR_028607 VAR_028607 disease phenotype-associated VAR_028607 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028608 commonName VAR_028608 VAR_028608 disease phenotype-associated VAR_028608 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028609 commonName VAR_028609 VAR_028609 disease phenotype-associated VAR_028609 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028610 commonName VAR_028610 VAR_028610 disease phenotype-associated VAR_028610 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028611 commonName VAR_028611 VAR_028611 disease phenotype-associated VAR_028611 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028612 commonName VAR_028612 VAR_028612 disease phenotype-associated VAR_028612 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028613 commonName VAR_028613 VAR_028613 disease phenotype-associated VAR_028613 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028614 commonName VAR_028614 VAR_028614 disease phenotype-associated VAR_028614 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028615 commonName VAR_028615 VAR_028615 disease phenotype-associated VAR_028615 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028616 commonName VAR_028616 VAR_028616 disease phenotype-associated VAR_028616 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028617 commonName VAR_028617 VAR_028617 disease phenotype-associated VAR_028617 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028618 commonName VAR_028618 VAR_028618 disease phenotype-associated VAR_028618 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028619 commonName VAR_028619 VAR_028619 disease phenotype-associated VAR_028619 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028620 commonName VAR_028620 VAR_028620 disease phenotype-associated VAR_028620 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028621 commonName VAR_028621 VAR_028621 disease phenotype-associated VAR_028621 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028622 commonName VAR_028622 VAR_028622 disease phenotype-associated VAR_028622 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028623 commonName VAR_028623 VAR_028623 disease phenotype-associated VAR_028623 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028624 commonName VAR_028624 VAR_028624 disease phenotype-associated VAR_028624 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028625 commonName VAR_028625 VAR_028625 disease phenotype-associated VAR_028625 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028626 commonName VAR_028626 VAR_028626 disease phenotype-associated VAR_028626 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028627 commonName VAR_028627 VAR_028627 disease phenotype-associated VAR_028627 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028628 commonName VAR_028628 VAR_028628 disease phenotype-associated VAR_028628 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028629 commonName VAR_028629 VAR_028629 disease phenotype-associated VAR_028629 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028630 commonName VAR_028630 VAR_028630 disease phenotype-associated VAR_028630 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028631 commonName VAR_028631 VAR_028631 disease phenotype-associated VAR_028631 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028632 commonName VAR_028632 VAR_028632 disease phenotype-associated VAR_028632 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028633 commonName VAR_028633 VAR_028633 disease phenotype-associated VAR_028633 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028634 commonName VAR_028634 VAR_028634 disease phenotype-associated VAR_028634 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028635 commonName VAR_028635 VAR_028635 disease phenotype-associated VAR_028635 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028636 commonName VAR_028636 VAR_028636 disease phenotype-associated VAR_028636 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028637 commonName VAR_028637 VAR_028637 disease phenotype-associated VAR_028637 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028638 commonName VAR_028638 VAR_028638 disease phenotype-associated VAR_028638 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028639 commonName VAR_028639 VAR_028639 disease phenotype-associated VAR_028639 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028640 commonName VAR_028640 VAR_028641 commonName VAR_028641 VAR_028641 disease phenotype-associated VAR_028641 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028642 commonName VAR_028642 VAR_028642 disease phenotype-associated VAR_028642 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028643 commonName VAR_028643 VAR_028643 disease phenotype-associated VAR_028643 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028644 commonName VAR_028644 VAR_028644 disease phenotype-associated VAR_028644 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028645 commonName VAR_028645 VAR_028645 disease phenotype-associated VAR_028645 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028646 commonName VAR_028646 VAR_028646 disease phenotype-associated VAR_028646 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028647 commonName VAR_028647 VAR_028647 disease phenotype-associated VAR_028647 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028648 commonName VAR_028648 VAR_028648 disease phenotype-associated VAR_028648 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028649 commonName VAR_028649 VAR_028649 disease phenotype-associated VAR_028649 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028650 commonName VAR_028650 VAR_028650 disease phenotype-associated VAR_028650 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028651 commonName VAR_028651 VAR_028651 disease phenotype-associated VAR_028651 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028652 commonName VAR_028652 VAR_028652 disease phenotype-associated VAR_028652 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028653 commonName VAR_028653 VAR_028653 disease phenotype-associated VAR_028653 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028654 commonName VAR_028654 VAR_028654 disease phenotype-associated VAR_028654 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028655 commonName VAR_028655 VAR_028655 disease phenotype-associated VAR_028655 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028656 commonName VAR_028656 VAR_028656 disease phenotype-associated VAR_028656 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028657 commonName VAR_028657 VAR_028657 disease phenotype-associated VAR_028657 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028658 commonName VAR_028658 VAR_028658 disease phenotype-associated VAR_028658 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028659 commonName VAR_028659 VAR_028659 disease phenotype-associated VAR_028659 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028660 commonName VAR_028660 VAR_028660 disease phenotype-associated VAR_028660 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028661 commonName VAR_028661 VAR_028661 disease phenotype-associated VAR_028661 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028662 commonName VAR_028662 VAR_028662 disease phenotype-associated VAR_028662 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028663 commonName VAR_028663 VAR_028663 disease phenotype-associated VAR_028663 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028664 commonName VAR_028664 VAR_028664 disease phenotype-associated VAR_028664 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028665 commonName VAR_028665 VAR_028665 disease phenotype-associated VAR_028665 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028666 commonName VAR_028666 VAR_028666 disease phenotype-associated VAR_028666 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028667 commonName VAR_028667 VAR_028667 disease phenotype-associated VAR_028667 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028668 commonName VAR_028668 VAR_028668 disease phenotype-associated VAR_028668 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028669 commonName VAR_028669 VAR_028669 disease phenotype-associated VAR_028669 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028670 commonName VAR_028670 VAR_028670 disease phenotype-associated VAR_028670 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028671 commonName VAR_028671 VAR_028671 disease phenotype-associated VAR_028671 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028672 commonName VAR_028672 VAR_028672 disease phenotype-associated VAR_028672 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028673 commonName VAR_028673 VAR_028673 disease phenotype-associated VAR_028673 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028674 commonName VAR_028674 VAR_028674 disease phenotype-associated VAR_028674 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028675 commonName VAR_028675 VAR_028675 disease phenotype-associated VAR_028675 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028676 commonName VAR_028676 VAR_028676 disease phenotype-associated VAR_028676 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028677 commonName VAR_028677 VAR_028677 disease phenotype-associated VAR_028677 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028678 commonName VAR_028678 VAR_028678 disease phenotype-associated VAR_028678 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028679 commonName VAR_028679 VAR_028679 disease phenotype-associated VAR_028679 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028680 commonName VAR_028680 VAR_028680 disease phenotype-associated VAR_028680 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028681 commonName VAR_028681 VAR_028681 disease phenotype-associated VAR_028681 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028682 commonName VAR_028682 VAR_028682 disease phenotype-associated VAR_028682 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028683 commonName VAR_028683 VAR_028683 disease phenotype-associated VAR_028683 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028684 commonName VAR_028684 VAR_028684 disease phenotype-associated VAR_028684 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028685 commonName VAR_028685 VAR_028685 disease phenotype-associated VAR_028685 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028686 commonName VAR_028686 VAR_028686 disease phenotype-associated VAR_028686 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028687 commonName VAR_028687 VAR_028687 disease phenotype-associated VAR_028687 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028688 commonName VAR_028688 VAR_028688 disease phenotype-associated VAR_028688 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028689 commonName VAR_028689 VAR_028689 disease phenotype-associated VAR_028689 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028690 commonName VAR_028690 VAR_028690 disease phenotype-associated VAR_028690 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028691 commonName VAR_028691 VAR_028691 disease phenotype-associated VAR_028691 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028692 commonName VAR_028692 VAR_028692 disease phenotype-associated VAR_028692 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028693 commonName VAR_028693 VAR_028693 disease phenotype-associated VAR_028693 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028695 commonName VAR_028695 VAR_028695 disease phenotype-associated VAR_028695 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028696 commonName VAR_028696 VAR_028696 disease phenotype-associated VAR_028696 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028697 commonName VAR_028697 VAR_028697 disease phenotype-associated VAR_028697 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028698 commonName VAR_028698 VAR_028698 disease phenotype-associated VAR_028698 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028699 commonName VAR_028699 VAR_028699 disease phenotype-associated VAR_028699 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028700 commonName VAR_028700 VAR_028700 disease phenotype-associated VAR_028700 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028701 commonName VAR_028701 VAR_028701 disease phenotype-associated VAR_028701 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028702 commonName VAR_028702 VAR_028702 disease phenotype-associated VAR_028702 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028703 commonName VAR_028703 VAR_028703 disease phenotype-associated VAR_028703 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028704 commonName VAR_028704 VAR_028704 disease phenotype-associated VAR_028704 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028705 commonName VAR_028705 VAR_028705 disease phenotype-associated VAR_028705 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028706 commonName VAR_028706 VAR_028706 disease phenotype-associated VAR_028706 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028707 commonName VAR_028707 VAR_028707 disease phenotype-associated VAR_028707 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028708 commonName VAR_028708 VAR_028708 disease phenotype-associated VAR_028708 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028709 commonName VAR_028709 VAR_028709 disease phenotype-associated VAR_028709 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028710 commonName VAR_028710 VAR_028710 disease phenotype-associated VAR_028710 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028711 commonName VAR_028711 VAR_028711 disease phenotype-associated VAR_028711 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028712 commonName VAR_028712 VAR_028712 disease phenotype-associated VAR_028712 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028713 commonName VAR_028713 VAR_028713 disease phenotype-associated VAR_028713 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028714 commonName VAR_028714 VAR_028714 disease phenotype-associated VAR_028714 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028715 commonName VAR_028715 VAR_028715 disease phenotype-associated VAR_028715 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028716 commonName VAR_028716 VAR_028716 disease phenotype-associated VAR_028716 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_028717 commonName VAR_028717 VAR_028717 disease not phenotype-associated VAR_028718 commonName VAR_028718 VAR_028718 disease not phenotype-associated VAR_028719 commonName VAR_028719 VAR_028719 disease not phenotype-associated VAR_028720 commonName VAR_028720 VAR_028720 disease not phenotype-associated VAR_028721 commonName VAR_028721 VAR_028721 disease not phenotype-associated VAR_028722 commonName VAR_028722 VAR_028722 disease not phenotype-associated VAR_028724 commonName VAR_028724 VAR_028724 disease not phenotype-associated VAR_028725 commonName VAR_028725 VAR_028725 disease not phenotype-associated VAR_028726 commonName VAR_028726 VAR_028726 disease not phenotype-associated VAR_028727 commonName VAR_028727 VAR_028727 disease not phenotype-associated VAR_028728 commonName VAR_028728 VAR_028728 disease not phenotype-associated VAR_028729 commonName VAR_028729 VAR_028729 disease not phenotype-associated VAR_028731 commonName VAR_028731 VAR_028731 disease not phenotype-associated VAR_028735 commonName VAR_028735 VAR_028735 disease not phenotype-associated VAR_028736 commonName VAR_028736 VAR_028736 disease phenotype-associated VAR_028736 phenoCommon Primary open angle glaucoma (POAG) [MIM:137760] VAR_028737 commonName VAR_028737 VAR_028737 disease not phenotype-associated VAR_028738 commonName VAR_028738 VAR_028738 disease not phenotype-associated VAR_028739 commonName VAR_028739 VAR_028739 disease not phenotype-associated VAR_028740 commonName VAR_028740 VAR_028740 disease not phenotype-associated VAR_028741 commonName VAR_028741 VAR_028741 disease not phenotype-associated VAR_028742 commonName VAR_028742 VAR_028742 disease not phenotype-associated VAR_028743 commonName VAR_028743 VAR_028743 disease not phenotype-associated VAR_028744 commonName VAR_028744 VAR_028744 disease not phenotype-associated VAR_028745 commonName VAR_028745 VAR_028745 disease not phenotype-associated VAR_028746 commonName VAR_028746 VAR_028746 disease not phenotype-associated VAR_028748 commonName VAR_028748 VAR_028748 disease not phenotype-associated VAR_028749 commonName VAR_028749 VAR_028749 disease not phenotype-associated VAR_028750 commonName VAR_028750 VAR_028750 disease not phenotype-associated VAR_028751 commonName VAR_028751 VAR_028751 disease not phenotype-associated VAR_028752 commonName VAR_028752 VAR_028752 disease phenotype-associated VAR_028752 phenoCommon Pileptic encephalopathy, early infantile, type 8 (EIEE8) [MIM:300607] VAR_028753 commonName VAR_028753 VAR_028753 disease not phenotype-associated VAR_028754 commonName VAR_028754 VAR_028754 disease not phenotype-associated VAR_028755 commonName VAR_028755 VAR_028755 disease not phenotype-associated VAR_028756 commonName VAR_028756 VAR_028756 disease not phenotype-associated VAR_028757 commonName VAR_028757 VAR_028757 disease phenotype-associated VAR_028757 phenoCommon Premature ovarian failure type 2B (POF2B) [MIM:300604] VAR_028758 commonName VAR_028758 VAR_028758 disease not phenotype-associated VAR_028759 commonName VAR_028759 VAR_028759 disease not phenotype-associated VAR_028760 commonName VAR_028760 VAR_028760 disease not phenotype-associated VAR_028761 commonName VAR_028761 VAR_028761 disease not phenotype-associated VAR_028762 commonName VAR_028762 VAR_028762 disease not phenotype-associated VAR_028763 commonName VAR_028763 VAR_028763 disease not phenotype-associated VAR_028764 commonName VAR_028764 VAR_028764 disease not phenotype-associated VAR_028765 commonName VAR_028765 VAR_028765 disease not phenotype-associated VAR_028766 commonName VAR_028766 VAR_028766 disease not phenotype-associated VAR_028769 commonName VAR_028769 VAR_028769 disease not phenotype-associated VAR_028770 commonName VAR_028770 VAR_028770 disease not phenotype-associated VAR_028771 commonName VAR_028771 VAR_028771 disease not phenotype-associated VAR_028772 commonName VAR_028772 VAR_028772 disease not phenotype-associated VAR_028773 commonName VAR_028773 VAR_028773 disease not phenotype-associated VAR_028777 commonName VAR_028777 VAR_028777 disease phenotype-associated VAR_028777 phenoCommon GNAS hyperfunction (GNASHYP) [MIM:139320] VAR_028779 commonName VAR_028779 VAR_028779 disease phenotype-associated VAR_028779 phenoCommon GNAS hyperfunction (GNASHYP) [MIM:139320] VAR_028780 commonName VAR_028780 VAR_028780 disease not phenotype-associated VAR_028783 commonName VAR_028783 VAR_028783 disease not phenotype-associated VAR_028784 commonName VAR_028784 VAR_028784 disease not phenotype-associated VAR_028785 commonName VAR_028785 VAR_028785 disease not phenotype-associated VAR_028786 commonName VAR_028786 VAR_028786 disease not phenotype-associated VAR_028787 commonName VAR_028787 VAR_028787 disease not phenotype-associated VAR_028788 commonName VAR_028788 VAR_028788 disease not phenotype-associated VAR_028789 commonName VAR_028789 VAR_028789 disease not phenotype-associated VAR_028790 commonName VAR_028790 VAR_028790 disease not phenotype-associated VAR_028791 commonName VAR_028791 VAR_028791 disease not phenotype-associated VAR_028792 commonName VAR_028792 VAR_028792 disease not phenotype-associated VAR_028793 commonName VAR_028793 VAR_028793 disease not phenotype-associated VAR_028795 commonName VAR_028795 VAR_028795 disease not phenotype-associated VAR_028796 commonName VAR_028796 VAR_028796 disease not phenotype-associated VAR_028797 commonName VAR_028797 VAR_028797 disease not phenotype-associated VAR_028798 commonName VAR_028798 VAR_028798 disease not phenotype-associated VAR_028799 commonName VAR_028799 VAR_028799 disease not phenotype-associated VAR_028800 commonName VAR_028800 VAR_028800 disease not phenotype-associated VAR_028801 commonName VAR_028801 VAR_028801 disease not phenotype-associated VAR_028802 commonName VAR_028802 VAR_028802 disease not phenotype-associated VAR_028808 commonName VAR_028808 VAR_028808 disease not phenotype-associated VAR_028809 commonName VAR_028809 VAR_028809 disease not phenotype-associated VAR_028810 commonName VAR_028810 VAR_028810 disease not phenotype-associated VAR_028811 commonName VAR_028811 VAR_028811 disease not phenotype-associated VAR_028815 commonName VAR_028815 VAR_028815 disease not phenotype-associated VAR_028816 commonName VAR_028816 VAR_028816 disease not phenotype-associated VAR_028817 commonName VAR_028817 VAR_028817 disease not phenotype-associated VAR_028818 commonName VAR_028818 VAR_028818 disease not phenotype-associated VAR_028819 commonName VAR_028819 VAR_028819 disease not phenotype-associated VAR_028820 commonName VAR_028820 VAR_028820 disease not phenotype-associated VAR_028821 commonName VAR_028821 VAR_028821 disease not phenotype-associated VAR_028822 commonName VAR_028822 VAR_028822 disease not phenotype-associated VAR_028823 commonName VAR_028823 VAR_028823 disease not phenotype-associated VAR_028825 commonName VAR_028825 VAR_028825 disease not phenotype-associated VAR_028826 commonName VAR_028826 VAR_028826 disease not phenotype-associated VAR_028827 commonName VAR_028827 VAR_028827 disease not phenotype-associated VAR_028828 commonName VAR_028828 VAR_028828 disease not phenotype-associated VAR_028829 commonName VAR_028829 VAR_028829 disease not phenotype-associated VAR_028830 commonName VAR_028830 VAR_028830 disease not phenotype-associated VAR_028831 commonName VAR_028831 VAR_028831 disease not phenotype-associated VAR_028832 commonName VAR_028832 VAR_028832 disease not phenotype-associated VAR_028835 commonName VAR_028835 VAR_028835 disease not phenotype-associated VAR_028836 commonName VAR_028836 VAR_028836 disease not phenotype-associated VAR_028837 commonName VAR_028837 VAR_028837 disease not phenotype-associated VAR_028838 commonName VAR_028838 VAR_028838 disease not phenotype-associated VAR_028840 commonName VAR_028840 VAR_028840 disease not phenotype-associated VAR_028841 commonName VAR_028841 VAR_028841 disease not phenotype-associated VAR_028842 commonName VAR_028842 VAR_028842 disease not phenotype-associated VAR_028843 commonName VAR_028843 VAR_028843 disease not phenotype-associated VAR_028844 commonName VAR_028844 VAR_028844 disease not phenotype-associated VAR_028845 commonName VAR_028845 VAR_028845 disease not phenotype-associated VAR_028846 commonName VAR_028846 VAR_028846 disease not phenotype-associated VAR_028847 commonName VAR_028847 VAR_028847 disease not phenotype-associated VAR_028848 commonName VAR_028848 VAR_028848 disease not phenotype-associated VAR_028849 commonName VAR_028849 VAR_028849 disease not phenotype-associated VAR_028850 commonName VAR_028850 VAR_028850 disease not phenotype-associated VAR_028851 commonName VAR_028851 VAR_028851 disease not phenotype-associated VAR_028853 commonName VAR_028853 VAR_028853 disease not phenotype-associated VAR_028854 commonName VAR_028854 VAR_028854 disease not phenotype-associated VAR_028855 commonName VAR_028855 VAR_028855 disease not phenotype-associated VAR_028856 commonName VAR_028856 VAR_028856 disease not phenotype-associated VAR_028857 commonName VAR_028857 VAR_028857 disease not phenotype-associated VAR_028858 commonName VAR_028858 VAR_028858 disease not phenotype-associated VAR_028859 commonName VAR_028859 VAR_028859 disease not phenotype-associated VAR_028860 commonName VAR_028860 VAR_028860 disease not phenotype-associated VAR_028861 commonName VAR_028861 VAR_028861 disease not phenotype-associated VAR_028862 commonName VAR_028862 VAR_028862 disease not phenotype-associated VAR_028864 commonName VAR_028864 VAR_028864 disease not phenotype-associated VAR_028865 commonName VAR_028865 VAR_028865 disease not phenotype-associated VAR_028866 commonName VAR_028866 VAR_028866 disease not phenotype-associated VAR_028867 commonName VAR_028867 VAR_028867 disease not phenotype-associated VAR_028868 commonName VAR_028868 VAR_028868 disease not phenotype-associated VAR_028869 commonName VAR_028869 VAR_028869 disease not phenotype-associated VAR_028875 commonName VAR_028875 VAR_028875 disease not phenotype-associated VAR_028876 commonName VAR_028876 VAR_028876 disease not phenotype-associated VAR_028877 commonName VAR_028877 VAR_028877 disease not phenotype-associated VAR_028878 commonName VAR_028878 VAR_028878 disease not phenotype-associated VAR_028879 commonName VAR_028879 VAR_028879 disease not phenotype-associated VAR_028880 commonName VAR_028880 VAR_028880 disease not phenotype-associated VAR_028881 commonName VAR_028881 VAR_028881 disease not phenotype-associated VAR_028883 commonName VAR_028883 VAR_028883 disease not phenotype-associated VAR_028885 commonName VAR_028885 VAR_028885 disease not phenotype-associated VAR_028886 commonName VAR_028886 VAR_028886 disease not phenotype-associated VAR_028888 commonName VAR_028888 VAR_028888 disease not phenotype-associated VAR_028889 commonName VAR_028889 VAR_028889 disease not phenotype-associated VAR_028890 commonName VAR_028890 VAR_028890 disease not phenotype-associated VAR_028891 commonName VAR_028891 VAR_028891 disease not phenotype-associated VAR_028892 commonName VAR_028892 VAR_028892 disease not phenotype-associated VAR_028893 commonName VAR_028893 VAR_028893 disease not phenotype-associated VAR_028894 commonName VAR_028894 VAR_028894 disease not phenotype-associated VAR_028895 commonName VAR_028895 VAR_028895 disease not phenotype-associated VAR_028896 commonName VAR_028896 VAR_028896 disease not phenotype-associated VAR_028897 commonName VAR_028897 VAR_028897 disease not phenotype-associated VAR_028898 commonName VAR_028898 VAR_028898 disease not phenotype-associated VAR_028899 commonName VAR_028899 VAR_028899 disease not phenotype-associated VAR_028900 commonName VAR_028900 VAR_028900 disease not phenotype-associated VAR_028901 commonName VAR_028901 VAR_028901 disease not phenotype-associated VAR_028902 commonName VAR_028902 VAR_028902 disease not phenotype-associated VAR_028903 commonName VAR_028903 VAR_028903 disease not phenotype-associated VAR_028904 commonName VAR_028904 VAR_028904 disease not phenotype-associated VAR_028905 commonName VAR_028905 VAR_028905 disease not phenotype-associated VAR_028906 commonName VAR_028906 VAR_028906 disease not phenotype-associated VAR_028907 commonName VAR_028907 VAR_028907 disease not phenotype-associated VAR_028908 commonName VAR_028908 VAR_028908 disease not phenotype-associated VAR_028909 commonName VAR_028909 VAR_028909 disease not phenotype-associated VAR_028910 commonName VAR_028910 VAR_028910 disease not phenotype-associated VAR_028911 commonName VAR_028911 VAR_028911 disease not phenotype-associated VAR_028912 commonName VAR_028912 VAR_028912 disease not phenotype-associated VAR_028913 commonName VAR_028913 VAR_028913 disease not phenotype-associated VAR_028914 commonName VAR_028914 VAR_028914 disease not phenotype-associated VAR_028915 commonName VAR_028915 VAR_028915 disease not phenotype-associated VAR_028916 commonName VAR_028916 VAR_028916 disease not phenotype-associated VAR_028917 commonName VAR_028917 VAR_028917 disease not phenotype-associated VAR_028918 commonName VAR_028918 VAR_028918 disease not phenotype-associated VAR_028919 commonName VAR_028919 VAR_028919 disease not phenotype-associated VAR_028920 commonName VAR_028920 VAR_028920 disease not phenotype-associated VAR_028921 commonName VAR_028921 VAR_028921 disease phenotype-associated VAR_028921 phenoCommon Premature chromatid separation trait (PCS) [MIM:176430] VAR_028922 commonName VAR_028922 VAR_028922 disease not phenotype-associated VAR_028930 commonName VAR_028930 VAR_028930 disease not phenotype-associated VAR_028931 commonName VAR_028931 VAR_028931 disease not phenotype-associated VAR_028932 commonName VAR_028932 VAR_028932 disease not phenotype-associated VAR_028933 commonName VAR_028933 VAR_028933 disease not phenotype-associated VAR_028934 commonName VAR_028934 VAR_028934 disease not phenotype-associated VAR_028935 commonName VAR_028935 VAR_028935 disease not phenotype-associated VAR_028936 commonName VAR_028936 VAR_028936 disease not phenotype-associated VAR_028937 commonName VAR_028937 VAR_028937 disease not phenotype-associated VAR_028938 commonName VAR_028938 VAR_028938 disease not phenotype-associated VAR_028940 commonName VAR_028940 VAR_028940 disease not phenotype-associated VAR_028941 commonName VAR_028941 VAR_028941 disease not phenotype-associated VAR_028942 commonName VAR_028942 VAR_028942 disease not phenotype-associated VAR_028943 commonName VAR_028943 VAR_028943 disease not phenotype-associated VAR_028944 commonName VAR_028944 VAR_028944 disease not phenotype-associated VAR_028945 commonName VAR_028945 VAR_028945 disease not phenotype-associated VAR_028946 commonName VAR_028946 VAR_028946 disease not phenotype-associated VAR_028947 commonName VAR_028947 VAR_028947 disease not phenotype-associated VAR_028948 commonName VAR_028948 VAR_028948 disease not phenotype-associated VAR_028950 commonName VAR_028950 VAR_028950 disease not phenotype-associated VAR_028951 commonName VAR_028951 VAR_028951 disease phenotype-associated VAR_028951 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] VAR_028952 commonName VAR_028952 VAR_028952 disease phenotype-associated VAR_028952 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] VAR_028953 commonName VAR_028953 VAR_028953 disease phenotype-associated VAR_028953 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] VAR_028954 commonName VAR_028954 VAR_028954 disease phenotype-associated VAR_028954 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] VAR_028955 commonName VAR_028955 VAR_028955 disease phenotype-associated VAR_028955 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] VAR_028956 commonName VAR_028956 VAR_028956 disease phenotype-associated VAR_028956 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] VAR_028957 commonName VAR_028957 VAR_028957 disease phenotype-associated VAR_028957 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] VAR_028958 commonName VAR_028958 VAR_028958 disease phenotype-associated VAR_028958 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] VAR_028959 commonName VAR_028959 VAR_028959 disease not phenotype-associated VAR_028960 commonName VAR_028960 VAR_028960 disease phenotype-associated VAR_028960 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] VAR_028961 commonName VAR_028961 VAR_028961 disease phenotype-associated VAR_028961 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] VAR_028962 commonName VAR_028962 VAR_028962 disease not phenotype-associated VAR_028963 commonName VAR_028963 VAR_028963 disease not phenotype-associated VAR_028964 commonName VAR_028964 VAR_028964 disease not phenotype-associated VAR_028965 commonName VAR_028965 VAR_028965 disease not phenotype-associated VAR_028967 commonName VAR_028967 VAR_028967 disease not phenotype-associated VAR_028968 commonName VAR_028968 VAR_028968 disease not phenotype-associated VAR_028969 commonName VAR_028969 VAR_028969 disease not phenotype-associated VAR_028970 commonName VAR_028970 VAR_028970 disease not phenotype-associated VAR_028971 commonName VAR_028971 VAR_028971 disease not phenotype-associated VAR_028972 commonName VAR_028972 VAR_028972 disease not phenotype-associated VAR_028973 commonName VAR_028973 VAR_028973 disease not phenotype-associated VAR_028974 commonName VAR_028974 VAR_028974 disease not phenotype-associated VAR_028975 commonName VAR_028975 VAR_028975 disease not phenotype-associated VAR_028976 commonName VAR_028976 VAR_028976 disease not phenotype-associated VAR_028979 commonName VAR_028979 VAR_028979 disease not phenotype-associated VAR_028980 commonName VAR_028980 VAR_028980 disease not phenotype-associated VAR_028981 commonName VAR_028981 VAR_028981 disease not phenotype-associated VAR_028982 commonName VAR_028982 VAR_028982 disease not phenotype-associated VAR_028983 commonName VAR_028983 VAR_028983 disease not phenotype-associated VAR_028984 commonName VAR_028984 VAR_028984 disease not phenotype-associated VAR_028985 commonName VAR_028985 VAR_028985 disease not phenotype-associated VAR_028986 commonName VAR_028986 VAR_028986 disease not phenotype-associated VAR_028987 commonName VAR_028987 VAR_028987 disease not phenotype-associated VAR_028988 commonName VAR_028988 VAR_028988 disease not phenotype-associated VAR_028989 commonName VAR_028989 VAR_028989 disease not phenotype-associated VAR_028990 commonName VAR_028990 VAR_028990 disease not phenotype-associated VAR_028991 commonName VAR_028991 VAR_028991 disease not phenotype-associated VAR_028992 commonName VAR_028992 VAR_028992 disease not phenotype-associated VAR_028993 commonName VAR_028993 VAR_028993 disease not phenotype-associated VAR_028994 commonName VAR_028994 VAR_028994 disease not phenotype-associated VAR_028995 commonName VAR_028995 VAR_028995 disease not phenotype-associated VAR_028996 commonName VAR_028996 VAR_028996 disease not phenotype-associated VAR_028997 commonName VAR_028997 VAR_028997 disease not phenotype-associated VAR_028998 commonName VAR_028998 VAR_028998 disease not phenotype-associated VAR_028999 commonName VAR_028999 VAR_028999 disease not phenotype-associated VAR_029000 commonName VAR_029000 VAR_029000 disease not phenotype-associated VAR_029001 commonName VAR_029001 VAR_029001 disease not phenotype-associated VAR_029002 commonName VAR_029002 VAR_029002 disease not phenotype-associated VAR_029003 commonName VAR_029003 VAR_029003 disease phenotype-associated VAR_029003 phenoCommon Diarrhea type 4 (DIAR4) [MIM:610370] VAR_029004 commonName VAR_029004 VAR_029004 disease phenotype-associated VAR_029004 phenoCommon Diarrhea type 4 (DIAR4) [MIM:610370] VAR_029005 commonName VAR_029005 VAR_029005 disease not phenotype-associated VAR_029006 commonName VAR_029006 VAR_029006 disease not phenotype-associated VAR_029007 commonName VAR_029007 VAR_029007 disease not phenotype-associated VAR_029008 commonName VAR_029008 VAR_029008 disease not phenotype-associated VAR_029009 commonName VAR_029009 VAR_029009 disease not phenotype-associated VAR_029011 commonName VAR_029011 VAR_029011 disease not phenotype-associated VAR_029012 commonName VAR_029012 VAR_029012 disease not phenotype-associated VAR_029013 commonName VAR_029013 VAR_029013 disease not phenotype-associated VAR_029014 commonName VAR_029014 VAR_029014 disease not phenotype-associated VAR_029015 commonName VAR_029015 VAR_029015 disease not phenotype-associated VAR_029016 commonName VAR_029016 VAR_029016 disease not phenotype-associated VAR_029017 commonName VAR_029017 VAR_029017 disease not phenotype-associated VAR_029018 commonName VAR_029018 VAR_029018 disease phenotype-associated VAR_029018 phenoCommon Cataract, zonular (CZ) [MIM:116800] VAR_029019 commonName VAR_029019 VAR_029019 disease not phenotype-associated VAR_029020 commonName VAR_029020 VAR_029020 disease not phenotype-associated VAR_029021 commonName VAR_029021 VAR_029021 disease not phenotype-associated VAR_029022 commonName VAR_029022 VAR_029022 disease not phenotype-associated VAR_029023 commonName VAR_029023 VAR_029023 disease not phenotype-associated VAR_029024 commonName VAR_029024 VAR_029024 disease not phenotype-associated VAR_029025 commonName VAR_029025 VAR_029025 disease phenotype-associated VAR_029025 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_029026 commonName VAR_029026 VAR_029026 disease phenotype-associated VAR_029026 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_029027 commonName VAR_029027 VAR_029027 disease phenotype-associated VAR_029027 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_029028 commonName VAR_029028 VAR_029028 disease phenotype-associated VAR_029028 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_029029 commonName VAR_029029 VAR_029029 disease phenotype-associated VAR_029029 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_029030 commonName VAR_029030 VAR_029030 disease phenotype-associated VAR_029030 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_029031 commonName VAR_029031 VAR_029031 disease phenotype-associated VAR_029031 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_029032 commonName VAR_029032 VAR_029032 disease phenotype-associated VAR_029032 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_029033 commonName VAR_029033 VAR_029033 disease phenotype-associated VAR_029033 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_029034 commonName VAR_029034 VAR_029034 disease phenotype-associated VAR_029034 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_029035 commonName VAR_029035 VAR_029035 disease phenotype-associated VAR_029035 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_029036 commonName VAR_029036 VAR_029036 disease phenotype-associated VAR_029036 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_029037 commonName VAR_029037 VAR_029037 disease phenotype-associated VAR_029037 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_029038 commonName VAR_029038 VAR_029038 disease phenotype-associated VAR_029038 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_029039 commonName VAR_029039 VAR_029039 disease phenotype-associated VAR_029039 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_029040 commonName VAR_029040 VAR_029040 disease phenotype-associated VAR_029040 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_029041 commonName VAR_029041 VAR_029041 disease not phenotype-associated VAR_029042 commonName VAR_029042 VAR_029042 disease not phenotype-associated VAR_029043 commonName VAR_029043 VAR_029043 disease not phenotype-associated VAR_029044 commonName VAR_029044 VAR_029044 disease not phenotype-associated VAR_029045 commonName VAR_029045 VAR_029045 disease not phenotype-associated VAR_029046 commonName VAR_029046 VAR_029046 disease not phenotype-associated VAR_029047 commonName VAR_029047 VAR_029047 disease not phenotype-associated VAR_029048 commonName VAR_029048 VAR_029048 disease not phenotype-associated VAR_029050 commonName VAR_029050 VAR_029050 disease not phenotype-associated VAR_029051 commonName VAR_029051 VAR_029051 disease not phenotype-associated VAR_029052 commonName VAR_029052 VAR_029052 disease not phenotype-associated VAR_029055 commonName VAR_029055 VAR_029055 disease not phenotype-associated VAR_029056 commonName VAR_029056 VAR_029056 disease not phenotype-associated VAR_029057 commonName VAR_029057 VAR_029057 disease not phenotype-associated VAR_029058 commonName VAR_029058 VAR_029058 disease not phenotype-associated VAR_029059 commonName VAR_029059 VAR_029059 disease not phenotype-associated VAR_029060 commonName VAR_029060 VAR_029060 disease not phenotype-associated VAR_029061 commonName VAR_029061 VAR_029061 disease not phenotype-associated VAR_029062 commonName VAR_029062 VAR_029062 disease not phenotype-associated VAR_029063 commonName VAR_029063 VAR_029063 disease not phenotype-associated VAR_029064 commonName VAR_029064 VAR_029064 disease not phenotype-associated VAR_029065 commonName VAR_029065 VAR_029065 disease not phenotype-associated VAR_029066 commonName VAR_029066 VAR_029066 disease not phenotype-associated VAR_029075 commonName VAR_029075 VAR_029075 disease phenotype-associated VAR_029075 phenoCommon Familial advanced sleep-phase syndrome (FASPS) [MIM:604348] VAR_029076 commonName VAR_029076 VAR_029076 disease not phenotype-associated VAR_029077 commonName VAR_029077 VAR_029077 disease not phenotype-associated VAR_029078 commonName VAR_029078 VAR_029078 disease not phenotype-associated VAR_029079 commonName VAR_029079 VAR_029079 disease not phenotype-associated VAR_029080 commonName VAR_029080 VAR_029080 disease phenotype-associated VAR_029080 phenoCommon Familial advanced sleep-phase syndrome (FASPS) [MIM:604348] VAR_029081 commonName VAR_029081 VAR_029081 disease not phenotype-associated VAR_029082 commonName VAR_029082 VAR_029082 disease not phenotype-associated VAR_029083 commonName VAR_029083 VAR_029083 disease not phenotype-associated VAR_029085 commonName VAR_029085 VAR_029085 disease not phenotype-associated VAR_029086 commonName VAR_029086 VAR_029086 disease not phenotype-associated VAR_029087 commonName VAR_029087 VAR_029087 disease not phenotype-associated VAR_029088 commonName VAR_029088 VAR_029088 disease not phenotype-associated VAR_029089 commonName VAR_029089 VAR_029089 disease not phenotype-associated VAR_029090 commonName VAR_029090 VAR_029090 disease not phenotype-associated VAR_029091 commonName VAR_029091 VAR_029091 disease not phenotype-associated VAR_029092 commonName VAR_029092 VAR_029092 disease not phenotype-associated VAR_029093 commonName VAR_029093 VAR_029093 disease not phenotype-associated VAR_029094 commonName VAR_029094 VAR_029094 disease not phenotype-associated VAR_029095 commonName VAR_029095 VAR_029095 disease not phenotype-associated VAR_029096 commonName VAR_029096 VAR_029096 disease not phenotype-associated VAR_029104 commonName VAR_029104 VAR_029104 disease not phenotype-associated VAR_029105 commonName VAR_029105 VAR_029105 disease not phenotype-associated VAR_029106 commonName VAR_029106 VAR_029106 disease not phenotype-associated VAR_029107 commonName VAR_029107 VAR_029107 disease not phenotype-associated VAR_029108 commonName VAR_029108 VAR_029108 disease phenotype-associated VAR_029108 phenoCommon Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474] VAR_029109 commonName VAR_029109 VAR_029109 disease not phenotype-associated VAR_029110 commonName VAR_029110 VAR_029110 disease not phenotype-associated VAR_029111 commonName VAR_029111 VAR_029111 disease not phenotype-associated VAR_029113 commonName VAR_029113 VAR_029113 disease not phenotype-associated VAR_029115 commonName VAR_029115 VAR_029115 disease not phenotype-associated VAR_029116 commonName VAR_029116 VAR_029116 disease not phenotype-associated VAR_029117 commonName VAR_029117 VAR_029117 disease not phenotype-associated VAR_029118 commonName VAR_029118 VAR_029118 disease not phenotype-associated VAR_029119 commonName VAR_029119 VAR_029119 disease not phenotype-associated VAR_029120 commonName VAR_029120 VAR_029120 disease not phenotype-associated VAR_029121 commonName VAR_029121 VAR_029121 disease not phenotype-associated VAR_029122 commonName VAR_029122 VAR_029122 disease not phenotype-associated VAR_029123 commonName VAR_029123 VAR_029123 disease not phenotype-associated VAR_029124 commonName VAR_029124 VAR_029124 disease not phenotype-associated VAR_029125 commonName VAR_029125 VAR_029125 disease not phenotype-associated VAR_029126 commonName VAR_029126 VAR_029129 commonName VAR_029129 VAR_029129 disease not phenotype-associated VAR_029131 commonName VAR_029131 VAR_029131 disease not phenotype-associated VAR_029132 commonName VAR_029132 VAR_029132 disease not phenotype-associated VAR_029133 commonName VAR_029133 VAR_029133 disease not phenotype-associated VAR_029134 commonName VAR_029134 VAR_029134 disease not phenotype-associated VAR_029135 commonName VAR_029135 VAR_029135 disease not phenotype-associated VAR_029136 commonName VAR_029136 VAR_029136 disease not phenotype-associated VAR_029137 commonName VAR_029137 VAR_029137 disease not phenotype-associated VAR_029138 commonName VAR_029138 VAR_029138 disease not phenotype-associated VAR_029139 commonName VAR_029139 VAR_029139 disease not phenotype-associated VAR_029140 commonName VAR_029140 VAR_029140 disease not phenotype-associated VAR_029141 commonName VAR_029141 VAR_029141 disease not phenotype-associated VAR_029142 commonName VAR_029142 VAR_029142 disease not phenotype-associated VAR_029143 commonName VAR_029143 VAR_029143 disease not phenotype-associated VAR_029144 commonName VAR_029144 VAR_029144 disease not phenotype-associated VAR_029146 commonName VAR_029146 VAR_029146 disease not phenotype-associated VAR_029147 commonName VAR_029147 VAR_029147 disease not phenotype-associated VAR_029148 commonName VAR_029148 VAR_029148 disease not phenotype-associated VAR_029149 commonName VAR_029149 VAR_029149 disease not phenotype-associated VAR_029150 commonName VAR_029150 VAR_029150 disease not phenotype-associated VAR_029151 commonName VAR_029151 VAR_029151 disease not phenotype-associated VAR_029152 commonName VAR_029152 VAR_029152 disease not phenotype-associated VAR_029153 commonName VAR_029153 VAR_029153 disease not phenotype-associated VAR_029154 commonName VAR_029154 VAR_029154 disease not phenotype-associated VAR_029156 commonName VAR_029156 VAR_029156 disease not phenotype-associated VAR_029157 commonName VAR_029157 VAR_029157 disease not phenotype-associated VAR_029158 commonName VAR_029158 VAR_029158 disease not phenotype-associated VAR_029159 commonName VAR_029159 VAR_029159 disease not phenotype-associated VAR_029160 commonName VAR_029160 VAR_029160 disease not phenotype-associated VAR_029161 commonName VAR_029161 VAR_029161 disease not phenotype-associated VAR_029162 commonName VAR_029162 VAR_029162 disease not phenotype-associated VAR_029163 commonName VAR_029163 VAR_029163 disease not phenotype-associated VAR_029164 commonName VAR_029164 VAR_029164 disease not phenotype-associated VAR_029165 commonName VAR_029165 VAR_029165 disease not phenotype-associated VAR_029166 commonName VAR_029166 VAR_029166 disease not phenotype-associated VAR_029167 commonName VAR_029167 VAR_029167 disease not phenotype-associated VAR_029168 commonName VAR_029168 VAR_029168 disease not phenotype-associated VAR_029169 commonName VAR_029169 VAR_029169 disease not phenotype-associated VAR_029170 commonName VAR_029170 VAR_029170 disease not phenotype-associated VAR_029171 commonName VAR_029171 VAR_029171 disease not phenotype-associated VAR_029172 commonName VAR_029172 VAR_029172 disease not phenotype-associated VAR_029173 commonName VAR_029173 VAR_029173 disease not phenotype-associated VAR_029174 commonName VAR_029174 VAR_029174 disease not phenotype-associated VAR_029175 commonName VAR_029175 VAR_029175 disease not phenotype-associated VAR_029176 commonName VAR_029176 VAR_029176 disease not phenotype-associated VAR_029177 commonName VAR_029177 VAR_029177 disease not phenotype-associated VAR_029178 commonName VAR_029178 VAR_029178 disease not phenotype-associated VAR_029179 commonName VAR_029179 VAR_029179 disease not phenotype-associated VAR_029180 commonName VAR_029180 VAR_029180 disease not phenotype-associated VAR_029181 commonName VAR_029181 VAR_029181 disease not phenotype-associated VAR_029182 commonName VAR_029182 VAR_029182 disease not phenotype-associated VAR_029183 commonName VAR_029183 VAR_029183 disease not phenotype-associated VAR_029184 commonName VAR_029184 VAR_029184 disease not phenotype-associated VAR_029185 commonName VAR_029185 VAR_029185 disease not phenotype-associated VAR_029186 commonName VAR_029186 VAR_029186 disease not phenotype-associated VAR_029187 commonName VAR_029187 VAR_029187 disease not phenotype-associated VAR_029188 commonName VAR_029188 VAR_029188 disease not phenotype-associated VAR_029189 commonName VAR_029189 VAR_029189 disease not phenotype-associated VAR_029190 commonName VAR_029190 VAR_029190 disease not phenotype-associated VAR_029191 commonName VAR_029191 VAR_029191 disease not phenotype-associated VAR_029192 commonName VAR_029192 VAR_029192 disease not phenotype-associated VAR_029193 commonName VAR_029193 VAR_029193 disease not phenotype-associated VAR_029194 commonName VAR_029194 VAR_029194 disease not phenotype-associated VAR_029195 commonName VAR_029195 VAR_029195 disease not phenotype-associated VAR_029196 commonName VAR_029196 VAR_029196 disease not phenotype-associated VAR_029197 commonName VAR_029197 VAR_029197 disease not phenotype-associated VAR_029198 commonName VAR_029198 VAR_029198 disease not phenotype-associated VAR_029199 commonName VAR_029199 VAR_029199 disease not phenotype-associated VAR_029200 commonName VAR_029200 VAR_029200 disease not phenotype-associated VAR_029201 commonName VAR_029201 VAR_029201 disease not phenotype-associated VAR_029202 commonName VAR_029202 VAR_029202 disease not phenotype-associated VAR_029203 commonName VAR_029203 VAR_029203 disease not phenotype-associated VAR_029204 commonName VAR_029204 VAR_029204 disease not phenotype-associated VAR_029205 commonName VAR_029205 VAR_029205 disease not phenotype-associated VAR_029206 commonName VAR_029206 VAR_029206 disease not phenotype-associated VAR_029207 commonName VAR_029207 VAR_029207 disease not phenotype-associated VAR_029208 commonName VAR_029208 VAR_029208 disease not phenotype-associated VAR_029209 commonName VAR_029209 VAR_029209 disease not phenotype-associated VAR_029210 commonName VAR_029210 VAR_029210 disease not phenotype-associated VAR_029211 commonName VAR_029211 VAR_029211 disease not phenotype-associated VAR_029212 commonName VAR_029212 VAR_029212 disease not phenotype-associated VAR_029213 commonName VAR_029213 VAR_029213 disease not phenotype-associated VAR_029214 commonName VAR_029214 VAR_029214 disease not phenotype-associated VAR_029215 commonName VAR_029215 VAR_029215 disease not phenotype-associated VAR_029216 commonName VAR_029216 VAR_029216 disease not phenotype-associated VAR_029217 commonName VAR_029217 VAR_029217 disease not phenotype-associated VAR_029218 commonName VAR_029218 VAR_029218 disease not phenotype-associated VAR_029219 commonName VAR_029219 VAR_029219 disease not phenotype-associated VAR_029220 commonName VAR_029220 VAR_029220 disease not phenotype-associated VAR_029221 commonName VAR_029221 VAR_029221 disease not phenotype-associated VAR_029222 commonName VAR_029222 VAR_029222 disease not phenotype-associated VAR_029223 commonName VAR_029223 VAR_029223 disease not phenotype-associated VAR_029224 commonName VAR_029224 VAR_029224 disease not phenotype-associated VAR_029225 commonName VAR_029225 VAR_029225 disease not phenotype-associated VAR_029226 commonName VAR_029226 VAR_029226 disease not phenotype-associated VAR_029227 commonName VAR_029227 VAR_029227 disease not phenotype-associated VAR_029229 commonName VAR_029229 VAR_029229 disease not phenotype-associated VAR_029230 commonName VAR_029230 VAR_029230 disease not phenotype-associated VAR_029231 commonName VAR_029231 VAR_029231 disease not phenotype-associated VAR_029232 commonName VAR_029232 VAR_029232 disease not phenotype-associated VAR_029233 commonName VAR_029233 VAR_029233 disease not phenotype-associated VAR_029234 commonName VAR_029234 VAR_029234 disease not phenotype-associated VAR_029235 commonName VAR_029235 VAR_029235 disease not phenotype-associated VAR_029236 commonName VAR_029236 VAR_029236 disease not phenotype-associated VAR_029238 commonName VAR_029238 VAR_029238 disease not phenotype-associated VAR_029239 commonName VAR_029239 VAR_029239 disease not phenotype-associated VAR_029240 commonName VAR_029240 VAR_029240 disease not phenotype-associated VAR_029241 commonName VAR_029241 VAR_029241 disease not phenotype-associated VAR_029242 commonName VAR_029242 VAR_029242 disease not phenotype-associated VAR_029243 commonName VAR_029243 VAR_029243 disease not phenotype-associated VAR_029244 commonName VAR_029244 VAR_029244 disease not phenotype-associated VAR_029245 commonName VAR_029245 VAR_029245 disease not phenotype-associated VAR_029246 commonName VAR_029246 VAR_029246 disease not phenotype-associated VAR_029247 commonName VAR_029247 VAR_029247 disease not phenotype-associated VAR_029248 commonName VAR_029248 VAR_029248 disease not phenotype-associated VAR_029249 commonName VAR_029249 VAR_029249 disease not phenotype-associated VAR_029250 commonName VAR_029250 VAR_029250 disease not phenotype-associated VAR_029251 commonName VAR_029251 VAR_029251 disease not phenotype-associated VAR_029252 commonName VAR_029252 VAR_029252 disease not phenotype-associated VAR_029253 commonName VAR_029253 VAR_029253 disease not phenotype-associated VAR_029254 commonName VAR_029254 VAR_029254 disease not phenotype-associated VAR_029255 commonName VAR_029255 VAR_029255 disease not phenotype-associated VAR_029256 commonName VAR_029256 VAR_029256 disease not phenotype-associated VAR_029257 commonName VAR_029257 VAR_029257 disease not phenotype-associated VAR_029259 commonName VAR_029259 VAR_029259 disease not phenotype-associated VAR_029260 commonName VAR_029260 VAR_029260 disease not phenotype-associated VAR_029261 commonName VAR_029261 VAR_029261 disease not phenotype-associated VAR_029262 commonName VAR_029262 VAR_029262 disease not phenotype-associated VAR_029263 commonName VAR_029263 VAR_029263 disease not phenotype-associated VAR_029264 commonName VAR_029264 VAR_029264 disease not phenotype-associated VAR_029265 commonName VAR_029265 VAR_029265 disease not phenotype-associated VAR_029266 commonName VAR_029266 VAR_029266 disease not phenotype-associated VAR_029267 commonName VAR_029267 VAR_029267 disease not phenotype-associated VAR_029268 commonName VAR_029268 VAR_029268 disease not phenotype-associated VAR_029269 commonName VAR_029269 VAR_029269 disease not phenotype-associated VAR_029270 commonName VAR_029270 VAR_029270 disease not phenotype-associated VAR_029271 commonName VAR_029271 VAR_029271 disease not phenotype-associated VAR_029272 commonName VAR_029272 VAR_029272 disease not phenotype-associated VAR_029273 commonName VAR_029273 VAR_029273 disease not phenotype-associated VAR_029274 commonName VAR_029274 VAR_029274 disease not phenotype-associated VAR_029275 commonName VAR_029275 VAR_029275 disease not phenotype-associated VAR_029276 commonName VAR_029276 VAR_029276 disease not phenotype-associated VAR_029278 commonName VAR_029278 VAR_029278 disease not phenotype-associated VAR_029279 commonName VAR_029279 VAR_029279 disease not phenotype-associated VAR_029280 commonName VAR_029280 VAR_029280 disease not phenotype-associated VAR_029281 commonName VAR_029281 VAR_029281 disease not phenotype-associated VAR_029282 commonName VAR_029282 VAR_029282 disease not phenotype-associated VAR_029283 commonName VAR_029283 VAR_029283 disease not phenotype-associated VAR_029284 commonName VAR_029284 VAR_029284 disease not phenotype-associated VAR_029286 commonName VAR_029286 VAR_029286 disease not phenotype-associated VAR_029287 commonName VAR_029287 VAR_029287 disease not phenotype-associated VAR_029288 commonName VAR_029288 VAR_029288 disease not phenotype-associated VAR_029289 commonName VAR_029289 VAR_029289 disease not phenotype-associated VAR_029290 commonName VAR_029290 VAR_029290 disease not phenotype-associated VAR_029291 commonName VAR_029291 VAR_029291 disease not phenotype-associated VAR_029292 commonName VAR_029292 VAR_029292 disease not phenotype-associated VAR_029294 commonName VAR_029294 VAR_029294 disease not phenotype-associated VAR_029295 commonName VAR_029295 VAR_029295 disease not phenotype-associated VAR_029296 commonName VAR_029296 VAR_029296 disease not phenotype-associated VAR_029298 commonName VAR_029298 VAR_029298 disease not phenotype-associated VAR_029299 commonName VAR_029299 VAR_029299 disease not phenotype-associated VAR_029302 commonName VAR_029302 VAR_029302 disease not phenotype-associated VAR_029303 commonName VAR_029303 VAR_029303 disease not phenotype-associated VAR_029304 commonName VAR_029304 VAR_029304 disease not phenotype-associated VAR_029306 commonName VAR_029306 VAR_029306 disease not phenotype-associated VAR_029307 commonName VAR_029307 VAR_029307 disease not phenotype-associated VAR_029308 commonName VAR_029308 VAR_029308 disease not phenotype-associated VAR_029309 commonName VAR_029309 VAR_029309 disease not phenotype-associated VAR_029310 commonName VAR_029310 VAR_029310 disease not phenotype-associated VAR_029312 commonName VAR_029312 VAR_029312 disease not phenotype-associated VAR_029313 commonName VAR_029313 VAR_029313 disease not phenotype-associated VAR_029314 commonName VAR_029314 VAR_029314 disease not phenotype-associated VAR_029315 commonName VAR_029315 VAR_029315 disease phenotype-associated VAR_029315 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_029316 commonName VAR_029316 VAR_029316 disease not phenotype-associated VAR_029317 commonName VAR_029317 VAR_029317 disease not phenotype-associated VAR_029318 commonName VAR_029318 VAR_029318 disease not phenotype-associated VAR_029319 commonName VAR_029319 VAR_029319 disease not phenotype-associated VAR_029320 commonName VAR_029320 VAR_029320 disease not phenotype-associated VAR_029321 commonName VAR_029321 VAR_029321 disease not phenotype-associated VAR_029322 commonName VAR_029322 VAR_029322 disease not phenotype-associated VAR_029323 commonName VAR_029323 VAR_029323 disease not phenotype-associated VAR_029324 commonName VAR_029324 VAR_029324 disease not phenotype-associated VAR_029325 commonName VAR_029325 VAR_029325 disease not phenotype-associated VAR_029326 commonName VAR_029326 VAR_029326 disease not phenotype-associated VAR_029328 commonName VAR_029328 VAR_029328 disease not phenotype-associated VAR_029329 commonName VAR_029329 VAR_029329 disease not phenotype-associated VAR_029330 commonName VAR_029330 VAR_029330 disease not phenotype-associated VAR_029331 commonName VAR_029331 VAR_029331 disease not phenotype-associated VAR_029332 commonName VAR_029332 VAR_029332 disease not phenotype-associated VAR_029333 commonName VAR_029333 VAR_029333 disease not phenotype-associated VAR_029334 commonName VAR_029334 VAR_029334 disease phenotype-associated VAR_029334 phenoCommon Long QT syndrome type 6 (LQT6) [MIM:613693] VAR_029335 commonName VAR_029335 VAR_029335 disease not phenotype-associated VAR_029336 commonName VAR_029336 VAR_029336 disease not phenotype-associated VAR_029337 commonName VAR_029337 VAR_029337 disease not phenotype-associated VAR_029338 commonName VAR_029338 VAR_029338 disease not phenotype-associated VAR_029339 commonName VAR_029339 VAR_029339 disease not phenotype-associated VAR_029340 commonName VAR_029340 VAR_029340 disease not phenotype-associated VAR_029351 commonName VAR_029351 VAR_029351 disease not phenotype-associated VAR_029352 commonName VAR_029352 VAR_029352 disease not phenotype-associated VAR_029353 commonName VAR_029353 VAR_029353 disease not phenotype-associated VAR_029354 commonName VAR_029354 VAR_029354 disease phenotype-associated VAR_029354 phenoCommon Microphthalmia syndromic type 5 (MCOPS5) [MIM:610125] VAR_029355 commonName VAR_029355 VAR_029355 disease phenotype-associated VAR_029355 phenoCommon Microphthalmia syndromic type 5 (MCOPS5) [MIM:610125] VAR_029356 commonName VAR_029356 VAR_029356 disease phenotype-associated VAR_029356 phenoCommon Microphthalmia syndromic type 5 (MCOPS5) [MIM:610125] VAR_029357 commonName VAR_029357 VAR_029357 disease phenotype-associated VAR_029357 phenoCommon Microphthalmia isolated type 2 (MCOP2) [MIM:610093] VAR_029358 commonName VAR_029358 VAR_029358 disease not phenotype-associated VAR_029359 commonName VAR_029359 VAR_029359 disease not phenotype-associated VAR_029361 commonName VAR_029361 VAR_029361 disease phenotype-associated VAR_029361 phenoCommon Alagille syndrome type 2 (ALGS2) [MIM:610205] VAR_029362 commonName VAR_029362 VAR_029362 disease phenotype-associated VAR_029362 phenoCommon Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127] VAR_029363 commonName VAR_029363 VAR_029363 disease phenotype-associated VAR_029363 phenoCommon Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127] VAR_029365 commonName VAR_029365 VAR_029365 disease phenotype-associated VAR_029365 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 10 (ARVD10) [MIM:610193] VAR_029366 commonName VAR_029366 VAR_029366 disease phenotype-associated VAR_029366 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 10 (ARVD10) [MIM:610193] VAR_029367 commonName VAR_029367 VAR_029367 disease phenotype-associated VAR_029367 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 10 (ARVD10) [MIM:610193] VAR_029368 commonName VAR_029368 VAR_029368 disease phenotype-associated VAR_029368 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 10 (ARVD10) [MIM:610193] VAR_029369 commonName VAR_029369 VAR_029369 disease phenotype-associated VAR_029369 phenoCommon Cataract pulverulent juvenile-onset MAF-related (CAPJOM) [MIM:610202] VAR_029370 commonName VAR_029370 VAR_029370 disease phenotype-associated VAR_029370 phenoCommon Cataract congenital cerulean type 4 (CCA4) [MIM:610202] VAR_029371 commonName VAR_029371 VAR_029371 disease phenotype-associated VAR_029371 phenoCommon Neurodegeneration with brain iron accumulation type 2A (NBIA2A) [MIM:256600] VAR_029372 commonName VAR_029372 VAR_029372 disease phenotype-associated VAR_029372 phenoCommon Neurodegeneration with brain iron accumulation type 2B (NBIA2B) [MIM:610217] VAR_029373 commonName VAR_029373 VAR_029373 disease phenotype-associated VAR_029373 phenoCommon Neurodegeneration with brain iron accumulation type 2B (NBIA2B) [MIM:610217] VAR_029375 commonName VAR_029375 VAR_029375 disease phenotype-associated VAR_029375 phenoCommon Congenital stationary night blindness type 2B (CSNB2B) [MIM:610427] VAR_029376 commonName VAR_029376 VAR_029376 disease not phenotype-associated VAR_029377 commonName VAR_029377 VAR_029377 disease not phenotype-associated VAR_029378 commonName VAR_029378 VAR_029378 disease not phenotype-associated VAR_029379 commonName VAR_029379 VAR_029379 disease not phenotype-associated VAR_029380 commonName VAR_029380 VAR_029380 disease not phenotype-associated VAR_029384 commonName VAR_029384 VAR_029384 disease not phenotype-associated VAR_029385 commonName VAR_029385 VAR_029385 disease not phenotype-associated VAR_029386 commonName VAR_029386 VAR_029386 disease not phenotype-associated VAR_029387 commonName VAR_029387 VAR_029387 disease not phenotype-associated VAR_029388 commonName VAR_029388 VAR_029388 disease not phenotype-associated VAR_029389 commonName VAR_029389 VAR_029389 disease not phenotype-associated VAR_029430 commonName VAR_029430 VAR_029430 disease not phenotype-associated VAR_029431 commonName VAR_029431 VAR_029431 disease phenotype-associated VAR_029431 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_029432 commonName VAR_029432 VAR_029432 disease phenotype-associated VAR_029432 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_029433 commonName VAR_029433 VAR_029433 disease phenotype-associated VAR_029433 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_029434 commonName VAR_029434 VAR_029434 disease not phenotype-associated VAR_029435 commonName VAR_029435 VAR_029435 disease phenotype-associated VAR_029435 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_029436 commonName VAR_029436 VAR_029436 disease phenotype-associated VAR_029436 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_029437 commonName VAR_029437 VAR_029437 disease phenotype-associated VAR_029437 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_029438 commonName VAR_029438 VAR_029438 disease phenotype-associated VAR_029438 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_029439 commonName VAR_029439 VAR_029439 disease phenotype-associated VAR_029439 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_029440 commonName VAR_029440 VAR_029440 disease phenotype-associated VAR_029440 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_029441 commonName VAR_029441 VAR_029441 disease phenotype-associated VAR_029441 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_029442 commonName VAR_029442 VAR_029442 disease phenotype-associated VAR_029442 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_029443 commonName VAR_029443 VAR_029443 disease phenotype-associated VAR_029443 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_029444 commonName VAR_029444 VAR_029444 disease phenotype-associated VAR_029444 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_029445 commonName VAR_029445 VAR_029445 disease not phenotype-associated VAR_029446 commonName VAR_029446 VAR_029446 disease phenotype-associated VAR_029446 phenoCommon Cardiomyopathy dilated type 1N (CMD1N) [MIM:607487] VAR_029447 commonName VAR_029447 VAR_029447 disease phenotype-associated VAR_029447 phenoCommon Familial hypertrophic cardiomyopathy (CMH) [MIM:192600] VAR_029448 commonName VAR_029448 VAR_029448 disease phenotype-associated VAR_029448 phenoCommon Familial hypertrophic cardiomyopathy (CMH) [MIM:192600] VAR_029449 commonName VAR_029449 VAR_029449 disease not phenotype-associated VAR_029452 commonName VAR_029452 VAR_029452 disease phenotype-associated VAR_029452 phenoCommon Familial hypertrophic cardiomyopathy type 3 (CMH3) [MIM:115196] VAR_029453 commonName VAR_029453 VAR_029453 disease not phenotype-associated VAR_029454 commonName VAR_029454 VAR_029454 disease phenotype-associated VAR_029454 phenoCommon Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690] VAR_029455 commonName VAR_029455 VAR_029455 disease not phenotype-associated VAR_029456 commonName VAR_029456 VAR_029456 disease not phenotype-associated VAR_029457 commonName VAR_029457 VAR_029457 disease not phenotype-associated VAR_029458 commonName VAR_029458 VAR_029458 disease not phenotype-associated VAR_029459 commonName VAR_029459 VAR_029459 disease not phenotype-associated VAR_029460 commonName VAR_029460 VAR_029460 disease not phenotype-associated VAR_029461 commonName VAR_029461 VAR_029461 disease not phenotype-associated VAR_029462 commonName VAR_029462 VAR_029462 disease not phenotype-associated VAR_029463 commonName VAR_029463 VAR_029463 disease not phenotype-associated VAR_029464 commonName VAR_029464 VAR_029464 disease not phenotype-associated VAR_029465 commonName VAR_029465 VAR_029465 disease not phenotype-associated VAR_029466 commonName VAR_029466 VAR_029466 disease not phenotype-associated VAR_029467 commonName VAR_029467 VAR_029467 disease not phenotype-associated VAR_029468 commonName VAR_029468 VAR_029468 disease not phenotype-associated VAR_029469 commonName VAR_029469 VAR_029469 disease not phenotype-associated VAR_029470 commonName VAR_029470 VAR_029470 disease not phenotype-associated VAR_029472 commonName VAR_029472 VAR_029472 disease not phenotype-associated VAR_029473 commonName VAR_029473 VAR_029473 disease not phenotype-associated VAR_029474 commonName VAR_029474 VAR_029474 disease not phenotype-associated VAR_029475 commonName VAR_029475 VAR_029475 disease not phenotype-associated VAR_029476 commonName VAR_029476 VAR_029476 disease not phenotype-associated VAR_029477 commonName VAR_029477 VAR_029477 disease not phenotype-associated VAR_029480 commonName VAR_029480 VAR_029480 disease not phenotype-associated VAR_029481 commonName VAR_029481 VAR_029481 disease phenotype-associated VAR_029481 phenoCommon Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967] VAR_029482 commonName VAR_029482 VAR_029482 disease phenotype-associated VAR_029482 phenoCommon Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192] VAR_029483 commonName VAR_029483 VAR_029492 commonName VAR_029492 VAR_029492 disease not phenotype-associated VAR_029493 commonName VAR_029493 VAR_029493 disease not phenotype-associated VAR_029494 commonName VAR_029494 VAR_029494 disease not phenotype-associated VAR_029495 commonName VAR_029495 VAR_029495 disease not phenotype-associated VAR_029496 commonName VAR_029496 VAR_029496 disease not phenotype-associated VAR_029499 commonName VAR_029499 VAR_029499 disease phenotype-associated VAR_029499 phenoCommon Wolfram syndrome type 1 (WFS1) [MIM:222300] VAR_029500 commonName VAR_029500 VAR_029500 disease not phenotype-associated VAR_029502 commonName VAR_029502 VAR_029502 disease phenotype-associated VAR_029502 phenoCommon Wolfram syndrome type 1 (WFS1) [MIM:222300] VAR_029505 commonName VAR_029505 VAR_029505 disease phenotype-associated VAR_029505 phenoCommon Wolfram syndrome type 1 (WFS1) [MIM:222300] VAR_029509 commonName VAR_029509 VAR_029509 disease not phenotype-associated VAR_029510 commonName VAR_029510 VAR_029510 disease not phenotype-associated VAR_029511 commonName VAR_029511 VAR_029511 disease not phenotype-associated VAR_029513 commonName VAR_029513 VAR_029513 disease not phenotype-associated VAR_029514 commonName VAR_029514 VAR_029514 disease not phenotype-associated VAR_029515 commonName VAR_029515 VAR_029515 disease not phenotype-associated VAR_029516 commonName VAR_029516 VAR_029516 disease not phenotype-associated VAR_029517 commonName VAR_029517 VAR_029517 disease not phenotype-associated VAR_029518 commonName VAR_029518 VAR_029518 disease not phenotype-associated VAR_029519 commonName VAR_029519 VAR_029519 disease phenotype-associated VAR_029519 phenoCommon Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] VAR_029520 commonName VAR_029520 VAR_029520 disease phenotype-associated VAR_029520 phenoCommon Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] VAR_029521 commonName VAR_029521 VAR_029521 disease phenotype-associated VAR_029521 phenoCommon Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] VAR_029528 commonName VAR_029528 VAR_029528 disease phenotype-associated VAR_029528 phenoCommon Microphthalmia isolated with cataract type 4 (MCOPCT4) [MIM:610426] VAR_029529 commonName VAR_029529 VAR_029529 disease phenotype-associated VAR_029529 phenoCommon Cataract zonular type 2 (CZ2) [MIM:610425] VAR_029530 commonName VAR_029530 VAR_029530 disease phenotype-associated VAR_029530 phenoCommon Spinocerebellar ataxia type 13 (SCA13) [MIM:605259] VAR_029531 commonName VAR_029531 VAR_029531 disease phenotype-associated VAR_029531 phenoCommon Spinocerebellar ataxia type 13 (SCA13) [MIM:605259] VAR_029532 commonName VAR_029532 VAR_029532 disease phenotype-associated VAR_029532 phenoCommon Spheroid body myopathy (SBM) [MIM:182920] VAR_029533 commonName VAR_029533 VAR_029533 disease not phenotype-associated VAR_029534 commonName VAR_029534 VAR_029534 disease phenotype-associated VAR_029534 phenoCommon Tooth agenesis selective X-linked type 1 (STHAGX1) [MIM:313500] VAR_029535 commonName VAR_029535 VAR_029535 disease phenotype-associated VAR_029535 phenoCommon Arterial tortuosity syndrome (ATS) [MIM:208050] VAR_029536 commonName VAR_029536 VAR_029536 disease not phenotype-associated VAR_029537 commonName VAR_029537 VAR_029537 disease not phenotype-associated VAR_029538 commonName VAR_029538 VAR_029538 disease not phenotype-associated VAR_029539 commonName VAR_029539 VAR_029539 disease not phenotype-associated VAR_029540 commonName VAR_029540 VAR_029540 disease phenotype-associated VAR_029540 phenoCommon HyperCKmia (HYPCK) [MIM:123320] VAR_029541 commonName VAR_029541 VAR_029541 disease phenotype-associated VAR_029541 phenoCommon Rippling muscle disease (RMD) [MIM:606072] VAR_029542 commonName VAR_029542 VAR_029542 disease not phenotype-associated VAR_029543 commonName VAR_029543 VAR_029543 disease phenotype-associated VAR_029543 phenoCommon Familial hypertrophic cardiomyopathy (CMH) [MIM:192600] VAR_029545 commonName VAR_029545 VAR_029545 disease not phenotype-associated VAR_029546 commonName VAR_029546 VAR_029546 disease not phenotype-associated VAR_029548 commonName VAR_029548 VAR_029548 disease not phenotype-associated VAR_029549 commonName VAR_029549 VAR_029549 disease not phenotype-associated VAR_029550 commonName VAR_029550 VAR_029550 disease not phenotype-associated VAR_029551 commonName VAR_029551 VAR_029551 disease not phenotype-associated VAR_029552 commonName VAR_029552 VAR_029552 disease not phenotype-associated VAR_029553 commonName VAR_029553 VAR_029553 disease not phenotype-associated VAR_029554 commonName VAR_029554 VAR_029554 disease not phenotype-associated VAR_029555 commonName VAR_029555 VAR_029555 disease not phenotype-associated VAR_029556 commonName VAR_029556 VAR_029556 disease not phenotype-associated VAR_029557 commonName VAR_029557 VAR_029557 disease not phenotype-associated VAR_029558 commonName VAR_029558 VAR_029558 disease not phenotype-associated VAR_029559 commonName VAR_029559 VAR_029559 disease not phenotype-associated VAR_029560 commonName VAR_029560 VAR_029560 disease not phenotype-associated VAR_029561 commonName VAR_029561 VAR_029561 disease not phenotype-associated VAR_029563 commonName VAR_029563 VAR_029564 commonName VAR_029564 VAR_029565 commonName VAR_029565 VAR_029565 disease not phenotype-associated VAR_029566 commonName VAR_029566 VAR_029567 commonName VAR_029567 VAR_029567 disease not phenotype-associated VAR_029568 commonName VAR_029568 VAR_029569 commonName VAR_029569 VAR_029569 disease not phenotype-associated VAR_029570 commonName VAR_029570 VAR_029570 disease not phenotype-associated VAR_029571 commonName VAR_029571 VAR_029571 disease phenotype-associated VAR_029571 phenoCommon Hyperprolinemia type 1 (HP-1) [MIM:239500] VAR_029572 commonName VAR_029572 VAR_029572 disease not phenotype-associated VAR_029573 commonName VAR_029573 VAR_029573 disease not phenotype-associated VAR_029574 commonName VAR_029574 VAR_029574 disease not phenotype-associated VAR_029575 commonName VAR_029575 VAR_029575 disease not phenotype-associated VAR_029578 commonName VAR_029578 VAR_029578 disease not phenotype-associated VAR_029579 commonName VAR_029579 VAR_029579 disease not phenotype-associated VAR_029581 commonName VAR_029581 VAR_029581 disease not phenotype-associated VAR_029583 commonName VAR_029583 VAR_029583 disease not phenotype-associated VAR_029584 commonName VAR_029584 VAR_029584 disease not phenotype-associated VAR_029585 commonName VAR_029585 VAR_029585 disease not phenotype-associated VAR_029586 commonName VAR_029586 VAR_029586 disease not phenotype-associated VAR_029587 commonName VAR_029587 VAR_029587 disease not phenotype-associated VAR_029589 commonName VAR_029589 VAR_029589 disease not phenotype-associated VAR_029590 commonName VAR_029590 VAR_029590 disease not phenotype-associated VAR_029591 commonName VAR_029591 VAR_029591 disease not phenotype-associated VAR_029592 commonName VAR_029592 VAR_029592 disease not phenotype-associated VAR_029593 commonName VAR_029593 VAR_029593 disease not phenotype-associated VAR_029594 commonName VAR_029594 VAR_029594 disease not phenotype-associated VAR_029595 commonName VAR_029595 VAR_029595 disease not phenotype-associated VAR_029596 commonName VAR_029596 VAR_029596 disease not phenotype-associated VAR_029597 commonName VAR_029597 VAR_029597 disease not phenotype-associated VAR_029598 commonName VAR_029598 VAR_029598 disease not phenotype-associated VAR_029602 commonName VAR_029602 VAR_029602 disease not phenotype-associated VAR_029603 commonName VAR_029603 VAR_029603 disease not phenotype-associated VAR_029604 commonName VAR_029604 VAR_029604 disease not phenotype-associated VAR_029605 commonName VAR_029605 VAR_029605 disease not phenotype-associated VAR_029606 commonName VAR_029606 VAR_029606 disease not phenotype-associated VAR_029607 commonName VAR_029607 VAR_029607 disease not phenotype-associated VAR_029608 commonName VAR_029608 VAR_029608 disease not phenotype-associated VAR_029609 commonName VAR_029609 VAR_029609 disease not phenotype-associated VAR_029610 commonName VAR_029610 VAR_029610 disease not phenotype-associated VAR_029611 commonName VAR_029611 VAR_029611 disease not phenotype-associated VAR_029612 commonName VAR_029612 VAR_029612 disease not phenotype-associated VAR_029614 commonName VAR_029614 VAR_029614 disease not phenotype-associated VAR_029615 commonName VAR_029615 VAR_029615 disease not phenotype-associated VAR_029616 commonName VAR_029616 VAR_029616 disease not phenotype-associated VAR_029617 commonName VAR_029617 VAR_029617 disease not phenotype-associated VAR_029618 commonName VAR_029618 VAR_029618 disease not phenotype-associated VAR_029619 commonName VAR_029619 VAR_029619 disease not phenotype-associated VAR_029620 commonName VAR_029620 VAR_029620 disease not phenotype-associated VAR_029621 commonName VAR_029621 VAR_029621 disease not phenotype-associated VAR_029622 commonName VAR_029622 VAR_029622 disease not phenotype-associated VAR_029623 commonName VAR_029623 VAR_029623 disease not phenotype-associated VAR_029624 commonName VAR_029624 VAR_029624 disease not phenotype-associated VAR_029625 commonName VAR_029625 VAR_029625 disease not phenotype-associated VAR_029626 commonName VAR_029626 VAR_029626 disease not phenotype-associated VAR_029627 commonName VAR_029627 VAR_029627 disease not phenotype-associated VAR_029628 commonName VAR_029628 VAR_029628 disease not phenotype-associated VAR_029629 commonName VAR_029629 VAR_029629 disease not phenotype-associated VAR_029630 commonName VAR_029630 VAR_029630 disease not phenotype-associated VAR_029631 commonName VAR_029631 VAR_029631 disease not phenotype-associated VAR_029632 commonName VAR_029632 VAR_029632 disease not phenotype-associated VAR_029633 commonName VAR_029633 VAR_029633 disease not phenotype-associated VAR_029635 commonName VAR_029635 VAR_029635 disease not phenotype-associated VAR_029636 commonName VAR_029636 VAR_029636 disease not phenotype-associated VAR_029637 commonName VAR_029637 VAR_029637 disease not phenotype-associated VAR_029638 commonName VAR_029638 VAR_029638 disease not phenotype-associated VAR_029639 commonName VAR_029639 VAR_029639 disease not phenotype-associated VAR_029640 commonName VAR_029640 VAR_029640 disease not phenotype-associated VAR_029641 commonName VAR_029641 VAR_029641 disease not phenotype-associated VAR_029642 commonName VAR_029642 VAR_029642 disease not phenotype-associated VAR_029643 commonName VAR_029643 VAR_029643 disease not phenotype-associated VAR_029648 commonName VAR_029648 VAR_029648 disease not phenotype-associated VAR_029649 commonName VAR_029649 VAR_029649 disease not phenotype-associated VAR_029650 commonName VAR_029650 VAR_029650 disease not phenotype-associated VAR_029651 commonName VAR_029651 VAR_029651 disease not phenotype-associated VAR_029652 commonName VAR_029652 VAR_029652 disease not phenotype-associated VAR_029653 commonName VAR_029653 VAR_029653 disease not phenotype-associated VAR_029656 commonName VAR_029656 VAR_029656 disease not phenotype-associated VAR_029657 commonName VAR_029657 VAR_029657 disease phenotype-associated VAR_029657 phenoCommon Ectodermal dysplasia pure hair-nail type (EDPHN) [MIM:602032] VAR_029658 commonName VAR_029658 VAR_029658 disease not phenotype-associated VAR_029659 commonName VAR_029659 VAR_029659 disease not phenotype-associated VAR_029660 commonName VAR_029660 VAR_029660 disease phenotype-associated VAR_029660 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029661 commonName VAR_029661 VAR_029661 disease phenotype-associated VAR_029661 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029662 commonName VAR_029662 VAR_029662 disease phenotype-associated VAR_029662 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029663 commonName VAR_029663 VAR_029663 disease phenotype-associated VAR_029663 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029664 commonName VAR_029664 VAR_029664 disease phenotype-associated VAR_029664 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029665 commonName VAR_029665 VAR_029665 disease phenotype-associated VAR_029665 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029666 commonName VAR_029666 VAR_029666 disease phenotype-associated VAR_029666 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029667 commonName VAR_029667 VAR_029667 disease phenotype-associated VAR_029667 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029668 commonName VAR_029668 VAR_029668 disease phenotype-associated VAR_029668 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029669 commonName VAR_029669 VAR_029669 disease phenotype-associated VAR_029669 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029670 commonName VAR_029670 VAR_029670 disease phenotype-associated VAR_029670 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029671 commonName VAR_029671 VAR_029671 disease phenotype-associated VAR_029671 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029672 commonName VAR_029672 VAR_029672 disease phenotype-associated VAR_029672 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029673 commonName VAR_029673 VAR_029673 disease phenotype-associated VAR_029673 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029674 commonName VAR_029674 VAR_029674 disease not phenotype-associated VAR_029675 commonName VAR_029675 VAR_029675 disease phenotype-associated VAR_029675 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] VAR_029676 commonName VAR_029676 VAR_029676 disease phenotype-associated VAR_029676 phenoCommon Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] VAR_029677 commonName VAR_029677 VAR_029677 disease phenotype-associated VAR_029677 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029678 commonName VAR_029678 VAR_029678 disease phenotype-associated VAR_029678 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029679 commonName VAR_029679 VAR_029679 disease phenotype-associated VAR_029679 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029680 commonName VAR_029680 VAR_029680 disease phenotype-associated VAR_029680 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029681 commonName VAR_029681 VAR_029681 disease phenotype-associated VAR_029681 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029682 commonName VAR_029682 VAR_029682 disease phenotype-associated VAR_029682 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029683 commonName VAR_029683 VAR_029683 disease phenotype-associated VAR_029683 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029684 commonName VAR_029684 VAR_029684 disease phenotype-associated VAR_029684 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029685 commonName VAR_029685 VAR_029685 disease phenotype-associated VAR_029685 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029686 commonName VAR_029686 VAR_029686 disease phenotype-associated VAR_029686 phenoCommon Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] VAR_029687 commonName VAR_029687 VAR_029687 disease phenotype-associated VAR_029687 phenoCommon Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] VAR_029688 commonName VAR_029688 VAR_029688 disease phenotype-associated VAR_029688 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029689 commonName VAR_029689 VAR_029689 disease phenotype-associated VAR_029689 phenoCommon Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] VAR_029690 commonName VAR_029690 VAR_029690 disease not phenotype-associated VAR_029691 commonName VAR_029691 VAR_029692 commonName VAR_029692 VAR_029692 disease phenotype-associated VAR_029692 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029693 commonName VAR_029693 VAR_029693 disease phenotype-associated VAR_029693 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029694 commonName VAR_029694 VAR_029694 disease phenotype-associated VAR_029694 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029695 commonName VAR_029695 VAR_029695 disease phenotype-associated VAR_029695 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029697 commonName VAR_029697 VAR_029697 disease phenotype-associated VAR_029697 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029698 commonName VAR_029698 VAR_029698 disease phenotype-associated VAR_029698 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029699 commonName VAR_029699 VAR_029699 disease phenotype-associated VAR_029699 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029700 commonName VAR_029700 VAR_029700 disease phenotype-associated VAR_029700 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] VAR_029701 commonName VAR_029701 VAR_029701 disease phenotype-associated VAR_029701 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029702 commonName VAR_029702 VAR_029702 disease phenotype-associated VAR_029702 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029703 commonName VAR_029703 VAR_029703 disease phenotype-associated VAR_029703 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029704 commonName VAR_029704 VAR_029704 disease phenotype-associated VAR_029704 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029706 commonName VAR_029706 VAR_029706 disease phenotype-associated VAR_029706 phenoCommon Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] VAR_029707 commonName VAR_029707 VAR_029707 disease phenotype-associated VAR_029707 phenoCommon Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] VAR_029708 commonName VAR_029708 VAR_029708 disease phenotype-associated VAR_029708 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029709 commonName VAR_029709 VAR_029709 disease phenotype-associated VAR_029709 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] VAR_029710 commonName VAR_029710 VAR_029710 disease phenotype-associated VAR_029710 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029711 commonName VAR_029711 VAR_029711 disease phenotype-associated VAR_029711 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029712 commonName VAR_029712 VAR_029712 disease phenotype-associated VAR_029712 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029713 commonName VAR_029713 VAR_029713 disease phenotype-associated VAR_029713 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029714 commonName VAR_029714 VAR_029714 disease phenotype-associated VAR_029714 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029715 commonName VAR_029715 VAR_029715 disease phenotype-associated VAR_029715 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] VAR_029716 commonName VAR_029716 VAR_029716 disease phenotype-associated VAR_029716 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029717 commonName VAR_029717 VAR_029717 disease phenotype-associated VAR_029717 phenoCommon Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] VAR_029718 commonName VAR_029718 VAR_029718 disease phenotype-associated VAR_029718 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029720 commonName VAR_029720 VAR_029720 disease phenotype-associated VAR_029720 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029721 commonName VAR_029721 VAR_029721 disease phenotype-associated VAR_029721 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029723 commonName VAR_029723 VAR_029723 disease phenotype-associated VAR_029723 phenoCommon Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] VAR_029724 commonName VAR_029724 VAR_029724 disease phenotype-associated VAR_029724 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029726 commonName VAR_029726 VAR_029726 disease phenotype-associated VAR_029726 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029727 commonName VAR_029727 VAR_029727 disease phenotype-associated VAR_029727 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] VAR_029728 commonName VAR_029728 VAR_029728 disease phenotype-associated VAR_029728 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029729 commonName VAR_029729 VAR_029729 disease phenotype-associated VAR_029729 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_029730 commonName VAR_029730 VAR_029731 commonName VAR_029731 VAR_029731 disease not phenotype-associated VAR_029732 commonName VAR_029732 VAR_029732 disease not phenotype-associated VAR_029733 commonName VAR_029733 VAR_029733 disease phenotype-associated VAR_029733 phenoCommon Seizures, benign familial infantile type 3 (BFIS3) [MIM:607745] VAR_029734 commonName VAR_029734 VAR_029734 disease phenotype-associated VAR_029734 phenoCommon Seizures, benign familial infantile type 3 (BFIS3) [MIM:607745] VAR_029735 commonName VAR_029735 VAR_029735 disease not phenotype-associated VAR_029736 commonName VAR_029736 VAR_029736 disease not phenotype-associated VAR_029737 commonName VAR_029737 VAR_029737 disease phenotype-associated VAR_029737 phenoCommon Seizures, benign familial infantile type 3 (BFIS3) [MIM:607745] VAR_029738 commonName VAR_029738 VAR_029738 disease phenotype-associated VAR_029738 phenoCommon Seizures, benign familial infantile type 3 (BFIS3) [MIM:607745] VAR_029739 commonName VAR_029739 VAR_029739 disease phenotype-associated VAR_029739 phenoCommon Seizures, benign familial infantile type 3 (BFIS3) [MIM:607745] VAR_029740 commonName VAR_029740 VAR_029740 disease phenotype-associated VAR_029740 phenoCommon Seizures, benign familial infantile type 3 (BFIS3) [MIM:607745] VAR_029741 commonName VAR_029741 VAR_029741 disease phenotype-associated VAR_029741 phenoCommon Seizures, benign familial infantile type 3 (BFIS3) [MIM:607745] VAR_029742 commonName VAR_029742 VAR_029746 commonName VAR_029746 VAR_029746 disease not phenotype-associated VAR_029747 commonName VAR_029747 VAR_029747 disease not phenotype-associated VAR_029748 commonName VAR_029748 VAR_029748 disease not phenotype-associated VAR_029749 commonName VAR_029749 VAR_029749 disease not phenotype-associated VAR_029750 commonName VAR_029750 VAR_029750 disease not phenotype-associated VAR_029752 commonName VAR_029752 VAR_029752 disease not phenotype-associated VAR_029753 commonName VAR_029753 VAR_029753 disease not phenotype-associated VAR_029755 commonName VAR_029755 VAR_029755 disease not phenotype-associated VAR_029759 commonName VAR_029759 VAR_029759 disease not phenotype-associated VAR_029762 commonName VAR_029762 VAR_029762 disease not phenotype-associated VAR_029763 commonName VAR_029763 VAR_029763 disease not phenotype-associated VAR_029764 commonName VAR_029764 VAR_029764 disease not phenotype-associated VAR_029765 commonName VAR_029765 VAR_029765 disease not phenotype-associated VAR_029766 commonName VAR_029766 VAR_029766 disease not phenotype-associated VAR_029767 commonName VAR_029767 VAR_029767 disease not phenotype-associated VAR_029768 commonName VAR_029768 VAR_029768 disease not phenotype-associated VAR_029769 commonName VAR_029769 VAR_029769 disease not phenotype-associated VAR_029770 commonName VAR_029770 VAR_029770 disease not phenotype-associated VAR_029771 commonName VAR_029771 VAR_029771 disease not phenotype-associated VAR_029772 commonName VAR_029772 VAR_029772 disease not phenotype-associated VAR_029773 commonName VAR_029773 VAR_029773 disease not phenotype-associated VAR_029774 commonName VAR_029774 VAR_029774 disease not phenotype-associated VAR_029775 commonName VAR_029775 VAR_029775 disease not phenotype-associated VAR_029776 commonName VAR_029776 VAR_029776 disease not phenotype-associated VAR_029777 commonName VAR_029777 VAR_029777 disease not phenotype-associated VAR_029778 commonName VAR_029778 VAR_029778 disease phenotype-associated VAR_029778 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] VAR_029779 commonName VAR_029779 VAR_029779 disease phenotype-associated VAR_029779 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] VAR_029780 commonName VAR_029780 VAR_029780 disease phenotype-associated VAR_029780 phenoCommon Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374] VAR_029781 commonName VAR_029781 VAR_029781 disease phenotype-associated VAR_029781 phenoCommon Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374] HbVar.679 ethnic Babinga Pygmies VAR_029782 commonName VAR_029782 VAR_029782 disease phenotype-associated VAR_029782 phenoCommon Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374] VAR_029783 commonName VAR_029783 VAR_029783 disease phenotype-associated VAR_029783 phenoCommon Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374] VAR_029784 commonName VAR_029784 VAR_029784 disease phenotype-associated VAR_029784 phenoCommon Leucine-induced hypoglycemia (LIH) [MIM:240800] VAR_029785 commonName VAR_029785 VAR_029785 disease phenotype-associated VAR_029785 phenoCommon Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374] VAR_029787 commonName VAR_029787 VAR_029787 disease phenotype-associated VAR_029787 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] VAR_029788 commonName VAR_029788 VAR_029788 disease not phenotype-associated VAR_029789 commonName VAR_029789 VAR_029789 disease not phenotype-associated VAR_029790 commonName VAR_029790 VAR_029790 disease not phenotype-associated VAR_029791 commonName VAR_029791 VAR_029791 disease not phenotype-associated VAR_029792 commonName VAR_029792 VAR_029792 disease not phenotype-associated VAR_029793 commonName VAR_029793 VAR_029793 disease not phenotype-associated VAR_029794 commonName VAR_029794 VAR_029794 disease not phenotype-associated VAR_029795 commonName VAR_029795 VAR_029795 disease not phenotype-associated VAR_029796 commonName VAR_029796 VAR_029796 disease not phenotype-associated VAR_029797 commonName VAR_029797 VAR_029797 disease not phenotype-associated VAR_029799 commonName VAR_029799 VAR_029799 disease not phenotype-associated VAR_029800 commonName VAR_029800 VAR_029800 disease not phenotype-associated VAR_029801 commonName VAR_029801 VAR_029801 disease not phenotype-associated VAR_029802 commonName VAR_029802 VAR_029802 disease not phenotype-associated VAR_029803 commonName VAR_029803 VAR_029803 disease not phenotype-associated VAR_029804 commonName VAR_029804 VAR_029804 disease not phenotype-associated VAR_029805 commonName VAR_029805 VAR_029805 disease not phenotype-associated VAR_029806 commonName VAR_029806 VAR_029806 disease not phenotype-associated VAR_029811 commonName VAR_029811 VAR_029811 disease not phenotype-associated VAR_029814 commonName VAR_029814 VAR_029814 disease not phenotype-associated VAR_029815 commonName VAR_029815 VAR_029815 disease not phenotype-associated VAR_029816 commonName VAR_029816 VAR_029816 disease not phenotype-associated VAR_029817 commonName VAR_029817 VAR_029817 disease not phenotype-associated VAR_029818 commonName VAR_029818 VAR_029818 disease not phenotype-associated VAR_029822 commonName VAR_029822 VAR_029822 disease not phenotype-associated VAR_029823 commonName VAR_029823 VAR_029823 disease not phenotype-associated VAR_029824 commonName VAR_029824 VAR_029824 disease not phenotype-associated VAR_029825 commonName VAR_029825 VAR_029825 disease not phenotype-associated VAR_029826 commonName VAR_029826 VAR_029826 disease not phenotype-associated VAR_029827 commonName VAR_029827 VAR_029827 disease not phenotype-associated VAR_029828 commonName VAR_029828 VAR_029828 disease not phenotype-associated VAR_029829 commonName VAR_029829 VAR_029829 disease not phenotype-associated VAR_029830 commonName VAR_029830 VAR_029830 disease not phenotype-associated VAR_029831 commonName VAR_029831 VAR_029831 disease not phenotype-associated VAR_029832 commonName VAR_029832 VAR_029832 disease not phenotype-associated VAR_029833 commonName VAR_029833 VAR_029833 disease not phenotype-associated VAR_029834 commonName VAR_029834 VAR_029834 disease not phenotype-associated VAR_029835 commonName VAR_029835 VAR_029835 disease not phenotype-associated VAR_029836 commonName VAR_029836 VAR_029836 disease not phenotype-associated VAR_029837 commonName VAR_029837 VAR_029837 disease not phenotype-associated VAR_029838 commonName VAR_029838 VAR_029838 disease not phenotype-associated VAR_029839 commonName VAR_029839 VAR_029839 disease not phenotype-associated VAR_029840 commonName VAR_029840 VAR_029840 disease not phenotype-associated VAR_029841 commonName VAR_029841 VAR_029841 disease not phenotype-associated VAR_029842 commonName VAR_029842 VAR_029842 disease not phenotype-associated VAR_029843 commonName VAR_029843 VAR_029843 disease not phenotype-associated VAR_029844 commonName VAR_029844 VAR_029844 disease not phenotype-associated VAR_029845 commonName VAR_029845 VAR_029845 disease not phenotype-associated VAR_029846 commonName VAR_029846 VAR_029846 disease not phenotype-associated VAR_029847 commonName VAR_029847 VAR_029847 disease not phenotype-associated VAR_029848 commonName VAR_029848 VAR_029848 disease not phenotype-associated VAR_029852 commonName VAR_029852 VAR_029852 disease not phenotype-associated VAR_029853 commonName VAR_029853 VAR_029853 disease not phenotype-associated VAR_029854 commonName VAR_029854 VAR_029854 disease not phenotype-associated VAR_029856 commonName VAR_029856 VAR_029856 disease not phenotype-associated VAR_029857 commonName VAR_029857 VAR_029857 disease not phenotype-associated VAR_029858 commonName VAR_029858 VAR_029858 disease not phenotype-associated VAR_029859 commonName VAR_029859 VAR_029859 disease not phenotype-associated VAR_029861 commonName VAR_029861 VAR_029861 disease not phenotype-associated VAR_029862 commonName VAR_029862 VAR_029862 disease not phenotype-associated VAR_029863 commonName VAR_029863 VAR_029863 disease not phenotype-associated VAR_029864 commonName VAR_029864 VAR_029864 disease not phenotype-associated VAR_029865 commonName VAR_029865 VAR_029865 disease not phenotype-associated VAR_029866 commonName VAR_029866 VAR_029866 disease not phenotype-associated VAR_029867 commonName VAR_029867 VAR_029867 disease not phenotype-associated VAR_029868 commonName VAR_029868 VAR_029868 disease not phenotype-associated VAR_029869 commonName VAR_029869 VAR_029869 disease not phenotype-associated VAR_029870 commonName VAR_029870 VAR_029870 disease not phenotype-associated VAR_029871 commonName VAR_029871 VAR_029871 disease not phenotype-associated VAR_029872 commonName VAR_029872 VAR_029872 disease not phenotype-associated VAR_029873 commonName VAR_029873 VAR_029873 disease not phenotype-associated VAR_029874 commonName VAR_029874 VAR_029874 disease not phenotype-associated VAR_029875 commonName VAR_029875 VAR_029875 disease not phenotype-associated VAR_029876 commonName VAR_029876 VAR_029876 disease phenotype-associated VAR_029876 phenoCommon Charcot-Marie-Tooth disease type 6 (CMT6) [MIM:601152] VAR_029877 commonName VAR_029877 VAR_029877 disease phenotype-associated VAR_029877 phenoCommon Charcot-Marie-Tooth disease type 6 (CMT6) [MIM:601152] VAR_029878 commonName VAR_029878 VAR_029878 disease phenotype-associated VAR_029878 phenoCommon Charcot-Marie-Tooth disease type 6 (CMT6) [MIM:601152] VAR_029879 commonName VAR_029879 VAR_029879 disease phenotype-associated VAR_029879 phenoCommon Charcot-Marie-Tooth disease type 6 (CMT6) [MIM:601152] VAR_029880 commonName VAR_029880 VAR_029880 disease phenotype-associated VAR_029880 phenoCommon Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260] VAR_029880 phenoCommon Charcot-Marie-Tooth disease type 6 (CMT6) [MIM:601152] VAR_029883 commonName VAR_029883 VAR_029883 disease phenotype-associated VAR_029883 phenoCommon Nephrotic syndrome type 3 (NPHS3) [MIM:610725] VAR_029884 commonName VAR_029884 VAR_029884 disease phenotype-associated VAR_029884 phenoCommon Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730] VAR_029885 commonName VAR_029885 VAR_029885 disease phenotype-associated VAR_029885 phenoCommon Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730] VAR_029887 commonName VAR_029887 VAR_029887 disease phenotype-associated VAR_029887 phenoCommon Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730] VAR_029888 commonName VAR_029888 VAR_029888 disease phenotype-associated VAR_029888 phenoCommon Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730] VAR_029889 commonName VAR_029889 VAR_029889 disease phenotype-associated VAR_029889 phenoCommon Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730] VAR_029890 commonName VAR_029890 VAR_029890 disease not phenotype-associated VAR_029891 commonName VAR_029891 VAR_029891 disease not phenotype-associated VAR_029892 commonName VAR_029892 VAR_029892 disease not phenotype-associated VAR_029893 commonName VAR_029893 VAR_029893 disease not phenotype-associated VAR_029895 commonName VAR_029895 VAR_029895 disease phenotype-associated VAR_029895 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029896 commonName VAR_029896 VAR_029896 disease phenotype-associated VAR_029896 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029898 commonName VAR_029898 VAR_029898 disease phenotype-associated VAR_029898 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029899 commonName VAR_029899 VAR_029899 disease phenotype-associated VAR_029899 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029900 commonName VAR_029900 VAR_029900 disease phenotype-associated VAR_029900 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029901 commonName VAR_029901 VAR_029901 disease phenotype-associated VAR_029901 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029902 commonName VAR_029902 VAR_029902 disease phenotype-associated VAR_029902 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029903 commonName VAR_029903 VAR_029903 disease phenotype-associated VAR_029903 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029904 commonName VAR_029904 VAR_029904 disease phenotype-associated VAR_029904 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029905 commonName VAR_029905 VAR_029905 disease phenotype-associated VAR_029905 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029906 commonName VAR_029906 VAR_029906 disease phenotype-associated VAR_029906 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029907 commonName VAR_029907 VAR_029907 disease phenotype-associated VAR_029907 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029908 commonName VAR_029908 VAR_029908 disease phenotype-associated VAR_029908 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029909 commonName VAR_029909 VAR_029909 disease phenotype-associated VAR_029909 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029910 commonName VAR_029910 VAR_029910 disease phenotype-associated VAR_029910 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029911 commonName VAR_029911 VAR_029911 disease phenotype-associated VAR_029911 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029912 commonName VAR_029912 VAR_029912 disease phenotype-associated VAR_029912 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029913 commonName VAR_029913 VAR_029913 disease phenotype-associated VAR_029913 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029914 commonName VAR_029914 VAR_029914 disease phenotype-associated VAR_029914 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029915 commonName VAR_029915 VAR_029915 disease phenotype-associated VAR_029915 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029916 commonName VAR_029916 VAR_029916 disease phenotype-associated VAR_029916 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029917 commonName VAR_029917 VAR_029917 disease phenotype-associated VAR_029917 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029919 commonName VAR_029919 VAR_029919 disease phenotype-associated VAR_029919 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029920 commonName VAR_029920 VAR_029920 disease phenotype-associated VAR_029920 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029922 commonName VAR_029922 VAR_029922 disease phenotype-associated VAR_029922 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029923 commonName VAR_029923 VAR_029923 disease phenotype-associated VAR_029923 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029924 commonName VAR_029924 VAR_029924 disease phenotype-associated VAR_029924 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029925 commonName VAR_029925 VAR_029925 disease phenotype-associated VAR_029925 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029926 commonName VAR_029926 VAR_029926 disease phenotype-associated VAR_029926 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029927 commonName VAR_029927 VAR_029927 disease phenotype-associated VAR_029927 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029928 commonName VAR_029928 VAR_029928 disease phenotype-associated VAR_029928 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029929 commonName VAR_029929 VAR_029929 disease phenotype-associated VAR_029929 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029930 commonName VAR_029930 VAR_029930 disease phenotype-associated VAR_029930 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029931 commonName VAR_029931 VAR_029931 disease phenotype-associated VAR_029931 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029932 commonName VAR_029932 VAR_029932 disease phenotype-associated VAR_029932 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029933 commonName VAR_029933 VAR_029933 disease phenotype-associated VAR_029933 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029934 commonName VAR_029934 VAR_029934 disease phenotype-associated VAR_029934 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029935 commonName VAR_029935 VAR_029935 disease phenotype-associated VAR_029935 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029936 commonName VAR_029936 VAR_029936 disease phenotype-associated VAR_029936 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029937 commonName VAR_029937 VAR_029937 disease phenotype-associated VAR_029937 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029938 commonName VAR_029938 VAR_029938 disease phenotype-associated VAR_029938 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029939 commonName VAR_029939 VAR_029939 disease phenotype-associated VAR_029939 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029940 commonName VAR_029940 VAR_029940 disease phenotype-associated VAR_029940 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029941 commonName VAR_029941 VAR_029941 disease phenotype-associated VAR_029941 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029942 commonName VAR_029942 VAR_029942 disease phenotype-associated VAR_029942 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029943 commonName VAR_029943 VAR_029943 disease phenotype-associated VAR_029943 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029944 commonName VAR_029944 VAR_029944 disease phenotype-associated VAR_029944 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029945 commonName VAR_029945 VAR_029945 disease phenotype-associated VAR_029945 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029946 commonName VAR_029946 VAR_029946 disease phenotype-associated VAR_029946 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029947 commonName VAR_029947 VAR_029947 disease phenotype-associated VAR_029947 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029948 commonName VAR_029948 VAR_029948 disease phenotype-associated VAR_029948 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029949 commonName VAR_029949 VAR_029949 disease phenotype-associated VAR_029949 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029950 commonName VAR_029950 VAR_029950 disease phenotype-associated VAR_029950 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029952 commonName VAR_029952 VAR_029952 disease phenotype-associated VAR_029952 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029953 commonName VAR_029953 VAR_029953 disease phenotype-associated VAR_029953 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029954 commonName VAR_029954 VAR_029954 disease phenotype-associated VAR_029954 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029955 commonName VAR_029955 VAR_029955 disease phenotype-associated VAR_029955 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029956 commonName VAR_029956 VAR_029956 disease phenotype-associated VAR_029956 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029957 commonName VAR_029957 VAR_029957 disease phenotype-associated VAR_029957 phenoCommon Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800] VAR_029958 commonName VAR_029958 VAR_029958 disease phenotype-associated VAR_029958 phenoCommon Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678] VAR_029959 commonName VAR_029959 VAR_029959 disease phenotype-associated VAR_029959 phenoCommon Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678] VAR_029960 commonName VAR_029960 VAR_029960 disease phenotype-associated VAR_029960 phenoCommon Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220] VAR_029960 phenoCommon Hereditary neuropathy with liability to pressure palsies (HNPP) [MIM:162500] VAR_029961 commonName VAR_029961 VAR_029961 disease phenotype-associated VAR_029961 phenoCommon Charcot-Marie-Tooth disease type 1E (CMT1E) [MIM:118300] VAR_029963 commonName VAR_029963 VAR_029963 disease phenotype-associated VAR_029963 phenoCommon Charcot-Marie-Tooth disease type 1E (CMT1E) [MIM:118300] VAR_029964 commonName VAR_029964 VAR_029964 disease phenotype-associated VAR_029964 phenoCommon Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220] VAR_029965 commonName VAR_029965 VAR_029965 disease phenotype-associated VAR_029965 phenoCommon Hereditary neuropathy with liability to pressure palsies (HNPP) [MIM:162500] VAR_029966 commonName VAR_029966 VAR_029966 disease phenotype-associated VAR_029966 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_029967 commonName VAR_029967 VAR_029967 disease phenotype-associated VAR_029967 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_029968 commonName VAR_029968 VAR_029968 disease phenotype-associated VAR_029968 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_029970 commonName VAR_029970 VAR_029970 disease phenotype-associated VAR_029970 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_029971 commonName VAR_029971 VAR_029971 disease phenotype-associated VAR_029971 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_029972 commonName VAR_029972 VAR_029972 disease phenotype-associated VAR_029972 phenoCommon Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677] VAR_029973 commonName VAR_029973 VAR_029973 disease phenotype-associated VAR_029973 phenoCommon Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677] VAR_029974 commonName VAR_029974 VAR_029974 disease phenotype-associated VAR_029974 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_029975 commonName VAR_029975 VAR_029975 disease phenotype-associated VAR_029975 phenoCommon Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736] VAR_029976 commonName VAR_029976 VAR_029976 disease phenotype-associated VAR_029976 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_029977 commonName VAR_029977 VAR_029978 commonName VAR_029978 VAR_029978 disease phenotype-associated VAR_029978 phenoCommon Congenital hypomyelination neuropathy (CHN) [MIM:605253] VAR_029979 commonName VAR_029979 VAR_029979 disease phenotype-associated VAR_029979 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_029980 commonName VAR_029980 VAR_029980 disease phenotype-associated VAR_029980 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_029981 commonName VAR_029981 VAR_029981 disease phenotype-associated VAR_029981 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_029982 commonName VAR_029982 VAR_029982 disease phenotype-associated VAR_029982 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_029983 commonName VAR_029983 VAR_029983 disease phenotype-associated VAR_029983 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_029984 commonName VAR_029984 VAR_029984 disease phenotype-associated VAR_029984 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_029985 commonName VAR_029985 VAR_029985 disease phenotype-associated VAR_029985 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_029989 commonName VAR_029989 VAR_029989 disease not phenotype-associated VAR_029990 commonName VAR_029990 VAR_029990 disease not phenotype-associated VAR_029991 commonName VAR_029991 VAR_029991 disease not phenotype-associated VAR_029992 commonName VAR_029992 VAR_029992 disease not phenotype-associated VAR_029993 commonName VAR_029993 VAR_029993 disease not phenotype-associated VAR_029994 commonName VAR_029994 VAR_029994 disease not phenotype-associated VAR_029995 commonName VAR_029995 VAR_029995 disease not phenotype-associated VAR_029996 commonName VAR_029996 VAR_029996 disease not phenotype-associated VAR_029997 commonName VAR_029997 VAR_029997 disease phenotype-associated VAR_029997 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_029998 commonName VAR_029998 VAR_029998 disease phenotype-associated VAR_029998 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_029999 commonName VAR_029999 VAR_029999 disease phenotype-associated VAR_029999 phenoCommon Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] VAR_030000 commonName VAR_030000 VAR_030000 disease not phenotype-associated VAR_030001 commonName VAR_030001 VAR_030001 disease not phenotype-associated VAR_030002 commonName VAR_030002 VAR_030002 disease not phenotype-associated VAR_030003 commonName VAR_030003 VAR_030003 disease not phenotype-associated VAR_030004 commonName VAR_030004 VAR_030004 disease not phenotype-associated VAR_030005 commonName VAR_030005 VAR_030005 disease not phenotype-associated VAR_030006 commonName VAR_030006 VAR_030006 disease not phenotype-associated VAR_030007 commonName VAR_030007 VAR_030007 disease not phenotype-associated VAR_030008 commonName VAR_030008 VAR_030008 disease not phenotype-associated VAR_030009 commonName VAR_030009 VAR_030009 disease not phenotype-associated VAR_030010 commonName VAR_030010 VAR_030010 disease not phenotype-associated VAR_030011 commonName VAR_030011 VAR_030011 disease not phenotype-associated VAR_030012 commonName VAR_030012 VAR_030012 disease not phenotype-associated VAR_030013 commonName VAR_030013 VAR_030013 disease not phenotype-associated VAR_030014 commonName VAR_030014 VAR_030014 disease not phenotype-associated VAR_030015 commonName VAR_030015 VAR_030015 disease not phenotype-associated VAR_030016 commonName VAR_030016 VAR_030016 disease not phenotype-associated VAR_030017 commonName VAR_030017 VAR_030017 disease not phenotype-associated VAR_030018 commonName VAR_030018 VAR_030018 disease not phenotype-associated VAR_030019 commonName VAR_030019 VAR_030019 disease phenotype-associated VAR_030019 phenoCommon 46,XY sex reversal type 1 (SRXY1) [MIM:400044] VAR_030020 commonName VAR_030020 VAR_030021 commonName VAR_030021 VAR_030021 disease phenotype-associated VAR_030021 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219] VAR_030022 commonName VAR_030022 VAR_030022 disease phenotype-associated VAR_030022 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219] VAR_030023 commonName VAR_030023 VAR_030023 disease phenotype-associated VAR_030023 phenoCommon Cataract zonular pulverulent cataract type 3 (CZP3) [MIM:601885] VAR_030024 commonName VAR_030024 VAR_030024 disease not phenotype-associated VAR_030025 commonName VAR_030025 VAR_030025 disease not phenotype-associated VAR_030026 commonName VAR_030026 VAR_030026 disease phenotype-associated VAR_030026 phenoCommon Dystonia juvenile-onset (DYTJ) [MIM:607371] VAR_030027 commonName VAR_030027 VAR_030027 disease not phenotype-associated VAR_030028 commonName VAR_030028 VAR_030028 disease phenotype-associated VAR_030028 phenoCommon Brain small vessel disease with hemorrhage (BSVDH) [MIM:607595] VAR_030029 commonName VAR_030029 VAR_030029 disease phenotype-associated VAR_030029 phenoCommon Familial porencephaly (POREN1) [MIM:175780] VAR_030030 commonName VAR_030030 VAR_030030 disease phenotype-associated VAR_030030 phenoCommon Familial porencephaly (POREN1) [MIM:175780] VAR_030031 commonName VAR_030031 VAR_030031 disease phenotype-associated VAR_030031 phenoCommon Familial porencephaly (POREN1) [MIM:175780] VAR_030032 commonName VAR_030032 VAR_030032 disease phenotype-associated VAR_030032 phenoCommon Familial porencephaly (POREN1) [MIM:175780] VAR_030033 commonName VAR_030033 VAR_030033 disease not phenotype-associated VAR_030034 commonName VAR_030034 VAR_030034 disease not phenotype-associated VAR_030035 commonName VAR_030035 VAR_030035 disease not phenotype-associated VAR_030036 commonName VAR_030036 VAR_030036 disease not phenotype-associated VAR_030037 commonName VAR_030037 VAR_030037 disease not phenotype-associated VAR_030038 commonName VAR_030038 VAR_030038 disease not phenotype-associated VAR_030039 commonName VAR_030039 VAR_030039 disease not phenotype-associated VAR_030040 commonName VAR_030040 VAR_030040 disease not phenotype-associated VAR_030042 commonName VAR_030042 VAR_030042 disease not phenotype-associated VAR_030044 commonName VAR_030044 VAR_030044 disease not phenotype-associated VAR_030045 commonName VAR_030045 VAR_030045 disease not phenotype-associated VAR_030046 commonName VAR_030046 VAR_030046 disease phenotype-associated VAR_030046 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300] VAR_030047 commonName VAR_030047 VAR_030047 disease phenotype-associated VAR_030047 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300] VAR_030048 commonName VAR_030048 VAR_030048 disease phenotype-associated VAR_030048 phenoCommon Popliteal pterygium syndrome (PPS) [MIM:119500] VAR_030048 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300] VAR_030049 commonName VAR_030049 VAR_030049 disease phenotype-associated VAR_030049 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300] VAR_030050 commonName VAR_030050 VAR_030050 disease phenotype-associated VAR_030050 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300] VAR_030051 commonName VAR_030051 VAR_030051 disease phenotype-associated VAR_030051 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300] VAR_030052 commonName VAR_030052 VAR_030052 disease phenotype-associated VAR_030052 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300] VAR_030053 commonName VAR_030053 VAR_030053 disease phenotype-associated VAR_030053 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300] VAR_030054 commonName VAR_030054 VAR_030054 disease phenotype-associated VAR_030054 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300] VAR_030057 commonName VAR_030057 VAR_030057 disease phenotype-associated VAR_030057 phenoCommon Hemochromatosis type 4 (HFE4) [MIM:606069] VAR_030058 commonName VAR_030058 VAR_030059 commonName VAR_030059 VAR_030059 disease phenotype-associated VAR_030059 phenoCommon Hemochromatosis type 4 (HFE4) [MIM:606069] VAR_030060 commonName VAR_030060 VAR_030060 disease phenotype-associated VAR_030060 phenoCommon Hemochromatosis type 4 (HFE4) [MIM:606069] VAR_030061 commonName VAR_030061 VAR_030061 disease phenotype-associated VAR_030061 phenoCommon Hemochromatosis type 4 (HFE4) [MIM:606069] VAR_030062 commonName VAR_030062 VAR_030063 commonName VAR_030063 VAR_030063 disease phenotype-associated VAR_030063 phenoCommon Hemochromatosis type 4 (HFE4) [MIM:606069] VAR_030064 commonName VAR_030064 VAR_030064 disease phenotype-associated VAR_030064 phenoCommon Hemochromatosis type 4 (HFE4) [MIM:606069] VAR_030065 commonName VAR_030065 VAR_030065 disease phenotype-associated VAR_030065 phenoCommon Hemochromatosis type 4 (HFE4) [MIM:606069] VAR_030066 commonName VAR_030066 VAR_030067 commonName VAR_030067 VAR_030068 commonName VAR_030068 VAR_030068 disease not phenotype-associated VAR_030069 commonName VAR_030069 VAR_030069 disease not phenotype-associated VAR_030070 commonName VAR_030070 VAR_030070 disease not phenotype-associated VAR_030071 commonName VAR_030071 VAR_030071 disease not phenotype-associated VAR_030072 commonName VAR_030072 VAR_030072 disease not phenotype-associated VAR_030073 commonName VAR_030073 VAR_030073 disease not phenotype-associated VAR_030074 commonName VAR_030074 VAR_030074 disease not phenotype-associated VAR_030075 commonName VAR_030075 VAR_030075 disease not phenotype-associated VAR_030076 commonName VAR_030076 VAR_030076 disease not phenotype-associated VAR_030077 commonName VAR_030077 VAR_030077 disease not phenotype-associated VAR_030078 commonName VAR_030078 VAR_030078 disease not phenotype-associated VAR_030079 commonName VAR_030079 VAR_030079 disease not phenotype-associated VAR_030080 commonName VAR_030080 VAR_030080 disease not phenotype-associated VAR_030081 commonName VAR_030081 VAR_030081 disease not phenotype-associated VAR_030082 commonName VAR_030082 VAR_030082 disease not phenotype-associated VAR_030083 commonName VAR_030083 VAR_030083 disease phenotype-associated VAR_030083 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] VAR_030084 commonName VAR_030084 VAR_030084 disease phenotype-associated VAR_030084 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] VAR_030085 commonName VAR_030085 VAR_030085 disease phenotype-associated VAR_030085 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] VAR_030086 commonName VAR_030086 VAR_030086 disease phenotype-associated VAR_030086 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] VAR_030087 commonName VAR_030087 VAR_030087 disease phenotype-associated VAR_030087 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] VAR_030088 commonName VAR_030088 VAR_030088 disease phenotype-associated VAR_030088 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] VAR_030089 commonName VAR_030089 VAR_030089 disease phenotype-associated VAR_030089 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] VAR_030090 commonName VAR_030090 VAR_030090 disease phenotype-associated VAR_030090 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] VAR_030091 commonName VAR_030091 VAR_030091 disease not phenotype-associated VAR_030092 commonName VAR_030092 VAR_030092 disease not phenotype-associated VAR_030093 commonName VAR_030093 VAR_030093 disease not phenotype-associated VAR_030095 commonName VAR_030095 VAR_030095 disease not phenotype-associated VAR_030096 commonName VAR_030096 VAR_030096 disease not phenotype-associated VAR_030097 commonName VAR_030097 VAR_030097 disease not phenotype-associated VAR_030098 commonName VAR_030098 VAR_030098 disease not phenotype-associated VAR_030101 commonName VAR_030101 VAR_030101 disease not phenotype-associated VAR_030102 commonName VAR_030102 VAR_030102 disease not phenotype-associated VAR_030103 commonName VAR_030103 VAR_030103 disease not phenotype-associated VAR_030104 commonName VAR_030104 VAR_030104 disease not phenotype-associated VAR_030105 commonName VAR_030105 VAR_030105 disease not phenotype-associated VAR_030106 commonName VAR_030106 VAR_030106 disease not phenotype-associated VAR_030107 commonName VAR_030107 VAR_030107 disease not phenotype-associated VAR_030108 commonName VAR_030108 VAR_030108 disease not phenotype-associated VAR_030109 commonName VAR_030109 VAR_030109 disease not phenotype-associated VAR_030110 commonName VAR_030110 VAR_030110 disease not phenotype-associated VAR_030111 commonName VAR_030111 VAR_030111 disease not phenotype-associated VAR_030112 commonName VAR_030112 VAR_030112 disease not phenotype-associated VAR_030113 commonName VAR_030113 VAR_030113 disease not phenotype-associated VAR_030114 commonName VAR_030114 VAR_030114 disease not phenotype-associated VAR_030115 commonName VAR_030115 VAR_030115 disease not phenotype-associated VAR_030116 commonName VAR_030116 VAR_030116 disease not phenotype-associated VAR_030118 commonName VAR_030118 VAR_030118 disease not phenotype-associated VAR_030119 commonName VAR_030119 VAR_030119 disease not phenotype-associated VAR_030121 commonName VAR_030121 VAR_030121 disease not phenotype-associated VAR_030122 commonName VAR_030122 VAR_030122 disease not phenotype-associated VAR_030123 commonName VAR_030123 VAR_030123 disease not phenotype-associated VAR_030124 commonName VAR_030124 VAR_030124 disease not phenotype-associated VAR_030126 commonName VAR_030126 VAR_030126 disease not phenotype-associated VAR_030127 commonName VAR_030127 VAR_030127 disease not phenotype-associated VAR_030129 commonName VAR_030129 VAR_030129 disease not phenotype-associated VAR_030130 commonName VAR_030130 VAR_030130 disease not phenotype-associated VAR_030131 commonName VAR_030131 VAR_030131 disease not phenotype-associated VAR_030132 commonName VAR_030132 VAR_030132 disease not phenotype-associated VAR_030133 commonName VAR_030133 VAR_030133 disease not phenotype-associated VAR_030134 commonName VAR_030134 VAR_030134 disease not phenotype-associated VAR_030135 commonName VAR_030135 VAR_030135 disease not phenotype-associated VAR_030136 commonName VAR_030136 VAR_030136 disease not phenotype-associated VAR_030137 commonName VAR_030137 VAR_030137 disease not phenotype-associated VAR_030138 commonName VAR_030138 VAR_030138 disease not phenotype-associated VAR_030139 commonName VAR_030139 VAR_030139 disease not phenotype-associated VAR_030140 commonName VAR_030140 VAR_030140 disease not phenotype-associated VAR_030141 commonName VAR_030141 VAR_030141 disease not phenotype-associated VAR_030142 commonName VAR_030142 VAR_030142 disease not phenotype-associated VAR_030143 commonName VAR_030143 VAR_030143 disease not phenotype-associated VAR_030144 commonName VAR_030144 VAR_030144 disease not phenotype-associated VAR_030145 commonName VAR_030145 VAR_030145 disease not phenotype-associated VAR_030146 commonName VAR_030146 VAR_030146 disease not phenotype-associated VAR_030147 commonName VAR_030147 VAR_030147 disease not phenotype-associated VAR_030148 commonName VAR_030148 VAR_030148 disease not phenotype-associated VAR_030149 commonName VAR_030149 VAR_030149 disease not phenotype-associated VAR_030150 commonName VAR_030150 VAR_030150 disease not phenotype-associated VAR_030151 commonName VAR_030151 VAR_030151 disease not phenotype-associated VAR_030152 commonName VAR_030152 VAR_030152 disease not phenotype-associated VAR_030153 commonName VAR_030153 VAR_030153 disease not phenotype-associated VAR_030154 commonName VAR_030154 VAR_030154 disease not phenotype-associated VAR_030158 commonName VAR_030158 VAR_030158 disease not phenotype-associated VAR_030159 commonName VAR_030159 VAR_030159 disease not phenotype-associated VAR_030164 commonName VAR_030164 VAR_030164 disease not phenotype-associated VAR_030165 commonName VAR_030165 VAR_030165 disease not phenotype-associated VAR_030166 commonName VAR_030166 VAR_030166 disease not phenotype-associated VAR_030167 commonName VAR_030167 VAR_030167 disease not phenotype-associated VAR_030168 commonName VAR_030168 VAR_030168 disease not phenotype-associated VAR_030169 commonName VAR_030169 VAR_030169 disease not phenotype-associated VAR_030170 commonName VAR_030170 VAR_030170 disease not phenotype-associated VAR_030171 commonName VAR_030171 VAR_030171 disease not phenotype-associated VAR_030172 commonName VAR_030172 VAR_030172 disease not phenotype-associated VAR_030173 commonName VAR_030173 VAR_030173 disease not phenotype-associated VAR_030174 commonName VAR_030174 VAR_030174 disease not phenotype-associated VAR_030175 commonName VAR_030175 VAR_030175 disease not phenotype-associated VAR_030176 commonName VAR_030176 VAR_030176 disease not phenotype-associated VAR_030177 commonName VAR_030177 VAR_030177 disease not phenotype-associated VAR_030178 commonName VAR_030178 VAR_030178 disease not phenotype-associated VAR_030179 commonName VAR_030179 VAR_030179 disease not phenotype-associated VAR_030180 commonName VAR_030180 VAR_030180 disease not phenotype-associated VAR_030181 commonName VAR_030181 VAR_030181 disease not phenotype-associated VAR_030182 commonName VAR_030182 VAR_030182 disease not phenotype-associated VAR_030183 commonName VAR_030183 VAR_030183 disease not phenotype-associated VAR_030184 commonName VAR_030184 VAR_030184 disease not phenotype-associated VAR_030185 commonName VAR_030185 VAR_030185 disease not phenotype-associated VAR_030193 commonName VAR_030193 VAR_030193 disease not phenotype-associated VAR_030194 commonName VAR_030194 VAR_030194 disease not phenotype-associated VAR_030195 commonName VAR_030195 VAR_030195 disease not phenotype-associated VAR_030196 commonName VAR_030196 VAR_030196 disease not phenotype-associated VAR_030197 commonName VAR_030197 VAR_030197 disease not phenotype-associated VAR_030198 commonName VAR_030198 VAR_030198 disease not phenotype-associated VAR_030199 commonName VAR_030199 VAR_030199 disease not phenotype-associated VAR_030200 commonName VAR_030200 VAR_030200 disease not phenotype-associated VAR_030201 commonName VAR_030201 VAR_030201 disease not phenotype-associated VAR_030202 commonName VAR_030202 VAR_030202 disease not phenotype-associated VAR_030203 commonName VAR_030203 VAR_030203 disease not phenotype-associated VAR_030204 commonName VAR_030204 VAR_030204 disease not phenotype-associated VAR_030205 commonName VAR_030205 VAR_030205 disease not phenotype-associated VAR_030206 commonName VAR_030206 VAR_030206 disease not phenotype-associated VAR_030207 commonName VAR_030207 VAR_030207 disease not phenotype-associated VAR_030208 commonName VAR_030208 VAR_030208 disease not phenotype-associated VAR_030209 commonName VAR_030209 VAR_030209 disease not phenotype-associated VAR_030210 commonName VAR_030210 VAR_030210 disease not phenotype-associated VAR_030214 commonName VAR_030214 VAR_030214 disease not phenotype-associated VAR_030215 commonName VAR_030215 VAR_030215 disease not phenotype-associated VAR_030216 commonName VAR_030216 VAR_030216 disease not phenotype-associated VAR_030217 commonName VAR_030217 VAR_030217 disease not phenotype-associated VAR_030218 commonName VAR_030218 VAR_030218 disease not phenotype-associated VAR_030220 commonName VAR_030220 VAR_030220 disease not phenotype-associated VAR_030221 commonName VAR_030221 VAR_030221 disease not phenotype-associated VAR_030222 commonName VAR_030222 VAR_030222 disease not phenotype-associated VAR_030223 commonName VAR_030223 VAR_030223 disease not phenotype-associated VAR_030224 commonName VAR_030224 VAR_030224 disease not phenotype-associated VAR_030225 commonName VAR_030225 VAR_030225 disease not phenotype-associated VAR_030226 commonName VAR_030226 VAR_030226 disease not phenotype-associated VAR_030227 commonName VAR_030227 VAR_030227 disease not phenotype-associated VAR_030228 commonName VAR_030228 VAR_030228 disease not phenotype-associated VAR_030229 commonName VAR_030229 VAR_030229 disease not phenotype-associated VAR_030230 commonName VAR_030230 VAR_030230 disease not phenotype-associated VAR_030231 commonName VAR_030231 VAR_030231 disease not phenotype-associated VAR_030232 commonName VAR_030232 VAR_030232 disease not phenotype-associated VAR_030233 commonName VAR_030233 VAR_030233 disease not phenotype-associated VAR_030234 commonName VAR_030234 VAR_030234 disease not phenotype-associated VAR_030235 commonName VAR_030235 VAR_030235 disease not phenotype-associated VAR_030236 commonName VAR_030236 VAR_030236 disease not phenotype-associated VAR_030237 commonName VAR_030237 VAR_030237 disease not phenotype-associated VAR_030238 commonName VAR_030238 VAR_030238 disease not phenotype-associated VAR_030239 commonName VAR_030239 VAR_030239 disease not phenotype-associated VAR_030240 commonName VAR_030240 VAR_030240 disease not phenotype-associated VAR_030241 commonName VAR_030241 VAR_030241 disease not phenotype-associated VAR_030242 commonName VAR_030242 VAR_030242 disease not phenotype-associated VAR_030246 commonName VAR_030246 VAR_030246 disease not phenotype-associated VAR_030247 commonName VAR_030247 VAR_030247 disease not phenotype-associated VAR_030248 commonName VAR_030248 VAR_030248 disease not phenotype-associated VAR_030249 commonName VAR_030249 VAR_030249 disease not phenotype-associated VAR_030250 commonName VAR_030250 VAR_030250 disease not phenotype-associated VAR_030252 commonName VAR_030252 VAR_030252 disease not phenotype-associated VAR_030253 commonName VAR_030253 VAR_030253 disease not phenotype-associated VAR_030254 commonName VAR_030254 VAR_030254 disease not phenotype-associated VAR_030255 commonName VAR_030255 VAR_030255 disease not phenotype-associated VAR_030256 commonName VAR_030256 VAR_030256 disease not phenotype-associated VAR_030260 commonName VAR_030260 VAR_030260 disease not phenotype-associated VAR_030261 commonName VAR_030261 VAR_030261 disease not phenotype-associated VAR_030262 commonName VAR_030262 VAR_030262 disease not phenotype-associated VAR_030263 commonName VAR_030263 VAR_030263 disease not phenotype-associated VAR_030264 commonName VAR_030264 VAR_030264 disease not phenotype-associated VAR_030265 commonName VAR_030265 VAR_030265 disease not phenotype-associated VAR_030266 commonName VAR_030266 VAR_030266 disease not phenotype-associated VAR_030269 commonName VAR_030269 VAR_030269 disease not phenotype-associated VAR_030270 commonName VAR_030270 VAR_030270 disease not phenotype-associated VAR_030271 commonName VAR_030271 VAR_030271 disease not phenotype-associated VAR_030272 commonName VAR_030272 VAR_030272 disease not phenotype-associated VAR_030273 commonName VAR_030273 VAR_030273 disease not phenotype-associated VAR_030274 commonName VAR_030274 VAR_030274 disease not phenotype-associated VAR_030275 commonName VAR_030275 VAR_030275 disease not phenotype-associated VAR_030276 commonName VAR_030276 VAR_030276 disease not phenotype-associated VAR_030277 commonName VAR_030277 VAR_030277 disease not phenotype-associated VAR_030278 commonName VAR_030278 VAR_030278 disease not phenotype-associated VAR_030279 commonName VAR_030279 VAR_030279 disease not phenotype-associated VAR_030280 commonName VAR_030280 VAR_030280 disease not phenotype-associated VAR_030281 commonName VAR_030281 VAR_030281 disease not phenotype-associated VAR_030284 commonName VAR_030284 VAR_030284 disease not phenotype-associated VAR_030285 commonName VAR_030285 VAR_030285 disease not phenotype-associated VAR_030286 commonName VAR_030286 VAR_030286 disease not phenotype-associated VAR_030287 commonName VAR_030287 VAR_030287 disease not phenotype-associated VAR_030288 commonName VAR_030288 VAR_030288 disease not phenotype-associated VAR_030291 commonName VAR_030291 VAR_030291 disease not phenotype-associated VAR_030292 commonName VAR_030292 VAR_030292 disease not phenotype-associated VAR_030293 commonName VAR_030293 VAR_030293 disease not phenotype-associated VAR_030294 commonName VAR_030294 VAR_030294 disease not phenotype-associated VAR_030295 commonName VAR_030295 VAR_030295 disease not phenotype-associated VAR_030296 commonName VAR_030296 VAR_030296 disease not phenotype-associated VAR_030297 commonName VAR_030297 VAR_030297 disease not phenotype-associated VAR_030298 commonName VAR_030298 VAR_030298 disease not phenotype-associated VAR_030299 commonName VAR_030299 VAR_030299 disease not phenotype-associated VAR_030300 commonName VAR_030300 VAR_030300 disease not phenotype-associated VAR_030301 commonName VAR_030301 VAR_030301 disease not phenotype-associated VAR_030302 commonName VAR_030302 VAR_030302 disease not phenotype-associated VAR_030303 commonName VAR_030303 VAR_030303 disease not phenotype-associated VAR_030304 commonName VAR_030304 VAR_030304 disease not phenotype-associated VAR_030305 commonName VAR_030305 VAR_030305 disease not phenotype-associated VAR_030306 commonName VAR_030306 VAR_030306 disease not phenotype-associated VAR_030309 commonName VAR_030309 VAR_030309 disease not phenotype-associated VAR_030310 commonName VAR_030310 VAR_030310 disease not phenotype-associated VAR_030311 commonName VAR_030311 VAR_030311 disease not phenotype-associated VAR_030312 commonName VAR_030312 VAR_030312 disease phenotype-associated VAR_030312 phenoCommon Bilateral perisylvian polymicrogyria (BPP) [MIM:300388] VAR_030313 commonName VAR_030313 VAR_030313 disease not phenotype-associated VAR_030314 commonName VAR_030314 VAR_030314 disease phenotype-associated VAR_030314 phenoCommon Rolandic epilepsy with speech dyspraxia and mental retardation X-linked (RESDX) [MIM:300643] VAR_030315 commonName VAR_030315 VAR_030315 disease not phenotype-associated VAR_030316 commonName VAR_030316 VAR_030316 disease not phenotype-associated VAR_030317 commonName VAR_030317 VAR_030317 disease not phenotype-associated VAR_030318 commonName VAR_030318 VAR_030318 disease not phenotype-associated VAR_030320 commonName VAR_030320 VAR_030320 disease not phenotype-associated VAR_030321 commonName VAR_030321 VAR_030321 disease not phenotype-associated VAR_030322 commonName VAR_030322 VAR_030322 disease not phenotype-associated VAR_030325 commonName VAR_030325 VAR_030325 disease not phenotype-associated VAR_030326 commonName VAR_030326 VAR_030326 disease not phenotype-associated VAR_030327 commonName VAR_030327 VAR_030327 disease not phenotype-associated VAR_030328 commonName VAR_030328 VAR_030328 disease not phenotype-associated VAR_030329 commonName VAR_030329 VAR_030329 disease not phenotype-associated VAR_030330 commonName VAR_030330 VAR_030330 disease not phenotype-associated VAR_030331 commonName VAR_030331 VAR_030331 disease not phenotype-associated VAR_030332 commonName VAR_030332 VAR_030332 disease not phenotype-associated VAR_030333 commonName VAR_030333 VAR_030333 disease not phenotype-associated VAR_030334 commonName VAR_030334 VAR_030334 disease not phenotype-associated VAR_030335 commonName VAR_030335 VAR_030335 disease not phenotype-associated VAR_030336 commonName VAR_030336 VAR_030336 disease not phenotype-associated VAR_030337 commonName VAR_030337 VAR_030337 disease not phenotype-associated VAR_030338 commonName VAR_030338 VAR_030338 disease not phenotype-associated VAR_030339 commonName VAR_030339 VAR_030339 disease not phenotype-associated VAR_030340 commonName VAR_030340 VAR_030340 disease not phenotype-associated VAR_030341 commonName VAR_030341 VAR_030341 disease not phenotype-associated VAR_030343 commonName VAR_030343 VAR_030343 disease phenotype-associated VAR_030343 phenoCommon Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923] VAR_030345 commonName VAR_030345 VAR_030345 disease phenotype-associated VAR_030345 phenoCommon Usher syndrome type 3A (USH3A) [MIM:276902] VAR_030346 commonName VAR_030346 VAR_030346 disease phenotype-associated VAR_030346 phenoCommon Usher syndrome type 3A (USH3A) [MIM:276902] VAR_030347 commonName VAR_030347 VAR_030347 disease not phenotype-associated VAR_030348 commonName VAR_030348 VAR_030348 disease not phenotype-associated VAR_030349 commonName VAR_030349 VAR_030349 disease not phenotype-associated VAR_030350 commonName VAR_030350 VAR_030350 disease not phenotype-associated VAR_030351 commonName VAR_030351 VAR_030351 disease not phenotype-associated VAR_030352 commonName VAR_030352 VAR_030352 disease not phenotype-associated VAR_030353 commonName VAR_030353 VAR_030353 disease not phenotype-associated VAR_030355 commonName VAR_030355 VAR_030355 disease not phenotype-associated VAR_030356 commonName VAR_030356 VAR_030356 disease not phenotype-associated VAR_030357 commonName VAR_030357 VAR_030357 disease not phenotype-associated VAR_030359 commonName VAR_030359 VAR_030359 disease not phenotype-associated VAR_030360 commonName VAR_030360 VAR_030360 disease not phenotype-associated VAR_030362 commonName VAR_030362 VAR_030362 disease not phenotype-associated VAR_030363 commonName VAR_030363 VAR_030363 disease not phenotype-associated VAR_030364 commonName VAR_030364 VAR_030364 disease not phenotype-associated VAR_030365 commonName VAR_030365 VAR_030365 disease not phenotype-associated VAR_030366 commonName VAR_030366 VAR_030366 disease not phenotype-associated VAR_030367 commonName VAR_030367 VAR_030367 disease not phenotype-associated VAR_030368 commonName VAR_030368 VAR_030368 disease not phenotype-associated VAR_030369 commonName VAR_030369 VAR_030369 disease not phenotype-associated VAR_030370 commonName VAR_030370 VAR_030370 disease phenotype-associated VAR_030370 phenoCommon Distal arthrogryposis type 2A (DA2A) [MIM:193700] VAR_030370 phenoCommon Distal arthrogryposis type 2B (DA2B) [MIM:601680] VAR_030371 commonName VAR_030371 VAR_030371 disease phenotype-associated VAR_030371 phenoCommon Distal arthrogryposis type 2B (DA2B) [MIM:601680] VAR_030372 commonName VAR_030372 VAR_030372 disease phenotype-associated VAR_030372 phenoCommon Distal arthrogryposis type 2B (DA2B) [MIM:601680] VAR_030373 commonName VAR_030373 VAR_030373 disease phenotype-associated VAR_030373 phenoCommon Distal arthrogryposis type 2B (DA2B) [MIM:601680] VAR_030374 commonName VAR_030374 VAR_030374 disease phenotype-associated VAR_030374 phenoCommon Distal arthrogryposis type 2A (DA2A) [MIM:193700] VAR_030375 commonName VAR_030375 VAR_030375 disease phenotype-associated VAR_030375 phenoCommon Distal arthrogryposis type 2B (DA2B) [MIM:601680] VAR_030376 commonName VAR_030376 VAR_030376 disease phenotype-associated VAR_030376 phenoCommon Distal arthrogryposis type 2A (DA2A) [MIM:193700] VAR_030377 commonName VAR_030377 VAR_030377 disease phenotype-associated VAR_030377 phenoCommon Distal arthrogryposis type 2A (DA2A) [MIM:193700] VAR_030378 commonName VAR_030378 VAR_030378 disease phenotype-associated VAR_030378 phenoCommon Distal arthrogryposis type 2A (DA2A) [MIM:193700] VAR_030379 commonName VAR_030379 VAR_030379 disease phenotype-associated VAR_030379 phenoCommon Distal arthrogryposis type 2B (DA2B) [MIM:601680] VAR_030380 commonName VAR_030380 VAR_030380 disease phenotype-associated VAR_030380 phenoCommon Distal arthrogryposis type 2A (DA2A) [MIM:193700] VAR_030381 commonName VAR_030381 VAR_030381 disease phenotype-associated VAR_030381 phenoCommon Distal arthrogryposis type 2B (DA2B) [MIM:601680] VAR_030383 commonName VAR_030383 VAR_030383 disease phenotype-associated VAR_030383 phenoCommon Distal arthrogryposis type 2B (DA2B) [MIM:601680] VAR_030384 commonName VAR_030384 VAR_030384 disease phenotype-associated VAR_030384 phenoCommon Distal arthrogryposis type 2B (DA2B) [MIM:601680] VAR_030385 commonName VAR_030385 VAR_030385 disease phenotype-associated VAR_030385 phenoCommon Epstein syndrome (EPS) [MIM:153650] VAR_030386 commonName VAR_030386 VAR_030386 disease phenotype-associated VAR_030386 phenoCommon Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479] VAR_030387 commonName VAR_030387 VAR_030387 disease not phenotype-associated VAR_030388 commonName VAR_030388 VAR_030388 disease phenotype-associated VAR_030388 phenoCommon Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847] VAR_030389 commonName VAR_030389 VAR_030389 disease not phenotype-associated VAR_030390 commonName VAR_030390 VAR_030390 disease phenotype-associated VAR_030390 phenoCommon Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847] VAR_030391 commonName VAR_030391 VAR_030391 disease phenotype-associated VAR_030391 phenoCommon Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479] VAR_030392 commonName VAR_030392 VAR_030392 disease phenotype-associated VAR_030392 phenoCommon Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479] VAR_030393 commonName VAR_030393 VAR_030393 disease not phenotype-associated VAR_030399 commonName VAR_030399 VAR_030399 disease phenotype-associated VAR_030399 phenoCommon Nail disorder non-syndromic congenital type 4 (NDNC4) [MIM:206800] VAR_030400 commonName VAR_030400 VAR_030400 disease phenotype-associated VAR_030400 phenoCommon Nail disorder non-syndromic congenital type 4 (NDNC4) [MIM:206800] VAR_030401 commonName VAR_030401 VAR_030401 disease phenotype-associated VAR_030401 phenoCommon Nail disorder non-syndromic congenital type 4 (NDNC4) [MIM:206800] VAR_030402 commonName VAR_030402 VAR_030402 disease phenotype-associated VAR_030402 phenoCommon Nail disorder non-syndromic congenital type 4 (NDNC4) [MIM:206800] VAR_030403 commonName VAR_030403 VAR_030403 disease not phenotype-associated VAR_030404 commonName VAR_030404 VAR_030404 disease phenotype-associated VAR_030404 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] VAR_030405 commonName VAR_030405 VAR_030405 disease phenotype-associated VAR_030405 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] VAR_030406 commonName VAR_030406 VAR_030406 disease phenotype-associated VAR_030406 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] VAR_030407 commonName VAR_030407 VAR_030407 disease phenotype-associated VAR_030407 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] VAR_030408 commonName VAR_030408 VAR_030408 disease phenotype-associated VAR_030408 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] VAR_030409 commonName VAR_030409 VAR_030409 disease phenotype-associated VAR_030409 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] VAR_030410 commonName VAR_030410 VAR_030410 disease phenotype-associated VAR_030410 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] VAR_030411 commonName VAR_030411 VAR_030411 disease phenotype-associated VAR_030411 phenoCommon Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350] VAR_030412 commonName VAR_030412 VAR_030412 disease phenotype-associated VAR_030412 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] VAR_030414 commonName VAR_030414 VAR_030414 disease phenotype-associated VAR_030414 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] VAR_030415 commonName VAR_030415 VAR_030415 disease phenotype-associated VAR_030415 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] VAR_030416 commonName VAR_030416 VAR_030416 disease phenotype-associated VAR_030416 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] VAR_030417 commonName VAR_030417 VAR_030417 disease not phenotype-associated VAR_030418 commonName VAR_030418 VAR_030418 disease phenotype-associated VAR_030418 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] VAR_030419 commonName VAR_030419 VAR_030419 disease phenotype-associated VAR_030419 phenoCommon Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] VAR_030420 commonName VAR_030420 VAR_030420 disease not phenotype-associated VAR_030421 commonName VAR_030421 VAR_030421 disease not phenotype-associated VAR_030422 commonName VAR_030422 VAR_030422 disease not phenotype-associated VAR_030423 commonName VAR_030423 VAR_030423 disease phenotype-associated VAR_030423 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_030424 commonName VAR_030424 VAR_030424 disease phenotype-associated VAR_030424 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_030425 commonName VAR_030425 VAR_030425 disease phenotype-associated VAR_030425 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_030426 commonName VAR_030426 VAR_030426 disease phenotype-associated VAR_030426 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_030427 commonName VAR_030427 VAR_030427 disease phenotype-associated VAR_030427 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_030428 commonName VAR_030428 VAR_030428 disease phenotype-associated VAR_030428 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_030429 commonName VAR_030429 VAR_030429 disease phenotype-associated VAR_030429 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_030430 commonName VAR_030430 VAR_030430 disease phenotype-associated VAR_030430 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_030431 commonName VAR_030431 VAR_030431 disease phenotype-associated VAR_030431 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_030432 commonName VAR_030432 VAR_030432 disease phenotype-associated VAR_030432 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_030433 commonName VAR_030433 VAR_030433 disease phenotype-associated VAR_030433 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_030434 commonName VAR_030434 VAR_030434 disease phenotype-associated VAR_030434 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_030435 commonName VAR_030435 VAR_030435 disease phenotype-associated VAR_030435 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_030436 commonName VAR_030436 VAR_030436 disease phenotype-associated VAR_030436 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_030437 commonName VAR_030437 VAR_030437 disease not phenotype-associated VAR_030438 commonName VAR_030438 VAR_030438 disease phenotype-associated VAR_030438 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_030439 commonName VAR_030439 VAR_030439 disease phenotype-associated VAR_030439 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_030440 commonName VAR_030440 VAR_030440 disease phenotype-associated VAR_030440 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_030441 commonName VAR_030441 VAR_030441 disease phenotype-associated VAR_030441 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_030442 commonName VAR_030442 VAR_030442 disease not phenotype-associated VAR_030443 commonName VAR_030443 VAR_030443 disease not phenotype-associated VAR_030445 commonName VAR_030445 VAR_030445 disease phenotype-associated VAR_030445 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030446 commonName VAR_030446 VAR_030446 disease phenotype-associated VAR_030446 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030447 commonName VAR_030447 VAR_030447 disease phenotype-associated VAR_030447 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030448 commonName VAR_030448 VAR_030448 disease phenotype-associated VAR_030448 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030449 commonName VAR_030449 VAR_030449 disease phenotype-associated VAR_030449 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030450 commonName VAR_030450 VAR_030450 disease phenotype-associated VAR_030450 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030451 commonName VAR_030451 VAR_030451 disease phenotype-associated VAR_030451 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030452 commonName VAR_030452 VAR_030452 disease phenotype-associated VAR_030452 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030453 commonName VAR_030453 VAR_030453 disease phenotype-associated VAR_030453 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030454 commonName VAR_030454 VAR_030454 disease phenotype-associated VAR_030454 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030455 commonName VAR_030455 VAR_030455 disease phenotype-associated VAR_030455 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030456 commonName VAR_030456 VAR_030456 disease phenotype-associated VAR_030456 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030457 commonName VAR_030457 VAR_030457 disease phenotype-associated VAR_030457 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030459 commonName VAR_030459 VAR_030459 disease phenotype-associated VAR_030459 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030460 commonName VAR_030460 VAR_030460 disease phenotype-associated VAR_030460 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030461 commonName VAR_030461 VAR_030461 disease phenotype-associated VAR_030461 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030462 commonName VAR_030462 VAR_030462 disease phenotype-associated VAR_030462 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030463 commonName VAR_030463 VAR_030463 disease phenotype-associated VAR_030463 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030464 commonName VAR_030464 VAR_030464 disease phenotype-associated VAR_030464 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030465 commonName VAR_030465 VAR_030465 disease phenotype-associated VAR_030465 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030466 commonName VAR_030466 VAR_030466 disease phenotype-associated VAR_030466 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030467 commonName VAR_030467 VAR_030467 disease not phenotype-associated VAR_030468 commonName VAR_030468 VAR_030468 disease phenotype-associated VAR_030468 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030469 commonName VAR_030469 VAR_030469 disease not phenotype-associated VAR_030470 commonName VAR_030470 VAR_030470 disease not phenotype-associated VAR_030471 commonName VAR_030471 VAR_030471 disease not phenotype-associated VAR_030472 commonName VAR_030472 VAR_030472 disease not phenotype-associated VAR_030473 commonName VAR_030473 VAR_030473 disease phenotype-associated VAR_030473 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030474 commonName VAR_030474 VAR_030474 disease phenotype-associated VAR_030474 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030475 commonName VAR_030475 VAR_030475 disease phenotype-associated VAR_030475 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030476 commonName VAR_030476 VAR_030476 disease phenotype-associated VAR_030476 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030477 commonName VAR_030477 VAR_030478 commonName VAR_030478 VAR_030478 disease phenotype-associated VAR_030478 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030479 commonName VAR_030479 VAR_030479 disease phenotype-associated VAR_030479 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030480 commonName VAR_030480 VAR_030480 disease phenotype-associated VAR_030480 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030481 commonName VAR_030481 VAR_030481 disease phenotype-associated VAR_030481 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030482 commonName VAR_030482 VAR_030482 disease phenotype-associated VAR_030482 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030483 commonName VAR_030483 VAR_030483 disease phenotype-associated VAR_030483 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030484 commonName VAR_030484 VAR_030484 disease phenotype-associated VAR_030484 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030485 commonName VAR_030485 VAR_030485 disease phenotype-associated VAR_030485 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030486 commonName VAR_030486 VAR_030486 disease phenotype-associated VAR_030486 phenoCommon Glanzmann thrombasthenia (GT) [MIM:273800] VAR_030487 commonName VAR_030487 VAR_030487 disease not phenotype-associated VAR_030489 commonName VAR_030489 VAR_030489 disease not phenotype-associated VAR_030490 commonName VAR_030490 VAR_030490 disease not phenotype-associated VAR_030491 commonName VAR_030491 VAR_030491 disease not phenotype-associated VAR_030492 commonName VAR_030492 VAR_030492 disease not phenotype-associated VAR_030493 commonName VAR_030493 VAR_030493 disease not phenotype-associated VAR_030494 commonName VAR_030494 VAR_030494 disease not phenotype-associated VAR_030495 commonName VAR_030495 VAR_030495 disease not phenotype-associated VAR_030496 commonName VAR_030496 VAR_030497 commonName VAR_030497 VAR_030498 commonName VAR_030498 VAR_030499 commonName VAR_030499 VAR_030500 commonName VAR_030500 VAR_030501 commonName VAR_030501 VAR_030501 disease not phenotype-associated VAR_030502 commonName VAR_030502 VAR_030502 disease not phenotype-associated VAR_030503 commonName VAR_030503 VAR_030503 disease not phenotype-associated VAR_030504 commonName VAR_030504 VAR_030505 commonName VAR_030505 VAR_030505 disease not phenotype-associated VAR_030506 commonName VAR_030506 VAR_030507 commonName VAR_030507 VAR_030507 disease not phenotype-associated VAR_030508 commonName VAR_030508 VAR_030508 disease not phenotype-associated VAR_030509 commonName VAR_030509 VAR_030510 commonName VAR_030510 VAR_030511 commonName VAR_030511 VAR_030511 disease not phenotype-associated VAR_030512 commonName VAR_030512 VAR_030512 disease not phenotype-associated VAR_030513 commonName VAR_030513 VAR_030513 disease not phenotype-associated VAR_030514 commonName VAR_030514 VAR_030514 disease not phenotype-associated VAR_030515 commonName VAR_030515 VAR_030515 disease not phenotype-associated VAR_030516 commonName VAR_030516 VAR_030516 disease not phenotype-associated VAR_030517 commonName VAR_030517 VAR_030517 disease not phenotype-associated VAR_030518 commonName VAR_030518 VAR_030518 disease not phenotype-associated VAR_030519 commonName VAR_030519 VAR_030519 disease not phenotype-associated VAR_030520 commonName VAR_030520 VAR_030520 disease not phenotype-associated VAR_030521 commonName VAR_030521 VAR_030521 disease not phenotype-associated VAR_030522 commonName VAR_030522 VAR_030522 disease not phenotype-associated VAR_030523 commonName VAR_030523 VAR_030523 disease not phenotype-associated VAR_030524 commonName VAR_030524 VAR_030524 disease not phenotype-associated VAR_030525 commonName VAR_030525 VAR_030525 disease not phenotype-associated VAR_030526 commonName VAR_030526 VAR_030526 disease not phenotype-associated VAR_030527 commonName VAR_030527 VAR_030527 disease not phenotype-associated VAR_030528 commonName VAR_030528 VAR_030528 disease not phenotype-associated VAR_030529 commonName VAR_030529 VAR_030529 disease not phenotype-associated VAR_030530 commonName VAR_030530 VAR_030530 disease not phenotype-associated VAR_030531 commonName VAR_030531 VAR_030531 disease not phenotype-associated VAR_030532 commonName VAR_030532 VAR_030532 disease not phenotype-associated VAR_030533 commonName VAR_030533 VAR_030533 disease not phenotype-associated VAR_030534 commonName VAR_030534 VAR_030534 disease not phenotype-associated VAR_030535 commonName VAR_030535 VAR_030535 disease not phenotype-associated VAR_030536 commonName VAR_030536 VAR_030536 disease not phenotype-associated VAR_030537 commonName VAR_030537 VAR_030537 disease not phenotype-associated VAR_030538 commonName VAR_030538 VAR_030538 disease not phenotype-associated VAR_030539 commonName VAR_030539 VAR_030539 disease not phenotype-associated VAR_030540 commonName VAR_030540 VAR_030540 disease not phenotype-associated VAR_030541 commonName VAR_030541 VAR_030541 disease not phenotype-associated VAR_030542 commonName VAR_030542 VAR_030542 disease not phenotype-associated VAR_030543 commonName VAR_030543 VAR_030543 disease not phenotype-associated VAR_030544 commonName VAR_030544 VAR_030544 disease not phenotype-associated VAR_030545 commonName VAR_030545 VAR_030545 disease not phenotype-associated VAR_030546 commonName VAR_030546 VAR_030546 disease not phenotype-associated VAR_030547 commonName VAR_030547 VAR_030547 disease not phenotype-associated VAR_030548 commonName VAR_030548 VAR_030548 disease not phenotype-associated VAR_030549 commonName VAR_030549 VAR_030549 disease not phenotype-associated VAR_030550 commonName VAR_030550 VAR_030550 disease not phenotype-associated VAR_030551 commonName VAR_030551 VAR_030551 disease not phenotype-associated VAR_030553 commonName VAR_030553 VAR_030553 disease phenotype-associated VAR_030553 phenoCommon Erythropoietic protoporphyria (EPP) [MIM:177000] VAR_030554 commonName VAR_030554 VAR_030554 disease phenotype-associated VAR_030554 phenoCommon Erythropoietic protoporphyria (EPP) [MIM:177000] VAR_030555 commonName VAR_030555 VAR_030555 disease phenotype-associated VAR_030555 phenoCommon Erythropoietic protoporphyria (EPP) [MIM:177000] VAR_030556 commonName VAR_030556 VAR_030556 disease phenotype-associated VAR_030556 phenoCommon Erythropoietic protoporphyria (EPP) [MIM:177000] VAR_030557 commonName VAR_030557 VAR_030557 disease phenotype-associated VAR_030557 phenoCommon Erythropoietic protoporphyria (EPP) [MIM:177000] VAR_030558 commonName VAR_030558 VAR_030558 disease phenotype-associated VAR_030558 phenoCommon Erythropoietic protoporphyria (EPP) [MIM:177000] VAR_030559 commonName VAR_030559 VAR_030559 disease phenotype-associated VAR_030559 phenoCommon Erythropoietic protoporphyria (EPP) [MIM:177000] VAR_030560 commonName VAR_030560 VAR_030560 disease phenotype-associated VAR_030560 phenoCommon Erythropoietic protoporphyria (EPP) [MIM:177000] VAR_030561 commonName VAR_030561 VAR_030561 disease phenotype-associated VAR_030561 phenoCommon Erythropoietic protoporphyria (EPP) [MIM:177000] VAR_030562 commonName VAR_030562 VAR_030562 disease phenotype-associated VAR_030562 phenoCommon Erythropoietic protoporphyria (EPP) [MIM:177000] VAR_030572 commonName VAR_030572 VAR_030572 disease not phenotype-associated VAR_030573 commonName VAR_030573 VAR_030573 disease not phenotype-associated VAR_030574 commonName VAR_030574 VAR_030574 disease not phenotype-associated VAR_030575 commonName VAR_030575 VAR_030575 disease not phenotype-associated VAR_030576 commonName VAR_030576 VAR_030576 disease not phenotype-associated VAR_030578 commonName VAR_030578 VAR_030578 disease not phenotype-associated VAR_030579 commonName VAR_030579 VAR_030579 disease not phenotype-associated VAR_030580 commonName VAR_030580 VAR_030580 disease not phenotype-associated VAR_030581 commonName VAR_030581 VAR_030581 disease not phenotype-associated VAR_030582 commonName VAR_030582 VAR_030582 disease not phenotype-associated VAR_030583 commonName VAR_030583 VAR_030583 disease not phenotype-associated VAR_030584 commonName VAR_030584 VAR_030584 disease not phenotype-associated VAR_030585 commonName VAR_030585 VAR_030585 disease not phenotype-associated VAR_030590 commonName VAR_030590 VAR_030590 disease not phenotype-associated VAR_030591 commonName VAR_030591 VAR_030591 disease not phenotype-associated VAR_030592 commonName VAR_030592 VAR_030592 disease not phenotype-associated VAR_030593 commonName VAR_030593 VAR_030593 disease not phenotype-associated VAR_030594 commonName VAR_030594 VAR_030594 disease not phenotype-associated VAR_030595 commonName VAR_030595 VAR_030595 disease phenotype-associated VAR_030595 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700] VAR_030596 commonName VAR_030596 VAR_030596 disease phenotype-associated VAR_030596 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700] VAR_030597 commonName VAR_030597 VAR_030597 disease phenotype-associated VAR_030597 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700] VAR_030598 commonName VAR_030598 VAR_030598 disease phenotype-associated VAR_030598 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700] VAR_030599 commonName VAR_030599 VAR_030599 disease phenotype-associated VAR_030599 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700] VAR_030600 commonName VAR_030600 VAR_030600 disease not phenotype-associated VAR_030601 commonName VAR_030601 VAR_030601 disease not phenotype-associated VAR_030602 commonName VAR_030602 VAR_030602 disease not phenotype-associated VAR_030603 commonName VAR_030603 VAR_030603 disease not phenotype-associated VAR_030604 commonName VAR_030604 VAR_030604 disease not phenotype-associated VAR_030605 commonName VAR_030605 VAR_030605 disease not phenotype-associated VAR_030606 commonName VAR_030606 VAR_030606 disease not phenotype-associated VAR_030607 commonName VAR_030607 VAR_030607 disease not phenotype-associated VAR_030608 commonName VAR_030608 VAR_030608 disease not phenotype-associated VAR_030609 commonName VAR_030609 VAR_030609 disease not phenotype-associated VAR_030610 commonName VAR_030610 VAR_030610 disease not phenotype-associated VAR_030611 commonName VAR_030611 VAR_030611 disease not phenotype-associated VAR_030612 commonName VAR_030612 VAR_030612 disease not phenotype-associated VAR_030613 commonName VAR_030613 VAR_030613 disease not phenotype-associated VAR_030614 commonName VAR_030614 VAR_030614 disease not phenotype-associated VAR_030615 commonName VAR_030615 VAR_030615 disease not phenotype-associated VAR_030616 commonName VAR_030616 VAR_030616 disease not phenotype-associated VAR_030617 commonName VAR_030617 VAR_030617 disease not phenotype-associated VAR_030618 commonName VAR_030618 VAR_030618 disease not phenotype-associated VAR_030619 commonName VAR_030619 VAR_030619 disease not phenotype-associated VAR_030620 commonName VAR_030620 VAR_030620 disease not phenotype-associated VAR_030621 commonName VAR_030621 VAR_030621 disease not phenotype-associated VAR_030622 commonName VAR_030622 VAR_030622 disease not phenotype-associated VAR_030623 commonName VAR_030623 VAR_030623 disease not phenotype-associated VAR_030624 commonName VAR_030624 VAR_030624 disease not phenotype-associated VAR_030625 commonName VAR_030625 VAR_030625 disease not phenotype-associated VAR_030626 commonName VAR_030626 VAR_030626 disease not phenotype-associated VAR_030627 commonName VAR_030627 VAR_030627 disease not phenotype-associated VAR_030628 commonName VAR_030628 VAR_030628 disease not phenotype-associated VAR_030629 commonName VAR_030629 VAR_030629 disease not phenotype-associated VAR_030631 commonName VAR_030631 VAR_030631 disease not phenotype-associated VAR_030632 commonName VAR_030632 VAR_030632 disease not phenotype-associated VAR_030633 commonName VAR_030633 VAR_030633 disease not phenotype-associated VAR_030634 commonName VAR_030634 VAR_030634 disease not phenotype-associated VAR_030635 commonName VAR_030635 VAR_030635 disease not phenotype-associated VAR_030636 commonName VAR_030636 VAR_030636 disease not phenotype-associated VAR_030637 commonName VAR_030637 VAR_030637 disease not phenotype-associated VAR_030638 commonName VAR_030638 VAR_030638 disease not phenotype-associated VAR_030639 commonName VAR_030639 VAR_030639 disease not phenotype-associated VAR_030640 commonName VAR_030640 VAR_030640 disease not phenotype-associated VAR_030641 commonName VAR_030641 VAR_030641 disease not phenotype-associated VAR_030642 commonName VAR_030642 VAR_030642 disease not phenotype-associated VAR_030643 commonName VAR_030643 VAR_030643 disease not phenotype-associated VAR_030644 commonName VAR_030644 VAR_030644 disease not phenotype-associated VAR_030645 commonName VAR_030645 VAR_030645 disease not phenotype-associated VAR_030646 commonName VAR_030646 VAR_030646 disease not phenotype-associated VAR_030647 commonName VAR_030647 VAR_030647 disease phenotype-associated VAR_030647 phenoCommon Leukodystrophy hypomyelinating type 5 (HLD5) [MIM:610532] VAR_030648 commonName VAR_030648 VAR_030648 disease not phenotype-associated VAR_030649 commonName VAR_030649 VAR_030649 disease not phenotype-associated VAR_030650 commonName VAR_030650 VAR_030650 disease not phenotype-associated VAR_030651 commonName VAR_030651 VAR_030651 disease not phenotype-associated VAR_030652 commonName VAR_030652 VAR_030652 disease not phenotype-associated VAR_030653 commonName VAR_030653 VAR_030653 disease not phenotype-associated VAR_030654 commonName VAR_030654 VAR_030654 disease not phenotype-associated VAR_030655 commonName VAR_030655 VAR_030655 disease not phenotype-associated VAR_030656 commonName VAR_030656 VAR_030656 disease not phenotype-associated VAR_030657 commonName VAR_030657 VAR_030657 disease not phenotype-associated VAR_030658 commonName VAR_030658 VAR_030658 disease phenotype-associated VAR_030658 phenoCommon Hereditary sensory neuropathy autosomal recessive with spastic paraplegia (HSNSP) [MIM:256840] VAR_030659 commonName VAR_030659 VAR_030659 disease phenotype-associated VAR_030659 phenoCommon Hereditary sensory and autonomic neuropathy type 5 (HSAN5) [MIM:608654] VAR_030660 commonName VAR_030660 VAR_030660 disease phenotype-associated VAR_030660 phenoCommon Hypercatabolic hypoproteinemia (HYCATHYP) [MIM:241600] VAR_030661 commonName VAR_030661 VAR_030661 disease not phenotype-associated VAR_030662 commonName VAR_030662 VAR_030662 disease phenotype-associated VAR_030662 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] VAR_030663 commonName VAR_030663 VAR_030663 disease phenotype-associated VAR_030663 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] VAR_030664 commonName VAR_030664 VAR_030664 disease phenotype-associated VAR_030664 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] VAR_030665 commonName VAR_030665 VAR_030665 disease phenotype-associated VAR_030665 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] VAR_030666 commonName VAR_030666 VAR_030666 disease not phenotype-associated VAR_030667 commonName VAR_030667 VAR_030667 disease not phenotype-associated VAR_030668 commonName VAR_030668 VAR_030668 disease not phenotype-associated VAR_030669 commonName VAR_030669 VAR_030669 disease not phenotype-associated VAR_030671 commonName VAR_030671 VAR_030671 disease not phenotype-associated VAR_030672 commonName VAR_030672 VAR_030672 disease not phenotype-associated VAR_030673 commonName VAR_030673 VAR_030673 disease phenotype-associated VAR_030673 phenoCommon Fuhrmann syndrome (FUHRS) [MIM:228930] VAR_030674 commonName VAR_030674 VAR_030674 disease phenotype-associated VAR_030674 phenoCommon Limb pelvis hypoplasia aplasia syndrome (LPHAS) [MIM:276820] VAR_030675 commonName VAR_030675 VAR_030675 disease phenotype-associated VAR_030675 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_030676 commonName VAR_030676 VAR_030676 disease phenotype-associated VAR_030676 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_030677 commonName VAR_030677 VAR_030677 disease phenotype-associated VAR_030677 phenoCommon Pulmonary alveolar microlithiasis (PALM) [MIM:265100] VAR_030678 commonName VAR_030678 VAR_030678 disease not phenotype-associated VAR_030679 commonName VAR_030679 VAR_030679 disease not phenotype-associated VAR_030680 commonName VAR_030680 VAR_030680 disease not phenotype-associated VAR_030681 commonName VAR_030681 VAR_030681 disease not phenotype-associated VAR_030682 commonName VAR_030682 VAR_030682 disease not phenotype-associated VAR_030683 commonName VAR_030683 VAR_030683 disease not phenotype-associated VAR_030684 commonName VAR_030684 VAR_030684 disease not phenotype-associated VAR_030685 commonName VAR_030685 VAR_030685 disease not phenotype-associated VAR_030686 commonName VAR_030686 VAR_030686 disease not phenotype-associated VAR_030687 commonName VAR_030687 VAR_030687 disease not phenotype-associated VAR_030688 commonName VAR_030688 VAR_030688 disease not phenotype-associated VAR_030689 commonName VAR_030689 VAR_030689 disease not phenotype-associated VAR_030690 commonName VAR_030690 VAR_030690 disease not phenotype-associated VAR_030691 commonName VAR_030691 VAR_030691 disease not phenotype-associated VAR_030692 commonName VAR_030692 VAR_030692 disease not phenotype-associated VAR_030693 commonName VAR_030693 VAR_030693 disease not phenotype-associated VAR_030694 commonName VAR_030694 VAR_030694 disease not phenotype-associated VAR_030695 commonName VAR_030695 VAR_030695 disease not phenotype-associated VAR_030696 commonName VAR_030696 VAR_030696 disease not phenotype-associated VAR_030697 commonName VAR_030697 VAR_030697 disease not phenotype-associated VAR_030698 commonName VAR_030698 VAR_030698 disease not phenotype-associated VAR_030699 commonName VAR_030699 VAR_030699 disease not phenotype-associated VAR_030700 commonName VAR_030700 VAR_030700 disease not phenotype-associated VAR_030701 commonName VAR_030701 VAR_030701 disease not phenotype-associated VAR_030702 commonName VAR_030702 VAR_030702 disease not phenotype-associated VAR_030703 commonName VAR_030703 VAR_030703 disease not phenotype-associated VAR_030704 commonName VAR_030704 VAR_030704 disease not phenotype-associated VAR_030705 commonName VAR_030705 VAR_030705 disease phenotype-associated VAR_030705 phenoCommon Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644] VAR_030706 commonName VAR_030706 VAR_030706 disease phenotype-associated VAR_030706 phenoCommon Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644] VAR_030707 commonName VAR_030707 VAR_030707 disease phenotype-associated VAR_030707 phenoCommon Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644] VAR_030708 commonName VAR_030708 VAR_030708 disease phenotype-associated VAR_030708 phenoCommon Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644] VAR_030709 commonName VAR_030709 VAR_030709 disease phenotype-associated VAR_030709 phenoCommon Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644] VAR_030710 commonName VAR_030710 VAR_030710 disease phenotype-associated VAR_030710 phenoCommon Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644] VAR_030711 commonName VAR_030711 VAR_030711 disease phenotype-associated VAR_030711 phenoCommon Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644] VAR_030712 commonName VAR_030712 VAR_030712 disease phenotype-associated VAR_030712 phenoCommon Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644] VAR_030713 commonName VAR_030713 VAR_030713 disease not phenotype-associated VAR_030714 commonName VAR_030714 VAR_030714 disease not phenotype-associated VAR_030715 commonName VAR_030715 VAR_030715 disease not phenotype-associated VAR_030716 commonName VAR_030716 VAR_030716 disease not phenotype-associated VAR_030717 commonName VAR_030717 VAR_030717 disease not phenotype-associated VAR_030718 commonName VAR_030718 VAR_030718 disease not phenotype-associated VAR_030719 commonName VAR_030719 VAR_030719 disease not phenotype-associated VAR_030720 commonName VAR_030720 VAR_030720 disease not phenotype-associated VAR_030721 commonName VAR_030721 VAR_030721 disease not phenotype-associated VAR_030725 commonName VAR_030725 VAR_030725 disease not phenotype-associated VAR_030727 commonName VAR_030727 VAR_030727 disease not phenotype-associated VAR_030728 commonName VAR_030728 VAR_030728 disease not phenotype-associated VAR_030729 commonName VAR_030729 VAR_030729 disease not phenotype-associated VAR_030730 commonName VAR_030730 VAR_030730 disease not phenotype-associated VAR_030734 commonName VAR_030734 VAR_030734 disease not phenotype-associated VAR_030735 commonName VAR_030735 VAR_030735 disease not phenotype-associated VAR_030736 commonName VAR_030736 VAR_030736 disease not phenotype-associated VAR_030737 commonName VAR_030737 VAR_030737 disease not phenotype-associated VAR_030738 commonName VAR_030738 VAR_030738 disease not phenotype-associated VAR_030739 commonName VAR_030739 VAR_030739 disease not phenotype-associated VAR_030740 commonName VAR_030740 VAR_030740 disease not phenotype-associated VAR_030741 commonName VAR_030741 VAR_030741 disease not phenotype-associated VAR_030743 commonName VAR_030743 VAR_030743 disease not phenotype-associated VAR_030744 commonName VAR_030744 VAR_030744 disease not phenotype-associated VAR_030745 commonName VAR_030745 VAR_030745 disease not phenotype-associated VAR_030746 commonName VAR_030746 VAR_030746 disease not phenotype-associated VAR_030747 commonName VAR_030747 VAR_030747 disease not phenotype-associated VAR_030750 commonName VAR_030750 VAR_030750 disease not phenotype-associated VAR_030751 comment One individual with tumoral calcinosis VAR_030751 commonName VAR_030751 VAR_030752 commonName VAR_030752 VAR_030752 disease not phenotype-associated VAR_030753 commonName VAR_030753 VAR_030753 disease phenotype-associated VAR_030753 phenoCommon Multiple pterygium syndrome Escobar variant (MUPSE) [MIM:265000] VAR_030753 phenoCommon Multiple pterygium syndrome lethal type (MUPSL) [MIM:253290] VAR_030754 commonName VAR_030754 VAR_030754 disease not phenotype-associated VAR_030755 commonName VAR_030755 VAR_030755 disease phenotype-associated VAR_030755 phenoCommon Multiple pterygium syndrome Escobar variant (MUPSE) [MIM:265000] VAR_030755 phenoCommon Multiple pterygium syndrome lethal type (MUPSL) [MIM:253290] VAR_030756 commonName VAR_030756 VAR_030756 disease phenotype-associated VAR_030756 phenoCommon Congenital stationary night blindness type 1B (CSNB1B) [MIM:257270] VAR_030757 commonName VAR_030757 VAR_030757 disease phenotype-associated VAR_030757 phenoCommon Congenital stationary night blindness type 1B (CSNB1B) [MIM:257270] VAR_030758 commonName VAR_030758 VAR_030758 disease not phenotype-associated VAR_030759 commonName VAR_030759 VAR_030759 disease not phenotype-associated VAR_030761 commonName VAR_030761 VAR_030761 disease not phenotype-associated VAR_030762 commonName VAR_030762 VAR_030762 disease not phenotype-associated VAR_030763 commonName VAR_030763 VAR_030763 disease not phenotype-associated VAR_030765 commonName VAR_030765 VAR_030765 disease not phenotype-associated VAR_030766 commonName VAR_030766 VAR_030766 disease not phenotype-associated VAR_030767 commonName VAR_030767 VAR_030767 disease not phenotype-associated VAR_030768 commonName VAR_030768 VAR_030768 disease not phenotype-associated VAR_030769 commonName VAR_030769 VAR_030769 disease not phenotype-associated VAR_030770 commonName VAR_030770 VAR_030770 disease not phenotype-associated VAR_030771 commonName VAR_030771 VAR_030771 disease not phenotype-associated VAR_030772 commonName VAR_030772 VAR_030772 disease not phenotype-associated VAR_030773 commonName VAR_030773 VAR_030773 disease not phenotype-associated VAR_030774 commonName VAR_030774 VAR_030774 disease not phenotype-associated VAR_030775 commonName VAR_030775 VAR_030775 disease not phenotype-associated VAR_030776 commonName VAR_030776 VAR_030776 disease not phenotype-associated VAR_030777 commonName VAR_030777 VAR_030777 disease not phenotype-associated VAR_030781 commonName VAR_030781 VAR_030781 disease not phenotype-associated VAR_030782 commonName VAR_030782 VAR_030782 disease not phenotype-associated VAR_030783 commonName VAR_030783 VAR_030783 disease not phenotype-associated VAR_030784 commonName VAR_030784 VAR_030784 disease not phenotype-associated VAR_030785 commonName VAR_030785 VAR_030785 disease not phenotype-associated VAR_030786 commonName VAR_030786 VAR_030786 disease not phenotype-associated VAR_030787 commonName VAR_030787 VAR_030787 disease not phenotype-associated VAR_030788 commonName VAR_030788 VAR_030788 disease not phenotype-associated VAR_030789 commonName VAR_030789 VAR_030789 disease phenotype-associated VAR_030789 phenoCommon Oral-facial-digital syndrome type 1 (OFD1) [MIM:311200] VAR_030794 commonName VAR_030794 VAR_030794 disease not phenotype-associated VAR_030795 commonName VAR_030795 VAR_030795 disease not phenotype-associated VAR_030796 commonName VAR_030796 VAR_030796 disease not phenotype-associated VAR_030797 commonName VAR_030797 VAR_030797 disease not phenotype-associated VAR_030798 commonName VAR_030798 VAR_030798 disease not phenotype-associated VAR_030799 commonName VAR_030799 VAR_030799 disease not phenotype-associated VAR_030800 commonName VAR_030800 VAR_030800 disease not phenotype-associated VAR_030801 commonName VAR_030801 VAR_030801 disease not phenotype-associated VAR_030802 commonName VAR_030802 VAR_030802 disease not phenotype-associated VAR_030803 commonName VAR_030803 VAR_030803 disease not phenotype-associated VAR_030804 commonName VAR_030804 VAR_030804 disease not phenotype-associated VAR_030805 commonName VAR_030805 VAR_030805 disease not phenotype-associated VAR_030806 commonName VAR_030806 VAR_030806 disease not phenotype-associated VAR_030807 commonName VAR_030807 VAR_030807 disease not phenotype-associated VAR_030808 commonName VAR_030808 VAR_030808 disease phenotype-associated VAR_030808 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] VAR_030809 commonName VAR_030809 VAR_030809 disease phenotype-associated VAR_030809 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] VAR_030810 commonName VAR_030810 VAR_030810 disease phenotype-associated VAR_030810 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] VAR_030811 commonName VAR_030811 VAR_030811 disease phenotype-associated VAR_030811 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] VAR_030812 commonName VAR_030812 VAR_030812 disease phenotype-associated VAR_030812 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] VAR_030813 commonName VAR_030813 VAR_030813 disease phenotype-associated VAR_030813 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] VAR_030814 commonName VAR_030814 VAR_030814 disease phenotype-associated VAR_030814 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] VAR_030815 commonName VAR_030815 VAR_030815 disease phenotype-associated VAR_030815 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] VAR_030816 commonName VAR_030816 VAR_030816 disease phenotype-associated VAR_030816 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] VAR_030817 commonName VAR_030817 VAR_030817 disease phenotype-associated VAR_030817 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] VAR_030818 commonName VAR_030818 VAR_030818 disease phenotype-associated VAR_030818 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] VAR_030819 commonName VAR_030819 VAR_030819 disease phenotype-associated VAR_030819 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] VAR_030820 commonName VAR_030820 VAR_030820 disease phenotype-associated VAR_030820 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] VAR_030821 commonName VAR_030821 VAR_030821 disease phenotype-associated VAR_030821 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] VAR_030822 commonName VAR_030822 VAR_030822 disease phenotype-associated VAR_030822 phenoCommon Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071] VAR_030823 commonName VAR_030823 VAR_030823 disease phenotype-associated VAR_030823 phenoCommon Microphthalmia syndromic type 7 (MCOPS7) [MIM:309801] VAR_030824 commonName VAR_030824 VAR_030824 disease not phenotype-associated VAR_030825 commonName VAR_030825 VAR_030825 disease not phenotype-associated VAR_030826 commonName VAR_030826 VAR_030826 disease not phenotype-associated VAR_030827 commonName VAR_030827 VAR_030827 disease not phenotype-associated VAR_030828 commonName VAR_030828 VAR_030828 disease not phenotype-associated VAR_030829 commonName VAR_030829 VAR_030829 disease not phenotype-associated VAR_030830 commonName VAR_030830 VAR_030830 disease not phenotype-associated VAR_030831 commonName VAR_030831 VAR_030831 disease not phenotype-associated VAR_030832 commonName VAR_030832 VAR_030832 disease not phenotype-associated VAR_030833 commonName VAR_030833 VAR_030833 disease not phenotype-associated VAR_030834 commonName VAR_030834 VAR_030834 disease not phenotype-associated VAR_030835 commonName VAR_030835 VAR_030835 disease not phenotype-associated VAR_030836 commonName VAR_030836 VAR_030836 disease not phenotype-associated VAR_030837 commonName VAR_030837 VAR_030837 disease not phenotype-associated VAR_030838 commonName VAR_030838 VAR_030838 disease not phenotype-associated VAR_030839 commonName VAR_030839 VAR_030839 disease not phenotype-associated VAR_030840 commonName VAR_030840 VAR_030840 disease not phenotype-associated VAR_030841 commonName VAR_030841 VAR_030841 disease not phenotype-associated VAR_030842 commonName VAR_030842 VAR_030842 disease not phenotype-associated VAR_030843 commonName VAR_030843 VAR_030843 disease not phenotype-associated VAR_030844 commonName VAR_030844 VAR_030844 disease not phenotype-associated VAR_030845 commonName VAR_030845 VAR_030845 disease not phenotype-associated VAR_030846 commonName VAR_030846 VAR_030846 disease not phenotype-associated VAR_030847 commonName VAR_030847 VAR_030847 disease not phenotype-associated VAR_030848 commonName VAR_030848 VAR_030848 disease not phenotype-associated VAR_030849 commonName VAR_030849 VAR_030849 disease not phenotype-associated VAR_030850 commonName VAR_030850 VAR_030850 disease not phenotype-associated VAR_030851 commonName VAR_030851 VAR_030851 disease not phenotype-associated VAR_030852 commonName VAR_030852 VAR_030852 disease not phenotype-associated VAR_030853 commonName VAR_030853 VAR_030853 disease not phenotype-associated VAR_030854 commonName VAR_030854 VAR_030854 disease not phenotype-associated VAR_030855 commonName VAR_030855 VAR_030855 disease not phenotype-associated VAR_030856 commonName VAR_030856 VAR_030856 disease not phenotype-associated VAR_030857 commonName VAR_030857 VAR_030857 disease not phenotype-associated VAR_030858 commonName VAR_030858 VAR_030858 disease not phenotype-associated VAR_030859 commonName VAR_030859 VAR_030859 disease not phenotype-associated VAR_030860 commonName VAR_030860 VAR_030860 disease not phenotype-associated VAR_030861 commonName VAR_030861 VAR_030861 disease not phenotype-associated VAR_030862 commonName VAR_030862 VAR_030862 disease not phenotype-associated VAR_030863 commonName VAR_030863 VAR_030863 disease not phenotype-associated VAR_030864 commonName VAR_030864 VAR_030864 disease not phenotype-associated VAR_030865 commonName VAR_030865 VAR_030865 disease not phenotype-associated VAR_030866 commonName VAR_030866 VAR_030866 disease not phenotype-associated VAR_030867 commonName VAR_030867 VAR_030867 disease not phenotype-associated VAR_030868 commonName VAR_030868 VAR_030868 disease not phenotype-associated VAR_030869 commonName VAR_030869 VAR_030869 disease not phenotype-associated VAR_030870 commonName VAR_030870 VAR_030870 disease not phenotype-associated VAR_030872 commonName VAR_030872 VAR_030872 disease not phenotype-associated VAR_030873 commonName VAR_030873 VAR_030873 disease not phenotype-associated VAR_030874 commonName VAR_030874 VAR_030874 disease not phenotype-associated VAR_030875 commonName VAR_030875 VAR_030875 disease not phenotype-associated VAR_030876 commonName VAR_030876 VAR_030876 disease not phenotype-associated VAR_030877 commonName VAR_030877 VAR_030877 disease not phenotype-associated VAR_030878 commonName VAR_030878 VAR_030878 disease not phenotype-associated VAR_030880 commonName VAR_030880 VAR_030880 disease not phenotype-associated VAR_030881 commonName VAR_030881 VAR_030881 disease not phenotype-associated VAR_030882 commonName VAR_030882 VAR_030882 disease not phenotype-associated VAR_030883 commonName VAR_030883 VAR_030883 disease not phenotype-associated VAR_030884 commonName VAR_030884 VAR_030884 disease not phenotype-associated VAR_030885 commonName VAR_030885 VAR_030885 disease not phenotype-associated VAR_030886 commonName VAR_030886 VAR_030886 disease not phenotype-associated VAR_030888 commonName VAR_030888 VAR_030888 disease not phenotype-associated VAR_030889 commonName VAR_030889 VAR_030889 disease not phenotype-associated VAR_030890 commonName VAR_030890 VAR_030890 disease not phenotype-associated VAR_030891 commonName VAR_030891 VAR_030891 disease not phenotype-associated VAR_030892 commonName VAR_030892 VAR_030892 disease not phenotype-associated VAR_030893 commonName VAR_030893 VAR_030893 disease not phenotype-associated VAR_030894 commonName VAR_030894 VAR_030894 disease not phenotype-associated VAR_030895 commonName VAR_030895 VAR_030895 disease not phenotype-associated VAR_030896 commonName VAR_030896 VAR_030896 disease not phenotype-associated VAR_030897 commonName VAR_030897 VAR_030897 disease not phenotype-associated VAR_030898 commonName VAR_030898 VAR_030898 disease not phenotype-associated VAR_030899 commonName VAR_030899 VAR_030899 disease not phenotype-associated VAR_030900 commonName VAR_030900 VAR_030900 disease not phenotype-associated VAR_030901 commonName VAR_030901 VAR_030901 disease not phenotype-associated VAR_030902 commonName VAR_030902 VAR_030902 disease not phenotype-associated VAR_030903 commonName VAR_030903 VAR_030903 disease not phenotype-associated VAR_030904 commonName VAR_030904 VAR_030904 disease not phenotype-associated VAR_030905 commonName VAR_030905 VAR_030905 disease not phenotype-associated VAR_030906 commonName VAR_030906 VAR_030906 disease not phenotype-associated VAR_030907 commonName VAR_030907 VAR_030907 disease not phenotype-associated VAR_030908 commonName VAR_030908 VAR_030908 disease not phenotype-associated VAR_030909 commonName VAR_030909 VAR_030909 disease not phenotype-associated VAR_030910 commonName VAR_030910 VAR_030910 disease not phenotype-associated VAR_030911 commonName VAR_030911 VAR_030911 disease not phenotype-associated VAR_030912 commonName VAR_030912 VAR_030912 disease not phenotype-associated VAR_030913 commonName VAR_030913 VAR_030913 disease not phenotype-associated VAR_030914 commonName VAR_030914 VAR_030914 disease not phenotype-associated VAR_030915 commonName VAR_030915 VAR_030915 disease not phenotype-associated VAR_030916 commonName VAR_030916 VAR_030916 disease not phenotype-associated VAR_030917 commonName VAR_030917 VAR_030917 disease not phenotype-associated VAR_030918 commonName VAR_030918 VAR_030918 disease not phenotype-associated VAR_030919 commonName VAR_030919 VAR_030919 disease not phenotype-associated VAR_030920 commonName VAR_030920 VAR_030920 disease not phenotype-associated VAR_030923 commonName VAR_030923 VAR_030923 disease not phenotype-associated VAR_030924 commonName VAR_030924 VAR_030924 disease not phenotype-associated VAR_030925 commonName VAR_030925 VAR_030925 disease not phenotype-associated VAR_030926 commonName VAR_030926 VAR_030926 disease not phenotype-associated VAR_030927 commonName VAR_030927 VAR_030927 disease not phenotype-associated VAR_030928 commonName VAR_030928 VAR_030928 disease not phenotype-associated VAR_030929 commonName VAR_030929 VAR_030929 disease not phenotype-associated VAR_030930 commonName VAR_030930 VAR_030930 disease not phenotype-associated VAR_030931 commonName VAR_030931 VAR_030931 disease not phenotype-associated VAR_030932 commonName VAR_030932 VAR_030932 disease not phenotype-associated VAR_030933 commonName VAR_030933 VAR_030933 disease not phenotype-associated VAR_030934 commonName VAR_030934 VAR_030934 disease not phenotype-associated VAR_030935 commonName VAR_030935 VAR_030935 disease not phenotype-associated VAR_030936 commonName VAR_030936 VAR_030936 disease not phenotype-associated VAR_030937 commonName VAR_030937 VAR_030937 disease not phenotype-associated VAR_030939 commonName VAR_030939 VAR_030939 disease not phenotype-associated VAR_030940 commonName VAR_030940 VAR_030940 disease not phenotype-associated VAR_030941 commonName VAR_030941 VAR_030941 disease not phenotype-associated VAR_030942 commonName VAR_030942 VAR_030942 disease not phenotype-associated VAR_030943 commonName VAR_030943 VAR_030943 disease not phenotype-associated VAR_030944 commonName VAR_030944 VAR_030944 disease not phenotype-associated VAR_030945 commonName VAR_030945 VAR_030945 disease phenotype-associated VAR_030945 phenoCommon Alport syndrome autosomal recessive (APSAR) [MIM:203780] VAR_030946 commonName VAR_030946 VAR_030946 disease phenotype-associated VAR_030946 phenoCommon Alport syndrome autosomal recessive (APSAR) [MIM:203780] VAR_030947 commonName VAR_030947 VAR_030947 disease phenotype-associated VAR_030947 phenoCommon Alport syndrome autosomal recessive (APSAR) [MIM:203780] VAR_030948 commonName VAR_030948 VAR_030948 disease phenotype-associated VAR_030948 phenoCommon Benign familial hematuria (BFH) [MIM:141200] VAR_030949 commonName VAR_030949 VAR_030949 disease phenotype-associated VAR_030949 phenoCommon Benign familial hematuria (BFH) [MIM:141200] VAR_030950 commonName VAR_030950 VAR_030950 disease phenotype-associated VAR_030950 phenoCommon Alport syndrome autosomal recessive (APSAR) [MIM:203780] VAR_030951 commonName VAR_030951 VAR_030951 disease not phenotype-associated VAR_030953 commonName VAR_030953 VAR_030953 disease not phenotype-associated VAR_030954 commonName VAR_030954 VAR_030954 disease phenotype-associated VAR_030954 phenoCommon Pyruvate dehydrogenase E1-beta deficiency (PDHBD) [MIM:614111] VAR_030955 commonName VAR_030955 VAR_030955 disease phenotype-associated VAR_030955 phenoCommon Kallmann syndrome type 4 (KAL4) [MIM:610628] VAR_030956 commonName VAR_030956 VAR_030956 disease phenotype-associated VAR_030956 phenoCommon Kallmann syndrome type 4 (KAL4) [MIM:610628] VAR_030957 commonName VAR_030957 VAR_030957 disease not phenotype-associated VAR_030958 commonName VAR_030958 VAR_030958 disease phenotype-associated VAR_030958 phenoCommon Kallmann syndrome type 3 (KAL3) [MIM:244200] VAR_030959 commonName VAR_030959 VAR_030959 disease phenotype-associated VAR_030959 phenoCommon Kallmann syndrome type 3 (KAL3) [MIM:244200] VAR_030960 commonName VAR_030960 VAR_030960 disease phenotype-associated VAR_030960 phenoCommon Kallmann syndrome type 3 (KAL3) [MIM:244200] VAR_030961 commonName VAR_030961 VAR_030961 disease phenotype-associated VAR_030961 phenoCommon Kallmann syndrome type 3 (KAL3) [MIM:244200] VAR_030962 commonName VAR_030962 VAR_030962 disease phenotype-associated VAR_030962 phenoCommon Kallmann syndrome type 3 (KAL3) [MIM:244200] VAR_030963 commonName VAR_030963 VAR_030963 disease not phenotype-associated VAR_030964 commonName VAR_030964 VAR_030964 disease phenotype-associated VAR_030964 phenoCommon Kallmann syndrome type 3 (KAL3) [MIM:244200] VAR_030965 commonName VAR_030965 VAR_030965 disease phenotype-associated VAR_030965 phenoCommon Kallmann syndrome type 3 (KAL3) [MIM:244200] VAR_030966 commonName VAR_030966 VAR_030966 disease not phenotype-associated VAR_030967 commonName VAR_030967 VAR_030967 disease not phenotype-associated VAR_030968 commonName VAR_030968 VAR_030968 disease phenotype-associated VAR_030968 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110] VAR_030969 commonName VAR_030969 VAR_030969 disease not phenotype-associated VAR_030970 commonName VAR_030970 VAR_030970 disease phenotype-associated VAR_030970 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_030971 commonName VAR_030971 VAR_030971 disease phenotype-associated VAR_030971 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_030972 commonName VAR_030972 VAR_030972 disease phenotype-associated VAR_030972 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_030973 commonName VAR_030973 VAR_030973 disease phenotype-associated VAR_030973 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_030974 commonName VAR_030974 VAR_030974 disease phenotype-associated VAR_030974 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_030975 commonName VAR_030975 VAR_030975 disease not phenotype-associated VAR_030976 commonName VAR_030976 VAR_030976 disease phenotype-associated VAR_030976 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_030977 commonName VAR_030977 VAR_030977 disease phenotype-associated VAR_030977 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_030978 commonName VAR_030978 VAR_030979 commonName VAR_030979 VAR_030979 disease phenotype-associated VAR_030979 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_030980 commonName VAR_030980 VAR_030980 disease phenotype-associated VAR_030980 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_030981 commonName VAR_030981 VAR_030981 disease phenotype-associated VAR_030981 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_030982 commonName VAR_030982 VAR_030982 disease phenotype-associated VAR_030982 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_030983 commonName VAR_030983 VAR_030983 disease phenotype-associated VAR_030983 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_030984 commonName VAR_030984 VAR_030984 disease phenotype-associated VAR_030984 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_030985 commonName VAR_030985 VAR_030985 disease phenotype-associated VAR_030985 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_030986 commonName VAR_030986 VAR_030986 disease phenotype-associated VAR_030986 phenoCommon Trigonocephaly type 1 (TRIGNO1) [MIM:190440] VAR_030987 commonName VAR_030987 VAR_030987 disease phenotype-associated VAR_030987 phenoCommon Osteoglophonic dysplasia (OGD) [MIM:166250] VAR_030988 commonName VAR_030988 VAR_030988 disease phenotype-associated VAR_030988 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_030989 commonName VAR_030989 VAR_030989 disease phenotype-associated VAR_030989 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_030990 commonName VAR_030990 VAR_030990 disease phenotype-associated VAR_030990 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_030991 commonName VAR_030991 VAR_030991 disease phenotype-associated VAR_030991 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_030992 commonName VAR_030992 VAR_030993 commonName VAR_030993 VAR_030993 disease phenotype-associated VAR_030993 phenoCommon Osteoglophonic dysplasia (OGD) [MIM:166250] VAR_030994 commonName VAR_030994 VAR_030994 disease phenotype-associated VAR_030994 phenoCommon Osteoglophonic dysplasia (OGD) [MIM:166250] VAR_030995 commonName VAR_030995 VAR_030995 disease phenotype-associated VAR_030995 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_030996 commonName VAR_030996 VAR_030996 disease phenotype-associated VAR_030996 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_030997 commonName VAR_030997 VAR_030997 disease phenotype-associated VAR_030997 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_030998 commonName VAR_030998 VAR_030998 disease phenotype-associated VAR_030998 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_030999 commonName VAR_030999 VAR_030999 disease phenotype-associated VAR_030999 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_031000 commonName VAR_031000 VAR_031000 disease phenotype-associated VAR_031000 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_031001 commonName VAR_031001 VAR_031001 disease phenotype-associated VAR_031001 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_031002 commonName VAR_031002 VAR_031002 disease phenotype-associated VAR_031002 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_031003 commonName VAR_031003 VAR_031003 disease phenotype-associated VAR_031003 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_031004 commonName VAR_031004 VAR_031004 disease phenotype-associated VAR_031004 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_031005 commonName VAR_031005 VAR_031005 disease phenotype-associated VAR_031005 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110] VAR_031006 commonName VAR_031006 VAR_031006 disease phenotype-associated VAR_031006 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_031007 commonName VAR_031007 VAR_031007 disease phenotype-associated VAR_031007 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110] VAR_031008 commonName VAR_031008 VAR_031008 disease phenotype-associated VAR_031008 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_031009 commonName VAR_031009 VAR_031009 disease not phenotype-associated VAR_031010 commonName VAR_031010 VAR_031010 disease phenotype-associated VAR_031010 phenoCommon Kallmann syndrome type 2 (KAL2) [MIM:147950] VAR_031012 commonName VAR_031012 VAR_031012 disease phenotype-associated VAR_031012 phenoCommon Kallmann syndrome type 1 (KAL1) [MIM:308700] VAR_031013 commonName VAR_031013 VAR_031013 disease phenotype-associated VAR_031013 phenoCommon Kallmann syndrome type 1 (KAL1) [MIM:308700] VAR_031014 commonName VAR_031014 VAR_031014 disease phenotype-associated VAR_031014 phenoCommon Kallmann syndrome type 1 (KAL1) [MIM:308700] VAR_031015 commonName VAR_031015 VAR_031015 disease phenotype-associated VAR_031015 phenoCommon Kallmann syndrome type 1 (KAL1) [MIM:308700] VAR_031016 commonName VAR_031016 VAR_031016 disease phenotype-associated VAR_031016 phenoCommon Kallmann syndrome type 1 (KAL1) [MIM:308700] VAR_031017 commonName VAR_031017 VAR_031017 disease phenotype-associated VAR_031017 phenoCommon Kallmann syndrome type 1 (KAL1) [MIM:308700] VAR_031018 commonName VAR_031018 VAR_031018 disease phenotype-associated VAR_031018 phenoCommon Kallmann syndrome type 1 (KAL1) [MIM:308700] VAR_031019 commonName VAR_031019 VAR_031019 disease not phenotype-associated VAR_031020 commonName VAR_031020 VAR_031020 disease not phenotype-associated VAR_031021 commonName VAR_031021 VAR_031021 disease phenotype-associated VAR_031021 phenoCommon Cerebral palsy spastic quadriplegic type 1 (CPSQ1) [MIM:603513] VAR_031022 commonName VAR_031022 VAR_031022 disease not phenotype-associated VAR_031024 commonName VAR_031024 VAR_031024 disease phenotype-associated VAR_031024 phenoCommon Branchiootic syndrome type 3 (BOS3) [MIM:608389] VAR_031025 commonName VAR_031025 VAR_031025 disease phenotype-associated VAR_031025 phenoCommon Branchiootic syndrome type 3 (BOS3) [MIM:608389] VAR_031027 commonName VAR_031027 VAR_031027 disease phenotype-associated VAR_031027 phenoCommon Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550] VAR_031028 commonName VAR_031028 VAR_031028 disease phenotype-associated VAR_031028 phenoCommon Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550] VAR_031029 commonName VAR_031029 VAR_031029 disease not phenotype-associated VAR_031030 commonName VAR_031030 VAR_031030 disease phenotype-associated VAR_031030 phenoCommon Craniolenticulosutural dysplasia (CLSD) [MIM:607812] VAR_031032 commonName VAR_031032 VAR_031032 disease not phenotype-associated VAR_031033 commonName VAR_031033 VAR_031033 disease not phenotype-associated VAR_031034 commonName VAR_031034 VAR_031034 disease not phenotype-associated VAR_031035 commonName VAR_031035 VAR_031035 disease not phenotype-associated VAR_031036 commonName VAR_031036 VAR_031036 disease not phenotype-associated VAR_031037 commonName VAR_031037 VAR_031037 disease not phenotype-associated VAR_031038 commonName VAR_031038 VAR_031038 disease not phenotype-associated VAR_031039 commonName VAR_031039 VAR_031039 disease not phenotype-associated VAR_031040 commonName VAR_031040 VAR_031040 disease not phenotype-associated VAR_031042 commonName VAR_031042 VAR_031042 disease not phenotype-associated VAR_031043 commonName VAR_031043 VAR_031043 disease not phenotype-associated VAR_031044 commonName VAR_031044 VAR_031044 disease not phenotype-associated VAR_031045 commonName VAR_031045 VAR_031045 disease not phenotype-associated VAR_031046 commonName VAR_031046 VAR_031046 disease not phenotype-associated VAR_031047 commonName VAR_031047 VAR_031047 disease not phenotype-associated VAR_031048 commonName VAR_031048 VAR_031048 disease not phenotype-associated VAR_031049 commonName VAR_031049 VAR_031049 disease not phenotype-associated VAR_031050 commonName VAR_031050 VAR_031050 disease not phenotype-associated VAR_031051 commonName VAR_031051 VAR_031051 disease not phenotype-associated VAR_031052 commonName VAR_031052 VAR_031052 disease not phenotype-associated VAR_031053 commonName VAR_031053 VAR_031053 disease not phenotype-associated VAR_031054 commonName VAR_031054 VAR_031054 disease not phenotype-associated VAR_031055 commonName VAR_031055 VAR_031055 disease not phenotype-associated VAR_031056 commonName VAR_031056 VAR_031056 disease not phenotype-associated VAR_031058 commonName VAR_031058 VAR_031058 disease not phenotype-associated VAR_031059 commonName VAR_031059 VAR_031059 disease not phenotype-associated VAR_031060 commonName VAR_031060 VAR_031060 disease not phenotype-associated VAR_031062 commonName VAR_031062 VAR_031062 disease not phenotype-associated VAR_031063 commonName VAR_031063 VAR_031063 disease phenotype-associated VAR_031063 phenoCommon Partial acquired lipodystrophy (APLD) [MIM:608709] VAR_031064 commonName VAR_031064 VAR_031064 disease phenotype-associated VAR_031064 phenoCommon Partial acquired lipodystrophy (APLD) [MIM:608709] VAR_031065 commonName VAR_031065 VAR_031065 disease not phenotype-associated VAR_031066 commonName VAR_031066 VAR_031066 disease not phenotype-associated VAR_031067 commonName VAR_031067 VAR_031067 disease not phenotype-associated VAR_031068 commonName VAR_031068 VAR_031068 disease not phenotype-associated VAR_031069 commonName VAR_031069 VAR_031069 disease not phenotype-associated VAR_031070 commonName VAR_031070 VAR_031070 disease not phenotype-associated VAR_031071 commonName VAR_031071 VAR_031071 disease not phenotype-associated VAR_031073 commonName VAR_031073 VAR_031073 disease not phenotype-associated VAR_031074 commonName VAR_031074 VAR_031074 disease not phenotype-associated VAR_031075 commonName VAR_031075 VAR_031075 disease not phenotype-associated VAR_031076 commonName VAR_031076 VAR_031076 disease not phenotype-associated VAR_031077 commonName VAR_031077 VAR_031077 disease not phenotype-associated VAR_031078 commonName VAR_031078 VAR_031078 disease not phenotype-associated VAR_031079 commonName VAR_031079 VAR_031079 disease phenotype-associated VAR_031079 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] VAR_031080 commonName VAR_031080 VAR_031080 disease phenotype-associated VAR_031080 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] VAR_031081 commonName VAR_031081 VAR_031081 disease phenotype-associated VAR_031081 phenoCommon X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] VAR_031082 commonName VAR_031082 VAR_031082 disease phenotype-associated VAR_031082 phenoCommon Ichthyosis bullosa of Siemens (IBS) [MIM:146800] VAR_031083 commonName VAR_031083 VAR_031083 disease phenotype-associated VAR_031083 phenoCommon Ichthyosis bullosa of Siemens (IBS) [MIM:146800] VAR_031084 commonName VAR_031084 VAR_031084 disease phenotype-associated VAR_031084 phenoCommon Ichthyosis bullosa of Siemens (IBS) [MIM:146800] VAR_031085 commonName VAR_031085 VAR_031085 disease phenotype-associated VAR_031085 phenoCommon Ichthyosis bullosa of Siemens (IBS) [MIM:146800] VAR_031086 commonName VAR_031086 VAR_031086 disease phenotype-associated VAR_031086 phenoCommon Ichthyosis bullosa of Siemens (IBS) [MIM:146800] VAR_031087 commonName VAR_031087 VAR_031087 disease not phenotype-associated VAR_031088 commonName VAR_031088 VAR_031088 disease not phenotype-associated VAR_031089 commonName VAR_031089 VAR_031089 disease not phenotype-associated VAR_031090 commonName VAR_031090 VAR_031090 disease not phenotype-associated VAR_031091 commonName VAR_031091 VAR_031091 disease not phenotype-associated VAR_031092 commonName VAR_031092 VAR_031092 disease not phenotype-associated VAR_031093 commonName VAR_031093 VAR_031093 disease not phenotype-associated VAR_031094 commonName VAR_031094 VAR_031094 disease not phenotype-associated VAR_031095 commonName VAR_031095 VAR_031095 disease not phenotype-associated VAR_031096 commonName VAR_031096 VAR_031096 disease not phenotype-associated VAR_031097 commonName VAR_031097 VAR_031097 disease not phenotype-associated VAR_031098 commonName VAR_031098 VAR_031098 disease not phenotype-associated VAR_031099 commonName VAR_031099 VAR_031099 disease not phenotype-associated VAR_031102 commonName VAR_031102 VAR_031102 disease not phenotype-associated VAR_031103 commonName VAR_031103 VAR_031103 disease not phenotype-associated VAR_031104 commonName VAR_031104 VAR_031104 disease not phenotype-associated VAR_031108 commonName VAR_031108 VAR_031108 disease not phenotype-associated VAR_031109 commonName VAR_031109 VAR_031109 disease not phenotype-associated VAR_031110 commonName VAR_031110 VAR_031110 disease not phenotype-associated VAR_031113 commonName VAR_031113 VAR_031113 disease not phenotype-associated VAR_031114 commonName VAR_031114 VAR_031114 disease not phenotype-associated VAR_031117 commonName VAR_031117 VAR_031117 disease not phenotype-associated VAR_031118 commonName VAR_031118 VAR_031118 disease not phenotype-associated VAR_031119 commonName VAR_031119 VAR_031119 disease not phenotype-associated VAR_031120 commonName VAR_031120 VAR_031120 disease not phenotype-associated VAR_031121 commonName VAR_031121 VAR_031121 disease not phenotype-associated VAR_031122 commonName VAR_031122 VAR_031122 disease phenotype-associated VAR_031122 phenoCommon Retinitis pigmentosa type 36 (RP36) [MIM:610599] VAR_031123 commonName VAR_031123 VAR_031123 disease not phenotype-associated VAR_031124 commonName VAR_031124 VAR_031124 disease phenotype-associated VAR_031124 phenoCommon Retinitis pigmentosa type 36 (RP36) [MIM:610599] VAR_031125 commonName VAR_031125 VAR_031125 disease not phenotype-associated VAR_031126 commonName VAR_031126 VAR_031126 disease not phenotype-associated VAR_031127 commonName VAR_031127 VAR_031127 disease not phenotype-associated VAR_031129 commonName VAR_031129 VAR_031129 disease not phenotype-associated VAR_031130 commonName VAR_031130 VAR_031130 disease not phenotype-associated VAR_031131 commonName VAR_031131 VAR_031131 disease not phenotype-associated VAR_031132 commonName VAR_031132 VAR_031132 disease not phenotype-associated VAR_031133 commonName VAR_031133 VAR_031133 disease not phenotype-associated VAR_031134 commonName VAR_031134 VAR_031134 disease not phenotype-associated VAR_031135 commonName VAR_031135 VAR_031135 disease not phenotype-associated VAR_031138 commonName VAR_031138 VAR_031138 disease not phenotype-associated VAR_031139 commonName VAR_031139 VAR_031139 disease not phenotype-associated VAR_031140 commonName VAR_031140 VAR_031140 disease not phenotype-associated VAR_031141 commonName VAR_031141 VAR_031141 disease not phenotype-associated VAR_031143 commonName VAR_031143 VAR_031143 disease not phenotype-associated VAR_031144 commonName VAR_031144 VAR_031144 disease not phenotype-associated VAR_031145 commonName VAR_031145 VAR_031145 disease not phenotype-associated VAR_031146 commonName VAR_031146 VAR_031146 disease not phenotype-associated VAR_031147 commonName VAR_031147 VAR_031147 disease not phenotype-associated VAR_031148 commonName VAR_031148 VAR_031148 disease not phenotype-associated VAR_031149 commonName VAR_031149 VAR_031149 disease not phenotype-associated VAR_031150 commonName VAR_031150 VAR_031150 disease not phenotype-associated VAR_031151 commonName VAR_031151 VAR_031151 disease not phenotype-associated VAR_031153 commonName VAR_031153 VAR_031153 disease not phenotype-associated VAR_031154 commonName VAR_031154 VAR_031154 disease not phenotype-associated VAR_031155 commonName VAR_031155 VAR_031155 disease not phenotype-associated VAR_031157 commonName VAR_031157 VAR_031157 disease not phenotype-associated VAR_031158 commonName VAR_031158 VAR_031158 disease not phenotype-associated VAR_031159 commonName VAR_031159 VAR_031159 disease not phenotype-associated VAR_031160 commonName VAR_031160 VAR_031160 disease not phenotype-associated VAR_031161 commonName VAR_031161 VAR_031161 disease not phenotype-associated VAR_031162 commonName VAR_031162 VAR_031162 disease not phenotype-associated VAR_031163 commonName VAR_031163 VAR_031163 disease not phenotype-associated VAR_031164 commonName VAR_031164 VAR_031164 disease not phenotype-associated VAR_031165 commonName VAR_031165 VAR_031165 disease not phenotype-associated VAR_031166 commonName VAR_031166 VAR_031166 disease not phenotype-associated VAR_031167 commonName VAR_031167 VAR_031167 disease not phenotype-associated VAR_031169 commonName VAR_031169 VAR_031169 disease not phenotype-associated VAR_031170 commonName VAR_031170 VAR_031170 disease not phenotype-associated VAR_031171 commonName VAR_031171 VAR_031171 disease not phenotype-associated VAR_031172 commonName VAR_031172 VAR_031172 disease not phenotype-associated VAR_031173 commonName VAR_031173 VAR_031173 disease not phenotype-associated VAR_031174 commonName VAR_031174 VAR_031174 disease not phenotype-associated VAR_031175 commonName VAR_031175 VAR_031175 disease not phenotype-associated VAR_031176 commonName VAR_031176 VAR_031176 disease not phenotype-associated VAR_031177 commonName VAR_031177 VAR_031177 disease not phenotype-associated VAR_031178 commonName VAR_031178 VAR_031178 disease not phenotype-associated VAR_031179 commonName VAR_031179 VAR_031179 disease not phenotype-associated VAR_031180 commonName VAR_031180 VAR_031180 disease not phenotype-associated VAR_031181 commonName VAR_031181 VAR_031181 disease not phenotype-associated VAR_031182 commonName VAR_031182 VAR_031182 disease not phenotype-associated VAR_031183 commonName VAR_031183 VAR_031183 disease not phenotype-associated VAR_031185 commonName VAR_031185 VAR_031185 disease not phenotype-associated VAR_031186 commonName VAR_031186 VAR_031186 disease not phenotype-associated VAR_031187 commonName VAR_031187 VAR_031187 disease not phenotype-associated VAR_031189 commonName VAR_031189 VAR_031189 disease not phenotype-associated VAR_031191 commonName VAR_031191 VAR_031191 disease not phenotype-associated VAR_031192 commonName VAR_031192 VAR_031192 disease not phenotype-associated VAR_031193 commonName VAR_031193 VAR_031193 disease not phenotype-associated VAR_031194 commonName VAR_031194 VAR_031194 disease not phenotype-associated VAR_031195 commonName VAR_031195 VAR_031195 disease not phenotype-associated VAR_031196 commonName VAR_031196 VAR_031196 disease not phenotype-associated VAR_031197 commonName VAR_031197 VAR_031197 disease not phenotype-associated VAR_031198 commonName VAR_031198 VAR_031198 disease not phenotype-associated VAR_031199 commonName VAR_031199 VAR_031199 disease not phenotype-associated VAR_031200 commonName VAR_031200 VAR_031200 disease not phenotype-associated VAR_031201 commonName VAR_031201 VAR_031201 disease not phenotype-associated VAR_031202 commonName VAR_031202 VAR_031202 disease not phenotype-associated VAR_031203 commonName VAR_031203 VAR_031203 disease not phenotype-associated VAR_031204 commonName VAR_031204 VAR_031204 disease not phenotype-associated VAR_031205 commonName VAR_031205 VAR_031205 disease not phenotype-associated VAR_031206 commonName VAR_031206 VAR_031206 disease not phenotype-associated VAR_031207 commonName VAR_031207 VAR_031207 disease not phenotype-associated VAR_031208 commonName VAR_031208 VAR_031208 disease not phenotype-associated VAR_031209 commonName VAR_031209 VAR_031209 disease not phenotype-associated VAR_031210 commonName VAR_031210 VAR_031210 disease not phenotype-associated VAR_031212 commonName VAR_031212 VAR_031212 disease not phenotype-associated VAR_031213 commonName VAR_031213 VAR_031213 disease not phenotype-associated VAR_031214 commonName VAR_031214 VAR_031214 disease not phenotype-associated VAR_031215 commonName VAR_031215 VAR_031215 disease not phenotype-associated VAR_031216 commonName VAR_031216 VAR_031216 disease not phenotype-associated VAR_031217 commonName VAR_031217 VAR_031217 disease not phenotype-associated VAR_031218 commonName VAR_031218 VAR_031218 disease not phenotype-associated VAR_031219 commonName VAR_031219 VAR_031219 disease not phenotype-associated VAR_031220 commonName VAR_031220 VAR_031220 disease not phenotype-associated VAR_031221 commonName VAR_031221 VAR_031221 disease not phenotype-associated VAR_031222 commonName VAR_031222 VAR_031222 disease not phenotype-associated VAR_031223 commonName VAR_031223 VAR_031223 disease not phenotype-associated VAR_031224 commonName VAR_031224 VAR_031224 disease not phenotype-associated VAR_031225 commonName VAR_031225 VAR_031225 disease not phenotype-associated VAR_031226 commonName VAR_031226 VAR_031226 disease not phenotype-associated VAR_031227 commonName VAR_031227 VAR_031227 disease not phenotype-associated VAR_031228 commonName VAR_031228 VAR_031228 disease not phenotype-associated VAR_031229 commonName VAR_031229 VAR_031229 disease not phenotype-associated VAR_031230 commonName VAR_031230 VAR_031230 disease not phenotype-associated VAR_031231 commonName VAR_031231 VAR_031231 disease not phenotype-associated VAR_031232 commonName VAR_031232 VAR_031232 disease not phenotype-associated VAR_031233 commonName VAR_031233 VAR_031233 disease not phenotype-associated VAR_031234 commonName VAR_031234 VAR_031234 disease not phenotype-associated VAR_031235 commonName VAR_031235 VAR_031235 disease not phenotype-associated VAR_031236 commonName VAR_031236 VAR_031236 disease not phenotype-associated VAR_031237 commonName VAR_031237 VAR_031237 disease not phenotype-associated VAR_031238 commonName VAR_031238 VAR_031238 disease not phenotype-associated VAR_031239 commonName VAR_031239 VAR_031239 disease phenotype-associated VAR_031239 phenoCommon Hypomagnesemia renal with ocular involvement (HOMG5) [MIM:248190] VAR_031240 commonName VAR_031240 VAR_031240 disease phenotype-associated VAR_031240 phenoCommon Hypomagnesemia renal with ocular involvement (HOMG5) [MIM:248190] VAR_031241 commonName VAR_031241 VAR_031241 disease phenotype-associated VAR_031241 phenoCommon Hypomagnesemia renal with ocular involvement (HOMG5) [MIM:248190] VAR_031242 commonName VAR_031242 VAR_031242 disease phenotype-associated VAR_031242 phenoCommon Methionine adenosyltransferase deficiency (MATD) [MIM:250850] VAR_031243 commonName VAR_031243 VAR_031243 disease phenotype-associated VAR_031243 phenoCommon Methionine adenosyltransferase deficiency (MATD) [MIM:250850] VAR_031244 commonName VAR_031244 VAR_031244 disease phenotype-associated VAR_031244 phenoCommon Methionine adenosyltransferase deficiency (MATD) [MIM:250850] VAR_031245 commonName VAR_031245 VAR_031245 disease phenotype-associated VAR_031245 phenoCommon Methionine adenosyltransferase deficiency (MATD) [MIM:250850] VAR_031246 commonName VAR_031246 VAR_031246 disease not phenotype-associated VAR_031247 commonName VAR_031247 VAR_031247 disease not phenotype-associated VAR_031248 commonName VAR_031248 VAR_031248 disease not phenotype-associated VAR_031249 commonName VAR_031249 VAR_031249 disease not phenotype-associated VAR_031250 commonName VAR_031250 VAR_031250 disease not phenotype-associated VAR_031251 commonName VAR_031251 VAR_031251 disease not phenotype-associated VAR_031252 commonName VAR_031252 VAR_031252 disease not phenotype-associated VAR_031253 commonName VAR_031253 VAR_031253 disease not phenotype-associated VAR_031254 commonName VAR_031254 VAR_031254 disease not phenotype-associated VAR_031255 commonName VAR_031255 VAR_031255 disease not phenotype-associated VAR_031256 commonName VAR_031256 VAR_031256 disease not phenotype-associated VAR_031257 commonName VAR_031257 VAR_031257 disease not phenotype-associated VAR_031258 commonName VAR_031258 VAR_031258 disease not phenotype-associated VAR_031259 commonName VAR_031259 VAR_031259 disease not phenotype-associated VAR_031260 commonName VAR_031260 VAR_031260 disease not phenotype-associated VAR_031261 commonName VAR_031261 VAR_031261 disease not phenotype-associated VAR_031262 commonName VAR_031262 VAR_031262 disease not phenotype-associated VAR_031263 commonName VAR_031263 VAR_031263 disease not phenotype-associated VAR_031264 commonName VAR_031264 VAR_031264 disease not phenotype-associated VAR_031265 commonName VAR_031265 VAR_031265 disease not phenotype-associated VAR_031266 commonName VAR_031266 VAR_031266 disease not phenotype-associated VAR_031267 commonName VAR_031267 VAR_031267 disease not phenotype-associated VAR_031280 commonName VAR_031280 VAR_031280 disease not phenotype-associated VAR_031281 commonName VAR_031281 VAR_031281 disease not phenotype-associated VAR_031282 commonName VAR_031282 VAR_031282 disease not phenotype-associated VAR_031283 commonName VAR_031283 VAR_031283 disease not phenotype-associated VAR_031284 commonName VAR_031284 VAR_031284 disease not phenotype-associated VAR_031285 commonName VAR_031285 VAR_031285 disease not phenotype-associated VAR_031286 commonName VAR_031286 VAR_031286 disease not phenotype-associated VAR_031287 commonName VAR_031287 VAR_031287 disease not phenotype-associated VAR_031288 commonName VAR_031288 VAR_031288 disease not phenotype-associated VAR_031289 commonName VAR_031289 VAR_031289 disease not phenotype-associated VAR_031290 commonName VAR_031290 VAR_031290 disease not phenotype-associated VAR_031291 commonName VAR_031291 VAR_031291 disease not phenotype-associated VAR_031292 commonName VAR_031292 VAR_031292 disease not phenotype-associated VAR_031293 commonName VAR_031293 VAR_031293 disease not phenotype-associated VAR_031294 commonName VAR_031294 VAR_031294 disease not phenotype-associated VAR_031295 commonName VAR_031295 VAR_031295 disease not phenotype-associated VAR_031296 commonName VAR_031296 VAR_031296 disease not phenotype-associated VAR_031297 commonName VAR_031297 VAR_031297 disease not phenotype-associated VAR_031298 commonName VAR_031298 VAR_031298 disease not phenotype-associated VAR_031299 commonName VAR_031299 VAR_031299 disease not phenotype-associated VAR_031300 commonName VAR_031300 VAR_031300 disease not phenotype-associated VAR_031301 commonName VAR_031301 VAR_031301 disease not phenotype-associated VAR_031302 commonName VAR_031302 VAR_031302 disease not phenotype-associated VAR_031303 commonName VAR_031303 VAR_031303 disease not phenotype-associated VAR_031304 commonName VAR_031304 VAR_031304 disease not phenotype-associated VAR_031305 commonName VAR_031305 VAR_031305 disease phenotype-associated VAR_031305 phenoCommon Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049] VAR_031306 commonName VAR_031306 VAR_031306 disease phenotype-associated VAR_031306 phenoCommon Periventricular nodular heterotopia type 4 (PVNH4) [MIM:300537] VAR_031307 commonName VAR_031307 VAR_031307 disease phenotype-associated VAR_031307 phenoCommon Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049] VAR_031308 commonName VAR_031308 VAR_031308 disease phenotype-associated VAR_031308 phenoCommon Otopalatodigital syndrome type 1 (OPD1) [MIM:311300] VAR_031309 commonName VAR_031309 VAR_031309 disease phenotype-associated VAR_031309 phenoCommon Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049] VAR_031310 commonName VAR_031310 VAR_031310 disease not phenotype-associated VAR_031312 commonName VAR_031312 VAR_031312 disease phenotype-associated VAR_031312 phenoCommon Frontometaphyseal dysplasia (FMD) [MIM:305620] VAR_031313 commonName VAR_031313 VAR_031313 disease not phenotype-associated VAR_031314 commonName VAR_031314 VAR_031314 disease not phenotype-associated VAR_031315 commonName VAR_031315 VAR_031315 disease not phenotype-associated VAR_031316 commonName VAR_031316 VAR_031316 disease not phenotype-associated VAR_031317 commonName VAR_031317 VAR_031317 disease not phenotype-associated VAR_031318 commonName VAR_031318 VAR_031318 disease not phenotype-associated VAR_031319 commonName VAR_031319 VAR_031319 disease not phenotype-associated VAR_031320 commonName VAR_031320 VAR_031320 disease not phenotype-associated VAR_031321 commonName VAR_031321 VAR_031321 disease not phenotype-associated VAR_031322 commonName VAR_031322 VAR_031322 disease not phenotype-associated VAR_031323 commonName VAR_031323 VAR_031323 disease not phenotype-associated VAR_031324 commonName VAR_031324 VAR_031324 disease not phenotype-associated VAR_031325 commonName VAR_031325 VAR_031325 disease not phenotype-associated VAR_031327 commonName VAR_031327 VAR_031327 disease phenotype-associated VAR_031327 phenoCommon Meesmann corneal dystrophy (MECD) [MIM:122100] VAR_031328 commonName VAR_031328 VAR_031328 disease phenotype-associated VAR_031328 phenoCommon Infantile Refsum disease (IRD) [MIM:266510] VAR_031349 commonName VAR_031349 VAR_031349 disease phenotype-associated VAR_031349 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031350 commonName VAR_031350 VAR_031350 disease phenotype-associated VAR_031350 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031351 commonName VAR_031351 VAR_031351 disease phenotype-associated VAR_031351 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031352 commonName VAR_031352 VAR_031352 disease phenotype-associated VAR_031352 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031353 commonName VAR_031353 VAR_031353 disease phenotype-associated VAR_031353 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031354 commonName VAR_031354 VAR_031354 disease phenotype-associated VAR_031354 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] VAR_031355 commonName VAR_031355 VAR_031355 disease phenotype-associated VAR_031355 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031356 commonName VAR_031356 VAR_031356 disease phenotype-associated VAR_031356 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031357 commonName VAR_031357 VAR_031357 disease phenotype-associated VAR_031357 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031358 commonName VAR_031358 VAR_031358 disease phenotype-associated VAR_031358 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031359 commonName VAR_031359 VAR_031359 disease phenotype-associated VAR_031359 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031360 commonName VAR_031360 VAR_031360 disease phenotype-associated VAR_031360 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031361 commonName VAR_031361 VAR_031361 disease phenotype-associated VAR_031361 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031362 commonName VAR_031362 VAR_031362 disease phenotype-associated VAR_031362 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031363 commonName VAR_031363 VAR_031363 disease phenotype-associated VAR_031363 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031364 commonName VAR_031364 VAR_031364 disease phenotype-associated VAR_031364 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031365 commonName VAR_031365 VAR_031365 disease phenotype-associated VAR_031365 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031366 commonName VAR_031366 VAR_031366 disease phenotype-associated VAR_031366 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031367 commonName VAR_031367 VAR_031367 disease phenotype-associated VAR_031367 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031368 commonName VAR_031368 VAR_031368 disease phenotype-associated VAR_031368 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031369 commonName VAR_031369 VAR_031369 disease phenotype-associated VAR_031369 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031370 commonName VAR_031370 VAR_031370 disease phenotype-associated VAR_031370 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031371 commonName VAR_031371 VAR_031371 disease phenotype-associated VAR_031371 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031372 commonName VAR_031372 VAR_031372 disease phenotype-associated VAR_031372 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031373 commonName VAR_031373 VAR_031373 disease phenotype-associated VAR_031373 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031374 commonName VAR_031374 VAR_031374 disease phenotype-associated VAR_031374 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031375 commonName VAR_031375 VAR_031375 disease phenotype-associated VAR_031375 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031376 commonName VAR_031376 VAR_031376 disease phenotype-associated VAR_031376 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031377 commonName VAR_031377 VAR_031377 disease phenotype-associated VAR_031377 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031378 commonName VAR_031378 VAR_031378 disease phenotype-associated VAR_031378 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031379 commonName VAR_031379 VAR_031379 disease phenotype-associated VAR_031379 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031380 commonName VAR_031380 VAR_031380 disease phenotype-associated VAR_031380 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031381 commonName VAR_031381 VAR_031381 disease phenotype-associated VAR_031381 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031382 commonName VAR_031382 VAR_031382 disease phenotype-associated VAR_031382 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031383 commonName VAR_031383 VAR_031383 disease phenotype-associated VAR_031383 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031384 commonName VAR_031384 VAR_031384 disease phenotype-associated VAR_031384 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031385 commonName VAR_031385 VAR_031385 disease phenotype-associated VAR_031385 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031386 commonName VAR_031386 VAR_031386 disease phenotype-associated VAR_031386 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031387 commonName VAR_031387 VAR_031387 disease phenotype-associated VAR_031387 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031388 commonName VAR_031388 VAR_031388 disease phenotype-associated VAR_031388 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031389 commonName VAR_031389 VAR_031389 disease phenotype-associated VAR_031389 phenoCommon Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450] VAR_031390 commonName VAR_031390 VAR_031390 disease not phenotype-associated VAR_031391 commonName VAR_031391 VAR_031391 disease not phenotype-associated VAR_031392 commonName VAR_031392 VAR_031392 disease not phenotype-associated VAR_031393 commonName VAR_031393 VAR_031393 disease not phenotype-associated VAR_031394 commonName VAR_031394 VAR_031394 disease phenotype-associated VAR_031394 phenoCommon Meesmann corneal dystrophy (MECD) [MIM:122100] VAR_031395 commonName VAR_031395 VAR_031395 disease phenotype-associated VAR_031395 phenoCommon Meesmann corneal dystrophy (MECD) [MIM:122100] VAR_031397 commonName VAR_031397 VAR_031397 disease phenotype-associated VAR_031397 phenoCommon Meesmann corneal dystrophy (MECD) [MIM:122100] VAR_031398 commonName VAR_031398 VAR_031398 disease phenotype-associated VAR_031398 phenoCommon Meesmann corneal dystrophy (MECD) [MIM:122100] VAR_031399 commonName VAR_031399 VAR_031399 disease not phenotype-associated VAR_031400 commonName VAR_031400 VAR_031400 disease not phenotype-associated VAR_031401 commonName VAR_031401 VAR_031401 disease not phenotype-associated VAR_031402 commonName VAR_031402 VAR_031402 disease not phenotype-associated VAR_031403 commonName VAR_031403 VAR_031403 disease not phenotype-associated VAR_031404 commonName VAR_031404 VAR_031404 disease not phenotype-associated VAR_031405 commonName VAR_031405 VAR_031405 disease not phenotype-associated VAR_031406 commonName VAR_031406 VAR_031406 disease not phenotype-associated VAR_031407 commonName VAR_031407 VAR_031407 disease not phenotype-associated VAR_031408 commonName VAR_031408 VAR_031408 disease not phenotype-associated VAR_031409 commonName VAR_031409 VAR_031409 disease not phenotype-associated VAR_031410 commonName VAR_031410 VAR_031410 disease not phenotype-associated VAR_031411 commonName VAR_031411 VAR_031411 disease not phenotype-associated VAR_031412 commonName VAR_031412 VAR_031412 disease not phenotype-associated VAR_031414 commonName VAR_031414 VAR_031414 disease not phenotype-associated VAR_031415 commonName VAR_031415 VAR_031415 disease not phenotype-associated VAR_031417 commonName VAR_031417 VAR_031417 disease not phenotype-associated VAR_031418 commonName VAR_031418 VAR_031418 disease not phenotype-associated VAR_031419 commonName VAR_031419 VAR_031419 disease not phenotype-associated VAR_031421 commonName VAR_031421 VAR_031421 disease not phenotype-associated VAR_031422 commonName VAR_031422 VAR_031422 disease not phenotype-associated VAR_031423 commonName VAR_031423 VAR_031423 disease not phenotype-associated VAR_031424 commonName VAR_031424 VAR_031424 disease not phenotype-associated VAR_031425 commonName VAR_031425 VAR_031425 disease not phenotype-associated VAR_031426 commonName VAR_031426 VAR_031426 disease not phenotype-associated VAR_031427 commonName VAR_031427 VAR_031427 disease not phenotype-associated VAR_031428 commonName VAR_031428 VAR_031428 disease not phenotype-associated VAR_031429 commonName VAR_031429 VAR_031429 disease not phenotype-associated VAR_031430 commonName VAR_031430 VAR_031430 disease not phenotype-associated VAR_031431 commonName VAR_031431 VAR_031431 disease not phenotype-associated VAR_031432 commonName VAR_031432 VAR_031432 disease not phenotype-associated VAR_031433 commonName VAR_031433 VAR_031433 disease not phenotype-associated VAR_031434 commonName VAR_031434 VAR_031434 disease not phenotype-associated VAR_031435 commonName VAR_031435 VAR_031435 disease not phenotype-associated VAR_031436 commonName VAR_031436 VAR_031436 disease not phenotype-associated VAR_031437 commonName VAR_031437 VAR_031437 disease not phenotype-associated VAR_031439 commonName VAR_031439 VAR_031439 disease not phenotype-associated VAR_031440 commonName VAR_031440 VAR_031440 disease not phenotype-associated VAR_031441 commonName VAR_031441 VAR_031441 disease not phenotype-associated VAR_031442 commonName VAR_031442 VAR_031442 disease not phenotype-associated VAR_031445 commonName VAR_031445 VAR_031445 disease not phenotype-associated VAR_031446 commonName VAR_031446 VAR_031446 disease not phenotype-associated VAR_031447 commonName VAR_031447 VAR_031447 disease not phenotype-associated VAR_031448 commonName VAR_031448 VAR_031448 disease not phenotype-associated VAR_031449 commonName VAR_031449 VAR_031449 disease not phenotype-associated VAR_031450 commonName VAR_031450 VAR_031450 disease not phenotype-associated VAR_031451 commonName VAR_031451 VAR_031451 disease not phenotype-associated VAR_031452 commonName VAR_031452 VAR_031452 disease not phenotype-associated VAR_031453 commonName VAR_031453 VAR_031453 disease not phenotype-associated VAR_031454 commonName VAR_031454 VAR_031454 disease not phenotype-associated VAR_031455 commonName VAR_031455 VAR_031455 disease not phenotype-associated VAR_031456 commonName VAR_031456 VAR_031456 disease not phenotype-associated VAR_031457 commonName VAR_031457 VAR_031457 disease not phenotype-associated VAR_031458 commonName VAR_031458 VAR_031458 disease not phenotype-associated VAR_031459 commonName VAR_031459 VAR_031459 disease not phenotype-associated VAR_031460 commonName VAR_031460 VAR_031460 disease not phenotype-associated VAR_031461 commonName VAR_031461 VAR_031461 disease not phenotype-associated VAR_031462 commonName VAR_031462 VAR_031462 disease not phenotype-associated VAR_031463 commonName VAR_031463 VAR_031463 disease not phenotype-associated VAR_031464 commonName VAR_031464 VAR_031464 disease not phenotype-associated VAR_031465 commonName VAR_031465 VAR_031465 disease not phenotype-associated VAR_031466 commonName VAR_031466 VAR_031466 disease not phenotype-associated VAR_031467 commonName VAR_031467 VAR_031467 disease not phenotype-associated VAR_031468 commonName VAR_031468 VAR_031468 disease not phenotype-associated VAR_031469 commonName VAR_031469 VAR_031469 disease not phenotype-associated VAR_031470 commonName VAR_031470 VAR_031470 disease not phenotype-associated VAR_031471 commonName VAR_031471 VAR_031471 disease not phenotype-associated VAR_031472 commonName VAR_031472 VAR_031472 disease not phenotype-associated VAR_031473 commonName VAR_031473 VAR_031473 disease not phenotype-associated VAR_031474 commonName VAR_031474 VAR_031474 disease not phenotype-associated VAR_031477 commonName VAR_031477 VAR_031477 disease not phenotype-associated VAR_031478 commonName VAR_031478 VAR_031478 disease not phenotype-associated VAR_031479 commonName VAR_031479 VAR_031479 disease not phenotype-associated VAR_031480 commonName VAR_031480 VAR_031480 disease not phenotype-associated VAR_031481 commonName VAR_031481 VAR_031481 disease not phenotype-associated VAR_031482 commonName VAR_031482 VAR_031482 disease not phenotype-associated VAR_031483 commonName VAR_031483 VAR_031483 disease not phenotype-associated VAR_031484 commonName VAR_031484 VAR_031484 disease not phenotype-associated VAR_031485 commonName VAR_031485 VAR_031485 disease not phenotype-associated VAR_031486 commonName VAR_031486 VAR_031486 disease not phenotype-associated VAR_031487 commonName VAR_031487 VAR_031487 disease not phenotype-associated VAR_031488 commonName VAR_031488 VAR_031488 disease not phenotype-associated VAR_031489 commonName VAR_031489 VAR_031489 disease not phenotype-associated VAR_031490 commonName VAR_031490 VAR_031490 disease not phenotype-associated VAR_031491 commonName VAR_031491 VAR_031491 disease not phenotype-associated VAR_031492 commonName VAR_031492 VAR_031492 disease not phenotype-associated VAR_031493 commonName VAR_031493 VAR_031493 disease not phenotype-associated VAR_031494 commonName VAR_031494 VAR_031494 disease not phenotype-associated VAR_031495 commonName VAR_031495 VAR_031495 disease not phenotype-associated VAR_031496 commonName VAR_031496 VAR_031496 disease not phenotype-associated VAR_031497 commonName VAR_031497 VAR_031497 disease not phenotype-associated VAR_031498 commonName VAR_031498 VAR_031498 disease not phenotype-associated VAR_031499 commonName VAR_031499 VAR_031499 disease not phenotype-associated VAR_031500 commonName VAR_031500 VAR_031500 disease phenotype-associated VAR_031500 phenoCommon Factor XII deficiency (FA12D) [MIM:234000] VAR_031501 commonName VAR_031501 VAR_031501 disease phenotype-associated VAR_031501 phenoCommon Hereditary angioedema type 3 (HAE3) [MIM:610618] VAR_031502 commonName VAR_031502 VAR_031502 disease phenotype-associated VAR_031502 phenoCommon Hereditary angioedema type 3 (HAE3) [MIM:610618] VAR_031503 commonName VAR_031503 VAR_031503 disease phenotype-associated VAR_031503 phenoCommon Factor XII deficiency (FA12D) [MIM:234000] VAR_031504 commonName VAR_031504 VAR_031504 disease phenotype-associated VAR_031504 phenoCommon Factor XII deficiency (FA12D) [MIM:234000] VAR_031505 commonName VAR_031505 VAR_031505 disease phenotype-associated VAR_031505 phenoCommon Factor XII deficiency (FA12D) [MIM:234000] VAR_031506 commonName VAR_031506 VAR_031506 disease phenotype-associated VAR_031506 phenoCommon Factor XII deficiency (FA12D) [MIM:234000] VAR_031507 commonName VAR_031507 VAR_031507 disease phenotype-associated VAR_031507 phenoCommon Factor XII deficiency (FA12D) [MIM:234000] VAR_031508 commonName VAR_031508 VAR_031508 disease phenotype-associated VAR_031508 phenoCommon Factor XII deficiency (FA12D) [MIM:234000] VAR_031509 commonName VAR_031509 VAR_031509 disease phenotype-associated VAR_031509 phenoCommon Factor XII deficiency (FA12D) [MIM:234000] VAR_031510 commonName VAR_031510 VAR_031510 disease not phenotype-associated VAR_031511 commonName VAR_031511 VAR_031511 disease not phenotype-associated VAR_031512 commonName VAR_031512 VAR_031512 disease not phenotype-associated VAR_031513 commonName VAR_031513 VAR_031514 commonName VAR_031514 VAR_031514 disease not phenotype-associated VAR_031515 commonName VAR_031515 VAR_031516 commonName VAR_031516 VAR_031516 disease not phenotype-associated VAR_031517 commonName VAR_031517 VAR_031517 disease not phenotype-associated VAR_031518 commonName VAR_031518 VAR_031518 disease phenotype-associated VAR_031518 phenoCommon Leprechaunism (LEPRCH) [MIM:246200] VAR_031519 commonName VAR_031519 VAR_031519 disease phenotype-associated VAR_031519 phenoCommon Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] VAR_031520 commonName VAR_031520 VAR_031520 disease phenotype-associated VAR_031520 phenoCommon Rabson-Mendenhall syndrome (RMS) [MIM:262190] VAR_031521 commonName VAR_031521 VAR_031521 disease phenotype-associated VAR_031521 phenoCommon Leprechaunism (LEPRCH) [MIM:246200] VAR_031522 commonName VAR_031522 VAR_031522 disease not phenotype-associated VAR_031523 commonName VAR_031523 VAR_031523 disease phenotype-associated VAR_031523 phenoCommon Maturity-onset diabetes of the young type 7 (MODY7) [MIM:610508] VAR_031524 commonName VAR_031524 VAR_031524 disease phenotype-associated VAR_031524 phenoCommon Maturity-onset diabetes of the young type 7 (MODY7) [MIM:610508] VAR_031525 commonName VAR_031525 VAR_031525 disease not phenotype-associated VAR_031526 commonName VAR_031526 VAR_031526 disease not phenotype-associated VAR_031527 commonName VAR_031527 VAR_031527 disease not phenotype-associated VAR_031528 commonName VAR_031528 VAR_031528 disease not phenotype-associated VAR_031529 commonName VAR_031529 VAR_031529 disease phenotype-associated VAR_031529 phenoCommon Normophosphatemic familial tumoral calcinosis (NFTC) [MIM:610455] VAR_031530 commonName VAR_031530 VAR_031530 disease phenotype-associated VAR_031530 phenoCommon Sveinsson chorioretinal atrophy (SCRA) [MIM:108985] VAR_031531 commonName VAR_031531 VAR_031532 commonName VAR_031532 VAR_031533 commonName VAR_031533 VAR_031533 disease not phenotype-associated VAR_031534 commonName VAR_031534 VAR_031534 disease not phenotype-associated VAR_031535 commonName VAR_031535 VAR_031535 disease phenotype-associated VAR_031535 phenoCommon Corneal dystrophy lattice type 1 (CDL1) [MIM:122200] VAR_031536 commonName VAR_031536 VAR_031536 disease phenotype-associated VAR_031536 phenoCommon Epithelial basement membrane corneal dystrophy (EBMD) [MIM:121820] VAR_031547 commonName VAR_031547 VAR_031547 disease not phenotype-associated VAR_031552 commonName VAR_031552 VAR_031552 disease not phenotype-associated VAR_031555 commonName VAR_031555 VAR_031555 disease not phenotype-associated VAR_031556 commonName VAR_031556 VAR_031556 disease not phenotype-associated VAR_031557 commonName VAR_031557 VAR_031557 disease not phenotype-associated VAR_031558 commonName VAR_031558 VAR_031558 disease not phenotype-associated VAR_031559 commonName VAR_031559 VAR_031559 disease not phenotype-associated VAR_031560 commonName VAR_031560 VAR_031560 disease not phenotype-associated VAR_031561 commonName VAR_031561 VAR_031561 disease not phenotype-associated VAR_031562 commonName VAR_031562 VAR_031562 disease not phenotype-associated VAR_031564 commonName VAR_031564 VAR_031564 disease not phenotype-associated VAR_031565 commonName VAR_031565 VAR_031565 disease not phenotype-associated VAR_031566 commonName VAR_031566 VAR_031566 disease not phenotype-associated VAR_031567 commonName VAR_031567 VAR_031567 disease not phenotype-associated VAR_031569 commonName VAR_031569 VAR_031569 disease not phenotype-associated VAR_031570 commonName VAR_031570 VAR_031570 disease not phenotype-associated VAR_031571 commonName VAR_031571 VAR_031571 disease not phenotype-associated VAR_031572 commonName VAR_031572 VAR_031572 disease not phenotype-associated VAR_031577 commonName VAR_031577 VAR_031577 disease not phenotype-associated VAR_031578 commonName VAR_031578 VAR_031578 disease not phenotype-associated VAR_031579 commonName VAR_031579 VAR_031579 disease not phenotype-associated VAR_031580 commonName VAR_031580 VAR_031580 disease not phenotype-associated VAR_031581 commonName VAR_031581 VAR_031581 disease not phenotype-associated VAR_031586 commonName VAR_031586 VAR_031586 disease not phenotype-associated VAR_031587 commonName VAR_031587 VAR_031587 disease not phenotype-associated VAR_031588 commonName VAR_031588 VAR_031588 disease not phenotype-associated VAR_031589 commonName VAR_031589 VAR_031589 disease not phenotype-associated VAR_031590 commonName VAR_031590 VAR_031590 disease not phenotype-associated VAR_031591 commonName VAR_031591 VAR_031591 disease not phenotype-associated VAR_031592 commonName VAR_031592 VAR_031592 disease not phenotype-associated VAR_031593 commonName VAR_031593 VAR_031593 disease not phenotype-associated VAR_031594 commonName VAR_031594 VAR_031594 disease not phenotype-associated VAR_031595 commonName VAR_031595 VAR_031595 disease not phenotype-associated VAR_031596 commonName VAR_031596 VAR_031596 disease not phenotype-associated VAR_031597 commonName VAR_031597 VAR_031597 disease not phenotype-associated VAR_031598 commonName VAR_031598 VAR_031598 disease not phenotype-associated VAR_031599 commonName VAR_031599 VAR_031599 disease not phenotype-associated VAR_031600 commonName VAR_031600 VAR_031600 disease not phenotype-associated VAR_031601 commonName VAR_031601 VAR_031601 disease not phenotype-associated VAR_031602 commonName VAR_031602 VAR_031602 disease not phenotype-associated VAR_031603 commonName VAR_031603 VAR_031603 disease not phenotype-associated VAR_031604 commonName VAR_031604 VAR_031604 disease not phenotype-associated VAR_031606 commonName VAR_031606 VAR_031606 disease not phenotype-associated VAR_031607 commonName VAR_031607 VAR_031607 disease not phenotype-associated VAR_031609 commonName VAR_031609 VAR_031609 disease not phenotype-associated VAR_031610 commonName VAR_031610 VAR_031610 disease not phenotype-associated VAR_031611 commonName VAR_031611 VAR_031611 disease not phenotype-associated VAR_031613 commonName VAR_031613 VAR_031613 disease not phenotype-associated VAR_031616 commonName VAR_031616 VAR_031616 disease not phenotype-associated VAR_031617 commonName VAR_031617 VAR_031617 disease not phenotype-associated VAR_031618 commonName VAR_031618 VAR_031618 disease not phenotype-associated VAR_031619 commonName VAR_031619 VAR_031619 disease not phenotype-associated VAR_031620 commonName VAR_031620 VAR_031620 disease not phenotype-associated VAR_031621 commonName VAR_031621 VAR_031621 disease not phenotype-associated VAR_031622 commonName VAR_031622 VAR_031622 disease not phenotype-associated VAR_031623 commonName VAR_031623 VAR_031623 disease phenotype-associated VAR_031623 phenoCommon Benign familial hematuria (BFH) [MIM:141200] VAR_031624 commonName VAR_031624 VAR_031624 disease phenotype-associated VAR_031624 phenoCommon Benign familial hematuria (BFH) [MIM:141200] VAR_031625 commonName VAR_031625 VAR_031625 disease phenotype-associated VAR_031625 phenoCommon Benign familial hematuria (BFH) [MIM:141200] VAR_031626 commonName VAR_031626 VAR_031626 disease phenotype-associated VAR_031626 phenoCommon Benign familial hematuria (BFH) [MIM:141200] VAR_031627 commonName VAR_031627 VAR_031627 disease not phenotype-associated VAR_031628 commonName VAR_031628 VAR_031628 disease not phenotype-associated VAR_031629 commonName VAR_031629 VAR_031629 disease not phenotype-associated VAR_031631 commonName VAR_031631 VAR_031631 disease not phenotype-associated VAR_031632 commonName VAR_031632 VAR_031632 disease not phenotype-associated VAR_031635 commonName VAR_031635 VAR_031635 disease phenotype-associated VAR_031635 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] VAR_031636 commonName VAR_031636 VAR_031636 disease phenotype-associated VAR_031636 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_031637 commonName VAR_031637 VAR_031637 disease phenotype-associated VAR_031637 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_031638 commonName VAR_031638 VAR_031638 disease phenotype-associated VAR_031638 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_031639 commonName VAR_031639 VAR_031639 disease phenotype-associated VAR_031639 phenoCommon Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760] VAR_031640 commonName VAR_031640 VAR_031640 disease phenotype-associated VAR_031640 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] VAR_031641 commonName VAR_031641 VAR_031641 disease phenotype-associated VAR_031641 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_031642 commonName VAR_031642 VAR_031642 disease phenotype-associated VAR_031642 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] VAR_031643 commonName VAR_031643 VAR_031643 disease phenotype-associated VAR_031643 phenoCommon Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900] VAR_031644 commonName VAR_031644 VAR_031644 disease phenotype-associated VAR_031644 phenoCommon Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800] VAR_031647 commonName VAR_031647 VAR_031647 disease not phenotype-associated VAR_031650 commonName VAR_031650 VAR_031650 disease not phenotype-associated VAR_031651 commonName VAR_031651 VAR_031651 disease phenotype-associated VAR_031651 phenoCommon Synpolydactyly 1 (SPD1) [MIM:186000] VAR_031652 commonName VAR_031652 VAR_031652 disease phenotype-associated VAR_031652 phenoCommon Syndactyly type 5 (SDTY5) [MIM:186300] VAR_031653 commonName VAR_031653 VAR_031653 disease not phenotype-associated VAR_031654 commonName VAR_031654 VAR_031654 disease not phenotype-associated VAR_031655 commonName VAR_031655 VAR_031655 disease not phenotype-associated VAR_031656 commonName VAR_031656 VAR_031656 disease not phenotype-associated VAR_031657 commonName VAR_031657 VAR_031657 disease not phenotype-associated VAR_031658 commonName VAR_031658 VAR_031658 disease not phenotype-associated VAR_031659 commonName VAR_031659 VAR_031659 disease not phenotype-associated VAR_031660 commonName VAR_031660 VAR_031660 disease not phenotype-associated VAR_031661 commonName VAR_031661 VAR_031661 disease not phenotype-associated VAR_031662 commonName VAR_031662 VAR_031662 disease not phenotype-associated VAR_031663 commonName VAR_031663 VAR_031663 disease not phenotype-associated VAR_031664 commonName VAR_031664 VAR_031664 disease not phenotype-associated VAR_031665 commonName VAR_031665 VAR_031665 disease not phenotype-associated VAR_031666 commonName VAR_031666 VAR_031666 disease not phenotype-associated VAR_031667 commonName VAR_031667 VAR_031667 disease not phenotype-associated VAR_031669 commonName VAR_031669 VAR_031669 disease not phenotype-associated VAR_031670 commonName VAR_031670 VAR_031670 disease not phenotype-associated VAR_031671 commonName VAR_031671 VAR_031671 disease not phenotype-associated VAR_031672 commonName VAR_031672 VAR_031672 disease not phenotype-associated VAR_031673 commonName VAR_031673 VAR_031673 disease not phenotype-associated VAR_031674 commonName VAR_031674 VAR_031674 disease not phenotype-associated VAR_031675 commonName VAR_031675 VAR_031675 disease not phenotype-associated VAR_031676 commonName VAR_031676 VAR_031676 disease not phenotype-associated VAR_031677 commonName VAR_031677 VAR_031677 disease not phenotype-associated VAR_031679 commonName VAR_031679 VAR_031679 disease not phenotype-associated VAR_031680 commonName VAR_031680 VAR_031680 disease not phenotype-associated VAR_031681 commonName VAR_031681 VAR_031681 disease not phenotype-associated VAR_031684 commonName VAR_031684 VAR_031684 disease not phenotype-associated VAR_031686 commonName VAR_031686 VAR_031686 disease not phenotype-associated VAR_031687 commonName VAR_031687 VAR_031687 disease not phenotype-associated VAR_031688 commonName VAR_031688 VAR_031688 disease not phenotype-associated VAR_031689 commonName VAR_031689 VAR_031689 disease not phenotype-associated VAR_031690 commonName VAR_031690 VAR_031690 disease not phenotype-associated VAR_031691 commonName VAR_031691 VAR_031691 disease not phenotype-associated VAR_031692 commonName VAR_031692 VAR_031692 disease not phenotype-associated VAR_031693 commonName VAR_031693 VAR_031693 disease not phenotype-associated VAR_031694 commonName VAR_031694 VAR_031694 disease not phenotype-associated VAR_031695 commonName VAR_031695 VAR_031695 disease not phenotype-associated VAR_031696 commonName VAR_031696 VAR_031696 disease not phenotype-associated VAR_031697 commonName VAR_031697 VAR_031697 disease not phenotype-associated VAR_031698 commonName VAR_031698 VAR_031698 disease not phenotype-associated VAR_031703 commonName VAR_031703 VAR_031703 disease not phenotype-associated VAR_031704 commonName VAR_031704 VAR_031704 disease not phenotype-associated VAR_031705 commonName VAR_031705 VAR_031705 disease not phenotype-associated VAR_031706 commonName VAR_031706 VAR_031706 disease not phenotype-associated VAR_031707 commonName VAR_031707 VAR_031707 disease not phenotype-associated VAR_031708 commonName VAR_031708 VAR_031708 disease not phenotype-associated VAR_031709 commonName VAR_031709 VAR_031709 disease not phenotype-associated VAR_031710 commonName VAR_031710 VAR_031710 disease not phenotype-associated VAR_031711 commonName VAR_031711 VAR_031711 disease not phenotype-associated VAR_031712 commonName VAR_031712 VAR_031712 disease not phenotype-associated VAR_031713 commonName VAR_031713 VAR_031713 disease not phenotype-associated VAR_031714 commonName VAR_031714 VAR_031714 disease not phenotype-associated VAR_031718 commonName VAR_031718 VAR_031718 disease phenotype-associated VAR_031718 phenoCommon Pyridoxine-dependent epilepsy (PDE) [MIM:266100] VAR_031719 commonName VAR_031719 VAR_031719 disease phenotype-associated VAR_031719 phenoCommon Pyridoxine-dependent epilepsy (PDE) [MIM:266100] VAR_031720 commonName VAR_031720 VAR_031720 disease not phenotype-associated VAR_031721 commonName VAR_031721 VAR_031721 disease not phenotype-associated VAR_031722 commonName VAR_031722 VAR_031722 disease not phenotype-associated VAR_031723 commonName VAR_031723 VAR_031723 disease not phenotype-associated VAR_031724 commonName VAR_031724 VAR_031724 disease not phenotype-associated VAR_031725 commonName VAR_031725 VAR_031725 disease not phenotype-associated VAR_031726 commonName VAR_031726 VAR_031726 disease not phenotype-associated VAR_031727 commonName VAR_031727 VAR_031727 disease not phenotype-associated VAR_031728 commonName VAR_031728 VAR_031728 disease not phenotype-associated VAR_031731 commonName VAR_031731 VAR_031731 disease not phenotype-associated VAR_031732 commonName VAR_031732 VAR_031732 disease not phenotype-associated VAR_031733 commonName VAR_031733 VAR_031733 disease phenotype-associated VAR_031733 phenoCommon Episodic ataxia type 6 (EA6) [MIM:612656] VAR_031735 commonName VAR_031735 VAR_031735 disease phenotype-associated VAR_031735 phenoCommon Familial aortic aneurysm thoracic type 4 (AAT4) [MIM:132900] VAR_031736 commonName VAR_031736 VAR_031736 disease phenotype-associated VAR_031736 phenoCommon Ichthyosis congenital autosomal recessive ichthyin-related (ARCII) [MIM:612281] VAR_031737 commonName VAR_031737 VAR_031737 disease phenotype-associated VAR_031737 phenoCommon Ichthyosis congenital autosomal recessive ichthyin-related (ARCII) [MIM:612281] VAR_031738 commonName VAR_031738 VAR_031738 disease phenotype-associated VAR_031738 phenoCommon Ichthyosis congenital autosomal recessive ichthyin-related (ARCII) [MIM:612281] VAR_031739 commonName VAR_031739 VAR_031739 disease phenotype-associated VAR_031739 phenoCommon Ichthyosis congenital autosomal recessive ichthyin-related (ARCII) [MIM:612281] VAR_031740 commonName VAR_031740 VAR_031740 disease phenotype-associated VAR_031740 phenoCommon Ichthyosis congenital autosomal recessive ichthyin-related (ARCII) [MIM:612281] VAR_031741 commonName VAR_031741 VAR_031741 disease not phenotype-associated VAR_031742 commonName VAR_031742 VAR_031742 disease not phenotype-associated VAR_031743 commonName VAR_031743 VAR_031743 disease not phenotype-associated VAR_031744 commonName VAR_031744 VAR_031744 disease not phenotype-associated VAR_031745 commonName VAR_031745 VAR_031745 disease not phenotype-associated VAR_031746 commonName VAR_031746 VAR_031746 disease not phenotype-associated VAR_031747 commonName VAR_031747 VAR_031747 disease not phenotype-associated VAR_031748 commonName VAR_031748 VAR_031748 disease not phenotype-associated VAR_031749 commonName VAR_031749 VAR_031749 disease not phenotype-associated VAR_031750 commonName VAR_031750 VAR_031750 disease not phenotype-associated VAR_031751 commonName VAR_031751 VAR_031751 disease not phenotype-associated VAR_031752 commonName VAR_031752 VAR_031752 disease not phenotype-associated VAR_031753 commonName VAR_031753 VAR_031753 disease not phenotype-associated VAR_031754 commonName VAR_031754 VAR_031754 disease not phenotype-associated VAR_031755 commonName VAR_031755 VAR_031755 disease not phenotype-associated VAR_031756 commonName VAR_031756 VAR_031756 disease not phenotype-associated VAR_031757 commonName VAR_031757 VAR_031757 disease not phenotype-associated VAR_031758 commonName VAR_031758 VAR_031758 disease not phenotype-associated VAR_031759 commonName VAR_031759 VAR_031759 disease not phenotype-associated VAR_031760 commonName VAR_031760 VAR_031760 disease not phenotype-associated VAR_031761 commonName VAR_031761 VAR_031761 disease not phenotype-associated VAR_031762 commonName VAR_031762 VAR_031762 disease not phenotype-associated VAR_031763 commonName VAR_031763 VAR_031763 disease not phenotype-associated VAR_031764 commonName VAR_031764 VAR_031764 disease not phenotype-associated VAR_031765 commonName VAR_031765 VAR_031765 disease not phenotype-associated VAR_031766 commonName VAR_031766 VAR_031766 disease not phenotype-associated VAR_031767 commonName VAR_031767 VAR_031767 disease not phenotype-associated VAR_031768 commonName VAR_031768 VAR_031768 disease not phenotype-associated VAR_031769 commonName VAR_031769 VAR_031769 disease not phenotype-associated VAR_031770 commonName VAR_031770 VAR_031770 disease not phenotype-associated VAR_031771 commonName VAR_031771 VAR_031771 disease not phenotype-associated VAR_031772 commonName VAR_031772 VAR_031772 disease not phenotype-associated VAR_031773 commonName VAR_031773 VAR_031773 disease not phenotype-associated VAR_031774 commonName VAR_031774 VAR_031774 disease not phenotype-associated VAR_031775 commonName VAR_031775 VAR_031775 disease not phenotype-associated VAR_031776 commonName VAR_031776 VAR_031776 disease not phenotype-associated VAR_031777 commonName VAR_031777 VAR_031777 disease not phenotype-associated VAR_031778 commonName VAR_031778 VAR_031778 disease not phenotype-associated VAR_031779 commonName VAR_031779 VAR_031779 disease not phenotype-associated VAR_031780 commonName VAR_031780 VAR_031780 disease not phenotype-associated VAR_031781 commonName VAR_031781 VAR_031781 disease not phenotype-associated VAR_031782 commonName VAR_031782 VAR_031782 disease not phenotype-associated VAR_031783 commonName VAR_031783 VAR_031783 disease not phenotype-associated VAR_031784 commonName VAR_031784 VAR_031784 disease not phenotype-associated VAR_031785 commonName VAR_031785 VAR_031785 disease not phenotype-associated VAR_031787 commonName VAR_031787 VAR_031787 disease not phenotype-associated VAR_031788 commonName VAR_031788 VAR_031788 disease not phenotype-associated VAR_031790 commonName VAR_031790 VAR_031790 disease not phenotype-associated VAR_031791 commonName VAR_031791 VAR_031791 disease not phenotype-associated VAR_031792 commonName VAR_031792 VAR_031792 disease not phenotype-associated VAR_031793 commonName VAR_031793 VAR_031793 disease not phenotype-associated VAR_031794 commonName VAR_031794 VAR_031794 disease not phenotype-associated VAR_031795 commonName VAR_031795 VAR_031795 disease not phenotype-associated VAR_031796 commonName VAR_031796 VAR_031796 disease not phenotype-associated VAR_031797 commonName VAR_031797 VAR_031797 disease not phenotype-associated VAR_031798 commonName VAR_031798 VAR_031798 disease not phenotype-associated VAR_031799 commonName VAR_031799 VAR_031799 disease not phenotype-associated VAR_031800 commonName VAR_031800 VAR_031800 disease not phenotype-associated VAR_031801 commonName VAR_031801 VAR_031801 disease not phenotype-associated VAR_031802 commonName VAR_031802 VAR_031802 disease not phenotype-associated VAR_031803 commonName VAR_031803 VAR_031803 disease not phenotype-associated VAR_031805 commonName VAR_031805 VAR_031805 disease not phenotype-associated VAR_031806 commonName VAR_031806 VAR_031806 disease not phenotype-associated VAR_031807 commonName VAR_031807 VAR_031807 disease not phenotype-associated VAR_031808 commonName VAR_031808 VAR_031808 disease not phenotype-associated VAR_031809 commonName VAR_031809 VAR_031809 disease not phenotype-associated VAR_031811 commonName VAR_031811 VAR_031811 disease not phenotype-associated VAR_031812 commonName VAR_031812 VAR_031812 disease not phenotype-associated VAR_031813 commonName VAR_031813 VAR_031813 disease not phenotype-associated VAR_031814 commonName VAR_031814 VAR_031814 disease not phenotype-associated VAR_031815 commonName VAR_031815 VAR_031815 disease not phenotype-associated VAR_031816 commonName VAR_031816 VAR_031816 disease not phenotype-associated VAR_031817 commonName VAR_031817 VAR_031817 disease not phenotype-associated VAR_031818 commonName VAR_031818 VAR_031818 disease not phenotype-associated VAR_031819 commonName VAR_031819 VAR_031819 disease not phenotype-associated VAR_031820 commonName VAR_031820 VAR_031820 disease not phenotype-associated VAR_031821 commonName VAR_031821 VAR_031821 disease not phenotype-associated VAR_031822 commonName VAR_031822 VAR_031822 disease not phenotype-associated VAR_031823 commonName VAR_031823 VAR_031823 disease phenotype-associated VAR_031823 phenoCommon Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB) [MIM:249900] VAR_031824 commonName VAR_031824 VAR_031824 disease not phenotype-associated VAR_031825 commonName VAR_031825 VAR_031825 disease not phenotype-associated VAR_031826 commonName VAR_031826 VAR_031826 disease not phenotype-associated VAR_031827 commonName VAR_031827 VAR_031827 disease not phenotype-associated VAR_031828 commonName VAR_031828 VAR_031828 disease not phenotype-associated VAR_031829 commonName VAR_031829 VAR_031829 disease not phenotype-associated VAR_031830 commonName VAR_031830 VAR_031830 disease not phenotype-associated VAR_031831 commonName VAR_031831 VAR_031831 disease not phenotype-associated VAR_031832 commonName VAR_031832 VAR_031832 disease not phenotype-associated VAR_031833 commonName VAR_031833 VAR_031833 disease not phenotype-associated VAR_031834 commonName VAR_031834 VAR_031834 disease not phenotype-associated VAR_031835 commonName VAR_031835 VAR_031835 disease not phenotype-associated VAR_031841 commonName VAR_031841 VAR_031841 disease not phenotype-associated VAR_031842 commonName VAR_031842 VAR_031842 disease not phenotype-associated VAR_031843 commonName VAR_031843 VAR_031843 disease not phenotype-associated VAR_031844 commonName VAR_031844 VAR_031844 disease not phenotype-associated VAR_031845 commonName VAR_031845 VAR_031845 disease not phenotype-associated VAR_031846 commonName VAR_031846 VAR_031846 disease not phenotype-associated VAR_031847 commonName VAR_031847 VAR_031847 disease not phenotype-associated VAR_031848 commonName VAR_031848 VAR_031848 disease phenotype-associated VAR_031848 phenoCommon Deafness with labyrinthine aplasia, microtia and microdontia (LAMM) [MIM:610706] VAR_031849 commonName VAR_031849 VAR_031849 disease not phenotype-associated VAR_031850 commonName VAR_031850 VAR_031850 disease not phenotype-associated VAR_031852 commonName VAR_031852 VAR_031852 disease not phenotype-associated VAR_031853 commonName VAR_031853 VAR_031853 disease phenotype-associated VAR_031853 phenoCommon Familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100] VAR_031854 commonName VAR_031854 VAR_031854 disease not phenotype-associated VAR_031855 commonName VAR_031855 VAR_031855 disease not phenotype-associated VAR_031856 commonName VAR_031856 VAR_031856 disease not phenotype-associated VAR_031857 comment An ovarian cancer cell line VAR_031857 commonName VAR_031857 VAR_031858 comment A melanoma cell line VAR_031858 commonName VAR_031858 VAR_031859 comment A melanoma cell line VAR_031859 commonName VAR_031859 VAR_031860 commonName VAR_031860 VAR_031860 disease not phenotype-associated VAR_031866 commonName VAR_031866 VAR_031866 disease not phenotype-associated VAR_031867 commonName VAR_031867 VAR_031867 disease phenotype-associated VAR_031867 phenoCommon Hydrolethalus syndrome type 1 (HLS1) [MIM:236680] VAR_031869 commonName VAR_031869 VAR_031869 disease not phenotype-associated VAR_031870 commonName VAR_031870 VAR_031870 disease phenotype-associated VAR_031870 phenoCommon HIBCH deficiency (HIBCHD) [MIM:250620] VAR_031871 commonName VAR_031871 VAR_031871 disease not phenotype-associated VAR_031872 commonName VAR_031872 VAR_031873 commonName VAR_031873 VAR_031873 disease phenotype-associated VAR_031873 phenoCommon Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580] VAR_031874 commonName VAR_031874 VAR_031874 disease phenotype-associated VAR_031874 phenoCommon Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580] VAR_031875 commonName VAR_031875 VAR_031875 disease phenotype-associated VAR_031875 phenoCommon Albright hereditary osteodystrophy (AHO) [MIM:103580] VAR_031876 commonName VAR_031876 VAR_031876 disease phenotype-associated VAR_031876 phenoCommon Albright hereditary osteodystrophy (AHO) [MIM:103580] VAR_031877 commonName VAR_031877 VAR_031877 disease phenotype-associated VAR_031877 phenoCommon Albright hereditary osteodystrophy (AHO) [MIM:103580] VAR_031878 commonName VAR_031878 VAR_031878 disease phenotype-associated VAR_031878 phenoCommon Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580] VAR_031879 commonName VAR_031879 VAR_031879 disease phenotype-associated VAR_031879 phenoCommon Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580] VAR_031880 commonName VAR_031880 VAR_031880 disease phenotype-associated VAR_031880 phenoCommon Progressive osseous heteroplasia (POH) [MIM:166350] VAR_031882 commonName VAR_031882 VAR_031882 disease phenotype-associated VAR_031882 phenoCommon Familial hypertrophic cardiomyopathy type 14 (CMH14) [MIM:613251] VAR_031883 commonName VAR_031883 VAR_031883 disease phenotype-associated VAR_031883 phenoCommon Atrial septal defect type 3 (ASD3) [MIM:614089] VAR_031885 commonName VAR_031885 VAR_031886 commonName VAR_031886 VAR_031886 disease phenotype-associated VAR_031886 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_031887 commonName VAR_031887 VAR_031887 disease phenotype-associated VAR_031887 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_031888 commonName VAR_031888 VAR_031889 commonName VAR_031889 VAR_031889 disease phenotype-associated VAR_031889 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_031890 commonName VAR_031890 VAR_031891 commonName VAR_031891 VAR_031892 commonName VAR_031892 VAR_031892 disease phenotype-associated VAR_031892 phenoCommon Dejerine-Sottas syndrome (DSS) [MIM:145900] VAR_031899 commonName VAR_031899 VAR_031899 disease phenotype-associated VAR_031899 phenoCommon Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB) [MIM:249900] VAR_031900 commonName VAR_031900 VAR_031900 disease not phenotype-associated VAR_031901 commonName VAR_031901 VAR_031901 disease phenotype-associated VAR_031901 phenoCommon Combined oxidative phosphorylation deficiency type 1 (COXPD1) [MIM:609060] VAR_031902 commonName VAR_031902 VAR_031902 disease phenotype-associated VAR_031902 phenoCommon Combined oxidative phosphorylation deficiency type 4 (COXPD4) [MIM:610678] VAR_031903 commonName VAR_031903 VAR_031903 disease not phenotype-associated VAR_031904 commonName VAR_031904 VAR_031904 disease not phenotype-associated VAR_031905 commonName VAR_031905 VAR_031905 disease not phenotype-associated VAR_031906 commonName VAR_031906 VAR_031906 disease not phenotype-associated VAR_031907 commonName VAR_031907 VAR_031907 disease phenotype-associated VAR_031907 phenoCommon Age-related macular degeneration type 6 (ARMD6) [MIM:613757] VAR_031908 commonName VAR_031908 VAR_031908 disease phenotype-associated VAR_031908 phenoCommon Cone-rod dystrophy type 11 (CORD11) [MIM:610381] VAR_031910 commonName VAR_031910 VAR_031910 disease not phenotype-associated VAR_031911 commonName VAR_031911 VAR_031911 disease phenotype-associated VAR_031911 phenoCommon Tn syndrome (TNSYN) [MIM:300622] VAR_031912 commonName VAR_031912 VAR_031912 disease not phenotype-associated VAR_031913 commonName VAR_031913 VAR_031913 disease not phenotype-associated VAR_031914 commonName VAR_031914 VAR_031914 disease not phenotype-associated VAR_031915 commonName VAR_031915 VAR_031915 disease not phenotype-associated VAR_031916 commonName VAR_031916 VAR_031916 disease not phenotype-associated VAR_031917 commonName VAR_031917 VAR_031918 commonName VAR_031918 VAR_031918 disease not phenotype-associated VAR_031919 commonName VAR_031919 VAR_031919 disease not phenotype-associated VAR_031920 commonName VAR_031920 VAR_031920 disease not phenotype-associated VAR_031921 commonName VAR_031921 VAR_031921 disease not phenotype-associated VAR_031922 commonName VAR_031922 VAR_031922 disease not phenotype-associated VAR_031923 commonName VAR_031923 VAR_031923 disease not phenotype-associated VAR_031924 commonName VAR_031924 VAR_031924 disease not phenotype-associated VAR_031925 commonName VAR_031925 VAR_031925 disease not phenotype-associated VAR_031926 commonName VAR_031926 VAR_031926 disease not phenotype-associated VAR_031927 commonName VAR_031927 VAR_031927 disease not phenotype-associated VAR_031928 commonName VAR_031928 VAR_031928 disease not phenotype-associated VAR_031929 commonName VAR_031929 VAR_031929 disease not phenotype-associated VAR_031930 commonName VAR_031930 VAR_031930 disease not phenotype-associated VAR_031931 commonName VAR_031931 VAR_031931 disease not phenotype-associated VAR_031932 commonName VAR_031932 VAR_031932 disease not phenotype-associated VAR_031933 commonName VAR_031933 VAR_031934 commonName VAR_031934 VAR_031935 commonName VAR_031935 VAR_031935 disease not phenotype-associated VAR_031936 commonName VAR_031936 VAR_031936 disease not phenotype-associated VAR_031937 commonName VAR_031937 VAR_031938 commonName VAR_031938 VAR_031938 disease not phenotype-associated VAR_031939 commonName VAR_031939 VAR_031939 disease not phenotype-associated VAR_031940 commonName VAR_031940 VAR_031941 commonName VAR_031941 VAR_031941 disease not phenotype-associated VAR_031942 commonName VAR_031942 VAR_031942 disease not phenotype-associated VAR_031943 commonName VAR_031943 VAR_031943 disease not phenotype-associated VAR_031944 commonName VAR_031944 VAR_031945 commonName VAR_031945 VAR_031945 disease not phenotype-associated VAR_031946 commonName VAR_031946 VAR_031946 disease not phenotype-associated VAR_031947 commonName VAR_031947 VAR_031947 disease not phenotype-associated VAR_031948 commonName VAR_031948 VAR_031948 disease not phenotype-associated VAR_031949 commonName VAR_031949 VAR_031949 disease not phenotype-associated VAR_031950 commonName VAR_031950 VAR_031950 disease not phenotype-associated VAR_031951 commonName VAR_031951 VAR_031951 disease not phenotype-associated VAR_031952 commonName VAR_031952 VAR_031952 disease phenotype-associated VAR_031952 phenoCommon Feingold syndrome type 1 (FGLDS1) [MIM:164280] VAR_031953 commonName VAR_031953 VAR_031953 disease phenotype-associated VAR_031953 phenoCommon Feingold syndrome type 1 (FGLDS1) [MIM:164280] VAR_031954 commonName VAR_031954 VAR_031954 disease phenotype-associated VAR_031954 phenoCommon Feingold syndrome type 1 (FGLDS1) [MIM:164280] VAR_031955 commonName VAR_031955 VAR_031955 disease phenotype-associated VAR_031955 phenoCommon Spastic paraplegia autosomal dominant type 8 (SPG8) [MIM:603563] VAR_031956 commonName VAR_031956 VAR_031956 disease phenotype-associated VAR_031956 phenoCommon Spastic paraplegia autosomal dominant type 8 (SPG8) [MIM:603563] VAR_031957 commonName VAR_031957 VAR_031957 disease phenotype-associated VAR_031957 phenoCommon Spastic paraplegia autosomal dominant type 8 (SPG8) [MIM:603563] VAR_031958 commonName VAR_031958 VAR_031958 disease phenotype-associated VAR_031958 phenoCommon Recurrent isolated invasive pneumococcal disease type 2 (IPD2) [MIM:300640] VAR_031959 commonName VAR_031959 VAR_031959 disease phenotype-associated VAR_031959 phenoCommon X-linked familial atypical micobacteriosis type 1 (AMCBX1) [MIM:300636] VAR_031960 commonName VAR_031960 VAR_031960 disease phenotype-associated VAR_031960 phenoCommon X-linked familial atypical micobacteriosis type 1 (AMCBX1) [MIM:300636] VAR_031961 commonName VAR_031961 VAR_031961 disease not phenotype-associated VAR_031962 commonName VAR_031962 VAR_031962 disease phenotype-associated VAR_031962 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150] VAR_031963 commonName VAR_031963 VAR_031963 disease phenotype-associated VAR_031963 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150] VAR_031964 commonName VAR_031964 VAR_031964 disease phenotype-associated VAR_031964 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150] VAR_031965 commonName VAR_031965 VAR_031965 disease phenotype-associated VAR_031965 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150] VAR_031967 commonName VAR_031967 VAR_031967 disease phenotype-associated VAR_031967 phenoCommon Charcot-Marie-Tooth disease dominant intermediate type B (CMTDIB) [MIM:606482] VAR_031968 commonName VAR_031968 VAR_031968 disease phenotype-associated VAR_031968 phenoCommon Pierson syndrome (PIERSS) [MIM:609049] VAR_031969 commonName VAR_031969 VAR_031969 disease phenotype-associated VAR_031969 phenoCommon Pierson syndrome (PIERSS) [MIM:609049] VAR_031970 commonName VAR_031970 VAR_031970 disease phenotype-associated VAR_031970 phenoCommon Pierson syndrome (PIERSS) [MIM:609049] VAR_031971 commonName VAR_031971 VAR_031971 disease not phenotype-associated VAR_031974 commonName VAR_031974 VAR_031974 disease not phenotype-associated VAR_031975 commonName VAR_031975 VAR_031975 disease not phenotype-associated VAR_031976 commonName VAR_031976 VAR_031976 disease not phenotype-associated VAR_031977 commonName VAR_031977 VAR_031977 disease not phenotype-associated VAR_031978 commonName VAR_031978 VAR_031978 disease phenotype-associated VAR_031978 phenoCommon Complement factor H deficiency (CFHD) [MIM:609814] VAR_031980 commonName VAR_031980 VAR_031980 disease phenotype-associated VAR_031980 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] VAR_031981 commonName VAR_031981 VAR_031981 disease phenotype-associated VAR_031981 phenoCommon Complement factor H deficiency (CFHD) [MIM:609814] VAR_031982 commonName VAR_031982 VAR_031982 disease phenotype-associated VAR_031982 phenoCommon Complement factor H deficiency (CFHD) [MIM:609814] VAR_031983 commonName VAR_031983 VAR_031983 disease phenotype-associated VAR_031983 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] VAR_031984 commonName VAR_031984 VAR_031984 disease phenotype-associated VAR_031984 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] VAR_031985 commonName VAR_031985 VAR_031985 disease phenotype-associated VAR_031985 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] VAR_031986 commonName VAR_031986 VAR_031986 disease phenotype-associated VAR_031986 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] VAR_031987 commonName VAR_031987 VAR_031987 disease phenotype-associated VAR_031987 phenoCommon COACH syndrome (COACHS) [MIM:216360] VAR_031987 phenoCommon Joubert syndrome type 6 (JBTS6) [MIM:610688] VAR_031987 phenoCommon Meckel syndrome type 3 (MKS3) [MIM:607361] VAR_031988 commonName VAR_031988 VAR_031988 disease phenotype-associated VAR_031988 phenoCommon Joubert syndrome type 6 (JBTS6) [MIM:610688] VAR_031989 commonName VAR_031989 VAR_031989 disease phenotype-associated VAR_031989 phenoCommon Nemaline myopathy type 7 (NEM7) [MIM:610687] VAR_031990 commonName VAR_031990 VAR_031990 disease not phenotype-associated VAR_031991 commonName VAR_031991 VAR_031991 disease not phenotype-associated VAR_031992 commonName VAR_031992 VAR_031992 disease not phenotype-associated VAR_031993 commonName VAR_031993 VAR_031993 disease not phenotype-associated VAR_031994 commonName VAR_031994 VAR_031994 disease not phenotype-associated VAR_031995 commonName VAR_031995 VAR_031995 disease not phenotype-associated VAR_031996 commonName VAR_031996 VAR_031996 disease not phenotype-associated VAR_031997 commonName VAR_031997 VAR_031997 disease not phenotype-associated VAR_031998 commonName VAR_031998 VAR_031998 disease not phenotype-associated VAR_031999 commonName VAR_031999 VAR_031999 disease not phenotype-associated VAR_032008 commonName VAR_032008 VAR_032008 disease not phenotype-associated VAR_032009 commonName VAR_032009 VAR_032009 disease not phenotype-associated VAR_032010 commonName VAR_032010 VAR_032010 disease not phenotype-associated VAR_032011 commonName VAR_032011 VAR_032011 disease phenotype-associated VAR_032011 phenoCommon Pancreatitis (PCTT) [MIM:167800] VAR_032012 commonName VAR_032012 VAR_032012 disease not phenotype-associated VAR_032024 commonName VAR_032024 VAR_032024 disease not phenotype-associated VAR_032025 commonName VAR_032025 VAR_032025 disease not phenotype-associated VAR_032026 commonName VAR_032026 VAR_032026 disease not phenotype-associated VAR_032027 commonName VAR_032027 VAR_032027 disease not phenotype-associated VAR_032028 commonName VAR_032028 VAR_032028 disease not phenotype-associated VAR_032030 commonName VAR_032030 VAR_032030 disease not phenotype-associated VAR_032031 commonName VAR_032031 VAR_032031 disease not phenotype-associated VAR_032032 commonName VAR_032032 VAR_032032 disease not phenotype-associated VAR_032033 commonName VAR_032033 VAR_032033 disease not phenotype-associated VAR_032034 commonName VAR_032034 VAR_032034 disease not phenotype-associated VAR_032035 commonName VAR_032035 VAR_032035 disease not phenotype-associated VAR_032036 commonName VAR_032036 VAR_032036 disease not phenotype-associated VAR_032037 commonName VAR_032037 VAR_032037 disease not phenotype-associated VAR_032038 commonName VAR_032038 VAR_032038 disease not phenotype-associated VAR_032039 commonName VAR_032039 VAR_032039 disease not phenotype-associated VAR_032040 commonName VAR_032040 VAR_032040 disease not phenotype-associated VAR_032041 commonName VAR_032041 VAR_032041 disease not phenotype-associated VAR_032042 commonName VAR_032042 VAR_032042 disease not phenotype-associated VAR_032043 commonName VAR_032043 VAR_032043 disease not phenotype-associated VAR_032044 commonName VAR_032044 VAR_032044 disease not phenotype-associated VAR_032045 commonName VAR_032045 VAR_032045 disease not phenotype-associated VAR_032046 commonName VAR_032046 VAR_032046 disease not phenotype-associated VAR_032047 commonName VAR_032047 VAR_032047 disease not phenotype-associated VAR_032048 commonName VAR_032048 VAR_032048 disease not phenotype-associated VAR_032049 commonName VAR_032049 VAR_032049 disease not phenotype-associated VAR_032050 commonName VAR_032050 VAR_032050 disease not phenotype-associated VAR_032051 commonName VAR_032051 VAR_032051 disease not phenotype-associated VAR_032052 commonName VAR_032052 VAR_032052 disease phenotype-associated VAR_032052 phenoCommon Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150] VAR_032054 commonName VAR_032054 VAR_032054 disease phenotype-associated VAR_032054 phenoCommon Choroidal dystrophy central areolar type 2 (CACD2) [MIM:613105] VAR_032055 commonName VAR_032055 VAR_032055 disease phenotype-associated VAR_032055 phenoCommon Deafness autosomal recessive type 67 (DFNB67) [MIM:610265] VAR_032056 commonName VAR_032056 VAR_032056 disease phenotype-associated VAR_032056 phenoCommon Deafness autosomal recessive type 67 (DFNB67) [MIM:610265] VAR_032057 commonName VAR_032057 VAR_032057 disease phenotype-associated VAR_032057 phenoCommon Deafness autosomal recessive type 67 (DFNB67) [MIM:610265] VAR_032058 commonName VAR_032058 VAR_032058 disease not phenotype-associated VAR_032059 commonName VAR_032059 VAR_032059 disease not phenotype-associated VAR_032060 commonName VAR_032060 VAR_032060 disease not phenotype-associated VAR_032061 commonName VAR_032061 VAR_032061 disease not phenotype-associated VAR_032062 commonName VAR_032062 VAR_032062 disease not phenotype-associated VAR_032063 commonName VAR_032063 VAR_032063 disease not phenotype-associated VAR_032064 commonName VAR_032064 VAR_032064 disease not phenotype-associated VAR_032066 commonName VAR_032066 VAR_032066 disease not phenotype-associated VAR_032068 commonName VAR_032068 VAR_032068 disease not phenotype-associated VAR_032069 commonName VAR_032069 VAR_032069 disease not phenotype-associated VAR_032070 commonName VAR_032070 VAR_032070 disease not phenotype-associated VAR_032071 commonName VAR_032071 VAR_032071 disease not phenotype-associated VAR_032072 commonName VAR_032072 VAR_032072 disease not phenotype-associated VAR_032073 commonName VAR_032073 VAR_032073 disease not phenotype-associated VAR_032074 commonName VAR_032074 VAR_032074 disease not phenotype-associated VAR_032075 commonName VAR_032075 VAR_032075 disease not phenotype-associated VAR_032076 commonName VAR_032076 VAR_032076 disease not phenotype-associated VAR_032077 commonName VAR_032077 VAR_032077 disease not phenotype-associated VAR_032078 commonName VAR_032078 VAR_032078 disease not phenotype-associated VAR_032079 commonName VAR_032079 VAR_032079 disease not phenotype-associated VAR_032080 commonName VAR_032080 VAR_032080 disease not phenotype-associated VAR_032081 commonName VAR_032081 VAR_032081 disease not phenotype-associated VAR_032082 commonName VAR_032082 VAR_032082 disease not phenotype-associated VAR_032083 commonName VAR_032083 VAR_032083 disease not phenotype-associated VAR_032084 commonName VAR_032084 VAR_032084 disease not phenotype-associated VAR_032085 commonName VAR_032085 VAR_032085 disease not phenotype-associated VAR_032086 commonName VAR_032086 VAR_032086 disease phenotype-associated VAR_032086 phenoCommon Bjoernstad syndrome (BJS) [MIM:262000] VAR_032087 commonName VAR_032087 VAR_032087 disease phenotype-associated VAR_032087 phenoCommon Mitochondrial complex III deficiency (MT-C3D) [MIM:124000] VAR_032088 commonName VAR_032088 VAR_032088 disease phenotype-associated VAR_032088 phenoCommon Bjoernstad syndrome (BJS) [MIM:262000] VAR_032089 commonName VAR_032089 VAR_032089 disease phenotype-associated VAR_032089 phenoCommon Bjoernstad syndrome (BJS) [MIM:262000] VAR_032090 commonName VAR_032090 VAR_032090 disease phenotype-associated VAR_032090 phenoCommon Bjoernstad syndrome (BJS) [MIM:262000] VAR_032090 phenoCommon Mitochondrial complex III deficiency (MT-C3D) [MIM:124000] VAR_032091 commonName VAR_032091 VAR_032091 disease phenotype-associated VAR_032091 phenoCommon Bjoernstad syndrome (BJS) [MIM:262000] VAR_032092 commonName VAR_032092 VAR_032092 disease phenotype-associated VAR_032092 phenoCommon Bjoernstad syndrome (BJS) [MIM:262000] VAR_032093 commonName VAR_032093 VAR_032093 disease phenotype-associated VAR_032093 phenoCommon 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438] VAR_032094 commonName VAR_032094 VAR_032094 disease not phenotype-associated VAR_032095 commonName VAR_032095 VAR_032095 disease not phenotype-associated VAR_032096 commonName VAR_032096 VAR_032096 disease not phenotype-associated VAR_032097 commonName VAR_032097 VAR_032097 disease not phenotype-associated VAR_032098 commonName VAR_032098 VAR_032098 disease not phenotype-associated VAR_032099 commonName VAR_032099 VAR_032099 disease not phenotype-associated VAR_032100 commonName VAR_032100 VAR_032100 disease not phenotype-associated VAR_032102 comment A lung adenocarcinoma patient VAR_032102 commonName VAR_032102 VAR_032103 commonName VAR_032103 VAR_032104 comment A lung adenocarcinoma patient VAR_032104 commonName VAR_032104 VAR_032105 commonName VAR_032105 VAR_032106 commonName VAR_032106 VAR_032106 disease not phenotype-associated VAR_032107 commonName VAR_032107 VAR_032108 comment A lung adenocarcinoma cell line VAR_032108 commonName VAR_032108 VAR_032109 comment A lung adenocarcinoma patient VAR_032109 commonName VAR_032109 VAR_032110 commonName VAR_032110 VAR_032110 disease not phenotype-associated VAR_032111 commonName VAR_032111 VAR_032111 disease not phenotype-associated VAR_032112 commonName VAR_032112 VAR_032112 disease not phenotype-associated VAR_032113 commonName VAR_032113 VAR_032113 disease phenotype-associated VAR_032113 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220] VAR_032114 commonName VAR_032114 VAR_032114 disease not phenotype-associated VAR_032118 commonName VAR_032118 VAR_032118 disease not phenotype-associated VAR_032119 commonName VAR_032119 VAR_032119 disease not phenotype-associated VAR_032120 commonName VAR_032120 VAR_032120 disease not phenotype-associated VAR_032121 commonName VAR_032121 VAR_032121 disease not phenotype-associated VAR_032122 commonName VAR_032122 VAR_032122 disease not phenotype-associated VAR_032123 commonName VAR_032123 VAR_032123 disease not phenotype-associated VAR_032124 commonName VAR_032124 VAR_032124 disease not phenotype-associated VAR_032125 commonName VAR_032125 VAR_032125 disease not phenotype-associated VAR_032127 commonName VAR_032127 VAR_032127 disease not phenotype-associated VAR_032129 commonName VAR_032129 VAR_032129 disease not phenotype-associated VAR_032130 commonName VAR_032130 VAR_032130 disease not phenotype-associated VAR_032131 commonName VAR_032131 VAR_032131 disease not phenotype-associated VAR_032132 commonName VAR_032132 VAR_032132 disease not phenotype-associated VAR_032133 commonName VAR_032133 VAR_032133 disease not phenotype-associated VAR_032134 commonName VAR_032134 VAR_032134 disease not phenotype-associated VAR_032135 commonName VAR_032135 VAR_032135 disease not phenotype-associated VAR_032136 commonName VAR_032136 VAR_032136 disease not phenotype-associated VAR_032137 commonName VAR_032137 VAR_032137 disease not phenotype-associated VAR_032138 commonName VAR_032138 VAR_032138 disease not phenotype-associated VAR_032139 commonName VAR_032139 VAR_032139 disease not phenotype-associated VAR_032141 commonName VAR_032141 VAR_032141 disease not phenotype-associated VAR_032142 commonName VAR_032142 VAR_032142 disease not phenotype-associated VAR_032143 commonName VAR_032143 VAR_032143 disease not phenotype-associated VAR_032144 commonName VAR_032144 VAR_032144 disease not phenotype-associated VAR_032145 commonName VAR_032145 VAR_032145 disease not phenotype-associated VAR_032146 commonName VAR_032146 VAR_032146 disease not phenotype-associated VAR_032147 commonName VAR_032147 VAR_032147 disease not phenotype-associated VAR_032148 commonName VAR_032148 VAR_032148 disease not phenotype-associated VAR_032149 commonName VAR_032149 VAR_032149 disease not phenotype-associated VAR_032150 commonName VAR_032150 VAR_032150 disease not phenotype-associated VAR_032151 commonName VAR_032151 VAR_032151 disease not phenotype-associated VAR_032154 commonName VAR_032154 VAR_032154 disease not phenotype-associated VAR_032155 commonName VAR_032155 VAR_032155 disease not phenotype-associated VAR_032156 commonName VAR_032156 VAR_032156 disease not phenotype-associated VAR_032157 commonName VAR_032157 VAR_032157 disease not phenotype-associated VAR_032158 commonName VAR_032158 VAR_032158 disease not phenotype-associated VAR_032159 commonName VAR_032159 VAR_032159 disease not phenotype-associated VAR_032160 commonName VAR_032160 VAR_032160 disease not phenotype-associated VAR_032161 commonName VAR_032161 VAR_032161 disease not phenotype-associated VAR_032162 commonName VAR_032162 VAR_032162 disease not phenotype-associated VAR_032163 commonName VAR_032163 VAR_032163 disease not phenotype-associated VAR_032164 commonName VAR_032164 VAR_032164 disease not phenotype-associated VAR_032165 commonName VAR_032165 VAR_032165 disease not phenotype-associated VAR_032166 commonName VAR_032166 VAR_032166 disease not phenotype-associated VAR_032167 commonName VAR_032167 VAR_032167 disease not phenotype-associated VAR_032168 commonName VAR_032168 VAR_032168 disease not phenotype-associated VAR_032169 commonName VAR_032169 VAR_032169 disease not phenotype-associated VAR_032171 commonName VAR_032171 VAR_032171 disease not phenotype-associated VAR_032172 commonName VAR_032172 VAR_032172 disease not phenotype-associated VAR_032173 commonName VAR_032173 VAR_032173 disease not phenotype-associated VAR_032174 commonName VAR_032174 VAR_032174 disease not phenotype-associated VAR_032175 commonName VAR_032175 VAR_032175 disease not phenotype-associated VAR_032176 commonName VAR_032176 VAR_032176 disease not phenotype-associated VAR_032177 commonName VAR_032177 VAR_032177 disease not phenotype-associated VAR_032178 commonName VAR_032178 VAR_032178 disease not phenotype-associated VAR_032179 commonName VAR_032179 VAR_032179 disease not phenotype-associated VAR_032180 commonName VAR_032180 VAR_032180 disease not phenotype-associated VAR_032181 commonName VAR_032181 VAR_032181 disease not phenotype-associated VAR_032182 commonName VAR_032182 VAR_032182 disease not phenotype-associated VAR_032183 commonName VAR_032183 VAR_032183 disease not phenotype-associated VAR_032184 commonName VAR_032184 VAR_032184 disease not phenotype-associated VAR_032185 commonName VAR_032185 VAR_032185 disease not phenotype-associated VAR_032186 commonName VAR_032186 VAR_032186 disease not phenotype-associated VAR_032187 commonName VAR_032187 VAR_032187 disease not phenotype-associated VAR_032188 commonName VAR_032188 VAR_032188 disease not phenotype-associated VAR_032189 commonName VAR_032189 VAR_032189 disease not phenotype-associated VAR_032190 commonName VAR_032190 VAR_032190 disease not phenotype-associated VAR_032191 commonName VAR_032191 VAR_032191 disease not phenotype-associated VAR_032192 commonName VAR_032192 VAR_032192 disease not phenotype-associated VAR_032193 commonName VAR_032193 VAR_032193 disease not phenotype-associated VAR_032194 commonName VAR_032194 VAR_032194 disease not phenotype-associated VAR_032195 comment A melanoma patient VAR_032195 commonName VAR_032195 VAR_032196 commonName VAR_032196 VAR_032196 disease not phenotype-associated VAR_032197 commonName VAR_032197 VAR_032197 disease phenotype-associated VAR_032197 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_032198 commonName VAR_032198 VAR_032198 disease phenotype-associated VAR_032198 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_032199 commonName VAR_032199 VAR_032199 disease phenotype-associated VAR_032199 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_032200 commonName VAR_032200 VAR_032200 disease phenotype-associated VAR_032200 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_032201 commonName VAR_032201 VAR_032201 disease phenotype-associated VAR_032201 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_032202 commonName VAR_032202 VAR_032202 disease phenotype-associated VAR_032202 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_032203 commonName VAR_032203 VAR_032203 disease phenotype-associated VAR_032203 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_032204 commonName VAR_032204 VAR_032204 disease phenotype-associated VAR_032204 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_032205 commonName VAR_032205 VAR_032205 disease phenotype-associated VAR_032205 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_032206 commonName VAR_032206 VAR_032206 disease phenotype-associated VAR_032206 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_032207 commonName VAR_032207 VAR_032207 disease phenotype-associated VAR_032207 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_032208 commonName VAR_032208 VAR_032208 disease phenotype-associated VAR_032208 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_032209 commonName VAR_032209 VAR_032209 disease phenotype-associated VAR_032209 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_032210 commonName VAR_032210 VAR_032210 disease phenotype-associated VAR_032210 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_032211 commonName VAR_032211 VAR_032211 disease phenotype-associated VAR_032211 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_032212 commonName VAR_032212 VAR_032212 disease phenotype-associated VAR_032212 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_032213 commonName VAR_032213 VAR_032213 disease phenotype-associated VAR_032213 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_032214 commonName VAR_032214 VAR_032214 disease phenotype-associated VAR_032214 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_032218 commonName VAR_032218 VAR_032218 disease not phenotype-associated VAR_032219 commonName VAR_032219 VAR_032219 disease not phenotype-associated VAR_032220 commonName VAR_032220 VAR_032220 disease not phenotype-associated VAR_032221 commonName VAR_032221 VAR_032221 disease not phenotype-associated VAR_032222 commonName VAR_032222 VAR_032222 disease not phenotype-associated VAR_032223 commonName VAR_032223 VAR_032223 disease not phenotype-associated VAR_032225 commonName VAR_032225 VAR_032225 disease not phenotype-associated VAR_032226 commonName VAR_032226 VAR_032226 disease not phenotype-associated VAR_032227 commonName VAR_032227 VAR_032227 disease not phenotype-associated VAR_032228 commonName VAR_032228 VAR_032228 disease phenotype-associated VAR_032228 phenoCommon Deafness autosomal recessive type 9 (DFNB9) [MIM:601071] VAR_032229 commonName VAR_032229 VAR_032229 disease phenotype-associated VAR_032229 phenoCommon Auditory neuropathy, autosomal recessive, type 1 (AUNB1) [MIM:601071] VAR_032229 phenoCommon Deafness autosomal recessive type 9 (DFNB9) [MIM:601071] VAR_032230 commonName VAR_032230 VAR_032230 disease not phenotype-associated VAR_032231 commonName VAR_032231 VAR_032231 disease not phenotype-associated VAR_032232 commonName VAR_032232 VAR_032232 disease phenotype-associated VAR_032232 phenoCommon Deafness autosomal recessive type 9 (DFNB9) [MIM:601071] VAR_032233 commonName VAR_032233 VAR_032233 disease phenotype-associated VAR_032233 phenoCommon Deafness autosomal recessive type 9 (DFNB9) [MIM:601071] VAR_032234 commonName VAR_032234 VAR_032234 disease phenotype-associated VAR_032234 phenoCommon Auditory neuropathy, autosomal recessive, type 1 (AUNB1) [MIM:601071] VAR_032234 phenoCommon Deafness autosomal recessive type 9 (DFNB9) [MIM:601071] VAR_032235 commonName VAR_032235 VAR_032235 disease not phenotype-associated VAR_032236 commonName VAR_032236 VAR_032236 disease not phenotype-associated VAR_032237 commonName VAR_032237 VAR_032237 disease not phenotype-associated VAR_032238 commonName VAR_032238 VAR_032238 disease not phenotype-associated VAR_032239 commonName VAR_032239 VAR_032239 disease phenotype-associated VAR_032239 phenoCommon Deafness autosomal recessive type 9 (DFNB9) [MIM:601071] VAR_032240 commonName VAR_032240 VAR_032240 disease not phenotype-associated VAR_032241 commonName VAR_032241 VAR_032241 disease phenotype-associated VAR_032241 phenoCommon Auditory neuropathy, autosomal recessive, type 1 (AUNB1) [MIM:601071] VAR_032242 commonName VAR_032242 VAR_032242 disease phenotype-associated VAR_032242 phenoCommon Auditory neuropathy, autosomal recessive, type 1 (AUNB1) [MIM:601071] VAR_032243 commonName VAR_032243 VAR_032243 disease not phenotype-associated VAR_032244 commonName VAR_032244 VAR_032244 disease not phenotype-associated VAR_032245 commonName VAR_032245 VAR_032245 disease not phenotype-associated VAR_032246 commonName VAR_032246 VAR_032246 disease not phenotype-associated VAR_032247 commonName VAR_032247 VAR_032247 disease not phenotype-associated VAR_032248 commonName VAR_032248 VAR_032248 disease not phenotype-associated VAR_032249 commonName VAR_032249 VAR_032249 disease not phenotype-associated VAR_032250 commonName VAR_032250 VAR_032250 disease not phenotype-associated VAR_032251 commonName VAR_032251 VAR_032252 commonName VAR_032252 VAR_032252 disease not phenotype-associated VAR_032253 commonName VAR_032253 VAR_032253 disease not phenotype-associated VAR_032254 commonName VAR_032254 VAR_032254 disease not phenotype-associated VAR_032255 commonName VAR_032255 VAR_032255 disease not phenotype-associated VAR_032256 commonName VAR_032256 VAR_032256 disease not phenotype-associated VAR_032259 commonName VAR_032259 VAR_032259 disease not phenotype-associated VAR_032260 commonName VAR_032260 VAR_032260 disease not phenotype-associated VAR_032261 commonName VAR_032261 VAR_032261 disease not phenotype-associated VAR_032262 commonName VAR_032262 VAR_032262 disease not phenotype-associated VAR_032263 commonName VAR_032263 VAR_032263 disease not phenotype-associated VAR_032264 commonName VAR_032264 VAR_032264 disease not phenotype-associated VAR_032265 commonName VAR_032265 VAR_032265 disease not phenotype-associated VAR_032266 commonName VAR_032266 VAR_032266 disease not phenotype-associated VAR_032268 commonName VAR_032268 VAR_032268 disease not phenotype-associated VAR_032269 commonName VAR_032269 VAR_032269 disease not phenotype-associated VAR_032270 commonName VAR_032270 VAR_032270 disease not phenotype-associated VAR_032271 commonName VAR_032271 VAR_032271 disease not phenotype-associated VAR_032272 commonName VAR_032272 VAR_032272 disease not phenotype-associated VAR_032273 commonName VAR_032273 VAR_032273 disease phenotype-associated VAR_032273 phenoCommon Mental retardation syndromic X-linked Cabezas type (MRXC) [MIM:300354] VAR_032274 commonName VAR_032274 VAR_032274 disease phenotype-associated VAR_032274 phenoCommon Mental retardation syndromic X-linked Cabezas type (MRXC) [MIM:300354] VAR_032276 commonName VAR_032276 VAR_032276 disease phenotype-associated VAR_032276 phenoCommon Cerebral amyloid angiopathy APP-related (CAA-APP) [MIM:605714] VAR_032277 commonName VAR_032277 VAR_032277 disease phenotype-associated VAR_032277 phenoCommon Alzheimer disease type 1 (AD1) [MIM:104300] VAR_032278 commonName VAR_032278 VAR_032278 disease not phenotype-associated VAR_032279 commonName VAR_032279 VAR_032279 disease not phenotype-associated VAR_032281 commonName VAR_032281 VAR_032281 disease not phenotype-associated VAR_032282 commonName VAR_032282 VAR_032282 disease not phenotype-associated VAR_032283 commonName VAR_032283 VAR_032283 disease not phenotype-associated VAR_032285 commonName VAR_032285 VAR_032285 disease not phenotype-associated VAR_032286 commonName VAR_032286 VAR_032286 disease not phenotype-associated VAR_032287 commonName VAR_032287 VAR_032287 disease not phenotype-associated VAR_032288 commonName VAR_032288 VAR_032288 disease not phenotype-associated VAR_032289 commonName VAR_032289 VAR_032289 disease not phenotype-associated VAR_032290 commonName VAR_032290 VAR_032290 disease phenotype-associated VAR_032290 phenoCommon Fabry disease (FD) [MIM:301500] VAR_032291 commonName VAR_032291 VAR_032291 disease phenotype-associated VAR_032291 phenoCommon Fabry disease (FD) [MIM:301500] VAR_032292 commonName VAR_032292 VAR_032292 disease phenotype-associated VAR_032292 phenoCommon Fabry disease (FD) [MIM:301500] VAR_032293 commonName VAR_032293 VAR_032293 disease phenotype-associated VAR_032293 phenoCommon Fabry disease (FD) [MIM:301500] VAR_032294 commonName VAR_032294 VAR_032294 disease not phenotype-associated VAR_032295 commonName VAR_032295 VAR_032295 disease not phenotype-associated VAR_032296 commonName VAR_032296 VAR_032296 disease not phenotype-associated VAR_032297 commonName VAR_032297 VAR_032297 disease not phenotype-associated VAR_032298 commonName VAR_032298 VAR_032298 disease not phenotype-associated VAR_032299 commonName VAR_032299 VAR_032299 disease not phenotype-associated VAR_032300 commonName VAR_032300 VAR_032300 disease not phenotype-associated VAR_032303 commonName VAR_032303 VAR_032303 disease not phenotype-associated VAR_032304 commonName VAR_032304 VAR_032304 disease not phenotype-associated VAR_032305 commonName VAR_032305 VAR_032305 disease not phenotype-associated VAR_032306 commonName VAR_032306 VAR_032306 disease not phenotype-associated VAR_032307 commonName VAR_032307 VAR_032307 disease not phenotype-associated VAR_032308 commonName VAR_032308 VAR_032308 disease not phenotype-associated VAR_032309 commonName VAR_032309 VAR_032309 disease not phenotype-associated VAR_032310 commonName VAR_032310 VAR_032310 disease not phenotype-associated VAR_032311 commonName VAR_032311 VAR_032311 disease not phenotype-associated VAR_032312 commonName VAR_032312 VAR_032312 disease not phenotype-associated VAR_032313 commonName VAR_032313 VAR_032313 disease not phenotype-associated VAR_032314 commonName VAR_032314 VAR_032314 disease not phenotype-associated VAR_032316 commonName VAR_032316 VAR_032316 disease not phenotype-associated VAR_032317 commonName VAR_032317 VAR_032317 disease not phenotype-associated VAR_032318 commonName VAR_032318 VAR_032318 disease not phenotype-associated VAR_032320 commonName VAR_032320 VAR_032320 disease not phenotype-associated VAR_032321 commonName VAR_032321 VAR_032321 disease not phenotype-associated VAR_032322 commonName VAR_032322 VAR_032322 disease not phenotype-associated VAR_032323 commonName VAR_032323 VAR_032323 disease not phenotype-associated VAR_032324 commonName VAR_032324 VAR_032324 disease not phenotype-associated VAR_032325 commonName VAR_032325 VAR_032325 disease not phenotype-associated VAR_032326 commonName VAR_032326 VAR_032326 disease not phenotype-associated VAR_032327 commonName VAR_032327 VAR_032327 disease not phenotype-associated VAR_032328 commonName VAR_032328 VAR_032328 disease not phenotype-associated VAR_032329 commonName VAR_032329 VAR_032329 disease not phenotype-associated VAR_032330 commonName VAR_032330 VAR_032330 disease not phenotype-associated VAR_032331 commonName VAR_032331 VAR_032331 disease not phenotype-associated VAR_032332 commonName VAR_032332 VAR_032332 disease not phenotype-associated VAR_032333 commonName VAR_032333 VAR_032333 disease not phenotype-associated VAR_032334 commonName VAR_032334 VAR_032334 disease not phenotype-associated VAR_032335 commonName VAR_032335 VAR_032335 disease not phenotype-associated VAR_032336 commonName VAR_032336 VAR_032336 disease not phenotype-associated VAR_032337 commonName VAR_032337 VAR_032337 disease not phenotype-associated VAR_032339 commonName VAR_032339 VAR_032339 disease not phenotype-associated VAR_032340 commonName VAR_032340 VAR_032340 disease not phenotype-associated VAR_032341 commonName VAR_032341 VAR_032341 disease not phenotype-associated VAR_032342 commonName VAR_032342 VAR_032342 disease not phenotype-associated VAR_032343 commonName VAR_032343 VAR_032343 disease not phenotype-associated VAR_032344 commonName VAR_032344 VAR_032344 disease not phenotype-associated VAR_032345 commonName VAR_032345 VAR_032345 disease not phenotype-associated VAR_032346 commonName VAR_032346 VAR_032346 disease not phenotype-associated VAR_032347 commonName VAR_032347 VAR_032347 disease not phenotype-associated VAR_032348 commonName VAR_032348 VAR_032348 disease not phenotype-associated VAR_032349 commonName VAR_032349 VAR_032349 disease not phenotype-associated VAR_032352 commonName VAR_032352 VAR_032352 disease not phenotype-associated VAR_032353 commonName VAR_032353 VAR_032353 disease not phenotype-associated VAR_032354 commonName VAR_032354 VAR_032354 disease not phenotype-associated VAR_032356 commonName VAR_032356 VAR_032356 disease not phenotype-associated VAR_032357 commonName VAR_032357 VAR_032357 disease not phenotype-associated VAR_032358 commonName VAR_032358 VAR_032358 disease not phenotype-associated VAR_032359 commonName VAR_032359 VAR_032359 disease not phenotype-associated VAR_032360 commonName VAR_032360 VAR_032360 disease not phenotype-associated VAR_032361 commonName VAR_032361 VAR_032361 disease not phenotype-associated VAR_032362 commonName VAR_032362 VAR_032362 disease not phenotype-associated VAR_032363 commonName VAR_032363 VAR_032363 disease not phenotype-associated VAR_032364 commonName VAR_032364 VAR_032364 disease not phenotype-associated VAR_032365 commonName VAR_032365 VAR_032365 disease not phenotype-associated VAR_032366 commonName VAR_032366 VAR_032366 disease not phenotype-associated VAR_032367 commonName VAR_032367 VAR_032367 disease not phenotype-associated VAR_032368 commonName VAR_032368 VAR_032368 disease not phenotype-associated VAR_032369 commonName VAR_032369 VAR_032369 disease not phenotype-associated VAR_032374 commonName VAR_032374 VAR_032374 disease not phenotype-associated VAR_032375 commonName VAR_032375 VAR_032375 disease not phenotype-associated VAR_032376 commonName VAR_032376 VAR_032376 disease not phenotype-associated VAR_032381 commonName VAR_032381 VAR_032381 disease not phenotype-associated VAR_032382 commonName VAR_032382 VAR_032382 disease not phenotype-associated VAR_032383 commonName VAR_032383 VAR_032383 disease not phenotype-associated VAR_032384 commonName VAR_032384 VAR_032384 disease not phenotype-associated VAR_032385 commonName VAR_032385 VAR_032385 disease not phenotype-associated VAR_032386 commonName VAR_032386 HbVar.679 phenoCommon Hemoglobin variant HbVar.680 protEffect HBD 142(H19) Leu>Pro VAR_032386 disease not phenotype-associated VAR_032387 commonName VAR_032387 VAR_032387 disease not phenotype-associated VAR_032388 commonName VAR_032388 VAR_032388 disease not phenotype-associated VAR_032389 commonName VAR_032389 VAR_032389 disease not phenotype-associated VAR_032390 commonName VAR_032390 VAR_032390 disease not phenotype-associated VAR_032391 commonName VAR_032391 VAR_032391 disease not phenotype-associated VAR_032392 commonName VAR_032392 VAR_032392 disease not phenotype-associated VAR_032393 commonName VAR_032393 VAR_032393 disease not phenotype-associated VAR_032394 commonName VAR_032394 VAR_032394 disease phenotype-associated VAR_032394 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_032395 commonName VAR_032395 VAR_032395 disease phenotype-associated VAR_032395 phenoCommon Gaucher disease type 1 (GD1) [MIM:230800] VAR_032396 commonName VAR_032396 VAR_032396 disease not phenotype-associated VAR_032397 commonName VAR_032397 VAR_032397 disease phenotype-associated VAR_032397 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_032398 commonName VAR_032398 VAR_032398 disease phenotype-associated VAR_032398 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_032399 commonName VAR_032399 VAR_032399 disease phenotype-associated VAR_032399 phenoCommon Gaucher disease type 1 (GD1) [MIM:230800] VAR_032400 commonName VAR_032400 VAR_032400 disease phenotype-associated VAR_032400 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_032401 commonName VAR_032401 VAR_032401 disease phenotype-associated VAR_032401 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_032402 commonName VAR_032402 VAR_032402 disease phenotype-associated VAR_032402 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_032403 commonName VAR_032403 VAR_032403 disease phenotype-associated VAR_032403 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_032404 commonName VAR_032404 VAR_032404 disease phenotype-associated VAR_032404 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_032405 commonName VAR_032405 VAR_032405 disease phenotype-associated VAR_032405 phenoCommon Gaucher disease type 1 (GD1) [MIM:230800] VAR_032406 commonName VAR_032406 VAR_032406 disease phenotype-associated VAR_032406 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_032407 commonName VAR_032407 VAR_032407 disease phenotype-associated VAR_032407 phenoCommon Gaucher disease type 1 (GD1) [MIM:230800] VAR_032408 commonName VAR_032408 VAR_032408 disease phenotype-associated VAR_032408 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_032409 commonName VAR_032409 VAR_032409 disease phenotype-associated VAR_032409 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_032410 commonName VAR_032410 VAR_032410 disease not phenotype-associated VAR_032411 commonName VAR_032411 VAR_032411 disease not phenotype-associated VAR_032412 commonName VAR_032412 VAR_032412 disease phenotype-associated VAR_032412 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_032413 commonName VAR_032413 VAR_032413 disease phenotype-associated VAR_032413 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_032414 commonName VAR_032414 VAR_032414 disease phenotype-associated VAR_032414 phenoCommon Gaucher disease (GD) [MIM:230800] VAR_032417 commonName VAR_032417 VAR_032417 disease not phenotype-associated VAR_032418 commonName VAR_032418 VAR_032418 disease not phenotype-associated VAR_032419 commonName VAR_032419 VAR_032419 disease not phenotype-associated VAR_032420 commonName VAR_032420 VAR_032420 disease not phenotype-associated VAR_032421 commonName VAR_032421 VAR_032421 disease not phenotype-associated VAR_032422 commonName VAR_032422 VAR_032422 disease not phenotype-associated VAR_032423 commonName VAR_032423 VAR_032423 disease phenotype-associated VAR_032423 phenoCommon Torg-Winchester syndrome (TWS) [MIM:259600] VAR_032424 commonName VAR_032424 VAR_032424 disease not phenotype-associated VAR_032425 commonName VAR_032425 VAR_032425 disease phenotype-associated VAR_032425 phenoCommon Torg-Winchester syndrome (TWS) [MIM:259600] VAR_032426 commonName VAR_032426 VAR_032426 disease not phenotype-associated VAR_032427 commonName VAR_032427 VAR_032427 disease not phenotype-associated VAR_032428 commonName VAR_032428 VAR_032428 disease not phenotype-associated VAR_032429 commonName VAR_032429 VAR_032429 disease not phenotype-associated VAR_032430 commonName VAR_032430 VAR_032430 disease not phenotype-associated VAR_032431 commonName VAR_032431 VAR_032431 disease not phenotype-associated VAR_032432 commonName VAR_032432 VAR_032432 disease not phenotype-associated VAR_032433 commonName VAR_032433 VAR_032433 disease phenotype-associated VAR_032433 phenoCommon Microcephaly primary type 6 (MCPH6) [MIM:608393] VAR_032434 commonName VAR_032434 VAR_032434 disease phenotype-associated VAR_032434 phenoCommon Deafness autosomal dominant type 20 (DFNA20) [MIM:604717] VAR_032435 commonName VAR_032435 VAR_032435 disease phenotype-associated VAR_032435 phenoCommon Deafness autosomal dominant type 20 (DFNA20) [MIM:604717] VAR_032436 commonName VAR_032436 VAR_032436 disease phenotype-associated VAR_032436 phenoCommon Deafness autosomal dominant type 20 (DFNA20) [MIM:604717] VAR_032437 commonName VAR_032437 VAR_032437 disease phenotype-associated VAR_032437 phenoCommon Deafness autosomal dominant type 20 (DFNA20) [MIM:604717] VAR_032438 commonName VAR_032438 VAR_032438 disease phenotype-associated VAR_032438 phenoCommon Deafness autosomal dominant type 20 (DFNA20) [MIM:604717] VAR_032439 commonName VAR_032439 VAR_032439 disease phenotype-associated VAR_032439 phenoCommon Deafness autosomal dominant type 20 (DFNA20) [MIM:604717] VAR_032440 commonName VAR_032440 VAR_032440 disease not phenotype-associated VAR_032441 commonName VAR_032441 VAR_032441 disease not phenotype-associated VAR_032442 commonName VAR_032442 VAR_032442 disease not phenotype-associated VAR_032443 commonName VAR_032443 VAR_032443 disease not phenotype-associated VAR_032444 commonName VAR_032444 VAR_032444 disease not phenotype-associated VAR_032445 commonName VAR_032445 VAR_032445 disease not phenotype-associated VAR_032446 commonName VAR_032446 VAR_032446 disease not phenotype-associated VAR_032447 commonName VAR_032447 VAR_032447 disease not phenotype-associated VAR_032448 commonName VAR_032448 VAR_032448 disease not phenotype-associated VAR_032449 commonName VAR_032449 VAR_032449 disease not phenotype-associated VAR_032450 commonName VAR_032450 VAR_032450 disease not phenotype-associated VAR_032451 commonName VAR_032451 VAR_032451 disease not phenotype-associated VAR_032453 commonName VAR_032453 VAR_032453 disease not phenotype-associated VAR_032454 commonName VAR_032454 VAR_032454 disease not phenotype-associated VAR_032455 commonName VAR_032455 VAR_032455 disease not phenotype-associated VAR_032456 commonName VAR_032456 VAR_032456 disease not phenotype-associated VAR_032457 commonName VAR_032457 VAR_032457 disease not phenotype-associated VAR_032458 commonName VAR_032458 VAR_032458 disease not phenotype-associated VAR_032459 commonName VAR_032459 VAR_032459 disease phenotype-associated VAR_032459 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_032460 commonName VAR_032460 VAR_032460 disease phenotype-associated VAR_032460 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_032461 commonName VAR_032461 VAR_032461 disease phenotype-associated VAR_032461 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_032462 commonName VAR_032462 VAR_032462 disease phenotype-associated VAR_032462 phenoCommon Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321] VAR_032463 commonName VAR_032463 VAR_032463 disease phenotype-associated VAR_032463 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_032464 commonName VAR_032464 VAR_032464 disease phenotype-associated VAR_032464 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_032465 commonName VAR_032465 VAR_032465 disease phenotype-associated VAR_032465 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_032466 commonName VAR_032466 VAR_032466 disease phenotype-associated VAR_032466 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_032467 commonName VAR_032467 VAR_032467 disease phenotype-associated VAR_032467 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_032468 commonName VAR_032468 VAR_032468 disease phenotype-associated VAR_032468 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_032469 commonName VAR_032469 VAR_032469 disease not phenotype-associated VAR_032470 commonName VAR_032470 VAR_032470 disease phenotype-associated VAR_032470 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_032471 commonName VAR_032471 VAR_032471 disease phenotype-associated VAR_032471 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_032472 commonName VAR_032472 VAR_032472 disease phenotype-associated VAR_032472 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_032473 commonName VAR_032473 VAR_032473 disease phenotype-associated VAR_032473 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_032474 commonName VAR_032474 VAR_032474 disease phenotype-associated VAR_032474 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_032475 commonName VAR_032475 VAR_032475 disease phenotype-associated VAR_032475 phenoCommon Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321] VAR_032476 commonName VAR_032476 VAR_032476 disease phenotype-associated VAR_032476 phenoCommon Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321] VAR_032478 commonName VAR_032478 VAR_032478 disease not phenotype-associated VAR_032479 commonName VAR_032479 VAR_032479 disease not phenotype-associated VAR_032480 commonName VAR_032480 VAR_032480 disease not phenotype-associated VAR_032494 commonName VAR_032494 VAR_032494 disease not phenotype-associated VAR_032495 commonName VAR_032495 VAR_032495 disease not phenotype-associated VAR_032496 commonName VAR_032496 VAR_032496 disease not phenotype-associated VAR_032497 commonName VAR_032497 VAR_032497 disease not phenotype-associated VAR_032498 commonName VAR_032498 VAR_032498 disease not phenotype-associated VAR_032499 commonName VAR_032499 VAR_032499 disease not phenotype-associated VAR_032500 commonName VAR_032500 VAR_032500 disease not phenotype-associated VAR_032501 commonName VAR_032501 VAR_032501 disease not phenotype-associated VAR_032502 commonName VAR_032502 VAR_032502 disease not phenotype-associated VAR_032505 commonName VAR_032505 VAR_032505 disease not phenotype-associated VAR_032506 commonName VAR_032506 VAR_032506 disease not phenotype-associated VAR_032507 commonName VAR_032507 VAR_032507 disease not phenotype-associated VAR_032508 commonName VAR_032508 VAR_032508 disease not phenotype-associated VAR_032509 commonName VAR_032509 VAR_032509 disease not phenotype-associated VAR_032510 commonName VAR_032510 VAR_032510 disease not phenotype-associated VAR_032511 commonName VAR_032511 VAR_032511 disease not phenotype-associated VAR_032512 commonName VAR_032512 VAR_032512 disease not phenotype-associated VAR_032513 commonName VAR_032513 VAR_032513 disease not phenotype-associated VAR_032514 commonName VAR_032514 VAR_032514 disease not phenotype-associated VAR_032516 commonName VAR_032516 VAR_032516 disease not phenotype-associated VAR_032517 commonName VAR_032517 VAR_032517 disease not phenotype-associated VAR_032518 commonName VAR_032518 VAR_032518 disease not phenotype-associated VAR_032519 commonName VAR_032519 VAR_032519 disease not phenotype-associated VAR_032520 commonName VAR_032520 VAR_032520 disease not phenotype-associated VAR_032521 commonName VAR_032521 VAR_032521 disease not phenotype-associated VAR_032522 commonName VAR_032522 VAR_032522 disease not phenotype-associated VAR_032523 commonName VAR_032523 VAR_032523 disease not phenotype-associated VAR_032525 commonName VAR_032525 VAR_032525 disease not phenotype-associated VAR_032526 commonName VAR_032526 VAR_032526 disease not phenotype-associated VAR_032527 commonName VAR_032527 VAR_032527 disease not phenotype-associated VAR_032528 commonName VAR_032528 VAR_032528 disease not phenotype-associated VAR_032529 commonName VAR_032529 VAR_032529 disease not phenotype-associated VAR_032530 commonName VAR_032530 VAR_032530 disease not phenotype-associated VAR_032531 commonName VAR_032531 VAR_032531 disease not phenotype-associated VAR_032532 commonName VAR_032532 VAR_032532 disease not phenotype-associated VAR_032533 commonName VAR_032533 VAR_032533 disease not phenotype-associated VAR_032534 commonName VAR_032534 VAR_032534 disease not phenotype-associated VAR_032535 commonName VAR_032535 VAR_032535 disease not phenotype-associated VAR_032536 commonName VAR_032536 VAR_032536 disease not phenotype-associated VAR_032538 commonName VAR_032538 VAR_032538 disease not phenotype-associated VAR_032540 commonName VAR_032540 VAR_032540 disease not phenotype-associated VAR_032541 commonName VAR_032541 VAR_032541 disease not phenotype-associated VAR_032542 commonName VAR_032542 VAR_032542 disease not phenotype-associated VAR_032543 commonName VAR_032543 VAR_032543 disease not phenotype-associated VAR_032544 commonName VAR_032544 VAR_032544 disease not phenotype-associated VAR_032545 commonName VAR_032545 VAR_032545 disease not phenotype-associated VAR_032546 commonName VAR_032546 VAR_032546 disease not phenotype-associated VAR_032547 commonName VAR_032547 VAR_032547 disease not phenotype-associated VAR_032548 commonName VAR_032548 VAR_032548 disease not phenotype-associated VAR_032549 commonName VAR_032549 VAR_032549 disease not phenotype-associated VAR_032550 commonName VAR_032550 VAR_032550 disease not phenotype-associated VAR_032551 commonName VAR_032551 VAR_032551 disease not phenotype-associated VAR_032552 commonName VAR_032552 VAR_032552 disease not phenotype-associated VAR_032553 commonName VAR_032553 VAR_032553 disease not phenotype-associated VAR_032554 commonName VAR_032554 VAR_032554 disease not phenotype-associated VAR_032555 commonName VAR_032555 VAR_032555 disease not phenotype-associated VAR_032556 commonName VAR_032556 VAR_032556 disease not phenotype-associated VAR_032557 commonName VAR_032557 VAR_032557 disease not phenotype-associated VAR_032558 commonName VAR_032558 VAR_032558 disease not phenotype-associated VAR_032559 commonName VAR_032559 VAR_032559 disease not phenotype-associated VAR_032560 commonName VAR_032560 VAR_032560 disease not phenotype-associated VAR_032561 commonName VAR_032561 VAR_032561 disease not phenotype-associated VAR_032562 commonName VAR_032562 VAR_032562 disease not phenotype-associated VAR_032563 commonName VAR_032563 VAR_032563 disease not phenotype-associated VAR_032564 commonName VAR_032564 VAR_032564 disease not phenotype-associated VAR_032565 commonName VAR_032565 VAR_032565 disease not phenotype-associated VAR_032566 commonName VAR_032566 VAR_032566 disease not phenotype-associated VAR_032567 commonName VAR_032567 VAR_032567 disease not phenotype-associated VAR_032568 commonName VAR_032568 VAR_032568 disease not phenotype-associated VAR_032572 commonName VAR_032572 VAR_032572 disease not phenotype-associated VAR_032573 commonName VAR_032573 VAR_032573 disease not phenotype-associated VAR_032574 commonName VAR_032574 VAR_032574 disease not phenotype-associated VAR_032575 commonName VAR_032575 VAR_032575 disease not phenotype-associated VAR_032576 commonName VAR_032576 VAR_032576 disease not phenotype-associated VAR_032577 commonName VAR_032577 VAR_032577 disease not phenotype-associated VAR_032578 commonName VAR_032578 VAR_032578 disease not phenotype-associated VAR_032579 commonName VAR_032579 VAR_032579 disease not phenotype-associated VAR_032580 commonName VAR_032580 VAR_032580 disease not phenotype-associated VAR_032582 commonName VAR_032582 VAR_032582 disease not phenotype-associated VAR_032583 commonName VAR_032583 VAR_032583 disease not phenotype-associated VAR_032584 commonName VAR_032584 VAR_032584 disease not phenotype-associated VAR_032585 commonName VAR_032585 VAR_032585 disease not phenotype-associated VAR_032586 commonName VAR_032586 VAR_032586 disease not phenotype-associated VAR_032591 commonName VAR_032591 VAR_032591 disease not phenotype-associated VAR_032592 commonName VAR_032592 VAR_032592 disease not phenotype-associated VAR_032593 commonName VAR_032593 VAR_032593 disease not phenotype-associated VAR_032594 commonName VAR_032594 VAR_032594 disease not phenotype-associated VAR_032595 commonName VAR_032595 VAR_032595 disease not phenotype-associated VAR_032596 commonName VAR_032596 VAR_032596 disease not phenotype-associated VAR_032597 commonName VAR_032597 VAR_032597 disease not phenotype-associated VAR_032598 commonName VAR_032598 VAR_032598 disease not phenotype-associated VAR_032599 commonName VAR_032599 VAR_032599 disease not phenotype-associated VAR_032600 commonName VAR_032600 VAR_032600 disease not phenotype-associated VAR_032601 commonName VAR_032601 VAR_032601 disease not phenotype-associated VAR_032602 commonName VAR_032602 VAR_032602 disease not phenotype-associated VAR_032605 commonName VAR_032605 VAR_032605 disease not phenotype-associated VAR_032606 commonName VAR_032606 VAR_032606 disease not phenotype-associated VAR_032607 commonName VAR_032607 VAR_032607 disease not phenotype-associated VAR_032608 commonName VAR_032608 VAR_032608 disease not phenotype-associated VAR_032610 commonName VAR_032610 VAR_032610 disease not phenotype-associated VAR_032612 commonName VAR_032612 VAR_032612 disease not phenotype-associated VAR_032613 commonName VAR_032613 VAR_032614 commonName VAR_032614 VAR_032614 disease not phenotype-associated VAR_032615 commonName VAR_032615 VAR_032615 disease not phenotype-associated VAR_032616 commonName VAR_032616 VAR_032616 disease not phenotype-associated VAR_032617 commonName VAR_032617 VAR_032617 disease not phenotype-associated VAR_032618 commonName VAR_032618 VAR_032618 disease not phenotype-associated VAR_032619 commonName VAR_032619 VAR_032619 disease not phenotype-associated VAR_032620 commonName VAR_032620 VAR_032620 disease not phenotype-associated VAR_032621 commonName VAR_032621 VAR_032621 disease not phenotype-associated VAR_032622 commonName VAR_032622 VAR_032622 disease not phenotype-associated VAR_032623 commonName VAR_032623 VAR_032623 disease not phenotype-associated VAR_032624 commonName VAR_032624 VAR_032624 disease not phenotype-associated VAR_032625 commonName VAR_032625 VAR_032625 disease phenotype-associated VAR_032625 phenoCommon Mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM:309580] VAR_032626 commonName VAR_032626 VAR_032626 disease phenotype-associated VAR_032626 phenoCommon Mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM:309580] VAR_032627 commonName VAR_032627 VAR_032627 disease phenotype-associated VAR_032627 phenoCommon Mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM:309580] VAR_032630 commonName VAR_032630 VAR_032630 disease phenotype-associated VAR_032630 phenoCommon Inclusion body myopathy type 3 (IBM3) [MIM:605637] VAR_032631 commonName VAR_032631 VAR_032632 commonName VAR_032632 VAR_032632 disease not phenotype-associated VAR_032633 commonName VAR_032633 VAR_032633 disease not phenotype-associated VAR_032634 commonName VAR_032634 VAR_032634 disease phenotype-associated VAR_032634 phenoCommon Macrocephaly/autism syndrome (MCEPHAS) [MIM:605309] VAR_032635 comment One patient with clinical findings suggesting hamartoma tumor syndrome VAR_032635 commonName VAR_032635 VAR_032636 commonName VAR_032636 VAR_032636 disease phenotype-associated VAR_032636 phenoCommon Macrocephaly/autism syndrome (MCEPHAS) [MIM:605309] VAR_032637 commonName VAR_032637 VAR_032637 disease phenotype-associated VAR_032637 phenoCommon Macrocephaly/autism syndrome (MCEPHAS) [MIM:605309] VAR_032638 commonName VAR_032638 VAR_032638 disease not phenotype-associated VAR_032639 commonName VAR_032639 VAR_032639 disease not phenotype-associated VAR_032640 commonName VAR_032640 VAR_032640 disease not phenotype-associated VAR_032641 commonName VAR_032641 VAR_032641 disease not phenotype-associated VAR_032642 commonName VAR_032642 VAR_032642 disease not phenotype-associated VAR_032643 commonName VAR_032643 VAR_032644 commonName VAR_032644 VAR_032644 disease not phenotype-associated VAR_032645 commonName VAR_032645 VAR_032645 disease not phenotype-associated VAR_032646 commonName VAR_032646 VAR_032646 disease not phenotype-associated VAR_032647 commonName VAR_032647 VAR_032647 disease not phenotype-associated VAR_032648 commonName VAR_032648 VAR_032648 disease not phenotype-associated VAR_032649 commonName VAR_032649 VAR_032649 disease not phenotype-associated VAR_032650 commonName VAR_032650 VAR_032650 disease not phenotype-associated VAR_032651 commonName VAR_032651 VAR_032651 disease not phenotype-associated VAR_032652 commonName VAR_032652 VAR_032652 disease not phenotype-associated VAR_032653 commonName VAR_032653 VAR_032653 disease not phenotype-associated VAR_032654 commonName VAR_032654 VAR_032654 disease not phenotype-associated VAR_032669 commonName VAR_032669 VAR_032669 disease not phenotype-associated VAR_032670 commonName VAR_032670 VAR_032670 disease not phenotype-associated VAR_032671 commonName VAR_032671 VAR_032671 disease not phenotype-associated VAR_032672 commonName VAR_032672 VAR_032672 disease not phenotype-associated VAR_032673 commonName VAR_032673 VAR_032673 disease not phenotype-associated VAR_032674 commonName VAR_032674 VAR_032674 disease not phenotype-associated VAR_032675 commonName VAR_032675 VAR_032675 disease not phenotype-associated VAR_032676 comment A lung large cell carcinoma sample VAR_032676 commonName VAR_032676 VAR_032677 comment A melanoma sample VAR_032677 commonName VAR_032677 VAR_032678 commonName VAR_032678 VAR_032678 disease not phenotype-associated VAR_032679 comment An ovarian mucinous carcinoma sample VAR_032679 commonName VAR_032679 VAR_032680 comment A lung adenocarcinoma sample VAR_032680 commonName VAR_032680 VAR_032681 comment An ovarian mucinous carcinoma sample VAR_032681 commonName VAR_032681 VAR_032682 commonName VAR_032682 VAR_032682 disease not phenotype-associated VAR_032683 commonName VAR_032683 VAR_032683 disease not phenotype-associated VAR_032684 commonName VAR_032684 VAR_032684 disease not phenotype-associated VAR_032685 commonName VAR_032685 VAR_032685 disease not phenotype-associated VAR_032686 commonName VAR_032686 VAR_032686 disease not phenotype-associated VAR_032687 commonName VAR_032687 VAR_032687 disease not phenotype-associated VAR_032689 commonName VAR_032689 VAR_032690 commonName VAR_032690 VAR_032690 disease not phenotype-associated VAR_032695 commonName VAR_032695 VAR_032696 commonName VAR_032696 VAR_032696 disease phenotype-associated VAR_032696 phenoCommon Acute myelogenous leukemia (AML) [MIM:601626] VAR_032697 commonName VAR_032697 VAR_032697 disease phenotype-associated VAR_032697 phenoCommon Acute myelogenous leukemia (AML) [MIM:601626] VAR_032697 phenoCommon Polycythemia vera (PV) [MIM:263300] VAR_032697 phenoCommon Thrombocythemia type 3 (THCYT3) [MIM:614521] VAR_032698 commonName VAR_032698 VAR_032698 disease phenotype-associated VAR_032698 phenoCommon Thrombophilia due to activated protein C resistance (THPH2) [MIM:188055] VAR_032699 commonName VAR_032699 VAR_032699 disease phenotype-associated VAR_032699 phenoCommon Thrombophilia due to activated protein C resistance (THPH2) [MIM:188055] VAR_032700 commonName VAR_032700 VAR_032700 disease phenotype-associated VAR_032700 phenoCommon Factor V deficiency (FA5D) [MIM:227400] VAR_032701 commonName VAR_032701 VAR_032701 disease phenotype-associated VAR_032701 phenoCommon Factor V deficiency (FA5D) [MIM:227400] VAR_032702 commonName VAR_032702 VAR_032703 commonName VAR_032703 VAR_032705 commonName VAR_032705 VAR_032705 disease phenotype-associated VAR_032705 phenoCommon Idiopathic short stature autosomal (ISSA) [MIM:604271] VAR_032706 commonName VAR_032706 VAR_032706 disease not phenotype-associated VAR_032707 commonName VAR_032707 VAR_032707 disease not phenotype-associated VAR_032708 commonName VAR_032708 VAR_032708 disease not phenotype-associated VAR_032709 commonName VAR_032709 VAR_032709 disease not phenotype-associated VAR_032710 commonName VAR_032710 VAR_032710 disease not phenotype-associated VAR_032711 commonName VAR_032711 VAR_032711 disease phenotype-associated VAR_032711 phenoCommon HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911] VAR_032712 commonName VAR_032712 VAR_032712 disease phenotype-associated VAR_032712 phenoCommon Breast cancer (BC) [MIM:114480] VAR_032713 comment One patient with esophageal carcinoma VAR_032713 commonName VAR_032713 VAR_032714 comment One patient with pancreatic cancer VAR_032714 commonName VAR_032714 VAR_032715 commonName VAR_032715 VAR_032716 comment One patient with esophageal carcinoma VAR_032716 commonName VAR_032716 VAR_032717 commonName VAR_032717 VAR_032717 disease phenotype-associated VAR_032717 phenoCommon Breast cancer (BC) [MIM:114480] VAR_032718 commonName VAR_032718 VAR_032718 disease phenotype-associated VAR_032718 phenoCommon Breast cancer (BC) [MIM:114480] VAR_032719 commonName VAR_032719 VAR_032719 disease phenotype-associated VAR_032719 phenoCommon Breast cancer (BC) [MIM:114480] VAR_032720 commonName VAR_032720 VAR_032721 commonName VAR_032721 VAR_032722 commonName VAR_032722 VAR_032722 disease phenotype-associated VAR_032722 phenoCommon Breast cancer (BC) [MIM:114480] VAR_032723 commonName VAR_032723 VAR_032723 disease phenotype-associated VAR_032723 phenoCommon Breast cancer (BC) [MIM:114480] VAR_032724 commonName VAR_032724 VAR_032724 disease phenotype-associated VAR_032724 phenoCommon Breast cancer (BC) [MIM:114480] VAR_032725 comment One patient with esophageal carcinoma VAR_032725 commonName VAR_032725 VAR_032726 commonName VAR_032726 VAR_032727 commonName VAR_032727 VAR_032727 disease not phenotype-associated VAR_032728 commonName VAR_032728 VAR_032728 disease phenotype-associated VAR_032728 phenoCommon Breast cancer (BC) [MIM:114480] VAR_032729 commonName VAR_032729 VAR_032729 disease phenotype-associated VAR_032729 phenoCommon Breast cancer (BC) [MIM:114480] VAR_032730 commonName VAR_032730 VAR_032730 disease phenotype-associated VAR_032730 phenoCommon Fanconi anemia complementation group D type 1 (FANCD1) [MIM:605724] VAR_032731 commonName VAR_032731 VAR_032731 disease phenotype-associated VAR_032731 phenoCommon Breast cancer (BC) [MIM:114480] VAR_032732 commonName VAR_032732 VAR_032732 disease phenotype-associated VAR_032732 phenoCommon Fanconi anemia complementation group D type 1 (FANCD1) [MIM:605724] VAR_032733 commonName VAR_032733 VAR_032733 disease phenotype-associated VAR_032733 phenoCommon Fanconi anemia complementation group D type 1 (FANCD1) [MIM:605724] VAR_032734 comment One patient with esophageal carcinoma VAR_032734 commonName VAR_032734 VAR_032735 comment One patient with esophageal carcinoma VAR_032735 commonName VAR_032735 VAR_032737 commonName VAR_032737 VAR_032737 disease phenotype-associated VAR_032737 phenoCommon Split-hand/foot malformation type 4 (SHFM4) [MIM:605289] VAR_032738 commonName VAR_032738 VAR_032738 disease phenotype-associated VAR_032738 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] VAR_032739 commonName VAR_032739 VAR_032739 disease phenotype-associated VAR_032739 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] VAR_032740 commonName VAR_032740 VAR_032740 disease phenotype-associated VAR_032740 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] VAR_032741 commonName VAR_032741 VAR_032741 disease phenotype-associated VAR_032741 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] VAR_032742 commonName VAR_032742 VAR_032742 disease phenotype-associated VAR_032742 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] VAR_032743 commonName VAR_032743 VAR_032743 disease phenotype-associated VAR_032743 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] VAR_032743 phenoCommon Split-hand/foot malformation type 4 (SHFM4) [MIM:605289] VAR_032744 commonName VAR_032744 VAR_032744 disease phenotype-associated VAR_032744 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] VAR_032745 commonName VAR_032745 VAR_032745 disease phenotype-associated VAR_032745 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] VAR_032746 commonName VAR_032746 VAR_032746 disease phenotype-associated VAR_032746 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] VAR_032747 commonName VAR_032747 VAR_032747 disease phenotype-associated VAR_032747 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] VAR_032748 commonName VAR_032748 VAR_032748 disease phenotype-associated VAR_032748 phenoCommon Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292] VAR_032749 commonName VAR_032749 VAR_032749 disease phenotype-associated VAR_032749 phenoCommon Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544] VAR_032750 commonName VAR_032750 VAR_032750 disease phenotype-associated VAR_032750 phenoCommon Bart-Pumphrey syndrome (BPS) [MIM:149200] VAR_032751 commonName VAR_032751 VAR_032751 disease phenotype-associated VAR_032751 phenoCommon Bart-Pumphrey syndrome (BPS) [MIM:149200] VAR_032752 commonName VAR_032752 VAR_032752 disease phenotype-associated VAR_032752 phenoCommon Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544] VAR_032753 commonName VAR_032753 VAR_032753 disease phenotype-associated VAR_032753 phenoCommon Spondyloepimetaphyseal dysplasia Missouri type (SEMD-MO) [MIM:602111] VAR_032754 commonName VAR_032754 VAR_032754 disease not phenotype-associated VAR_032755 commonName VAR_032755 VAR_032755 disease not phenotype-associated VAR_032756 commonName VAR_032756 VAR_032756 disease not phenotype-associated VAR_032757 commonName VAR_032757 VAR_032757 disease phenotype-associated VAR_032757 phenoCommon HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911] VAR_032758 commonName VAR_032758 VAR_032758 disease phenotype-associated VAR_032758 phenoCommon HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911] VAR_032759 commonName VAR_032759 VAR_032759 disease phenotype-associated VAR_032759 phenoCommon HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911] VAR_032761 commonName VAR_032761 VAR_032761 disease not phenotype-associated VAR_032762 commonName VAR_032762 VAR_032762 disease not phenotype-associated VAR_032763 commonName VAR_032763 VAR_032763 disease not phenotype-associated VAR_032764 commonName VAR_032764 VAR_032764 disease not phenotype-associated VAR_032766 commonName VAR_032766 VAR_032766 disease not phenotype-associated VAR_032767 commonName VAR_032767 VAR_032767 disease not phenotype-associated VAR_032768 commonName VAR_032768 VAR_032768 disease not phenotype-associated VAR_032769 commonName VAR_032769 VAR_032769 disease not phenotype-associated VAR_032770 commonName VAR_032770 VAR_032770 disease not phenotype-associated VAR_032771 commonName VAR_032771 VAR_032771 disease not phenotype-associated VAR_032774 commonName VAR_032774 VAR_032774 disease not phenotype-associated VAR_032775 commonName VAR_032775 VAR_032775 disease not phenotype-associated VAR_032776 commonName VAR_032776 VAR_032776 disease phenotype-associated VAR_032776 phenoCommon Cerebro-oculo-facio-skeletal syndrome type 4 (COFS4) [MIM:610758] VAR_032786 commonName VAR_032786 VAR_032786 disease not phenotype-associated VAR_032787 commonName VAR_032787 VAR_032787 disease not phenotype-associated VAR_032788 commonName VAR_032788 VAR_032788 disease not phenotype-associated VAR_032789 commonName VAR_032789 VAR_032789 disease not phenotype-associated VAR_032790 commonName VAR_032790 VAR_032790 disease not phenotype-associated VAR_032791 commonName VAR_032791 VAR_032791 disease not phenotype-associated VAR_032792 comment A lung adenocarcinoma sample VAR_032792 commonName VAR_032792 VAR_032793 commonName VAR_032793 VAR_032793 disease not phenotype-associated VAR_032794 comment An ovarian mucinous carcinoma sample VAR_032794 commonName VAR_032794 VAR_032795 commonName VAR_032795 VAR_032795 disease not phenotype-associated VAR_032796 commonName VAR_032796 VAR_032796 disease not phenotype-associated VAR_032797 comment An ovarian endometrioid cancer sample VAR_032797 commonName VAR_032797 VAR_032798 comment A gastric adenocarcinoma sample VAR_032798 commonName VAR_032798 VAR_032799 commonName VAR_032799 VAR_032799 disease not phenotype-associated VAR_032800 commonName VAR_032800 VAR_032800 disease not phenotype-associated VAR_032801 commonName VAR_032801 VAR_032801 disease not phenotype-associated VAR_032802 commonName VAR_032802 VAR_032802 disease not phenotype-associated VAR_032803 commonName VAR_032803 VAR_032803 disease not phenotype-associated VAR_032804 commonName VAR_032804 VAR_032804 disease not phenotype-associated VAR_032805 commonName VAR_032805 VAR_032805 disease not phenotype-associated VAR_032806 commonName VAR_032806 VAR_032806 disease not phenotype-associated VAR_032807 commonName VAR_032807 VAR_032807 disease not phenotype-associated VAR_032808 commonName VAR_032808 VAR_032808 disease not phenotype-associated VAR_032809 commonName VAR_032809 VAR_032809 disease not phenotype-associated VAR_032810 comment A gastric adenocarcinoma sample VAR_032810 commonName VAR_032810 VAR_032811 commonName VAR_032811 VAR_032811 disease not phenotype-associated VAR_032812 commonName VAR_032812 VAR_032812 disease not phenotype-associated VAR_032813 commonName VAR_032813 VAR_032813 disease not phenotype-associated VAR_032814 commonName VAR_032814 VAR_032814 disease not phenotype-associated VAR_032815 commonName VAR_032815 VAR_032815 disease not phenotype-associated VAR_032816 commonName VAR_032816 VAR_032816 disease not phenotype-associated VAR_032817 commonName VAR_032817 VAR_032817 disease not phenotype-associated VAR_032818 commonName VAR_032818 VAR_032818 disease not phenotype-associated VAR_032819 commonName VAR_032819 VAR_032819 disease not phenotype-associated VAR_032820 commonName VAR_032820 VAR_032820 disease not phenotype-associated VAR_032822 commonName VAR_032822 VAR_032822 disease not phenotype-associated VAR_032823 commonName VAR_032823 VAR_032823 disease not phenotype-associated VAR_032824 commonName VAR_032824 VAR_032824 disease not phenotype-associated VAR_032825 commonName VAR_032825 VAR_032825 disease phenotype-associated VAR_032825 phenoCommon Hereditary folate malabsorption (HFM) [MIM:229050] VAR_032826 commonName VAR_032826 VAR_032826 disease phenotype-associated VAR_032826 phenoCommon Hereditary folate malabsorption (HFM) [MIM:229050] VAR_032827 commonName VAR_032827 VAR_032827 disease phenotype-associated VAR_032827 phenoCommon Hereditary folate malabsorption (HFM) [MIM:229050] VAR_032828 commonName VAR_032828 VAR_032828 disease phenotype-associated VAR_032828 phenoCommon Hereditary folate malabsorption (HFM) [MIM:229050] VAR_032829 commonName VAR_032829 VAR_032829 disease phenotype-associated VAR_032829 phenoCommon Hereditary folate malabsorption (HFM) [MIM:229050] VAR_032831 commonName VAR_032831 VAR_032831 disease not phenotype-associated VAR_032832 commonName VAR_032832 VAR_032832 disease not phenotype-associated VAR_032833 commonName VAR_032833 VAR_032833 disease not phenotype-associated VAR_032834 commonName VAR_032834 VAR_032834 disease not phenotype-associated VAR_032835 commonName VAR_032835 VAR_032835 disease not phenotype-associated VAR_032836 commonName VAR_032836 VAR_032836 disease not phenotype-associated VAR_032837 commonName VAR_032837 VAR_032837 disease not phenotype-associated VAR_032838 commonName VAR_032838 VAR_032838 disease not phenotype-associated VAR_032839 commonName VAR_032839 VAR_032839 disease not phenotype-associated VAR_032840 commonName VAR_032840 VAR_032840 disease not phenotype-associated VAR_032841 commonName VAR_032841 VAR_032841 disease not phenotype-associated VAR_032842 commonName VAR_032842 VAR_032842 disease phenotype-associated VAR_032842 phenoCommon Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187] VAR_032843 commonName VAR_032843 VAR_032843 disease phenotype-associated VAR_032843 phenoCommon Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187] VAR_032844 commonName VAR_032844 VAR_032844 disease phenotype-associated VAR_032844 phenoCommon Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187] VAR_032846 commonName VAR_032846 VAR_032846 disease not phenotype-associated VAR_032847 commonName VAR_032847 VAR_032847 disease not phenotype-associated VAR_032848 commonName VAR_032848 VAR_032848 disease not phenotype-associated VAR_032849 commonName VAR_032849 VAR_032849 disease phenotype-associated VAR_032849 phenoCommon Ichthyosis autosomal recessive with hypotrichosis (ARIH) [MIM:610765] VAR_032850 commonName VAR_032850 VAR_032850 disease phenotype-associated VAR_032850 phenoCommon Mitochondrial phosphate carrier deficiency (MPCD) [MIM:610773] VAR_032851 commonName VAR_032851 VAR_032851 disease phenotype-associated VAR_032851 phenoCommon Congenital disorder of glycosylation type 1M (CDG1M) [MIM:610768] VAR_032852 commonName VAR_032852 VAR_032852 disease phenotype-associated VAR_032852 phenoCommon Congenital disorder of glycosylation type 1M (CDG1M) [MIM:610768] VAR_032853 commonName VAR_032853 VAR_032853 disease phenotype-associated VAR_032853 phenoCommon Prostate cancer (PC) [MIM:176807] VAR_032854 commonName VAR_032854 VAR_032854 disease phenotype-associated VAR_032854 phenoCommon Prostate cancer (PC) [MIM:176807] VAR_032855 commonName VAR_032855 VAR_032855 disease phenotype-associated VAR_032855 phenoCommon Prostate cancer (PC) [MIM:176807] VAR_032856 commonName VAR_032856 VAR_032856 disease phenotype-associated VAR_032856 phenoCommon Prostate cancer (PC) [MIM:176807] VAR_032857 commonName VAR_032857 VAR_032857 disease phenotype-associated VAR_032857 phenoCommon Prostate cancer (PC) [MIM:176807] VAR_032858 commonName VAR_032858 VAR_032858 disease phenotype-associated VAR_032858 phenoCommon Prostate cancer (PC) [MIM:176807] VAR_032859 commonName VAR_032859 VAR_032859 disease not phenotype-associated VAR_032860 commonName VAR_032860 VAR_032860 disease not phenotype-associated VAR_032861 commonName VAR_032861 VAR_032861 disease not phenotype-associated VAR_032862 commonName VAR_032862 VAR_032862 disease not phenotype-associated VAR_032863 commonName VAR_032863 VAR_032863 disease not phenotype-associated VAR_032864 commonName VAR_032864 VAR_032864 disease not phenotype-associated VAR_032865 commonName VAR_032865 VAR_032865 disease not phenotype-associated VAR_032866 commonName VAR_032866 VAR_032866 disease not phenotype-associated VAR_032867 commonName VAR_032867 VAR_032867 disease not phenotype-associated VAR_032868 commonName VAR_032868 VAR_032868 disease not phenotype-associated VAR_032869 commonName VAR_032869 VAR_032869 disease not phenotype-associated VAR_032870 commonName VAR_032870 VAR_032870 disease not phenotype-associated VAR_032871 commonName VAR_032871 VAR_032871 disease phenotype-associated VAR_032871 phenoCommon Mal de Meleda (MDM) [MIM:248300] VAR_032872 commonName VAR_032872 VAR_032872 disease phenotype-associated VAR_032872 phenoCommon Mal de Meleda (MDM) [MIM:248300] VAR_032873 commonName VAR_032873 VAR_032873 disease phenotype-associated VAR_032873 phenoCommon Mal de Meleda (MDM) [MIM:248300] VAR_032874 commonName VAR_032874 VAR_032874 disease phenotype-associated VAR_032874 phenoCommon Mal de Meleda (MDM) [MIM:248300] VAR_032875 commonName VAR_032875 VAR_032875 disease phenotype-associated VAR_032875 phenoCommon Mal de Meleda (MDM) [MIM:248300] VAR_032877 commonName VAR_032877 VAR_032877 disease not phenotype-associated VAR_032878 commonName VAR_032878 VAR_032878 disease not phenotype-associated VAR_032879 commonName VAR_032879 VAR_032879 disease not phenotype-associated VAR_032880 commonName VAR_032880 VAR_032880 disease not phenotype-associated VAR_032881 commonName VAR_032881 VAR_032881 disease not phenotype-associated VAR_032882 commonName VAR_032882 VAR_032882 disease not phenotype-associated VAR_032883 commonName VAR_032883 VAR_032883 disease not phenotype-associated VAR_032884 commonName VAR_032884 VAR_032884 disease not phenotype-associated VAR_032885 commonName VAR_032885 VAR_032885 disease not phenotype-associated VAR_032886 commonName VAR_032886 VAR_032886 disease not phenotype-associated VAR_032887 commonName VAR_032887 VAR_032887 disease not phenotype-associated VAR_032888 commonName VAR_032888 VAR_032888 disease not phenotype-associated VAR_032889 commonName VAR_032889 VAR_032889 disease not phenotype-associated VAR_032890 commonName VAR_032890 VAR_032890 disease not phenotype-associated VAR_032891 commonName VAR_032891 VAR_032891 disease not phenotype-associated VAR_032892 commonName VAR_032892 VAR_032892 disease not phenotype-associated VAR_032893 commonName VAR_032893 VAR_032893 disease not phenotype-associated VAR_032894 commonName VAR_032894 VAR_032894 disease not phenotype-associated VAR_032895 commonName VAR_032895 VAR_032895 disease not phenotype-associated VAR_032896 commonName VAR_032896 VAR_032896 disease not phenotype-associated VAR_032897 commonName VAR_032897 VAR_032897 disease not phenotype-associated VAR_032898 commonName VAR_032898 VAR_032898 disease not phenotype-associated VAR_032899 commonName VAR_032899 VAR_032899 disease not phenotype-associated VAR_032900 commonName VAR_032900 VAR_032900 disease not phenotype-associated VAR_032901 commonName VAR_032901 VAR_032901 disease not phenotype-associated VAR_032904 commonName VAR_032904 VAR_032904 disease not phenotype-associated VAR_032905 commonName VAR_032905 VAR_032905 disease not phenotype-associated VAR_032906 commonName VAR_032906 VAR_032906 disease not phenotype-associated VAR_032907 commonName VAR_032907 VAR_032907 disease not phenotype-associated VAR_032908 commonName VAR_032908 VAR_032908 disease not phenotype-associated VAR_032910 commonName VAR_032910 VAR_032910 disease phenotype-associated VAR_032910 phenoCommon Multiminicore disease with external ophthalmoplegia (MMDO) [MIM:255320] VAR_032911 commonName VAR_032911 VAR_032911 disease not phenotype-associated VAR_032912 commonName VAR_032912 VAR_032912 disease not phenotype-associated VAR_032913 commonName VAR_032913 VAR_032913 disease not phenotype-associated VAR_032914 commonName VAR_032914 VAR_032914 disease not phenotype-associated VAR_032915 commonName VAR_032915 VAR_032915 disease phenotype-associated VAR_032915 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_032915 phenoCommon Multiminicore disease with external ophthalmoplegia (MMDO) [MIM:255320] VAR_032916 commonName VAR_032916 VAR_032916 disease not phenotype-associated VAR_032917 commonName VAR_032917 VAR_032917 disease phenotype-associated VAR_032917 phenoCommon Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310] VAR_032918 commonName VAR_032918 VAR_032918 disease phenotype-associated VAR_032918 phenoCommon Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310] VAR_032919 commonName VAR_032919 VAR_032919 disease phenotype-associated VAR_032919 phenoCommon Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310] VAR_032921 commonName VAR_032921 VAR_032921 disease not phenotype-associated VAR_032922 commonName VAR_032922 VAR_032922 disease not phenotype-associated VAR_032923 commonName VAR_032923 VAR_032923 disease not phenotype-associated VAR_032927 commonName VAR_032927 VAR_032927 disease not phenotype-associated VAR_032928 commonName VAR_032928 VAR_032928 disease not phenotype-associated VAR_032929 commonName VAR_032929 VAR_032929 disease not phenotype-associated VAR_032930 commonName VAR_032930 VAR_032930 disease not phenotype-associated VAR_032931 commonName VAR_032931 VAR_032931 disease not phenotype-associated VAR_032932 commonName VAR_032932 VAR_032932 disease not phenotype-associated VAR_032933 commonName VAR_032933 VAR_032933 disease not phenotype-associated VAR_032934 commonName VAR_032934 VAR_032934 disease not phenotype-associated VAR_032935 commonName VAR_032935 VAR_032935 disease not phenotype-associated VAR_032936 commonName VAR_032936 VAR_032936 disease not phenotype-associated VAR_032937 commonName VAR_032937 VAR_032937 disease not phenotype-associated VAR_032938 commonName VAR_032938 VAR_032938 disease not phenotype-associated VAR_032939 commonName VAR_032939 VAR_032939 disease not phenotype-associated VAR_032940 commonName VAR_032940 VAR_032940 disease phenotype-associated VAR_032940 phenoCommon Aicardi-Goutieres syndrome type 1 (AGS1) [MIM:225750] VAR_032941 commonName VAR_032941 VAR_032941 disease phenotype-associated VAR_032941 phenoCommon Branchiootorenal syndrome type 2 (BOR2) [MIM:610896] VAR_032942 commonName VAR_032942 VAR_032942 disease phenotype-associated VAR_032942 phenoCommon Branchiootorenal syndrome type 2 (BOR2) [MIM:610896] VAR_032943 commonName VAR_032943 VAR_032943 disease phenotype-associated VAR_032943 phenoCommon Branchiootorenal syndrome type 2 (BOR2) [MIM:610896] VAR_032944 commonName VAR_032944 VAR_032944 disease phenotype-associated VAR_032944 phenoCommon Branchiootorenal syndrome type 2 (BOR2) [MIM:610896] VAR_032945 commonName VAR_032945 VAR_032945 disease not phenotype-associated VAR_032946 commonName VAR_032946 VAR_032946 disease not phenotype-associated VAR_032947 commonName VAR_032947 VAR_032947 disease not phenotype-associated VAR_032948 commonName VAR_032948 VAR_032948 disease not phenotype-associated VAR_032949 commonName VAR_032949 VAR_032949 disease not phenotype-associated VAR_032950 commonName VAR_032950 VAR_032950 disease not phenotype-associated VAR_032951 commonName VAR_032951 VAR_032951 disease not phenotype-associated VAR_032952 commonName VAR_032952 VAR_032952 disease phenotype-associated VAR_032952 phenoCommon Holoprosencephaly type 7 (HPE7) [MIM:610828] VAR_032953 commonName VAR_032953 VAR_032953 disease phenotype-associated VAR_032953 phenoCommon Holoprosencephaly type 7 (HPE7) [MIM:610828] VAR_032954 commonName VAR_032954 VAR_032954 disease phenotype-associated VAR_032954 phenoCommon Holoprosencephaly type 7 (HPE7) [MIM:610828] VAR_032955 commonName VAR_032955 VAR_032955 disease phenotype-associated VAR_032955 phenoCommon Holoprosencephaly type 7 (HPE7) [MIM:610828] VAR_032956 commonName VAR_032956 VAR_032956 disease phenotype-associated VAR_032956 phenoCommon Holoprosencephaly type 7 (HPE7) [MIM:610828] VAR_032957 commonName VAR_032957 VAR_032957 disease phenotype-associated VAR_032957 phenoCommon Holoprosencephaly type 7 (HPE7) [MIM:610828] VAR_032958 commonName VAR_032958 VAR_032958 disease phenotype-associated VAR_032958 phenoCommon Holoprosencephaly type 7 (HPE7) [MIM:610828] VAR_032959 commonName VAR_032959 VAR_032959 disease not phenotype-associated VAR_032960 commonName VAR_032960 VAR_032960 disease phenotype-associated VAR_032960 phenoCommon Vesicoureteral reflux type 2 (VUR2) [MIM:610878] VAR_032961 commonName VAR_032961 VAR_032961 disease phenotype-associated VAR_032961 phenoCommon Vesicoureteral reflux type 2 (VUR2) [MIM:610878] VAR_032962 commonName VAR_032962 VAR_032962 disease not phenotype-associated VAR_032963 commonName VAR_032963 VAR_032963 disease phenotype-associated VAR_032963 phenoCommon Deafness autosomal dominant type 6 (DFNA6) [MIM:600965] VAR_032964 commonName VAR_032964 VAR_032964 disease phenotype-associated VAR_032964 phenoCommon Deafness autosomal dominant type 6 (DFNA6) [MIM:600965] VAR_032970 commonName VAR_032970 VAR_032970 disease not phenotype-associated VAR_032971 commonName VAR_032971 VAR_032971 disease not phenotype-associated VAR_032972 commonName VAR_032972 VAR_032972 disease not phenotype-associated VAR_032973 commonName VAR_032973 VAR_032973 disease not phenotype-associated VAR_032974 commonName VAR_032974 VAR_032974 disease not phenotype-associated VAR_032975 commonName VAR_032975 VAR_032975 disease phenotype-associated VAR_032975 phenoCommon Holoprosencephaly type 9 (HPE9) [MIM:610829] VAR_032976 commonName VAR_032976 VAR_032976 disease phenotype-associated VAR_032976 phenoCommon Holoprosencephaly type 9 (HPE9) [MIM:610829] VAR_032979 commonName VAR_032979 VAR_032979 disease phenotype-associated VAR_032979 phenoCommon Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842] VAR_032980 commonName VAR_032980 VAR_032980 disease phenotype-associated VAR_032980 phenoCommon Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842] VAR_032981 commonName VAR_032981 VAR_032981 disease phenotype-associated VAR_032981 phenoCommon Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842] VAR_032982 commonName VAR_032982 VAR_032982 disease phenotype-associated VAR_032982 phenoCommon Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842] VAR_032983 commonName VAR_032983 VAR_032983 disease phenotype-associated VAR_032983 phenoCommon Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842] VAR_032984 commonName VAR_032984 VAR_032984 disease not phenotype-associated VAR_032985 commonName VAR_032985 VAR_032985 disease not phenotype-associated VAR_032986 commonName VAR_032986 VAR_032986 disease phenotype-associated VAR_032986 phenoCommon Mental retardation syndromic X-linked JARID1C-related (MRXSJ) [MIM:300534] VAR_032987 commonName VAR_032987 VAR_032987 disease phenotype-associated VAR_032987 phenoCommon Mental retardation syndromic X-linked JARID1C-related (MRXSJ) [MIM:300534] VAR_032988 commonName VAR_032988 VAR_032988 disease phenotype-associated VAR_032988 phenoCommon Mental retardation syndromic X-linked JARID1C-related (MRXSJ) [MIM:300534] VAR_032989 commonName VAR_032989 VAR_032989 disease phenotype-associated VAR_032989 phenoCommon Mental retardation syndromic X-linked JARID1C-related (MRXSJ) [MIM:300534] VAR_032990 commonName VAR_032990 VAR_032990 disease phenotype-associated VAR_032990 phenoCommon Mental retardation syndromic X-linked JARID1C-related (MRXSJ) [MIM:300534] VAR_032991 commonName VAR_032991 VAR_032991 disease not phenotype-associated VAR_032992 commonName VAR_032992 VAR_032992 disease not phenotype-associated VAR_032993 commonName VAR_032993 VAR_032993 disease not phenotype-associated VAR_032994 commonName VAR_032994 VAR_032994 disease not phenotype-associated VAR_032995 commonName VAR_032995 VAR_032995 disease phenotype-associated VAR_032995 phenoCommon Neutral lipid storage disease with myopathy (NLSDM) [MIM:610717] VAR_032996 commonName VAR_032996 VAR_032996 disease not phenotype-associated VAR_032997 commonName VAR_032997 VAR_032997 disease not phenotype-associated VAR_032998 commonName VAR_032998 VAR_032998 disease not phenotype-associated VAR_032999 commonName VAR_032999 VAR_032999 disease not phenotype-associated VAR_033000 commonName VAR_033000 VAR_033000 disease not phenotype-associated VAR_033001 commonName VAR_033001 VAR_033001 disease not phenotype-associated VAR_033002 commonName VAR_033002 VAR_033002 disease not phenotype-associated VAR_033003 commonName VAR_033003 VAR_033003 disease not phenotype-associated VAR_033004 commonName VAR_033004 VAR_033004 disease not phenotype-associated VAR_033005 commonName VAR_033005 VAR_033005 disease not phenotype-associated VAR_033006 commonName VAR_033006 VAR_033006 disease not phenotype-associated VAR_033007 commonName VAR_033007 VAR_033007 disease phenotype-associated VAR_033007 phenoCommon Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555] VAR_033009 commonName VAR_033009 VAR_033009 disease not phenotype-associated VAR_033010 commonName VAR_033010 VAR_033010 disease phenotype-associated VAR_033010 phenoCommon Ectodermal dysplasia with ectrodactyly and macular dystrophy (EEM) [MIM:225280] VAR_033012 commonName VAR_033012 VAR_033012 disease phenotype-associated VAR_033012 phenoCommon Hypochromic microcytic anemia (HCMA) [MIM:206100] VAR_033013 commonName VAR_033013 VAR_033013 disease phenotype-associated VAR_033013 phenoCommon Hypochromic microcytic anemia (HCMA) [MIM:206100] VAR_033014 commonName VAR_033014 VAR_033014 disease phenotype-associated VAR_033014 phenoCommon Hypochromic microcytic anemia (HCMA) [MIM:206100] VAR_033015 commonName VAR_033015 VAR_033015 disease phenotype-associated VAR_033015 phenoCommon Isolated follicle-stimulating hormone deficiency (IFSHD) [MIM:229070] VAR_033016 commonName VAR_033016 VAR_033016 disease phenotype-associated VAR_033016 phenoCommon Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320] VAR_033017 commonName VAR_033017 VAR_033017 disease phenotype-associated VAR_033017 phenoCommon Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320] VAR_033018 commonName VAR_033018 VAR_033018 disease phenotype-associated VAR_033018 phenoCommon Amyotrophic lateral sclerosis type 14 with or without frontotemporal dementia (ALS14) [MIM:613954] VAR_033018 phenoCommon Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320] VAR_033019 commonName VAR_033019 VAR_033019 disease phenotype-associated VAR_033019 phenoCommon Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320] VAR_033020 commonName VAR_033020 VAR_033020 disease phenotype-associated VAR_033020 phenoCommon Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320] VAR_033021 commonName VAR_033021 VAR_033021 disease phenotype-associated VAR_033021 phenoCommon Amyotrophic lateral sclerosis type 14 with or without frontotemporal dementia (ALS14) [MIM:613954] VAR_033021 phenoCommon Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320] VAR_033022 commonName VAR_033022 VAR_033022 disease phenotype-associated VAR_033022 phenoCommon Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320] VAR_033024 commonName VAR_033024 VAR_033024 disease not phenotype-associated VAR_033025 comment A breast cancer sample VAR_033025 commonName VAR_033025 VAR_033026 comment A breast cancer sample VAR_033026 commonName VAR_033026 VAR_033027 comment A breast cancer sample VAR_033027 commonName VAR_033027 VAR_033028 comment A breast cancer sample VAR_033028 commonName VAR_033028 VAR_033029 comment A breast cancer sample VAR_033029 commonName VAR_033029 VAR_033030 comment A breast cancer sample VAR_033030 commonName VAR_033030 VAR_033031 comment A breast cancer sample VAR_033031 commonName VAR_033031 VAR_033032 comment A breast cancer sample VAR_033032 commonName VAR_033032 VAR_033033 comment Sporadic cancers VAR_033033 commonName VAR_033033 VAR_033034 comment Sporadic cancers VAR_033034 commonName VAR_033034 VAR_033035 commonName VAR_033035 VAR_033035 disease phenotype-associated VAR_033035 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_033036 comment Sporadic cancers VAR_033036 commonName VAR_033036 VAR_033037 comment Sporadic cancers VAR_033037 commonName VAR_033037 VAR_033038 comment Sporadic cancers VAR_033038 commonName VAR_033038 VAR_033039 comment Sporadic cancers VAR_033039 commonName VAR_033039 VAR_033040 commonName VAR_033040 VAR_033040 disease not phenotype-associated VAR_033041 commonName VAR_033041 VAR_033041 disease not phenotype-associated VAR_033042 commonName VAR_033042 VAR_033042 disease not phenotype-associated VAR_033043 commonName VAR_033043 VAR_033043 disease not phenotype-associated VAR_033044 commonName VAR_033044 VAR_033044 disease not phenotype-associated VAR_033046 commonName VAR_033046 VAR_033046 disease not phenotype-associated VAR_033047 commonName VAR_033047 VAR_033047 disease not phenotype-associated VAR_033048 commonName VAR_033048 VAR_033048 disease not phenotype-associated VAR_033049 commonName VAR_033049 VAR_033049 disease not phenotype-associated VAR_033054 commonName VAR_033054 VAR_033054 disease phenotype-associated VAR_033054 phenoCommon Duane-radial ray syndrome (DRRS) [MIM:607323] VAR_033060 commonName VAR_033060 VAR_033060 disease not phenotype-associated VAR_033061 commonName VAR_033061 VAR_033061 disease not phenotype-associated VAR_033062 commonName VAR_033062 VAR_033062 disease not phenotype-associated VAR_033063 commonName VAR_033063 VAR_033063 disease not phenotype-associated VAR_033064 commonName VAR_033064 VAR_033064 disease not phenotype-associated VAR_033065 commonName VAR_033065 VAR_033065 disease not phenotype-associated VAR_033066 commonName VAR_033066 VAR_033066 disease not phenotype-associated VAR_033067 commonName VAR_033067 VAR_033067 disease not phenotype-associated VAR_033069 commonName VAR_033069 VAR_033069 disease phenotype-associated VAR_033069 phenoCommon Larsen syndrome (LRS) [MIM:150250] VAR_033070 commonName VAR_033070 VAR_033070 disease phenotype-associated VAR_033070 phenoCommon Larsen syndrome (LRS) [MIM:150250] VAR_033071 commonName VAR_033071 VAR_033071 disease phenotype-associated VAR_033071 phenoCommon Boomerang dysplasia (BOOMD) [MIM:112310] VAR_033072 commonName VAR_033072 VAR_033072 disease phenotype-associated VAR_033072 phenoCommon Atelosteogenesis type 1 (AO1) [MIM:108720] VAR_033073 commonName VAR_033073 VAR_033073 disease phenotype-associated VAR_033073 phenoCommon Atelosteogenesis type 1 (AO1) [MIM:108720] VAR_033074 commonName VAR_033074 VAR_033074 disease phenotype-associated VAR_033074 phenoCommon Atelosteogenesis type 1 (AO1) [MIM:108720] VAR_033074 phenoCommon Atelosteogenesis type 3 (AO3) [MIM:108721] VAR_033075 commonName VAR_033075 VAR_033075 disease phenotype-associated VAR_033075 phenoCommon Larsen syndrome (LRS) [MIM:150250] VAR_033076 commonName VAR_033076 VAR_033076 disease phenotype-associated VAR_033076 phenoCommon Larsen syndrome (LRS) [MIM:150250] VAR_033077 commonName VAR_033077 VAR_033077 disease phenotype-associated VAR_033077 phenoCommon Boomerang dysplasia (BOOMD) [MIM:112310] VAR_033078 commonName VAR_033078 VAR_033078 disease phenotype-associated VAR_033078 phenoCommon Larsen syndrome (LRS) [MIM:150250] VAR_033079 commonName VAR_033079 VAR_033079 disease phenotype-associated VAR_033079 phenoCommon Larsen syndrome (LRS) [MIM:150250] VAR_033080 commonName VAR_033080 VAR_033080 disease phenotype-associated VAR_033080 phenoCommon Atelosteogenesis type 3 (AO3) [MIM:108721] VAR_033081 commonName VAR_033081 VAR_033081 disease phenotype-associated VAR_033081 phenoCommon Larsen syndrome (LRS) [MIM:150250] VAR_033083 commonName VAR_033083 VAR_033083 disease phenotype-associated VAR_033083 phenoCommon Larsen syndrome (LRS) [MIM:150250] VAR_033084 commonName VAR_033084 VAR_033084 disease phenotype-associated VAR_033084 phenoCommon Larsen syndrome (LRS) [MIM:150250] VAR_033085 commonName VAR_033085 VAR_033085 disease phenotype-associated VAR_033085 phenoCommon Larsen syndrome (LRS) [MIM:150250] VAR_033086 commonName VAR_033086 VAR_033086 disease phenotype-associated VAR_033086 phenoCommon Larsen syndrome (LRS) [MIM:150250] VAR_033087 commonName VAR_033087 VAR_033087 disease phenotype-associated VAR_033087 phenoCommon Larsen syndrome (LRS) [MIM:150250] VAR_033088 comment A hepatocellular carcinoma sample VAR_033088 commonName VAR_033088 VAR_033089 comment A hepatocellular carcinoma sample VAR_033089 commonName VAR_033089 VAR_033090 commonName VAR_033090 VAR_033091 commonName VAR_033091 VAR_033092 commonName VAR_033092 VAR_033093 commonName VAR_033093 VAR_033094 comment A hepatocellular carcinoma sample VAR_033094 commonName VAR_033094 VAR_033095 commonName VAR_033095 VAR_033096 commonName VAR_033096 VAR_033097 commonName VAR_033097 VAR_033097 disease phenotype-associated VAR_033097 phenoCommon Caffey disease (CAFFD) [MIM:114000] VAR_033098 commonName VAR_033098 VAR_033098 disease not phenotype-associated VAR_033099 commonName VAR_033099 VAR_033099 disease phenotype-associated VAR_033099 phenoCommon Hyperalphalipoproteinemia type 1 (HALP1) [MIM:143470] VAR_033100 commonName VAR_033100 VAR_033100 disease phenotype-associated VAR_033100 phenoCommon Hyperalphalipoproteinemia type 1 (HALP1) [MIM:143470] VAR_033101 commonName VAR_033101 VAR_033101 disease phenotype-associated VAR_033101 phenoCommon Hereditary neuralgic amyotrophy (HNA) [MIM:162100] VAR_033102 commonName VAR_033102 VAR_033102 disease phenotype-associated VAR_033102 phenoCommon Hereditary neuralgic amyotrophy (HNA) [MIM:162100] VAR_033103 commonName VAR_033103 VAR_033103 disease phenotype-associated VAR_033103 phenoCommon Optic atrophy type 3 (OPA3) [MIM:165300] VAR_033104 commonName VAR_033104 VAR_033104 disease phenotype-associated VAR_033104 phenoCommon Optic atrophy type 3 (OPA3) [MIM:165300] VAR_033105 commonName VAR_033105 VAR_033105 disease not phenotype-associated VAR_033106 commonName VAR_033106 VAR_033106 disease not phenotype-associated VAR_033108 commonName VAR_033108 VAR_033108 disease phenotype-associated VAR_033108 phenoCommon Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187] VAR_033109 commonName VAR_033109 VAR_033109 disease phenotype-associated VAR_033109 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600] VAR_033110 commonName VAR_033110 VAR_033110 disease phenotype-associated VAR_033110 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600] VAR_033111 commonName VAR_033111 VAR_033111 disease phenotype-associated VAR_033111 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600] VAR_033112 commonName VAR_033112 VAR_033112 disease phenotype-associated VAR_033112 phenoCommon Opitz-Kaveggia syndrome (OKS) [MIM:305450] VAR_033113 commonName VAR_033113 VAR_033113 disease phenotype-associated VAR_033113 phenoCommon Crisponi syndrome (CRISPS) [MIM:601378] VAR_033114 commonName VAR_033114 VAR_033114 disease phenotype-associated VAR_033114 phenoCommon X-linked thrombocytopenia with beta-thalassemia (XLTT) [MIM:314050] VAR_033115 commonName VAR_033115 VAR_033115 disease phenotype-associated VAR_033115 phenoCommon X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367] VAR_033116 commonName VAR_033116 VAR_033116 disease not phenotype-associated VAR_033118 commonName VAR_033118 VAR_033118 disease not phenotype-associated VAR_033119 commonName VAR_033119 VAR_033119 disease not phenotype-associated VAR_033120 commonName VAR_033120 VAR_033120 disease not phenotype-associated VAR_033121 commonName VAR_033121 VAR_033121 disease not phenotype-associated VAR_033123 commonName VAR_033123 VAR_033123 disease phenotype-associated VAR_033123 phenoCommon Gastrointestinal stromal tumor (GIST) [MIM:606764] VAR_033126 commonName VAR_033126 VAR_033126 disease phenotype-associated VAR_033126 phenoCommon Gastrointestinal stromal tumor (GIST) [MIM:606764] VAR_033127 commonName VAR_033127 VAR_033127 disease phenotype-associated VAR_033127 phenoCommon Gastrointestinal stromal tumor (GIST) [MIM:606764] VAR_033129 commonName VAR_033129 VAR_033129 disease phenotype-associated VAR_033129 phenoCommon Piebald trait (PBT) [MIM:172800] VAR_033130 commonName VAR_033130 VAR_033130 disease phenotype-associated VAR_033130 phenoCommon Piebald trait (PBT) [MIM:172800] VAR_033131 commonName VAR_033131 VAR_033131 disease phenotype-associated VAR_033131 phenoCommon Piebald trait (PBT) [MIM:172800] VAR_033132 commonName VAR_033132 VAR_033132 disease phenotype-associated VAR_033132 phenoCommon Piebald trait (PBT) [MIM:172800] VAR_033133 commonName VAR_033133 VAR_033134 comment A testicular tumor VAR_033134 commonName VAR_033134 VAR_033135 commonName VAR_033135 VAR_033136 commonName VAR_033136 VAR_033137 commonName VAR_033137 VAR_033137 disease phenotype-associated VAR_033137 phenoCommon Piebald trait (PBT) [MIM:172800] VAR_033138 comment Melanoma VAR_033138 commonName VAR_033138 VAR_033139 comment Melanoma VAR_033139 commonName VAR_033139 VAR_033140 commonName VAR_033140 VAR_033140 disease phenotype-associated VAR_033140 phenoCommon Testicular germ cell tumor (TGCT) [MIM:273300] VAR_033141 comment Melanoma VAR_033141 commonName VAR_033141 VAR_033142 commonName VAR_033142 VAR_033142 disease phenotype-associated VAR_033142 phenoCommon Peutz-Jeghers syndrome (PJS) [MIM:175200] VAR_033144 commonName VAR_033144 VAR_033144 disease phenotype-associated VAR_033144 phenoCommon Peutz-Jeghers syndrome (PJS) [MIM:175200] VAR_033145 commonName VAR_033145 VAR_033145 disease phenotype-associated VAR_033145 phenoCommon Ichthyosis annular epidermolytic (AEI) [MIM:607602] VAR_033146 commonName VAR_033146 VAR_033146 disease not phenotype-associated VAR_033147 commonName VAR_033147 VAR_033147 disease not phenotype-associated VAR_033148 commonName VAR_033148 VAR_033148 disease not phenotype-associated VAR_033150 commonName VAR_033150 VAR_033150 disease not phenotype-associated VAR_033151 commonName VAR_033151 VAR_033151 disease not phenotype-associated VAR_033152 commonName VAR_033152 VAR_033152 disease not phenotype-associated VAR_033153 commonName VAR_033153 VAR_033153 disease not phenotype-associated VAR_033154 commonName VAR_033154 VAR_033154 disease not phenotype-associated VAR_033157 commonName VAR_033157 VAR_033157 disease not phenotype-associated VAR_033158 commonName VAR_033158 VAR_033158 disease not phenotype-associated VAR_033159 commonName VAR_033159 VAR_033159 disease not phenotype-associated VAR_033160 commonName VAR_033160 VAR_033160 disease not phenotype-associated VAR_033161 commonName VAR_033161 VAR_033161 disease not phenotype-associated VAR_033162 commonName VAR_033162 VAR_033162 disease not phenotype-associated VAR_033163 commonName VAR_033163 VAR_033163 disease not phenotype-associated VAR_033164 commonName VAR_033164 VAR_033164 disease not phenotype-associated VAR_033165 commonName VAR_033165 VAR_033165 disease not phenotype-associated VAR_033166 commonName VAR_033166 VAR_033166 disease not phenotype-associated VAR_033167 commonName VAR_033167 VAR_033167 disease not phenotype-associated VAR_033168 commonName VAR_033168 VAR_033168 disease not phenotype-associated VAR_033170 commonName VAR_033170 VAR_033170 disease not phenotype-associated VAR_033171 commonName VAR_033171 VAR_033171 disease not phenotype-associated VAR_033172 commonName VAR_033172 VAR_033172 disease not phenotype-associated VAR_033173 commonName VAR_033173 VAR_033173 disease not phenotype-associated VAR_033174 commonName VAR_033174 VAR_033174 disease not phenotype-associated VAR_033175 commonName VAR_033175 VAR_033175 disease not phenotype-associated VAR_033176 commonName VAR_033176 VAR_033176 disease not phenotype-associated VAR_033177 commonName VAR_033177 VAR_033177 disease not phenotype-associated VAR_033178 commonName VAR_033178 VAR_033178 disease not phenotype-associated VAR_033179 commonName VAR_033179 VAR_033179 disease not phenotype-associated VAR_033180 commonName VAR_033180 VAR_033180 disease not phenotype-associated VAR_033181 commonName VAR_033181 VAR_033181 disease not phenotype-associated VAR_033183 commonName VAR_033183 VAR_033183 disease not phenotype-associated VAR_033184 commonName VAR_033184 VAR_033184 disease not phenotype-associated VAR_033185 commonName VAR_033185 VAR_033185 disease not phenotype-associated VAR_033186 commonName VAR_033186 VAR_033186 disease not phenotype-associated VAR_033187 commonName VAR_033187 VAR_033187 disease not phenotype-associated VAR_033188 commonName VAR_033188 VAR_033188 disease not phenotype-associated VAR_033191 commonName VAR_033191 VAR_033191 disease not phenotype-associated VAR_033192 commonName VAR_033192 VAR_033192 disease not phenotype-associated VAR_033193 commonName VAR_033193 VAR_033193 disease not phenotype-associated VAR_033194 commonName VAR_033194 VAR_033194 disease not phenotype-associated VAR_033195 commonName VAR_033195 VAR_033195 disease not phenotype-associated VAR_033196 commonName VAR_033196 VAR_033196 disease not phenotype-associated VAR_033197 commonName VAR_033197 VAR_033197 disease not phenotype-associated VAR_033198 commonName VAR_033198 VAR_033198 disease not phenotype-associated VAR_033199 commonName VAR_033199 VAR_033199 disease not phenotype-associated VAR_033200 commonName VAR_033200 VAR_033200 disease not phenotype-associated VAR_033201 commonName VAR_033201 VAR_033201 disease not phenotype-associated VAR_033202 commonName VAR_033202 VAR_033202 disease not phenotype-associated VAR_033203 commonName VAR_033203 VAR_033203 disease not phenotype-associated VAR_033204 commonName VAR_033204 VAR_033204 disease not phenotype-associated VAR_033205 commonName VAR_033205 VAR_033205 disease not phenotype-associated VAR_033207 commonName VAR_033207 VAR_033207 disease not phenotype-associated VAR_033208 commonName VAR_033208 VAR_033208 disease not phenotype-associated VAR_033209 commonName VAR_033209 VAR_033209 disease not phenotype-associated VAR_033210 commonName VAR_033210 VAR_033210 disease not phenotype-associated VAR_033211 commonName VAR_033211 VAR_033211 disease not phenotype-associated VAR_033212 commonName VAR_033212 VAR_033212 disease not phenotype-associated VAR_033213 commonName VAR_033213 VAR_033213 disease not phenotype-associated VAR_033214 commonName VAR_033214 VAR_033214 disease not phenotype-associated VAR_033215 commonName VAR_033215 VAR_033215 disease not phenotype-associated VAR_033216 commonName VAR_033216 VAR_033216 disease not phenotype-associated VAR_033217 commonName VAR_033217 VAR_033217 disease not phenotype-associated VAR_033218 commonName VAR_033218 VAR_033218 disease not phenotype-associated VAR_033219 commonName VAR_033219 VAR_033219 disease not phenotype-associated VAR_033220 commonName VAR_033220 VAR_033220 disease not phenotype-associated VAR_033221 commonName VAR_033221 VAR_033221 disease not phenotype-associated VAR_033222 commonName VAR_033222 VAR_033222 disease not phenotype-associated VAR_033223 commonName VAR_033223 VAR_033223 disease not phenotype-associated VAR_033224 commonName VAR_033224 VAR_033224 disease not phenotype-associated VAR_033225 commonName VAR_033225 VAR_033225 disease not phenotype-associated VAR_033226 commonName VAR_033226 VAR_033226 disease not phenotype-associated VAR_033227 commonName VAR_033227 VAR_033227 disease not phenotype-associated VAR_033228 commonName VAR_033228 VAR_033228 disease not phenotype-associated VAR_033229 commonName VAR_033229 VAR_033229 disease not phenotype-associated VAR_033230 commonName VAR_033230 VAR_033230 disease not phenotype-associated VAR_033231 commonName VAR_033231 VAR_033231 disease not phenotype-associated VAR_033232 commonName VAR_033232 VAR_033232 disease not phenotype-associated VAR_033233 commonName VAR_033233 VAR_033233 disease not phenotype-associated VAR_033235 commonName VAR_033235 VAR_033235 disease not phenotype-associated VAR_033237 commonName VAR_033237 VAR_033237 disease not phenotype-associated VAR_033239 commonName VAR_033239 VAR_033239 disease not phenotype-associated VAR_033240 commonName VAR_033240 VAR_033240 disease not phenotype-associated VAR_033241 commonName VAR_033241 VAR_033241 disease not phenotype-associated VAR_033242 commonName VAR_033242 VAR_033242 disease not phenotype-associated VAR_033243 commonName VAR_033243 VAR_033243 disease not phenotype-associated VAR_033245 commonName VAR_033245 VAR_033245 disease phenotype-associated VAR_033245 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800] VAR_033246 commonName VAR_033246 VAR_033246 disease phenotype-associated VAR_033246 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800] VAR_033247 commonName VAR_033247 VAR_033247 disease phenotype-associated VAR_033247 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800] VAR_033248 commonName VAR_033248 VAR_033248 disease phenotype-associated VAR_033248 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800] VAR_033249 commonName VAR_033249 VAR_033249 disease phenotype-associated VAR_033249 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800] VAR_033250 commonName VAR_033250 VAR_033250 disease phenotype-associated VAR_033250 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800] VAR_033251 commonName VAR_033251 VAR_033251 disease not phenotype-associated VAR_033252 commonName VAR_033252 VAR_033252 disease not phenotype-associated VAR_033253 commonName VAR_033253 VAR_033253 disease not phenotype-associated VAR_033254 commonName VAR_033254 VAR_033254 disease not phenotype-associated VAR_033255 commonName VAR_033255 VAR_033255 disease phenotype-associated VAR_033255 phenoCommon Thrombocytopenia type 1 (THC1) [MIM:313900] VAR_033256 commonName VAR_033256 VAR_033256 disease phenotype-associated VAR_033256 phenoCommon Neutropenia severe congenital X-linked (XLN) [MIM:300299] VAR_033257 commonName VAR_033257 VAR_033257 disease phenotype-associated VAR_033257 phenoCommon Thrombocytopenia type 1 (THC1) [MIM:313900] VAR_033260 commonName VAR_033260 VAR_033260 disease phenotype-associated VAR_033260 phenoCommon Lissencephaly X-linked type 2 (LISX2) [MIM:300215] VAR_033261 commonName VAR_033261 VAR_033261 disease phenotype-associated VAR_033261 phenoCommon Agenesis of the corpus callosum with abnormal genitalia (ACCAG) [MIM:300004] VAR_033262 commonName VAR_033262 VAR_033262 disease phenotype-associated VAR_033262 phenoCommon Lissencephaly X-linked type 2 (LISX2) [MIM:300215] VAR_033263 commonName VAR_033263 VAR_033263 disease phenotype-associated VAR_033263 phenoCommon Lissencephaly X-linked type 2 (LISX2) [MIM:300215] VAR_033264 commonName VAR_033264 VAR_033264 disease not phenotype-associated VAR_033265 commonName VAR_033265 VAR_033265 disease not phenotype-associated VAR_033266 commonName VAR_033266 VAR_033266 disease not phenotype-associated VAR_033267 commonName VAR_033267 VAR_033267 disease not phenotype-associated VAR_033268 commonName VAR_033268 VAR_033268 disease not phenotype-associated VAR_033269 commonName VAR_033269 VAR_033269 disease not phenotype-associated VAR_033270 commonName VAR_033270 VAR_033270 disease not phenotype-associated VAR_033271 commonName VAR_033271 VAR_033271 disease not phenotype-associated VAR_033272 commonName VAR_033272 VAR_033272 disease not phenotype-associated VAR_033273 commonName VAR_033273 VAR_033273 disease not phenotype-associated VAR_033274 commonName VAR_033274 VAR_033274 disease not phenotype-associated VAR_033275 commonName VAR_033275 VAR_033275 disease not phenotype-associated VAR_033276 commonName VAR_033276 VAR_033276 disease not phenotype-associated VAR_033277 commonName VAR_033277 VAR_033277 disease not phenotype-associated VAR_033278 commonName VAR_033278 VAR_033278 disease not phenotype-associated VAR_033279 commonName VAR_033279 VAR_033279 disease not phenotype-associated VAR_033280 commonName VAR_033280 VAR_033280 disease not phenotype-associated VAR_033281 commonName VAR_033281 VAR_033281 disease not phenotype-associated VAR_033282 commonName VAR_033282 VAR_033282 disease not phenotype-associated VAR_033283 commonName VAR_033283 VAR_033283 disease not phenotype-associated VAR_033284 commonName VAR_033284 VAR_033284 disease not phenotype-associated VAR_033285 commonName VAR_033285 VAR_033285 disease not phenotype-associated VAR_033286 commonName VAR_033286 VAR_033286 disease not phenotype-associated VAR_033287 commonName VAR_033287 VAR_033287 disease not phenotype-associated VAR_033288 commonName VAR_033288 VAR_033288 disease not phenotype-associated VAR_033289 commonName VAR_033289 VAR_033289 disease not phenotype-associated VAR_033290 commonName VAR_033290 VAR_033290 disease not phenotype-associated VAR_033291 commonName VAR_033291 VAR_033291 disease not phenotype-associated VAR_033292 commonName VAR_033292 VAR_033292 disease not phenotype-associated VAR_033293 commonName VAR_033293 VAR_033293 disease not phenotype-associated VAR_033294 commonName VAR_033294 VAR_033294 disease not phenotype-associated VAR_033295 commonName VAR_033295 VAR_033295 disease not phenotype-associated VAR_033296 commonName VAR_033296 VAR_033296 disease not phenotype-associated VAR_033297 commonName VAR_033297 VAR_033297 disease not phenotype-associated VAR_033298 commonName VAR_033298 VAR_033298 disease not phenotype-associated VAR_033299 commonName VAR_033299 VAR_033299 disease not phenotype-associated VAR_033300 commonName VAR_033300 VAR_033300 disease not phenotype-associated VAR_033301 commonName VAR_033301 VAR_033301 disease not phenotype-associated VAR_033302 commonName VAR_033302 VAR_033302 disease not phenotype-associated VAR_033303 commonName VAR_033303 VAR_033303 disease not phenotype-associated VAR_033304 commonName VAR_033304 VAR_033304 disease not phenotype-associated VAR_033305 commonName VAR_033305 VAR_033305 disease not phenotype-associated VAR_033306 commonName VAR_033306 VAR_033306 disease not phenotype-associated VAR_033307 commonName VAR_033307 VAR_033307 disease not phenotype-associated VAR_033308 commonName VAR_033308 VAR_033308 disease not phenotype-associated VAR_033309 commonName VAR_033309 VAR_033309 disease not phenotype-associated VAR_033310 commonName VAR_033310 VAR_033310 disease not phenotype-associated VAR_033311 commonName VAR_033311 VAR_033311 disease not phenotype-associated VAR_033312 commonName VAR_033312 VAR_033312 disease not phenotype-associated VAR_033314 commonName VAR_033314 VAR_033314 disease not phenotype-associated VAR_033315 commonName VAR_033315 VAR_033315 disease not phenotype-associated VAR_033316 commonName VAR_033316 VAR_033316 disease not phenotype-associated VAR_033317 commonName VAR_033317 VAR_033317 disease not phenotype-associated VAR_033318 commonName VAR_033318 VAR_033318 disease not phenotype-associated VAR_033319 commonName VAR_033319 VAR_033319 disease not phenotype-associated VAR_033320 commonName VAR_033320 VAR_033320 disease not phenotype-associated VAR_033321 commonName VAR_033321 VAR_033321 disease not phenotype-associated VAR_033322 commonName VAR_033322 VAR_033322 disease not phenotype-associated VAR_033323 commonName VAR_033323 VAR_033323 disease not phenotype-associated VAR_033324 commonName VAR_033324 VAR_033324 disease not phenotype-associated VAR_033325 commonName VAR_033325 VAR_033325 disease not phenotype-associated VAR_033326 commonName VAR_033326 VAR_033326 disease not phenotype-associated VAR_033327 commonName VAR_033327 VAR_033327 disease not phenotype-associated VAR_033328 commonName VAR_033328 VAR_033328 disease not phenotype-associated VAR_033329 commonName VAR_033329 VAR_033329 disease not phenotype-associated VAR_033330 commonName VAR_033330 VAR_033330 disease not phenotype-associated VAR_033331 commonName VAR_033331 VAR_033331 disease not phenotype-associated VAR_033332 commonName VAR_033332 VAR_033332 disease not phenotype-associated VAR_033334 commonName VAR_033334 VAR_033334 disease not phenotype-associated VAR_033335 commonName VAR_033335 VAR_033335 disease not phenotype-associated VAR_033336 commonName VAR_033336 VAR_033336 disease not phenotype-associated VAR_033337 commonName VAR_033337 VAR_033337 disease not phenotype-associated VAR_033341 commonName VAR_033341 VAR_033341 disease not phenotype-associated VAR_033342 commonName VAR_033342 VAR_033342 disease not phenotype-associated VAR_033343 commonName VAR_033343 VAR_033343 disease not phenotype-associated VAR_033344 commonName VAR_033344 VAR_033344 disease not phenotype-associated VAR_033345 commonName VAR_033345 VAR_033345 disease not phenotype-associated VAR_033346 commonName VAR_033346 VAR_033346 disease not phenotype-associated VAR_033347 commonName VAR_033347 VAR_033347 disease not phenotype-associated VAR_033348 commonName VAR_033348 VAR_033348 disease not phenotype-associated VAR_033349 commonName VAR_033349 VAR_033349 disease not phenotype-associated VAR_033353 commonName VAR_033353 VAR_033353 disease not phenotype-associated VAR_033354 commonName VAR_033354 VAR_033354 disease not phenotype-associated VAR_033355 commonName VAR_033355 VAR_033355 disease not phenotype-associated VAR_033356 commonName VAR_033356 VAR_033356 disease not phenotype-associated VAR_033357 commonName VAR_033357 VAR_033357 disease not phenotype-associated VAR_033358 commonName VAR_033358 VAR_033358 disease not phenotype-associated VAR_033359 commonName VAR_033359 VAR_033359 disease not phenotype-associated VAR_033360 commonName VAR_033360 VAR_033360 disease not phenotype-associated VAR_033361 commonName VAR_033361 VAR_033361 disease not phenotype-associated VAR_033362 commonName VAR_033362 VAR_033362 disease not phenotype-associated VAR_033363 commonName VAR_033363 VAR_033363 disease not phenotype-associated VAR_033364 commonName VAR_033364 VAR_033364 disease not phenotype-associated VAR_033365 commonName VAR_033365 VAR_033365 disease not phenotype-associated VAR_033366 commonName VAR_033366 VAR_033366 disease not phenotype-associated VAR_033367 commonName VAR_033367 VAR_033367 disease not phenotype-associated VAR_033370 commonName VAR_033370 VAR_033370 disease phenotype-associated VAR_033370 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150] VAR_033371 commonName VAR_033371 VAR_033371 disease phenotype-associated VAR_033371 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150] VAR_033372 commonName VAR_033372 VAR_033372 disease not phenotype-associated VAR_033373 commonName VAR_033373 VAR_033373 disease not phenotype-associated VAR_033376 commonName VAR_033376 VAR_033376 disease not phenotype-associated VAR_033449 commonName VAR_033449 VAR_033449 disease not phenotype-associated VAR_033450 commonName VAR_033450 VAR_033450 disease not phenotype-associated VAR_033451 commonName VAR_033451 VAR_033451 disease not phenotype-associated VAR_033452 commonName VAR_033452 VAR_033452 disease not phenotype-associated VAR_033453 commonName VAR_033453 VAR_033453 disease not phenotype-associated VAR_033454 commonName VAR_033454 VAR_033454 disease not phenotype-associated VAR_033455 commonName VAR_033455 VAR_033455 disease not phenotype-associated VAR_033456 commonName VAR_033456 VAR_033456 disease not phenotype-associated VAR_033457 commonName VAR_033457 VAR_033457 disease not phenotype-associated VAR_033458 commonName VAR_033458 VAR_033458 disease not phenotype-associated VAR_033460 commonName VAR_033460 VAR_033460 disease not phenotype-associated VAR_033461 commonName VAR_033461 VAR_033461 disease not phenotype-associated VAR_033462 commonName VAR_033462 VAR_033462 disease not phenotype-associated VAR_033463 commonName VAR_033463 VAR_033463 disease not phenotype-associated VAR_033464 commonName VAR_033464 VAR_033464 disease not phenotype-associated VAR_033465 commonName VAR_033465 VAR_033465 disease not phenotype-associated VAR_033466 commonName VAR_033466 VAR_033466 disease not phenotype-associated VAR_033467 commonName VAR_033467 VAR_033467 disease not phenotype-associated VAR_033468 commonName VAR_033468 VAR_033468 disease not phenotype-associated VAR_033469 commonName VAR_033469 VAR_033469 disease not phenotype-associated VAR_033470 commonName VAR_033470 VAR_033470 disease not phenotype-associated VAR_033471 commonName VAR_033471 VAR_033471 disease not phenotype-associated VAR_033472 commonName VAR_033472 VAR_033472 disease not phenotype-associated VAR_033473 commonName VAR_033473 VAR_033473 disease not phenotype-associated VAR_033474 commonName VAR_033474 VAR_033474 disease not phenotype-associated VAR_033475 commonName VAR_033475 VAR_033475 disease not phenotype-associated VAR_033476 commonName VAR_033476 VAR_033476 disease not phenotype-associated VAR_033477 commonName VAR_033477 VAR_033477 disease not phenotype-associated VAR_033478 commonName VAR_033478 VAR_033478 disease not phenotype-associated VAR_033479 commonName VAR_033479 VAR_033479 disease not phenotype-associated VAR_033480 commonName VAR_033480 VAR_033480 disease not phenotype-associated VAR_033481 commonName VAR_033481 VAR_033481 disease not phenotype-associated VAR_033482 commonName VAR_033482 VAR_033482 disease not phenotype-associated VAR_033483 commonName VAR_033483 VAR_033483 disease not phenotype-associated VAR_033484 commonName VAR_033484 VAR_033484 disease not phenotype-associated VAR_033485 commonName VAR_033485 VAR_033485 disease not phenotype-associated VAR_033486 commonName VAR_033486 VAR_033486 disease not phenotype-associated VAR_033487 commonName VAR_033487 VAR_033487 disease not phenotype-associated VAR_033489 commonName VAR_033489 VAR_033489 disease not phenotype-associated VAR_033490 commonName VAR_033490 VAR_033490 disease not phenotype-associated VAR_033491 commonName VAR_033491 VAR_033491 disease not phenotype-associated VAR_033492 commonName VAR_033492 VAR_033492 disease not phenotype-associated VAR_033494 commonName VAR_033494 VAR_033494 disease not phenotype-associated VAR_033495 commonName VAR_033495 VAR_033495 disease not phenotype-associated VAR_033496 commonName VAR_033496 VAR_033496 disease not phenotype-associated VAR_033497 commonName VAR_033497 VAR_033497 disease not phenotype-associated VAR_033498 commonName VAR_033498 VAR_033498 disease not phenotype-associated VAR_033499 commonName VAR_033499 VAR_033499 disease not phenotype-associated VAR_033500 commonName VAR_033500 VAR_033500 disease not phenotype-associated VAR_033501 commonName VAR_033501 VAR_033501 disease not phenotype-associated VAR_033503 commonName VAR_033503 VAR_033503 disease not phenotype-associated VAR_033504 commonName VAR_033504 VAR_033504 disease not phenotype-associated VAR_033505 commonName VAR_033505 VAR_033505 disease not phenotype-associated VAR_033507 commonName VAR_033507 VAR_033507 disease not phenotype-associated VAR_033508 commonName VAR_033508 VAR_033508 disease not phenotype-associated VAR_033509 commonName VAR_033509 VAR_033509 disease not phenotype-associated VAR_033512 commonName VAR_033512 VAR_033512 disease not phenotype-associated VAR_033513 commonName VAR_033513 VAR_033513 disease not phenotype-associated VAR_033515 commonName VAR_033515 VAR_033515 disease not phenotype-associated VAR_033516 commonName VAR_033516 VAR_033516 disease not phenotype-associated VAR_033517 commonName VAR_033517 VAR_033517 disease not phenotype-associated VAR_033518 commonName VAR_033518 VAR_033518 disease not phenotype-associated VAR_033519 commonName VAR_033519 VAR_033519 disease not phenotype-associated VAR_033520 commonName VAR_033520 VAR_033520 disease not phenotype-associated VAR_033521 commonName VAR_033521 VAR_033521 disease not phenotype-associated VAR_033522 commonName VAR_033522 VAR_033522 disease not phenotype-associated VAR_033523 commonName VAR_033523 VAR_033523 disease not phenotype-associated VAR_033525 commonName VAR_033525 VAR_033525 disease not phenotype-associated VAR_033526 commonName VAR_033526 VAR_033526 disease not phenotype-associated VAR_033527 commonName VAR_033527 VAR_033527 disease not phenotype-associated VAR_033528 commonName VAR_033528 VAR_033528 disease not phenotype-associated VAR_033529 commonName VAR_033529 VAR_033529 disease not phenotype-associated VAR_033530 commonName VAR_033530 VAR_033530 disease not phenotype-associated VAR_033531 commonName VAR_033531 VAR_033531 disease not phenotype-associated VAR_033532 commonName VAR_033532 VAR_033532 disease not phenotype-associated VAR_033533 commonName VAR_033533 VAR_033533 disease not phenotype-associated VAR_033534 commonName VAR_033534 VAR_033534 disease not phenotype-associated VAR_033535 commonName VAR_033535 VAR_033535 disease not phenotype-associated VAR_033536 commonName VAR_033536 VAR_033536 disease not phenotype-associated VAR_033537 commonName VAR_033537 VAR_033537 disease not phenotype-associated VAR_033538 commonName VAR_033538 VAR_033538 disease not phenotype-associated VAR_033539 commonName VAR_033539 VAR_033539 disease not phenotype-associated VAR_033542 commonName VAR_033542 VAR_033542 disease not phenotype-associated VAR_033543 commonName VAR_033543 VAR_033543 disease not phenotype-associated VAR_033544 commonName VAR_033544 VAR_033544 disease not phenotype-associated VAR_033545 commonName VAR_033545 VAR_033545 disease not phenotype-associated VAR_033546 commonName VAR_033546 VAR_033546 disease not phenotype-associated VAR_033547 commonName VAR_033547 VAR_033547 disease not phenotype-associated VAR_033549 commonName VAR_033549 VAR_033549 disease not phenotype-associated VAR_033550 commonName VAR_033550 VAR_033550 disease not phenotype-associated VAR_033551 commonName VAR_033551 VAR_033551 disease not phenotype-associated VAR_033552 commonName VAR_033552 VAR_033552 disease not phenotype-associated VAR_033553 commonName VAR_033553 VAR_033553 disease not phenotype-associated VAR_033554 commonName VAR_033554 VAR_033554 disease not phenotype-associated VAR_033555 commonName VAR_033555 VAR_033555 disease not phenotype-associated VAR_033557 commonName VAR_033557 VAR_033557 disease not phenotype-associated VAR_033558 commonName VAR_033558 VAR_033558 disease not phenotype-associated VAR_033559 commonName VAR_033559 VAR_033559 disease not phenotype-associated VAR_033560 commonName VAR_033560 VAR_033560 disease not phenotype-associated VAR_033561 commonName VAR_033561 VAR_033561 disease not phenotype-associated VAR_033562 commonName VAR_033562 VAR_033562 disease not phenotype-associated VAR_033563 commonName VAR_033563 VAR_033563 disease not phenotype-associated VAR_033564 commonName VAR_033564 VAR_033564 disease not phenotype-associated VAR_033565 commonName VAR_033565 VAR_033565 disease not phenotype-associated VAR_033566 commonName VAR_033566 VAR_033566 disease not phenotype-associated VAR_033567 commonName VAR_033567 VAR_033567 disease not phenotype-associated VAR_033568 commonName VAR_033568 VAR_033568 disease not phenotype-associated VAR_033569 commonName VAR_033569 VAR_033569 disease not phenotype-associated VAR_033570 commonName VAR_033570 VAR_033570 disease not phenotype-associated VAR_033571 commonName VAR_033571 VAR_033571 disease not phenotype-associated VAR_033572 commonName VAR_033572 VAR_033572 disease not phenotype-associated VAR_033573 commonName VAR_033573 VAR_033573 disease not phenotype-associated VAR_033574 commonName VAR_033574 VAR_033574 disease not phenotype-associated VAR_033575 commonName VAR_033575 VAR_033575 disease not phenotype-associated VAR_033576 commonName VAR_033576 VAR_033576 disease not phenotype-associated VAR_033577 commonName VAR_033577 VAR_033577 disease not phenotype-associated VAR_033578 commonName VAR_033578 VAR_033578 disease not phenotype-associated VAR_033579 commonName VAR_033579 VAR_033579 disease not phenotype-associated VAR_033580 commonName VAR_033580 VAR_033580 disease not phenotype-associated VAR_033581 commonName VAR_033581 VAR_033581 disease not phenotype-associated VAR_033582 commonName VAR_033582 VAR_033582 disease not phenotype-associated VAR_033583 commonName VAR_033583 VAR_033583 disease not phenotype-associated VAR_033584 commonName VAR_033584 VAR_033584 disease not phenotype-associated VAR_033585 commonName VAR_033585 VAR_033585 disease not phenotype-associated VAR_033586 commonName VAR_033586 VAR_033586 disease not phenotype-associated VAR_033587 commonName VAR_033587 VAR_033587 disease not phenotype-associated VAR_033588 commonName VAR_033588 VAR_033588 disease not phenotype-associated VAR_033589 commonName VAR_033589 VAR_033589 disease not phenotype-associated VAR_033590 commonName VAR_033590 VAR_033590 disease not phenotype-associated VAR_033591 commonName VAR_033591 VAR_033591 disease not phenotype-associated VAR_033592 commonName VAR_033592 VAR_033592 disease not phenotype-associated VAR_033593 commonName VAR_033593 VAR_033593 disease not phenotype-associated VAR_033594 commonName VAR_033594 VAR_033594 disease not phenotype-associated VAR_033595 commonName VAR_033595 VAR_033595 disease not phenotype-associated VAR_033596 commonName VAR_033596 VAR_033596 disease not phenotype-associated VAR_033597 commonName VAR_033597 VAR_033597 disease not phenotype-associated VAR_033598 commonName VAR_033598 VAR_033598 disease not phenotype-associated VAR_033599 commonName VAR_033599 VAR_033599 disease not phenotype-associated VAR_033608 commonName VAR_033608 VAR_033608 disease not phenotype-associated VAR_033611 commonName VAR_033611 VAR_033611 disease not phenotype-associated VAR_033613 commonName VAR_033613 VAR_033613 disease not phenotype-associated VAR_033614 commonName VAR_033614 VAR_033614 disease not phenotype-associated VAR_033615 commonName VAR_033615 VAR_033615 disease not phenotype-associated VAR_033616 commonName VAR_033616 VAR_033616 disease not phenotype-associated VAR_033617 commonName VAR_033617 VAR_033617 disease not phenotype-associated VAR_033618 commonName VAR_033618 VAR_033618 disease not phenotype-associated VAR_033620 commonName VAR_033620 VAR_033620 disease not phenotype-associated VAR_033621 commonName VAR_033621 VAR_033621 disease not phenotype-associated VAR_033622 commonName VAR_033622 VAR_033622 disease not phenotype-associated VAR_033623 commonName VAR_033623 VAR_033623 disease not phenotype-associated VAR_033624 commonName VAR_033624 VAR_033624 disease not phenotype-associated VAR_033625 commonName VAR_033625 VAR_033625 disease not phenotype-associated VAR_033626 commonName VAR_033626 VAR_033626 disease not phenotype-associated VAR_033627 commonName VAR_033627 VAR_033627 disease not phenotype-associated VAR_033630 commonName VAR_033630 VAR_033630 disease not phenotype-associated VAR_033631 commonName VAR_033631 VAR_033631 disease not phenotype-associated VAR_033632 commonName VAR_033632 VAR_033632 disease not phenotype-associated VAR_033633 commonName VAR_033633 VAR_033633 disease not phenotype-associated VAR_033634 commonName VAR_033634 VAR_033634 disease not phenotype-associated VAR_033635 commonName VAR_033635 VAR_033635 disease not phenotype-associated VAR_033636 commonName VAR_033636 VAR_033636 disease not phenotype-associated VAR_033637 commonName VAR_033637 VAR_033637 disease not phenotype-associated VAR_033638 commonName VAR_033638 VAR_033638 disease not phenotype-associated VAR_033639 commonName VAR_033639 VAR_033639 disease not phenotype-associated VAR_033640 commonName VAR_033640 VAR_033640 disease not phenotype-associated VAR_033641 commonName VAR_033641 VAR_033641 disease not phenotype-associated VAR_033642 commonName VAR_033642 VAR_033642 disease not phenotype-associated VAR_033643 commonName VAR_033643 VAR_033643 disease not phenotype-associated VAR_033644 commonName VAR_033644 VAR_033644 disease not phenotype-associated VAR_033645 commonName VAR_033645 VAR_033645 disease not phenotype-associated VAR_033646 commonName VAR_033646 VAR_033646 disease not phenotype-associated VAR_033647 commonName VAR_033647 VAR_033647 disease not phenotype-associated VAR_033648 commonName VAR_033648 VAR_033648 disease not phenotype-associated VAR_033649 commonName VAR_033649 VAR_033649 disease not phenotype-associated VAR_033650 commonName VAR_033650 VAR_033650 disease not phenotype-associated VAR_033651 commonName VAR_033651 VAR_033651 disease not phenotype-associated VAR_033652 commonName VAR_033652 VAR_033652 disease not phenotype-associated VAR_033653 commonName VAR_033653 VAR_033653 disease not phenotype-associated VAR_033654 commonName VAR_033654 VAR_033654 disease not phenotype-associated VAR_033655 commonName VAR_033655 VAR_033655 disease not phenotype-associated VAR_033656 commonName VAR_033656 VAR_033656 disease not phenotype-associated VAR_033657 commonName VAR_033657 VAR_033657 disease not phenotype-associated VAR_033658 commonName VAR_033658 VAR_033658 disease not phenotype-associated VAR_033659 commonName VAR_033659 VAR_033659 disease not phenotype-associated VAR_033660 commonName VAR_033660 VAR_033660 disease not phenotype-associated VAR_033661 commonName VAR_033661 VAR_033661 disease not phenotype-associated VAR_033662 commonName VAR_033662 VAR_033662 disease not phenotype-associated VAR_033663 commonName VAR_033663 VAR_033663 disease not phenotype-associated VAR_033664 commonName VAR_033664 VAR_033664 disease not phenotype-associated VAR_033665 commonName VAR_033665 VAR_033665 disease not phenotype-associated VAR_033666 commonName VAR_033666 VAR_033666 disease not phenotype-associated VAR_033667 commonName VAR_033667 VAR_033667 disease not phenotype-associated VAR_033668 commonName VAR_033668 VAR_033668 disease not phenotype-associated VAR_033669 commonName VAR_033669 VAR_033669 disease not phenotype-associated VAR_033670 commonName VAR_033670 VAR_033670 disease not phenotype-associated VAR_033671 commonName VAR_033671 VAR_033671 disease not phenotype-associated VAR_033672 commonName VAR_033672 VAR_033672 disease not phenotype-associated VAR_033673 commonName VAR_033673 VAR_033673 disease not phenotype-associated VAR_033674 commonName VAR_033674 VAR_033674 disease not phenotype-associated VAR_033675 commonName VAR_033675 VAR_033675 disease not phenotype-associated VAR_033676 commonName VAR_033676 VAR_033676 disease not phenotype-associated VAR_033677 commonName VAR_033677 VAR_033677 disease not phenotype-associated VAR_033678 commonName VAR_033678 VAR_033678 disease not phenotype-associated VAR_033679 commonName VAR_033679 VAR_033679 disease not phenotype-associated VAR_033680 commonName VAR_033680 VAR_033680 disease not phenotype-associated VAR_033681 commonName VAR_033681 VAR_033681 disease not phenotype-associated VAR_033683 commonName VAR_033683 VAR_033683 disease not phenotype-associated VAR_033684 commonName VAR_033684 VAR_033684 disease not phenotype-associated VAR_033685 commonName VAR_033685 VAR_033685 disease not phenotype-associated VAR_033686 commonName VAR_033686 VAR_033686 disease not phenotype-associated VAR_033687 commonName VAR_033687 VAR_033687 disease not phenotype-associated VAR_033688 commonName VAR_033688 VAR_033688 disease not phenotype-associated VAR_033689 commonName VAR_033689 VAR_033689 disease not phenotype-associated VAR_033690 commonName VAR_033690 VAR_033690 disease not phenotype-associated VAR_033691 commonName VAR_033691 VAR_033691 disease not phenotype-associated VAR_033692 commonName VAR_033692 VAR_033692 disease not phenotype-associated VAR_033693 commonName VAR_033693 VAR_033693 disease not phenotype-associated VAR_033694 commonName VAR_033694 VAR_033694 disease not phenotype-associated VAR_033695 commonName VAR_033695 VAR_033695 disease not phenotype-associated VAR_033696 commonName VAR_033696 VAR_033696 disease not phenotype-associated VAR_033697 commonName VAR_033697 VAR_033697 disease not phenotype-associated VAR_033698 commonName VAR_033698 VAR_033698 disease not phenotype-associated VAR_033699 commonName VAR_033699 VAR_033699 disease not phenotype-associated VAR_033700 commonName VAR_033700 VAR_033700 disease not phenotype-associated VAR_033703 commonName VAR_033703 VAR_033703 disease not phenotype-associated VAR_033704 commonName VAR_033704 VAR_033704 disease not phenotype-associated VAR_033705 commonName VAR_033705 VAR_033705 disease not phenotype-associated VAR_033706 commonName VAR_033706 VAR_033706 disease not phenotype-associated VAR_033707 commonName VAR_033707 VAR_033707 disease not phenotype-associated VAR_033708 commonName VAR_033708 VAR_033708 disease not phenotype-associated VAR_033709 commonName VAR_033709 VAR_033709 disease not phenotype-associated VAR_033710 commonName VAR_033710 VAR_033710 disease not phenotype-associated VAR_033711 commonName VAR_033711 VAR_033711 disease not phenotype-associated VAR_033712 commonName VAR_033712 VAR_033712 disease not phenotype-associated VAR_033713 commonName VAR_033713 VAR_033713 disease not phenotype-associated VAR_033714 commonName VAR_033714 VAR_033714 disease not phenotype-associated VAR_033715 commonName VAR_033715 VAR_033715 disease not phenotype-associated VAR_033716 commonName VAR_033716 VAR_033716 disease not phenotype-associated VAR_033717 commonName VAR_033717 VAR_033717 disease not phenotype-associated VAR_033718 commonName VAR_033718 VAR_033718 disease not phenotype-associated VAR_033721 commonName VAR_033721 VAR_033721 disease not phenotype-associated VAR_033722 commonName VAR_033722 VAR_033722 disease not phenotype-associated VAR_033723 commonName VAR_033723 VAR_033723 disease not phenotype-associated VAR_033724 commonName VAR_033724 VAR_033724 disease not phenotype-associated VAR_033725 commonName VAR_033725 VAR_033725 disease not phenotype-associated VAR_033727 commonName VAR_033727 VAR_033727 disease not phenotype-associated VAR_033728 commonName VAR_033728 VAR_033728 disease not phenotype-associated VAR_033729 commonName VAR_033729 VAR_033729 disease not phenotype-associated VAR_033731 commonName VAR_033731 VAR_033731 disease not phenotype-associated VAR_033732 commonName VAR_033732 VAR_033732 disease not phenotype-associated VAR_033733 commonName VAR_033733 VAR_033733 disease not phenotype-associated VAR_033734 commonName VAR_033734 VAR_033734 disease not phenotype-associated VAR_033735 commonName VAR_033735 VAR_033735 disease not phenotype-associated VAR_033736 commonName VAR_033736 VAR_033736 disease not phenotype-associated VAR_033737 commonName VAR_033737 VAR_033737 disease not phenotype-associated VAR_033738 commonName VAR_033738 VAR_033738 disease not phenotype-associated VAR_033739 commonName VAR_033739 VAR_033739 disease not phenotype-associated VAR_033740 commonName VAR_033740 VAR_033740 disease not phenotype-associated VAR_033742 commonName VAR_033742 VAR_033742 disease not phenotype-associated VAR_033743 commonName VAR_033743 VAR_033743 disease not phenotype-associated VAR_033744 commonName VAR_033744 VAR_033744 disease not phenotype-associated VAR_033745 commonName VAR_033745 VAR_033745 disease not phenotype-associated VAR_033746 commonName VAR_033746 VAR_033746 disease not phenotype-associated VAR_033747 commonName VAR_033747 VAR_033747 disease not phenotype-associated VAR_033748 commonName VAR_033748 VAR_033748 disease not phenotype-associated VAR_033749 commonName VAR_033749 VAR_033749 disease not phenotype-associated VAR_033750 commonName VAR_033750 VAR_033750 disease not phenotype-associated VAR_033751 commonName VAR_033751 VAR_033751 disease not phenotype-associated VAR_033752 commonName VAR_033752 VAR_033752 disease not phenotype-associated VAR_033754 commonName VAR_033754 VAR_033754 disease not phenotype-associated VAR_033755 commonName VAR_033755 VAR_033755 disease not phenotype-associated VAR_033756 commonName VAR_033756 VAR_033756 disease not phenotype-associated VAR_033757 commonName VAR_033757 VAR_033757 disease not phenotype-associated VAR_033758 commonName VAR_033758 VAR_033758 disease not phenotype-associated VAR_033759 commonName VAR_033759 VAR_033759 disease not phenotype-associated VAR_033760 commonName VAR_033760 VAR_033760 disease not phenotype-associated VAR_033761 commonName VAR_033761 VAR_033761 disease not phenotype-associated VAR_033762 commonName VAR_033762 VAR_033762 disease not phenotype-associated VAR_033763 commonName VAR_033763 VAR_033763 disease not phenotype-associated VAR_033765 commonName VAR_033765 VAR_033765 disease not phenotype-associated VAR_033766 commonName VAR_033766 VAR_033766 disease not phenotype-associated VAR_033767 commonName VAR_033767 VAR_033767 disease not phenotype-associated VAR_033768 commonName VAR_033768 VAR_033768 disease not phenotype-associated VAR_033769 commonName VAR_033769 VAR_033769 disease not phenotype-associated VAR_033770 commonName VAR_033770 VAR_033770 disease not phenotype-associated VAR_033771 commonName VAR_033771 VAR_033771 disease not phenotype-associated VAR_033772 commonName VAR_033772 VAR_033772 disease not phenotype-associated VAR_033773 commonName VAR_033773 VAR_033773 disease not phenotype-associated VAR_033774 commonName VAR_033774 VAR_033774 disease not phenotype-associated VAR_033775 commonName VAR_033775 VAR_033775 disease not phenotype-associated VAR_033776 commonName VAR_033776 VAR_033776 disease not phenotype-associated VAR_033777 commonName VAR_033777 VAR_033777 disease not phenotype-associated VAR_033778 commonName VAR_033778 VAR_033778 disease not phenotype-associated VAR_033779 commonName VAR_033779 VAR_033779 disease not phenotype-associated VAR_033780 commonName VAR_033780 VAR_033780 disease not phenotype-associated VAR_033781 commonName VAR_033781 VAR_033781 disease not phenotype-associated VAR_033782 commonName VAR_033782 VAR_033782 disease not phenotype-associated VAR_033783 commonName VAR_033783 VAR_033783 disease not phenotype-associated VAR_033784 commonName VAR_033784 VAR_033784 disease not phenotype-associated VAR_033785 commonName VAR_033785 VAR_033785 disease not phenotype-associated VAR_033786 commonName VAR_033786 VAR_033786 disease not phenotype-associated VAR_033787 commonName VAR_033787 VAR_033787 disease not phenotype-associated VAR_033788 commonName VAR_033788 VAR_033788 disease not phenotype-associated VAR_033789 commonName VAR_033789 VAR_033789 disease not phenotype-associated VAR_033790 commonName VAR_033790 VAR_033790 disease not phenotype-associated VAR_033791 commonName VAR_033791 VAR_033791 disease not phenotype-associated VAR_033792 commonName VAR_033792 VAR_033792 disease not phenotype-associated VAR_033793 commonName VAR_033793 VAR_033793 disease not phenotype-associated VAR_033794 commonName VAR_033794 VAR_033794 disease not phenotype-associated VAR_033795 commonName VAR_033795 VAR_033795 disease not phenotype-associated VAR_033796 commonName VAR_033796 VAR_033796 disease not phenotype-associated VAR_033798 commonName VAR_033798 VAR_033798 disease not phenotype-associated VAR_033799 commonName VAR_033799 VAR_033799 disease not phenotype-associated VAR_033800 commonName VAR_033800 VAR_033800 disease not phenotype-associated VAR_033801 commonName VAR_033801 VAR_033801 disease not phenotype-associated VAR_033802 commonName VAR_033802 VAR_033802 disease not phenotype-associated VAR_033803 commonName VAR_033803 VAR_033803 disease not phenotype-associated VAR_033804 commonName VAR_033804 VAR_033804 disease not phenotype-associated VAR_033805 commonName VAR_033805 VAR_033805 disease not phenotype-associated VAR_033806 commonName VAR_033806 VAR_033806 disease not phenotype-associated VAR_033807 commonName VAR_033807 VAR_033807 disease not phenotype-associated VAR_033808 commonName VAR_033808 VAR_033808 disease not phenotype-associated VAR_033809 commonName VAR_033809 VAR_033809 disease not phenotype-associated VAR_033810 commonName VAR_033810 VAR_033810 disease not phenotype-associated VAR_033811 commonName VAR_033811 VAR_033811 disease not phenotype-associated VAR_033812 commonName VAR_033812 VAR_033812 disease not phenotype-associated VAR_033813 commonName VAR_033813 VAR_033813 disease not phenotype-associated VAR_033814 commonName VAR_033814 VAR_033814 disease not phenotype-associated VAR_033815 commonName VAR_033815 VAR_033815 disease not phenotype-associated VAR_033816 commonName VAR_033816 VAR_033816 disease not phenotype-associated VAR_033817 commonName VAR_033817 VAR_033817 disease not phenotype-associated VAR_033818 commonName VAR_033818 VAR_033818 disease not phenotype-associated VAR_033819 commonName VAR_033819 VAR_033819 disease not phenotype-associated VAR_033820 commonName VAR_033820 VAR_033820 disease not phenotype-associated VAR_033821 commonName VAR_033821 VAR_033821 disease not phenotype-associated VAR_033822 commonName VAR_033822 VAR_033822 disease not phenotype-associated VAR_033823 commonName VAR_033823 VAR_033823 disease not phenotype-associated VAR_033824 commonName VAR_033824 VAR_033824 disease not phenotype-associated VAR_033825 commonName VAR_033825 VAR_033825 disease not phenotype-associated VAR_033826 commonName VAR_033826 VAR_033826 disease not phenotype-associated VAR_033832 commonName VAR_033832 VAR_033832 disease not phenotype-associated VAR_033833 commonName VAR_033833 VAR_033833 disease not phenotype-associated VAR_033834 commonName VAR_033834 VAR_033834 disease not phenotype-associated VAR_033835 commonName VAR_033835 VAR_033835 disease not phenotype-associated VAR_033836 commonName VAR_033836 VAR_033836 disease not phenotype-associated VAR_033837 commonName VAR_033837 VAR_033837 disease not phenotype-associated VAR_033838 commonName VAR_033838 VAR_033838 disease not phenotype-associated VAR_033839 commonName VAR_033839 VAR_033839 disease not phenotype-associated VAR_033840 commonName VAR_033840 VAR_033840 disease not phenotype-associated VAR_033841 commonName VAR_033841 VAR_033841 disease not phenotype-associated VAR_033842 commonName VAR_033842 VAR_033842 disease not phenotype-associated VAR_033843 commonName VAR_033843 VAR_033843 disease not phenotype-associated VAR_033844 commonName VAR_033844 VAR_033844 disease not phenotype-associated VAR_033845 commonName VAR_033845 VAR_033845 disease not phenotype-associated VAR_033847 commonName VAR_033847 VAR_033847 disease not phenotype-associated VAR_033848 commonName VAR_033848 VAR_033848 disease not phenotype-associated VAR_033850 commonName VAR_033850 VAR_033850 disease not phenotype-associated VAR_033851 commonName VAR_033851 VAR_033851 disease not phenotype-associated VAR_033852 commonName VAR_033852 VAR_033852 disease not phenotype-associated VAR_033853 commonName VAR_033853 VAR_033853 disease not phenotype-associated VAR_033854 commonName VAR_033854 VAR_033854 disease not phenotype-associated VAR_033855 commonName VAR_033855 VAR_033855 disease not phenotype-associated VAR_033856 commonName VAR_033856 VAR_033856 disease not phenotype-associated VAR_033857 commonName VAR_033857 VAR_033857 disease not phenotype-associated VAR_033858 commonName VAR_033858 VAR_033858 disease not phenotype-associated VAR_033859 commonName VAR_033859 VAR_033859 disease not phenotype-associated VAR_033860 commonName VAR_033860 VAR_033860 disease not phenotype-associated VAR_033861 commonName VAR_033861 VAR_033861 disease not phenotype-associated VAR_033862 commonName VAR_033862 VAR_033862 disease not phenotype-associated VAR_033863 commonName VAR_033863 VAR_033863 disease not phenotype-associated VAR_033864 commonName VAR_033864 VAR_033864 disease not phenotype-associated VAR_033865 commonName VAR_033865 VAR_033865 disease not phenotype-associated VAR_033866 commonName VAR_033866 VAR_033866 disease not phenotype-associated VAR_033868 commonName VAR_033868 VAR_033868 disease not phenotype-associated VAR_033869 commonName VAR_033869 VAR_033869 disease not phenotype-associated VAR_033870 commonName VAR_033870 VAR_033870 disease not phenotype-associated VAR_033871 commonName VAR_033871 VAR_033871 disease not phenotype-associated VAR_033872 commonName VAR_033872 VAR_033872 disease not phenotype-associated VAR_033873 commonName VAR_033873 VAR_033873 disease not phenotype-associated VAR_033874 commonName VAR_033874 VAR_033874 disease not phenotype-associated VAR_033875 commonName VAR_033875 VAR_033875 disease not phenotype-associated VAR_033876 commonName VAR_033876 VAR_033876 disease not phenotype-associated VAR_033877 commonName VAR_033877 VAR_033877 disease not phenotype-associated VAR_033878 commonName VAR_033878 VAR_033878 disease not phenotype-associated VAR_033879 commonName VAR_033879 VAR_033879 disease not phenotype-associated VAR_033880 commonName VAR_033880 VAR_033880 disease not phenotype-associated VAR_033881 commonName VAR_033881 VAR_033881 disease not phenotype-associated VAR_033882 commonName VAR_033882 VAR_033882 disease not phenotype-associated VAR_033883 commonName VAR_033883 VAR_033883 disease not phenotype-associated VAR_033884 commonName VAR_033884 VAR_033884 disease not phenotype-associated VAR_033885 commonName VAR_033885 VAR_033885 disease not phenotype-associated VAR_033886 commonName VAR_033886 VAR_033886 disease not phenotype-associated VAR_033888 commonName VAR_033888 VAR_033888 disease not phenotype-associated VAR_033889 commonName VAR_033889 VAR_033889 disease not phenotype-associated VAR_033890 commonName VAR_033890 VAR_033890 disease not phenotype-associated VAR_033891 commonName VAR_033891 VAR_033891 disease not phenotype-associated VAR_033892 commonName VAR_033892 VAR_033892 disease not phenotype-associated VAR_033894 commonName VAR_033894 VAR_033894 disease not phenotype-associated VAR_033895 commonName VAR_033895 VAR_033895 disease not phenotype-associated VAR_033896 commonName VAR_033896 VAR_033896 disease not phenotype-associated VAR_033897 commonName VAR_033897 VAR_033897 disease not phenotype-associated VAR_033898 commonName VAR_033898 VAR_033898 disease not phenotype-associated VAR_033899 commonName VAR_033899 VAR_033899 disease not phenotype-associated VAR_033900 commonName VAR_033900 VAR_033900 disease not phenotype-associated VAR_033901 commonName VAR_033901 VAR_033901 disease not phenotype-associated VAR_033902 commonName VAR_033902 VAR_033902 disease not phenotype-associated VAR_033903 commonName VAR_033903 VAR_033903 disease not phenotype-associated VAR_033904 commonName VAR_033904 VAR_033904 disease not phenotype-associated VAR_033906 commonName VAR_033906 VAR_033906 disease not phenotype-associated VAR_033908 commonName VAR_033908 VAR_033908 disease not phenotype-associated VAR_033909 commonName VAR_033909 VAR_033909 disease not phenotype-associated VAR_033910 commonName VAR_033910 VAR_033910 disease not phenotype-associated VAR_033913 commonName VAR_033913 VAR_033913 disease not phenotype-associated VAR_033914 commonName VAR_033914 VAR_033914 disease not phenotype-associated VAR_033915 commonName VAR_033915 VAR_033915 disease not phenotype-associated VAR_033916 commonName VAR_033916 VAR_033916 disease not phenotype-associated VAR_033917 commonName VAR_033917 VAR_033917 disease not phenotype-associated VAR_033918 commonName VAR_033918 VAR_033918 disease not phenotype-associated VAR_033920 commonName VAR_033920 VAR_033920 disease not phenotype-associated VAR_033921 commonName VAR_033921 VAR_033921 disease not phenotype-associated VAR_033922 commonName VAR_033922 VAR_033922 disease not phenotype-associated VAR_033923 commonName VAR_033923 VAR_033923 disease not phenotype-associated VAR_033924 commonName VAR_033924 VAR_033924 disease not phenotype-associated VAR_033925 commonName VAR_033925 VAR_033925 disease not phenotype-associated VAR_033926 commonName VAR_033926 VAR_033926 disease not phenotype-associated VAR_033927 commonName VAR_033927 VAR_033927 disease not phenotype-associated VAR_033928 commonName VAR_033928 VAR_033928 disease not phenotype-associated VAR_033929 commonName VAR_033929 VAR_033929 disease not phenotype-associated VAR_033930 commonName VAR_033930 VAR_033930 disease not phenotype-associated VAR_033931 commonName VAR_033931 VAR_033931 disease not phenotype-associated VAR_033932 commonName VAR_033932 VAR_033932 disease not phenotype-associated VAR_033933 commonName VAR_033933 VAR_033933 disease not phenotype-associated VAR_033934 commonName VAR_033934 VAR_033934 disease not phenotype-associated VAR_033935 commonName VAR_033935 VAR_033935 disease not phenotype-associated VAR_033936 commonName VAR_033936 VAR_033936 disease not phenotype-associated VAR_033937 commonName VAR_033937 VAR_033937 disease not phenotype-associated VAR_033938 commonName VAR_033938 VAR_033938 disease not phenotype-associated VAR_033939 commonName VAR_033939 VAR_033939 disease not phenotype-associated VAR_033940 commonName VAR_033940 VAR_033940 disease not phenotype-associated VAR_033941 commonName VAR_033941 VAR_033941 disease not phenotype-associated VAR_033942 commonName VAR_033942 VAR_033942 disease not phenotype-associated VAR_033943 commonName VAR_033943 VAR_033943 disease not phenotype-associated VAR_033944 commonName VAR_033944 VAR_033944 disease not phenotype-associated VAR_033945 commonName VAR_033945 VAR_033945 disease not phenotype-associated VAR_033946 commonName VAR_033946 VAR_033946 disease not phenotype-associated VAR_033947 commonName VAR_033947 VAR_033947 disease not phenotype-associated VAR_033948 commonName VAR_033948 VAR_033948 disease not phenotype-associated VAR_033949 commonName VAR_033949 VAR_033949 disease not phenotype-associated VAR_033950 commonName VAR_033950 VAR_033950 disease not phenotype-associated VAR_033951 commonName VAR_033951 VAR_033951 disease not phenotype-associated VAR_033952 commonName VAR_033952 VAR_033952 disease not phenotype-associated VAR_033953 commonName VAR_033953 VAR_033953 disease not phenotype-associated VAR_033954 commonName VAR_033954 VAR_033954 disease not phenotype-associated VAR_033955 commonName VAR_033955 VAR_033955 disease not phenotype-associated VAR_033956 commonName VAR_033956 VAR_033956 disease not phenotype-associated VAR_033958 commonName VAR_033958 VAR_033958 disease not phenotype-associated VAR_033959 commonName VAR_033959 VAR_033959 disease not phenotype-associated VAR_033960 commonName VAR_033960 VAR_033960 disease not phenotype-associated VAR_033961 commonName VAR_033961 VAR_033961 disease not phenotype-associated VAR_033962 commonName VAR_033962 VAR_033962 disease not phenotype-associated VAR_033963 commonName VAR_033963 VAR_033963 disease not phenotype-associated VAR_033964 commonName VAR_033964 VAR_033964 disease not phenotype-associated VAR_033965 commonName VAR_033965 VAR_033965 disease not phenotype-associated VAR_033966 commonName VAR_033966 VAR_033966 disease not phenotype-associated VAR_033967 commonName VAR_033967 VAR_033967 disease not phenotype-associated VAR_033968 commonName VAR_033968 VAR_033968 disease not phenotype-associated VAR_033969 commonName VAR_033969 VAR_033969 disease not phenotype-associated VAR_033970 commonName VAR_033970 VAR_033970 disease not phenotype-associated VAR_033971 commonName VAR_033971 VAR_033971 disease not phenotype-associated VAR_033972 commonName VAR_033972 VAR_033972 disease not phenotype-associated VAR_033973 commonName VAR_033973 VAR_033973 disease not phenotype-associated VAR_033974 commonName VAR_033974 VAR_033974 disease not phenotype-associated VAR_033975 commonName VAR_033975 VAR_033975 disease not phenotype-associated VAR_033977 commonName VAR_033977 VAR_033977 disease not phenotype-associated VAR_033978 commonName VAR_033978 VAR_033978 disease not phenotype-associated VAR_033979 commonName VAR_033979 VAR_033979 disease not phenotype-associated VAR_033982 commonName VAR_033982 VAR_033982 disease not phenotype-associated VAR_033983 commonName VAR_033983 VAR_033983 disease not phenotype-associated VAR_033984 commonName VAR_033984 VAR_033984 disease not phenotype-associated VAR_033985 commonName VAR_033985 VAR_033985 disease not phenotype-associated VAR_033986 commonName VAR_033986 VAR_033986 disease not phenotype-associated VAR_033987 commonName VAR_033987 VAR_033987 disease not phenotype-associated VAR_033989 commonName VAR_033989 VAR_033989 disease not phenotype-associated VAR_033990 commonName VAR_033990 VAR_033990 disease not phenotype-associated VAR_033991 commonName VAR_033991 VAR_033991 disease not phenotype-associated VAR_033992 commonName VAR_033992 VAR_033992 disease not phenotype-associated VAR_033993 commonName VAR_033993 VAR_033993 disease not phenotype-associated VAR_033994 commonName VAR_033994 VAR_033994 disease not phenotype-associated VAR_033995 commonName VAR_033995 VAR_033995 disease not phenotype-associated VAR_033996 commonName VAR_033996 VAR_033996 disease not phenotype-associated VAR_033998 commonName VAR_033998 VAR_033998 disease not phenotype-associated VAR_033999 commonName VAR_033999 VAR_033999 disease not phenotype-associated VAR_034000 commonName VAR_034000 VAR_034000 disease not phenotype-associated VAR_034001 commonName VAR_034001 VAR_034001 disease not phenotype-associated VAR_034002 commonName VAR_034002 VAR_034002 disease not phenotype-associated VAR_034004 commonName VAR_034004 VAR_034004 disease not phenotype-associated VAR_034005 commonName VAR_034005 VAR_034005 disease not phenotype-associated VAR_034006 commonName VAR_034006 VAR_034006 disease not phenotype-associated VAR_034007 commonName VAR_034007 VAR_034007 disease not phenotype-associated VAR_034008 commonName VAR_034008 VAR_034008 disease not phenotype-associated VAR_034009 commonName VAR_034009 VAR_034009 disease not phenotype-associated VAR_034010 commonName VAR_034010 VAR_034010 disease not phenotype-associated VAR_034012 commonName VAR_034012 VAR_034012 disease not phenotype-associated VAR_034013 commonName VAR_034013 VAR_034013 disease not phenotype-associated VAR_034014 commonName VAR_034014 VAR_034014 disease not phenotype-associated VAR_034015 commonName VAR_034015 VAR_034015 disease not phenotype-associated VAR_034016 commonName VAR_034016 VAR_034016 disease not phenotype-associated VAR_034018 commonName VAR_034018 VAR_034018 disease not phenotype-associated VAR_034019 commonName VAR_034019 VAR_034019 disease not phenotype-associated VAR_034020 commonName VAR_034020 VAR_034020 disease not phenotype-associated VAR_034021 commonName VAR_034021 VAR_034021 disease not phenotype-associated VAR_034022 commonName VAR_034022 VAR_034022 disease not phenotype-associated VAR_034025 commonName VAR_034025 VAR_034025 disease not phenotype-associated VAR_034026 commonName VAR_034026 VAR_034026 disease not phenotype-associated VAR_034027 commonName VAR_034027 VAR_034027 disease not phenotype-associated VAR_034028 commonName VAR_034028 VAR_034028 disease not phenotype-associated VAR_034029 commonName VAR_034029 VAR_034029 disease not phenotype-associated VAR_034030 commonName VAR_034030 VAR_034030 disease not phenotype-associated VAR_034031 commonName VAR_034031 VAR_034031 disease not phenotype-associated VAR_034032 commonName VAR_034032 VAR_034032 disease not phenotype-associated VAR_034033 commonName VAR_034033 VAR_034033 disease not phenotype-associated VAR_034034 commonName VAR_034034 VAR_034034 disease not phenotype-associated VAR_034035 commonName VAR_034035 VAR_034035 disease not phenotype-associated VAR_034036 commonName VAR_034036 VAR_034036 disease not phenotype-associated VAR_034037 commonName VAR_034037 VAR_034037 disease not phenotype-associated VAR_034038 commonName VAR_034038 VAR_034038 disease not phenotype-associated VAR_034039 commonName VAR_034039 VAR_034039 disease not phenotype-associated VAR_034040 commonName VAR_034040 VAR_034040 disease not phenotype-associated VAR_034041 commonName VAR_034041 VAR_034041 disease not phenotype-associated VAR_034042 commonName VAR_034042 VAR_034042 disease not phenotype-associated VAR_034043 commonName VAR_034043 VAR_034043 disease not phenotype-associated VAR_034044 commonName VAR_034044 VAR_034044 disease not phenotype-associated VAR_034046 commonName VAR_034046 VAR_034046 disease not phenotype-associated VAR_034047 commonName VAR_034047 VAR_034047 disease not phenotype-associated VAR_034048 commonName VAR_034048 VAR_034048 disease not phenotype-associated VAR_034049 commonName VAR_034049 VAR_034049 disease not phenotype-associated VAR_034050 commonName VAR_034050 VAR_034050 disease not phenotype-associated VAR_034051 commonName VAR_034051 VAR_034051 disease not phenotype-associated VAR_034052 commonName VAR_034052 VAR_034052 disease not phenotype-associated VAR_034053 commonName VAR_034053 VAR_034053 disease not phenotype-associated VAR_034054 commonName VAR_034054 VAR_034054 disease not phenotype-associated VAR_034055 commonName VAR_034055 VAR_034055 disease not phenotype-associated VAR_034056 commonName VAR_034056 VAR_034056 disease not phenotype-associated VAR_034057 commonName VAR_034057 VAR_034057 disease not phenotype-associated VAR_034060 commonName VAR_034060 VAR_034060 disease not phenotype-associated VAR_034061 commonName VAR_034061 VAR_034061 disease not phenotype-associated VAR_034062 commonName VAR_034062 VAR_034062 disease not phenotype-associated VAR_034063 commonName VAR_034063 VAR_034063 disease not phenotype-associated VAR_034064 commonName VAR_034064 VAR_034064 disease not phenotype-associated VAR_034065 commonName VAR_034065 VAR_034065 disease not phenotype-associated VAR_034066 commonName VAR_034066 VAR_034066 disease not phenotype-associated VAR_034069 commonName VAR_034069 VAR_034069 disease not phenotype-associated VAR_034070 commonName VAR_034070 VAR_034070 disease not phenotype-associated VAR_034071 commonName VAR_034071 VAR_034071 disease not phenotype-associated VAR_034072 commonName VAR_034072 VAR_034072 disease not phenotype-associated VAR_034073 commonName VAR_034073 VAR_034073 disease not phenotype-associated VAR_034074 commonName VAR_034074 VAR_034074 disease not phenotype-associated VAR_034075 commonName VAR_034075 VAR_034075 disease not phenotype-associated VAR_034076 commonName VAR_034076 VAR_034076 disease not phenotype-associated VAR_034077 commonName VAR_034077 VAR_034077 disease not phenotype-associated VAR_034078 commonName VAR_034078 VAR_034078 disease not phenotype-associated VAR_034079 commonName VAR_034079 VAR_034079 disease not phenotype-associated VAR_034080 commonName VAR_034080 VAR_034080 disease not phenotype-associated VAR_034081 commonName VAR_034081 VAR_034081 disease not phenotype-associated VAR_034082 commonName VAR_034082 VAR_034082 disease not phenotype-associated VAR_034083 commonName VAR_034083 VAR_034083 disease not phenotype-associated VAR_034084 commonName VAR_034084 VAR_034084 disease not phenotype-associated VAR_034085 commonName VAR_034085 VAR_034085 disease not phenotype-associated VAR_034087 commonName VAR_034087 VAR_034087 disease not phenotype-associated VAR_034088 commonName VAR_034088 VAR_034088 disease not phenotype-associated VAR_034089 commonName VAR_034089 VAR_034089 disease not phenotype-associated VAR_034090 commonName VAR_034090 VAR_034090 disease not phenotype-associated VAR_034091 commonName VAR_034091 VAR_034091 disease not phenotype-associated VAR_034092 commonName VAR_034092 VAR_034092 disease not phenotype-associated VAR_034093 commonName VAR_034093 VAR_034093 disease not phenotype-associated VAR_034094 commonName VAR_034094 VAR_034094 disease not phenotype-associated VAR_034095 commonName VAR_034095 VAR_034095 disease not phenotype-associated VAR_034097 commonName VAR_034097 VAR_034097 disease not phenotype-associated VAR_034098 commonName VAR_034098 VAR_034098 disease not phenotype-associated VAR_034099 commonName VAR_034099 VAR_034099 disease not phenotype-associated VAR_034100 commonName VAR_034100 VAR_034100 disease not phenotype-associated VAR_034101 commonName VAR_034101 VAR_034101 disease not phenotype-associated VAR_034102 commonName VAR_034102 VAR_034102 disease not phenotype-associated VAR_034103 commonName VAR_034103 VAR_034103 disease not phenotype-associated VAR_034104 commonName VAR_034104 VAR_034104 disease not phenotype-associated VAR_034105 commonName VAR_034105 VAR_034105 disease not phenotype-associated VAR_034106 commonName VAR_034106 VAR_034106 disease not phenotype-associated VAR_034107 commonName VAR_034107 VAR_034107 disease not phenotype-associated VAR_034109 commonName VAR_034109 VAR_034109 disease not phenotype-associated VAR_034110 commonName VAR_034110 VAR_034110 disease not phenotype-associated VAR_034111 commonName VAR_034111 VAR_034111 disease not phenotype-associated VAR_034112 commonName VAR_034112 VAR_034112 disease not phenotype-associated VAR_034113 commonName VAR_034113 VAR_034113 disease not phenotype-associated VAR_034114 commonName VAR_034114 VAR_034114 disease not phenotype-associated VAR_034116 commonName VAR_034116 VAR_034116 disease not phenotype-associated VAR_034117 commonName VAR_034117 VAR_034117 disease not phenotype-associated VAR_034118 commonName VAR_034118 VAR_034118 disease not phenotype-associated VAR_034119 commonName VAR_034119 VAR_034119 disease not phenotype-associated VAR_034120 commonName VAR_034120 VAR_034120 disease not phenotype-associated VAR_034121 commonName VAR_034121 VAR_034121 disease not phenotype-associated VAR_034122 commonName VAR_034122 VAR_034122 disease not phenotype-associated VAR_034123 commonName VAR_034123 VAR_034123 disease not phenotype-associated VAR_034125 commonName VAR_034125 VAR_034125 disease not phenotype-associated VAR_034126 commonName VAR_034126 VAR_034126 disease not phenotype-associated VAR_034127 commonName VAR_034127 VAR_034127 disease not phenotype-associated VAR_034128 commonName VAR_034128 VAR_034128 disease not phenotype-associated VAR_034129 commonName VAR_034129 VAR_034129 disease not phenotype-associated VAR_034130 commonName VAR_034130 VAR_034130 disease not phenotype-associated VAR_034131 commonName VAR_034131 VAR_034131 disease not phenotype-associated VAR_034132 commonName VAR_034132 VAR_034132 disease not phenotype-associated VAR_034133 commonName VAR_034133 VAR_034133 disease not phenotype-associated VAR_034134 commonName VAR_034134 VAR_034134 disease not phenotype-associated VAR_034135 commonName VAR_034135 VAR_034135 disease not phenotype-associated VAR_034136 commonName VAR_034136 VAR_034136 disease not phenotype-associated VAR_034137 commonName VAR_034137 VAR_034137 disease not phenotype-associated VAR_034138 commonName VAR_034138 VAR_034138 disease not phenotype-associated VAR_034139 commonName VAR_034139 VAR_034139 disease not phenotype-associated VAR_034140 commonName VAR_034140 VAR_034140 disease not phenotype-associated VAR_034141 commonName VAR_034141 VAR_034141 disease not phenotype-associated VAR_034142 commonName VAR_034142 VAR_034142 disease not phenotype-associated VAR_034143 commonName VAR_034143 VAR_034143 disease not phenotype-associated VAR_034144 commonName VAR_034144 VAR_034144 disease not phenotype-associated VAR_034145 commonName VAR_034145 VAR_034145 disease not phenotype-associated VAR_034146 commonName VAR_034146 VAR_034146 disease not phenotype-associated VAR_034147 commonName VAR_034147 VAR_034147 disease not phenotype-associated VAR_034148 commonName VAR_034148 VAR_034148 disease not phenotype-associated VAR_034149 commonName VAR_034149 VAR_034149 disease not phenotype-associated VAR_034150 commonName VAR_034150 VAR_034150 disease not phenotype-associated VAR_034151 commonName VAR_034151 VAR_034151 disease not phenotype-associated VAR_034152 commonName VAR_034152 VAR_034152 disease not phenotype-associated VAR_034153 commonName VAR_034153 VAR_034153 disease not phenotype-associated VAR_034154 commonName VAR_034154 VAR_034154 disease not phenotype-associated VAR_034155 commonName VAR_034155 VAR_034155 disease not phenotype-associated VAR_034156 commonName VAR_034156 VAR_034156 disease not phenotype-associated VAR_034157 commonName VAR_034157 VAR_034157 disease not phenotype-associated VAR_034158 commonName VAR_034158 VAR_034158 disease not phenotype-associated VAR_034159 commonName VAR_034159 VAR_034159 disease not phenotype-associated VAR_034160 commonName VAR_034160 VAR_034160 disease not phenotype-associated VAR_034161 commonName VAR_034161 VAR_034161 disease not phenotype-associated VAR_034162 commonName VAR_034162 VAR_034162 disease not phenotype-associated VAR_034163 commonName VAR_034163 VAR_034163 disease not phenotype-associated VAR_034164 commonName VAR_034164 VAR_034164 disease not phenotype-associated VAR_034165 commonName VAR_034165 VAR_034165 disease not phenotype-associated VAR_034166 commonName VAR_034166 VAR_034166 disease not phenotype-associated VAR_034167 commonName VAR_034167 VAR_034167 disease not phenotype-associated VAR_034168 commonName VAR_034168 VAR_034168 disease not phenotype-associated VAR_034169 commonName VAR_034169 VAR_034169 disease not phenotype-associated VAR_034170 commonName VAR_034170 VAR_034170 disease not phenotype-associated VAR_034171 commonName VAR_034171 VAR_034171 disease not phenotype-associated VAR_034172 commonName VAR_034172 VAR_034172 disease not phenotype-associated VAR_034173 commonName VAR_034173 VAR_034173 disease not phenotype-associated VAR_034174 commonName VAR_034174 VAR_034174 disease not phenotype-associated VAR_034175 commonName VAR_034175 VAR_034175 disease not phenotype-associated VAR_034176 commonName VAR_034176 VAR_034176 disease not phenotype-associated VAR_034177 commonName VAR_034177 VAR_034177 disease not phenotype-associated VAR_034178 commonName VAR_034178 VAR_034178 disease not phenotype-associated VAR_034179 commonName VAR_034179 VAR_034179 disease not phenotype-associated VAR_034180 commonName VAR_034180 VAR_034180 disease not phenotype-associated VAR_034181 commonName VAR_034181 VAR_034181 disease not phenotype-associated VAR_034182 commonName VAR_034182 VAR_034182 disease not phenotype-associated VAR_034183 commonName VAR_034183 VAR_034183 disease not phenotype-associated VAR_034184 commonName VAR_034184 VAR_034184 disease not phenotype-associated VAR_034185 commonName VAR_034185 VAR_034185 disease not phenotype-associated VAR_034186 commonName VAR_034186 VAR_034186 disease not phenotype-associated VAR_034187 commonName VAR_034187 VAR_034187 disease not phenotype-associated VAR_034188 commonName VAR_034188 VAR_034188 disease not phenotype-associated VAR_034189 commonName VAR_034189 VAR_034189 disease not phenotype-associated VAR_034190 commonName VAR_034190 VAR_034190 disease not phenotype-associated VAR_034191 commonName VAR_034191 VAR_034191 disease not phenotype-associated VAR_034192 commonName VAR_034192 VAR_034192 disease not phenotype-associated VAR_034193 commonName VAR_034193 VAR_034193 disease not phenotype-associated VAR_034194 commonName VAR_034194 VAR_034194 disease not phenotype-associated VAR_034195 commonName VAR_034195 VAR_034195 disease not phenotype-associated VAR_034196 commonName VAR_034196 VAR_034196 disease not phenotype-associated VAR_034197 commonName VAR_034197 VAR_034197 disease not phenotype-associated VAR_034198 commonName VAR_034198 VAR_034198 disease not phenotype-associated VAR_034199 commonName VAR_034199 VAR_034199 disease not phenotype-associated VAR_034200 commonName VAR_034200 VAR_034200 disease not phenotype-associated VAR_034201 commonName VAR_034201 VAR_034201 disease not phenotype-associated VAR_034202 commonName VAR_034202 VAR_034202 disease not phenotype-associated VAR_034203 commonName VAR_034203 VAR_034203 disease not phenotype-associated VAR_034204 commonName VAR_034204 VAR_034204 disease not phenotype-associated VAR_034205 commonName VAR_034205 VAR_034205 disease not phenotype-associated VAR_034206 commonName VAR_034206 VAR_034206 disease not phenotype-associated VAR_034207 commonName VAR_034207 VAR_034207 disease not phenotype-associated VAR_034208 commonName VAR_034208 VAR_034208 disease not phenotype-associated VAR_034209 commonName VAR_034209 VAR_034209 disease not phenotype-associated VAR_034210 commonName VAR_034210 VAR_034210 disease not phenotype-associated VAR_034211 commonName VAR_034211 VAR_034211 disease not phenotype-associated VAR_034212 commonName VAR_034212 VAR_034212 disease not phenotype-associated VAR_034213 commonName VAR_034213 VAR_034213 disease not phenotype-associated VAR_034214 commonName VAR_034214 VAR_034214 disease not phenotype-associated VAR_034215 commonName VAR_034215 VAR_034215 disease not phenotype-associated VAR_034216 commonName VAR_034216 VAR_034216 disease not phenotype-associated VAR_034217 commonName VAR_034217 VAR_034217 disease not phenotype-associated VAR_034218 commonName VAR_034218 VAR_034218 disease not phenotype-associated VAR_034219 commonName VAR_034219 VAR_034219 disease not phenotype-associated VAR_034220 commonName VAR_034220 VAR_034220 disease not phenotype-associated VAR_034221 commonName VAR_034221 VAR_034221 disease not phenotype-associated VAR_034222 commonName VAR_034222 VAR_034222 disease not phenotype-associated VAR_034223 commonName VAR_034223 VAR_034223 disease not phenotype-associated VAR_034224 commonName VAR_034224 VAR_034224 disease not phenotype-associated VAR_034225 commonName VAR_034225 VAR_034225 disease not phenotype-associated VAR_034226 commonName VAR_034226 VAR_034226 disease not phenotype-associated VAR_034227 commonName VAR_034227 VAR_034227 disease not phenotype-associated VAR_034228 commonName VAR_034228 VAR_034228 disease not phenotype-associated VAR_034229 commonName VAR_034229 VAR_034229 disease not phenotype-associated VAR_034230 commonName VAR_034230 VAR_034230 disease not phenotype-associated VAR_034231 commonName VAR_034231 VAR_034231 disease not phenotype-associated VAR_034232 commonName VAR_034232 VAR_034232 disease not phenotype-associated VAR_034233 commonName VAR_034233 VAR_034233 disease not phenotype-associated VAR_034236 commonName VAR_034236 VAR_034236 disease not phenotype-associated VAR_034237 commonName VAR_034237 VAR_034237 disease not phenotype-associated VAR_034238 commonName VAR_034238 VAR_034238 disease not phenotype-associated VAR_034239 commonName VAR_034239 VAR_034239 disease not phenotype-associated VAR_034240 commonName VAR_034240 VAR_034240 disease not phenotype-associated VAR_034241 commonName VAR_034241 VAR_034241 disease not phenotype-associated VAR_034242 commonName VAR_034242 VAR_034242 disease not phenotype-associated VAR_034243 commonName VAR_034243 VAR_034243 disease not phenotype-associated VAR_034244 commonName VAR_034244 VAR_034244 disease not phenotype-associated VAR_034245 commonName VAR_034245 VAR_034245 disease not phenotype-associated VAR_034246 commonName VAR_034246 VAR_034246 disease not phenotype-associated VAR_034247 commonName VAR_034247 VAR_034247 disease not phenotype-associated VAR_034248 commonName VAR_034248 VAR_034248 disease not phenotype-associated VAR_034249 commonName VAR_034249 VAR_034249 disease not phenotype-associated VAR_034250 commonName VAR_034250 VAR_034250 disease not phenotype-associated VAR_034251 commonName VAR_034251 VAR_034251 disease not phenotype-associated VAR_034252 commonName VAR_034252 VAR_034252 disease not phenotype-associated VAR_034253 commonName VAR_034253 VAR_034253 disease not phenotype-associated VAR_034254 commonName VAR_034254 VAR_034254 disease not phenotype-associated VAR_034255 commonName VAR_034255 VAR_034255 disease not phenotype-associated VAR_034256 commonName VAR_034256 VAR_034256 disease not phenotype-associated VAR_034257 commonName VAR_034257 VAR_034257 disease not phenotype-associated VAR_034258 commonName VAR_034258 VAR_034258 disease not phenotype-associated VAR_034259 commonName VAR_034259 VAR_034259 disease not phenotype-associated VAR_034260 commonName VAR_034260 VAR_034260 disease not phenotype-associated VAR_034261 commonName VAR_034261 VAR_034261 disease not phenotype-associated VAR_034262 commonName VAR_034262 VAR_034262 disease not phenotype-associated VAR_034263 commonName VAR_034263 VAR_034263 disease not phenotype-associated VAR_034264 commonName VAR_034264 VAR_034264 disease not phenotype-associated VAR_034265 commonName VAR_034265 VAR_034265 disease not phenotype-associated VAR_034266 commonName VAR_034266 VAR_034266 disease not phenotype-associated VAR_034267 commonName VAR_034267 VAR_034267 disease not phenotype-associated VAR_034268 commonName VAR_034268 VAR_034268 disease not phenotype-associated VAR_034269 commonName VAR_034269 VAR_034269 disease not phenotype-associated VAR_034270 commonName VAR_034270 VAR_034270 disease not phenotype-associated VAR_034271 commonName VAR_034271 VAR_034271 disease not phenotype-associated VAR_034272 commonName VAR_034272 VAR_034272 disease not phenotype-associated VAR_034273 commonName VAR_034273 VAR_034273 disease not phenotype-associated VAR_034274 commonName VAR_034274 VAR_034274 disease not phenotype-associated VAR_034275 commonName VAR_034275 VAR_034275 disease not phenotype-associated VAR_034277 commonName VAR_034277 VAR_034277 disease not phenotype-associated VAR_034278 commonName VAR_034278 VAR_034278 disease not phenotype-associated VAR_034279 commonName VAR_034279 VAR_034279 disease not phenotype-associated VAR_034280 commonName VAR_034280 VAR_034280 disease not phenotype-associated VAR_034281 commonName VAR_034281 VAR_034281 disease not phenotype-associated VAR_034282 commonName VAR_034282 VAR_034282 disease not phenotype-associated VAR_034283 commonName VAR_034283 VAR_034283 disease not phenotype-associated VAR_034284 commonName VAR_034284 VAR_034284 disease not phenotype-associated VAR_034285 commonName VAR_034285 VAR_034285 disease not phenotype-associated VAR_034286 commonName VAR_034286 VAR_034286 disease not phenotype-associated VAR_034287 commonName VAR_034287 VAR_034287 disease not phenotype-associated VAR_034288 commonName VAR_034288 VAR_034288 disease not phenotype-associated VAR_034289 commonName VAR_034289 VAR_034289 disease not phenotype-associated VAR_034290 commonName VAR_034290 VAR_034290 disease not phenotype-associated VAR_034291 commonName VAR_034291 VAR_034291 disease not phenotype-associated VAR_034292 commonName VAR_034292 VAR_034292 disease not phenotype-associated VAR_034293 commonName VAR_034293 VAR_034293 disease not phenotype-associated VAR_034294 commonName VAR_034294 VAR_034294 disease not phenotype-associated VAR_034295 commonName VAR_034295 VAR_034295 disease not phenotype-associated VAR_034296 commonName VAR_034296 VAR_034296 disease not phenotype-associated VAR_034297 commonName VAR_034297 VAR_034297 disease not phenotype-associated VAR_034298 commonName VAR_034298 VAR_034298 disease not phenotype-associated VAR_034299 commonName VAR_034299 VAR_034299 disease not phenotype-associated VAR_034300 commonName VAR_034300 VAR_034300 disease not phenotype-associated VAR_034301 commonName VAR_034301 VAR_034301 disease not phenotype-associated VAR_034302 commonName VAR_034302 VAR_034302 disease not phenotype-associated VAR_034303 commonName VAR_034303 VAR_034303 disease not phenotype-associated VAR_034304 commonName VAR_034304 VAR_034304 disease not phenotype-associated VAR_034305 commonName VAR_034305 VAR_034305 disease not phenotype-associated VAR_034306 commonName VAR_034306 VAR_034306 disease not phenotype-associated VAR_034307 commonName VAR_034307 VAR_034307 disease not phenotype-associated VAR_034308 commonName VAR_034308 VAR_034308 disease not phenotype-associated VAR_034309 commonName VAR_034309 VAR_034309 disease not phenotype-associated VAR_034310 commonName VAR_034310 VAR_034310 disease not phenotype-associated VAR_034311 commonName VAR_034311 VAR_034311 disease not phenotype-associated VAR_034312 commonName VAR_034312 VAR_034312 disease not phenotype-associated VAR_034313 commonName VAR_034313 VAR_034313 disease not phenotype-associated VAR_034314 commonName VAR_034314 VAR_034314 disease not phenotype-associated VAR_034315 commonName VAR_034315 VAR_034315 disease not phenotype-associated VAR_034316 commonName VAR_034316 VAR_034316 disease not phenotype-associated VAR_034317 commonName VAR_034317 VAR_034317 disease not phenotype-associated VAR_034318 commonName VAR_034318 VAR_034318 disease not phenotype-associated VAR_034319 commonName VAR_034319 VAR_034319 disease not phenotype-associated VAR_034320 commonName VAR_034320 VAR_034320 disease not phenotype-associated VAR_034321 commonName VAR_034321 VAR_034321 disease not phenotype-associated VAR_034322 commonName VAR_034322 VAR_034322 disease not phenotype-associated VAR_034323 commonName VAR_034323 VAR_034323 disease not phenotype-associated VAR_034324 commonName VAR_034324 VAR_034324 disease not phenotype-associated VAR_034325 commonName VAR_034325 VAR_034325 disease not phenotype-associated VAR_034326 commonName VAR_034326 VAR_034326 disease not phenotype-associated VAR_034327 commonName VAR_034327 VAR_034327 disease not phenotype-associated VAR_034328 commonName VAR_034328 VAR_034328 disease not phenotype-associated VAR_034329 commonName VAR_034329 VAR_034329 disease not phenotype-associated VAR_034330 commonName VAR_034330 VAR_034330 disease not phenotype-associated VAR_034331 commonName VAR_034331 VAR_034331 disease not phenotype-associated VAR_034332 commonName VAR_034332 VAR_034332 disease not phenotype-associated VAR_034333 commonName VAR_034333 VAR_034333 disease not phenotype-associated VAR_034334 commonName VAR_034334 VAR_034334 disease not phenotype-associated VAR_034335 commonName VAR_034335 VAR_034335 disease not phenotype-associated VAR_034336 commonName VAR_034336 VAR_034336 disease not phenotype-associated VAR_034337 commonName VAR_034337 VAR_034337 disease not phenotype-associated VAR_034342 commonName VAR_034342 VAR_034342 disease not phenotype-associated VAR_034343 commonName VAR_034343 VAR_034343 disease not phenotype-associated VAR_034344 commonName VAR_034344 VAR_034344 disease not phenotype-associated VAR_034345 commonName VAR_034345 VAR_034345 disease not phenotype-associated VAR_034346 commonName VAR_034346 VAR_034346 disease not phenotype-associated VAR_034347 commonName VAR_034347 VAR_034347 disease not phenotype-associated VAR_034348 commonName VAR_034348 VAR_034348 disease not phenotype-associated VAR_034349 commonName VAR_034349 VAR_034349 disease not phenotype-associated VAR_034350 commonName VAR_034350 VAR_034350 disease not phenotype-associated VAR_034351 commonName VAR_034351 VAR_034351 disease not phenotype-associated VAR_034352 commonName VAR_034352 VAR_034352 disease not phenotype-associated VAR_034353 commonName VAR_034353 VAR_034353 disease not phenotype-associated VAR_034354 commonName VAR_034354 VAR_034354 disease not phenotype-associated VAR_034356 commonName VAR_034356 VAR_034356 disease not phenotype-associated VAR_034357 commonName VAR_034357 VAR_034357 disease not phenotype-associated VAR_034358 commonName VAR_034358 VAR_034358 disease not phenotype-associated VAR_034359 commonName VAR_034359 VAR_034359 disease not phenotype-associated VAR_034360 commonName VAR_034360 VAR_034360 disease not phenotype-associated VAR_034361 commonName VAR_034361 VAR_034361 disease not phenotype-associated VAR_034362 commonName VAR_034362 VAR_034362 disease not phenotype-associated VAR_034363 commonName VAR_034363 VAR_034363 disease not phenotype-associated VAR_034364 commonName VAR_034364 VAR_034364 disease not phenotype-associated VAR_034365 commonName VAR_034365 VAR_034365 disease not phenotype-associated VAR_034366 commonName VAR_034366 VAR_034366 disease not phenotype-associated VAR_034367 commonName VAR_034367 VAR_034367 disease not phenotype-associated VAR_034368 commonName VAR_034368 VAR_034368 disease not phenotype-associated VAR_034369 commonName VAR_034369 VAR_034369 disease not phenotype-associated VAR_034371 commonName VAR_034371 VAR_034371 disease not phenotype-associated VAR_034372 commonName VAR_034372 VAR_034372 disease not phenotype-associated VAR_034374 commonName VAR_034374 VAR_034374 disease not phenotype-associated VAR_034375 commonName VAR_034375 VAR_034375 disease not phenotype-associated VAR_034376 commonName VAR_034376 VAR_034376 disease not phenotype-associated VAR_034377 commonName VAR_034377 VAR_034377 disease not phenotype-associated VAR_034378 commonName VAR_034378 VAR_034378 disease not phenotype-associated VAR_034379 commonName VAR_034379 VAR_034379 disease not phenotype-associated VAR_034381 commonName VAR_034381 VAR_034381 disease not phenotype-associated VAR_034383 commonName VAR_034383 VAR_034383 disease not phenotype-associated VAR_034384 commonName VAR_034384 VAR_034384 disease not phenotype-associated VAR_034385 commonName VAR_034385 VAR_034385 disease not phenotype-associated VAR_034386 commonName VAR_034386 VAR_034386 disease not phenotype-associated VAR_034387 commonName VAR_034387 VAR_034387 disease not phenotype-associated VAR_034388 commonName VAR_034388 VAR_034388 disease not phenotype-associated VAR_034389 commonName VAR_034389 VAR_034389 disease not phenotype-associated VAR_034390 commonName VAR_034390 VAR_034390 disease not phenotype-associated VAR_034391 commonName VAR_034391 VAR_034391 disease not phenotype-associated VAR_034392 commonName VAR_034392 VAR_034392 disease not phenotype-associated VAR_034394 commonName VAR_034394 VAR_034394 disease not phenotype-associated VAR_034395 commonName VAR_034395 VAR_034395 disease not phenotype-associated VAR_034396 commonName VAR_034396 VAR_034396 disease not phenotype-associated VAR_034397 commonName VAR_034397 VAR_034397 disease not phenotype-associated VAR_034398 commonName VAR_034398 VAR_034398 disease not phenotype-associated VAR_034399 commonName VAR_034399 VAR_034399 disease not phenotype-associated VAR_034400 commonName VAR_034400 VAR_034400 disease not phenotype-associated VAR_034401 commonName VAR_034401 VAR_034401 disease not phenotype-associated VAR_034402 commonName VAR_034402 VAR_034402 disease not phenotype-associated VAR_034403 commonName VAR_034403 VAR_034403 disease not phenotype-associated VAR_034404 commonName VAR_034404 VAR_034404 disease not phenotype-associated VAR_034405 commonName VAR_034405 VAR_034405 disease not phenotype-associated VAR_034406 commonName VAR_034406 VAR_034406 disease not phenotype-associated VAR_034407 commonName VAR_034407 VAR_034407 disease not phenotype-associated VAR_034408 commonName VAR_034408 VAR_034408 disease not phenotype-associated VAR_034409 commonName VAR_034409 VAR_034409 disease not phenotype-associated VAR_034410 commonName VAR_034410 VAR_034410 disease not phenotype-associated VAR_034411 commonName VAR_034411 VAR_034411 disease not phenotype-associated VAR_034412 commonName VAR_034412 VAR_034412 disease not phenotype-associated VAR_034413 commonName VAR_034413 VAR_034413 disease not phenotype-associated VAR_034414 commonName VAR_034414 VAR_034414 disease not phenotype-associated VAR_034415 commonName VAR_034415 VAR_034415 disease not phenotype-associated VAR_034416 commonName VAR_034416 VAR_034416 disease not phenotype-associated VAR_034417 commonName VAR_034417 VAR_034417 disease not phenotype-associated VAR_034418 commonName VAR_034418 VAR_034418 disease not phenotype-associated VAR_034419 commonName VAR_034419 VAR_034419 disease not phenotype-associated VAR_034420 commonName VAR_034420 VAR_034420 disease not phenotype-associated VAR_034422 commonName VAR_034422 VAR_034422 disease not phenotype-associated VAR_034424 commonName VAR_034424 VAR_034424 disease not phenotype-associated VAR_034425 commonName VAR_034425 VAR_034425 disease not phenotype-associated VAR_034426 commonName VAR_034426 VAR_034426 disease not phenotype-associated VAR_034427 commonName VAR_034427 VAR_034427 disease not phenotype-associated VAR_034428 commonName VAR_034428 VAR_034428 disease not phenotype-associated VAR_034429 commonName VAR_034429 VAR_034429 disease not phenotype-associated VAR_034430 commonName VAR_034430 VAR_034430 disease not phenotype-associated VAR_034431 commonName VAR_034431 VAR_034431 disease not phenotype-associated VAR_034432 commonName VAR_034432 VAR_034432 disease not phenotype-associated VAR_034433 commonName VAR_034433 VAR_034433 disease not phenotype-associated VAR_034434 commonName VAR_034434 VAR_034434 disease not phenotype-associated VAR_034435 commonName VAR_034435 VAR_034435 disease not phenotype-associated VAR_034436 commonName VAR_034436 VAR_034436 disease not phenotype-associated VAR_034437 commonName VAR_034437 VAR_034437 disease not phenotype-associated VAR_034438 commonName VAR_034438 VAR_034438 disease not phenotype-associated VAR_034439 commonName VAR_034439 VAR_034439 disease not phenotype-associated VAR_034440 commonName VAR_034440 VAR_034440 disease not phenotype-associated VAR_034441 commonName VAR_034441 VAR_034441 disease not phenotype-associated VAR_034442 commonName VAR_034442 VAR_034442 disease not phenotype-associated VAR_034443 commonName VAR_034443 VAR_034443 disease not phenotype-associated VAR_034444 commonName VAR_034444 VAR_034444 disease not phenotype-associated VAR_034445 commonName VAR_034445 VAR_034445 disease not phenotype-associated VAR_034446 commonName VAR_034446 VAR_034446 disease not phenotype-associated VAR_034447 commonName VAR_034447 VAR_034447 disease not phenotype-associated VAR_034448 commonName VAR_034448 VAR_034448 disease not phenotype-associated VAR_034449 commonName VAR_034449 VAR_034449 disease not phenotype-associated VAR_034450 commonName VAR_034450 VAR_034450 disease not phenotype-associated VAR_034451 commonName VAR_034451 VAR_034451 disease not phenotype-associated VAR_034452 commonName VAR_034452 VAR_034452 disease not phenotype-associated VAR_034453 commonName VAR_034453 VAR_034453 disease not phenotype-associated VAR_034454 commonName VAR_034454 VAR_034454 disease not phenotype-associated VAR_034455 commonName VAR_034455 VAR_034455 disease not phenotype-associated VAR_034456 commonName VAR_034456 VAR_034456 disease not phenotype-associated VAR_034457 commonName VAR_034457 VAR_034457 disease not phenotype-associated VAR_034459 commonName VAR_034459 VAR_034459 disease not phenotype-associated VAR_034460 commonName VAR_034460 VAR_034460 disease not phenotype-associated VAR_034461 commonName VAR_034461 VAR_034461 disease not phenotype-associated VAR_034462 commonName VAR_034462 VAR_034462 disease not phenotype-associated VAR_034463 commonName VAR_034463 VAR_034463 disease not phenotype-associated VAR_034464 commonName VAR_034464 VAR_034464 disease not phenotype-associated VAR_034465 commonName VAR_034465 VAR_034465 disease not phenotype-associated VAR_034466 commonName VAR_034466 VAR_034466 disease not phenotype-associated VAR_034467 commonName VAR_034467 VAR_034467 disease not phenotype-associated VAR_034468 commonName VAR_034468 VAR_034468 disease not phenotype-associated VAR_034469 commonName VAR_034469 VAR_034469 disease not phenotype-associated VAR_034470 commonName VAR_034470 VAR_034470 disease not phenotype-associated VAR_034471 commonName VAR_034471 VAR_034471 disease not phenotype-associated VAR_034472 commonName VAR_034472 VAR_034472 disease not phenotype-associated VAR_034473 commonName VAR_034473 VAR_034473 disease not phenotype-associated VAR_034474 commonName VAR_034474 VAR_034474 disease not phenotype-associated VAR_034475 commonName VAR_034475 VAR_034475 disease not phenotype-associated VAR_034476 commonName VAR_034476 VAR_034476 disease not phenotype-associated VAR_034477 commonName VAR_034477 VAR_034477 disease phenotype-associated VAR_034477 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100] VAR_034479 commonName VAR_034479 VAR_034479 disease not phenotype-associated VAR_034480 commonName VAR_034480 VAR_034480 disease not phenotype-associated VAR_034481 commonName VAR_034481 VAR_034481 disease not phenotype-associated VAR_034482 commonName VAR_034482 VAR_034482 disease not phenotype-associated VAR_034483 commonName VAR_034483 VAR_034483 disease not phenotype-associated VAR_034484 commonName VAR_034484 VAR_034484 disease not phenotype-associated VAR_034485 commonName VAR_034485 VAR_034485 disease not phenotype-associated VAR_034486 commonName VAR_034486 VAR_034486 disease not phenotype-associated VAR_034487 commonName VAR_034487 VAR_034487 disease not phenotype-associated VAR_034488 commonName VAR_034488 VAR_034488 disease not phenotype-associated VAR_034489 commonName VAR_034489 VAR_034489 disease not phenotype-associated VAR_034490 commonName VAR_034490 VAR_034490 disease not phenotype-associated VAR_034491 commonName VAR_034491 VAR_034491 disease not phenotype-associated VAR_034492 commonName VAR_034492 VAR_034492 disease not phenotype-associated VAR_034493 commonName VAR_034493 VAR_034493 disease not phenotype-associated VAR_034494 commonName VAR_034494 VAR_034494 disease not phenotype-associated VAR_034495 commonName VAR_034495 VAR_034495 disease not phenotype-associated VAR_034496 commonName VAR_034496 VAR_034496 disease not phenotype-associated VAR_034497 commonName VAR_034497 VAR_034497 disease not phenotype-associated VAR_034498 commonName VAR_034498 VAR_034498 disease not phenotype-associated VAR_034499 commonName VAR_034499 VAR_034499 disease not phenotype-associated VAR_034500 commonName VAR_034500 VAR_034500 disease not phenotype-associated VAR_034501 commonName VAR_034501 VAR_034501 disease not phenotype-associated VAR_034502 commonName VAR_034502 VAR_034502 disease not phenotype-associated VAR_034503 commonName VAR_034503 VAR_034503 disease not phenotype-associated VAR_034504 commonName VAR_034504 VAR_034504 disease not phenotype-associated VAR_034505 commonName VAR_034505 VAR_034505 disease not phenotype-associated VAR_034506 commonName VAR_034506 VAR_034506 disease not phenotype-associated VAR_034507 commonName VAR_034507 VAR_034507 disease not phenotype-associated VAR_034508 commonName VAR_034508 VAR_034508 disease not phenotype-associated VAR_034509 commonName VAR_034509 VAR_034509 disease not phenotype-associated VAR_034510 commonName VAR_034510 VAR_034510 disease not phenotype-associated VAR_034511 commonName VAR_034511 VAR_034511 disease not phenotype-associated VAR_034512 commonName VAR_034512 VAR_034512 disease not phenotype-associated VAR_034513 commonName VAR_034513 VAR_034513 disease not phenotype-associated VAR_034514 commonName VAR_034514 VAR_034514 disease not phenotype-associated VAR_034515 commonName VAR_034515 VAR_034515 disease not phenotype-associated VAR_034517 commonName VAR_034517 VAR_034517 disease not phenotype-associated VAR_034518 commonName VAR_034518 VAR_034518 disease not phenotype-associated VAR_034519 commonName VAR_034519 VAR_034519 disease not phenotype-associated VAR_034520 commonName VAR_034520 VAR_034520 disease not phenotype-associated VAR_034521 commonName VAR_034521 VAR_034521 disease not phenotype-associated VAR_034522 commonName VAR_034522 VAR_034522 disease not phenotype-associated VAR_034523 commonName VAR_034523 VAR_034523 disease not phenotype-associated VAR_034524 commonName VAR_034524 VAR_034524 disease not phenotype-associated VAR_034525 commonName VAR_034525 VAR_034525 disease not phenotype-associated VAR_034526 commonName VAR_034526 VAR_034526 disease not phenotype-associated VAR_034527 commonName VAR_034527 VAR_034527 disease not phenotype-associated VAR_034528 commonName VAR_034528 VAR_034528 disease not phenotype-associated VAR_034532 commonName VAR_034532 VAR_034532 disease not phenotype-associated VAR_034533 commonName VAR_034533 VAR_034533 disease not phenotype-associated VAR_034534 commonName VAR_034534 VAR_034534 disease not phenotype-associated VAR_034535 commonName VAR_034535 VAR_034535 disease not phenotype-associated VAR_034536 commonName VAR_034536 VAR_034536 disease not phenotype-associated VAR_034537 commonName VAR_034537 VAR_034537 disease not phenotype-associated VAR_034538 commonName VAR_034538 VAR_034538 disease not phenotype-associated VAR_034539 commonName VAR_034539 VAR_034539 disease not phenotype-associated VAR_034540 commonName VAR_034540 VAR_034540 disease not phenotype-associated VAR_034541 commonName VAR_034541 VAR_034541 disease not phenotype-associated VAR_034542 commonName VAR_034542 VAR_034542 disease not phenotype-associated VAR_034543 commonName VAR_034543 VAR_034543 disease not phenotype-associated VAR_034544 commonName VAR_034544 VAR_034544 disease not phenotype-associated VAR_034545 commonName VAR_034545 VAR_034545 disease phenotype-associated VAR_034545 phenoCommon DiGeorge syndrome (DGS) [MIM:188400] VAR_034546 commonName VAR_034546 VAR_034546 disease not phenotype-associated VAR_034547 commonName VAR_034547 VAR_034547 disease not phenotype-associated VAR_034548 commonName VAR_034548 VAR_034548 disease not phenotype-associated VAR_034549 commonName VAR_034549 VAR_034549 disease not phenotype-associated VAR_034550 commonName VAR_034550 VAR_034550 disease not phenotype-associated VAR_034551 commonName VAR_034551 VAR_034551 disease not phenotype-associated VAR_034552 commonName VAR_034552 VAR_034552 disease not phenotype-associated VAR_034553 commonName VAR_034553 VAR_034553 disease not phenotype-associated VAR_034554 commonName VAR_034554 VAR_034554 disease not phenotype-associated VAR_034555 commonName VAR_034555 VAR_034555 disease not phenotype-associated VAR_034556 commonName VAR_034556 VAR_034556 disease not phenotype-associated VAR_034558 commonName VAR_034558 VAR_034558 disease not phenotype-associated VAR_034559 commonName VAR_034559 VAR_034559 disease not phenotype-associated VAR_034560 commonName VAR_034560 VAR_034560 disease not phenotype-associated VAR_034561 commonName VAR_034561 VAR_034561 disease not phenotype-associated VAR_034562 commonName VAR_034562 VAR_034562 disease phenotype-associated VAR_034562 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_034564 commonName VAR_034564 VAR_034564 disease not phenotype-associated VAR_034565 commonName VAR_034565 VAR_034565 disease not phenotype-associated VAR_034566 commonName VAR_034566 VAR_034566 disease not phenotype-associated VAR_034567 commonName VAR_034567 VAR_034567 disease not phenotype-associated VAR_034568 commonName VAR_034568 VAR_034568 disease not phenotype-associated VAR_034569 commonName VAR_034569 VAR_034569 disease not phenotype-associated VAR_034570 commonName VAR_034570 VAR_034570 disease not phenotype-associated VAR_034571 commonName VAR_034571 VAR_034571 disease not phenotype-associated VAR_034572 commonName VAR_034572 VAR_034572 disease not phenotype-associated VAR_034573 commonName VAR_034573 VAR_034573 disease not phenotype-associated VAR_034574 commonName VAR_034574 VAR_034574 disease not phenotype-associated VAR_034575 commonName VAR_034575 VAR_034575 disease not phenotype-associated VAR_034576 commonName VAR_034576 VAR_034576 disease not phenotype-associated VAR_034577 commonName VAR_034577 VAR_034577 disease not phenotype-associated VAR_034578 commonName VAR_034578 VAR_034578 disease not phenotype-associated VAR_034579 commonName VAR_034579 VAR_034579 disease not phenotype-associated VAR_034580 commonName VAR_034580 VAR_034580 disease not phenotype-associated VAR_034581 commonName VAR_034581 VAR_034581 disease not phenotype-associated VAR_034582 commonName VAR_034582 VAR_034582 disease not phenotype-associated VAR_034584 commonName VAR_034584 VAR_034584 disease not phenotype-associated VAR_034586 commonName VAR_034586 VAR_034586 disease not phenotype-associated VAR_034587 commonName VAR_034587 VAR_034587 disease not phenotype-associated VAR_034588 commonName VAR_034588 VAR_034588 disease not phenotype-associated VAR_034589 commonName VAR_034589 VAR_034589 disease not phenotype-associated VAR_034590 commonName VAR_034590 VAR_034590 disease not phenotype-associated VAR_034591 commonName VAR_034591 VAR_034591 disease not phenotype-associated VAR_034592 commonName VAR_034592 VAR_034592 disease not phenotype-associated VAR_034593 commonName VAR_034593 VAR_034593 disease not phenotype-associated VAR_034594 commonName VAR_034594 VAR_034594 disease not phenotype-associated VAR_034595 commonName VAR_034595 VAR_034595 disease not phenotype-associated VAR_034596 commonName VAR_034596 VAR_034596 disease not phenotype-associated VAR_034597 commonName VAR_034597 VAR_034597 disease not phenotype-associated VAR_034598 commonName VAR_034598 VAR_034598 disease not phenotype-associated VAR_034599 commonName VAR_034599 VAR_034599 disease not phenotype-associated VAR_034602 commonName VAR_034602 VAR_034602 disease not phenotype-associated VAR_034603 commonName VAR_034603 VAR_034603 disease not phenotype-associated VAR_034604 commonName VAR_034604 VAR_034604 disease not phenotype-associated VAR_034605 commonName VAR_034605 VAR_034605 disease not phenotype-associated VAR_034606 commonName VAR_034606 VAR_034606 disease not phenotype-associated VAR_034607 commonName VAR_034607 VAR_034607 disease not phenotype-associated VAR_034608 commonName VAR_034608 VAR_034608 disease not phenotype-associated VAR_034609 commonName VAR_034609 HbVar.680 commonName Hb A2-Pelendri VAR_034609 disease not phenotype-associated VAR_034610 commonName VAR_034610 VAR_034610 disease not phenotype-associated VAR_034611 commonName VAR_034611 VAR_034611 disease not phenotype-associated VAR_034614 commonName VAR_034614 VAR_034614 disease not phenotype-associated VAR_034615 commonName VAR_034615 VAR_034615 disease not phenotype-associated VAR_034618 commonName VAR_034618 VAR_034618 disease not phenotype-associated VAR_034619 commonName VAR_034619 VAR_034619 disease not phenotype-associated VAR_034620 commonName VAR_034620 VAR_034620 disease not phenotype-associated VAR_034621 commonName VAR_034621 VAR_034621 disease not phenotype-associated VAR_034622 commonName VAR_034622 VAR_034622 disease not phenotype-associated VAR_034623 commonName VAR_034623 VAR_034623 disease not phenotype-associated VAR_034624 commonName VAR_034624 VAR_034624 disease not phenotype-associated VAR_034625 commonName VAR_034625 VAR_034625 disease not phenotype-associated VAR_034626 commonName VAR_034626 VAR_034626 disease not phenotype-associated VAR_034627 commonName VAR_034627 VAR_034627 disease not phenotype-associated VAR_034628 commonName VAR_034628 VAR_034628 disease not phenotype-associated VAR_034629 commonName VAR_034629 VAR_034629 disease not phenotype-associated VAR_034631 commonName VAR_034631 VAR_034631 disease not phenotype-associated VAR_034632 commonName VAR_034632 VAR_034632 disease not phenotype-associated VAR_034633 commonName VAR_034633 VAR_034633 disease not phenotype-associated VAR_034634 commonName VAR_034634 VAR_034634 disease not phenotype-associated VAR_034635 commonName VAR_034635 VAR_034635 disease not phenotype-associated VAR_034636 commonName VAR_034636 VAR_034636 disease not phenotype-associated VAR_034637 commonName VAR_034637 VAR_034637 disease not phenotype-associated VAR_034638 commonName VAR_034638 VAR_034638 disease not phenotype-associated VAR_034639 commonName VAR_034639 VAR_034639 disease not phenotype-associated VAR_034640 commonName VAR_034640 VAR_034640 disease not phenotype-associated VAR_034641 commonName VAR_034641 VAR_034641 disease not phenotype-associated VAR_034642 commonName VAR_034642 VAR_034642 disease not phenotype-associated VAR_034643 commonName VAR_034643 VAR_034643 disease not phenotype-associated VAR_034644 commonName VAR_034644 VAR_034644 disease not phenotype-associated VAR_034645 commonName VAR_034645 VAR_034645 disease not phenotype-associated VAR_034647 commonName VAR_034647 VAR_034647 disease not phenotype-associated VAR_034648 commonName VAR_034648 VAR_034648 disease not phenotype-associated VAR_034651 commonName VAR_034651 VAR_034651 disease not phenotype-associated VAR_034652 commonName VAR_034652 VAR_034652 disease not phenotype-associated VAR_034653 commonName VAR_034653 VAR_034653 disease not phenotype-associated VAR_034654 commonName VAR_034654 VAR_034654 disease not phenotype-associated VAR_034655 commonName VAR_034655 VAR_034655 disease not phenotype-associated VAR_034656 commonName VAR_034656 VAR_034656 disease not phenotype-associated VAR_034657 commonName VAR_034657 VAR_034657 disease not phenotype-associated VAR_034658 commonName VAR_034658 VAR_034658 disease not phenotype-associated VAR_034659 commonName VAR_034659 VAR_034659 disease not phenotype-associated VAR_034660 commonName VAR_034660 VAR_034660 disease not phenotype-associated VAR_034661 commonName VAR_034661 VAR_034661 disease not phenotype-associated VAR_034662 commonName VAR_034662 VAR_034662 disease not phenotype-associated VAR_034663 commonName VAR_034663 VAR_034663 disease not phenotype-associated VAR_034664 commonName VAR_034664 VAR_034664 disease not phenotype-associated VAR_034665 commonName VAR_034665 VAR_034665 disease not phenotype-associated VAR_034666 commonName VAR_034666 VAR_034666 disease not phenotype-associated VAR_034667 commonName VAR_034667 VAR_034667 disease not phenotype-associated VAR_034668 commonName VAR_034668 VAR_034668 disease not phenotype-associated VAR_034669 commonName VAR_034669 VAR_034669 disease not phenotype-associated VAR_034670 commonName VAR_034670 VAR_034670 disease not phenotype-associated VAR_034671 commonName VAR_034671 VAR_034671 disease not phenotype-associated VAR_034672 commonName VAR_034672 VAR_034672 disease not phenotype-associated VAR_034673 commonName VAR_034673 VAR_034673 disease not phenotype-associated VAR_034674 commonName VAR_034674 VAR_034674 disease not phenotype-associated VAR_034675 commonName VAR_034675 VAR_034675 disease not phenotype-associated VAR_034676 commonName VAR_034676 VAR_034676 disease not phenotype-associated VAR_034677 commonName VAR_034677 VAR_034677 disease not phenotype-associated VAR_034678 commonName VAR_034678 VAR_034678 disease not phenotype-associated VAR_034679 commonName VAR_034679 VAR_034679 disease not phenotype-associated VAR_034680 commonName VAR_034680 VAR_034680 disease not phenotype-associated VAR_034681 commonName VAR_034681 VAR_034681 disease not phenotype-associated VAR_034682 commonName VAR_034682 VAR_034682 disease not phenotype-associated VAR_034683 commonName VAR_034683 VAR_034683 disease not phenotype-associated VAR_034684 commonName VAR_034684 VAR_034684 disease not phenotype-associated VAR_034685 commonName VAR_034685 VAR_034685 disease not phenotype-associated VAR_034686 commonName VAR_034686 VAR_034686 disease not phenotype-associated VAR_034687 commonName VAR_034687 VAR_034687 disease not phenotype-associated VAR_034688 commonName VAR_034688 VAR_034688 disease not phenotype-associated VAR_034690 commonName VAR_034690 VAR_034690 disease not phenotype-associated VAR_034691 commonName VAR_034691 VAR_034691 disease not phenotype-associated VAR_034692 commonName VAR_034692 VAR_034692 disease not phenotype-associated VAR_034693 commonName VAR_034693 VAR_034693 disease not phenotype-associated VAR_034694 commonName VAR_034694 VAR_034694 disease not phenotype-associated VAR_034695 commonName VAR_034695 VAR_034695 disease not phenotype-associated VAR_034696 commonName VAR_034696 VAR_034696 disease not phenotype-associated VAR_034697 commonName VAR_034697 VAR_034697 disease not phenotype-associated VAR_034698 commonName VAR_034698 VAR_034698 disease not phenotype-associated VAR_034699 commonName VAR_034699 VAR_034699 disease not phenotype-associated VAR_034700 commonName VAR_034700 VAR_034700 disease not phenotype-associated VAR_034701 commonName VAR_034701 VAR_034701 disease phenotype-associated VAR_034701 phenoCommon Coronary artery disease, autosomal dominant, type 2 (ADCAD2) [MIM:610947] VAR_034702 commonName VAR_034702 VAR_034702 disease not phenotype-associated VAR_034703 commonName VAR_034703 VAR_034703 disease phenotype-associated VAR_034703 phenoCommon Rokitansky-Kuster-Hauser syndrome (RKH syndrome) [MIM:277000] VAR_034706 commonName VAR_034706 VAR_034706 disease phenotype-associated VAR_034706 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] VAR_034706 phenoCommon Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660] VAR_034707 commonName VAR_034707 VAR_034707 disease phenotype-associated VAR_034707 phenoCommon Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] VAR_034709 commonName VAR_034709 VAR_034709 disease phenotype-associated VAR_034709 phenoCommon Mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370] VAR_034710 commonName VAR_034710 VAR_034710 disease phenotype-associated VAR_034710 phenoCommon Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] VAR_034711 commonName VAR_034711 VAR_034711 disease not phenotype-associated VAR_034712 commonName VAR_034712 VAR_034712 disease not phenotype-associated VAR_034713 commonName VAR_034713 VAR_034713 disease not phenotype-associated VAR_034714 commonName VAR_034714 VAR_034714 disease not phenotype-associated VAR_034715 commonName VAR_034715 VAR_034715 disease not phenotype-associated VAR_034716 commonName VAR_034716 VAR_034716 disease not phenotype-associated VAR_034717 commonName VAR_034717 VAR_034717 disease not phenotype-associated VAR_034718 commonName VAR_034718 VAR_034718 disease not phenotype-associated VAR_034719 commonName VAR_034719 VAR_034719 disease not phenotype-associated VAR_034720 commonName VAR_034720 VAR_034720 disease not phenotype-associated VAR_034721 commonName VAR_034721 VAR_034721 disease not phenotype-associated VAR_034722 commonName VAR_034722 VAR_034722 disease not phenotype-associated VAR_034723 commonName VAR_034723 VAR_034723 disease not phenotype-associated VAR_034724 commonName VAR_034724 VAR_034724 disease not phenotype-associated VAR_034725 commonName VAR_034725 VAR_034725 disease not phenotype-associated VAR_034726 commonName VAR_034726 VAR_034726 disease not phenotype-associated VAR_034727 commonName VAR_034727 VAR_034727 disease not phenotype-associated VAR_034728 commonName VAR_034728 VAR_034728 disease not phenotype-associated VAR_034729 commonName VAR_034729 VAR_034729 disease not phenotype-associated VAR_034730 commonName VAR_034730 VAR_034730 disease not phenotype-associated VAR_034731 commonName VAR_034731 VAR_034731 disease not phenotype-associated VAR_034732 commonName VAR_034732 VAR_034732 disease not phenotype-associated VAR_034733 commonName VAR_034733 VAR_034733 disease not phenotype-associated VAR_034734 commonName VAR_034734 VAR_034734 disease not phenotype-associated VAR_034735 commonName VAR_034735 VAR_034735 disease not phenotype-associated VAR_034736 commonName VAR_034736 VAR_034736 disease not phenotype-associated VAR_034737 commonName VAR_034737 VAR_034737 disease not phenotype-associated VAR_034738 commonName VAR_034738 VAR_034738 disease not phenotype-associated VAR_034739 commonName VAR_034739 VAR_034739 disease not phenotype-associated VAR_034740 commonName VAR_034740 VAR_034740 disease not phenotype-associated VAR_034742 commonName VAR_034742 VAR_034742 disease not phenotype-associated VAR_034743 commonName VAR_034743 VAR_034743 disease not phenotype-associated VAR_034746 commonName VAR_034746 VAR_034746 disease not phenotype-associated VAR_034747 commonName VAR_034747 VAR_034747 disease not phenotype-associated VAR_034748 commonName VAR_034748 VAR_034748 disease not phenotype-associated VAR_034749 commonName VAR_034749 VAR_034749 disease not phenotype-associated VAR_034750 commonName VAR_034750 VAR_034750 disease not phenotype-associated VAR_034751 commonName VAR_034751 VAR_034751 disease not phenotype-associated VAR_034752 commonName VAR_034752 VAR_034752 disease not phenotype-associated VAR_034753 commonName VAR_034753 VAR_034753 disease not phenotype-associated VAR_034754 commonName VAR_034754 VAR_034754 disease not phenotype-associated VAR_034755 commonName VAR_034755 VAR_034755 disease not phenotype-associated VAR_034756 commonName VAR_034756 VAR_034756 disease not phenotype-associated VAR_034757 commonName VAR_034757 VAR_034757 disease not phenotype-associated VAR_034758 commonName VAR_034758 VAR_034758 disease not phenotype-associated VAR_034759 commonName VAR_034759 VAR_034759 disease not phenotype-associated VAR_034760 commonName VAR_034760 VAR_034760 disease not phenotype-associated VAR_034761 commonName VAR_034761 VAR_034761 disease not phenotype-associated VAR_034762 commonName VAR_034762 VAR_034762 disease not phenotype-associated VAR_034763 commonName VAR_034763 VAR_034763 disease not phenotype-associated VAR_034764 commonName VAR_034764 VAR_034764 disease not phenotype-associated VAR_034765 commonName VAR_034765 VAR_034765 disease not phenotype-associated VAR_034766 commonName VAR_034766 VAR_034766 disease not phenotype-associated VAR_034767 commonName VAR_034767 VAR_034767 disease not phenotype-associated VAR_034768 commonName VAR_034768 VAR_034768 disease not phenotype-associated VAR_034769 commonName VAR_034769 VAR_034769 disease not phenotype-associated VAR_034770 commonName VAR_034770 VAR_034770 disease not phenotype-associated VAR_034771 commonName VAR_034771 VAR_034771 disease not phenotype-associated VAR_034772 commonName VAR_034772 VAR_034772 disease not phenotype-associated VAR_034773 commonName VAR_034773 VAR_034773 disease not phenotype-associated VAR_034774 commonName VAR_034774 VAR_034774 disease not phenotype-associated VAR_034775 commonName VAR_034775 VAR_034775 disease not phenotype-associated VAR_034776 commonName VAR_034776 VAR_034776 disease not phenotype-associated VAR_034777 commonName VAR_034777 VAR_034777 disease not phenotype-associated VAR_034778 commonName VAR_034778 VAR_034778 disease not phenotype-associated VAR_034779 commonName VAR_034779 VAR_034779 disease not phenotype-associated VAR_034782 commonName VAR_034782 VAR_034782 disease not phenotype-associated VAR_034783 commonName VAR_034783 VAR_034783 disease not phenotype-associated VAR_034791 commonName VAR_034791 VAR_034791 disease not phenotype-associated VAR_034792 commonName VAR_034792 VAR_034792 disease not phenotype-associated VAR_034793 commonName VAR_034793 VAR_034793 disease not phenotype-associated VAR_034795 commonName VAR_034795 VAR_034795 disease not phenotype-associated VAR_034797 commonName VAR_034797 VAR_034797 disease not phenotype-associated VAR_034798 commonName VAR_034798 VAR_034798 disease not phenotype-associated VAR_034799 commonName VAR_034799 VAR_034799 disease not phenotype-associated VAR_034800 commonName VAR_034800 VAR_034800 disease not phenotype-associated VAR_034801 commonName VAR_034801 VAR_034801 disease not phenotype-associated VAR_034802 commonName VAR_034802 VAR_034802 disease phenotype-associated VAR_034802 phenoCommon XFE progeroid syndrome (XFEPS) [MIM:610965] VAR_034803 commonName VAR_034803 VAR_034803 disease phenotype-associated VAR_034803 phenoCommon Spinal muscular atrophy autosomal recessive type 2 (SMA2) [MIM:253550] VAR_034804 commonName VAR_034804 VAR_034804 disease phenotype-associated VAR_034804 phenoCommon Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400] VAR_034805 commonName VAR_034805 VAR_034805 disease phenotype-associated VAR_034805 phenoCommon Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400] VAR_034806 commonName VAR_034806 VAR_034806 disease phenotype-associated VAR_034806 phenoCommon Spinal muscular atrophy autosomal recessive type 2 (SMA2) [MIM:253550] VAR_034807 commonName VAR_034807 VAR_034807 disease phenotype-associated VAR_034807 phenoCommon Spinal muscular atrophy autosomal recessive type 1 (SMA1) [MIM:253300] VAR_034808 commonName VAR_034808 VAR_034808 disease phenotype-associated VAR_034808 phenoCommon Spinal muscular atrophy autosomal recessive type 1 (SMA1) [MIM:253300] VAR_034809 commonName VAR_034809 VAR_034809 disease phenotype-associated VAR_034809 phenoCommon Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400] VAR_034810 commonName VAR_034810 VAR_034810 disease not phenotype-associated VAR_034811 commonName VAR_034811 VAR_034811 disease not phenotype-associated VAR_034812 commonName VAR_034812 VAR_034812 disease not phenotype-associated VAR_034813 commonName VAR_034813 VAR_034813 disease not phenotype-associated VAR_034814 commonName VAR_034814 VAR_034814 disease not phenotype-associated VAR_034815 commonName VAR_034815 VAR_034816 commonName VAR_034816 VAR_034817 commonName VAR_034817 VAR_034817 disease not phenotype-associated VAR_034818 commonName VAR_034818 VAR_034818 disease not phenotype-associated VAR_034819 commonName VAR_034819 VAR_034819 disease not phenotype-associated VAR_034820 commonName VAR_034820 VAR_034820 disease not phenotype-associated VAR_034821 commonName VAR_034821 VAR_034821 disease not phenotype-associated VAR_034823 commonName VAR_034823 VAR_034823 disease not phenotype-associated VAR_034824 commonName VAR_034824 VAR_034824 disease not phenotype-associated VAR_034825 commonName VAR_034825 VAR_034825 disease not phenotype-associated VAR_034826 commonName VAR_034826 VAR_034826 disease not phenotype-associated VAR_034827 commonName VAR_034827 VAR_034827 disease not phenotype-associated VAR_034828 commonName VAR_034828 VAR_034828 disease not phenotype-associated VAR_034829 commonName VAR_034829 VAR_034829 disease not phenotype-associated VAR_034830 commonName VAR_034830 VAR_034830 disease not phenotype-associated VAR_034831 commonName VAR_034831 VAR_034831 disease not phenotype-associated VAR_034832 commonName VAR_034832 VAR_034832 disease not phenotype-associated VAR_034833 commonName VAR_034833 VAR_034833 disease not phenotype-associated VAR_034834 commonName VAR_034834 VAR_034834 disease not phenotype-associated VAR_034835 commonName VAR_034835 VAR_034835 disease not phenotype-associated VAR_034836 commonName VAR_034836 VAR_034836 disease not phenotype-associated VAR_034837 commonName VAR_034837 VAR_034837 disease not phenotype-associated VAR_034838 commonName VAR_034838 VAR_034838 disease not phenotype-associated VAR_034841 commonName VAR_034841 VAR_034841 disease not phenotype-associated VAR_034842 commonName VAR_034842 VAR_034842 disease not phenotype-associated VAR_034843 commonName VAR_034843 VAR_034843 disease not phenotype-associated VAR_034844 commonName VAR_034844 VAR_034844 disease phenotype-associated VAR_034844 phenoCommon Dystonia type 8 (DYT8) [MIM:118800] VAR_034845 commonName VAR_034845 VAR_034845 disease phenotype-associated VAR_034845 phenoCommon Dystonia type 8 (DYT8) [MIM:118800] VAR_034846 commonName VAR_034846 VAR_034846 disease not phenotype-associated VAR_034847 commonName VAR_034847 VAR_034847 disease not phenotype-associated VAR_034848 commonName VAR_034848 VAR_034848 disease not phenotype-associated VAR_034849 commonName VAR_034849 VAR_034849 disease not phenotype-associated VAR_034850 commonName VAR_034850 VAR_034850 disease not phenotype-associated VAR_034851 commonName VAR_034851 VAR_034851 disease not phenotype-associated VAR_034852 commonName VAR_034852 VAR_034852 disease not phenotype-associated VAR_034853 commonName VAR_034853 VAR_034853 disease not phenotype-associated VAR_034854 commonName VAR_034854 VAR_034854 disease not phenotype-associated VAR_034855 commonName VAR_034855 VAR_034855 disease not phenotype-associated VAR_034856 commonName VAR_034856 VAR_034856 disease not phenotype-associated VAR_034857 commonName VAR_034857 VAR_034857 disease not phenotype-associated VAR_034858 commonName VAR_034858 VAR_034858 disease not phenotype-associated VAR_034859 commonName VAR_034859 VAR_034859 disease not phenotype-associated VAR_034860 commonName VAR_034860 VAR_034860 disease not phenotype-associated VAR_034861 commonName VAR_034861 VAR_034861 disease not phenotype-associated VAR_034862 commonName VAR_034862 VAR_034862 disease not phenotype-associated VAR_034863 commonName VAR_034863 VAR_034863 disease not phenotype-associated VAR_034864 commonName VAR_034864 VAR_034864 disease not phenotype-associated VAR_034865 commonName VAR_034865 VAR_034865 disease not phenotype-associated VAR_034866 commonName VAR_034866 VAR_034866 disease phenotype-associated VAR_034866 phenoCommon Complement factor D deficiency (CFDD) [MIM:613912] VAR_034867 commonName VAR_034867 VAR_034867 disease phenotype-associated VAR_034867 phenoCommon Complement factor D deficiency (CFDD) [MIM:613912] VAR_034868 commonName VAR_034868 VAR_034868 disease not phenotype-associated VAR_034869 commonName VAR_034869 VAR_034869 disease not phenotype-associated VAR_034870 commonName VAR_034870 VAR_034871 commonName VAR_034871 VAR_034871 disease phenotype-associated VAR_034871 phenoCommon Ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant (ADEDAID) [MIM:612132] VAR_034872 commonName VAR_034872 VAR_034872 disease not phenotype-associated VAR_034873 commonName VAR_034873 VAR_034873 disease not phenotype-associated VAR_034874 commonName VAR_034874 VAR_034874 disease not phenotype-associated VAR_034875 commonName VAR_034875 VAR_034875 disease not phenotype-associated VAR_034876 commonName VAR_034876 VAR_034876 disease not phenotype-associated VAR_034877 commonName VAR_034877 VAR_034877 disease not phenotype-associated VAR_034878 commonName VAR_034878 VAR_034878 disease not phenotype-associated VAR_034879 commonName VAR_034879 VAR_034879 disease phenotype-associated VAR_034879 phenoCommon Coenzyme Q10 deficiency, primary, type 2 (COQ10D2) [MIM:614651] VAR_034880 commonName VAR_034880 VAR_034880 disease not phenotype-associated VAR_034881 commonName VAR_034881 VAR_034881 disease not phenotype-associated VAR_034882 commonName VAR_034882 VAR_034882 disease not phenotype-associated VAR_034883 commonName VAR_034883 VAR_034883 disease not phenotype-associated VAR_034884 commonName VAR_034884 VAR_034884 disease not phenotype-associated VAR_034885 commonName VAR_034885 VAR_034885 disease not phenotype-associated VAR_034886 commonName VAR_034886 VAR_034886 disease not phenotype-associated VAR_034887 commonName VAR_034887 VAR_034887 disease not phenotype-associated VAR_034888 commonName VAR_034888 VAR_034888 disease not phenotype-associated VAR_034889 commonName VAR_034889 VAR_034889 disease not phenotype-associated VAR_034890 commonName VAR_034890 VAR_034890 disease not phenotype-associated VAR_034891 commonName VAR_034891 VAR_034891 disease phenotype-associated VAR_034891 phenoCommon Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450] VAR_034892 commonName VAR_034892 VAR_034892 disease phenotype-associated VAR_034892 phenoCommon Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450] VAR_034893 commonName VAR_034893 VAR_034893 disease not phenotype-associated VAR_034894 commonName VAR_034894 VAR_034894 disease not phenotype-associated VAR_034895 commonName VAR_034895 VAR_034895 disease phenotype-associated VAR_034895 phenoCommon Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450] VAR_034896 commonName VAR_034896 VAR_034896 disease not phenotype-associated VAR_034897 commonName VAR_034897 VAR_034897 disease not phenotype-associated VAR_034898 commonName VAR_034898 VAR_034898 disease not phenotype-associated VAR_034899 commonName VAR_034899 VAR_034899 disease phenotype-associated VAR_034899 phenoCommon Hypophosphatemic nephrolithiasis/osteoporosis type 2 (NPHLOP2) [MIM:612287] VAR_034901 commonName VAR_034901 VAR_034901 disease not phenotype-associated VAR_034902 commonName VAR_034902 VAR_034902 disease phenotype-associated VAR_034902 phenoCommon Acrocephalopolysyndactyly type 2 (ACPS2) [MIM:201000] VAR_034903 commonName VAR_034903 VAR_034903 disease not phenotype-associated VAR_034904 commonName VAR_034904 VAR_034904 disease phenotype-associated VAR_034904 phenoCommon Infantile striatonigral degeneration (SNDI) [MIM:271930] VAR_034905 commonName VAR_034905 VAR_034905 disease phenotype-associated VAR_034905 phenoCommon Microphthalmia isolated type 3 (MCOP3) [MIM:611038] VAR_034906 commonName VAR_034906 VAR_034906 disease phenotype-associated VAR_034906 phenoCommon Choreoathetosis, hypothyroidism, and neonatal respiratory distress (CHNRD) [MIM:610978] VAR_034907 commonName VAR_034907 VAR_034907 disease phenotype-associated VAR_034907 phenoCommon Complement factor I deficiency (CFI deficiency) [MIM:610984] VAR_034908 commonName VAR_034908 VAR_034908 disease not phenotype-associated VAR_034909 commonName VAR_034909 VAR_034909 disease not phenotype-associated VAR_034910 commonName VAR_034910 VAR_034910 disease not phenotype-associated VAR_034911 commonName VAR_034911 VAR_034911 disease not phenotype-associated VAR_034912 commonName VAR_034912 VAR_034912 disease not phenotype-associated VAR_034913 commonName VAR_034913 VAR_034913 disease not phenotype-associated VAR_034914 commonName VAR_034914 VAR_034914 disease not phenotype-associated VAR_034915 commonName VAR_034915 VAR_034915 disease not phenotype-associated VAR_034916 commonName VAR_034916 VAR_034916 disease not phenotype-associated VAR_034917 commonName VAR_034917 VAR_034917 disease not phenotype-associated VAR_034918 commonName VAR_034918 VAR_034918 disease not phenotype-associated VAR_034919 commonName VAR_034919 VAR_034919 disease not phenotype-associated VAR_034921 commonName VAR_034921 VAR_034921 disease not phenotype-associated VAR_034922 commonName VAR_034922 VAR_034922 disease phenotype-associated VAR_034922 phenoCommon Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900] VAR_034923 commonName VAR_034923 VAR_034923 disease not phenotype-associated VAR_034924 commonName VAR_034924 VAR_034924 disease not phenotype-associated VAR_034925 commonName VAR_034925 VAR_034925 disease not phenotype-associated VAR_034926 commonName VAR_034926 VAR_034926 disease phenotype-associated VAR_034926 phenoCommon Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900] VAR_034927 commonName VAR_034927 VAR_034927 disease not phenotype-associated VAR_034928 commonName VAR_034928 VAR_034928 disease not phenotype-associated VAR_034929 commonName VAR_034929 VAR_034929 disease not phenotype-associated VAR_034930 commonName VAR_034930 VAR_034930 disease not phenotype-associated VAR_034931 commonName VAR_034931 VAR_034931 disease not phenotype-associated VAR_034932 commonName VAR_034932 VAR_034932 disease phenotype-associated VAR_034932 phenoCommon Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900] VAR_034933 commonName VAR_034933 VAR_034933 disease not phenotype-associated VAR_034934 commonName VAR_034934 VAR_034934 disease not phenotype-associated VAR_034936 commonName VAR_034936 VAR_034936 disease not phenotype-associated VAR_034937 commonName VAR_034937 VAR_034937 disease not phenotype-associated VAR_034938 commonName VAR_034938 VAR_034938 disease not phenotype-associated VAR_034939 commonName VAR_034939 VAR_034939 disease not phenotype-associated VAR_034941 commonName VAR_034941 VAR_034941 disease not phenotype-associated VAR_034942 commonName VAR_034942 VAR_034942 disease not phenotype-associated VAR_034943 commonName VAR_034943 VAR_034943 disease not phenotype-associated VAR_034944 commonName VAR_034944 VAR_034944 disease not phenotype-associated VAR_034945 commonName VAR_034945 VAR_034945 disease phenotype-associated VAR_034945 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] VAR_034946 commonName VAR_034946 VAR_034946 disease phenotype-associated VAR_034946 phenoCommon Corneal dystrophy and perceptive deafness (CDPD) [MIM:217400] VAR_034947 commonName VAR_034947 VAR_034947 disease phenotype-associated VAR_034947 phenoCommon Corneal dystrophy and perceptive deafness (CDPD) [MIM:217400] VAR_034948 commonName VAR_034948 VAR_034948 disease phenotype-associated VAR_034948 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] VAR_034949 commonName VAR_034949 VAR_034949 disease phenotype-associated VAR_034949 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] VAR_034950 commonName VAR_034950 VAR_034950 disease phenotype-associated VAR_034950 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] VAR_034951 commonName VAR_034951 VAR_034951 disease phenotype-associated VAR_034951 phenoCommon Corneal dystrophy and perceptive deafness (CDPD) [MIM:217400] VAR_034952 commonName VAR_034952 VAR_034952 disease not phenotype-associated VAR_034953 commonName VAR_034953 VAR_034953 disease phenotype-associated VAR_034953 phenoCommon Corneal dystrophy and perceptive deafness (CDPD) [MIM:217400] VAR_034954 commonName VAR_034954 VAR_034954 disease phenotype-associated VAR_034954 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] VAR_034955 commonName VAR_034955 VAR_034955 disease phenotype-associated VAR_034955 phenoCommon Cataract congenital non-nuclear polymorphic autosomal dominant (CCP) [MIM:601286] VAR_034956 commonName VAR_034956 VAR_034956 disease phenotype-associated VAR_034956 phenoCommon Cataract congenital non-nuclear polymorphic autosomal dominant (CCP) [MIM:601286] VAR_034957 commonName VAR_034957 VAR_034958 commonName VAR_034958 VAR_034958 disease not phenotype-associated VAR_034959 commonName VAR_034959 VAR_034959 disease not phenotype-associated VAR_034960 commonName VAR_034960 VAR_034960 disease not phenotype-associated VAR_034961 commonName VAR_034961 VAR_034961 disease not phenotype-associated VAR_034962 commonName VAR_034962 VAR_034962 disease not phenotype-associated VAR_034963 commonName VAR_034963 VAR_034963 disease not phenotype-associated VAR_034964 commonName VAR_034964 VAR_034964 disease not phenotype-associated VAR_034965 commonName VAR_034965 VAR_034965 disease not phenotype-associated VAR_034966 commonName VAR_034966 VAR_034966 disease not phenotype-associated VAR_034967 commonName VAR_034967 VAR_034967 disease not phenotype-associated VAR_034968 commonName VAR_034968 VAR_034968 disease not phenotype-associated VAR_034969 commonName VAR_034969 VAR_034969 disease not phenotype-associated VAR_034970 commonName VAR_034970 VAR_034970 disease not phenotype-associated VAR_034971 commonName VAR_034971 VAR_034971 disease not phenotype-associated VAR_034972 commonName VAR_034972 VAR_034972 disease not phenotype-associated VAR_034973 commonName VAR_034973 VAR_034973 disease not phenotype-associated VAR_034974 commonName VAR_034974 VAR_034974 disease not phenotype-associated VAR_034975 commonName VAR_034975 VAR_034975 disease not phenotype-associated VAR_034976 commonName VAR_034976 VAR_034976 disease not phenotype-associated VAR_034978 commonName VAR_034978 VAR_034978 disease not phenotype-associated VAR_034979 commonName VAR_034979 VAR_034980 commonName VAR_034980 VAR_034981 commonName VAR_034981 VAR_034981 disease not phenotype-associated VAR_034982 commonName VAR_034982 VAR_034985 commonName VAR_034985 VAR_034985 disease phenotype-associated VAR_034985 phenoCommon Craniosynostosis type 1 (CRS1) [MIM:123100] VAR_034986 commonName VAR_034986 VAR_034986 disease phenotype-associated VAR_034986 phenoCommon Craniosynostosis type 1 (CRS1) [MIM:123100] VAR_034987 commonName VAR_034987 VAR_034987 disease phenotype-associated VAR_034987 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_034988 commonName VAR_034988 VAR_034988 disease phenotype-associated VAR_034988 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_034989 commonName VAR_034989 VAR_034989 disease phenotype-associated VAR_034989 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_034991 commonName VAR_034991 VAR_034991 disease phenotype-associated VAR_034991 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_034992 commonName VAR_034992 VAR_034992 disease phenotype-associated VAR_034992 phenoCommon Von Hippel-Lindau disease (VHLD) [MIM:193300] VAR_034993 commonName VAR_034993 VAR_034993 disease phenotype-associated VAR_034993 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_034994 commonName VAR_034994 VAR_034994 disease phenotype-associated VAR_034994 phenoCommon Familial erythrocytosis type 2 (ECYT2) [MIM:263400] VAR_034995 commonName VAR_034995 VAR_034996 commonName VAR_034996 VAR_034996 disease phenotype-associated VAR_034996 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_034997 commonName VAR_034997 VAR_034997 disease phenotype-associated VAR_034997 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_034998 commonName VAR_034998 VAR_034998 disease phenotype-associated VAR_034998 phenoCommon Renal cell carcinoma (RCC) [MIM:144700] VAR_034999 commonName VAR_034999 VAR_034999 disease phenotype-associated VAR_034999 phenoCommon Familial erythrocytosis type 2 (ECYT2) [MIM:263400] VAR_035000 commonName VAR_035000 VAR_035000 disease phenotype-associated VAR_035000 phenoCommon Familial erythrocytosis type 2 (ECYT2) [MIM:263400] VAR_035001 commonName VAR_035001 VAR_035001 disease phenotype-associated VAR_035001 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_035002 commonName VAR_035002 VAR_035002 disease not phenotype-associated VAR_035003 commonName VAR_035003 VAR_035003 disease not phenotype-associated VAR_035004 commonName VAR_035004 VAR_035004 disease not phenotype-associated VAR_035005 commonName VAR_035005 VAR_035005 disease not phenotype-associated VAR_035006 commonName VAR_035006 VAR_035006 disease phenotype-associated VAR_035006 phenoCommon Asphyxiating thoracic dystrophy type 2 (ATD2) [MIM:611263] VAR_035010 commonName VAR_035010 VAR_035010 disease not phenotype-associated VAR_035011 commonName VAR_035011 VAR_035011 disease not phenotype-associated VAR_035012 commonName VAR_035012 VAR_035012 disease not phenotype-associated VAR_035013 commonName VAR_035013 VAR_035013 disease phenotype-associated VAR_035013 phenoCommon Familial atrial standstill (FAS) [MIM:108770] VAR_035014 commonName VAR_035014 VAR_035014 disease phenotype-associated VAR_035014 phenoCommon Familial atrial standstill (FAS) [MIM:108770] VAR_035016 commonName VAR_035016 VAR_035016 disease phenotype-associated VAR_035016 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_035017 commonName VAR_035017 VAR_035017 disease not phenotype-associated VAR_035018 commonName VAR_035018 VAR_035018 disease not phenotype-associated VAR_035020 commonName VAR_035020 VAR_035020 disease not phenotype-associated VAR_035021 commonName VAR_035021 VAR_035021 disease not phenotype-associated VAR_035022 commonName VAR_035022 VAR_035022 disease not phenotype-associated VAR_035024 commonName VAR_035024 VAR_035024 disease not phenotype-associated VAR_035025 commonName VAR_035025 VAR_035025 disease phenotype-associated VAR_035025 phenoCommon Conotruncal heart malformations (CTHM) [MIM:217095] VAR_035025 phenoCommon Velocardiofacial syndrome (VCFS) [MIM:192430] VAR_035026 commonName VAR_035026 VAR_035026 disease phenotype-associated VAR_035026 phenoCommon Velocardiofacial syndrome (VCFS) [MIM:192430] VAR_035027 commonName VAR_035027 VAR_035027 disease phenotype-associated VAR_035027 phenoCommon Ring dermoid of cornea (RDC) [MIM:180550] VAR_035029 commonName VAR_035029 VAR_035029 disease phenotype-associated VAR_035029 phenoCommon Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500] VAR_035030 commonName VAR_035030 VAR_035030 disease not phenotype-associated VAR_035031 commonName VAR_035031 VAR_035031 disease not phenotype-associated VAR_035032 commonName VAR_035032 VAR_035032 disease not phenotype-associated VAR_035033 commonName VAR_035033 VAR_035033 disease not phenotype-associated VAR_035036 commonName VAR_035036 VAR_035036 disease not phenotype-associated VAR_035037 commonName VAR_035037 VAR_035037 disease not phenotype-associated VAR_035038 commonName VAR_035038 VAR_035038 disease not phenotype-associated VAR_035039 commonName VAR_035039 VAR_035039 disease not phenotype-associated VAR_035041 commonName VAR_035041 VAR_035041 disease not phenotype-associated VAR_035042 commonName VAR_035042 VAR_035042 disease not phenotype-associated VAR_035043 commonName VAR_035043 VAR_035043 disease not phenotype-associated VAR_035044 commonName VAR_035044 VAR_035044 disease not phenotype-associated VAR_035045 commonName VAR_035045 VAR_035045 disease not phenotype-associated VAR_035046 commonName VAR_035046 VAR_035046 disease not phenotype-associated VAR_035048 commonName VAR_035048 VAR_035048 disease not phenotype-associated VAR_035049 commonName VAR_035049 VAR_035049 disease not phenotype-associated VAR_035052 commonName VAR_035052 VAR_035052 disease not phenotype-associated VAR_035053 commonName VAR_035053 VAR_035053 disease not phenotype-associated VAR_035054 commonName VAR_035054 VAR_035054 disease not phenotype-associated VAR_035055 commonName VAR_035055 VAR_035055 disease not phenotype-associated VAR_035056 commonName VAR_035056 VAR_035056 disease not phenotype-associated VAR_035057 commonName VAR_035057 VAR_035057 disease not phenotype-associated VAR_035058 commonName VAR_035058 VAR_035058 disease not phenotype-associated VAR_035059 commonName VAR_035059 VAR_035059 disease not phenotype-associated VAR_035060 commonName VAR_035060 VAR_035060 disease not phenotype-associated VAR_035061 commonName VAR_035061 VAR_035061 disease not phenotype-associated VAR_035062 commonName VAR_035062 VAR_035062 disease not phenotype-associated VAR_035064 commonName VAR_035064 VAR_035064 disease phenotype-associated VAR_035064 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_035065 commonName VAR_035065 VAR_035065 disease phenotype-associated VAR_035065 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_035066 commonName VAR_035066 VAR_035066 disease phenotype-associated VAR_035066 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_035067 commonName VAR_035067 VAR_035067 disease phenotype-associated VAR_035067 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_035069 commonName VAR_035069 VAR_035069 disease phenotype-associated VAR_035069 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_035070 commonName VAR_035070 VAR_035070 disease phenotype-associated VAR_035070 phenoCommon Hyperekplexia type 2 (HKPX2) [MIM:614619] VAR_035071 commonName VAR_035071 VAR_035071 disease phenotype-associated VAR_035071 phenoCommon Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] VAR_035072 commonName VAR_035072 VAR_035072 disease phenotype-associated VAR_035072 phenoCommon Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] VAR_035073 commonName VAR_035073 VAR_035073 disease phenotype-associated VAR_035073 phenoCommon Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] VAR_035074 commonName VAR_035074 VAR_035074 disease phenotype-associated VAR_035074 phenoCommon Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] VAR_035075 commonName VAR_035075 VAR_035075 disease phenotype-associated VAR_035075 phenoCommon Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] VAR_035076 commonName VAR_035076 VAR_035076 disease phenotype-associated VAR_035076 phenoCommon Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] VAR_035077 commonName VAR_035077 VAR_035077 disease phenotype-associated VAR_035077 phenoCommon Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] VAR_035078 commonName VAR_035078 VAR_035078 disease phenotype-associated VAR_035078 phenoCommon Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] VAR_035079 commonName VAR_035079 VAR_035079 disease phenotype-associated VAR_035079 phenoCommon Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] VAR_035080 commonName VAR_035080 VAR_035080 disease phenotype-associated VAR_035080 phenoCommon Rubinstein-Taybi syndrome type 1 (RSTS1) [MIM:180849] VAR_035081 commonName VAR_035081 VAR_035081 disease phenotype-associated VAR_035081 phenoCommon Rubinstein-Taybi syndrome type 1 (RSTS1) [MIM:180849] VAR_035082 commonName VAR_035082 VAR_035082 disease phenotype-associated VAR_035082 phenoCommon Rubinstein-Taybi syndrome type 1 (RSTS1) [MIM:180849] VAR_035083 commonName VAR_035083 VAR_035083 disease phenotype-associated VAR_035083 phenoCommon Rubinstein-Taybi syndrome type 1 (RSTS1) [MIM:180849] VAR_035084 commonName VAR_035084 VAR_035084 disease phenotype-associated VAR_035084 phenoCommon Rubinstein-Taybi syndrome type 1 (RSTS1) [MIM:180849] VAR_035086 commonName VAR_035086 VAR_035086 disease phenotype-associated VAR_035086 phenoCommon Renal tubular dysgenesis (RTD) [MIM:267430] VAR_035087 commonName VAR_035087 VAR_035087 disease phenotype-associated VAR_035087 phenoCommon Renal tubular dysgenesis (RTD) [MIM:267430] VAR_035088 commonName VAR_035088 VAR_035088 disease phenotype-associated VAR_035088 phenoCommon Renal tubular dysgenesis (RTD) [MIM:267430] VAR_035089 commonName VAR_035089 VAR_035089 disease phenotype-associated VAR_035089 phenoCommon Focal dermal hypoplasia (FODH) [MIM:305600] VAR_035090 commonName VAR_035090 VAR_035090 disease phenotype-associated VAR_035090 phenoCommon Focal dermal hypoplasia (FODH) [MIM:305600] VAR_035093 commonName VAR_035093 VAR_035093 disease phenotype-associated VAR_035093 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] VAR_035094 commonName VAR_035094 VAR_035094 disease phenotype-associated VAR_035094 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] VAR_035095 commonName VAR_035095 VAR_035095 disease phenotype-associated VAR_035095 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] VAR_035096 commonName VAR_035096 VAR_035096 disease phenotype-associated VAR_035096 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] VAR_035097 commonName VAR_035097 VAR_035097 disease phenotype-associated VAR_035097 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] VAR_035098 commonName VAR_035098 VAR_035098 disease phenotype-associated VAR_035098 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] VAR_035099 commonName VAR_035099 VAR_035099 disease phenotype-associated VAR_035099 phenoCommon Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] VAR_035100 commonName VAR_035100 VAR_035100 disease phenotype-associated VAR_035100 phenoCommon Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] VAR_035101 commonName VAR_035101 VAR_035101 disease phenotype-associated VAR_035101 phenoCommon Familial hypertrophic cardiomyopathy type 15 (CMH15) [MIM:613255] VAR_035102 commonName VAR_035102 VAR_035102 disease not phenotype-associated VAR_035103 commonName VAR_035103 VAR_035103 disease not phenotype-associated VAR_035106 commonName VAR_035106 VAR_035106 disease not phenotype-associated VAR_035107 commonName VAR_035107 VAR_035107 disease not phenotype-associated VAR_035108 commonName VAR_035108 VAR_035108 disease not phenotype-associated VAR_035109 commonName VAR_035109 VAR_035109 disease not phenotype-associated VAR_035110 commonName VAR_035110 VAR_035110 disease not phenotype-associated VAR_035111 commonName VAR_035111 VAR_035111 disease not phenotype-associated VAR_035112 commonName VAR_035112 VAR_035112 disease not phenotype-associated VAR_035113 commonName VAR_035113 VAR_035113 disease not phenotype-associated VAR_035114 commonName VAR_035114 VAR_035114 disease not phenotype-associated VAR_035115 commonName VAR_035115 VAR_035115 disease not phenotype-associated VAR_035116 commonName VAR_035116 VAR_035116 disease not phenotype-associated VAR_035117 commonName VAR_035117 VAR_035117 disease not phenotype-associated VAR_035118 commonName VAR_035118 VAR_035118 disease not phenotype-associated VAR_035119 commonName VAR_035119 VAR_035119 disease not phenotype-associated VAR_035120 commonName VAR_035120 VAR_035120 disease not phenotype-associated VAR_035121 commonName VAR_035121 VAR_035121 disease not phenotype-associated VAR_035122 commonName VAR_035122 VAR_035122 disease not phenotype-associated VAR_035123 commonName VAR_035123 VAR_035123 disease not phenotype-associated VAR_035124 commonName VAR_035124 VAR_035124 disease not phenotype-associated VAR_035125 commonName VAR_035125 VAR_035125 disease not phenotype-associated VAR_035126 commonName VAR_035126 VAR_035126 disease not phenotype-associated VAR_035127 commonName VAR_035127 VAR_035127 disease phenotype-associated VAR_035127 phenoCommon Ectodermal dysplasia Rapp-Hodgkin type (EDRH) [MIM:129400] VAR_035127 phenoCommon Non-syndromic orofacial cleft type 8 (OFC8) [MIM:129400] VAR_035128 commonName VAR_035128 VAR_035128 disease phenotype-associated VAR_035128 phenoCommon Ectodermal dysplasia Rapp-Hodgkin type (EDRH) [MIM:129400] VAR_035129 commonName VAR_035129 VAR_035129 disease phenotype-associated VAR_035129 phenoCommon Ectodermal dysplasia Rapp-Hodgkin type (EDRH) [MIM:129400] VAR_035130 commonName VAR_035130 VAR_035130 disease not phenotype-associated VAR_035131 commonName VAR_035131 VAR_035131 disease not phenotype-associated VAR_035132 commonName VAR_035132 VAR_035132 disease not phenotype-associated VAR_035133 commonName VAR_035133 VAR_035133 disease not phenotype-associated VAR_035134 commonName VAR_035134 VAR_035134 disease not phenotype-associated VAR_035135 commonName VAR_035135 VAR_035135 disease not phenotype-associated VAR_035136 commonName VAR_035136 VAR_035136 disease not phenotype-associated VAR_035137 commonName VAR_035137 VAR_035137 disease not phenotype-associated VAR_035142 commonName VAR_035142 VAR_035142 disease not phenotype-associated VAR_035144 commonName VAR_035144 VAR_035144 disease not phenotype-associated VAR_035145 commonName VAR_035145 VAR_035145 disease not phenotype-associated VAR_035146 commonName VAR_035146 VAR_035146 disease not phenotype-associated VAR_035147 commonName VAR_035147 VAR_035147 disease not phenotype-associated VAR_035148 commonName VAR_035148 VAR_035148 disease not phenotype-associated VAR_035149 commonName VAR_035149 VAR_035149 disease not phenotype-associated VAR_035150 commonName VAR_035150 VAR_035150 disease not phenotype-associated VAR_035151 commonName VAR_035151 VAR_035151 disease not phenotype-associated VAR_035152 commonName VAR_035152 VAR_035152 disease not phenotype-associated VAR_035153 commonName VAR_035153 VAR_035153 disease not phenotype-associated VAR_035154 commonName VAR_035154 VAR_035154 disease not phenotype-associated VAR_035155 commonName VAR_035155 VAR_035155 disease not phenotype-associated VAR_035156 commonName VAR_035156 VAR_035156 disease not phenotype-associated VAR_035157 commonName VAR_035157 VAR_035157 disease not phenotype-associated VAR_035158 commonName VAR_035158 VAR_035158 disease not phenotype-associated VAR_035159 commonName VAR_035159 VAR_035159 disease not phenotype-associated VAR_035160 commonName VAR_035160 VAR_035160 disease not phenotype-associated VAR_035161 commonName VAR_035161 VAR_035161 disease not phenotype-associated VAR_035162 commonName VAR_035162 VAR_035162 disease not phenotype-associated VAR_035163 commonName VAR_035163 VAR_035163 disease not phenotype-associated VAR_035164 commonName VAR_035164 VAR_035164 disease not phenotype-associated VAR_035166 commonName VAR_035166 VAR_035166 disease not phenotype-associated VAR_035167 commonName VAR_035167 VAR_035167 disease not phenotype-associated VAR_035168 commonName VAR_035168 VAR_035168 disease not phenotype-associated VAR_035169 commonName VAR_035169 VAR_035169 disease not phenotype-associated VAR_035170 commonName VAR_035170 VAR_035170 disease not phenotype-associated VAR_035173 commonName VAR_035173 VAR_035173 disease phenotype-associated VAR_035173 phenoCommon Hepatocellular carcinoma (HCC) [MIM:114550] VAR_035174 commonName VAR_035174 VAR_035174 disease not phenotype-associated VAR_035175 commonName VAR_035175 VAR_035176 commonName VAR_035176 VAR_035176 disease not phenotype-associated VAR_035177 commonName VAR_035177 VAR_035177 disease not phenotype-associated VAR_035178 commonName VAR_035178 VAR_035178 disease phenotype-associated VAR_035178 phenoCommon Hepatocellular carcinoma (HCC) [MIM:114550] VAR_035179 commonName VAR_035179 VAR_035179 disease not phenotype-associated VAR_035180 commonName VAR_035180 VAR_035180 disease phenotype-associated VAR_035180 phenoCommon Hepatocellular carcinoma (HCC) [MIM:114550] VAR_035185 commonName VAR_035185 VAR_035185 disease not phenotype-associated VAR_035186 commonName VAR_035186 VAR_035186 disease not phenotype-associated VAR_035187 commonName VAR_035187 VAR_035187 disease not phenotype-associated VAR_035193 commonName VAR_035193 VAR_035193 disease not phenotype-associated VAR_035194 commonName VAR_035194 VAR_035194 disease not phenotype-associated VAR_035195 commonName VAR_035195 VAR_035195 disease not phenotype-associated VAR_035197 commonName VAR_035197 VAR_035197 disease not phenotype-associated VAR_035198 commonName VAR_035198 VAR_035198 disease not phenotype-associated VAR_035199 commonName VAR_035199 VAR_035199 disease not phenotype-associated VAR_035200 commonName VAR_035200 VAR_035200 disease not phenotype-associated VAR_035201 commonName VAR_035201 VAR_035201 disease not phenotype-associated VAR_035202 commonName VAR_035202 VAR_035202 disease not phenotype-associated VAR_035203 commonName VAR_035203 VAR_035203 disease not phenotype-associated VAR_035204 commonName VAR_035204 VAR_035204 disease not phenotype-associated VAR_035205 commonName VAR_035205 VAR_035205 disease not phenotype-associated VAR_035206 commonName VAR_035206 VAR_035206 disease not phenotype-associated VAR_035207 commonName VAR_035207 VAR_035207 disease not phenotype-associated VAR_035209 commonName VAR_035209 VAR_035209 disease phenotype-associated VAR_035209 phenoCommon Sacral defect with anterior meningocele (SDAM) [MIM:600145] VAR_035210 commonName VAR_035210 VAR_035210 disease phenotype-associated VAR_035210 phenoCommon Neural tube defects (NTD) [MIM:182940] VAR_035211 commonName VAR_035211 VAR_035211 disease phenotype-associated VAR_035211 phenoCommon Neural tube defects (NTD) [MIM:182940] VAR_035212 commonName VAR_035212 VAR_035213 commonName VAR_035213 VAR_035214 commonName VAR_035214 VAR_035215 commonName VAR_035215 VAR_035216 commonName VAR_035216 VAR_035217 commonName VAR_035217 VAR_035217 disease not phenotype-associated VAR_035218 commonName VAR_035218 VAR_035218 disease not phenotype-associated VAR_035219 commonName VAR_035219 VAR_035219 disease not phenotype-associated VAR_035220 commonName VAR_035220 VAR_035220 disease not phenotype-associated VAR_035221 commonName VAR_035221 VAR_035221 disease not phenotype-associated VAR_035222 commonName VAR_035222 VAR_035222 disease not phenotype-associated VAR_035223 commonName VAR_035223 VAR_035223 disease not phenotype-associated VAR_035224 commonName VAR_035224 VAR_035224 disease not phenotype-associated VAR_035225 commonName VAR_035225 VAR_035225 disease not phenotype-associated VAR_035228 commonName VAR_035228 VAR_035228 disease not phenotype-associated VAR_035229 commonName VAR_035229 VAR_035229 disease not phenotype-associated VAR_035230 commonName VAR_035230 VAR_035230 disease not phenotype-associated VAR_035231 commonName VAR_035231 VAR_035231 disease not phenotype-associated VAR_035232 commonName VAR_035232 VAR_035232 disease not phenotype-associated VAR_035233 commonName VAR_035233 VAR_035233 disease not phenotype-associated VAR_035234 commonName VAR_035234 VAR_035234 disease not phenotype-associated VAR_035235 commonName VAR_035235 VAR_035235 disease not phenotype-associated VAR_035236 commonName VAR_035236 VAR_035239 commonName VAR_035239 VAR_035240 commonName VAR_035240 VAR_035242 commonName VAR_035242 VAR_035243 commonName VAR_035243 VAR_035243 disease not phenotype-associated VAR_035244 commonName VAR_035244 VAR_035244 disease not phenotype-associated VAR_035245 commonName VAR_035245 VAR_035245 disease not phenotype-associated VAR_035246 commonName VAR_035246 VAR_035246 disease not phenotype-associated VAR_035249 commonName VAR_035249 VAR_035249 disease not phenotype-associated VAR_035250 commonName VAR_035250 VAR_035250 disease not phenotype-associated VAR_035251 commonName VAR_035251 VAR_035251 disease not phenotype-associated VAR_035252 commonName VAR_035252 VAR_035252 disease not phenotype-associated VAR_035253 commonName VAR_035253 VAR_035253 disease not phenotype-associated VAR_035254 commonName VAR_035254 VAR_035254 disease not phenotype-associated VAR_035255 commonName VAR_035255 VAR_035255 disease not phenotype-associated VAR_035256 commonName VAR_035256 VAR_035256 disease not phenotype-associated VAR_035257 commonName VAR_035257 VAR_035257 disease not phenotype-associated VAR_035258 commonName VAR_035258 VAR_035258 disease not phenotype-associated VAR_035259 commonName VAR_035259 VAR_035259 disease not phenotype-associated VAR_035260 commonName VAR_035260 VAR_035260 disease not phenotype-associated VAR_035261 commonName VAR_035261 VAR_035261 disease not phenotype-associated VAR_035262 commonName VAR_035262 VAR_035262 disease not phenotype-associated VAR_035263 commonName VAR_035263 VAR_035263 disease not phenotype-associated VAR_035264 commonName VAR_035264 VAR_035264 disease not phenotype-associated VAR_035265 commonName VAR_035265 VAR_035265 disease not phenotype-associated VAR_035266 commonName VAR_035266 VAR_035266 disease not phenotype-associated VAR_035267 commonName VAR_035267 VAR_035267 disease not phenotype-associated VAR_035268 commonName VAR_035268 VAR_035268 disease not phenotype-associated VAR_035277 commonName VAR_035277 VAR_035277 disease not phenotype-associated VAR_035278 commonName VAR_035278 VAR_035278 disease not phenotype-associated VAR_035279 commonName VAR_035279 VAR_035279 disease not phenotype-associated VAR_035280 commonName VAR_035280 VAR_035280 disease not phenotype-associated VAR_035284 commonName VAR_035284 VAR_035284 disease not phenotype-associated VAR_035285 commonName VAR_035285 VAR_035285 disease not phenotype-associated VAR_035286 commonName VAR_035286 VAR_035286 disease not phenotype-associated VAR_035287 commonName VAR_035287 VAR_035287 disease not phenotype-associated VAR_035288 commonName VAR_035288 VAR_035288 disease not phenotype-associated VAR_035289 commonName VAR_035289 VAR_035289 disease not phenotype-associated VAR_035290 commonName VAR_035290 VAR_035290 disease not phenotype-associated VAR_035291 commonName VAR_035291 VAR_035291 disease not phenotype-associated VAR_035292 commonName VAR_035292 VAR_035292 disease not phenotype-associated VAR_035293 commonName VAR_035293 VAR_035293 disease not phenotype-associated VAR_035298 commonName VAR_035298 VAR_035298 disease not phenotype-associated VAR_035299 commonName VAR_035299 VAR_035299 disease not phenotype-associated VAR_035300 commonName VAR_035300 VAR_035300 disease not phenotype-associated VAR_035301 commonName VAR_035301 VAR_035301 disease not phenotype-associated VAR_035302 commonName VAR_035302 VAR_035302 disease not phenotype-associated VAR_035303 commonName VAR_035303 VAR_035303 disease not phenotype-associated VAR_035304 commonName VAR_035304 VAR_035304 disease not phenotype-associated VAR_035305 commonName VAR_035305 VAR_035305 disease not phenotype-associated VAR_035306 commonName VAR_035306 VAR_035306 disease not phenotype-associated VAR_035307 commonName VAR_035307 VAR_035307 disease not phenotype-associated VAR_035308 commonName VAR_035308 VAR_035308 disease not phenotype-associated VAR_035309 commonName VAR_035309 VAR_035309 disease not phenotype-associated VAR_035310 commonName VAR_035310 VAR_035310 disease not phenotype-associated VAR_035311 commonName VAR_035311 VAR_035311 disease not phenotype-associated VAR_035312 commonName VAR_035312 VAR_035312 disease not phenotype-associated VAR_035313 commonName VAR_035313 VAR_035313 disease not phenotype-associated VAR_035314 commonName VAR_035314 VAR_035314 disease not phenotype-associated VAR_035315 commonName VAR_035315 VAR_035315 disease not phenotype-associated VAR_035316 commonName VAR_035316 VAR_035316 disease not phenotype-associated VAR_035322 commonName VAR_035322 VAR_035322 disease not phenotype-associated VAR_035323 commonName VAR_035323 VAR_035323 disease not phenotype-associated VAR_035324 commonName VAR_035324 VAR_035324 disease not phenotype-associated VAR_035325 commonName VAR_035325 VAR_035325 disease not phenotype-associated VAR_035326 commonName VAR_035326 VAR_035326 disease not phenotype-associated VAR_035327 commonName VAR_035327 VAR_035327 disease not phenotype-associated VAR_035328 commonName VAR_035328 VAR_035328 disease not phenotype-associated VAR_035329 commonName VAR_035329 VAR_035329 disease not phenotype-associated VAR_035331 commonName VAR_035331 VAR_035331 disease not phenotype-associated VAR_035332 commonName VAR_035332 VAR_035332 disease not phenotype-associated VAR_035333 commonName VAR_035333 VAR_035333 disease not phenotype-associated VAR_035334 commonName VAR_035334 VAR_035334 disease not phenotype-associated VAR_035335 commonName VAR_035335 VAR_035335 disease not phenotype-associated VAR_035336 commonName VAR_035336 VAR_035336 disease not phenotype-associated VAR_035337 commonName VAR_035337 VAR_035337 disease not phenotype-associated VAR_035338 commonName VAR_035338 VAR_035338 disease not phenotype-associated VAR_035339 commonName VAR_035339 VAR_035339 disease not phenotype-associated VAR_035341 commonName VAR_035341 VAR_035341 disease not phenotype-associated VAR_035342 commonName VAR_035342 VAR_035342 disease not phenotype-associated VAR_035343 commonName VAR_035343 VAR_035343 disease not phenotype-associated VAR_035344 commonName VAR_035344 VAR_035344 disease not phenotype-associated VAR_035345 commonName VAR_035345 VAR_035345 disease not phenotype-associated VAR_035347 commonName VAR_035347 VAR_035347 disease not phenotype-associated VAR_035348 commonName VAR_035348 VAR_035348 disease not phenotype-associated VAR_035349 commonName VAR_035349 VAR_035349 disease not phenotype-associated VAR_035350 commonName VAR_035350 VAR_035350 disease not phenotype-associated VAR_035351 commonName VAR_035351 VAR_035351 disease not phenotype-associated VAR_035352 commonName VAR_035352 VAR_035352 disease not phenotype-associated VAR_035356 commonName VAR_035356 VAR_035356 disease not phenotype-associated VAR_035358 commonName VAR_035358 VAR_035358 disease not phenotype-associated VAR_035359 commonName VAR_035359 VAR_035359 disease not phenotype-associated VAR_035360 commonName VAR_035360 VAR_035360 disease not phenotype-associated VAR_035361 commonName VAR_035361 VAR_035361 disease not phenotype-associated VAR_035362 commonName VAR_035362 VAR_035362 disease not phenotype-associated VAR_035363 commonName VAR_035363 VAR_035363 disease not phenotype-associated VAR_035364 commonName VAR_035364 VAR_035364 disease not phenotype-associated VAR_035365 commonName VAR_035365 VAR_035365 disease not phenotype-associated VAR_035366 commonName VAR_035366 VAR_035366 disease not phenotype-associated VAR_035367 commonName VAR_035367 VAR_035367 disease not phenotype-associated VAR_035368 commonName VAR_035368 VAR_035368 disease not phenotype-associated VAR_035369 commonName VAR_035369 VAR_035369 disease not phenotype-associated VAR_035370 commonName VAR_035370 VAR_035370 disease not phenotype-associated VAR_035371 commonName VAR_035371 VAR_035371 disease not phenotype-associated VAR_035372 commonName VAR_035372 VAR_035372 disease not phenotype-associated VAR_035373 commonName VAR_035373 VAR_035373 disease not phenotype-associated VAR_035375 commonName VAR_035375 VAR_035375 disease not phenotype-associated VAR_035376 commonName VAR_035376 VAR_035376 disease not phenotype-associated VAR_035377 commonName VAR_035377 VAR_035377 disease not phenotype-associated VAR_035378 commonName VAR_035378 VAR_035378 disease not phenotype-associated VAR_035379 commonName VAR_035379 VAR_035379 disease not phenotype-associated VAR_035380 commonName VAR_035380 VAR_035380 disease not phenotype-associated VAR_035381 commonName VAR_035381 VAR_035381 disease not phenotype-associated VAR_035382 commonName VAR_035382 VAR_035382 disease not phenotype-associated VAR_035383 commonName VAR_035383 VAR_035383 disease not phenotype-associated VAR_035384 commonName VAR_035384 VAR_035384 disease not phenotype-associated VAR_035385 commonName VAR_035385 VAR_035385 disease not phenotype-associated VAR_035386 commonName VAR_035386 VAR_035386 disease phenotype-associated VAR_035386 phenoCommon Long QT syndrome type 6 (LQT6) [MIM:613693] VAR_035387 commonName VAR_035387 VAR_035387 disease not phenotype-associated VAR_035389 commonName VAR_035389 VAR_035389 disease not phenotype-associated VAR_035390 commonName VAR_035390 VAR_035390 disease not phenotype-associated VAR_035391 commonName VAR_035391 VAR_035391 disease not phenotype-associated VAR_035392 commonName VAR_035392 VAR_035392 disease not phenotype-associated VAR_035393 commonName VAR_035393 VAR_035393 disease not phenotype-associated VAR_035394 commonName VAR_035394 VAR_035394 disease not phenotype-associated VAR_035395 commonName VAR_035395 VAR_035395 disease not phenotype-associated VAR_035396 commonName VAR_035396 VAR_035396 disease not phenotype-associated VAR_035397 commonName VAR_035397 VAR_035397 disease not phenotype-associated VAR_035398 commonName VAR_035398 VAR_035398 disease not phenotype-associated VAR_035399 commonName VAR_035399 VAR_035399 disease not phenotype-associated VAR_035400 commonName VAR_035400 VAR_035400 disease not phenotype-associated VAR_035401 commonName VAR_035401 VAR_035401 disease not phenotype-associated VAR_035402 commonName VAR_035402 VAR_035402 disease not phenotype-associated VAR_035403 commonName VAR_035403 VAR_035403 disease not phenotype-associated VAR_035405 commonName VAR_035405 VAR_035405 disease not phenotype-associated VAR_035406 commonName VAR_035406 VAR_035406 disease not phenotype-associated VAR_035407 commonName VAR_035407 VAR_035407 disease not phenotype-associated VAR_035408 commonName VAR_035408 VAR_035408 disease not phenotype-associated VAR_035409 commonName VAR_035409 VAR_035409 disease not phenotype-associated VAR_035410 commonName VAR_035410 VAR_035410 disease not phenotype-associated VAR_035411 commonName VAR_035411 VAR_035411 disease not phenotype-associated VAR_035412 commonName VAR_035412 VAR_035412 disease not phenotype-associated VAR_035413 commonName VAR_035413 VAR_035413 disease not phenotype-associated VAR_035414 commonName VAR_035414 VAR_035414 disease not phenotype-associated VAR_035415 commonName VAR_035415 VAR_035415 disease not phenotype-associated VAR_035416 commonName VAR_035416 VAR_035417 commonName VAR_035417 VAR_035417 disease not phenotype-associated VAR_035418 commonName VAR_035418 VAR_035418 disease not phenotype-associated VAR_035419 commonName VAR_035419 VAR_035419 disease not phenotype-associated VAR_035420 commonName VAR_035420 VAR_035420 disease not phenotype-associated VAR_035421 commonName VAR_035421 VAR_035421 disease not phenotype-associated VAR_035431 commonName VAR_035431 VAR_035431 disease not phenotype-associated VAR_035432 commonName VAR_035432 VAR_035432 disease not phenotype-associated VAR_035433 commonName VAR_035433 VAR_035433 disease phenotype-associated VAR_035433 phenoCommon Renal tubular dysgenesis (RTD) [MIM:267430] VAR_035434 commonName VAR_035434 VAR_035434 disease not phenotype-associated VAR_035435 commonName VAR_035435 VAR_035435 disease not phenotype-associated VAR_035436 commonName VAR_035436 VAR_035436 disease not phenotype-associated VAR_035437 commonName VAR_035437 VAR_035437 disease not phenotype-associated VAR_035438 commonName VAR_035438 VAR_035438 disease phenotype-associated VAR_035438 phenoCommon Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200] VAR_035439 commonName VAR_035439 VAR_035439 disease phenotype-associated VAR_035439 phenoCommon Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200] VAR_035441 commonName VAR_035441 VAR_035441 disease not phenotype-associated VAR_035442 commonName VAR_035442 VAR_035442 disease not phenotype-associated VAR_035443 commonName VAR_035443 VAR_035443 disease not phenotype-associated VAR_035444 comment A breast cancer sample VAR_035444 commonName VAR_035444 VAR_035445 comment A breast cancer sample VAR_035445 commonName VAR_035445 VAR_035446 comment A colorectal cancer sample VAR_035446 commonName VAR_035446 VAR_035447 comment A colorectal cancer sample VAR_035447 commonName VAR_035447 VAR_035450 comment A breast cancer sample VAR_035450 commonName VAR_035450 VAR_035454 comment A breast cancer sample VAR_035454 commonName VAR_035454 VAR_035455 comment A breast cancer sample VAR_035455 commonName VAR_035455 VAR_035458 comment A colorectal cancer sample VAR_035458 commonName VAR_035458 VAR_035459 comment A breast cancer sample VAR_035459 commonName VAR_035459 VAR_035460 comment A colorectal cancer sample VAR_035460 commonName VAR_035460 VAR_035461 comment A colorectal cancer sample VAR_035461 commonName VAR_035461 VAR_035462 comment A breast cancer sample VAR_035462 commonName VAR_035462 VAR_035463 comment A breast cancer sample VAR_035463 commonName VAR_035463 VAR_035464 comment A breast cancer sample VAR_035464 commonName VAR_035464 VAR_035465 comment A breast cancer sample VAR_035465 commonName VAR_035465 VAR_035466 comment A colorectal cancer sample VAR_035466 commonName VAR_035466 VAR_035468 comment A colorectal cancer sample VAR_035468 commonName VAR_035468 VAR_035469 comment A colorectal cancer sample VAR_035469 commonName VAR_035469 VAR_035470 comment A colorectal cancer sample VAR_035470 commonName VAR_035470 VAR_035471 comment A colorectal cancer sample VAR_035471 commonName VAR_035471 VAR_035472 comment A colorectal cancer sample VAR_035472 commonName VAR_035472 VAR_035474 comment A breast cancer sample VAR_035474 commonName VAR_035474 VAR_035475 comment A breast cancer sample VAR_035475 commonName VAR_035475 VAR_035476 comment A breast cancer sample VAR_035476 commonName VAR_035476 VAR_035477 comment A breast cancer sample VAR_035477 commonName VAR_035477 VAR_035478 comment A colorectal cancer sample VAR_035478 commonName VAR_035478 VAR_035479 comment A breast cancer sample VAR_035479 commonName VAR_035479 VAR_035480 comment A breast cancer sample VAR_035480 commonName VAR_035480 VAR_035481 comment A breast cancer sample VAR_035481 commonName VAR_035481 VAR_035482 comment A breast cancer sample VAR_035482 commonName VAR_035482 VAR_035483 comment A breast cancer sample VAR_035483 commonName VAR_035483 VAR_035484 comment A breast cancer sample VAR_035484 commonName VAR_035484 VAR_035485 comment A breast cancer sample VAR_035485 commonName VAR_035485 VAR_035486 comment A colorectal cancer sample VAR_035486 commonName VAR_035486 VAR_035487 comment A colorectal cancer sample VAR_035487 commonName VAR_035487 VAR_035488 comment A breast cancer sample VAR_035488 commonName VAR_035488 VAR_035489 comment A colorectal cancer sample VAR_035489 commonName VAR_035489 VAR_035490 comment A breast cancer sample VAR_035490 commonName VAR_035490 VAR_035491 comment A breast cancer sample VAR_035491 commonName VAR_035491 VAR_035492 comment A breast cancer sample VAR_035492 commonName VAR_035492 VAR_035493 comment A breast cancer sample VAR_035493 commonName VAR_035493 VAR_035494 comment A breast cancer sample VAR_035494 commonName VAR_035494 VAR_035495 comment A breast cancer sample VAR_035495 commonName VAR_035495 VAR_035496 comment A colorectal cancer sample VAR_035496 commonName VAR_035496 VAR_035497 comment A colorectal cancer sample VAR_035497 commonName VAR_035497 VAR_035498 comment A colorectal cancer sample VAR_035498 commonName VAR_035498 VAR_035499 comment A colorectal cancer sample VAR_035499 commonName VAR_035499 VAR_035500 comment A breast cancer sample VAR_035500 commonName VAR_035500 VAR_035502 comment A breast cancer sample VAR_035502 commonName VAR_035502 VAR_035503 comment A breast cancer sample VAR_035503 commonName VAR_035503 VAR_035504 comment A breast cancer sample VAR_035504 commonName VAR_035504 VAR_035505 comment A colorectal cancer sample VAR_035505 commonName VAR_035505 VAR_035506 comment A colorectal cancer sample VAR_035506 commonName VAR_035506 VAR_035507 comment A colorectal cancer sample VAR_035507 commonName VAR_035507 VAR_035508 comment A colorectal cancer sample VAR_035508 commonName VAR_035508 VAR_035509 comment A breast cancer sample VAR_035509 commonName VAR_035509 VAR_035510 comment A breast cancer sample VAR_035510 commonName VAR_035510 VAR_035511 comment A colorectal cancer sample VAR_035511 commonName VAR_035511 VAR_035512 comment A colorectal cancer sample VAR_035512 commonName VAR_035512 VAR_035513 comment A colorectal cancer sample VAR_035513 commonName VAR_035513 VAR_035514 comment A breast cancer sample VAR_035514 commonName VAR_035514 VAR_035515 comment A breast cancer sample VAR_035515 commonName VAR_035515 VAR_035516 comment A breast cancer sample VAR_035516 commonName VAR_035516 VAR_035517 comment A breast cancer sample VAR_035517 commonName VAR_035517 VAR_035519 comment A colorectal cancer sample VAR_035519 commonName VAR_035519 VAR_035520 comment A colorectal cancer sample VAR_035520 commonName VAR_035520 VAR_035521 comment A colorectal cancer sample VAR_035521 commonName VAR_035521 VAR_035522 comment A colorectal cancer sample VAR_035522 commonName VAR_035522 VAR_035523 comment A colorectal cancer sample VAR_035523 commonName VAR_035523 VAR_035524 comment A breast cancer sample VAR_035524 commonName VAR_035524 VAR_035525 comment A breast cancer sample VAR_035525 commonName VAR_035525 VAR_035526 comment A breast cancer sample VAR_035526 commonName VAR_035526 VAR_035527 comment A colorectal cancer sample VAR_035527 commonName VAR_035527 VAR_035528 comment A breast cancer sample VAR_035528 commonName VAR_035528 VAR_035529 comment A breast cancer sample VAR_035529 commonName VAR_035529 VAR_035530 comment A colorectal cancer sample VAR_035530 commonName VAR_035530 VAR_035531 comment A colorectal cancer sample VAR_035531 commonName VAR_035531 VAR_035532 comment A colorectal cancer sample VAR_035532 commonName VAR_035532 VAR_035533 comment A colorectal cancer sample VAR_035533 commonName VAR_035533 VAR_035534 comment A breast cancer sample VAR_035534 commonName VAR_035534 VAR_035535 comment A colorectal cancer sample VAR_035535 commonName VAR_035535 VAR_035536 comment A colorectal cancer sample VAR_035536 commonName VAR_035536 VAR_035537 comment A breast cancer sample VAR_035537 commonName VAR_035537 VAR_035538 comment A breast cancer sample VAR_035538 commonName VAR_035538 VAR_035539 comment A colorectal cancer sample VAR_035539 commonName VAR_035539 VAR_035540 comment A breast cancer sample VAR_035540 commonName VAR_035540 VAR_035541 comment A colorectal cancer sample VAR_035541 commonName VAR_035541 VAR_035542 comment A breast cancer sample VAR_035542 commonName VAR_035542 VAR_035543 comment A colorectal cancer sample VAR_035543 commonName VAR_035543 VAR_035544 comment A colorectal cancer sample VAR_035544 commonName VAR_035544 VAR_035545 comment A breast cancer sample VAR_035545 commonName VAR_035545 VAR_035546 comment A breast cancer sample VAR_035546 commonName VAR_035546 VAR_035547 comment A breast cancer sample VAR_035547 commonName VAR_035547 VAR_035548 comment A breast cancer sample VAR_035548 commonName VAR_035548 VAR_035549 comment A breast cancer sample VAR_035549 commonName VAR_035549 VAR_035550 comment A breast cancer sample VAR_035550 commonName VAR_035550 VAR_035551 comment A breast cancer sample VAR_035551 commonName VAR_035551 VAR_035552 comment A colorectal cancer sample VAR_035552 commonName VAR_035552 VAR_035553 comment A breast cancer sample VAR_035553 commonName VAR_035553 VAR_035554 comment A colorectal cancer sample VAR_035554 commonName VAR_035554 VAR_035555 comment A colorectal cancer sample VAR_035555 commonName VAR_035555 VAR_035556 comment A colorectal cancer sample VAR_035556 commonName VAR_035556 VAR_035557 comment A breast cancer sample VAR_035557 commonName VAR_035557 VAR_035558 comment A breast cancer sample VAR_035558 commonName VAR_035558 VAR_035559 comment A breast cancer sample VAR_035559 commonName VAR_035559 VAR_035560 comment A colorectal cancer sample VAR_035560 commonName VAR_035560 VAR_035561 comment A colorectal cancer sample VAR_035561 commonName VAR_035561 VAR_035562 comment A colorectal cancer sample VAR_035562 commonName VAR_035562 VAR_035563 comment A colorectal cancer sample VAR_035563 commonName VAR_035563 VAR_035564 comment A breast cancer sample VAR_035564 commonName VAR_035564 VAR_035565 comment A breast cancer sample VAR_035565 commonName VAR_035565 VAR_035566 comment A breast cancer sample VAR_035566 commonName VAR_035566 VAR_035567 comment A breast cancer sample VAR_035567 commonName VAR_035567 VAR_035568 comment A breast cancer sample VAR_035568 commonName VAR_035568 VAR_035569 comment A colorectal cancer sample VAR_035569 commonName VAR_035569 VAR_035570 comment A breast cancer sample VAR_035570 commonName VAR_035570 VAR_035571 comment A colorectal cancer sample VAR_035571 commonName VAR_035571 VAR_035572 comment A colorectal cancer sample VAR_035572 commonName VAR_035572 VAR_035573 comment A colorectal cancer sample VAR_035573 commonName VAR_035573 VAR_035574 comment A breast cancer sample VAR_035574 commonName VAR_035574 VAR_035576 comment A breast cancer sample VAR_035576 commonName VAR_035576 VAR_035577 comment A breast cancer sample VAR_035577 commonName VAR_035577 VAR_035578 comment A breast cancer sample VAR_035578 commonName VAR_035578 VAR_035579 comment A breast cancer sample VAR_035579 commonName VAR_035579 VAR_035580 comment A breast cancer sample VAR_035580 commonName VAR_035580 VAR_035581 comment A colorectal cancer sample VAR_035581 commonName VAR_035581 VAR_035582 comment A colorectal cancer sample VAR_035582 commonName VAR_035582 VAR_035583 comment A colorectal cancer sample VAR_035583 commonName VAR_035583 VAR_035584 comment A colorectal cancer sample VAR_035584 commonName VAR_035584 VAR_035585 comment A breast cancer sample VAR_035585 commonName VAR_035585 VAR_035586 comment A colorectal cancer sample VAR_035586 commonName VAR_035586 VAR_035587 comment A breast cancer sample VAR_035587 commonName VAR_035587 VAR_035588 comment A colorectal cancer sample VAR_035588 commonName VAR_035588 VAR_035589 comment A breast cancer sample VAR_035589 commonName VAR_035589 VAR_035590 comment A breast cancer sample VAR_035590 commonName VAR_035590 VAR_035591 comment A colorectal cancer sample VAR_035591 commonName VAR_035591 VAR_035592 comment A colorectal cancer sample VAR_035592 commonName VAR_035592 VAR_035593 comment A breast cancer sample VAR_035593 commonName VAR_035593 VAR_035594 comment A breast cancer sample VAR_035594 commonName VAR_035594 VAR_035595 comment A breast cancer sample VAR_035595 commonName VAR_035595 VAR_035596 comment A breast cancer sample VAR_035596 commonName VAR_035596 VAR_035597 comment A breast cancer sample VAR_035597 commonName VAR_035597 VAR_035598 comment A breast cancer sample VAR_035598 commonName VAR_035598 VAR_035599 comment A colorectal cancer sample VAR_035599 commonName VAR_035599 VAR_035600 comment A breast cancer sample VAR_035600 commonName VAR_035600 VAR_035601 comment A breast cancer sample VAR_035601 commonName VAR_035601 VAR_035602 comment A colorectal cancer sample VAR_035602 commonName VAR_035602 VAR_035603 comment A colorectal cancer sample VAR_035603 commonName VAR_035603 VAR_035604 comment A colorectal cancer sample VAR_035604 commonName VAR_035604 VAR_035605 comment A breast cancer sample VAR_035605 commonName VAR_035605 VAR_035610 comment A breast cancer sample VAR_035610 commonName VAR_035610 VAR_035611 comment A breast cancer sample VAR_035611 commonName VAR_035611 VAR_035612 comment A colorectal cancer sample VAR_035612 commonName VAR_035612 VAR_035613 comment A colorectal cancer sample VAR_035613 commonName VAR_035613 VAR_035614 comment A breast cancer sample VAR_035614 commonName VAR_035614 VAR_035615 comment A breast cancer sample VAR_035615 commonName VAR_035615 VAR_035616 comment A colorectal cancer sample VAR_035616 commonName VAR_035616 VAR_035618 comment A breast cancer sample VAR_035618 commonName VAR_035618 VAR_035619 comment A breast cancer sample VAR_035619 commonName VAR_035619 VAR_035620 comment A colorectal cancer sample VAR_035620 commonName VAR_035620 VAR_035621 comment A breast cancer sample VAR_035621 commonName VAR_035621 VAR_035622 comment A breast cancer sample VAR_035622 commonName VAR_035622 VAR_035623 comment Breast cancer samples VAR_035623 commonName VAR_035623 VAR_035624 comment A breast cancer sample VAR_035624 commonName VAR_035624 VAR_035625 comment A breast cancer sample VAR_035625 commonName VAR_035625 VAR_035626 comment Breast cancer samples VAR_035626 commonName VAR_035626 VAR_035627 comment A breast cancer sample VAR_035627 commonName VAR_035627 VAR_035628 comment A colorectal cancer sample VAR_035628 commonName VAR_035628 VAR_035629 comment A breast cancer sample VAR_035629 commonName VAR_035629 VAR_035630 comment A colorectal cancer sample VAR_035630 commonName VAR_035630 VAR_035631 comment A colorectal cancer sample VAR_035631 commonName VAR_035631 VAR_035632 comment A breast cancer sample VAR_035632 commonName VAR_035632 VAR_035633 comment A breast cancer sample VAR_035633 commonName VAR_035633 VAR_035634 comment A breast cancer sample VAR_035634 commonName VAR_035634 VAR_035635 comment A breast cancer sample VAR_035635 commonName VAR_035635 VAR_035636 comment A breast cancer sample VAR_035636 commonName VAR_035636 VAR_035639 comment A colorectal cancer sample VAR_035639 commonName VAR_035639 VAR_035640 comment A colorectal cancer sample VAR_035640 commonName VAR_035640 VAR_035641 comment Breast cancer samples VAR_035641 commonName VAR_035641 VAR_035642 comment A breast cancer sample VAR_035642 commonName VAR_035642 VAR_035643 comment A breast cancer sample VAR_035643 commonName VAR_035643 VAR_035644 comment A colorectal cancer sample VAR_035644 commonName VAR_035644 VAR_035645 comment A colorectal cancer sample VAR_035645 commonName VAR_035645 VAR_035646 comment A colorectal cancer sample VAR_035646 commonName VAR_035646 VAR_035647 comment A colorectal cancer sample VAR_035647 commonName VAR_035647 VAR_035648 comment A colorectal cancer sample VAR_035648 commonName VAR_035648 VAR_035649 comment A colorectal cancer sample VAR_035649 commonName VAR_035649 VAR_035650 comment A colorectal cancer sample VAR_035650 commonName VAR_035650 VAR_035651 comment A colorectal cancer sample VAR_035651 commonName VAR_035651 VAR_035652 comment A colorectal cancer sample VAR_035652 commonName VAR_035652 VAR_035653 comment A breast cancer sample VAR_035653 commonName VAR_035653 VAR_035654 comment A breast cancer sample VAR_035654 commonName VAR_035654 VAR_035655 comment A colorectal cancer sample VAR_035655 commonName VAR_035655 VAR_035656 comment A breast cancer sample VAR_035656 commonName VAR_035656 VAR_035657 comment A colorectal cancer sample VAR_035657 commonName VAR_035657 VAR_035658 comment A colorectal cancer sample VAR_035658 commonName VAR_035658 VAR_035659 comment A breast cancer sample VAR_035659 commonName VAR_035659 VAR_035660 comment A breast cancer sample VAR_035660 commonName VAR_035660 VAR_035661 comment A breast cancer sample VAR_035661 commonName VAR_035661 VAR_035662 comment A breast cancer sample VAR_035662 commonName VAR_035662 VAR_035663 comment A breast cancer sample VAR_035663 commonName VAR_035663 VAR_035664 comment A colorectal cancer sample VAR_035664 commonName VAR_035664 VAR_035665 comment A breast cancer sample VAR_035665 commonName VAR_035665 VAR_035666 comment A colorectal cancer sample VAR_035666 commonName VAR_035666 VAR_035667 comment A breast cancer sample VAR_035667 commonName VAR_035667 VAR_035668 comment A colorectal cancer sample VAR_035668 commonName VAR_035668 VAR_035669 comment A breast cancer sample VAR_035669 commonName VAR_035669 VAR_035670 comment A colorectal cancer sample VAR_035670 commonName VAR_035670 VAR_035671 comment A colorectal cancer sample VAR_035671 commonName VAR_035671 VAR_035673 comment A colorectal cancer sample VAR_035673 commonName VAR_035673 VAR_035674 comment A breast cancer sample VAR_035674 commonName VAR_035674 VAR_035675 comment A colorectal cancer sample VAR_035675 commonName VAR_035675 VAR_035677 comment A colorectal cancer sample VAR_035677 commonName VAR_035677 VAR_035678 comment A breast cancer sample VAR_035678 commonName VAR_035678 VAR_035679 comment A breast cancer sample VAR_035679 commonName VAR_035679 VAR_035680 comment A breast cancer sample VAR_035680 commonName VAR_035680 VAR_035681 comment A colorectal cancer sample VAR_035681 commonName VAR_035681 VAR_035682 comment A colorectal cancer sample VAR_035682 commonName VAR_035682 VAR_035683 comment A colorectal cancer sample VAR_035683 commonName VAR_035683 VAR_035684 comment A breast cancer sample VAR_035684 commonName VAR_035684 VAR_035685 comment A breast cancer sample VAR_035685 commonName VAR_035685 VAR_035686 comment A breast cancer sample VAR_035686 commonName VAR_035686 VAR_035687 comment A breast cancer sample VAR_035687 commonName VAR_035687 VAR_035688 comment A colorectal cancer sample VAR_035688 commonName VAR_035688 VAR_035689 comment A colorectal cancer sample VAR_035689 commonName VAR_035689 VAR_035690 comment A colorectal cancer sample VAR_035690 commonName VAR_035690 VAR_035691 comment A breast cancer sample VAR_035691 commonName VAR_035691 VAR_035694 comment A breast cancer sample VAR_035694 commonName VAR_035694 VAR_035695 comment A colorectal cancer sample VAR_035695 commonName VAR_035695 VAR_035696 comment A breast cancer sample VAR_035696 commonName VAR_035696 VAR_035697 comment A colorectal cancer sample VAR_035697 commonName VAR_035697 VAR_035698 comment A breast cancer sample VAR_035698 commonName VAR_035698 VAR_035699 comment A breast cancer sample VAR_035699 commonName VAR_035699 VAR_035700 comment A breast cancer sample VAR_035700 commonName VAR_035700 VAR_035701 comment A colorectal cancer sample VAR_035701 commonName VAR_035701 VAR_035702 comment A breast cancer sample VAR_035702 commonName VAR_035702 VAR_035703 comment A breast cancer sample VAR_035703 commonName VAR_035703 VAR_035704 comment A breast cancer sample VAR_035704 commonName VAR_035704 VAR_035705 comment A breast cancer sample VAR_035705 commonName VAR_035705 VAR_035706 comment A breast cancer sample VAR_035706 commonName VAR_035706 VAR_035707 comment A colorectal cancer sample VAR_035707 commonName VAR_035707 VAR_035708 comment A colorectal cancer sample VAR_035708 commonName VAR_035708 VAR_035709 comment A breast cancer sample VAR_035709 commonName VAR_035709 VAR_035710 comment A breast cancer sample VAR_035710 commonName VAR_035710 VAR_035711 commonName VAR_035711 VAR_035711 disease phenotype-associated VAR_035711 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_035712 comment A colorectal cancer sample VAR_035712 commonName VAR_035712 VAR_035713 comment A breast cancer sample VAR_035713 commonName VAR_035713 VAR_035714 comment Breast cancer samples VAR_035714 commonName VAR_035714 VAR_035715 comment A breast cancer sample VAR_035715 commonName VAR_035715 VAR_035716 comment A breast cancer sample VAR_035716 commonName VAR_035716 VAR_035717 comment A breast cancer sample VAR_035717 commonName VAR_035717 VAR_035718 comment A colorectal cancer sample VAR_035718 commonName VAR_035718 VAR_035719 comment A colorectal cancer sample VAR_035719 commonName VAR_035719 VAR_035720 comment A breast cancer sample VAR_035720 commonName VAR_035720 VAR_035721 comment A colorectal cancer sample VAR_035721 commonName VAR_035721 VAR_035722 comment A colorectal cancer sample VAR_035722 commonName VAR_035722 VAR_035724 comment A colorectal cancer sample VAR_035724 commonName VAR_035724 VAR_035725 comment A colorectal cancer sample VAR_035725 commonName VAR_035725 VAR_035726 comment A colorectal cancer sample VAR_035726 commonName VAR_035726 VAR_035727 comment A colorectal cancer sample VAR_035727 commonName VAR_035727 VAR_035728 comment A breast cancer sample VAR_035728 commonName VAR_035728 VAR_035729 comment A breast cancer sample VAR_035729 commonName VAR_035729 VAR_035731 comment A colorectal cancer sample VAR_035731 commonName VAR_035731 VAR_035732 comment A breast cancer sample VAR_035732 commonName VAR_035732 VAR_035733 comment A breast cancer sample VAR_035733 commonName VAR_035733 VAR_035735 comment A breast cancer sample VAR_035735 commonName VAR_035735 VAR_035736 comment A breast cancer sample VAR_035736 commonName VAR_035736 VAR_035737 comment A colorectal cancer sample VAR_035737 commonName VAR_035737 VAR_035738 comment A colorectal cancer sample VAR_035738 commonName VAR_035738 VAR_035739 comment A colorectal cancer sample VAR_035739 commonName VAR_035739 VAR_035740 comment A breast cancer sample VAR_035740 commonName VAR_035740 VAR_035741 comment A breast cancer sample VAR_035741 commonName VAR_035741 VAR_035742 comment A breast cancer sample VAR_035742 commonName VAR_035742 VAR_035743 comment A breast cancer sample VAR_035743 commonName VAR_035743 VAR_035744 comment A breast cancer sample VAR_035744 commonName VAR_035744 VAR_035745 comment A breast cancer sample VAR_035745 commonName VAR_035745 VAR_035746 comment A breast cancer sample VAR_035746 commonName VAR_035746 VAR_035748 comment A colorectal cancer sample VAR_035748 commonName VAR_035748 VAR_035749 comment A breast cancer sample VAR_035749 commonName VAR_035749 VAR_035750 comment A breast cancer sample VAR_035750 commonName VAR_035750 VAR_035752 comment A colorectal cancer sample VAR_035752 commonName VAR_035752 VAR_035753 comment A colorectal cancer sample VAR_035753 commonName VAR_035753 VAR_035754 comment A colorectal cancer sample VAR_035754 commonName VAR_035754 VAR_035755 comment A colorectal cancer sample VAR_035755 commonName VAR_035755 VAR_035756 comment A breast cancer sample VAR_035756 commonName VAR_035756 VAR_035757 comment A breast cancer sample VAR_035757 commonName VAR_035757 VAR_035758 comment A breast cancer sample VAR_035758 commonName VAR_035758 VAR_035759 comment A breast cancer sample VAR_035759 commonName VAR_035759 VAR_035760 comment A colorectal cancer sample VAR_035760 commonName VAR_035760 VAR_035761 comment A colorectal cancer sample VAR_035761 commonName VAR_035761 VAR_035762 comment A colorectal cancer sample VAR_035762 commonName VAR_035762 VAR_035763 comment A colorectal cancer sample VAR_035763 commonName VAR_035763 VAR_035764 comment A breast cancer sample VAR_035764 commonName VAR_035764 VAR_035765 comment A breast cancer sample VAR_035765 commonName VAR_035765 VAR_035766 comment A colorectal cancer sample VAR_035766 commonName VAR_035766 VAR_035767 comment A colorectal cancer sample VAR_035767 commonName VAR_035767 VAR_035768 comment A breast cancer sample VAR_035768 commonName VAR_035768 VAR_035769 comment A breast cancer sample VAR_035769 commonName VAR_035769 VAR_035770 comment A breast cancer sample VAR_035770 commonName VAR_035770 VAR_035771 comment A colorectal cancer sample VAR_035771 commonName VAR_035771 VAR_035772 comment A colorectal cancer sample VAR_035772 commonName VAR_035772 VAR_035773 comment A colorectal cancer sample VAR_035773 commonName VAR_035773 VAR_035774 comment A colorectal cancer sample VAR_035774 commonName VAR_035774 VAR_035775 comment A colorectal cancer sample VAR_035775 commonName VAR_035775 VAR_035776 comment A colorectal cancer sample VAR_035776 commonName VAR_035776 VAR_035780 comment A colorectal cancer sample VAR_035780 commonName VAR_035780 VAR_035781 comment A breast cancer sample VAR_035781 commonName VAR_035781 VAR_035782 comment A breast cancer sample VAR_035782 commonName VAR_035782 VAR_035783 comment A breast cancer sample VAR_035783 commonName VAR_035783 VAR_035784 comment A colorectal cancer sample VAR_035784 commonName VAR_035784 VAR_035787 comment A colorectal cancer sample VAR_035787 commonName VAR_035787 VAR_035790 comment A breast cancer sample VAR_035790 commonName VAR_035790 VAR_035791 comment A colorectal cancer sample VAR_035791 commonName VAR_035791 VAR_035792 comment A colorectal cancer sample VAR_035792 commonName VAR_035792 VAR_035793 comment A breast cancer sample VAR_035793 commonName VAR_035793 VAR_035794 comment A colorectal cancer sample VAR_035794 commonName VAR_035794 VAR_035798 comment A breast cancer sample VAR_035798 commonName VAR_035798 VAR_035799 comment A colorectal cancer sample VAR_035799 commonName VAR_035799 VAR_035800 commonName VAR_035800 VAR_035802 comment A breast cancer sample VAR_035802 commonName VAR_035802 VAR_035804 comment A breast cancer sample VAR_035804 commonName VAR_035804 VAR_035805 comment A breast cancer sample VAR_035805 commonName VAR_035805 VAR_035806 comment A colorectal cancer sample VAR_035806 commonName VAR_035806 VAR_035807 comment A colorectal cancer sample VAR_035807 commonName VAR_035807 VAR_035809 comment A colorectal cancer sample VAR_035809 commonName VAR_035809 VAR_035810 comment A colorectal cancer sample VAR_035810 commonName VAR_035810 VAR_035811 comment A colorectal cancer sample VAR_035811 commonName VAR_035811 VAR_035812 comment A colorectal cancer sample VAR_035812 commonName VAR_035812 VAR_035813 comment A breast cancer sample VAR_035813 commonName VAR_035813 VAR_035814 comment A breast cancer sample VAR_035814 commonName VAR_035814 VAR_035815 comment A colorectal cancer sample VAR_035815 commonName VAR_035815 VAR_035816 comment A breast cancer sample VAR_035816 commonName VAR_035816 VAR_035817 comment A colorectal cancer sample VAR_035817 commonName VAR_035817 VAR_035818 comment A breast cancer sample VAR_035818 commonName VAR_035818 VAR_035819 comment A breast cancer sample VAR_035819 commonName VAR_035819 VAR_035820 comment A colorectal cancer sample VAR_035820 commonName VAR_035820 VAR_035821 comment A colorectal cancer sample VAR_035821 commonName VAR_035821 VAR_035822 comment A colorectal cancer sample VAR_035822 commonName VAR_035822 VAR_035823 comment A breast cancer sample VAR_035823 commonName VAR_035823 VAR_035824 comment A breast cancer sample VAR_035824 commonName VAR_035824 VAR_035825 comment A colorectal cancer sample VAR_035825 commonName VAR_035825 VAR_035826 comment A breast cancer sample VAR_035826 commonName VAR_035826 VAR_035827 comment A breast cancer sample VAR_035827 commonName VAR_035827 VAR_035828 comment A colorectal cancer sample VAR_035828 commonName VAR_035828 VAR_035829 comment A breast cancer sample VAR_035829 commonName VAR_035829 VAR_035830 comment A colorectal cancer sample VAR_035830 commonName VAR_035830 VAR_035831 comment A breast cancer sample VAR_035831 commonName VAR_035831 VAR_035832 comment A breast cancer sample VAR_035832 commonName VAR_035832 VAR_035833 comment A breast cancer sample VAR_035833 commonName VAR_035833 VAR_035834 comment A colorectal cancer sample VAR_035834 commonName VAR_035834 VAR_035835 comment A colorectal cancer sample VAR_035835 commonName VAR_035835 VAR_035838 comment A breast cancer sample VAR_035838 commonName VAR_035838 VAR_035839 comment A breast cancer sample VAR_035839 commonName VAR_035839 VAR_035840 comment A breast cancer sample VAR_035840 commonName VAR_035840 VAR_035841 comment A breast cancer sample VAR_035841 commonName VAR_035841 VAR_035842 comment A breast cancer sample VAR_035842 commonName VAR_035842 VAR_035843 comment A breast cancer sample VAR_035843 commonName VAR_035843 VAR_035845 comment A breast cancer sample VAR_035845 commonName VAR_035845 VAR_035847 comment A breast cancer sample VAR_035847 commonName VAR_035847 VAR_035848 comment A breast cancer sample VAR_035848 commonName VAR_035848 VAR_035849 comment A breast cancer sample VAR_035849 commonName VAR_035849 VAR_035850 comment A breast cancer sample VAR_035850 commonName VAR_035850 VAR_035851 comment A breast cancer sample VAR_035851 commonName VAR_035851 VAR_035852 comment A breast cancer sample VAR_035852 commonName VAR_035852 VAR_035853 comment A colorectal cancer sample VAR_035853 commonName VAR_035853 VAR_035854 comment A breast cancer sample VAR_035854 commonName VAR_035854 VAR_035855 comment A breast cancer sample VAR_035855 commonName VAR_035855 VAR_035856 comment A breast cancer sample VAR_035856 commonName VAR_035856 VAR_035857 comment A breast cancer sample VAR_035857 commonName VAR_035857 VAR_035858 comment A breast cancer sample VAR_035858 commonName VAR_035858 VAR_035860 comment A breast cancer sample VAR_035860 commonName VAR_035860 VAR_035861 comment A breast cancer sample VAR_035861 commonName VAR_035861 VAR_035862 comment A colorectal cancer sample VAR_035862 commonName VAR_035862 VAR_035863 comment A colorectal cancer sample VAR_035863 commonName VAR_035863 VAR_035865 comment A colorectal cancer sample VAR_035865 commonName VAR_035865 VAR_035866 comment A colorectal cancer sample VAR_035866 commonName VAR_035866 VAR_035867 comment A colorectal cancer sample VAR_035867 commonName VAR_035867 VAR_035869 comment A breast cancer sample VAR_035869 commonName VAR_035869 VAR_035870 comment A breast cancer sample VAR_035870 commonName VAR_035870 VAR_035871 comment A colorectal cancer sample VAR_035871 commonName VAR_035871 VAR_035872 comment A breast cancer sample VAR_035872 commonName VAR_035872 VAR_035873 comment A breast cancer sample VAR_035873 commonName VAR_035873 VAR_035874 comment A colorectal cancer sample VAR_035874 commonName VAR_035874 VAR_035875 comment A breast cancer sample VAR_035875 commonName VAR_035875 VAR_035876 comment A breast cancer sample VAR_035876 commonName VAR_035876 VAR_035877 comment A colorectal cancer sample VAR_035877 commonName VAR_035877 VAR_035879 comment A colorectal cancer sample VAR_035879 commonName VAR_035879 VAR_035880 comment A colorectal cancer sample VAR_035880 commonName VAR_035880 VAR_035881 comment A colorectal cancer sample VAR_035881 commonName VAR_035881 VAR_035882 comment A breast cancer sample VAR_035882 commonName VAR_035882 VAR_035883 comment A breast cancer sample VAR_035883 commonName VAR_035883 VAR_035884 comment A breast cancer sample VAR_035884 commonName VAR_035884 VAR_035885 comment A breast cancer sample VAR_035885 commonName VAR_035885 VAR_035886 comment A breast cancer sample VAR_035886 commonName VAR_035886 VAR_035887 comment A breast cancer sample VAR_035887 commonName VAR_035887 VAR_035888 comment A breast cancer sample VAR_035888 commonName VAR_035888 VAR_035889 comment A colorectal cancer sample VAR_035889 commonName VAR_035889 VAR_035890 comment A breast cancer sample VAR_035890 commonName VAR_035890 VAR_035891 comment A breast cancer sample VAR_035891 commonName VAR_035891 VAR_035892 comment A breast cancer sample VAR_035892 commonName VAR_035892 VAR_035893 comment A breast cancer sample VAR_035893 commonName VAR_035893 VAR_035894 comment A breast cancer sample VAR_035894 commonName VAR_035894 VAR_035895 comment A breast cancer sample VAR_035895 commonName VAR_035895 VAR_035896 comment A breast cancer sample VAR_035896 commonName VAR_035896 VAR_035897 comment A colorectal cancer sample VAR_035897 commonName VAR_035897 VAR_035898 comment A colorectal cancer sample VAR_035898 commonName VAR_035898 VAR_035899 comment A breast cancer sample VAR_035899 commonName VAR_035899 VAR_035900 comment A breast cancer sample VAR_035900 commonName VAR_035900 VAR_035901 comment A colorectal cancer sample VAR_035901 commonName VAR_035901 VAR_035902 comment A breast cancer sample VAR_035902 commonName VAR_035902 VAR_035903 comment A colorectal cancer sample VAR_035903 commonName VAR_035903 VAR_035904 comment A colorectal cancer sample VAR_035904 commonName VAR_035904 VAR_035905 comment A breast cancer sample VAR_035905 commonName VAR_035905 VAR_035906 comment A colorectal cancer sample VAR_035906 commonName VAR_035906 VAR_035907 comment A breast cancer sample VAR_035907 commonName VAR_035907 VAR_035908 comment A breast cancer sample VAR_035908 commonName VAR_035908 VAR_035909 comment A breast cancer sample VAR_035909 commonName VAR_035909 VAR_035910 comment A breast cancer sample VAR_035910 commonName VAR_035910 VAR_035912 comment A colorectal cancer sample VAR_035912 commonName VAR_035912 VAR_035913 comment A breast cancer sample VAR_035913 commonName VAR_035913 VAR_035914 comment A colorectal cancer sample VAR_035914 commonName VAR_035914 VAR_035915 comment A colorectal cancer sample VAR_035915 commonName VAR_035915 VAR_035916 comment A colorectal cancer sample VAR_035916 commonName VAR_035916 VAR_035917 comment A breast cancer sample VAR_035917 commonName VAR_035917 VAR_035918 comment A breast cancer sample VAR_035918 commonName VAR_035918 VAR_035919 comment A breast cancer sample VAR_035919 commonName VAR_035919 VAR_035920 comment A breast cancer sample VAR_035920 commonName VAR_035920 VAR_035921 comment A breast cancer sample VAR_035921 commonName VAR_035921 VAR_035922 comment A breast cancer sample VAR_035922 commonName VAR_035922 VAR_035923 comment A breast cancer sample VAR_035923 commonName VAR_035923 VAR_035925 comment A breast cancer sample VAR_035925 commonName VAR_035925 VAR_035926 comment A colorectal cancer sample VAR_035926 commonName VAR_035926 VAR_035927 comment A colorectal cancer sample VAR_035927 commonName VAR_035927 VAR_035928 comment A colorectal cancer sample VAR_035928 commonName VAR_035928 VAR_035929 comment A colorectal cancer sample VAR_035929 commonName VAR_035929 VAR_035930 comment A colorectal cancer sample VAR_035930 commonName VAR_035930 VAR_035931 comment A breast cancer sample VAR_035931 commonName VAR_035931 VAR_035932 comment A breast cancer sample VAR_035932 commonName VAR_035932 VAR_035933 comment A colorectal cancer sample VAR_035933 commonName VAR_035933 VAR_035935 comment A colorectal cancer sample VAR_035935 commonName VAR_035935 VAR_035936 comment A breast cancer sample VAR_035936 commonName VAR_035936 VAR_035937 comment A breast cancer sample VAR_035937 commonName VAR_035937 VAR_035938 comment A breast cancer sample VAR_035938 commonName VAR_035938 VAR_035939 comment A colorectal cancer sample VAR_035939 commonName VAR_035939 VAR_035940 comment A breast cancer sample VAR_035940 commonName VAR_035940 VAR_035941 comment A breast cancer sample VAR_035941 commonName VAR_035941 VAR_035942 comment A breast cancer sample VAR_035942 commonName VAR_035942 VAR_035943 comment A colorectal cancer sample VAR_035943 commonName VAR_035943 VAR_035946 comment A breast cancer sample VAR_035946 commonName VAR_035946 VAR_035947 comment A breast cancer sample VAR_035947 commonName VAR_035947 VAR_035948 comment A breast cancer sample VAR_035948 commonName VAR_035948 VAR_035949 comment A breast cancer sample VAR_035949 commonName VAR_035949 VAR_035950 comment A colorectal cancer sample VAR_035950 commonName VAR_035950 VAR_035952 comment A breast cancer sample VAR_035952 commonName VAR_035952 VAR_035953 comment A colorectal cancer sample VAR_035953 commonName VAR_035953 VAR_035954 comment A breast cancer sample VAR_035954 commonName VAR_035954 VAR_035955 comment A colorectal cancer sample VAR_035955 commonName VAR_035955 VAR_035956 comment A colorectal cancer sample VAR_035956 commonName VAR_035956 VAR_035958 comment A breast cancer sample VAR_035958 commonName VAR_035958 VAR_035959 comment A colorectal cancer sample VAR_035959 commonName VAR_035959 VAR_035960 comment A colorectal cancer sample VAR_035960 commonName VAR_035960 VAR_035961 comment A colorectal cancer sample VAR_035961 commonName VAR_035961 VAR_035962 comment A breast cancer sample VAR_035962 commonName VAR_035962 VAR_035963 comment A breast cancer sample VAR_035963 commonName VAR_035963 VAR_035964 comment A breast cancer sample VAR_035964 commonName VAR_035964 VAR_035965 comment A breast cancer sample VAR_035965 commonName VAR_035965 VAR_035966 comment A breast cancer sample VAR_035966 commonName VAR_035966 VAR_035967 comment A breast cancer sample VAR_035967 commonName VAR_035967 VAR_035968 comment A colorectal cancer sample VAR_035968 commonName VAR_035968 VAR_035969 comment A colorectal cancer sample VAR_035969 commonName VAR_035969 VAR_035970 comment A breast cancer sample VAR_035970 commonName VAR_035970 VAR_035971 comment A breast cancer sample VAR_035971 commonName VAR_035971 VAR_035972 comment A breast cancer sample VAR_035972 commonName VAR_035972 VAR_035973 comment A colorectal cancer sample VAR_035973 commonName VAR_035973 VAR_035974 comment A colorectal cancer sample VAR_035974 commonName VAR_035974 VAR_035975 comment A breast cancer sample VAR_035975 commonName VAR_035975 VAR_035976 comment A colorectal cancer sample VAR_035976 commonName VAR_035976 VAR_035977 comment A colorectal cancer sample VAR_035977 commonName VAR_035977 VAR_035978 comment A colorectal cancer sample VAR_035978 commonName VAR_035978 VAR_035979 comment A colorectal cancer sample VAR_035979 commonName VAR_035979 VAR_035980 comment A colorectal cancer sample VAR_035980 commonName VAR_035980 VAR_035981 comment A colorectal cancer sample VAR_035981 commonName VAR_035981 VAR_035982 comment A breast cancer sample VAR_035982 commonName VAR_035982 VAR_035983 comment A breast cancer sample VAR_035983 commonName VAR_035983 VAR_035984 comment A breast cancer sample VAR_035984 commonName VAR_035984 VAR_035985 comment A breast cancer sample VAR_035985 commonName VAR_035985 VAR_035986 comment A colorectal cancer sample VAR_035986 commonName VAR_035986 VAR_035987 comment A colorectal cancer sample VAR_035987 commonName VAR_035987 VAR_035988 comment A colorectal cancer sample VAR_035988 commonName VAR_035988 VAR_035989 comment A breast cancer sample VAR_035989 commonName VAR_035989 VAR_035990 comment A colorectal cancer sample VAR_035990 commonName VAR_035990 VAR_035991 comment A breast cancer sample VAR_035991 commonName VAR_035991 VAR_035992 comment A breast cancer sample VAR_035992 commonName VAR_035992 VAR_035993 comment A colorectal cancer sample VAR_035993 commonName VAR_035993 VAR_035994 comment A colorectal cancer sample VAR_035994 commonName VAR_035994 VAR_035995 comment A colorectal cancer sample VAR_035995 commonName VAR_035995 HbVar.680 ethnic Cypriot VAR_035996 comment A colorectal cancer sample VAR_035996 commonName VAR_035996 VAR_035997 comment A colorectal cancer sample VAR_035997 commonName VAR_035997 VAR_035999 comment A breast cancer sample VAR_035999 commonName VAR_035999 VAR_036000 comment A colorectal cancer sample VAR_036000 commonName VAR_036000 VAR_036001 comment A breast cancer sample VAR_036001 commonName VAR_036001 VAR_036002 comment A breast cancer sample VAR_036002 commonName VAR_036002 VAR_036003 comment A breast cancer sample VAR_036003 commonName VAR_036003 VAR_036004 comment A breast cancer sample VAR_036004 commonName VAR_036004 VAR_036005 comment A breast cancer sample VAR_036005 commonName VAR_036005 VAR_036006 comment A breast cancer sample VAR_036006 commonName VAR_036006 VAR_036007 comment A colorectal cancer sample VAR_036007 commonName VAR_036007 VAR_036008 comment A colorectal cancer sample VAR_036008 commonName VAR_036008 VAR_036009 comment A breast cancer sample VAR_036009 commonName VAR_036009 VAR_036010 comment A breast cancer sample VAR_036010 commonName VAR_036010 VAR_036011 comment A colorectal cancer sample VAR_036011 commonName VAR_036011 VAR_036012 comment A colorectal cancer sample VAR_036012 commonName VAR_036012 VAR_036013 comment Colorectal cancer VAR_036013 commonName VAR_036013 VAR_036014 comment A colorectal cancer sample VAR_036014 commonName VAR_036014 VAR_036015 comment A colorectal cancer sample VAR_036015 commonName VAR_036015 VAR_036016 comment A colorectal cancer sample VAR_036016 commonName VAR_036016 VAR_036017 comment A colorectal cancer sample VAR_036017 commonName VAR_036017 VAR_036021 comment A colorectal cancer sample VAR_036021 commonName VAR_036021 VAR_036022 comment A colorectal cancer sample VAR_036022 commonName VAR_036022 VAR_036026 comment A breast cancer sample VAR_036026 commonName VAR_036026 VAR_036027 comment A breast cancer sample VAR_036027 commonName VAR_036027 VAR_036028 comment A colorectal cancer sample VAR_036028 commonName VAR_036028 VAR_036029 comment A breast cancer sample VAR_036029 commonName VAR_036029 VAR_036030 comment A breast cancer sample VAR_036030 commonName VAR_036030 VAR_036031 comment A breast cancer sample VAR_036031 commonName VAR_036031 VAR_036033 comment A colorectal cancer sample VAR_036033 commonName VAR_036033 VAR_036034 comment A breast cancer sample VAR_036034 commonName VAR_036034 VAR_036035 comment A breast cancer sample VAR_036035 commonName VAR_036035 VAR_036036 comment A colorectal cancer sample VAR_036036 commonName VAR_036036 VAR_036037 comment A breast cancer sample VAR_036037 commonName VAR_036037 VAR_036038 comment A breast cancer sample VAR_036038 commonName VAR_036038 VAR_036039 comment A breast cancer sample VAR_036039 commonName VAR_036039 VAR_036040 comment A colorectal cancer sample VAR_036040 commonName VAR_036040 VAR_036041 comment A breast cancer sample VAR_036041 commonName VAR_036041 VAR_036042 comment A breast cancer sample VAR_036042 commonName VAR_036042 VAR_036044 comment A breast cancer sample VAR_036044 commonName VAR_036044 VAR_036045 comment A breast cancer sample VAR_036045 commonName VAR_036045 VAR_036046 comment A colorectal cancer sample VAR_036046 commonName VAR_036046 VAR_036047 comment A breast cancer sample VAR_036047 commonName VAR_036047 VAR_036048 comment A colorectal cancer sample VAR_036048 commonName VAR_036048 VAR_036049 comment A colorectal cancer sample VAR_036049 commonName VAR_036049 VAR_036050 comment A breast cancer sample VAR_036050 commonName VAR_036050 VAR_036051 comment A colorectal cancer sample VAR_036051 commonName VAR_036051 VAR_036052 comment A breast cancer sample VAR_036052 commonName VAR_036052 VAR_036053 comment A breast cancer sample VAR_036053 commonName VAR_036053 VAR_036054 comment A colorectal cancer sample VAR_036054 commonName VAR_036054 VAR_036055 comment A colorectal cancer sample VAR_036055 commonName VAR_036055 VAR_036056 comment A breast cancer sample VAR_036056 commonName VAR_036056 VAR_036057 comment A breast cancer sample VAR_036057 commonName VAR_036057 VAR_036058 comment A colorectal cancer sample VAR_036058 commonName VAR_036058 VAR_036059 comment A colorectal cancer sample VAR_036059 commonName VAR_036059 VAR_036060 comment A colorectal cancer sample VAR_036060 commonName VAR_036060 VAR_036061 comment A breast cancer sample VAR_036061 commonName VAR_036061 VAR_036062 comment A colorectal cancer sample VAR_036062 commonName VAR_036062 VAR_036064 comment A breast cancer sample VAR_036064 commonName VAR_036064 VAR_036065 comment A colorectal cancer sample VAR_036065 commonName VAR_036065 VAR_036066 comment A colorectal cancer sample VAR_036066 commonName VAR_036066 VAR_036067 comment A colorectal cancer sample VAR_036067 commonName VAR_036067 VAR_036068 comment A colorectal cancer sample VAR_036068 commonName VAR_036068 VAR_036070 comment A colorectal cancer sample VAR_036070 commonName VAR_036070 VAR_036071 comment A colorectal cancer sample VAR_036071 commonName VAR_036071 VAR_036072 comment A colorectal cancer sample VAR_036072 commonName VAR_036072 VAR_036073 comment A breast cancer sample VAR_036073 commonName VAR_036073 VAR_036074 comment A breast cancer sample VAR_036074 commonName VAR_036074 VAR_036075 comment A breast cancer sample VAR_036075 commonName VAR_036075 VAR_036076 comment A breast cancer sample VAR_036076 commonName VAR_036076 VAR_036077 comment A colorectal cancer sample VAR_036077 commonName VAR_036077 VAR_036078 comment A colorectal cancer sample VAR_036078 commonName VAR_036078 VAR_036079 comment A breast cancer sample VAR_036079 commonName VAR_036079 VAR_036080 comment A breast cancer sample VAR_036080 commonName VAR_036080 VAR_036081 comment A colorectal cancer sample VAR_036081 commonName VAR_036081 VAR_036082 comment A breast cancer sample VAR_036082 commonName VAR_036082 VAR_036083 comment A breast cancer sample VAR_036083 commonName VAR_036083 VAR_036084 comment A breast cancer sample VAR_036084 commonName VAR_036084 VAR_036085 comment A breast cancer sample VAR_036085 commonName VAR_036085 VAR_036086 comment A colorectal cancer sample VAR_036086 commonName VAR_036086 VAR_036087 comment A colorectal cancer sample VAR_036087 commonName VAR_036087 VAR_036088 comment A colorectal cancer sample VAR_036088 commonName VAR_036088 VAR_036089 comment A colorectal cancer sample VAR_036089 commonName VAR_036089 VAR_036090 comment A colorectal cancer sample VAR_036090 commonName VAR_036090 VAR_036091 comment A colorectal cancer sample VAR_036091 commonName VAR_036091 VAR_036092 comment A colorectal cancer sample VAR_036092 commonName VAR_036092 VAR_036093 comment A colorectal cancer sample VAR_036093 commonName VAR_036093 VAR_036095 comment A breast cancer sample VAR_036095 commonName VAR_036095 VAR_036096 comment A breast cancer sample VAR_036096 commonName VAR_036096 VAR_036097 comment A breast cancer sample VAR_036097 commonName VAR_036097 VAR_036098 comment A breast cancer sample VAR_036098 commonName VAR_036098 VAR_036099 comment A colorectal cancer sample VAR_036099 commonName VAR_036099 VAR_036100 comment A breast cancer sample VAR_036100 commonName VAR_036100 VAR_036101 comment A colorectal cancer sample VAR_036101 commonName VAR_036101 VAR_036102 comment A breast cancer sample VAR_036102 commonName VAR_036102 VAR_036103 comment A breast cancer sample VAR_036103 commonName VAR_036103 VAR_036104 comment A breast cancer sample VAR_036104 commonName VAR_036104 VAR_036105 comment A breast cancer sample VAR_036105 commonName VAR_036105 VAR_036106 comment A breast cancer sample VAR_036106 commonName VAR_036106 VAR_036107 comment A breast cancer sample VAR_036107 commonName VAR_036107 VAR_036108 comment A breast cancer sample VAR_036108 commonName VAR_036108 VAR_036109 comment A colorectal cancer sample VAR_036109 commonName VAR_036109 VAR_036110 comment A colorectal cancer sample VAR_036110 commonName VAR_036110 VAR_036112 comment A colorectal cancer sample VAR_036112 commonName VAR_036112 VAR_036114 comment A colorectal cancer sample VAR_036114 commonName VAR_036114 VAR_036115 comment A colorectal cancer sample VAR_036115 commonName VAR_036115 VAR_036116 comment A breast cancer sample VAR_036116 commonName VAR_036116 VAR_036117 comment A colorectal cancer sample VAR_036117 commonName VAR_036117 VAR_036118 comment A breast cancer sample VAR_036118 commonName VAR_036118 VAR_036119 comment A breast cancer sample VAR_036119 commonName VAR_036119 VAR_036120 comment A breast cancer sample VAR_036120 commonName VAR_036120 VAR_036121 comment A breast cancer sample VAR_036121 commonName VAR_036121 VAR_036122 comment A breast cancer sample VAR_036122 commonName VAR_036122 VAR_036123 comment A breast cancer sample VAR_036123 commonName VAR_036123 VAR_036124 comment A breast cancer sample VAR_036124 commonName VAR_036124 VAR_036125 comment A colorectal cancer sample VAR_036125 commonName VAR_036125 VAR_036126 comment A colorectal cancer sample VAR_036126 commonName VAR_036126 VAR_036127 comment A colorectal cancer sample VAR_036127 commonName VAR_036127 VAR_036128 comment A breast cancer sample VAR_036128 commonName VAR_036128 VAR_036129 comment A breast cancer sample VAR_036129 commonName VAR_036129 VAR_036130 comment A breast cancer sample VAR_036130 commonName VAR_036130 VAR_036131 comment A colorectal cancer sample VAR_036131 commonName VAR_036131 VAR_036132 comment A breast cancer sample VAR_036132 commonName VAR_036132 VAR_036133 comment A breast cancer sample VAR_036133 commonName VAR_036133 VAR_036135 comment A colorectal cancer sample VAR_036135 commonName VAR_036135 VAR_036136 comment A colorectal cancer sample VAR_036136 commonName VAR_036136 VAR_036137 comment A colorectal cancer sample VAR_036137 commonName VAR_036137 VAR_036139 comment A breast cancer sample VAR_036139 commonName VAR_036139 VAR_036140 comment A colorectal cancer sample VAR_036140 commonName VAR_036140 VAR_036141 comment A breast cancer sample VAR_036141 commonName VAR_036141 VAR_036142 comment A breast cancer sample VAR_036142 commonName VAR_036142 VAR_036143 comment A breast cancer sample VAR_036143 commonName VAR_036143 VAR_036144 comment A breast cancer sample VAR_036144 commonName VAR_036144 VAR_036145 comment A breast cancer sample VAR_036145 commonName VAR_036145 VAR_036146 comment A colorectal cancer sample VAR_036146 commonName VAR_036146 VAR_036147 comment A colorectal cancer sample VAR_036147 commonName VAR_036147 VAR_036148 comment A colorectal cancer sample VAR_036148 commonName VAR_036148 VAR_036149 comment A colorectal cancer sample VAR_036149 commonName VAR_036149 VAR_036150 comment A colorectal cancer sample VAR_036150 commonName VAR_036150 VAR_036151 comment A colorectal cancer sample VAR_036151 commonName VAR_036151 VAR_036152 comment A colorectal cancer sample VAR_036152 commonName VAR_036152 VAR_036153 comment A colorectal cancer sample VAR_036153 commonName VAR_036153 VAR_036154 comment A breast cancer sample VAR_036154 commonName VAR_036154 VAR_036155 comment A colorectal cancer sample VAR_036155 commonName VAR_036155 VAR_036156 comment A breast cancer sample VAR_036156 commonName VAR_036156 VAR_036157 comment A breast cancer sample VAR_036157 commonName VAR_036157 VAR_036158 comment A breast cancer sample VAR_036158 commonName VAR_036158 VAR_036159 comment A breast cancer sample VAR_036159 commonName VAR_036159 VAR_036161 comment A breast cancer sample VAR_036161 commonName VAR_036161 VAR_036163 comment A breast cancer sample VAR_036163 commonName VAR_036163 VAR_036164 comment A breast cancer sample VAR_036164 commonName VAR_036164 VAR_036165 comment A colorectal cancer sample VAR_036165 commonName VAR_036165 VAR_036166 comment A colorectal cancer sample VAR_036166 commonName VAR_036166 VAR_036167 comment A colorectal cancer sample VAR_036167 commonName VAR_036167 VAR_036168 comment A colorectal cancer sample VAR_036168 commonName VAR_036168 VAR_036169 comment A colorectal cancer sample VAR_036169 commonName VAR_036169 VAR_036170 comment A colorectal cancer sample VAR_036170 commonName VAR_036170 VAR_036171 comment A breast cancer sample VAR_036171 commonName VAR_036171 VAR_036172 comment A breast cancer sample VAR_036172 commonName VAR_036172 VAR_036173 comment A colorectal cancer sample VAR_036173 commonName VAR_036173 VAR_036174 comment A breast cancer sample VAR_036174 commonName VAR_036174 VAR_036175 comment A breast cancer sample VAR_036175 commonName VAR_036175 VAR_036176 comment A breast cancer sample VAR_036176 commonName VAR_036176 VAR_036177 comment A breast cancer sample VAR_036177 commonName VAR_036177 VAR_036178 comment A breast cancer sample VAR_036178 commonName VAR_036178 VAR_036179 comment A colorectal cancer sample VAR_036179 commonName VAR_036179 VAR_036180 comment A colorectal cancer sample VAR_036180 commonName VAR_036180 VAR_036181 comment A breast cancer sample VAR_036181 commonName VAR_036181 VAR_036185 comment A breast cancer sample VAR_036185 commonName VAR_036185 VAR_036186 comment A colorectal cancer sample VAR_036186 commonName VAR_036186 VAR_036191 comment A breast cancer sample VAR_036191 commonName VAR_036191 VAR_036192 comment A breast cancer sample VAR_036192 commonName VAR_036192 VAR_036194 comment A colorectal cancer sample VAR_036194 commonName VAR_036194 VAR_036195 comment A breast cancer sample VAR_036195 commonName VAR_036195 VAR_036196 comment A breast cancer sample VAR_036196 commonName VAR_036196 VAR_036197 comment A colorectal cancer sample VAR_036197 commonName VAR_036197 VAR_036198 comment A breast cancer sample VAR_036198 commonName VAR_036198 VAR_036199 comment A breast cancer sample VAR_036199 commonName VAR_036199 VAR_036200 comment A colorectal cancer sample VAR_036200 commonName VAR_036200 VAR_036201 comment A colorectal cancer sample VAR_036201 commonName VAR_036201 VAR_036202 comment A colorectal cancer sample VAR_036202 commonName VAR_036202 VAR_036203 comment A colorectal cancer sample VAR_036203 commonName VAR_036203 VAR_036204 comment A colorectal cancer sample VAR_036204 commonName VAR_036204 VAR_036205 comment A colorectal cancer sample VAR_036205 commonName VAR_036205 VAR_036206 comment A breast cancer sample VAR_036206 commonName VAR_036206 VAR_036207 comment A colorectal cancer sample VAR_036207 commonName VAR_036207 VAR_036208 comment A breast cancer sample VAR_036208 commonName VAR_036208 VAR_036213 comment A colorectal cancer sample VAR_036213 commonName VAR_036213 VAR_036214 comment A breast cancer sample VAR_036214 commonName VAR_036214 VAR_036215 comment A breast cancer sample VAR_036215 commonName VAR_036215 VAR_036216 comment A breast cancer sample VAR_036216 commonName VAR_036216 VAR_036217 comment A breast cancer sample VAR_036217 commonName VAR_036217 VAR_036218 comment A breast cancer sample VAR_036218 commonName VAR_036218 VAR_036219 comment A breast cancer sample VAR_036219 commonName VAR_036219 VAR_036220 comment A breast cancer sample VAR_036220 commonName VAR_036220 VAR_036221 comment A colorectal cancer sample VAR_036221 commonName VAR_036221 VAR_036222 comment A colorectal cancer sample VAR_036222 commonName VAR_036222 VAR_036223 comment A colorectal cancer sample VAR_036223 commonName VAR_036223 VAR_036224 comment A breast cancer sample VAR_036224 commonName VAR_036224 VAR_036225 comment A breast cancer sample VAR_036225 commonName VAR_036225 VAR_036226 comment A breast cancer sample VAR_036226 commonName VAR_036226 VAR_036227 comment A colorectal cancer sample VAR_036227 commonName VAR_036227 VAR_036228 comment A colorectal cancer sample VAR_036228 commonName VAR_036228 VAR_036229 comment A colorectal cancer sample VAR_036229 commonName VAR_036229 VAR_036230 comment A colorectal cancer sample VAR_036230 commonName VAR_036230 VAR_036231 comment A colorectal cancer sample VAR_036231 commonName VAR_036231 VAR_036232 comment A breast cancer sample VAR_036232 commonName VAR_036232 VAR_036233 comment A breast cancer sample VAR_036233 commonName VAR_036233 VAR_036234 comment A breast cancer sample VAR_036234 commonName VAR_036234 VAR_036235 comment A colorectal cancer sample VAR_036235 commonName VAR_036235 VAR_036236 comment A colorectal cancer sample VAR_036236 commonName VAR_036236 VAR_036237 comment A colorectal cancer sample VAR_036237 commonName VAR_036237 VAR_036238 comment A colorectal cancer sample VAR_036238 commonName VAR_036238 VAR_036239 comment A colorectal cancer sample VAR_036239 commonName VAR_036239 VAR_036240 comment A breast cancer sample VAR_036240 commonName VAR_036240 VAR_036241 comment A breast cancer sample VAR_036241 commonName VAR_036241 VAR_036242 comment A breast cancer sample VAR_036242 commonName VAR_036242 VAR_036243 comment A colorectal cancer sample VAR_036243 commonName VAR_036243 VAR_036245 comment A breast cancer sample VAR_036245 commonName VAR_036245 VAR_036246 comment A breast cancer sample VAR_036246 commonName VAR_036246 VAR_036247 comment A breast cancer sample VAR_036247 commonName VAR_036247 VAR_036248 comment A colorectal cancer sample VAR_036248 commonName VAR_036248 VAR_036249 comment A colorectal cancer sample VAR_036249 commonName VAR_036249 VAR_036250 comment A colorectal cancer sample VAR_036250 commonName VAR_036250 VAR_036251 comment A colorectal cancer sample VAR_036251 commonName VAR_036251 VAR_036252 comment A colorectal cancer sample VAR_036252 commonName VAR_036252 VAR_036253 comment A colorectal cancer sample VAR_036253 commonName VAR_036253 VAR_036254 comment A colorectal cancer sample VAR_036254 commonName VAR_036254 VAR_036255 comment A breast cancer sample VAR_036255 commonName VAR_036255 VAR_036256 comment A breast cancer sample VAR_036256 commonName VAR_036256 VAR_036257 comment A breast cancer sample VAR_036257 commonName VAR_036257 VAR_036258 comment A breast cancer sample VAR_036258 commonName VAR_036258 VAR_036259 comment A colorectal cancer sample VAR_036259 commonName VAR_036259 VAR_036260 comment A breast cancer sample VAR_036260 commonName VAR_036260 VAR_036261 comment A colorectal cancer sample VAR_036261 commonName VAR_036261 VAR_036262 comment A breast cancer sample VAR_036262 commonName VAR_036262 VAR_036263 comment A breast cancer sample VAR_036263 commonName VAR_036263 VAR_036264 comment A breast cancer sample VAR_036264 commonName VAR_036264 VAR_036265 comment A breast cancer sample VAR_036265 commonName VAR_036265 VAR_036266 comment A breast cancer sample VAR_036266 commonName VAR_036266 VAR_036267 comment A colorectal cancer sample VAR_036267 commonName VAR_036267 VAR_036268 comment A breast cancer sample VAR_036268 commonName VAR_036268 VAR_036269 comment A colorectal cancer sample VAR_036269 commonName VAR_036269 VAR_036270 comment A breast cancer sample VAR_036270 commonName VAR_036270 VAR_036271 comment A colorectal cancer sample VAR_036271 commonName VAR_036271 VAR_036272 comment A colorectal cancer sample VAR_036272 commonName VAR_036272 VAR_036273 comment A breast cancer sample VAR_036273 commonName VAR_036273 VAR_036274 comment A breast cancer sample VAR_036274 commonName VAR_036274 VAR_036275 comment A breast cancer sample VAR_036275 commonName VAR_036275 VAR_036276 comment A breast cancer sample VAR_036276 commonName VAR_036276 VAR_036278 comment A colorectal cancer sample VAR_036278 commonName VAR_036278 VAR_036279 comment A colorectal cancer sample VAR_036279 commonName VAR_036279 VAR_036280 comment A colorectal cancer sample VAR_036280 commonName VAR_036280 VAR_036281 comment A breast cancer sample VAR_036281 commonName VAR_036281 VAR_036282 comment A breast cancer sample VAR_036282 commonName VAR_036282 VAR_036283 comment A breast cancer sample VAR_036283 commonName VAR_036283 VAR_036284 comment A breast cancer sample VAR_036284 commonName VAR_036284 VAR_036285 comment A breast cancer sample VAR_036285 commonName VAR_036285 VAR_036286 comment A colorectal cancer sample VAR_036286 commonName VAR_036286 VAR_036287 comment A breast cancer sample VAR_036287 commonName VAR_036287 VAR_036288 comment A colorectal cancer sample VAR_036288 commonName VAR_036288 VAR_036289 comment A colorectal cancer sample VAR_036289 commonName VAR_036289 VAR_036290 comment A colorectal cancer sample VAR_036290 commonName VAR_036290 VAR_036291 comment A colorectal cancer sample VAR_036291 commonName VAR_036291 VAR_036292 comment A colorectal cancer sample VAR_036292 commonName VAR_036292 VAR_036294 comment A breast cancer sample VAR_036294 commonName VAR_036294 VAR_036295 comment A breast cancer sample VAR_036295 commonName VAR_036295 VAR_036296 comment A breast cancer sample VAR_036296 commonName VAR_036296 VAR_036297 comment A breast cancer sample VAR_036297 commonName VAR_036297 VAR_036298 comment A breast cancer sample VAR_036298 commonName VAR_036298 VAR_036299 comment A colorectal cancer sample VAR_036299 commonName VAR_036299 VAR_036300 comment A breast cancer sample VAR_036300 commonName VAR_036300 VAR_036301 comment A breast cancer sample VAR_036301 commonName VAR_036301 VAR_036303 comment A colorectal cancer sample VAR_036303 commonName VAR_036303 VAR_036304 comment A colorectal cancer sample VAR_036304 commonName VAR_036304 VAR_036305 comment A colorectal cancer sample VAR_036305 commonName VAR_036305 VAR_036306 comment A colorectal cancer sample VAR_036306 commonName VAR_036306 VAR_036307 comment A colorectal cancer sample VAR_036307 commonName VAR_036307 VAR_036308 comment A colorectal cancer sample VAR_036308 commonName VAR_036308 VAR_036309 comment A breast cancer sample VAR_036309 commonName VAR_036309 VAR_036310 comment A colorectal cancer sample VAR_036310 commonName VAR_036310 VAR_036311 comment A colorectal cancer sample VAR_036311 commonName VAR_036311 VAR_036312 comment A colorectal cancer sample VAR_036312 commonName VAR_036312 VAR_036313 comment A colorectal cancer sample VAR_036313 commonName VAR_036313 VAR_036314 comment A colorectal cancer sample VAR_036314 commonName VAR_036314 VAR_036315 comment A colorectal cancer sample VAR_036315 commonName VAR_036315 VAR_036317 comment A breast cancer sample VAR_036317 commonName VAR_036317 VAR_036318 comment A colorectal cancer sample VAR_036318 commonName VAR_036318 VAR_036319 comment A colorectal cancer sample VAR_036319 commonName VAR_036319 VAR_036320 comment A breast cancer sample VAR_036320 commonName VAR_036320 VAR_036321 comment A colorectal cancer sample VAR_036321 commonName VAR_036321 VAR_036322 comment A colorectal cancer sample VAR_036322 commonName VAR_036322 VAR_036323 comment A colorectal cancer sample VAR_036323 commonName VAR_036323 VAR_036324 comment A colorectal cancer sample VAR_036324 commonName VAR_036324 VAR_036325 comment A breast cancer sample VAR_036325 commonName VAR_036325 VAR_036326 comment A breast cancer sample VAR_036326 commonName VAR_036326 VAR_036327 comment A breast cancer sample VAR_036327 commonName VAR_036327 VAR_036328 comment A colorectal cancer sample VAR_036328 commonName VAR_036328 VAR_036330 comment A breast cancer sample VAR_036330 commonName VAR_036330 VAR_036331 comment A colorectal cancer sample VAR_036331 commonName VAR_036331 VAR_036332 comment A colorectal cancer sample VAR_036332 commonName VAR_036332 VAR_036333 comment A breast cancer sample VAR_036333 commonName VAR_036333 VAR_036334 comment A breast cancer sample VAR_036334 commonName VAR_036334 VAR_036335 comment A breast cancer sample VAR_036335 commonName VAR_036335 VAR_036336 comment A colorectal cancer sample VAR_036336 commonName VAR_036336 VAR_036337 comment A breast cancer sample VAR_036337 commonName VAR_036337 VAR_036338 comment A breast cancer sample VAR_036338 commonName VAR_036338 VAR_036339 comment A breast cancer sample VAR_036339 commonName VAR_036339 VAR_036340 comment A breast cancer sample VAR_036340 commonName VAR_036340 VAR_036341 comment A colorectal cancer sample VAR_036341 commonName VAR_036341 VAR_036342 comment A colorectal cancer sample VAR_036342 commonName VAR_036342 VAR_036343 comment A breast cancer sample VAR_036343 commonName VAR_036343 VAR_036345 comment A breast cancer sample VAR_036345 commonName VAR_036345 VAR_036346 comment A breast cancer sample VAR_036346 commonName VAR_036346 VAR_036347 comment A breast cancer sample VAR_036347 commonName VAR_036347 VAR_036348 comment A colorectal cancer sample VAR_036348 commonName VAR_036348 VAR_036349 comment A colorectal cancer sample VAR_036349 commonName VAR_036349 VAR_036350 comment A colorectal cancer sample VAR_036350 commonName VAR_036350 VAR_036352 comment A breast cancer sample VAR_036352 commonName VAR_036352 VAR_036353 comment A colorectal cancer sample VAR_036353 commonName VAR_036353 VAR_036354 comment A breast cancer sample VAR_036354 commonName VAR_036354 VAR_036355 comment A breast cancer sample VAR_036355 commonName VAR_036355 VAR_036356 comment A colorectal cancer sample VAR_036356 commonName VAR_036356 VAR_036357 comment A colorectal cancer sample VAR_036357 commonName VAR_036357 VAR_036358 comment A breast cancer sample VAR_036358 commonName VAR_036358 VAR_036359 comment A colorectal cancer sample VAR_036359 commonName VAR_036359 VAR_036360 comment A breast cancer sample VAR_036360 commonName VAR_036360 VAR_036361 comment A breast cancer sample VAR_036361 commonName VAR_036361 VAR_036362 comment A colorectal cancer sample VAR_036362 commonName VAR_036362 VAR_036363 comment A breast cancer sample VAR_036363 commonName VAR_036363 VAR_036364 comment A colorectal cancer sample VAR_036364 commonName VAR_036364 VAR_036365 comment A breast cancer sample VAR_036365 commonName VAR_036365 VAR_036366 comment A colorectal cancer sample VAR_036366 commonName VAR_036366 VAR_036367 comment A colorectal cancer sample VAR_036367 commonName VAR_036367 VAR_036368 comment A breast cancer sample VAR_036368 commonName VAR_036368 VAR_036369 comment A breast cancer sample VAR_036369 commonName VAR_036369 VAR_036370 comment A colorectal cancer sample VAR_036370 commonName VAR_036370 VAR_036371 comment A breast cancer sample VAR_036371 commonName VAR_036371 VAR_036372 comment A breast cancer sample VAR_036372 commonName VAR_036372 VAR_036373 comment A colorectal cancer sample VAR_036373 commonName VAR_036373 VAR_036374 comment A breast cancer sample VAR_036374 commonName VAR_036374 VAR_036375 comment A breast cancer sample VAR_036375 commonName VAR_036375 VAR_036376 comment A colorectal cancer sample VAR_036376 commonName VAR_036376 VAR_036377 comment A colorectal cancer sample VAR_036377 commonName VAR_036377 VAR_036378 comment A colorectal cancer sample VAR_036378 commonName VAR_036378 VAR_036379 comment A breast cancer sample VAR_036379 commonName VAR_036379 VAR_036380 comment Breast cancer samples VAR_036380 commonName VAR_036380 VAR_036381 comment A breast cancer sample VAR_036381 commonName VAR_036381 VAR_036382 comment A breast cancer sample VAR_036382 commonName VAR_036382 VAR_036383 comment A breast cancer sample VAR_036383 commonName VAR_036383 VAR_036384 comment A breast cancer sample VAR_036384 commonName VAR_036384 VAR_036385 comment A colorectal cancer sample VAR_036385 commonName VAR_036385 VAR_036386 comment A breast cancer sample VAR_036386 commonName VAR_036386 VAR_036387 comment A breast cancer sample VAR_036387 commonName VAR_036387 VAR_036388 comment A breast cancer sample VAR_036388 commonName VAR_036388 VAR_036389 comment A breast cancer sample VAR_036389 commonName VAR_036389 VAR_036390 comment A colorectal cancer sample VAR_036390 commonName VAR_036390 VAR_036391 comment A colorectal cancer sample VAR_036391 commonName VAR_036391 VAR_036392 comment A breast cancer sample VAR_036392 commonName VAR_036392 VAR_036393 comment A breast cancer sample VAR_036393 commonName VAR_036393 VAR_036394 comment A breast cancer sample VAR_036394 commonName VAR_036394 VAR_036395 comment A breast cancer sample VAR_036395 commonName VAR_036395 VAR_036396 comment A colorectal cancer sample VAR_036396 commonName VAR_036396 VAR_036397 comment A breast cancer sample VAR_036397 commonName VAR_036397 VAR_036398 comment A colorectal cancer sample VAR_036398 commonName VAR_036398 VAR_036399 comment A colorectal cancer sample VAR_036399 commonName VAR_036399 VAR_036400 comment A colorectal cancer sample VAR_036400 commonName VAR_036400 VAR_036401 comment A colorectal cancer sample VAR_036401 commonName VAR_036401 VAR_036402 comment A colorectal cancer sample VAR_036402 commonName VAR_036402 VAR_036403 comment A breast cancer sample VAR_036403 commonName VAR_036403 VAR_036404 comment A breast cancer sample VAR_036404 commonName VAR_036404 VAR_036405 comment A colorectal cancer sample VAR_036405 commonName VAR_036405 VAR_036406 comment A breast cancer sample VAR_036406 commonName VAR_036406 VAR_036408 comment A breast cancer sample VAR_036408 commonName VAR_036408 VAR_036409 comment A colorectal cancer sample VAR_036409 commonName VAR_036409 VAR_036410 comment A colorectal cancer sample VAR_036410 commonName VAR_036410 VAR_036411 comment A colorectal cancer sample VAR_036411 commonName VAR_036411 VAR_036412 comment A breast cancer sample VAR_036412 commonName VAR_036412 VAR_036413 comment A colorectal cancer sample VAR_036413 commonName VAR_036413 VAR_036414 comment A colorectal cancer sample VAR_036414 commonName VAR_036414 VAR_036415 comment A colorectal cancer sample VAR_036415 commonName VAR_036415 VAR_036416 comment A breast cancer sample VAR_036416 commonName VAR_036416 VAR_036417 comment A breast cancer sample VAR_036417 commonName VAR_036417 VAR_036418 comment A colorectal cancer sample VAR_036418 commonName VAR_036418 VAR_036419 comment A breast cancer sample VAR_036419 commonName VAR_036419 VAR_036420 comment A colorectal cancer sample VAR_036420 commonName VAR_036420 VAR_036421 comment A colorectal cancer sample VAR_036421 commonName VAR_036421 VAR_036422 comment A breast cancer sample VAR_036422 commonName VAR_036422 VAR_036423 comment A breast cancer sample VAR_036423 commonName VAR_036423 VAR_036424 comment A breast cancer sample VAR_036424 commonName VAR_036424 VAR_036425 comment A breast cancer sample VAR_036425 commonName VAR_036425 VAR_036426 comment A breast cancer sample VAR_036426 commonName VAR_036426 VAR_036427 comment A breast cancer sample VAR_036427 commonName VAR_036427 VAR_036428 comment A colorectal cancer sample VAR_036428 commonName VAR_036428 VAR_036429 comment A colorectal cancer sample VAR_036429 commonName VAR_036429 VAR_036430 comment A breast cancer sample VAR_036430 commonName VAR_036430 VAR_036431 comment A breast cancer sample VAR_036431 commonName VAR_036431 VAR_036432 comment A breast cancer sample VAR_036432 commonName VAR_036432 VAR_036433 comment A breast cancer sample VAR_036433 commonName VAR_036433 VAR_036434 comment A colorectal cancer sample VAR_036434 commonName VAR_036434 VAR_036435 comment A breast cancer sample VAR_036435 commonName VAR_036435 VAR_036436 comment A breast cancer sample VAR_036436 commonName VAR_036436 VAR_036437 comment A colorectal cancer sample VAR_036437 commonName VAR_036437 VAR_036438 comment A breast cancer sample VAR_036438 commonName VAR_036438 VAR_036439 comment A colorectal cancer sample VAR_036439 commonName VAR_036439 VAR_036440 comment A colorectal cancer sample VAR_036440 commonName VAR_036440 VAR_036441 comment A breast cancer sample VAR_036441 commonName VAR_036441 VAR_036442 comment A breast cancer sample VAR_036442 commonName VAR_036442 VAR_036444 comment A colorectal cancer sample VAR_036444 commonName VAR_036444 VAR_036445 comment A colorectal cancer sample VAR_036445 commonName VAR_036445 VAR_036446 comment A breast cancer sample VAR_036446 commonName VAR_036446 VAR_036447 comment A breast cancer sample VAR_036447 commonName VAR_036447 VAR_036448 comment A colorectal cancer sample VAR_036448 commonName VAR_036448 VAR_036449 comment A colorectal cancer sample VAR_036449 commonName VAR_036449 VAR_036450 comment A colorectal cancer sample VAR_036450 commonName VAR_036450 VAR_036451 comment Breast cancer samples VAR_036451 commonName VAR_036451 VAR_036452 comment A breast cancer sample VAR_036452 commonName VAR_036452 VAR_036453 comment A breast cancer sample VAR_036453 commonName VAR_036453 VAR_036455 comment A breast cancer sample VAR_036455 commonName VAR_036455 VAR_036456 comment A breast cancer sample VAR_036456 commonName VAR_036456 VAR_036457 comment A breast cancer sample VAR_036457 commonName VAR_036457 VAR_036458 comment A breast cancer sample VAR_036458 commonName VAR_036458 VAR_036459 comment A colorectal cancer sample VAR_036459 commonName VAR_036459 VAR_036460 comment A breast cancer sample VAR_036460 commonName VAR_036460 VAR_036461 comment A colorectal cancer sample VAR_036461 commonName VAR_036461 VAR_036463 comment A breast cancer sample VAR_036463 commonName VAR_036463 VAR_036464 comment A colorectal cancer sample VAR_036464 commonName VAR_036464 VAR_036465 comment A colorectal cancer sample VAR_036465 commonName VAR_036465 VAR_036466 comment A breast cancer sample VAR_036466 commonName VAR_036466 VAR_036467 comment A breast cancer sample VAR_036467 commonName VAR_036467 VAR_036468 comment A breast cancer sample VAR_036468 commonName VAR_036468 VAR_036469 comment A colorectal cancer sample VAR_036469 commonName VAR_036469 VAR_036470 comment A colorectal cancer sample VAR_036470 commonName VAR_036470 VAR_036471 comment A colorectal cancer sample VAR_036471 commonName VAR_036471 VAR_036472 comment A breast cancer sample VAR_036472 commonName VAR_036472 VAR_036473 comment A colorectal cancer sample VAR_036473 commonName VAR_036473 VAR_036475 comment A colorectal cancer sample VAR_036475 commonName VAR_036475 VAR_036476 comment A colorectal cancer sample VAR_036476 commonName VAR_036476 VAR_036477 comment A colorectal cancer sample VAR_036477 commonName VAR_036477 VAR_036478 comment A colorectal cancer sample VAR_036478 commonName VAR_036478 VAR_036479 comment A colorectal cancer sample VAR_036479 commonName VAR_036479 VAR_036480 comment A colorectal cancer sample VAR_036480 commonName VAR_036480 VAR_036481 comment A breast cancer sample VAR_036481 commonName VAR_036481 VAR_036482 comment A breast cancer sample VAR_036482 commonName VAR_036482 VAR_036483 comment A colorectal cancer sample VAR_036483 commonName VAR_036483 VAR_036484 comment A breast cancer sample VAR_036484 commonName VAR_036484 VAR_036485 comment A breast cancer sample VAR_036485 commonName VAR_036485 VAR_036486 comment A breast cancer sample VAR_036486 commonName VAR_036486 VAR_036487 comment A breast cancer sample VAR_036487 commonName VAR_036487 VAR_036488 comment A breast cancer sample VAR_036488 commonName VAR_036488 VAR_036489 comment A breast cancer sample VAR_036489 commonName VAR_036489 VAR_036490 comment A breast cancer sample VAR_036490 commonName VAR_036490 VAR_036491 comment A breast cancer sample VAR_036491 commonName VAR_036491 VAR_036492 comment A breast cancer sample VAR_036492 commonName VAR_036492 VAR_036493 comment A colorectal cancer sample VAR_036493 commonName VAR_036493 VAR_036494 comment A breast cancer sample VAR_036494 commonName VAR_036494 VAR_036495 comment A breast cancer sample VAR_036495 commonName VAR_036495 VAR_036496 comment A colorectal cancer sample VAR_036496 commonName VAR_036496 VAR_036497 comment A breast cancer sample VAR_036497 commonName VAR_036497 VAR_036498 comment A breast cancer sample VAR_036498 commonName VAR_036498 VAR_036499 comment A breast cancer sample VAR_036499 commonName VAR_036499 VAR_036500 comment A breast cancer sample VAR_036500 commonName VAR_036500 VAR_036501 comment A colorectal cancer sample VAR_036501 commonName VAR_036501 VAR_036502 comment A colorectal cancer sample VAR_036502 commonName VAR_036502 VAR_036503 comment A breast cancer sample VAR_036503 commonName VAR_036503 VAR_036504 comment Sporadic cancers VAR_036504 commonName VAR_036504 VAR_036505 comment Sporadic cancers VAR_036505 commonName VAR_036505 VAR_036506 commonName VAR_036506 VAR_036506 disease phenotype-associated VAR_036506 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_036507 comment Sporadic cancers VAR_036507 commonName VAR_036507 VAR_036508 comment Sporadic cancers VAR_036508 commonName VAR_036508 VAR_036509 commonName VAR_036509 VAR_036509 disease phenotype-associated VAR_036509 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_036510 comment A breast cancer sample VAR_036510 commonName VAR_036510 VAR_036511 comment A colorectal cancer sample VAR_036511 commonName VAR_036511 VAR_036512 comment A colorectal cancer sample VAR_036512 commonName VAR_036512 VAR_036515 comment A colorectal cancer sample VAR_036515 commonName VAR_036515 VAR_036516 comment A breast cancer sample VAR_036516 commonName VAR_036516 VAR_036517 comment A colorectal cancer sample VAR_036517 commonName VAR_036517 VAR_036520 comment A colorectal cancer sample VAR_036520 commonName VAR_036520 VAR_036521 comment A breast cancer sample VAR_036521 commonName VAR_036521 VAR_036522 comment A breast cancer sample VAR_036522 commonName VAR_036522 VAR_036523 comment A breast cancer sample VAR_036523 commonName VAR_036523 VAR_036524 comment A breast cancer sample VAR_036524 commonName VAR_036524 VAR_036528 comment A colorectal cancer sample VAR_036528 commonName VAR_036528 VAR_036529 comment A colorectal cancer sample VAR_036529 commonName VAR_036529 VAR_036530 comment A breast cancer sample VAR_036530 commonName VAR_036530 VAR_036531 comment A breast cancer sample VAR_036531 commonName VAR_036531 VAR_036532 comment A colorectal cancer sample VAR_036532 commonName VAR_036532 VAR_036533 comment A breast cancer sample VAR_036533 commonName VAR_036533 VAR_036534 comment A breast cancer sample VAR_036534 commonName VAR_036534 VAR_036536 comment A breast cancer sample VAR_036536 commonName VAR_036536 VAR_036537 comment A breast cancer sample VAR_036537 commonName VAR_036537 VAR_036538 comment A colorectal cancer sample VAR_036538 commonName VAR_036538 VAR_036539 comment A breast cancer sample VAR_036539 commonName VAR_036539 VAR_036541 comment A colorectal cancer sample VAR_036541 commonName VAR_036541 VAR_036542 comment A colorectal cancer sample VAR_036542 commonName VAR_036542 VAR_036543 comment A breast cancer sample VAR_036543 commonName VAR_036543 VAR_036544 comment A colorectal cancer sample VAR_036544 commonName VAR_036544 VAR_036545 comment A breast cancer sample VAR_036545 commonName VAR_036545 VAR_036546 comment A breast cancer sample HbVar.680 phenoCommon Hemoglobin variant VAR_036546 commonName VAR_036546 VAR_036548 comment A colorectal cancer sample VAR_036548 commonName VAR_036548 VAR_036549 comment A breast cancer sample VAR_036549 commonName VAR_036549 VAR_036550 comment A colorectal cancer sample VAR_036550 commonName VAR_036550 VAR_036551 comment A breast cancer sample VAR_036551 commonName VAR_036551 VAR_036552 comment A breast cancer sample VAR_036552 commonName VAR_036552 VAR_036553 comment A colorectal cancer sample VAR_036553 commonName VAR_036553 VAR_036555 comment Breast cancer VAR_036555 commonName VAR_036555 VAR_036556 comment A colorectal cancer sample VAR_036556 commonName VAR_036556 VAR_036557 comment A colorectal cancer sample VAR_036557 commonName VAR_036557 VAR_036559 comment A breast cancer sample VAR_036559 commonName VAR_036559 VAR_036560 comment A colorectal cancer sample VAR_036560 commonName VAR_036560 VAR_036561 comment A breast cancer sample VAR_036561 commonName VAR_036561 VAR_036562 comment A breast cancer sample VAR_036562 commonName VAR_036562 VAR_036563 comment A breast cancer sample VAR_036563 commonName VAR_036563 VAR_036564 comment A breast cancer sample VAR_036564 commonName VAR_036564 VAR_036565 comment A colorectal cancer sample VAR_036565 commonName VAR_036565 VAR_036566 comment A breast cancer sample VAR_036566 commonName VAR_036566 VAR_036567 comment A breast cancer sample VAR_036567 commonName VAR_036567 VAR_036568 comment A breast cancer sample VAR_036568 commonName VAR_036568 VAR_036569 comment A breast cancer sample VAR_036569 commonName VAR_036569 VAR_036570 comment A breast cancer sample VAR_036570 commonName VAR_036570 VAR_036571 comment A breast cancer sample VAR_036571 commonName VAR_036571 VAR_036572 comment A breast cancer sample VAR_036572 commonName VAR_036572 VAR_036573 comment A breast cancer sample VAR_036573 commonName VAR_036573 VAR_036574 comment A breast cancer sample VAR_036574 commonName VAR_036574 VAR_036575 comment A breast cancer sample VAR_036575 commonName VAR_036575 VAR_036576 comment A colorectal cancer sample VAR_036576 commonName VAR_036576 VAR_036577 comment A breast cancer sample VAR_036577 commonName VAR_036577 VAR_036578 comment A colorectal cancer sample VAR_036578 commonName VAR_036578 VAR_036579 comment A breast cancer sample VAR_036579 commonName VAR_036579 VAR_036580 comment A colorectal cancer sample VAR_036580 commonName VAR_036580 VAR_036581 comment A breast cancer sample VAR_036581 commonName VAR_036581 VAR_036582 comment A breast cancer sample VAR_036582 commonName VAR_036582 VAR_036583 comment A breast cancer sample VAR_036583 commonName VAR_036583 VAR_036584 comment A breast cancer sample VAR_036584 commonName VAR_036584 VAR_036585 comment A breast cancer sample VAR_036585 commonName VAR_036585 VAR_036586 comment A breast cancer sample VAR_036586 commonName VAR_036586 VAR_036587 comment A colorectal cancer sample VAR_036587 commonName VAR_036587 VAR_036588 comment A breast cancer sample VAR_036588 commonName VAR_036588 VAR_036589 comment A breast cancer sample VAR_036589 commonName VAR_036589 VAR_036590 comment A colorectal cancer sample VAR_036590 commonName VAR_036590 VAR_036591 comment A colorectal cancer sample VAR_036591 commonName VAR_036591 VAR_036592 comment A breast cancer sample VAR_036592 commonName VAR_036592 VAR_036593 comment A breast cancer sample VAR_036593 commonName VAR_036593 VAR_036594 comment A breast cancer sample VAR_036594 commonName VAR_036594 VAR_036595 comment A colorectal cancer sample VAR_036595 commonName VAR_036595 VAR_036596 comment A breast cancer sample VAR_036596 commonName VAR_036596 VAR_036597 comment A breast cancer sample VAR_036597 commonName VAR_036597 VAR_036598 comment A colorectal cancer sample VAR_036598 commonName VAR_036598 VAR_036599 comment A breast cancer sample VAR_036599 commonName VAR_036599 VAR_036600 comment A colorectal cancer sample VAR_036600 commonName VAR_036600 VAR_036601 comment A breast cancer sample VAR_036601 commonName VAR_036601 VAR_036602 comment A colorectal cancer sample VAR_036602 commonName VAR_036602 VAR_036603 comment A breast cancer sample VAR_036603 commonName VAR_036603 VAR_036604 comment A breast cancer sample VAR_036604 commonName VAR_036604 VAR_036605 comment A breast cancer sample VAR_036605 commonName VAR_036605 VAR_036606 comment A breast cancer sample VAR_036606 commonName VAR_036606 VAR_036607 comment A breast cancer sample VAR_036607 commonName VAR_036607 VAR_036608 comment A breast cancer sample VAR_036608 commonName VAR_036608 VAR_036609 comment A breast cancer sample VAR_036609 commonName VAR_036609 VAR_036610 comment A breast cancer sample VAR_036610 commonName VAR_036610 VAR_036611 comment A breast cancer sample VAR_036611 commonName VAR_036611 VAR_036612 comment A breast cancer sample VAR_036612 commonName VAR_036612 VAR_036613 comment A breast cancer sample VAR_036613 commonName VAR_036613 VAR_036614 comment A colorectal cancer sample VAR_036614 commonName VAR_036614 VAR_036615 comment A colorectal cancer sample VAR_036615 commonName VAR_036615 VAR_036616 comment A breast cancer sample VAR_036616 commonName VAR_036616 VAR_036617 commonName VAR_036617 VAR_036617 disease not phenotype-associated VAR_036618 commonName VAR_036618 VAR_036618 disease not phenotype-associated VAR_036619 commonName VAR_036619 VAR_036619 disease not phenotype-associated VAR_036620 commonName VAR_036620 VAR_036620 disease not phenotype-associated VAR_036621 commonName VAR_036621 VAR_036621 disease not phenotype-associated VAR_036622 commonName VAR_036622 VAR_036622 disease not phenotype-associated VAR_036623 commonName VAR_036623 VAR_036623 disease not phenotype-associated VAR_036624 commonName VAR_036624 VAR_036624 disease not phenotype-associated VAR_036626 commonName VAR_036626 VAR_036626 disease phenotype-associated VAR_036626 phenoCommon Meckel syndrome type 10 (MKS10) [MIM:614175] VAR_036627 commonName VAR_036627 VAR_036627 disease not phenotype-associated VAR_036628 commonName VAR_036628 VAR_036628 disease not phenotype-associated VAR_036629 commonName VAR_036629 VAR_036629 disease not phenotype-associated VAR_036630 commonName VAR_036630 VAR_036630 disease not phenotype-associated VAR_036631 commonName VAR_036631 VAR_036631 disease not phenotype-associated VAR_036632 commonName VAR_036632 VAR_036632 disease not phenotype-associated VAR_036633 commonName VAR_036633 VAR_036633 disease not phenotype-associated VAR_036634 commonName VAR_036634 VAR_036634 disease not phenotype-associated VAR_036635 commonName VAR_036635 VAR_036635 disease not phenotype-associated VAR_036636 commonName VAR_036636 VAR_036636 disease phenotype-associated VAR_036636 phenoCommon Premature ovarian failure type 5 (POF5) [MIM:611548] VAR_036637 commonName VAR_036637 VAR_036637 disease not phenotype-associated VAR_036638 commonName VAR_036638 VAR_036638 disease not phenotype-associated VAR_036639 commonName VAR_036639 VAR_036639 disease not phenotype-associated VAR_036640 commonName VAR_036640 VAR_036640 disease not phenotype-associated VAR_036641 comment A colorectal cancer sample VAR_036641 commonName VAR_036641 VAR_036642 commonName VAR_036642 VAR_036642 disease not phenotype-associated VAR_036643 commonName VAR_036643 VAR_036643 disease not phenotype-associated VAR_036644 commonName VAR_036644 VAR_036644 disease not phenotype-associated VAR_036645 commonName VAR_036645 VAR_036645 disease not phenotype-associated VAR_036646 commonName VAR_036646 VAR_036646 disease phenotype-associated VAR_036646 phenoCommon Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002] VAR_036647 commonName VAR_036647 VAR_036647 disease phenotype-associated VAR_036647 phenoCommon Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002] VAR_036648 commonName VAR_036648 VAR_036648 disease phenotype-associated VAR_036648 phenoCommon Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002] VAR_036649 commonName VAR_036649 VAR_036649 disease phenotype-associated VAR_036649 phenoCommon Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002] VAR_036650 commonName VAR_036650 VAR_036650 disease phenotype-associated VAR_036650 phenoCommon Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002] VAR_036651 commonName VAR_036651 VAR_036651 disease not phenotype-associated VAR_036652 commonName VAR_036652 VAR_036652 disease not phenotype-associated VAR_036653 commonName VAR_036653 VAR_036653 disease not phenotype-associated VAR_036654 commonName VAR_036654 VAR_036654 disease not phenotype-associated VAR_036655 commonName VAR_036655 VAR_036655 disease not phenotype-associated VAR_036656 commonName VAR_036656 VAR_036656 disease not phenotype-associated VAR_036657 commonName VAR_036657 VAR_036657 disease not phenotype-associated VAR_036658 commonName VAR_036658 VAR_036658 disease not phenotype-associated VAR_036659 commonName VAR_036659 VAR_036659 disease not phenotype-associated VAR_036660 commonName VAR_036660 VAR_036660 disease phenotype-associated VAR_036660 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_036661 commonName VAR_036661 VAR_036661 disease phenotype-associated VAR_036661 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_036662 commonName VAR_036662 VAR_036662 disease phenotype-associated VAR_036662 phenoCommon Progressive familial heart block type 1A (PFHB1A) [MIM:113900] VAR_036663 commonName VAR_036663 VAR_036663 disease not phenotype-associated VAR_036664 commonName VAR_036664 VAR_036664 disease phenotype-associated VAR_036664 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_036665 commonName VAR_036665 VAR_036665 disease phenotype-associated VAR_036665 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_036666 commonName VAR_036666 VAR_036666 disease phenotype-associated VAR_036666 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_036666 phenoCommon Sudden infant death syndrome (SIDS) [MIM:272120] VAR_036667 commonName VAR_036667 VAR_036667 disease phenotype-associated VAR_036667 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_036668 commonName VAR_036668 VAR_036668 disease phenotype-associated VAR_036668 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_036669 commonName VAR_036669 VAR_036669 disease phenotype-associated VAR_036669 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_036670 commonName VAR_036670 VAR_036670 disease not phenotype-associated VAR_036671 commonName VAR_036671 VAR_036671 disease not phenotype-associated VAR_036672 commonName VAR_036672 VAR_036672 disease not phenotype-associated VAR_036673 commonName VAR_036673 VAR_036673 disease not phenotype-associated VAR_036674 commonName VAR_036674 VAR_036675 commonName VAR_036675 VAR_036675 disease phenotype-associated VAR_036675 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_036676 commonName VAR_036676 VAR_036684 commonName VAR_036684 VAR_036684 disease not phenotype-associated VAR_036685 commonName VAR_036685 VAR_036685 disease not phenotype-associated VAR_036689 commonName VAR_036689 VAR_036689 disease not phenotype-associated VAR_036690 commonName VAR_036690 VAR_036690 disease not phenotype-associated VAR_036691 commonName VAR_036691 VAR_036691 disease not phenotype-associated VAR_036692 commonName VAR_036692 VAR_036692 disease not phenotype-associated VAR_036693 commonName VAR_036693 VAR_036693 disease not phenotype-associated VAR_036694 commonName VAR_036694 VAR_036694 disease not phenotype-associated VAR_036695 commonName VAR_036695 VAR_036695 disease not phenotype-associated VAR_036696 commonName VAR_036696 VAR_036696 disease not phenotype-associated VAR_036697 commonName VAR_036697 VAR_036697 disease not phenotype-associated VAR_036699 commonName VAR_036699 VAR_036699 disease not phenotype-associated VAR_036700 commonName VAR_036700 VAR_036700 disease not phenotype-associated VAR_036702 comment Ovarian cancer VAR_036702 commonName VAR_036702 VAR_036703 comment Ovarian cancer VAR_036703 commonName VAR_036703 VAR_036707 commonName VAR_036707 VAR_036707 disease not phenotype-associated VAR_036708 commonName VAR_036708 VAR_036708 disease not phenotype-associated VAR_036709 commonName VAR_036709 VAR_036709 disease not phenotype-associated VAR_036710 commonName VAR_036710 VAR_036710 disease not phenotype-associated VAR_036712 commonName VAR_036712 VAR_036712 disease not phenotype-associated VAR_036714 commonName VAR_036714 VAR_036714 disease not phenotype-associated VAR_036715 commonName VAR_036715 VAR_036715 disease not phenotype-associated VAR_036716 commonName VAR_036716 VAR_036716 disease not phenotype-associated VAR_036717 commonName VAR_036717 VAR_036717 disease not phenotype-associated VAR_036718 commonName VAR_036718 VAR_036718 disease not phenotype-associated VAR_036719 commonName VAR_036719 VAR_036719 disease not phenotype-associated VAR_036720 commonName VAR_036720 VAR_036720 disease not phenotype-associated VAR_036721 commonName VAR_036721 VAR_036721 disease phenotype-associated VAR_036721 phenoCommon Hypouricemia renal type 1 (RHUC1) [MIM:220150] VAR_036722 commonName VAR_036722 VAR_036722 disease not phenotype-associated VAR_036723 commonName VAR_036723 VAR_036723 disease phenotype-associated VAR_036723 phenoCommon Hypouricemia renal type 1 (RHUC1) [MIM:220150] VAR_036724 commonName VAR_036724 VAR_036724 disease phenotype-associated VAR_036724 phenoCommon Hypouricemia renal type 1 (RHUC1) [MIM:220150] VAR_036725 commonName VAR_036725 VAR_036725 disease phenotype-associated VAR_036725 phenoCommon Hypouricemia renal type 1 (RHUC1) [MIM:220150] VAR_036726 commonName VAR_036726 VAR_036726 disease not phenotype-associated VAR_036727 commonName VAR_036727 VAR_036728 commonName VAR_036728 VAR_036729 commonName VAR_036729 VAR_036730 commonName VAR_036730 VAR_036730 disease phenotype-associated VAR_036730 phenoCommon Hypouricemia renal type 1 (RHUC1) [MIM:220150] VAR_036731 commonName VAR_036731 VAR_036732 commonName VAR_036732 VAR_036732 disease not phenotype-associated VAR_036738 commonName VAR_036738 VAR_036738 disease not phenotype-associated VAR_036739 commonName VAR_036739 VAR_036739 disease not phenotype-associated VAR_036740 commonName VAR_036740 VAR_036740 disease not phenotype-associated VAR_036747 commonName VAR_036747 VAR_036747 disease not phenotype-associated VAR_036748 commonName VAR_036748 VAR_036748 disease not phenotype-associated VAR_036750 commonName VAR_036750 VAR_036750 disease not phenotype-associated VAR_036751 commonName VAR_036751 VAR_036751 disease not phenotype-associated VAR_036752 commonName VAR_036752 VAR_036752 disease not phenotype-associated VAR_036753 comment A breast cancer sample VAR_036753 commonName VAR_036753 VAR_036754 commonName VAR_036754 VAR_036754 disease not phenotype-associated VAR_036755 commonName VAR_036755 VAR_036755 disease not phenotype-associated VAR_036756 commonName VAR_036756 VAR_036756 disease not phenotype-associated VAR_036757 commonName VAR_036757 VAR_036757 disease not phenotype-associated VAR_036758 commonName VAR_036758 VAR_036758 disease not phenotype-associated VAR_036759 commonName VAR_036759 VAR_036759 disease not phenotype-associated VAR_036760 commonName VAR_036760 VAR_036760 disease not phenotype-associated VAR_036761 commonName VAR_036761 VAR_036761 disease not phenotype-associated VAR_036762 commonName VAR_036762 VAR_036762 disease not phenotype-associated VAR_036763 commonName VAR_036763 VAR_036763 disease not phenotype-associated VAR_036765 commonName VAR_036765 VAR_036765 disease not phenotype-associated VAR_036766 commonName VAR_036766 VAR_036766 disease not phenotype-associated VAR_036769 commonName VAR_036769 VAR_036769 disease not phenotype-associated VAR_036770 commonName VAR_036770 VAR_036770 disease not phenotype-associated VAR_036771 commonName VAR_036771 VAR_036771 disease not phenotype-associated VAR_036772 commonName VAR_036772 VAR_036772 disease not phenotype-associated VAR_036773 commonName VAR_036773 VAR_036773 disease not phenotype-associated VAR_036774 commonName VAR_036774 VAR_036774 disease not phenotype-associated VAR_036776 commonName VAR_036776 VAR_036776 disease not phenotype-associated VAR_036777 commonName VAR_036777 VAR_036777 disease not phenotype-associated VAR_036778 comment A colorectal cancer sample VAR_036778 commonName VAR_036778 VAR_036779 commonName VAR_036779 VAR_036779 disease not phenotype-associated VAR_036780 commonName VAR_036780 VAR_036780 disease not phenotype-associated VAR_036781 commonName VAR_036781 VAR_036781 disease not phenotype-associated VAR_036782 commonName VAR_036782 VAR_036782 disease not phenotype-associated VAR_036783 commonName VAR_036783 VAR_036783 disease not phenotype-associated VAR_036784 commonName VAR_036784 VAR_036784 disease not phenotype-associated VAR_036785 commonName VAR_036785 VAR_036785 disease not phenotype-associated VAR_036786 commonName VAR_036786 VAR_036786 disease not phenotype-associated VAR_036787 commonName VAR_036787 VAR_036787 disease not phenotype-associated VAR_036788 commonName VAR_036788 VAR_036788 disease not phenotype-associated VAR_036789 commonName VAR_036789 VAR_036789 disease not phenotype-associated VAR_036790 commonName VAR_036790 VAR_036790 disease not phenotype-associated VAR_036791 commonName VAR_036791 VAR_036791 disease not phenotype-associated VAR_036794 commonName VAR_036794 VAR_036794 disease not phenotype-associated VAR_036795 commonName VAR_036795 VAR_036795 disease not phenotype-associated VAR_036796 commonName VAR_036796 VAR_036796 disease not phenotype-associated VAR_036797 commonName VAR_036797 VAR_036797 disease not phenotype-associated VAR_036798 commonName VAR_036798 VAR_036798 disease not phenotype-associated VAR_036799 commonName VAR_036799 VAR_036799 disease not phenotype-associated VAR_036801 commonName VAR_036801 VAR_036801 disease not phenotype-associated VAR_036802 commonName VAR_036802 VAR_036802 disease not phenotype-associated VAR_036803 commonName VAR_036803 VAR_036803 disease not phenotype-associated VAR_036804 commonName VAR_036804 VAR_036804 disease not phenotype-associated VAR_036805 commonName VAR_036805 VAR_036805 disease phenotype-associated VAR_036805 phenoCommon Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200] VAR_036806 commonName VAR_036806 VAR_036806 disease phenotype-associated VAR_036806 phenoCommon Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200] VAR_036807 commonName VAR_036807 VAR_036807 disease phenotype-associated VAR_036807 phenoCommon Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200] VAR_036808 commonName VAR_036808 VAR_036808 disease phenotype-associated VAR_036808 phenoCommon Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200] VAR_036810 commonName VAR_036810 VAR_036810 disease phenotype-associated VAR_036810 phenoCommon Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200] VAR_036811 commonName VAR_036811 VAR_036811 disease not phenotype-associated VAR_036812 commonName VAR_036812 VAR_036812 disease not phenotype-associated VAR_036813 commonName VAR_036813 VAR_036813 disease not phenotype-associated VAR_036814 commonName VAR_036814 VAR_036814 disease not phenotype-associated VAR_036815 commonName VAR_036815 VAR_036815 disease not phenotype-associated VAR_036816 commonName VAR_036816 VAR_036816 disease not phenotype-associated VAR_036817 commonName VAR_036817 VAR_036817 disease not phenotype-associated VAR_036818 commonName VAR_036818 VAR_036818 disease not phenotype-associated VAR_036819 commonName VAR_036819 VAR_036819 disease not phenotype-associated VAR_036820 commonName VAR_036820 VAR_036820 disease not phenotype-associated VAR_036821 commonName VAR_036821 VAR_036821 disease not phenotype-associated VAR_036823 commonName VAR_036823 VAR_036823 disease not phenotype-associated VAR_036824 commonName VAR_036824 VAR_036824 disease not phenotype-associated VAR_036825 commonName VAR_036825 VAR_036825 disease not phenotype-associated VAR_036826 commonName VAR_036826 VAR_036826 disease not phenotype-associated VAR_036827 commonName VAR_036827 VAR_036827 disease not phenotype-associated VAR_036828 commonName VAR_036828 VAR_036828 disease not phenotype-associated VAR_036829 commonName VAR_036829 VAR_036829 disease not phenotype-associated VAR_036830 commonName VAR_036830 VAR_036830 disease not phenotype-associated VAR_036831 commonName VAR_036831 VAR_036831 disease not phenotype-associated VAR_036833 commonName VAR_036833 VAR_036833 disease not phenotype-associated VAR_036834 commonName VAR_036834 VAR_036834 disease not phenotype-associated VAR_036835 commonName VAR_036835 VAR_036835 disease not phenotype-associated VAR_036836 commonName VAR_036836 VAR_036836 disease not phenotype-associated VAR_036837 commonName VAR_036837 VAR_036837 disease not phenotype-associated VAR_036838 commonName VAR_036838 VAR_036838 disease not phenotype-associated VAR_036841 commonName VAR_036841 VAR_036841 disease not phenotype-associated VAR_036842 commonName VAR_036842 VAR_036842 disease not phenotype-associated VAR_036843 commonName VAR_036843 VAR_036843 disease not phenotype-associated VAR_036844 commonName VAR_036844 VAR_036844 disease not phenotype-associated VAR_036845 commonName VAR_036845 VAR_036845 disease not phenotype-associated VAR_036846 commonName VAR_036846 VAR_036846 disease not phenotype-associated VAR_036847 commonName VAR_036847 VAR_036847 disease not phenotype-associated VAR_036848 commonName VAR_036848 VAR_036848 disease not phenotype-associated VAR_036849 commonName VAR_036849 VAR_036849 disease not phenotype-associated VAR_036852 commonName VAR_036852 VAR_036852 disease not phenotype-associated VAR_036853 commonName VAR_036853 VAR_036853 disease not phenotype-associated VAR_036854 commonName VAR_036854 VAR_036854 disease not phenotype-associated VAR_036855 commonName VAR_036855 VAR_036855 disease phenotype-associated VAR_036855 phenoCommon Pulmonary surfactant metabolism dysfunction type 2 (SMDP2) [MIM:610913] VAR_036857 commonName VAR_036857 VAR_036857 disease not phenotype-associated VAR_036858 commonName VAR_036858 VAR_036858 disease not phenotype-associated VAR_036859 commonName VAR_036859 VAR_036859 disease phenotype-associated VAR_036859 phenoCommon Deafness autosomal recessive type 24 (DFNB24) [MIM:611022] VAR_036860 commonName VAR_036860 VAR_036860 disease not phenotype-associated VAR_036861 commonName VAR_036861 VAR_036861 disease phenotype-associated VAR_036861 phenoCommon Dentin dysplasia type 2 (DTDP2) [MIM:125420] VAR_036862 commonName VAR_036862 VAR_036863 commonName VAR_036863 VAR_036863 disease phenotype-associated VAR_036863 phenoCommon Susceptibilty to aplastic anemia (AA) [MIM:609135] VAR_036864 commonName VAR_036864 VAR_036864 disease not phenotype-associated VAR_036866 commonName VAR_036866 VAR_036867 commonName VAR_036867 VAR_036868 commonName VAR_036868 VAR_036869 commonName VAR_036869 VAR_036869 disease phenotype-associated VAR_036869 phenoCommon Dyskeratosis congenita autosomal dominant type 2 (DKCA2) [MIM:613989] VAR_036870 commonName VAR_036870 VAR_036871 commonName VAR_036871 VAR_036871 disease not phenotype-associated VAR_036872 commonName VAR_036872 VAR_036872 disease not phenotype-associated VAR_036874 commonName VAR_036874 VAR_036874 disease not phenotype-associated VAR_036878 commonName VAR_036878 VAR_036878 disease not phenotype-associated VAR_036879 commonName VAR_036879 VAR_036879 disease not phenotype-associated VAR_036881 commonName VAR_036881 VAR_036881 disease not phenotype-associated VAR_036882 commonName VAR_036882 VAR_036882 disease not phenotype-associated VAR_036883 commonName VAR_036883 VAR_036883 disease not phenotype-associated VAR_036884 comment A colorectal cancer sample VAR_036884 commonName VAR_036884 VAR_036885 commonName VAR_036885 VAR_036885 disease not phenotype-associated VAR_036886 commonName VAR_036886 VAR_036886 disease not phenotype-associated VAR_036887 commonName VAR_036887 VAR_036887 disease not phenotype-associated VAR_036888 commonName VAR_036888 VAR_036888 disease not phenotype-associated VAR_036889 commonName VAR_036889 VAR_036889 disease not phenotype-associated VAR_036890 commonName VAR_036890 VAR_036890 disease not phenotype-associated VAR_036891 commonName VAR_036891 VAR_036891 disease not phenotype-associated VAR_036892 commonName VAR_036892 VAR_036892 disease not phenotype-associated VAR_036893 commonName VAR_036893 VAR_036893 disease not phenotype-associated VAR_036894 commonName VAR_036894 VAR_036894 disease not phenotype-associated VAR_036895 commonName VAR_036895 VAR_036895 disease not phenotype-associated VAR_036896 commonName VAR_036896 VAR_036896 disease not phenotype-associated VAR_036897 commonName VAR_036897 VAR_036897 disease not phenotype-associated VAR_036903 commonName VAR_036903 VAR_036903 disease not phenotype-associated VAR_036904 commonName VAR_036904 VAR_036904 disease not phenotype-associated VAR_036905 commonName VAR_036905 VAR_036905 disease not phenotype-associated VAR_036906 commonName VAR_036906 VAR_036906 disease not phenotype-associated VAR_036907 commonName VAR_036907 VAR_036907 disease not phenotype-associated VAR_036908 commonName VAR_036908 VAR_036908 disease not phenotype-associated VAR_036909 commonName VAR_036909 VAR_036909 disease not phenotype-associated VAR_036910 commonName VAR_036910 VAR_036910 disease not phenotype-associated VAR_036911 commonName VAR_036911 VAR_036911 disease not phenotype-associated VAR_036912 commonName VAR_036912 VAR_036912 disease not phenotype-associated VAR_036913 commonName VAR_036913 VAR_036913 disease not phenotype-associated VAR_036915 commonName VAR_036915 VAR_036915 disease not phenotype-associated VAR_036916 commonName VAR_036916 VAR_036916 disease not phenotype-associated VAR_036917 commonName VAR_036917 VAR_036917 disease not phenotype-associated VAR_036926 commonName VAR_036926 VAR_036926 disease not phenotype-associated VAR_036927 commonName VAR_036927 VAR_036927 disease not phenotype-associated VAR_036928 commonName VAR_036928 VAR_036928 disease not phenotype-associated VAR_036929 commonName VAR_036929 VAR_036929 disease not phenotype-associated VAR_036930 commonName VAR_036930 VAR_036930 disease not phenotype-associated VAR_036931 commonName VAR_036931 VAR_036931 disease not phenotype-associated VAR_036933 commonName VAR_036933 VAR_036933 disease not phenotype-associated VAR_036934 commonName VAR_036934 VAR_036934 disease not phenotype-associated VAR_036935 commonName VAR_036935 VAR_036935 disease not phenotype-associated VAR_036936 commonName VAR_036936 VAR_036936 disease not phenotype-associated VAR_036937 commonName VAR_036937 VAR_036937 disease not phenotype-associated VAR_036938 commonName VAR_036938 VAR_036938 disease not phenotype-associated VAR_036939 commonName VAR_036939 VAR_036939 disease not phenotype-associated VAR_036941 commonName VAR_036941 VAR_036941 disease phenotype-associated VAR_036941 phenoCommon Charcot-Marie-Tooth disease X-linked recessive type 5 (CMTX5) [MIM:311070] VAR_036942 commonName VAR_036942 VAR_036942 disease phenotype-associated VAR_036942 phenoCommon Charcot-Marie-Tooth disease X-linked recessive type 5 (CMTX5) [MIM:311070] VAR_036943 commonName VAR_036943 VAR_036943 disease phenotype-associated VAR_036943 phenoCommon ARTS syndrome (ARTS) [MIM:301835] VAR_036944 commonName VAR_036944 VAR_036944 disease phenotype-associated VAR_036944 phenoCommon ARTS syndrome (ARTS) [MIM:301835] VAR_036945 commonName VAR_036945 VAR_036945 disease not phenotype-associated VAR_036946 commonName VAR_036946 VAR_036946 disease not phenotype-associated VAR_036950 commonName VAR_036950 VAR_036950 disease not phenotype-associated VAR_036951 commonName VAR_036951 VAR_036951 disease not phenotype-associated VAR_036952 commonName VAR_036952 VAR_036952 disease not phenotype-associated VAR_036953 commonName VAR_036953 VAR_036953 disease not phenotype-associated VAR_036954 commonName VAR_036954 VAR_036954 disease not phenotype-associated VAR_036955 commonName VAR_036955 VAR_036955 disease not phenotype-associated VAR_036956 commonName VAR_036956 VAR_036956 disease not phenotype-associated VAR_036957 commonName VAR_036957 VAR_036957 disease not phenotype-associated VAR_036958 commonName VAR_036958 VAR_036958 disease not phenotype-associated VAR_036961 commonName VAR_036961 VAR_036961 disease not phenotype-associated VAR_036962 commonName VAR_036962 VAR_036962 disease not phenotype-associated VAR_036963 commonName VAR_036963 VAR_036963 disease not phenotype-associated VAR_036964 commonName VAR_036964 VAR_036964 disease not phenotype-associated VAR_036965 commonName VAR_036965 VAR_036965 disease not phenotype-associated VAR_036966 commonName VAR_036966 VAR_036966 disease not phenotype-associated VAR_036969 commonName VAR_036969 VAR_036969 disease not phenotype-associated VAR_036970 commonName VAR_036970 VAR_036970 disease not phenotype-associated VAR_036971 commonName VAR_036971 VAR_036971 disease not phenotype-associated VAR_036972 commonName VAR_036972 VAR_036972 disease not phenotype-associated VAR_036973 commonName VAR_036973 VAR_036973 disease not phenotype-associated VAR_036974 commonName VAR_036974 VAR_036974 disease phenotype-associated VAR_036974 phenoCommon Charcot-Marie-Tooth disease type 4J (CMT4J) [MIM:611228] VAR_036975 comment A breast cancer sample VAR_036975 commonName VAR_036975 VAR_036976 commonName VAR_036976 VAR_036976 disease not phenotype-associated VAR_036978 comment A breast cancer sample VAR_036978 commonName VAR_036978 VAR_036979 commonName VAR_036979 VAR_036979 disease not phenotype-associated VAR_036980 commonName VAR_036980 VAR_036980 disease not phenotype-associated VAR_036981 commonName VAR_036981 VAR_036981 disease not phenotype-associated VAR_036982 commonName VAR_036982 VAR_036982 disease not phenotype-associated VAR_036983 commonName VAR_036983 VAR_036983 disease not phenotype-associated VAR_036984 commonName VAR_036984 VAR_036984 disease not phenotype-associated VAR_036985 commonName VAR_036985 VAR_036985 disease not phenotype-associated VAR_036986 commonName VAR_036986 VAR_036986 disease not phenotype-associated VAR_036987 commonName VAR_036987 VAR_036987 disease not phenotype-associated VAR_036988 commonName VAR_036988 VAR_036988 disease not phenotype-associated VAR_036989 commonName VAR_036989 VAR_036989 disease not phenotype-associated VAR_036990 commonName VAR_036990 VAR_036990 disease not phenotype-associated VAR_036991 commonName VAR_036991 VAR_036991 disease not phenotype-associated VAR_036992 commonName VAR_036992 VAR_036992 disease not phenotype-associated VAR_036993 commonName VAR_036993 VAR_036993 disease not phenotype-associated VAR_036994 commonName VAR_036994 VAR_036994 disease not phenotype-associated VAR_036995 commonName VAR_036995 VAR_036995 disease phenotype-associated VAR_036995 phenoCommon Atrial septal defect type 4 (ASD4) [MIM:611363] VAR_036996 commonName VAR_036996 VAR_036996 disease phenotype-associated VAR_036996 phenoCommon Lethal congenital contracture syndrome type 3 (LCCS3) [MIM:611369] VAR_036997 commonName VAR_036997 VAR_036997 disease phenotype-associated VAR_036997 phenoCommon Brachydactyly type B2 (BDB2) [MIM:611377] VAR_036998 commonName VAR_036998 VAR_036998 disease phenotype-associated VAR_036998 phenoCommon Brachydactyly type B2 (BDB2) [MIM:611377] VAR_036999 commonName VAR_036999 VAR_036999 disease phenotype-associated VAR_036999 phenoCommon Brachydactyly type B2 (BDB2) [MIM:611377] VAR_037000 commonName VAR_037000 VAR_037000 disease phenotype-associated VAR_037000 phenoCommon Brachydactyly type B2 (BDB2) [MIM:611377] VAR_037001 commonName VAR_037001 VAR_037001 disease phenotype-associated VAR_037001 phenoCommon Brachydactyly type B2 (BDB2) [MIM:611377] VAR_037002 comment A breast cancer sample VAR_037002 commonName VAR_037002 VAR_037004 commonName VAR_037004 VAR_037004 disease not phenotype-associated VAR_037007 commonName VAR_037007 VAR_037007 disease phenotype-associated VAR_037007 phenoCommon Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050] VAR_037009 commonName VAR_037009 VAR_037009 disease not phenotype-associated VAR_037010 commonName VAR_037010 VAR_037010 disease not phenotype-associated VAR_037011 commonName VAR_037011 VAR_037011 disease not phenotype-associated VAR_037012 commonName VAR_037012 VAR_037012 disease not phenotype-associated VAR_037013 commonName VAR_037013 VAR_037013 disease phenotype-associated VAR_037013 phenoCommon Donnai-Barrow syndrome (DBS) [MIM:222448] VAR_037014 commonName VAR_037014 VAR_037014 disease not phenotype-associated VAR_037015 commonName VAR_037015 VAR_037015 disease phenotype-associated VAR_037015 phenoCommon Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] VAR_037016 commonName VAR_037016 VAR_037016 disease phenotype-associated VAR_037016 phenoCommon Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] VAR_037017 commonName VAR_037017 VAR_037017 disease phenotype-associated VAR_037017 phenoCommon Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] VAR_037018 commonName VAR_037018 VAR_037018 disease phenotype-associated VAR_037018 phenoCommon Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] VAR_037019 commonName VAR_037019 VAR_037019 disease phenotype-associated VAR_037019 phenoCommon Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] VAR_037020 commonName VAR_037020 VAR_037020 disease phenotype-associated VAR_037020 phenoCommon Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] VAR_037021 commonName VAR_037021 VAR_037021 disease phenotype-associated VAR_037021 phenoCommon Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] VAR_037022 commonName VAR_037022 VAR_037022 disease phenotype-associated VAR_037022 phenoCommon Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] VAR_037023 commonName VAR_037023 VAR_037023 disease phenotype-associated VAR_037023 phenoCommon Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] VAR_037024 commonName VAR_037024 VAR_037024 disease phenotype-associated VAR_037024 phenoCommon Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] VAR_037025 commonName VAR_037025 VAR_037025 disease phenotype-associated VAR_037025 phenoCommon Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] VAR_037026 commonName VAR_037026 VAR_037026 disease phenotype-associated VAR_037026 phenoCommon Retinitis pigmentosa type 37 (RP37) [MIM:611131] VAR_037027 commonName VAR_037027 VAR_037027 disease not phenotype-associated VAR_037028 commonName VAR_037028 VAR_037028 disease not phenotype-associated VAR_037029 commonName VAR_037029 VAR_037029 disease not phenotype-associated VAR_037030 commonName VAR_037030 VAR_037030 disease not phenotype-associated VAR_037031 commonName VAR_037031 VAR_037031 disease not phenotype-associated VAR_037032 commonName VAR_037032 VAR_037032 disease not phenotype-associated VAR_037033 commonName VAR_037033 VAR_037033 disease not phenotype-associated VAR_037034 commonName VAR_037034 VAR_037034 disease not phenotype-associated VAR_037035 commonName VAR_037035 VAR_037035 disease not phenotype-associated VAR_037036 commonName VAR_037036 VAR_037036 disease not phenotype-associated VAR_037038 commonName VAR_037038 VAR_037038 disease not phenotype-associated VAR_037039 commonName VAR_037039 VAR_037039 disease not phenotype-associated VAR_037040 commonName VAR_037040 VAR_037040 disease not phenotype-associated VAR_037041 commonName VAR_037041 VAR_037041 disease not phenotype-associated VAR_037042 commonName VAR_037042 VAR_037042 disease not phenotype-associated VAR_037043 commonName VAR_037043 VAR_037043 disease not phenotype-associated VAR_037044 commonName VAR_037044 VAR_037044 disease not phenotype-associated VAR_037045 commonName VAR_037045 VAR_037045 disease not phenotype-associated VAR_037046 commonName VAR_037046 VAR_037046 disease not phenotype-associated VAR_037047 commonName VAR_037047 VAR_037047 disease not phenotype-associated VAR_037048 commonName VAR_037048 VAR_037048 disease not phenotype-associated VAR_037049 commonName VAR_037049 VAR_037049 disease not phenotype-associated VAR_037050 commonName VAR_037050 VAR_037050 disease not phenotype-associated VAR_037051 commonName VAR_037051 VAR_037051 disease not phenotype-associated VAR_037052 commonName VAR_037052 VAR_037052 disease not phenotype-associated VAR_037053 commonName VAR_037053 VAR_037053 disease not phenotype-associated VAR_037054 commonName VAR_037054 VAR_037054 disease not phenotype-associated VAR_037055 commonName VAR_037055 VAR_037055 disease not phenotype-associated VAR_037056 commonName VAR_037056 VAR_037056 disease not phenotype-associated VAR_037057 commonName VAR_037057 VAR_037057 disease not phenotype-associated VAR_037058 commonName VAR_037058 VAR_037058 disease not phenotype-associated VAR_037059 commonName VAR_037059 VAR_037059 disease not phenotype-associated VAR_037060 commonName VAR_037060 VAR_037060 disease not phenotype-associated VAR_037061 commonName VAR_037061 VAR_037061 disease not phenotype-associated VAR_037062 commonName VAR_037062 VAR_037062 disease not phenotype-associated VAR_037063 commonName VAR_037063 VAR_037063 disease not phenotype-associated VAR_037064 commonName VAR_037064 VAR_037064 disease not phenotype-associated VAR_037065 commonName VAR_037065 VAR_037065 disease not phenotype-associated VAR_037066 commonName VAR_037066 VAR_037066 disease not phenotype-associated VAR_037067 commonName VAR_037067 VAR_037067 disease not phenotype-associated VAR_037075 commonName VAR_037075 VAR_037075 disease not phenotype-associated VAR_037076 commonName VAR_037076 VAR_037076 disease not phenotype-associated VAR_037077 commonName VAR_037077 VAR_037077 disease not phenotype-associated VAR_037078 commonName VAR_037078 VAR_037078 disease not phenotype-associated VAR_037079 commonName VAR_037079 VAR_037079 disease not phenotype-associated VAR_037080 commonName VAR_037080 VAR_037080 disease not phenotype-associated VAR_037081 commonName VAR_037081 VAR_037081 disease not phenotype-associated VAR_037082 commonName VAR_037082 VAR_037082 disease not phenotype-associated VAR_037083 commonName VAR_037083 VAR_037083 disease phenotype-associated VAR_037083 phenoCommon Pachyonychia congenita type 2 (PC2) [MIM:167210] VAR_037084 commonName VAR_037084 VAR_037084 disease not phenotype-associated VAR_037085 commonName VAR_037085 VAR_037085 disease not phenotype-associated VAR_037087 commonName VAR_037087 VAR_037087 disease not phenotype-associated VAR_037088 commonName VAR_037088 VAR_037088 disease not phenotype-associated VAR_037089 commonName VAR_037089 VAR_037089 disease not phenotype-associated VAR_037090 commonName VAR_037090 VAR_037090 disease not phenotype-associated VAR_037091 commonName VAR_037091 VAR_037091 disease not phenotype-associated VAR_037092 commonName VAR_037092 VAR_037092 disease not phenotype-associated VAR_037093 commonName VAR_037093 VAR_037093 disease not phenotype-associated VAR_037094 commonName VAR_037094 VAR_037094 disease not phenotype-associated VAR_037095 commonName VAR_037095 VAR_037095 disease not phenotype-associated VAR_037096 commonName VAR_037096 VAR_037096 disease not phenotype-associated VAR_037097 commonName VAR_037097 VAR_037097 disease not phenotype-associated VAR_037098 commonName VAR_037098 VAR_037098 disease not phenotype-associated VAR_037099 commonName VAR_037099 VAR_037099 disease not phenotype-associated VAR_037100 commonName VAR_037100 VAR_037100 disease phenotype-associated VAR_037100 phenoCommon Myokymia isolated type 1 (MK1) [MIM:160120] VAR_037101 commonName VAR_037101 VAR_037101 disease phenotype-associated VAR_037101 phenoCommon Episodic ataxia type 1 (EA1) [MIM:160120] VAR_037102 commonName VAR_037102 VAR_037102 disease phenotype-associated VAR_037102 phenoCommon Myokymia isolated type 1 (MK1) [MIM:160120] VAR_037103 commonName VAR_037103 VAR_037103 disease phenotype-associated VAR_037103 phenoCommon Myokymia isolated type 1 (MK1) [MIM:160120] VAR_037104 commonName VAR_037104 VAR_037104 disease phenotype-associated VAR_037104 phenoCommon Periodic paralysis normokalemic (NKPP) [MIM:170500] VAR_037105 commonName VAR_037105 VAR_037105 disease phenotype-associated VAR_037105 phenoCommon Periodic paralysis normokalemic (NKPP) [MIM:170500] VAR_037106 commonName VAR_037106 VAR_037106 disease phenotype-associated VAR_037106 phenoCommon Periodic paralysis normokalemic (NKPP) [MIM:170500] VAR_037107 commonName VAR_037107 VAR_037107 disease phenotype-associated VAR_037107 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] VAR_037108 commonName VAR_037108 VAR_037108 disease not phenotype-associated VAR_037109 commonName VAR_037109 VAR_037109 disease not phenotype-associated VAR_037110 commonName VAR_037110 VAR_037110 disease not phenotype-associated VAR_037111 commonName VAR_037111 VAR_037111 disease not phenotype-associated VAR_037112 commonName VAR_037112 VAR_037112 disease not phenotype-associated VAR_037113 commonName VAR_037113 VAR_037113 disease not phenotype-associated VAR_037114 commonName VAR_037114 VAR_037114 disease not phenotype-associated VAR_037115 commonName VAR_037115 VAR_037115 disease not phenotype-associated VAR_037116 commonName VAR_037116 VAR_037116 disease not phenotype-associated VAR_037117 commonName VAR_037117 VAR_037117 disease not phenotype-associated VAR_037118 commonName VAR_037118 VAR_037118 disease not phenotype-associated VAR_037119 commonName VAR_037119 VAR_037119 disease not phenotype-associated VAR_037120 commonName VAR_037120 VAR_037120 disease not phenotype-associated VAR_037121 commonName VAR_037121 VAR_037121 disease not phenotype-associated VAR_037122 commonName VAR_037122 VAR_037122 disease not phenotype-associated VAR_037123 commonName VAR_037123 VAR_037123 disease not phenotype-associated VAR_037124 commonName VAR_037124 VAR_037124 disease not phenotype-associated VAR_037125 commonName VAR_037125 VAR_037125 disease not phenotype-associated VAR_037126 commonName VAR_037126 VAR_037126 disease not phenotype-associated VAR_037127 commonName VAR_037127 VAR_037127 disease not phenotype-associated VAR_037128 commonName VAR_037128 VAR_037128 disease not phenotype-associated VAR_037129 commonName VAR_037129 VAR_037129 disease not phenotype-associated VAR_037130 commonName VAR_037130 VAR_037130 disease not phenotype-associated VAR_037131 commonName VAR_037131 VAR_037131 disease not phenotype-associated VAR_037132 commonName VAR_037132 VAR_037132 disease not phenotype-associated VAR_037133 commonName VAR_037133 VAR_037133 disease not phenotype-associated VAR_037136 commonName VAR_037136 VAR_037136 disease not phenotype-associated VAR_037137 commonName VAR_037137 VAR_037137 disease not phenotype-associated VAR_037138 commonName VAR_037138 VAR_037138 disease not phenotype-associated VAR_037139 commonName VAR_037139 VAR_037139 disease not phenotype-associated VAR_037140 commonName VAR_037140 VAR_037140 disease phenotype-associated VAR_037140 phenoCommon Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300] VAR_037141 commonName VAR_037141 VAR_037141 disease not phenotype-associated VAR_037142 commonName VAR_037142 VAR_037142 disease not phenotype-associated VAR_037145 commonName VAR_037145 VAR_037145 disease not phenotype-associated VAR_037146 commonName VAR_037146 VAR_037146 disease not phenotype-associated VAR_037147 commonName VAR_037147 VAR_037147 disease not phenotype-associated VAR_037148 commonName VAR_037148 VAR_037148 disease not phenotype-associated VAR_037149 commonName VAR_037149 VAR_037149 disease not phenotype-associated VAR_037151 commonName VAR_037151 VAR_037151 disease not phenotype-associated VAR_037152 commonName VAR_037152 VAR_037152 disease not phenotype-associated VAR_037153 commonName VAR_037153 VAR_037153 disease not phenotype-associated VAR_037154 commonName VAR_037154 VAR_037154 disease not phenotype-associated VAR_037155 commonName VAR_037155 VAR_037155 disease not phenotype-associated VAR_037156 commonName VAR_037156 VAR_037156 disease not phenotype-associated VAR_037162 commonName VAR_037162 VAR_037162 disease not phenotype-associated VAR_037163 commonName VAR_037163 VAR_037163 disease not phenotype-associated VAR_037164 commonName VAR_037164 VAR_037164 disease not phenotype-associated VAR_037165 commonName VAR_037165 VAR_037165 disease not phenotype-associated VAR_037167 commonName VAR_037167 VAR_037167 disease not phenotype-associated VAR_037168 commonName VAR_037168 VAR_037168 disease phenotype-associated VAR_037168 phenoCommon Microphthalmia syndromic type 9 (MCOPS9) [MIM:601186] VAR_037169 commonName VAR_037169 VAR_037169 disease phenotype-associated VAR_037169 phenoCommon Microphthalmia syndromic type 9 (MCOPS9) [MIM:601186] VAR_037170 commonName VAR_037170 VAR_037170 disease phenotype-associated VAR_037170 phenoCommon Microphthalmia syndromic type 9 (MCOPS9) [MIM:601186] VAR_037171 commonName VAR_037171 VAR_037171 disease not phenotype-associated VAR_037172 commonName VAR_037172 VAR_037172 disease not phenotype-associated VAR_037173 commonName VAR_037173 VAR_037173 disease not phenotype-associated VAR_037176 commonName VAR_037176 VAR_037176 disease not phenotype-associated VAR_037177 commonName VAR_037177 VAR_037177 disease phenotype-associated VAR_037177 phenoCommon Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951] VAR_037178 commonName VAR_037178 VAR_037178 disease not phenotype-associated VAR_037179 commonName VAR_037179 VAR_037179 disease not phenotype-associated VAR_037180 commonName VAR_037180 VAR_037180 disease phenotype-associated VAR_037180 phenoCommon Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951] VAR_037188 commonName VAR_037188 VAR_037188 disease not phenotype-associated VAR_037189 commonName VAR_037189 VAR_037189 disease not phenotype-associated VAR_037190 commonName VAR_037190 VAR_037190 disease not phenotype-associated VAR_037191 commonName VAR_037191 VAR_037191 disease not phenotype-associated VAR_037192 commonName VAR_037192 VAR_037192 disease not phenotype-associated VAR_037193 commonName VAR_037193 VAR_037193 disease not phenotype-associated VAR_037194 commonName VAR_037194 VAR_037194 disease not phenotype-associated VAR_037195 commonName VAR_037195 VAR_037195 disease not phenotype-associated VAR_037196 comment A breast cancer sample VAR_037196 commonName VAR_037196 VAR_037197 commonName VAR_037197 VAR_037197 disease not phenotype-associated VAR_037198 comment A breast cancer sample VAR_037198 commonName VAR_037198 VAR_037199 commonName VAR_037199 VAR_037199 disease not phenotype-associated VAR_037203 commonName VAR_037203 VAR_037203 disease not phenotype-associated VAR_037204 commonName VAR_037204 VAR_037204 disease not phenotype-associated VAR_037205 commonName VAR_037205 VAR_037205 disease not phenotype-associated VAR_037206 commonName VAR_037206 VAR_037206 disease not phenotype-associated VAR_037207 commonName VAR_037207 VAR_037207 disease not phenotype-associated VAR_037208 commonName VAR_037208 VAR_037208 disease not phenotype-associated VAR_037209 commonName VAR_037209 VAR_037209 disease not phenotype-associated VAR_037210 commonName VAR_037210 VAR_037210 disease not phenotype-associated VAR_037211 commonName VAR_037211 VAR_037211 disease not phenotype-associated VAR_037212 commonName VAR_037212 VAR_037212 disease not phenotype-associated VAR_037213 commonName VAR_037213 VAR_037213 disease not phenotype-associated VAR_037214 commonName VAR_037214 VAR_037214 disease not phenotype-associated VAR_037215 commonName VAR_037215 VAR_037215 disease not phenotype-associated VAR_037216 commonName VAR_037216 VAR_037216 disease not phenotype-associated VAR_037217 commonName VAR_037217 VAR_037217 disease not phenotype-associated VAR_037218 commonName VAR_037218 VAR_037218 disease not phenotype-associated VAR_037219 commonName VAR_037219 VAR_037219 disease not phenotype-associated VAR_037220 commonName VAR_037220 VAR_037220 disease not phenotype-associated VAR_037221 commonName VAR_037221 VAR_037221 disease not phenotype-associated VAR_037222 comment A breast cancer sample VAR_037222 commonName VAR_037222 VAR_037223 commonName VAR_037223 VAR_037223 disease not phenotype-associated VAR_037224 commonName VAR_037224 VAR_037224 disease not phenotype-associated VAR_037225 commonName VAR_037225 VAR_037225 disease not phenotype-associated VAR_037226 commonName VAR_037226 VAR_037226 disease not phenotype-associated VAR_037227 commonName VAR_037227 VAR_037227 disease not phenotype-associated VAR_037228 commonName VAR_037228 VAR_037228 disease not phenotype-associated VAR_037229 comment A breast cancer sample VAR_037229 commonName VAR_037229 VAR_037230 commonName VAR_037230 VAR_037230 disease not phenotype-associated VAR_037231 commonName VAR_037231 VAR_037231 disease not phenotype-associated VAR_037232 commonName VAR_037232 VAR_037232 disease not phenotype-associated VAR_037233 commonName VAR_037233 VAR_037233 disease not phenotype-associated VAR_037234 commonName VAR_037234 VAR_037234 disease not phenotype-associated VAR_037235 commonName VAR_037235 VAR_037235 disease not phenotype-associated VAR_037236 commonName VAR_037236 VAR_037236 disease not phenotype-associated VAR_037237 commonName VAR_037237 VAR_037237 disease not phenotype-associated VAR_037238 commonName VAR_037238 VAR_037238 disease not phenotype-associated VAR_037245 commonName VAR_037245 VAR_037245 disease not phenotype-associated VAR_037246 commonName VAR_037246 VAR_037246 disease not phenotype-associated VAR_037247 commonName VAR_037247 VAR_037247 disease not phenotype-associated VAR_037248 commonName VAR_037248 VAR_037248 disease not phenotype-associated VAR_037249 commonName VAR_037249 VAR_037249 disease not phenotype-associated VAR_037250 commonName VAR_037250 VAR_037250 disease not phenotype-associated VAR_037251 commonName VAR_037251 VAR_037251 disease not phenotype-associated VAR_037252 commonName VAR_037252 VAR_037252 disease phenotype-associated VAR_037252 phenoCommon Phosphoserine aminotransferase deficiency (PSATD) [MIM:610992] VAR_037253 commonName VAR_037253 VAR_037253 disease not phenotype-associated VAR_037254 commonName VAR_037254 VAR_037254 disease not phenotype-associated VAR_037255 commonName VAR_037255 VAR_037255 disease not phenotype-associated VAR_037257 commonName VAR_037257 VAR_037257 disease not phenotype-associated VAR_037258 commonName VAR_037258 VAR_037258 disease not phenotype-associated VAR_037259 commonName VAR_037259 VAR_037259 disease not phenotype-associated VAR_037260 commonName VAR_037260 VAR_037260 disease not phenotype-associated VAR_037261 commonName VAR_037261 VAR_037261 disease not phenotype-associated VAR_037262 commonName VAR_037262 VAR_037262 disease not phenotype-associated VAR_037263 commonName VAR_037263 VAR_037263 disease not phenotype-associated VAR_037264 commonName VAR_037264 VAR_037264 disease not phenotype-associated VAR_037266 commonName VAR_037266 VAR_037266 disease not phenotype-associated VAR_037267 commonName VAR_037267 VAR_037267 disease not phenotype-associated VAR_037268 commonName VAR_037268 VAR_037268 disease not phenotype-associated VAR_037269 commonName VAR_037269 VAR_037269 disease not phenotype-associated VAR_037270 commonName VAR_037270 VAR_037270 disease not phenotype-associated VAR_037271 commonName VAR_037271 VAR_037271 disease not phenotype-associated VAR_037272 commonName VAR_037272 VAR_037272 disease not phenotype-associated VAR_037273 commonName VAR_037273 VAR_037273 disease not phenotype-associated VAR_037274 commonName VAR_037274 VAR_037274 disease not phenotype-associated VAR_037275 commonName VAR_037275 VAR_037275 disease not phenotype-associated VAR_037276 commonName VAR_037276 VAR_037276 disease not phenotype-associated VAR_037277 commonName VAR_037277 VAR_037277 disease not phenotype-associated VAR_037278 commonName VAR_037278 VAR_037278 disease not phenotype-associated VAR_037284 commonName VAR_037284 VAR_037284 disease not phenotype-associated VAR_037285 commonName VAR_037285 VAR_037285 disease not phenotype-associated VAR_037286 commonName VAR_037286 VAR_037286 disease not phenotype-associated VAR_037287 commonName VAR_037287 VAR_037287 disease not phenotype-associated VAR_037288 commonName VAR_037288 VAR_037288 disease not phenotype-associated VAR_037289 commonName VAR_037289 VAR_037289 disease not phenotype-associated VAR_037290 commonName VAR_037290 VAR_037290 disease not phenotype-associated VAR_037295 commonName VAR_037295 VAR_037295 disease not phenotype-associated VAR_037296 commonName VAR_037296 VAR_037296 disease not phenotype-associated VAR_037300 commonName VAR_037300 VAR_037300 disease phenotype-associated VAR_037300 phenoCommon Subcortical band heterotopia (SBH) [MIM:607432] VAR_037301 commonName VAR_037301 VAR_037301 disease phenotype-associated VAR_037301 phenoCommon Lissencephaly type 1 (LIS1) [MIM:607432] VAR_037302 commonName VAR_037302 VAR_037302 disease phenotype-associated VAR_037302 phenoCommon Deafness autosomal dominant type 4A (DFNA4A) [MIM:600652] VAR_037304 commonName VAR_037304 VAR_037304 disease phenotype-associated VAR_037304 phenoCommon Hemochromatosis (HFE) [MIM:235200] VAR_037305 commonName VAR_037305 VAR_037305 disease phenotype-associated VAR_037305 phenoCommon Rubinstein-Taybi syndrome type 1 (RSTS1) [MIM:180849] VAR_037306 commonName VAR_037306 VAR_037306 disease phenotype-associated VAR_037306 phenoCommon Trimethylaminuria (TMAU) [MIM:602079] VAR_037307 commonName VAR_037307 VAR_037307 disease phenotype-associated VAR_037307 phenoCommon Trimethylaminuria (TMAU) [MIM:602079] VAR_037308 commonName VAR_037308 VAR_037308 disease phenotype-associated VAR_037308 phenoCommon Trimethylaminuria (TMAU) [MIM:602079] VAR_037309 commonName VAR_037309 VAR_037309 disease not phenotype-associated VAR_037310 commonName VAR_037310 VAR_037310 disease phenotype-associated VAR_037310 phenoCommon Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650] VAR_037311 commonName VAR_037311 VAR_037311 disease phenotype-associated VAR_037311 phenoCommon Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650] VAR_037312 commonName VAR_037312 VAR_037312 disease not phenotype-associated VAR_037313 commonName VAR_037313 VAR_037313 disease not phenotype-associated VAR_037314 commonName VAR_037314 VAR_037314 disease not phenotype-associated VAR_037317 commonName VAR_037317 VAR_037318 commonName VAR_037318 VAR_037318 disease phenotype-associated VAR_037318 phenoCommon Cystinosis nephropathic type (CTNS) [MIM:219800] VAR_037319 commonName VAR_037319 VAR_037319 disease phenotype-associated VAR_037319 phenoCommon Cystinosis late-onset juvenile or adolescent nephropathic type (CTNSJAN) [MIM:219900] VAR_037320 commonName VAR_037320 VAR_037320 disease phenotype-associated VAR_037320 phenoCommon Cystinosis late-onset juvenile or adolescent nephropathic type (CTNSJAN) [MIM:219900] VAR_037325 commonName VAR_037325 VAR_037325 disease not phenotype-associated VAR_037326 commonName VAR_037326 VAR_037326 disease not phenotype-associated VAR_037327 commonName VAR_037327 VAR_037327 disease not phenotype-associated VAR_037331 commonName VAR_037331 VAR_037331 disease not phenotype-associated VAR_037332 commonName VAR_037332 VAR_037332 disease not phenotype-associated VAR_037333 commonName VAR_037333 VAR_037333 disease not phenotype-associated VAR_037334 commonName VAR_037334 VAR_037334 disease not phenotype-associated VAR_037335 commonName VAR_037335 VAR_037335 disease not phenotype-associated VAR_037336 commonName VAR_037336 VAR_037336 disease not phenotype-associated VAR_037337 commonName VAR_037337 VAR_037337 disease not phenotype-associated VAR_037338 commonName VAR_037338 VAR_037338 disease not phenotype-associated VAR_037339 commonName VAR_037339 VAR_037339 disease not phenotype-associated VAR_037340 commonName VAR_037340 VAR_037340 disease not phenotype-associated VAR_037341 commonName VAR_037341 VAR_037341 disease not phenotype-associated VAR_037342 commonName VAR_037342 VAR_037342 disease not phenotype-associated VAR_037343 commonName VAR_037343 VAR_037343 disease not phenotype-associated VAR_037344 commonName VAR_037344 VAR_037344 disease not phenotype-associated VAR_037345 commonName VAR_037345 VAR_037345 disease not phenotype-associated VAR_037346 commonName VAR_037346 VAR_037346 disease not phenotype-associated VAR_037347 commonName VAR_037347 VAR_037347 disease not phenotype-associated VAR_037348 commonName VAR_037348 VAR_037348 disease not phenotype-associated VAR_037350 commonName VAR_037350 VAR_037350 disease not phenotype-associated VAR_037351 commonName VAR_037351 VAR_037351 disease not phenotype-associated VAR_037352 commonName VAR_037352 VAR_037352 disease not phenotype-associated VAR_037353 commonName VAR_037353 VAR_037353 disease not phenotype-associated VAR_037354 commonName VAR_037354 VAR_037354 disease not phenotype-associated VAR_037355 commonName VAR_037355 VAR_037355 disease not phenotype-associated VAR_037357 commonName VAR_037357 VAR_037357 disease not phenotype-associated VAR_037358 commonName VAR_037358 VAR_037358 disease not phenotype-associated VAR_037359 commonName VAR_037359 VAR_037359 disease not phenotype-associated VAR_037360 commonName VAR_037360 VAR_037360 disease not phenotype-associated VAR_037361 commonName VAR_037361 VAR_037361 disease not phenotype-associated VAR_037362 commonName VAR_037362 VAR_037362 disease not phenotype-associated VAR_037363 commonName VAR_037363 VAR_037363 disease not phenotype-associated VAR_037364 commonName VAR_037364 VAR_037364 disease not phenotype-associated VAR_037365 commonName VAR_037365 VAR_037365 disease phenotype-associated VAR_037365 phenoCommon Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060] VAR_037366 commonName VAR_037366 VAR_037366 disease phenotype-associated VAR_037366 phenoCommon Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060] VAR_037367 commonName VAR_037367 VAR_037367 disease phenotype-associated VAR_037367 phenoCommon Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060] VAR_037368 commonName VAR_037368 VAR_037368 disease phenotype-associated VAR_037368 phenoCommon Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060] VAR_037369 commonName VAR_037369 VAR_037369 disease phenotype-associated VAR_037369 phenoCommon Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060] VAR_037370 commonName VAR_037370 VAR_037370 disease phenotype-associated VAR_037370 phenoCommon Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060] VAR_037371 commonName VAR_037371 VAR_037371 disease phenotype-associated VAR_037371 phenoCommon Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060] VAR_037372 commonName VAR_037372 VAR_037372 disease phenotype-associated VAR_037372 phenoCommon Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060] VAR_037374 commonName VAR_037374 VAR_037374 disease not phenotype-associated VAR_037375 commonName VAR_037375 VAR_037375 disease phenotype-associated VAR_037375 phenoCommon Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060] VAR_037376 commonName VAR_037376 VAR_037376 disease phenotype-associated VAR_037376 phenoCommon Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060] VAR_037377 commonName VAR_037377 VAR_037377 disease phenotype-associated VAR_037377 phenoCommon Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060] VAR_037378 commonName VAR_037378 VAR_037378 disease phenotype-associated VAR_037378 phenoCommon Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060] VAR_037379 commonName VAR_037379 VAR_037379 disease phenotype-associated VAR_037379 phenoCommon Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060] VAR_037381 commonName VAR_037381 VAR_037381 disease phenotype-associated VAR_037381 phenoCommon Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060] VAR_037382 commonName VAR_037382 VAR_037382 disease not phenotype-associated VAR_037383 commonName VAR_037383 VAR_037383 disease not phenotype-associated VAR_037385 commonName VAR_037385 VAR_037385 disease not phenotype-associated VAR_037386 commonName VAR_037386 VAR_037386 disease not phenotype-associated VAR_037387 commonName VAR_037387 VAR_037387 disease not phenotype-associated VAR_037388 commonName VAR_037388 VAR_037388 disease not phenotype-associated VAR_037389 commonName VAR_037389 VAR_037389 disease not phenotype-associated VAR_037390 commonName VAR_037390 VAR_037390 disease not phenotype-associated VAR_037391 commonName VAR_037391 VAR_037391 disease not phenotype-associated VAR_037392 commonName VAR_037392 VAR_037392 disease not phenotype-associated VAR_037393 commonName VAR_037393 VAR_037393 disease not phenotype-associated VAR_037394 commonName VAR_037394 VAR_037394 disease not phenotype-associated VAR_037395 commonName VAR_037395 VAR_037395 disease not phenotype-associated VAR_037403 commonName VAR_037403 VAR_037403 disease not phenotype-associated VAR_037404 commonName VAR_037404 VAR_037404 disease not phenotype-associated VAR_037405 commonName VAR_037405 VAR_037405 disease not phenotype-associated VAR_037419 commonName VAR_037419 VAR_037419 disease not phenotype-associated VAR_037420 commonName VAR_037420 VAR_037420 disease not phenotype-associated VAR_037421 commonName VAR_037421 VAR_037421 disease not phenotype-associated VAR_037422 commonName VAR_037422 VAR_037422 disease not phenotype-associated VAR_037423 commonName VAR_037423 VAR_037423 disease not phenotype-associated VAR_037424 commonName VAR_037424 VAR_037424 disease phenotype-associated VAR_037424 phenoCommon Osteopetrosis autosomal recessive type 2 (OPTB2) [MIM:259710] VAR_037425 commonName VAR_037425 VAR_037425 disease phenotype-associated VAR_037425 phenoCommon Centronuclear myopathy type 2 (CNM2) [MIM:255200] VAR_037426 commonName VAR_037426 VAR_037426 disease phenotype-associated VAR_037426 phenoCommon Centronuclear myopathy type 2 (CNM2) [MIM:255200] VAR_037427 commonName VAR_037427 VAR_037427 disease phenotype-associated VAR_037427 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] VAR_037428 commonName VAR_037428 VAR_037428 disease phenotype-associated VAR_037428 phenoCommon Gastric cancer (GASC) [MIM:613659] VAR_037429 commonName VAR_037429 VAR_037429 disease phenotype-associated VAR_037429 phenoCommon Autoimmune lymphoproliferative syndrome type 2A (ALPS2A) [MIM:603909] VAR_037430 commonName VAR_037430 VAR_037430 disease phenotype-associated VAR_037430 phenoCommon Familial non-Hodgkin lymphoma (NHL) [MIM:605027] VAR_037431 commonName VAR_037431 VAR_037431 disease not phenotype-associated VAR_037432 commonName VAR_037432 VAR_037432 disease not phenotype-associated VAR_037433 commonName VAR_037433 VAR_037433 disease phenotype-associated VAR_037433 phenoCommon Arterial calcification of infancy, generalized, type 1 (GACI1) [MIM:208000] VAR_037434 commonName VAR_037434 VAR_037435 commonName VAR_037435 VAR_037435 disease not phenotype-associated VAR_037438 commonName VAR_037438 VAR_037438 disease phenotype-associated VAR_037438 phenoCommon Autosomal recessive periventricular nodular heterotopia type 2 (PVNH2) [MIM:608097] VAR_037441 commonName VAR_037441 VAR_037441 disease phenotype-associated VAR_037441 phenoCommon Ichthyosis lamellar type 3 (LI3) [MIM:604777] VAR_037442 commonName VAR_037442 VAR_037442 disease phenotype-associated VAR_037442 phenoCommon Ichthyosis lamellar type 3 (LI3) [MIM:604777] VAR_037443 commonName VAR_037443 VAR_037443 disease phenotype-associated VAR_037443 phenoCommon Ichthyosis lamellar type 3 (LI3) [MIM:604777] VAR_037444 commonName VAR_037444 VAR_037444 disease phenotype-associated VAR_037444 phenoCommon Ichthyosis lamellar type 3 (LI3) [MIM:604777] VAR_037445 commonName VAR_037445 VAR_037445 disease phenotype-associated VAR_037445 phenoCommon Ichthyosis lamellar type 3 (LI3) [MIM:604777] VAR_037446 commonName VAR_037446 VAR_037446 disease not phenotype-associated VAR_037447 commonName VAR_037447 VAR_037447 disease not phenotype-associated VAR_037448 commonName VAR_037448 VAR_037448 disease not phenotype-associated VAR_037449 commonName VAR_037449 VAR_037449 disease not phenotype-associated VAR_037450 commonName VAR_037450 VAR_037450 disease not phenotype-associated VAR_037451 commonName VAR_037451 VAR_037451 disease not phenotype-associated VAR_037452 commonName VAR_037452 VAR_037452 disease not phenotype-associated VAR_037453 commonName VAR_037453 VAR_037453 disease not phenotype-associated VAR_037454 comment A colorectal cancer sample VAR_037454 commonName VAR_037454 VAR_037455 commonName VAR_037455 VAR_037455 disease not phenotype-associated VAR_037456 commonName VAR_037456 VAR_037456 disease not phenotype-associated VAR_037457 commonName VAR_037457 VAR_037457 disease not phenotype-associated VAR_037458 commonName VAR_037458 VAR_037458 disease not phenotype-associated VAR_037459 commonName VAR_037459 VAR_037459 disease not phenotype-associated VAR_037460 commonName VAR_037460 VAR_037460 disease not phenotype-associated VAR_037461 commonName VAR_037461 VAR_037461 disease not phenotype-associated VAR_037462 commonName VAR_037462 VAR_037462 disease not phenotype-associated VAR_037463 commonName VAR_037463 VAR_037463 disease not phenotype-associated VAR_037464 commonName VAR_037464 VAR_037464 disease not phenotype-associated VAR_037465 commonName VAR_037465 VAR_037465 disease not phenotype-associated VAR_037466 commonName VAR_037466 VAR_037466 disease not phenotype-associated VAR_037467 commonName VAR_037467 VAR_037467 disease not phenotype-associated VAR_037468 comment A breast cancer sample VAR_037468 commonName VAR_037468 VAR_037469 commonName VAR_037469 VAR_037469 disease not phenotype-associated VAR_037470 commonName VAR_037470 VAR_037470 disease not phenotype-associated VAR_037471 commonName VAR_037471 VAR_037471 disease not phenotype-associated VAR_037472 commonName VAR_037472 VAR_037472 disease not phenotype-associated VAR_037473 commonName VAR_037473 VAR_037473 disease not phenotype-associated VAR_037474 commonName VAR_037474 VAR_037474 disease not phenotype-associated VAR_037475 commonName VAR_037475 VAR_037475 disease not phenotype-associated VAR_037476 commonName VAR_037476 VAR_037476 disease not phenotype-associated VAR_037477 commonName VAR_037477 VAR_037477 disease not phenotype-associated VAR_037478 commonName VAR_037478 VAR_037478 disease not phenotype-associated VAR_037479 commonName VAR_037479 VAR_037479 disease not phenotype-associated VAR_037480 commonName VAR_037480 VAR_037480 disease not phenotype-associated VAR_037481 commonName VAR_037481 VAR_037481 disease not phenotype-associated VAR_037482 commonName VAR_037482 VAR_037482 disease not phenotype-associated VAR_037483 commonName VAR_037483 VAR_037483 disease not phenotype-associated VAR_037484 commonName VAR_037484 VAR_037484 disease not phenotype-associated VAR_037485 commonName VAR_037485 VAR_037485 disease not phenotype-associated VAR_037486 commonName VAR_037486 VAR_037486 disease not phenotype-associated VAR_037487 comment A colorectal cancer sample VAR_037487 commonName VAR_037487 VAR_037488 comment A colorectal cancer sample VAR_037488 commonName VAR_037488 VAR_037489 commonName VAR_037489 VAR_037489 disease not phenotype-associated VAR_037490 commonName VAR_037490 VAR_037490 disease not phenotype-associated VAR_037491 commonName VAR_037491 VAR_037491 disease not phenotype-associated VAR_037492 commonName VAR_037492 VAR_037492 disease not phenotype-associated VAR_037494 commonName VAR_037494 VAR_037494 disease not phenotype-associated VAR_037495 commonName VAR_037495 VAR_037495 disease not phenotype-associated VAR_037497 commonName VAR_037497 VAR_037497 disease not phenotype-associated VAR_037498 commonName VAR_037498 VAR_037498 disease not phenotype-associated VAR_037499 commonName VAR_037499 VAR_037499 disease not phenotype-associated VAR_037500 commonName VAR_037500 VAR_037500 disease not phenotype-associated VAR_037501 commonName VAR_037501 VAR_037501 disease not phenotype-associated VAR_037502 commonName VAR_037502 VAR_037502 disease not phenotype-associated VAR_037503 commonName VAR_037503 VAR_037503 disease not phenotype-associated VAR_037504 commonName VAR_037504 VAR_037504 disease not phenotype-associated VAR_037505 commonName VAR_037505 VAR_037505 disease not phenotype-associated VAR_037506 commonName VAR_037506 VAR_037506 disease not phenotype-associated VAR_037507 commonName VAR_037507 VAR_037507 disease not phenotype-associated VAR_037508 commonName VAR_037508 VAR_037508 disease not phenotype-associated VAR_037509 commonName VAR_037509 VAR_037509 disease not phenotype-associated VAR_037510 commonName VAR_037510 VAR_037510 disease not phenotype-associated VAR_037511 commonName VAR_037511 VAR_037511 disease not phenotype-associated VAR_037512 commonName VAR_037512 VAR_037512 disease not phenotype-associated VAR_037513 commonName VAR_037513 VAR_037513 disease not phenotype-associated VAR_037516 commonName VAR_037516 VAR_037516 disease not phenotype-associated VAR_037517 commonName VAR_037517 VAR_037517 disease not phenotype-associated VAR_037518 commonName VAR_037518 VAR_037518 disease not phenotype-associated VAR_037519 commonName VAR_037519 VAR_037519 disease not phenotype-associated VAR_037520 comment A breast cancer sample VAR_037520 commonName VAR_037520 VAR_037521 commonName VAR_037521 VAR_037521 disease not phenotype-associated VAR_037522 commonName VAR_037522 VAR_037522 disease not phenotype-associated VAR_037523 commonName VAR_037523 VAR_037523 disease not phenotype-associated VAR_037524 commonName VAR_037524 VAR_037524 disease not phenotype-associated VAR_037525 commonName VAR_037525 VAR_037525 disease not phenotype-associated VAR_037526 commonName VAR_037526 VAR_037526 disease not phenotype-associated VAR_037527 comment A breast cancer sample VAR_037527 commonName VAR_037527 VAR_037528 commonName VAR_037528 VAR_037528 disease not phenotype-associated VAR_037529 commonName VAR_037529 VAR_037529 disease not phenotype-associated VAR_037530 commonName VAR_037530 VAR_037530 disease phenotype-associated VAR_037530 phenoCommon Raine syndrome (RNS) [MIM:259775] VAR_037531 commonName VAR_037531 VAR_037531 disease phenotype-associated VAR_037531 phenoCommon Raine syndrome (RNS) [MIM:259775] VAR_037532 commonName VAR_037532 VAR_037532 disease phenotype-associated VAR_037532 phenoCommon Raine syndrome (RNS) [MIM:259775] VAR_037533 commonName VAR_037533 VAR_037533 disease phenotype-associated VAR_037533 phenoCommon Raine syndrome (RNS) [MIM:259775] VAR_037534 commonName VAR_037534 VAR_037534 disease phenotype-associated VAR_037534 phenoCommon Lujan-Fryns syndrome (LUJFRYS) [MIM:309520] VAR_037535 commonName VAR_037535 VAR_037535 disease not phenotype-associated VAR_037536 commonName VAR_037536 VAR_037536 disease not phenotype-associated VAR_037537 commonName VAR_037537 VAR_037537 disease not phenotype-associated VAR_037538 commonName VAR_037538 VAR_037538 disease not phenotype-associated VAR_037539 commonName VAR_037539 VAR_037539 disease not phenotype-associated VAR_037543 commonName VAR_037543 VAR_037543 disease not phenotype-associated VAR_037544 commonName VAR_037544 VAR_037544 disease not phenotype-associated VAR_037545 commonName VAR_037545 VAR_037545 disease not phenotype-associated VAR_037547 commonName VAR_037547 VAR_037547 disease not phenotype-associated VAR_037548 commonName VAR_037548 VAR_037548 disease not phenotype-associated VAR_037549 commonName VAR_037549 VAR_037549 disease not phenotype-associated VAR_037550 commonName VAR_037550 VAR_037550 disease not phenotype-associated VAR_037551 commonName VAR_037551 VAR_037551 disease not phenotype-associated VAR_037552 comment A colorectal cancer sample VAR_037552 commonName VAR_037552 VAR_037553 commonName VAR_037553 VAR_037553 disease not phenotype-associated VAR_037554 commonName VAR_037554 VAR_037554 disease not phenotype-associated VAR_037555 commonName VAR_037555 VAR_037555 disease not phenotype-associated VAR_037556 commonName VAR_037556 VAR_037556 disease not phenotype-associated VAR_037557 commonName VAR_037557 VAR_037557 disease not phenotype-associated VAR_037558 commonName VAR_037558 VAR_037558 disease not phenotype-associated VAR_037559 commonName VAR_037559 VAR_037559 disease not phenotype-associated VAR_037560 commonName VAR_037560 VAR_037560 disease not phenotype-associated VAR_037561 commonName VAR_037561 VAR_037562 commonName VAR_037562 VAR_037563 commonName VAR_037563 VAR_037564 commonName VAR_037564 VAR_037565 commonName VAR_037565 VAR_037565 disease not phenotype-associated VAR_037566 commonName VAR_037566 VAR_037567 commonName VAR_037567 VAR_037568 commonName VAR_037568 VAR_037568 disease not phenotype-associated VAR_037569 commonName VAR_037569 VAR_037569 disease not phenotype-associated VAR_037570 commonName VAR_037570 VAR_037570 disease not phenotype-associated VAR_037571 commonName VAR_037571 VAR_037571 disease not phenotype-associated VAR_037572 commonName VAR_037572 VAR_037572 disease not phenotype-associated VAR_037573 commonName VAR_037573 VAR_037573 disease not phenotype-associated VAR_037574 commonName VAR_037574 VAR_037574 disease not phenotype-associated VAR_037576 commonName VAR_037576 VAR_037576 disease phenotype-associated VAR_037576 phenoCommon D-bifunctional protein deficiency (DBPD) [MIM:261515] VAR_037577 commonName VAR_037577 VAR_037577 disease not phenotype-associated VAR_037578 commonName VAR_037578 VAR_037578 disease phenotype-associated VAR_037578 phenoCommon C syndrome (CSYN) [MIM:211750] VAR_037579 commonName VAR_037579 VAR_037579 disease phenotype-associated VAR_037579 phenoCommon Cataract posterior polar type 3 (CTPP3) [MIM:605387] VAR_037580 commonName VAR_037580 VAR_037580 disease phenotype-associated VAR_037580 phenoCommon Cataract posterior polar type 3 (CTPP3) [MIM:605387] VAR_037581 commonName VAR_037581 VAR_037581 disease phenotype-associated VAR_037581 phenoCommon Amelogenesis imperfecta type 1E (AI1E) [MIM:301200] VAR_037582 commonName VAR_037582 VAR_037582 disease phenotype-associated VAR_037582 phenoCommon Amelogenesis imperfecta type 1E (AI1E) [MIM:301200] VAR_037583 commonName VAR_037583 VAR_037583 disease phenotype-associated VAR_037583 phenoCommon Amelogenesis imperfecta type 1E (AI1E) [MIM:301200] VAR_037584 commonName VAR_037584 VAR_037584 disease phenotype-associated VAR_037584 phenoCommon Retinitis pigmentosa type 14 (RP14) [MIM:600132] VAR_037585 commonName VAR_037585 VAR_037585 disease not phenotype-associated VAR_037586 commonName VAR_037586 VAR_037586 disease not phenotype-associated VAR_037587 commonName VAR_037587 VAR_037587 disease not phenotype-associated VAR_037588 commonName VAR_037588 VAR_037588 disease not phenotype-associated VAR_037589 commonName VAR_037589 VAR_037589 disease not phenotype-associated VAR_037590 commonName VAR_037590 VAR_037590 disease not phenotype-associated VAR_037591 commonName VAR_037591 VAR_037591 disease not phenotype-associated VAR_037592 commonName VAR_037592 VAR_037592 disease not phenotype-associated VAR_037593 commonName VAR_037593 VAR_037593 disease not phenotype-associated VAR_037594 commonName VAR_037594 VAR_037594 disease not phenotype-associated VAR_037595 comment A colorectal cancer sample VAR_037595 commonName VAR_037595 VAR_037596 comment A breast cancer sample VAR_037596 commonName VAR_037596 VAR_037597 commonName VAR_037597 VAR_037597 disease not phenotype-associated VAR_037598 comment A breast cancer sample VAR_037598 commonName VAR_037598 VAR_037599 commonName VAR_037599 VAR_037599 disease not phenotype-associated VAR_037600 commonName VAR_037600 VAR_037600 disease not phenotype-associated VAR_037601 commonName VAR_037601 VAR_037601 disease not phenotype-associated VAR_037602 comment A colorectal cancer sample VAR_037602 commonName VAR_037602 VAR_037603 commonName VAR_037603 VAR_037603 disease not phenotype-associated VAR_037604 commonName VAR_037604 VAR_037604 disease not phenotype-associated VAR_037605 commonName VAR_037605 VAR_037605 disease phenotype-associated VAR_037605 phenoCommon Symphalangism proximal syndrome (SYM1) [MIM:185800] VAR_037606 commonName VAR_037606 VAR_037606 disease not phenotype-associated VAR_037607 commonName VAR_037607 VAR_037607 disease not phenotype-associated VAR_037608 commonName VAR_037608 VAR_037608 disease not phenotype-associated VAR_037609 commonName VAR_037609 VAR_037609 disease not phenotype-associated VAR_037610 commonName VAR_037610 VAR_037610 disease not phenotype-associated VAR_037611 commonName VAR_037611 VAR_037611 disease not phenotype-associated VAR_037612 commonName VAR_037612 VAR_037612 disease not phenotype-associated VAR_037613 commonName VAR_037613 VAR_037613 disease not phenotype-associated VAR_037614 commonName VAR_037614 VAR_037614 disease not phenotype-associated VAR_037615 commonName VAR_037615 VAR_037615 disease not phenotype-associated VAR_037616 commonName VAR_037616 VAR_037616 disease not phenotype-associated VAR_037617 commonName VAR_037617 VAR_037617 disease not phenotype-associated VAR_037618 commonName VAR_037618 VAR_037618 disease not phenotype-associated VAR_037619 commonName VAR_037619 VAR_037619 disease phenotype-associated VAR_037619 phenoCommon Retinitis pigmentosa type 20 (RP20) [MIM:613794] VAR_037620 commonName VAR_037620 VAR_037620 disease phenotype-associated VAR_037620 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_037621 commonName VAR_037621 VAR_037621 disease phenotype-associated VAR_037621 phenoCommon Paragangliomas type 4 (PGL4) [MIM:115310] VAR_037622 commonName VAR_037622 VAR_037622 disease not phenotype-associated VAR_037623 commonName VAR_037623 VAR_037623 disease not phenotype-associated VAR_037624 commonName VAR_037624 VAR_037624 disease not phenotype-associated VAR_037625 commonName VAR_037625 VAR_037625 disease not phenotype-associated VAR_037626 commonName VAR_037626 VAR_037626 disease not phenotype-associated VAR_037627 commonName VAR_037627 VAR_037627 disease not phenotype-associated VAR_037628 commonName VAR_037628 VAR_037628 disease not phenotype-associated VAR_037629 commonName VAR_037629 VAR_037629 disease not phenotype-associated VAR_037630 commonName VAR_037630 VAR_037630 disease not phenotype-associated VAR_037631 commonName VAR_037631 VAR_037631 disease not phenotype-associated VAR_037632 commonName VAR_037632 VAR_037632 disease not phenotype-associated VAR_037634 commonName VAR_037634 VAR_037634 disease not phenotype-associated VAR_037635 commonName VAR_037635 VAR_037635 disease phenotype-associated VAR_037635 phenoCommon Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672] VAR_037636 commonName VAR_037636 VAR_037636 disease phenotype-associated VAR_037636 phenoCommon Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672] VAR_037638 commonName VAR_037638 VAR_037638 disease not phenotype-associated VAR_037639 commonName VAR_037639 VAR_037639 disease not phenotype-associated VAR_037640 comment A colorectal cancer sample VAR_037640 commonName VAR_037640 VAR_037641 comment A colorectal cancer sample VAR_037641 commonName VAR_037641 VAR_037642 commonName VAR_037642 VAR_037642 disease phenotype-associated VAR_037642 phenoCommon Cataract zonular pulverulent type 1 (CZP1) [MIM:116200] VAR_037646 commonName VAR_037646 VAR_037646 disease not phenotype-associated VAR_037647 commonName VAR_037647 VAR_037647 disease not phenotype-associated VAR_037648 commonName VAR_037648 VAR_037648 disease not phenotype-associated VAR_037649 commonName VAR_037649 VAR_037649 disease not phenotype-associated VAR_037650 commonName VAR_037650 VAR_037650 disease not phenotype-associated VAR_037651 commonName VAR_037651 VAR_037651 disease not phenotype-associated VAR_037652 commonName VAR_037652 VAR_037652 disease phenotype-associated VAR_037652 phenoCommon Macrocephaly macrosomia facial dysmorphism syndrome (MMFD) [MIM:614192] VAR_037653 commonName VAR_037653 VAR_037653 disease not phenotype-associated VAR_037654 commonName VAR_037654 VAR_037654 disease not phenotype-associated VAR_037655 commonName VAR_037655 VAR_037655 disease not phenotype-associated VAR_037656 commonName VAR_037656 VAR_037656 disease not phenotype-associated VAR_037657 commonName VAR_037657 VAR_037657 disease not phenotype-associated VAR_037658 commonName VAR_037658 VAR_037658 disease not phenotype-associated VAR_037659 commonName VAR_037659 VAR_037659 disease not phenotype-associated VAR_037660 comment A colorectal cancer sample VAR_037660 commonName VAR_037660 VAR_037661 commonName VAR_037661 VAR_037661 disease not phenotype-associated VAR_037662 commonName VAR_037662 VAR_037662 disease not phenotype-associated VAR_037663 comment A colorectal cancer sample VAR_037663 commonName VAR_037663 VAR_037664 commonName VAR_037664 VAR_037664 disease phenotype-associated VAR_037664 phenoCommon Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055] VAR_037665 commonName VAR_037665 VAR_037665 disease phenotype-associated VAR_037665 phenoCommon Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055] VAR_037666 commonName VAR_037666 VAR_037666 disease phenotype-associated VAR_037666 phenoCommon Mental retardation syndromic X-linked type 14 (MRXS14) [MIM:300676] VAR_037667 commonName VAR_037667 VAR_037667 disease not phenotype-associated VAR_037668 commonName VAR_037668 VAR_037668 disease not phenotype-associated VAR_037670 commonName VAR_037670 VAR_037670 disease not phenotype-associated VAR_037671 commonName VAR_037671 VAR_037671 disease not phenotype-associated VAR_037672 commonName VAR_037672 VAR_037672 disease not phenotype-associated VAR_037673 commonName VAR_037673 VAR_037673 disease not phenotype-associated VAR_037674 commonName VAR_037674 VAR_037674 disease not phenotype-associated VAR_037675 commonName VAR_037675 VAR_037675 disease not phenotype-associated VAR_037676 commonName VAR_037676 VAR_037676 disease not phenotype-associated VAR_037677 commonName VAR_037677 VAR_037677 disease not phenotype-associated VAR_037678 commonName VAR_037678 VAR_037678 disease not phenotype-associated VAR_037679 commonName VAR_037679 VAR_037679 disease not phenotype-associated VAR_037680 commonName VAR_037680 VAR_037680 disease not phenotype-associated VAR_037681 commonName VAR_037681 VAR_037681 disease not phenotype-associated VAR_037682 commonName VAR_037682 VAR_037682 disease not phenotype-associated VAR_037683 commonName VAR_037683 VAR_037683 disease not phenotype-associated VAR_037684 commonName VAR_037684 VAR_037684 disease not phenotype-associated VAR_037686 commonName VAR_037686 VAR_037686 disease not phenotype-associated VAR_037687 commonName VAR_037687 VAR_037687 disease not phenotype-associated VAR_037688 commonName VAR_037688 VAR_037688 disease not phenotype-associated VAR_037689 commonName VAR_037689 VAR_037689 disease not phenotype-associated VAR_037690 commonName VAR_037690 VAR_037690 disease not phenotype-associated VAR_037691 commonName VAR_037691 VAR_037691 disease not phenotype-associated VAR_037692 commonName VAR_037692 VAR_037692 disease not phenotype-associated VAR_037693 commonName VAR_037693 VAR_037693 disease not phenotype-associated VAR_037694 commonName VAR_037694 VAR_037694 disease not phenotype-associated VAR_037695 commonName VAR_037695 VAR_037695 disease not phenotype-associated VAR_037696 commonName VAR_037696 VAR_037696 disease not phenotype-associated VAR_037697 commonName VAR_037697 VAR_037697 disease not phenotype-associated VAR_037698 commonName VAR_037698 VAR_037698 disease not phenotype-associated VAR_037699 commonName VAR_037699 VAR_037699 disease not phenotype-associated VAR_037700 commonName VAR_037700 VAR_037700 disease not phenotype-associated VAR_037701 commonName VAR_037701 VAR_037701 disease not phenotype-associated VAR_037703 comment A breast cancer sample VAR_037703 commonName VAR_037703 VAR_037704 comment A breast cancer sample VAR_037704 commonName VAR_037704 VAR_037705 commonName VAR_037705 VAR_037705 disease not phenotype-associated VAR_037706 commonName VAR_037706 VAR_037706 disease not phenotype-associated VAR_037707 commonName VAR_037707 VAR_037707 disease not phenotype-associated VAR_037708 commonName VAR_037708 VAR_037708 disease not phenotype-associated VAR_037709 commonName VAR_037709 VAR_037709 disease not phenotype-associated VAR_037710 commonName VAR_037710 VAR_037710 disease not phenotype-associated VAR_037711 commonName VAR_037711 VAR_037711 disease not phenotype-associated VAR_037712 commonName VAR_037712 VAR_037712 disease not phenotype-associated VAR_037713 commonName VAR_037713 VAR_037713 disease not phenotype-associated VAR_037714 commonName VAR_037714 VAR_037714 disease not phenotype-associated VAR_037715 commonName VAR_037715 VAR_037715 disease not phenotype-associated VAR_037716 commonName VAR_037716 VAR_037716 disease not phenotype-associated VAR_037717 commonName VAR_037717 VAR_037717 disease not phenotype-associated VAR_037718 commonName VAR_037718 VAR_037718 disease not phenotype-associated VAR_037719 commonName VAR_037719 VAR_037719 disease not phenotype-associated VAR_037720 commonName VAR_037720 VAR_037720 disease not phenotype-associated VAR_037721 commonName VAR_037721 VAR_037721 disease not phenotype-associated VAR_037722 commonName VAR_037722 VAR_037722 disease not phenotype-associated VAR_037723 commonName VAR_037723 VAR_037723 disease not phenotype-associated VAR_037724 commonName VAR_037724 VAR_037724 disease not phenotype-associated VAR_037725 commonName VAR_037725 VAR_037725 disease not phenotype-associated VAR_037726 commonName VAR_037726 VAR_037726 disease not phenotype-associated VAR_037727 commonName VAR_037727 VAR_037727 disease not phenotype-associated VAR_037728 commonName VAR_037728 VAR_037728 disease not phenotype-associated VAR_037729 commonName VAR_037729 VAR_037729 disease not phenotype-associated VAR_037730 commonName VAR_037730 VAR_037730 disease not phenotype-associated VAR_037731 commonName VAR_037731 VAR_037731 disease not phenotype-associated VAR_037733 commonName VAR_037733 VAR_037733 disease phenotype-associated VAR_037733 phenoCommon Epimerase-deficiency galactosemia (EDG) [MIM:230350] VAR_037734 commonName VAR_037734 VAR_037734 disease phenotype-associated VAR_037734 phenoCommon Epimerase-deficiency galactosemia (EDG) [MIM:230350] VAR_037735 commonName VAR_037735 VAR_037735 disease phenotype-associated VAR_037735 phenoCommon Epimerase-deficiency galactosemia (EDG) [MIM:230350] VAR_037736 commonName VAR_037736 VAR_037736 disease phenotype-associated VAR_037736 phenoCommon Epimerase-deficiency galactosemia (EDG) [MIM:230350] VAR_037737 commonName VAR_037737 VAR_037737 disease phenotype-associated VAR_037737 phenoCommon Epimerase-deficiency galactosemia (EDG) [MIM:230350] VAR_037738 commonName VAR_037738 VAR_037738 disease phenotype-associated VAR_037738 phenoCommon Epimerase-deficiency galactosemia (EDG) [MIM:230350] VAR_037741 commonName VAR_037741 VAR_037741 disease not phenotype-associated VAR_037742 commonName VAR_037742 VAR_037742 disease not phenotype-associated VAR_037743 commonName VAR_037743 VAR_037743 disease not phenotype-associated VAR_037744 commonName VAR_037744 VAR_037744 disease not phenotype-associated VAR_037745 commonName VAR_037745 VAR_037745 disease not phenotype-associated VAR_037746 commonName VAR_037746 VAR_037746 disease not phenotype-associated VAR_037747 commonName VAR_037747 VAR_037747 disease not phenotype-associated VAR_037748 commonName VAR_037748 VAR_037748 disease not phenotype-associated VAR_037749 commonName VAR_037749 VAR_037749 disease not phenotype-associated VAR_037750 commonName VAR_037750 VAR_037750 disease not phenotype-associated VAR_037751 commonName VAR_037751 VAR_037751 disease not phenotype-associated VAR_037752 commonName VAR_037752 VAR_037752 disease not phenotype-associated VAR_037753 commonName VAR_037753 VAR_037753 disease not phenotype-associated VAR_037755 commonName VAR_037755 VAR_037755 disease not phenotype-associated VAR_037756 commonName VAR_037756 VAR_037756 disease not phenotype-associated VAR_037757 commonName VAR_037757 VAR_037757 disease not phenotype-associated VAR_037758 commonName VAR_037758 VAR_037758 disease not phenotype-associated VAR_037759 commonName VAR_037759 VAR_037759 disease not phenotype-associated VAR_037760 comment A colorectal cancer sample VAR_037760 commonName VAR_037760 VAR_037761 commonName VAR_037761 VAR_037761 disease not phenotype-associated VAR_037762 commonName VAR_037762 VAR_037762 disease not phenotype-associated VAR_037763 commonName VAR_037763 VAR_037763 disease not phenotype-associated VAR_037764 commonName VAR_037764 VAR_037764 disease not phenotype-associated VAR_037765 commonName VAR_037765 VAR_037765 disease not phenotype-associated VAR_037766 commonName VAR_037766 VAR_037766 disease not phenotype-associated VAR_037767 commonName VAR_037767 VAR_037767 disease not phenotype-associated VAR_037768 commonName VAR_037768 VAR_037768 disease not phenotype-associated VAR_037769 commonName VAR_037769 VAR_037769 disease not phenotype-associated VAR_037770 commonName VAR_037770 VAR_037770 disease not phenotype-associated VAR_037771 commonName VAR_037771 VAR_037771 disease not phenotype-associated VAR_037772 commonName VAR_037772 VAR_037772 disease not phenotype-associated VAR_037773 commonName VAR_037773 VAR_037773 disease not phenotype-associated VAR_037774 commonName VAR_037774 VAR_037774 disease not phenotype-associated VAR_037775 commonName VAR_037775 VAR_037775 disease not phenotype-associated VAR_037776 commonName VAR_037776 VAR_037776 disease not phenotype-associated VAR_037778 commonName VAR_037778 VAR_037778 disease not phenotype-associated VAR_037779 commonName VAR_037779 VAR_037779 disease not phenotype-associated VAR_037780 commonName VAR_037780 VAR_037781 commonName VAR_037781 VAR_037781 disease not phenotype-associated VAR_037782 commonName VAR_037782 VAR_037783 commonName VAR_037783 VAR_037783 disease not phenotype-associated VAR_037784 commonName VAR_037784 VAR_037784 disease not phenotype-associated VAR_037785 commonName VAR_037785 VAR_037785 disease not phenotype-associated VAR_037786 commonName VAR_037786 VAR_037786 disease not phenotype-associated VAR_037787 commonName VAR_037787 VAR_037787 disease not phenotype-associated VAR_037788 commonName VAR_037788 VAR_037788 disease not phenotype-associated VAR_037789 commonName VAR_037789 VAR_037789 disease not phenotype-associated VAR_037790 commonName VAR_037790 VAR_037790 disease not phenotype-associated VAR_037791 commonName VAR_037791 VAR_037791 disease not phenotype-associated VAR_037792 comment A breast cancer sample VAR_037792 commonName VAR_037792 VAR_037793 comment A breast cancer sample VAR_037793 commonName VAR_037793 VAR_037794 commonName VAR_037794 VAR_037794 disease not phenotype-associated VAR_037795 commonName VAR_037795 VAR_037795 disease phenotype-associated VAR_037795 phenoCommon Familial atrial fibrillation type 4 (ATFB4) [MIM:611493] VAR_037796 commonName VAR_037796 VAR_037796 disease not phenotype-associated VAR_037797 commonName VAR_037797 VAR_037797 disease not phenotype-associated VAR_037798 commonName VAR_037798 VAR_037798 disease not phenotype-associated VAR_037799 commonName VAR_037799 VAR_037799 disease not phenotype-associated VAR_037800 commonName VAR_037800 VAR_037800 disease not phenotype-associated VAR_037801 commonName VAR_037801 VAR_037801 disease not phenotype-associated VAR_037802 commonName VAR_037802 VAR_037802 disease not phenotype-associated VAR_037804 commonName VAR_037804 VAR_037804 disease not phenotype-associated VAR_037805 commonName VAR_037805 VAR_037805 disease not phenotype-associated VAR_037806 commonName VAR_037806 VAR_037806 disease phenotype-associated VAR_037806 phenoCommon Congenital disorder of glycosylation type 1D (CDG1D) [MIM:601110] VAR_037807 commonName VAR_037807 VAR_037807 disease phenotype-associated VAR_037807 phenoCommon Noonan syndrome type 5 (NS5) [MIM:611553] VAR_037808 commonName VAR_037808 VAR_037808 disease phenotype-associated VAR_037808 phenoCommon LEOPARD syndrome type 2 (LEOPARD2) [MIM:611554] VAR_037808 phenoCommon Noonan syndrome type 5 (NS5) [MIM:611553] VAR_037809 commonName VAR_037809 VAR_037809 disease phenotype-associated VAR_037809 phenoCommon Noonan syndrome type 5 (NS5) [MIM:611553] VAR_037810 commonName VAR_037810 VAR_037811 commonName VAR_037811 VAR_037811 disease phenotype-associated VAR_037811 phenoCommon Noonan syndrome type 5 (NS5) [MIM:611553] VAR_037812 commonName VAR_037812 VAR_037812 disease phenotype-associated VAR_037812 phenoCommon Noonan syndrome type 5 (NS5) [MIM:611553] VAR_037813 commonName VAR_037813 VAR_037813 disease phenotype-associated VAR_037813 phenoCommon Noonan syndrome type 5 (NS5) [MIM:611553] VAR_037814 commonName VAR_037814 VAR_037814 disease phenotype-associated VAR_037814 phenoCommon Noonan syndrome type 5 (NS5) [MIM:611553] VAR_037815 commonName VAR_037815 VAR_037815 disease phenotype-associated VAR_037815 phenoCommon Noonan syndrome type 5 (NS5) [MIM:611553] VAR_037816 commonName VAR_037816 VAR_037816 disease phenotype-associated VAR_037816 phenoCommon Noonan syndrome type 5 (NS5) [MIM:611553] VAR_037817 commonName VAR_037817 VAR_037817 disease phenotype-associated VAR_037817 phenoCommon Noonan syndrome type 5 (NS5) [MIM:611553] VAR_037818 commonName VAR_037818 VAR_037818 disease phenotype-associated VAR_037818 phenoCommon Noonan syndrome type 5 (NS5) [MIM:611553] VAR_037819 commonName VAR_037819 VAR_037819 disease phenotype-associated VAR_037819 phenoCommon Noonan syndrome type 5 (NS5) [MIM:611553] VAR_037820 commonName VAR_037820 VAR_037820 disease phenotype-associated VAR_037820 phenoCommon Noonan syndrome type 5 (NS5) [MIM:611553] VAR_037821 commonName VAR_037821 VAR_037821 disease phenotype-associated VAR_037821 phenoCommon LEOPARD syndrome type 2 (LEOPARD2) [MIM:611554] VAR_037821 phenoCommon Noonan syndrome type 5 (NS5) [MIM:611553] VAR_037834 commonName VAR_037834 VAR_037834 disease not phenotype-associated VAR_037835 commonName VAR_037835 VAR_037835 disease not phenotype-associated VAR_037836 commonName VAR_037836 VAR_037836 disease not phenotype-associated VAR_037838 commonName VAR_037838 VAR_037838 disease not phenotype-associated VAR_037839 commonName VAR_037839 VAR_037839 disease not phenotype-associated VAR_037840 commonName VAR_037840 VAR_037840 disease not phenotype-associated VAR_037842 commonName VAR_037842 VAR_037842 disease not phenotype-associated VAR_037844 commonName VAR_037844 VAR_037844 disease not phenotype-associated VAR_037845 commonName VAR_037845 VAR_037845 disease not phenotype-associated VAR_037846 commonName VAR_037846 VAR_037846 disease not phenotype-associated VAR_037847 comment A breast cancer sample VAR_037847 commonName VAR_037847 VAR_037848 commonName VAR_037848 VAR_037848 disease not phenotype-associated VAR_037849 commonName VAR_037849 VAR_037849 disease not phenotype-associated VAR_037850 commonName VAR_037850 VAR_037850 disease not phenotype-associated VAR_037851 commonName VAR_037851 VAR_037851 disease not phenotype-associated VAR_037852 commonName VAR_037852 VAR_037852 disease not phenotype-associated VAR_037853 commonName VAR_037853 VAR_037853 disease not phenotype-associated VAR_037854 commonName VAR_037854 VAR_037854 disease not phenotype-associated VAR_037855 commonName VAR_037855 VAR_037855 disease not phenotype-associated VAR_037856 commonName VAR_037856 VAR_037856 disease not phenotype-associated VAR_037857 commonName VAR_037857 VAR_037857 disease not phenotype-associated VAR_037858 commonName VAR_037858 VAR_037858 disease not phenotype-associated VAR_037859 commonName VAR_037859 VAR_037859 disease not phenotype-associated VAR_037860 commonName VAR_037860 VAR_037860 disease not phenotype-associated VAR_037861 commonName VAR_037861 VAR_037861 disease not phenotype-associated VAR_037865 commonName VAR_037865 VAR_037865 disease not phenotype-associated VAR_037866 commonName VAR_037866 VAR_037866 disease not phenotype-associated VAR_037867 commonName VAR_037867 VAR_037867 disease not phenotype-associated VAR_037868 commonName VAR_037868 VAR_037868 disease not phenotype-associated VAR_037869 commonName VAR_037869 VAR_037869 disease not phenotype-associated VAR_037870 commonName VAR_037870 VAR_037870 disease not phenotype-associated VAR_037871 commonName VAR_037871 VAR_037871 disease not phenotype-associated VAR_037872 commonName VAR_037872 VAR_037872 disease not phenotype-associated VAR_037873 commonName VAR_037873 VAR_037873 disease not phenotype-associated VAR_037875 commonName VAR_037875 VAR_037875 disease not phenotype-associated VAR_037876 commonName VAR_037876 VAR_037876 disease not phenotype-associated VAR_037877 commonName VAR_037877 VAR_037877 disease not phenotype-associated VAR_037878 commonName VAR_037878 VAR_037878 disease not phenotype-associated VAR_037879 commonName VAR_037879 VAR_037879 disease not phenotype-associated VAR_037880 commonName VAR_037880 VAR_037880 disease not phenotype-associated VAR_037883 commonName VAR_037883 VAR_037883 disease not phenotype-associated VAR_037884 commonName VAR_037884 VAR_037884 disease not phenotype-associated VAR_037885 commonName VAR_037885 VAR_037885 disease not phenotype-associated VAR_037886 commonName VAR_037886 VAR_037886 disease not phenotype-associated VAR_037887 commonName VAR_037887 VAR_037887 disease phenotype-associated VAR_037887 phenoCommon Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882] VAR_037888 commonName VAR_037888 VAR_037888 disease phenotype-associated VAR_037888 phenoCommon Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882] VAR_037889 commonName VAR_037889 VAR_037889 disease not phenotype-associated VAR_037891 commonName VAR_037891 VAR_037891 disease not phenotype-associated VAR_037892 commonName VAR_037892 VAR_037892 disease not phenotype-associated VAR_037893 commonName VAR_037893 VAR_037893 disease not phenotype-associated VAR_037902 commonName VAR_037902 VAR_037902 disease not phenotype-associated VAR_037903 commonName VAR_037903 VAR_037903 disease not phenotype-associated VAR_037904 commonName VAR_037904 VAR_037904 disease phenotype-associated VAR_037904 phenoCommon Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411] VAR_037905 commonName VAR_037905 VAR_037905 disease not phenotype-associated VAR_037906 commonName VAR_037906 VAR_037906 disease not phenotype-associated VAR_037907 commonName VAR_037907 VAR_037907 disease not phenotype-associated VAR_037908 commonName VAR_037908 VAR_037908 disease phenotype-associated VAR_037908 phenoCommon Pancreatitis (PCTT) [MIM:167800] VAR_037909 commonName VAR_037909 VAR_037909 disease phenotype-associated VAR_037909 phenoCommon Pancreatitis (PCTT) [MIM:167800] VAR_037910 comment A breast cancer sample VAR_037910 commonName VAR_037910 VAR_037911 commonName VAR_037911 VAR_037911 disease not phenotype-associated VAR_037914 commonName VAR_037914 VAR_037914 disease phenotype-associated VAR_037914 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_037915 commonName VAR_037915 VAR_037915 disease phenotype-associated VAR_037915 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_037916 commonName VAR_037916 VAR_037916 disease phenotype-associated VAR_037916 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_037917 commonName VAR_037917 VAR_037917 disease phenotype-associated VAR_037917 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_037918 commonName VAR_037918 VAR_037918 disease phenotype-associated VAR_037918 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_037919 commonName VAR_037919 VAR_037920 commonName VAR_037920 VAR_037920 disease phenotype-associated VAR_037920 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_037921 commonName VAR_037921 VAR_037921 disease phenotype-associated VAR_037921 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_037922 commonName VAR_037922 VAR_037922 disease phenotype-associated VAR_037922 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_037923 commonName VAR_037923 VAR_037923 disease phenotype-associated VAR_037923 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_037924 commonName VAR_037924 VAR_037924 disease phenotype-associated VAR_037924 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_037925 commonName VAR_037925 VAR_037925 disease phenotype-associated VAR_037925 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_037926 commonName VAR_037926 VAR_037926 disease phenotype-associated VAR_037926 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_037927 commonName VAR_037927 VAR_037927 disease phenotype-associated VAR_037927 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_037928 commonName VAR_037928 VAR_037928 disease phenotype-associated VAR_037928 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_037929 commonName VAR_037929 VAR_037929 disease phenotype-associated VAR_037929 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_037930 commonName VAR_037930 VAR_037930 disease phenotype-associated VAR_037930 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_037931 commonName VAR_037931 VAR_037931 disease phenotype-associated VAR_037931 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_037932 commonName VAR_037932 VAR_037932 disease phenotype-associated VAR_037932 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_037933 commonName VAR_037933 VAR_037933 disease phenotype-associated VAR_037933 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_037934 commonName VAR_037934 VAR_037934 disease phenotype-associated VAR_037934 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_037935 commonName VAR_037935 VAR_037935 disease phenotype-associated VAR_037935 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_037936 commonName VAR_037936 VAR_037936 disease phenotype-associated VAR_037936 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_037937 commonName VAR_037937 VAR_037937 disease phenotype-associated VAR_037937 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_037939 commonName VAR_037939 VAR_037939 disease phenotype-associated VAR_037939 phenoCommon GM1-gangliosidosis type 2 (GM1G2) [MIM:230600] VAR_037939 phenoCommon GM1-gangliosidosis type 3 (GM1G3) [MIM:230650] VAR_037940 commonName VAR_037940 VAR_037940 disease phenotype-associated VAR_037940 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_037942 commonName VAR_037942 VAR_037943 commonName VAR_037943 VAR_037943 disease phenotype-associated VAR_037943 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_037944 commonName VAR_037944 VAR_037944 disease phenotype-associated VAR_037944 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_037945 commonName VAR_037945 VAR_037946 commonName VAR_037946 VAR_037946 disease phenotype-associated VAR_037946 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_037947 commonName VAR_037947 VAR_037948 commonName VAR_037948 VAR_037948 disease phenotype-associated VAR_037948 phenoCommon Aicardi-Goutieres syndrome type 1 (AGS1) [MIM:225750] VAR_037948 phenoCommon Chilblain lupus type 1 (CHBL1) [MIM:610448] VAR_037949 commonName VAR_037949 VAR_037949 disease phenotype-associated VAR_037949 phenoCommon Systemic lupus erythematosus (SLE) [MIM:152700] VAR_037950 commonName VAR_037950 VAR_037950 disease phenotype-associated VAR_037950 phenoCommon Systemic lupus erythematosus (SLE) [MIM:152700] VAR_037951 commonName VAR_037951 VAR_037951 disease phenotype-associated VAR_037951 phenoCommon Systemic lupus erythematosus (SLE) [MIM:152700] VAR_037952 commonName VAR_037952 VAR_037952 disease phenotype-associated VAR_037952 phenoCommon Systemic lupus erythematosus (SLE) [MIM:152700] VAR_037953 commonName VAR_037953 VAR_037953 disease not phenotype-associated VAR_037954 commonName VAR_037954 VAR_037954 disease phenotype-associated VAR_037954 phenoCommon Systemic lupus erythematosus (SLE) [MIM:152700] VAR_037955 commonName VAR_037955 VAR_037955 disease phenotype-associated VAR_037955 phenoCommon Systemic lupus erythematosus (SLE) [MIM:152700] VAR_037956 commonName VAR_037956 VAR_037956 disease phenotype-associated VAR_037956 phenoCommon Systemic lupus erythematosus (SLE) [MIM:152700] VAR_037958 commonName VAR_037958 VAR_037958 disease not phenotype-associated VAR_037959 commonName VAR_037959 VAR_037959 disease not phenotype-associated VAR_037960 commonName VAR_037960 VAR_037960 disease not phenotype-associated VAR_037961 commonName VAR_037961 VAR_037962 commonName VAR_037962 VAR_037962 disease not phenotype-associated VAR_037963 commonName VAR_037963 VAR_037963 disease not phenotype-associated VAR_037964 commonName VAR_037964 VAR_037964 disease phenotype-associated VAR_037964 phenoCommon Deafness autosomal recessive type 3 (DFNB3) [MIM:600316] VAR_037966 commonName VAR_037966 VAR_037966 disease phenotype-associated VAR_037966 phenoCommon Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099] VAR_037967 commonName VAR_037967 VAR_037967 disease phenotype-associated VAR_037967 phenoCommon Brachydactyly type A2 (BDA2) [MIM:112600] VAR_037968 commonName VAR_037968 VAR_037968 disease phenotype-associated VAR_037968 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] VAR_037969 commonName VAR_037969 VAR_037969 disease not phenotype-associated VAR_037970 commonName VAR_037970 VAR_037970 disease phenotype-associated VAR_037970 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] VAR_037971 commonName VAR_037971 VAR_037971 disease phenotype-associated VAR_037971 phenoCommon High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091] VAR_037972 commonName VAR_037972 VAR_037972 disease not phenotype-associated VAR_037973 commonName VAR_037973 VAR_037973 disease not phenotype-associated VAR_037974 commonName VAR_037974 VAR_037974 disease not phenotype-associated VAR_037975 commonName VAR_037975 VAR_037975 disease not phenotype-associated VAR_037976 commonName VAR_037976 VAR_037976 disease phenotype-associated VAR_037976 phenoCommon Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110] VAR_037977 commonName VAR_037977 VAR_037977 disease not phenotype-associated VAR_037978 commonName VAR_037978 VAR_037978 disease phenotype-associated VAR_037978 phenoCommon Brachydactyly type C (BDC) [MIM:113100] VAR_037980 commonName VAR_037980 VAR_037980 disease phenotype-associated VAR_037980 phenoCommon Du Pan syndrome (DPS) [MIM:228900] VAR_037981 commonName VAR_037981 VAR_037981 disease phenotype-associated VAR_037981 phenoCommon Du Pan syndrome (DPS) [MIM:228900] VAR_037982 commonName VAR_037982 VAR_037982 disease phenotype-associated VAR_037982 phenoCommon Multiple synostoses syndrome type 2 (SYNS2) [MIM:610017] VAR_037983 commonName VAR_037983 VAR_037983 disease phenotype-associated VAR_037983 phenoCommon Symphalangism proximal syndrome (SYM1) [MIM:185800] VAR_037984 commonName VAR_037984 VAR_037984 disease not phenotype-associated VAR_037986 commonName VAR_037986 VAR_037986 disease not phenotype-associated VAR_037987 commonName VAR_037987 VAR_037987 disease not phenotype-associated VAR_037988 commonName VAR_037988 VAR_037988 disease not phenotype-associated VAR_037989 commonName VAR_037989 VAR_037989 disease not phenotype-associated VAR_037990 commonName VAR_037990 VAR_037990 disease not phenotype-associated VAR_037991 commonName VAR_037991 VAR_037991 disease not phenotype-associated VAR_037992 commonName VAR_037992 VAR_037992 disease not phenotype-associated VAR_037993 comment A breast cancer sample VAR_037993 commonName VAR_037993 VAR_037994 commonName VAR_037994 VAR_037994 disease not phenotype-associated VAR_037995 commonName VAR_037995 VAR_037995 disease not phenotype-associated VAR_037996 comment A breast cancer sample VAR_037996 commonName VAR_037996 VAR_037998 commonName VAR_037998 VAR_037999 commonName VAR_037999 VAR_038000 commonName VAR_038000 VAR_038000 disease not phenotype-associated VAR_038001 commonName VAR_038001 VAR_038001 disease not phenotype-associated VAR_038002 commonName VAR_038002 VAR_038002 disease not phenotype-associated VAR_038003 commonName VAR_038003 VAR_038003 disease not phenotype-associated VAR_038005 commonName VAR_038005 VAR_038006 commonName VAR_038006 VAR_038006 disease not phenotype-associated VAR_038007 commonName VAR_038007 VAR_038007 disease not phenotype-associated VAR_038008 commonName VAR_038008 VAR_038008 disease not phenotype-associated VAR_038009 commonName VAR_038009 VAR_038010 commonName VAR_038010 VAR_038010 disease not phenotype-associated VAR_038011 commonName VAR_038011 VAR_038011 disease not phenotype-associated VAR_038012 commonName VAR_038012 VAR_038012 disease phenotype-associated VAR_038012 phenoCommon Fanconi anemia (FA) [MIM:227650] VAR_038013 commonName VAR_038013 VAR_038013 disease phenotype-associated VAR_038013 phenoCommon Fanconi anemia (FA) [MIM:227650] VAR_038014 commonName VAR_038014 VAR_038014 disease not phenotype-associated VAR_038015 commonName VAR_038015 VAR_038015 disease phenotype-associated VAR_038015 phenoCommon Fanconi anemia (FA) [MIM:227650] VAR_038016 commonName VAR_038016 VAR_038016 disease phenotype-associated VAR_038016 phenoCommon Fanconi anemia (FA) [MIM:227650] VAR_038017 commonName VAR_038017 VAR_038017 disease not phenotype-associated VAR_038018 commonName VAR_038018 VAR_038018 disease not phenotype-associated VAR_038019 commonName VAR_038019 VAR_038019 disease phenotype-associated VAR_038019 phenoCommon Fanconi anemia (FA) [MIM:227650] VAR_038020 commonName VAR_038020 VAR_038021 commonName VAR_038021 VAR_038021 disease phenotype-associated VAR_038021 phenoCommon Fanconi anemia (FA) [MIM:227650] VAR_038022 commonName VAR_038022 VAR_038023 commonName VAR_038023 VAR_038023 disease not phenotype-associated VAR_038024 commonName VAR_038024 VAR_038025 commonName VAR_038025 VAR_038025 disease not phenotype-associated VAR_038026 commonName VAR_038026 VAR_038026 disease not phenotype-associated VAR_038027 commonName VAR_038027 VAR_038027 disease not phenotype-associated VAR_038032 commonName VAR_038032 VAR_038032 disease not phenotype-associated VAR_038033 commonName VAR_038033 VAR_038033 disease not phenotype-associated VAR_038034 commonName VAR_038034 VAR_038034 disease not phenotype-associated VAR_038035 commonName VAR_038035 VAR_038035 disease not phenotype-associated VAR_038036 commonName VAR_038036 VAR_038037 commonName VAR_038037 VAR_038037 disease not phenotype-associated VAR_038038 commonName VAR_038038 VAR_038038 disease not phenotype-associated VAR_038042 comment A colorectal cancer sample VAR_038042 commonName VAR_038042 VAR_038043 comment A colorectal cancer sample VAR_038043 commonName VAR_038043 VAR_038044 comment A colorectal cancer sample VAR_038044 commonName VAR_038044 VAR_038045 commonName VAR_038045 VAR_038045 disease not phenotype-associated VAR_038046 commonName VAR_038046 VAR_038046 disease not phenotype-associated VAR_038047 commonName VAR_038047 VAR_038047 disease not phenotype-associated VAR_038055 commonName VAR_038055 VAR_038055 disease not phenotype-associated VAR_038056 commonName VAR_038056 VAR_038056 disease not phenotype-associated VAR_038057 commonName VAR_038057 VAR_038057 disease not phenotype-associated VAR_038058 commonName VAR_038058 VAR_038058 disease not phenotype-associated VAR_038059 commonName VAR_038059 VAR_038059 disease not phenotype-associated VAR_038060 commonName VAR_038060 VAR_038060 disease not phenotype-associated VAR_038061 commonName VAR_038061 VAR_038061 disease not phenotype-associated VAR_038062 commonName VAR_038062 VAR_038062 disease not phenotype-associated VAR_038063 commonName VAR_038063 VAR_038063 disease not phenotype-associated VAR_038064 commonName VAR_038064 VAR_038064 disease not phenotype-associated VAR_038065 commonName VAR_038065 VAR_038065 disease not phenotype-associated VAR_038066 commonName VAR_038066 VAR_038066 disease not phenotype-associated VAR_038067 commonName VAR_038067 VAR_038067 disease not phenotype-associated VAR_038068 commonName VAR_038068 VAR_038068 disease not phenotype-associated VAR_038069 commonName VAR_038069 VAR_038069 disease not phenotype-associated VAR_038070 commonName VAR_038070 VAR_038070 disease not phenotype-associated VAR_038071 commonName VAR_038071 VAR_038071 disease not phenotype-associated VAR_038072 commonName VAR_038072 VAR_038072 disease not phenotype-associated VAR_038073 commonName VAR_038073 VAR_038073 disease not phenotype-associated VAR_038074 commonName VAR_038074 VAR_038074 disease not phenotype-associated VAR_038075 commonName VAR_038075 VAR_038075 disease not phenotype-associated VAR_038076 commonName VAR_038076 VAR_038076 disease not phenotype-associated VAR_038077 commonName VAR_038077 VAR_038077 disease not phenotype-associated VAR_038078 commonName VAR_038078 VAR_038078 disease not phenotype-associated VAR_038079 commonName VAR_038079 VAR_038079 disease not phenotype-associated VAR_038080 commonName VAR_038080 VAR_038080 disease not phenotype-associated VAR_038081 commonName VAR_038081 VAR_038081 disease not phenotype-associated VAR_038082 commonName VAR_038082 VAR_038082 disease not phenotype-associated VAR_038083 commonName VAR_038083 VAR_038083 disease not phenotype-associated VAR_038084 commonName VAR_038084 VAR_038084 disease not phenotype-associated VAR_038085 commonName VAR_038085 VAR_038085 disease not phenotype-associated VAR_038086 commonName VAR_038086 VAR_038086 disease not phenotype-associated VAR_038087 commonName VAR_038087 VAR_038087 disease not phenotype-associated VAR_038088 commonName VAR_038088 VAR_038088 disease not phenotype-associated VAR_038091 commonName VAR_038091 VAR_038091 disease not phenotype-associated VAR_038092 commonName VAR_038092 VAR_038092 disease not phenotype-associated VAR_038093 comment A colorectal cancer sample VAR_038093 commonName VAR_038093 VAR_038094 comment A colorectal cancer sample VAR_038094 commonName VAR_038094 VAR_038095 commonName VAR_038095 VAR_038095 disease not phenotype-associated VAR_038096 commonName VAR_038096 VAR_038096 disease not phenotype-associated VAR_038097 commonName VAR_038097 VAR_038097 disease not phenotype-associated VAR_038098 commonName VAR_038098 VAR_038098 disease not phenotype-associated VAR_038099 commonName VAR_038099 VAR_038099 disease not phenotype-associated VAR_038100 commonName VAR_038100 VAR_038100 disease not phenotype-associated VAR_038101 commonName VAR_038101 VAR_038101 disease not phenotype-associated VAR_038102 commonName VAR_038102 VAR_038102 disease not phenotype-associated VAR_038103 commonName VAR_038103 VAR_038103 disease not phenotype-associated VAR_038104 commonName VAR_038104 VAR_038104 disease phenotype-associated VAR_038104 phenoCommon Loose anagen hair syndrome (LAHS) [MIM:600628] VAR_038105 commonName VAR_038105 VAR_038105 disease not phenotype-associated VAR_038106 commonName VAR_038106 VAR_038106 disease not phenotype-associated VAR_038107 commonName VAR_038107 VAR_038107 disease not phenotype-associated VAR_038108 commonName VAR_038108 VAR_038108 disease not phenotype-associated VAR_038109 commonName VAR_038109 VAR_038109 disease not phenotype-associated VAR_038110 commonName VAR_038110 VAR_038110 disease not phenotype-associated VAR_038111 commonName VAR_038111 VAR_038111 disease not phenotype-associated VAR_038112 commonName VAR_038112 VAR_038112 disease not phenotype-associated VAR_038113 commonName VAR_038113 VAR_038113 disease not phenotype-associated VAR_038114 commonName VAR_038114 VAR_038114 disease not phenotype-associated VAR_038115 commonName VAR_038115 VAR_038115 disease not phenotype-associated VAR_038117 commonName VAR_038117 VAR_038117 disease not phenotype-associated VAR_038118 commonName VAR_038118 VAR_038118 disease not phenotype-associated VAR_038119 commonName VAR_038119 VAR_038119 disease not phenotype-associated VAR_038120 commonName VAR_038120 VAR_038120 disease not phenotype-associated VAR_038121 commonName VAR_038121 VAR_038121 disease not phenotype-associated VAR_038123 commonName VAR_038123 VAR_038123 disease not phenotype-associated VAR_038124 commonName VAR_038124 VAR_038124 disease not phenotype-associated VAR_038125 commonName VAR_038125 VAR_038125 disease not phenotype-associated VAR_038126 commonName VAR_038126 VAR_038126 disease not phenotype-associated VAR_038127 commonName VAR_038127 VAR_038127 disease not phenotype-associated VAR_038128 commonName VAR_038128 VAR_038128 disease not phenotype-associated VAR_038129 commonName VAR_038129 VAR_038129 disease not phenotype-associated VAR_038130 commonName VAR_038130 VAR_038130 disease not phenotype-associated VAR_038131 commonName VAR_038131 VAR_038131 disease not phenotype-associated VAR_038132 commonName VAR_038132 VAR_038132 disease not phenotype-associated VAR_038133 commonName VAR_038133 VAR_038133 disease not phenotype-associated VAR_038134 commonName VAR_038134 VAR_038134 disease not phenotype-associated VAR_038135 commonName VAR_038135 VAR_038135 disease not phenotype-associated VAR_038136 comment A breast cancer sample VAR_038136 commonName VAR_038136 VAR_038137 commonName VAR_038137 VAR_038137 disease not phenotype-associated VAR_038138 commonName VAR_038138 VAR_038138 disease not phenotype-associated VAR_038139 commonName VAR_038139 VAR_038139 disease not phenotype-associated VAR_038140 commonName VAR_038140 VAR_038140 disease not phenotype-associated VAR_038141 commonName VAR_038141 VAR_038141 disease not phenotype-associated VAR_038142 commonName VAR_038142 VAR_038142 disease not phenotype-associated VAR_038143 commonName VAR_038143 VAR_038143 disease not phenotype-associated VAR_038144 commonName VAR_038144 VAR_038144 disease not phenotype-associated VAR_038145 commonName VAR_038145 VAR_038145 disease not phenotype-associated VAR_038146 commonName VAR_038146 VAR_038146 disease not phenotype-associated VAR_038147 commonName VAR_038147 VAR_038147 disease not phenotype-associated VAR_038148 commonName VAR_038148 VAR_038148 disease not phenotype-associated VAR_038149 commonName VAR_038149 VAR_038150 commonName VAR_038150 VAR_038150 disease not phenotype-associated VAR_038151 commonName VAR_038151 VAR_038151 disease not phenotype-associated VAR_038152 commonName VAR_038152 VAR_038152 disease not phenotype-associated VAR_038153 commonName VAR_038153 VAR_038153 disease not phenotype-associated VAR_038158 commonName VAR_038158 VAR_038158 disease not phenotype-associated VAR_038159 commonName VAR_038159 VAR_038159 disease not phenotype-associated VAR_038160 commonName VAR_038160 VAR_038160 disease not phenotype-associated VAR_038161 commonName VAR_038161 VAR_038161 disease not phenotype-associated VAR_038166 commonName VAR_038166 VAR_038166 disease phenotype-associated VAR_038166 phenoCommon Farber lipogranulomatosis (FL) [MIM:228000] VAR_038167 commonName VAR_038167 VAR_038167 disease phenotype-associated VAR_038167 phenoCommon Farber lipogranulomatosis (FL) [MIM:228000] VAR_038168 commonName VAR_038168 VAR_038168 disease not phenotype-associated VAR_038169 commonName VAR_038169 VAR_038169 disease phenotype-associated VAR_038169 phenoCommon Farber lipogranulomatosis (FL) [MIM:228000] VAR_038170 commonName VAR_038170 VAR_038170 disease not phenotype-associated VAR_038171 commonName VAR_038171 VAR_038171 disease not phenotype-associated VAR_038172 commonName VAR_038172 VAR_038172 disease not phenotype-associated VAR_038173 commonName VAR_038173 VAR_038173 disease not phenotype-associated VAR_038174 commonName VAR_038174 VAR_038174 disease not phenotype-associated VAR_038175 commonName VAR_038175 VAR_038175 disease not phenotype-associated VAR_038176 commonName VAR_038176 VAR_038176 disease not phenotype-associated VAR_038177 commonName VAR_038177 VAR_038177 disease not phenotype-associated VAR_038178 commonName VAR_038178 VAR_038178 disease not phenotype-associated VAR_038179 commonName VAR_038179 VAR_038179 disease not phenotype-associated VAR_038180 commonName VAR_038180 VAR_038180 disease not phenotype-associated VAR_038181 commonName VAR_038181 VAR_038181 disease not phenotype-associated VAR_038182 commonName VAR_038182 VAR_038182 disease not phenotype-associated VAR_038183 commonName VAR_038183 VAR_038183 disease not phenotype-associated VAR_038184 commonName VAR_038184 VAR_038184 disease not phenotype-associated VAR_038185 commonName VAR_038185 VAR_038185 disease not phenotype-associated VAR_038186 commonName VAR_038186 VAR_038186 disease not phenotype-associated VAR_038187 commonName VAR_038187 VAR_038187 disease not phenotype-associated VAR_038188 commonName VAR_038188 VAR_038188 disease not phenotype-associated VAR_038190 commonName VAR_038190 VAR_038190 disease not phenotype-associated VAR_038193 commonName VAR_038193 VAR_038193 disease not phenotype-associated VAR_038194 commonName VAR_038194 VAR_038194 disease phenotype-associated VAR_038194 phenoCommon Visceral heterotaxy autosomal type 5 (HTX5) [MIM:270100] VAR_038195 commonName VAR_038195 VAR_038195 disease phenotype-associated VAR_038195 phenoCommon Atrial septal defect type 2 (ASD2) [MIM:607941] VAR_038197 commonName VAR_038197 VAR_038197 disease not phenotype-associated VAR_038198 commonName VAR_038198 VAR_038198 disease phenotype-associated VAR_038198 phenoCommon Tricho-rhino-phalangeal syndrome type 1 (TRPS1) [MIM:190350] VAR_038199 commonName VAR_038199 VAR_038199 disease phenotype-associated VAR_038199 phenoCommon Tricho-rhino-phalangeal syndrome type 1 (TRPS1) [MIM:190350] VAR_038200 commonName VAR_038200 VAR_038200 disease phenotype-associated VAR_038200 phenoCommon Cystinuria type 1 (CSNU1) [MIM:220100] VAR_038201 commonName VAR_038201 VAR_038201 disease phenotype-associated VAR_038201 phenoCommon Cystinuria type 1 (CSNU1) [MIM:220100] VAR_038202 commonName VAR_038202 VAR_038202 disease phenotype-associated VAR_038202 phenoCommon Cystinuria type 1 (CSNU1) [MIM:220100] VAR_038203 commonName VAR_038203 VAR_038203 disease phenotype-associated VAR_038203 phenoCommon Cystinuria type 1 (CSNU1) [MIM:220100] VAR_038210 commonName VAR_038210 VAR_038210 disease not phenotype-associated VAR_038211 commonName VAR_038211 VAR_038211 disease not phenotype-associated VAR_038212 commonName VAR_038212 VAR_038212 disease phenotype-associated VAR_038212 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038213 commonName VAR_038213 VAR_038213 disease phenotype-associated VAR_038213 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038214 commonName VAR_038214 VAR_038214 disease phenotype-associated VAR_038214 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038215 commonName VAR_038215 VAR_038215 disease phenotype-associated VAR_038215 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038215 phenoCommon Tetralogy of Fallot (TOF) [MIM:187500] VAR_038216 commonName VAR_038216 VAR_038216 disease phenotype-associated VAR_038216 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038216 phenoCommon Tetralogy of Fallot (TOF) [MIM:187500] VAR_038217 commonName VAR_038217 VAR_038217 disease phenotype-associated VAR_038217 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038218 commonName VAR_038218 VAR_038218 disease phenotype-associated VAR_038218 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038219 commonName VAR_038219 VAR_038219 disease phenotype-associated VAR_038219 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038220 commonName VAR_038220 VAR_038220 disease phenotype-associated VAR_038220 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038221 commonName VAR_038221 VAR_038221 disease phenotype-associated VAR_038221 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038222 commonName VAR_038222 VAR_038222 disease phenotype-associated VAR_038222 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038223 commonName VAR_038223 VAR_038223 disease phenotype-associated VAR_038223 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038224 commonName VAR_038224 VAR_038224 disease phenotype-associated VAR_038224 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038225 commonName VAR_038225 VAR_038225 disease phenotype-associated VAR_038225 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038226 commonName VAR_038226 VAR_038226 disease phenotype-associated VAR_038226 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038227 commonName VAR_038227 VAR_038227 disease phenotype-associated VAR_038227 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038228 commonName VAR_038228 VAR_038228 disease phenotype-associated VAR_038228 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038229 commonName VAR_038229 VAR_038229 disease phenotype-associated VAR_038229 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038230 commonName VAR_038230 VAR_038230 disease phenotype-associated VAR_038230 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038231 commonName VAR_038231 VAR_038231 disease phenotype-associated VAR_038231 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038232 commonName VAR_038232 VAR_038232 disease phenotype-associated VAR_038232 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038233 commonName VAR_038233 VAR_038233 disease phenotype-associated VAR_038233 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038234 commonName VAR_038234 VAR_038234 disease phenotype-associated VAR_038234 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038235 commonName VAR_038235 VAR_038235 disease phenotype-associated VAR_038235 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038236 commonName VAR_038236 VAR_038236 disease phenotype-associated VAR_038236 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038237 commonName VAR_038237 VAR_038237 disease phenotype-associated VAR_038237 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038238 commonName VAR_038238 VAR_038238 disease phenotype-associated VAR_038238 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038239 commonName VAR_038239 VAR_038239 disease phenotype-associated VAR_038239 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038239 phenoCommon Tetralogy of Fallot (TOF) [MIM:187500] VAR_038240 commonName VAR_038240 VAR_038240 disease phenotype-associated VAR_038240 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038240 phenoCommon Tetralogy of Fallot (TOF) [MIM:187500] VAR_038241 commonName VAR_038241 VAR_038241 disease phenotype-associated VAR_038241 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038242 commonName VAR_038242 VAR_038242 disease phenotype-associated VAR_038242 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038243 commonName VAR_038243 VAR_038243 disease phenotype-associated VAR_038243 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038244 commonName VAR_038244 VAR_038244 disease phenotype-associated VAR_038244 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038245 commonName VAR_038245 VAR_038245 disease phenotype-associated VAR_038245 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038246 commonName VAR_038246 VAR_038246 disease phenotype-associated VAR_038246 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038247 commonName VAR_038247 VAR_038247 disease phenotype-associated VAR_038247 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038248 commonName VAR_038248 VAR_038248 disease phenotype-associated VAR_038248 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038249 commonName VAR_038249 VAR_038249 disease phenotype-associated VAR_038249 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038250 commonName VAR_038250 VAR_038250 disease phenotype-associated VAR_038250 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038251 commonName VAR_038251 VAR_038251 disease phenotype-associated VAR_038251 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038252 commonName VAR_038252 VAR_038252 disease phenotype-associated VAR_038252 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038253 commonName VAR_038253 VAR_038253 disease phenotype-associated VAR_038253 phenoCommon Atrial septal defect type 7 with or without atrioventricular conduction defects (ASD7) [MIM:108900] VAR_038253 phenoCommon Tetralogy of Fallot (TOF) [MIM:187500] VAR_038254 commonName VAR_038254 VAR_038254 disease not phenotype-associated VAR_038255 commonName VAR_038255 VAR_038255 disease not phenotype-associated VAR_038257 commonName VAR_038257 VAR_038257 disease not phenotype-associated VAR_038258 commonName VAR_038258 VAR_038258 disease not phenotype-associated VAR_038259 commonName VAR_038259 VAR_038259 disease not phenotype-associated VAR_038260 commonName VAR_038260 VAR_038260 disease not phenotype-associated VAR_038261 commonName VAR_038261 VAR_038261 disease not phenotype-associated VAR_038262 commonName VAR_038262 VAR_038262 disease not phenotype-associated VAR_038263 commonName VAR_038263 VAR_038263 disease not phenotype-associated VAR_038264 commonName VAR_038264 VAR_038264 disease not phenotype-associated VAR_038265 commonName VAR_038265 VAR_038265 disease not phenotype-associated VAR_038268 commonName VAR_038268 VAR_038268 disease not phenotype-associated VAR_038269 commonName VAR_038269 VAR_038269 disease not phenotype-associated VAR_038270 commonName VAR_038270 VAR_038270 disease not phenotype-associated VAR_038271 commonName VAR_038271 VAR_038271 disease not phenotype-associated VAR_038272 commonName VAR_038272 VAR_038272 disease not phenotype-associated VAR_038273 commonName VAR_038273 VAR_038273 disease not phenotype-associated VAR_038274 commonName VAR_038274 VAR_038274 disease not phenotype-associated VAR_038275 commonName VAR_038275 VAR_038275 disease not phenotype-associated VAR_038276 commonName VAR_038276 VAR_038276 disease not phenotype-associated VAR_038277 commonName VAR_038277 VAR_038277 disease not phenotype-associated VAR_038278 commonName VAR_038278 VAR_038278 disease not phenotype-associated VAR_038279 commonName VAR_038279 VAR_038279 disease not phenotype-associated VAR_038280 commonName VAR_038280 VAR_038280 disease not phenotype-associated VAR_038281 commonName VAR_038281 VAR_038281 disease not phenotype-associated VAR_038282 commonName VAR_038282 VAR_038282 disease not phenotype-associated VAR_038283 commonName VAR_038283 VAR_038283 disease not phenotype-associated VAR_038284 commonName VAR_038284 VAR_038284 disease not phenotype-associated VAR_038285 commonName VAR_038285 VAR_038285 disease not phenotype-associated VAR_038286 commonName VAR_038286 VAR_038286 disease not phenotype-associated VAR_038287 commonName VAR_038287 VAR_038287 disease not phenotype-associated VAR_038288 commonName VAR_038288 VAR_038288 disease not phenotype-associated VAR_038289 commonName VAR_038289 VAR_038289 disease not phenotype-associated VAR_038290 commonName VAR_038290 VAR_038290 disease not phenotype-associated VAR_038291 commonName VAR_038291 VAR_038291 disease not phenotype-associated VAR_038294 commonName VAR_038294 VAR_038294 disease not phenotype-associated VAR_038295 commonName VAR_038295 VAR_038295 disease not phenotype-associated VAR_038296 commonName VAR_038296 VAR_038296 disease not phenotype-associated VAR_038297 commonName VAR_038297 VAR_038297 disease not phenotype-associated VAR_038298 commonName VAR_038298 VAR_038298 disease not phenotype-associated VAR_038299 commonName VAR_038299 VAR_038299 disease not phenotype-associated VAR_038300 commonName VAR_038300 VAR_038300 disease not phenotype-associated VAR_038301 comment A colorectal cancer sample VAR_038301 commonName VAR_038301 VAR_038303 commonName VAR_038303 VAR_038303 disease not phenotype-associated VAR_038304 commonName VAR_038304 VAR_038304 disease not phenotype-associated VAR_038305 commonName VAR_038305 VAR_038305 disease not phenotype-associated VAR_038306 commonName VAR_038306 VAR_038306 disease not phenotype-associated VAR_038307 commonName VAR_038307 VAR_038307 disease not phenotype-associated VAR_038309 commonName VAR_038309 VAR_038309 disease not phenotype-associated VAR_038314 commonName VAR_038314 VAR_038314 disease not phenotype-associated VAR_038317 commonName VAR_038317 VAR_038317 disease not phenotype-associated VAR_038318 commonName VAR_038318 VAR_038318 disease not phenotype-associated VAR_038325 commonName VAR_038325 VAR_038325 disease not phenotype-associated VAR_038326 commonName VAR_038326 VAR_038326 disease not phenotype-associated VAR_038327 commonName VAR_038327 VAR_038327 disease not phenotype-associated VAR_038328 commonName VAR_038328 VAR_038328 disease not phenotype-associated VAR_038329 commonName VAR_038329 VAR_038329 disease not phenotype-associated VAR_038330 commonName VAR_038330 VAR_038330 disease not phenotype-associated VAR_038331 commonName VAR_038331 VAR_038331 disease not phenotype-associated VAR_038332 commonName VAR_038332 VAR_038332 disease not phenotype-associated VAR_038333 commonName VAR_038333 VAR_038333 disease not phenotype-associated VAR_038334 commonName VAR_038334 VAR_038334 disease phenotype-associated VAR_038334 phenoCommon Spermatogenic failure type 6 (SPGF6) [MIM:102530] VAR_038335 commonName VAR_038335 VAR_038335 disease not phenotype-associated VAR_038336 commonName VAR_038336 VAR_038336 disease not phenotype-associated VAR_038337 commonName VAR_038337 VAR_038337 disease not phenotype-associated VAR_038338 commonName VAR_038338 VAR_038338 disease not phenotype-associated VAR_038339 commonName VAR_038339 VAR_038339 disease not phenotype-associated VAR_038340 commonName VAR_038340 VAR_038340 disease not phenotype-associated VAR_038341 commonName VAR_038341 VAR_038341 disease not phenotype-associated VAR_038342 commonName VAR_038342 VAR_038342 disease not phenotype-associated VAR_038343 commonName VAR_038343 VAR_038343 disease not phenotype-associated VAR_038344 commonName VAR_038344 VAR_038344 disease not phenotype-associated VAR_038345 commonName VAR_038345 VAR_038345 disease not phenotype-associated VAR_038346 commonName VAR_038346 VAR_038346 disease phenotype-associated VAR_038346 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_038347 commonName VAR_038347 VAR_038347 disease not phenotype-associated VAR_038348 commonName VAR_038348 VAR_038348 disease not phenotype-associated VAR_038349 commonName VAR_038349 VAR_038349 disease not phenotype-associated VAR_038350 commonName VAR_038350 VAR_038350 disease not phenotype-associated VAR_038351 commonName VAR_038351 VAR_038351 disease not phenotype-associated VAR_038354 commonName VAR_038354 VAR_038354 disease not phenotype-associated VAR_038355 commonName VAR_038355 VAR_038355 disease not phenotype-associated VAR_038356 commonName VAR_038356 VAR_038356 disease phenotype-associated VAR_038356 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_038357 commonName VAR_038357 VAR_038357 disease phenotype-associated VAR_038357 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_038358 commonName VAR_038358 VAR_038358 disease phenotype-associated VAR_038358 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_038359 commonName VAR_038359 VAR_038359 disease phenotype-associated VAR_038359 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_038360 commonName VAR_038360 VAR_038360 disease phenotype-associated VAR_038360 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_038361 commonName VAR_038361 VAR_038361 disease phenotype-associated VAR_038361 phenoCommon Syndactyly type 3 (SDTY3) [MIM:186100] VAR_038362 commonName VAR_038362 VAR_038362 disease not phenotype-associated VAR_038363 commonName VAR_038363 VAR_038363 disease not phenotype-associated VAR_038364 commonName VAR_038364 VAR_038364 disease not phenotype-associated VAR_038365 commonName VAR_038365 VAR_038365 disease not phenotype-associated VAR_038366 commonName VAR_038366 VAR_038366 disease not phenotype-associated VAR_038367 commonName VAR_038367 VAR_038367 disease not phenotype-associated VAR_038368 commonName VAR_038368 VAR_038368 disease not phenotype-associated VAR_038369 commonName VAR_038369 VAR_038369 disease phenotype-associated VAR_038369 phenoCommon Retinitis pigmentosa type 39 (RP39) [MIM:613809] VAR_038370 commonName VAR_038370 VAR_038370 disease not phenotype-associated VAR_038371 commonName VAR_038371 VAR_038371 disease not phenotype-associated VAR_038372 commonName VAR_038372 VAR_038372 disease not phenotype-associated VAR_038373 commonName VAR_038373 VAR_038373 disease not phenotype-associated VAR_038374 commonName VAR_038374 VAR_038375 commonName VAR_038375 VAR_038375 disease phenotype-associated VAR_038375 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219] VAR_038376 commonName VAR_038376 VAR_038376 disease not phenotype-associated VAR_038377 commonName VAR_038377 VAR_038377 disease not phenotype-associated VAR_038378 commonName VAR_038378 VAR_038378 disease not phenotype-associated VAR_038379 commonName VAR_038379 VAR_038379 disease not phenotype-associated VAR_038380 commonName VAR_038380 VAR_038380 disease phenotype-associated VAR_038380 phenoCommon Mucolipidosis type IV (MLIV) [MIM:252650] VAR_038381 commonName VAR_038381 VAR_038381 disease not phenotype-associated VAR_038382 commonName VAR_038382 VAR_038382 disease not phenotype-associated VAR_038383 commonName VAR_038383 VAR_038383 disease not phenotype-associated VAR_038384 commonName VAR_038384 VAR_038384 disease not phenotype-associated VAR_038385 commonName VAR_038385 VAR_038385 disease not phenotype-associated VAR_038389 commonName VAR_038389 VAR_038389 disease not phenotype-associated VAR_038390 commonName VAR_038390 VAR_038390 disease not phenotype-associated VAR_038391 commonName VAR_038391 VAR_038391 disease not phenotype-associated VAR_038392 commonName VAR_038392 VAR_038392 disease not phenotype-associated VAR_038393 commonName VAR_038393 VAR_038393 disease not phenotype-associated VAR_038394 commonName VAR_038394 VAR_038394 disease not phenotype-associated VAR_038395 commonName VAR_038395 VAR_038395 disease not phenotype-associated VAR_038396 commonName VAR_038396 VAR_038396 disease not phenotype-associated VAR_038397 commonName VAR_038397 VAR_038397 disease not phenotype-associated VAR_038398 commonName VAR_038398 VAR_038398 disease not phenotype-associated VAR_038399 comment A colorectal cancer sample VAR_038399 commonName VAR_038399 VAR_038400 commonName VAR_038400 VAR_038400 disease not phenotype-associated VAR_038401 commonName VAR_038401 VAR_038401 disease not phenotype-associated VAR_038402 commonName VAR_038402 VAR_038402 disease not phenotype-associated VAR_038403 commonName VAR_038403 VAR_038403 disease not phenotype-associated VAR_038404 commonName VAR_038404 VAR_038404 disease not phenotype-associated VAR_038405 commonName VAR_038405 VAR_038405 disease not phenotype-associated VAR_038406 commonName VAR_038406 VAR_038406 disease not phenotype-associated VAR_038407 commonName VAR_038407 VAR_038407 disease not phenotype-associated VAR_038408 commonName VAR_038408 VAR_038408 disease not phenotype-associated VAR_038409 commonName VAR_038409 VAR_038409 disease not phenotype-associated VAR_038410 commonName VAR_038410 VAR_038410 disease not phenotype-associated VAR_038411 commonName VAR_038411 VAR_038411 disease not phenotype-associated VAR_038412 commonName VAR_038412 VAR_038412 disease not phenotype-associated VAR_038414 commonName VAR_038414 VAR_038414 disease not phenotype-associated VAR_038415 commonName VAR_038415 VAR_038415 disease not phenotype-associated VAR_038416 commonName VAR_038416 VAR_038416 disease not phenotype-associated VAR_038417 commonName VAR_038417 VAR_038417 disease not phenotype-associated VAR_038418 commonName VAR_038418 VAR_038418 disease phenotype-associated VAR_038418 phenoCommon Holoprosencephaly type 2 (HPE2) [MIM:157170] VAR_038419 commonName VAR_038419 VAR_038419 disease not phenotype-associated VAR_038420 commonName VAR_038420 VAR_038420 disease phenotype-associated VAR_038420 phenoCommon Chorea-acanthocytosis (CHAC) [MIM:200150] VAR_038421 commonName VAR_038421 VAR_038421 disease phenotype-associated VAR_038421 phenoCommon Chorea-acanthocytosis (CHAC) [MIM:200150] VAR_038422 commonName VAR_038422 VAR_038422 disease phenotype-associated VAR_038422 phenoCommon Cohen syndrome (COH1) [MIM:216550] VAR_038423 commonName VAR_038423 VAR_038423 disease phenotype-associated VAR_038423 phenoCommon Cohen syndrome (COH1) [MIM:216550] VAR_038424 commonName VAR_038424 VAR_038424 disease phenotype-associated VAR_038424 phenoCommon Cohen syndrome (COH1) [MIM:216550] VAR_038425 commonName VAR_038425 VAR_038425 disease not phenotype-associated VAR_038426 commonName VAR_038426 VAR_038426 disease not phenotype-associated VAR_038428 commonName VAR_038428 VAR_038428 disease phenotype-associated VAR_038428 phenoCommon Congenital disorder of glycosylation type 1G (CDG1G) [MIM:607143] VAR_038429 commonName VAR_038429 VAR_038429 disease not phenotype-associated VAR_038430 commonName VAR_038430 VAR_038430 disease not phenotype-associated VAR_038431 commonName VAR_038431 VAR_038431 disease not phenotype-associated VAR_038432 commonName VAR_038432 VAR_038432 disease not phenotype-associated VAR_038433 commonName VAR_038433 VAR_038433 disease not phenotype-associated VAR_038434 commonName VAR_038434 VAR_038434 disease not phenotype-associated VAR_038435 commonName VAR_038435 VAR_038435 disease not phenotype-associated VAR_038438 commonName VAR_038438 VAR_038438 disease not phenotype-associated VAR_038439 commonName VAR_038439 VAR_038439 disease not phenotype-associated VAR_038440 commonName VAR_038440 VAR_038440 disease not phenotype-associated VAR_038441 commonName VAR_038441 VAR_038441 disease not phenotype-associated VAR_038442 comment A breast cancer sample VAR_038442 commonName VAR_038442 VAR_038443 commonName VAR_038443 VAR_038443 disease not phenotype-associated VAR_038444 commonName VAR_038444 VAR_038444 disease not phenotype-associated VAR_038445 commonName VAR_038445 VAR_038445 disease not phenotype-associated VAR_038446 commonName VAR_038446 VAR_038446 disease not phenotype-associated VAR_038447 comment A breast cancer sample VAR_038447 commonName VAR_038447 VAR_038448 commonName VAR_038448 VAR_038448 disease not phenotype-associated VAR_038449 commonName VAR_038449 VAR_038449 disease not phenotype-associated VAR_038450 commonName VAR_038450 VAR_038450 disease not phenotype-associated VAR_038451 commonName VAR_038451 VAR_038451 disease not phenotype-associated VAR_038452 commonName VAR_038452 VAR_038452 disease not phenotype-associated VAR_038453 commonName VAR_038453 VAR_038453 disease not phenotype-associated VAR_038454 commonName VAR_038454 VAR_038454 disease not phenotype-associated VAR_038455 commonName VAR_038455 VAR_038455 disease not phenotype-associated VAR_038456 commonName VAR_038456 VAR_038456 disease not phenotype-associated VAR_038457 commonName VAR_038457 VAR_038457 disease not phenotype-associated VAR_038458 commonName VAR_038458 VAR_038458 disease not phenotype-associated VAR_038459 commonName VAR_038459 VAR_038459 disease not phenotype-associated VAR_038460 commonName VAR_038460 VAR_038460 disease not phenotype-associated VAR_038461 commonName VAR_038461 VAR_038461 disease not phenotype-associated VAR_038462 commonName VAR_038462 VAR_038462 disease not phenotype-associated VAR_038463 commonName VAR_038463 VAR_038463 disease not phenotype-associated VAR_038464 commonName VAR_038464 VAR_038464 disease not phenotype-associated VAR_038465 commonName VAR_038465 VAR_038465 disease not phenotype-associated VAR_038466 commonName VAR_038466 VAR_038466 disease not phenotype-associated VAR_038467 commonName VAR_038467 VAR_038467 disease not phenotype-associated VAR_038468 commonName VAR_038468 VAR_038468 disease not phenotype-associated VAR_038469 commonName VAR_038469 VAR_038469 disease not phenotype-associated VAR_038470 commonName VAR_038470 VAR_038470 disease not phenotype-associated VAR_038471 commonName VAR_038471 VAR_038471 disease not phenotype-associated VAR_038472 commonName VAR_038472 VAR_038472 disease not phenotype-associated VAR_038473 commonName VAR_038473 VAR_038473 disease not phenotype-associated VAR_038476 commonName VAR_038476 VAR_038476 disease not phenotype-associated VAR_038477 commonName VAR_038477 VAR_038477 disease not phenotype-associated VAR_038480 commonName VAR_038480 VAR_038480 disease not phenotype-associated VAR_038482 commonName VAR_038482 VAR_038482 disease phenotype-associated VAR_038482 phenoCommon Cutis laxa, autosomal recessive, type 3A (ARCL3A) [MIM:219150] VAR_038483 commonName VAR_038483 VAR_038483 disease not phenotype-associated VAR_038484 commonName VAR_038484 VAR_038484 disease not phenotype-associated VAR_038485 commonName VAR_038485 VAR_038485 disease not phenotype-associated VAR_038486 commonName VAR_038486 VAR_038486 disease not phenotype-associated VAR_038487 commonName VAR_038487 VAR_038487 disease not phenotype-associated VAR_038489 commonName VAR_038489 VAR_038489 disease not phenotype-associated VAR_038490 commonName VAR_038490 VAR_038490 disease not phenotype-associated VAR_038491 commonName VAR_038491 VAR_038491 disease not phenotype-associated VAR_038492 commonName VAR_038492 VAR_038492 disease not phenotype-associated VAR_038493 commonName VAR_038493 VAR_038493 disease not phenotype-associated VAR_038494 commonName VAR_038494 VAR_038494 disease not phenotype-associated VAR_038495 commonName VAR_038495 VAR_038495 disease not phenotype-associated VAR_038496 commonName VAR_038496 VAR_038496 disease not phenotype-associated VAR_038497 commonName VAR_038497 VAR_038497 disease not phenotype-associated VAR_038498 commonName VAR_038498 VAR_038498 disease not phenotype-associated VAR_038499 commonName VAR_038499 VAR_038499 disease not phenotype-associated VAR_038500 commonName VAR_038500 VAR_038500 disease not phenotype-associated VAR_038501 commonName VAR_038501 VAR_038501 disease not phenotype-associated VAR_038502 commonName VAR_038502 VAR_038502 disease not phenotype-associated VAR_038503 commonName VAR_038503 VAR_038503 disease not phenotype-associated VAR_038506 commonName VAR_038506 VAR_038506 disease not phenotype-associated VAR_038507 commonName VAR_038507 VAR_038507 disease not phenotype-associated VAR_038508 commonName VAR_038508 VAR_038508 disease not phenotype-associated VAR_038509 commonName VAR_038509 VAR_038509 disease not phenotype-associated VAR_038510 commonName VAR_038510 VAR_038510 disease not phenotype-associated VAR_038511 commonName VAR_038511 VAR_038511 disease not phenotype-associated VAR_038512 commonName VAR_038512 VAR_038512 disease not phenotype-associated VAR_038513 commonName VAR_038513 VAR_038513 disease not phenotype-associated VAR_038514 commonName VAR_038514 VAR_038514 disease not phenotype-associated VAR_038515 commonName VAR_038515 VAR_038515 disease not phenotype-associated VAR_038516 commonName VAR_038516 VAR_038516 disease not phenotype-associated VAR_038517 commonName VAR_038517 VAR_038517 disease not phenotype-associated VAR_038518 commonName VAR_038518 VAR_038518 disease not phenotype-associated VAR_038519 commonName VAR_038519 VAR_038519 disease not phenotype-associated VAR_038520 commonName VAR_038520 VAR_038520 disease not phenotype-associated VAR_038521 commonName VAR_038521 VAR_038521 disease not phenotype-associated VAR_038522 commonName VAR_038522 VAR_038522 disease not phenotype-associated VAR_038523 commonName VAR_038523 VAR_038523 disease not phenotype-associated VAR_038524 commonName VAR_038524 VAR_038524 disease not phenotype-associated VAR_038525 commonName VAR_038525 VAR_038525 disease not phenotype-associated VAR_038526 commonName VAR_038526 VAR_038526 disease not phenotype-associated VAR_038527 commonName VAR_038527 VAR_038527 disease not phenotype-associated VAR_038529 commonName VAR_038529 VAR_038529 disease not phenotype-associated VAR_038530 commonName VAR_038530 VAR_038530 disease not phenotype-associated VAR_038531 commonName VAR_038531 VAR_038531 disease not phenotype-associated VAR_038532 commonName VAR_038532 VAR_038532 disease not phenotype-associated VAR_038533 commonName VAR_038533 VAR_038533 disease not phenotype-associated VAR_038542 commonName VAR_038542 VAR_038542 disease not phenotype-associated VAR_038543 commonName VAR_038543 VAR_038543 disease not phenotype-associated VAR_038544 commonName VAR_038544 VAR_038544 disease not phenotype-associated VAR_038546 comment A colorectal cancer sample VAR_038546 commonName VAR_038546 VAR_038547 commonName VAR_038547 VAR_038547 disease not phenotype-associated VAR_038548 commonName VAR_038548 VAR_038548 disease not phenotype-associated VAR_038549 commonName VAR_038549 VAR_038549 disease not phenotype-associated VAR_038552 comment A breast cancer sample VAR_038552 commonName VAR_038552 VAR_038553 commonName VAR_038553 VAR_038553 disease not phenotype-associated VAR_038554 commonName VAR_038554 VAR_038554 disease not phenotype-associated VAR_038555 commonName VAR_038555 VAR_038555 disease not phenotype-associated VAR_038556 commonName VAR_038556 VAR_038556 disease not phenotype-associated VAR_038557 commonName VAR_038557 VAR_038557 disease not phenotype-associated VAR_038562 commonName VAR_038562 VAR_038562 disease not phenotype-associated VAR_038563 commonName VAR_038563 VAR_038563 disease not phenotype-associated VAR_038564 commonName VAR_038564 VAR_038564 disease not phenotype-associated VAR_038566 commonName VAR_038566 VAR_038566 disease not phenotype-associated VAR_038567 commonName VAR_038567 VAR_038567 disease not phenotype-associated VAR_038568 commonName VAR_038568 VAR_038568 disease not phenotype-associated VAR_038569 commonName VAR_038569 VAR_038569 disease not phenotype-associated VAR_038570 commonName VAR_038570 VAR_038570 disease not phenotype-associated VAR_038571 commonName VAR_038571 VAR_038571 disease not phenotype-associated VAR_038572 commonName VAR_038572 VAR_038572 disease not phenotype-associated VAR_038573 commonName VAR_038573 VAR_038573 disease not phenotype-associated VAR_038574 commonName VAR_038574 VAR_038574 disease not phenotype-associated VAR_038575 commonName VAR_038575 VAR_038575 disease not phenotype-associated VAR_038576 commonName VAR_038576 VAR_038576 disease not phenotype-associated VAR_038578 commonName VAR_038578 VAR_038578 disease not phenotype-associated VAR_038579 commonName VAR_038579 VAR_038579 disease not phenotype-associated VAR_038580 commonName VAR_038580 VAR_038580 disease not phenotype-associated VAR_038581 commonName VAR_038581 VAR_038581 disease not phenotype-associated VAR_038582 commonName VAR_038582 VAR_038582 disease not phenotype-associated VAR_038583 commonName VAR_038583 VAR_038583 disease not phenotype-associated VAR_038584 commonName VAR_038584 VAR_038584 disease not phenotype-associated VAR_038585 commonName VAR_038585 VAR_038585 disease not phenotype-associated VAR_038586 commonName VAR_038586 VAR_038586 disease not phenotype-associated VAR_038587 commonName VAR_038587 VAR_038587 disease not phenotype-associated VAR_038588 commonName VAR_038588 VAR_038588 disease not phenotype-associated VAR_038589 commonName VAR_038589 VAR_038589 disease not phenotype-associated VAR_038590 commonName VAR_038590 VAR_038590 disease not phenotype-associated VAR_038591 commonName VAR_038591 VAR_038591 disease not phenotype-associated VAR_038592 commonName VAR_038592 VAR_038592 disease not phenotype-associated VAR_038593 commonName VAR_038593 VAR_038593 disease not phenotype-associated VAR_038594 commonName VAR_038594 VAR_038594 disease not phenotype-associated VAR_038595 commonName VAR_038595 VAR_038595 disease not phenotype-associated VAR_038596 commonName VAR_038596 VAR_038596 disease not phenotype-associated VAR_038597 commonName VAR_038597 VAR_038597 disease not phenotype-associated VAR_038598 commonName VAR_038598 VAR_038598 disease not phenotype-associated VAR_038599 commonName VAR_038599 VAR_038599 disease phenotype-associated VAR_038599 phenoCommon Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930] VAR_038600 commonName VAR_038600 VAR_038600 disease not phenotype-associated VAR_038601 commonName VAR_038601 VAR_038601 disease phenotype-associated VAR_038601 phenoCommon Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462] VAR_038602 commonName VAR_038602 VAR_038602 disease phenotype-associated VAR_038602 phenoCommon Familial febrile convulsions type 8 (FEB8) [MIM:611277] VAR_038604 commonName VAR_038604 VAR_038604 disease not phenotype-associated VAR_038605 commonName VAR_038605 VAR_038605 disease phenotype-associated VAR_038605 phenoCommon Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210] VAR_038606 commonName VAR_038606 VAR_038606 disease not phenotype-associated VAR_038607 commonName VAR_038607 VAR_038607 disease not phenotype-associated VAR_038608 commonName VAR_038608 VAR_038608 disease not phenotype-associated VAR_038609 commonName VAR_038609 VAR_038610 commonName VAR_038610 VAR_038611 commonName VAR_038611 VAR_038612 commonName VAR_038612 VAR_038612 disease not phenotype-associated VAR_038613 commonName VAR_038613 VAR_038614 commonName VAR_038614 VAR_038615 commonName VAR_038615 VAR_038615 disease not phenotype-associated VAR_038616 commonName VAR_038616 VAR_038616 disease not phenotype-associated VAR_038617 commonName VAR_038617 VAR_038617 disease not phenotype-associated VAR_038619 commonName VAR_038619 VAR_038620 commonName VAR_038620 VAR_038620 disease not phenotype-associated VAR_038621 commonName VAR_038621 VAR_038623 commonName VAR_038623 VAR_038624 commonName VAR_038624 VAR_038625 commonName VAR_038625 VAR_038626 commonName VAR_038626 VAR_038626 disease not phenotype-associated VAR_038628 commonName VAR_038628 VAR_038628 disease not phenotype-associated VAR_038630 commonName VAR_038630 VAR_038630 disease not phenotype-associated VAR_038631 commonName VAR_038631 VAR_038631 disease not phenotype-associated VAR_038632 commonName VAR_038632 VAR_038632 disease phenotype-associated VAR_038632 phenoCommon Obesity (OBESITY) [MIM:601665] VAR_038633 commonName VAR_038633 VAR_038633 disease phenotype-associated VAR_038633 phenoCommon Obesity (OBESITY) [MIM:601665] VAR_038634 commonName VAR_038634 VAR_038634 disease phenotype-associated VAR_038634 phenoCommon Obesity (OBESITY) [MIM:601665] VAR_038635 commonName VAR_038635 VAR_038635 disease phenotype-associated VAR_038635 phenoCommon Obesity (OBESITY) [MIM:601665] VAR_038636 commonName VAR_038636 VAR_038636 disease phenotype-associated VAR_038636 phenoCommon Obesity (OBESITY) [MIM:601665] VAR_038638 commonName VAR_038638 VAR_038638 disease phenotype-associated VAR_038638 phenoCommon Obesity (OBESITY) [MIM:601665] VAR_038639 commonName VAR_038639 VAR_038639 disease phenotype-associated VAR_038639 phenoCommon Obesity (OBESITY) [MIM:601665] VAR_038640 commonName VAR_038640 VAR_038640 disease phenotype-associated VAR_038640 phenoCommon Obesity (OBESITY) [MIM:601665] VAR_038641 commonName VAR_038641 VAR_038641 disease phenotype-associated VAR_038641 phenoCommon Obesity (OBESITY) [MIM:601665] VAR_038642 commonName VAR_038642 VAR_038642 disease phenotype-associated VAR_038642 phenoCommon Obesity (OBESITY) [MIM:601665] VAR_038643 commonName VAR_038643 VAR_038643 disease phenotype-associated VAR_038643 phenoCommon Obesity (OBESITY) [MIM:601665] VAR_038644 commonName VAR_038644 VAR_038644 disease phenotype-associated VAR_038644 phenoCommon Obesity (OBESITY) [MIM:601665] VAR_038645 commonName VAR_038645 VAR_038645 disease phenotype-associated VAR_038645 phenoCommon Obesity (OBESITY) [MIM:601665] VAR_038646 commonName VAR_038646 VAR_038646 disease phenotype-associated VAR_038646 phenoCommon Obesity (OBESITY) [MIM:601665] VAR_038647 commonName VAR_038647 VAR_038647 disease phenotype-associated VAR_038647 phenoCommon Obesity (OBESITY) [MIM:601665] VAR_038648 commonName VAR_038648 VAR_038648 disease phenotype-associated VAR_038648 phenoCommon Obesity (OBESITY) [MIM:601665] VAR_038649 commonName VAR_038649 VAR_038649 disease not phenotype-associated VAR_038650 commonName VAR_038650 VAR_038650 disease phenotype-associated VAR_038650 phenoCommon Obesity (OBESITY) [MIM:601665] VAR_038651 commonName VAR_038651 VAR_038651 disease phenotype-associated VAR_038651 phenoCommon Obesity (OBESITY) [MIM:601665] VAR_038652 commonName VAR_038652 VAR_038652 disease phenotype-associated VAR_038652 phenoCommon Obesity (OBESITY) [MIM:601665] VAR_038653 commonName VAR_038653 VAR_038653 disease phenotype-associated VAR_038653 phenoCommon Obesity (OBESITY) [MIM:601665] VAR_038654 commonName VAR_038654 VAR_038654 disease phenotype-associated VAR_038654 phenoCommon Obesity (OBESITY) [MIM:601665] VAR_038655 commonName VAR_038655 VAR_038655 disease not phenotype-associated VAR_038656 commonName VAR_038656 VAR_038656 disease not phenotype-associated VAR_038657 commonName VAR_038657 VAR_038657 disease not phenotype-associated VAR_038658 commonName VAR_038658 VAR_038658 disease not phenotype-associated VAR_038659 commonName VAR_038659 VAR_038659 disease not phenotype-associated VAR_038660 commonName VAR_038660 VAR_038660 disease not phenotype-associated VAR_038661 commonName VAR_038661 VAR_038661 disease not phenotype-associated VAR_038662 commonName VAR_038662 VAR_038662 disease not phenotype-associated VAR_038663 commonName VAR_038663 VAR_038663 disease not phenotype-associated VAR_038664 commonName VAR_038664 VAR_038664 disease not phenotype-associated VAR_038665 commonName VAR_038665 VAR_038665 disease not phenotype-associated VAR_038668 commonName VAR_038668 VAR_038668 disease not phenotype-associated VAR_038669 commonName VAR_038669 VAR_038669 disease not phenotype-associated VAR_038670 commonName VAR_038670 VAR_038670 disease not phenotype-associated VAR_038671 commonName VAR_038671 VAR_038671 disease not phenotype-associated VAR_038672 commonName VAR_038672 VAR_038672 disease not phenotype-associated VAR_038673 commonName VAR_038673 VAR_038673 disease not phenotype-associated VAR_038674 commonName VAR_038674 VAR_038674 disease not phenotype-associated VAR_038675 commonName VAR_038675 VAR_038675 disease not phenotype-associated VAR_038676 commonName VAR_038676 VAR_038676 disease not phenotype-associated VAR_038677 commonName VAR_038677 VAR_038677 disease not phenotype-associated VAR_038678 commonName VAR_038678 VAR_038678 disease not phenotype-associated VAR_038679 commonName VAR_038679 VAR_038679 disease not phenotype-associated VAR_038680 commonName VAR_038680 VAR_038680 disease not phenotype-associated VAR_038681 commonName VAR_038681 VAR_038681 disease not phenotype-associated VAR_038682 commonName VAR_038682 VAR_038682 disease not phenotype-associated VAR_038685 comment A breast cancer sample VAR_038685 commonName VAR_038685 VAR_038686 comment A breast cancer sample VAR_038686 commonName VAR_038686 VAR_038687 commonName VAR_038687 VAR_038687 disease not phenotype-associated VAR_038689 commonName VAR_038689 VAR_038689 disease not phenotype-associated VAR_038690 commonName VAR_038690 VAR_038690 disease not phenotype-associated VAR_038691 commonName VAR_038691 VAR_038691 disease not phenotype-associated VAR_038692 commonName VAR_038692 VAR_038692 disease not phenotype-associated VAR_038694 commonName VAR_038694 VAR_038694 disease not phenotype-associated VAR_038695 commonName VAR_038695 VAR_038695 disease not phenotype-associated VAR_038696 commonName VAR_038696 VAR_038696 disease not phenotype-associated VAR_038697 commonName VAR_038697 VAR_038697 disease not phenotype-associated VAR_038698 commonName VAR_038698 VAR_038698 disease not phenotype-associated VAR_038699 commonName VAR_038699 VAR_038699 disease not phenotype-associated VAR_038700 commonName VAR_038700 VAR_038700 disease not phenotype-associated VAR_038701 commonName VAR_038701 VAR_038701 disease not phenotype-associated VAR_038702 commonName VAR_038702 VAR_038702 disease not phenotype-associated VAR_038703 commonName VAR_038703 VAR_038703 disease not phenotype-associated VAR_038709 commonName VAR_038709 VAR_038709 disease not phenotype-associated VAR_038710 comment A breast cancer sample VAR_038710 commonName VAR_038710 VAR_038711 commonName VAR_038711 VAR_038711 disease not phenotype-associated VAR_038712 commonName VAR_038712 VAR_038712 disease not phenotype-associated VAR_038713 commonName VAR_038713 VAR_038713 disease not phenotype-associated VAR_038714 commonName VAR_038714 VAR_038714 disease not phenotype-associated VAR_038721 commonName VAR_038721 VAR_038721 disease not phenotype-associated VAR_038722 commonName VAR_038722 VAR_038722 disease not phenotype-associated VAR_038723 commonName VAR_038723 VAR_038723 disease not phenotype-associated VAR_038724 commonName VAR_038724 VAR_038724 disease not phenotype-associated VAR_038725 commonName VAR_038725 VAR_038725 disease not phenotype-associated VAR_038726 commonName VAR_038726 VAR_038726 disease not phenotype-associated VAR_038727 commonName VAR_038727 VAR_038727 disease not phenotype-associated VAR_038728 commonName VAR_038728 VAR_038728 disease not phenotype-associated VAR_038729 commonName VAR_038729 VAR_038729 disease not phenotype-associated VAR_038730 commonName VAR_038730 VAR_038730 disease not phenotype-associated VAR_038731 commonName VAR_038731 VAR_038731 disease not phenotype-associated VAR_038732 commonName VAR_038732 VAR_038732 disease not phenotype-associated VAR_038733 commonName VAR_038733 VAR_038733 disease not phenotype-associated VAR_038734 commonName VAR_038734 VAR_038734 disease not phenotype-associated VAR_038735 commonName VAR_038735 VAR_038735 disease not phenotype-associated VAR_038736 commonName VAR_038736 VAR_038736 disease not phenotype-associated VAR_038743 commonName VAR_038743 VAR_038743 disease not phenotype-associated VAR_038744 commonName VAR_038744 VAR_038744 disease not phenotype-associated VAR_038745 commonName VAR_038745 VAR_038745 disease not phenotype-associated VAR_038746 commonName VAR_038746 VAR_038746 disease not phenotype-associated VAR_038747 commonName VAR_038747 VAR_038747 disease not phenotype-associated VAR_038748 commonName VAR_038748 VAR_038748 disease not phenotype-associated VAR_038749 commonName VAR_038749 VAR_038749 disease not phenotype-associated VAR_038750 commonName VAR_038750 VAR_038750 disease not phenotype-associated VAR_038751 commonName VAR_038751 VAR_038751 disease not phenotype-associated VAR_038752 commonName VAR_038752 VAR_038752 disease not phenotype-associated VAR_038753 commonName VAR_038753 VAR_038753 disease not phenotype-associated VAR_038755 commonName VAR_038755 VAR_038755 disease not phenotype-associated VAR_038756 commonName VAR_038756 VAR_038756 disease not phenotype-associated VAR_038757 commonName VAR_038757 VAR_038757 disease not phenotype-associated VAR_038758 commonName VAR_038758 VAR_038758 disease not phenotype-associated VAR_038759 commonName VAR_038759 VAR_038759 disease not phenotype-associated VAR_038760 commonName VAR_038760 VAR_038760 disease not phenotype-associated VAR_038761 commonName VAR_038761 VAR_038761 disease not phenotype-associated VAR_038762 commonName VAR_038762 VAR_038762 disease not phenotype-associated VAR_038763 commonName VAR_038763 VAR_038763 disease not phenotype-associated VAR_038764 commonName VAR_038764 VAR_038764 disease not phenotype-associated VAR_038765 commonName VAR_038765 VAR_038765 disease not phenotype-associated VAR_038766 commonName VAR_038766 VAR_038766 disease not phenotype-associated VAR_038767 commonName VAR_038767 VAR_038767 disease not phenotype-associated VAR_038768 commonName VAR_038768 VAR_038768 disease not phenotype-associated VAR_038769 commonName VAR_038769 VAR_038769 disease not phenotype-associated VAR_038770 commonName VAR_038770 VAR_038770 disease not phenotype-associated VAR_038771 commonName VAR_038771 VAR_038771 disease not phenotype-associated VAR_038772 commonName VAR_038772 VAR_038772 disease not phenotype-associated VAR_038773 commonName VAR_038773 VAR_038773 disease not phenotype-associated VAR_038774 commonName VAR_038774 VAR_038774 disease not phenotype-associated VAR_038775 commonName VAR_038775 VAR_038775 disease not phenotype-associated VAR_038776 commonName VAR_038776 VAR_038776 disease not phenotype-associated VAR_038777 commonName VAR_038777 VAR_038777 disease not phenotype-associated VAR_038778 commonName VAR_038778 VAR_038778 disease not phenotype-associated VAR_038782 commonName VAR_038782 VAR_038782 disease not phenotype-associated VAR_038783 commonName VAR_038783 VAR_038783 disease not phenotype-associated VAR_038784 commonName VAR_038784 VAR_038784 disease not phenotype-associated VAR_038785 commonName VAR_038785 VAR_038785 disease not phenotype-associated VAR_038786 commonName VAR_038786 VAR_038786 disease not phenotype-associated VAR_038787 commonName VAR_038787 VAR_038787 disease not phenotype-associated VAR_038788 commonName VAR_038788 VAR_038788 disease not phenotype-associated VAR_038789 comment A breast cancer sample VAR_038789 commonName VAR_038789 VAR_038790 commonName VAR_038790 VAR_038790 disease not phenotype-associated VAR_038791 commonName VAR_038791 VAR_038791 disease not phenotype-associated VAR_038792 commonName VAR_038792 VAR_038792 disease not phenotype-associated VAR_038794 commonName VAR_038794 VAR_038794 disease not phenotype-associated VAR_038795 commonName VAR_038795 VAR_038795 disease not phenotype-associated VAR_038796 commonName VAR_038796 VAR_038796 disease phenotype-associated VAR_038796 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219] VAR_038797 commonName VAR_038797 VAR_038798 commonName VAR_038798 VAR_038798 disease phenotype-associated VAR_038798 phenoCommon Cataract-microcornea syndrome (CAMIS) [MIM:116150] VAR_038799 commonName VAR_038799 VAR_038799 disease phenotype-associated VAR_038799 phenoCommon Cataract zonular pulverulent type 1 (CZP1) [MIM:116200] VAR_038800 commonName VAR_038800 VAR_038800 disease phenotype-associated VAR_038800 phenoCommon Cataract-microcornea syndrome (CAMIS) [MIM:116150] VAR_038801 commonName VAR_038801 VAR_038801 disease phenotype-associated VAR_038801 phenoCommon Cataract zonular pulverulent type 1 (CZP1) [MIM:116200] VAR_038802 commonName VAR_038802 VAR_038802 disease not phenotype-associated VAR_038803 commonName VAR_038803 VAR_038803 disease not phenotype-associated VAR_038804 commonName VAR_038804 VAR_038804 disease phenotype-associated VAR_038804 phenoCommon Methylmalonic aciduria type cblA (MMAA) [MIM:251100] VAR_038805 commonName VAR_038805 VAR_038805 disease not phenotype-associated VAR_038806 commonName VAR_038806 VAR_038806 disease not phenotype-associated VAR_038807 commonName VAR_038807 VAR_038807 disease phenotype-associated VAR_038807 phenoCommon Bardet-Biedl syndrome type 11 (BBS11) [MIM:209900] VAR_038808 commonName VAR_038808 VAR_038808 disease not phenotype-associated VAR_038809 commonName VAR_038809 VAR_038809 disease not phenotype-associated VAR_038810 commonName VAR_038810 VAR_038810 disease phenotype-associated VAR_038810 phenoCommon Atransferrinemia (ATRAF) [MIM:209300] VAR_038811 commonName VAR_038811 VAR_038811 disease phenotype-associated VAR_038811 phenoCommon Jansen metaphyseal chondrodysplasia (JMC) [MIM:156400] VAR_038812 commonName VAR_038812 VAR_038812 disease phenotype-associated VAR_038812 phenoCommon Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700] VAR_038813 commonName VAR_038813 VAR_038813 disease phenotype-associated VAR_038813 phenoCommon Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700] VAR_038814 commonName VAR_038814 VAR_038814 disease phenotype-associated VAR_038814 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 2 (PEOA2) [MIM:609283] VAR_038815 commonName VAR_038815 VAR_038816 commonName VAR_038816 VAR_038816 disease not phenotype-associated VAR_038817 commonName VAR_038817 VAR_038817 disease not phenotype-associated VAR_038818 commonName VAR_038818 VAR_038818 disease not phenotype-associated VAR_038819 commonName VAR_038819 VAR_038819 disease not phenotype-associated VAR_038820 commonName VAR_038820 VAR_038820 disease not phenotype-associated VAR_038821 commonName VAR_038821 VAR_038821 disease not phenotype-associated VAR_038822 commonName VAR_038822 VAR_038822 disease not phenotype-associated VAR_038823 commonName VAR_038823 VAR_038823 disease not phenotype-associated VAR_038824 commonName VAR_038824 VAR_038824 disease not phenotype-associated VAR_038830 commonName VAR_038830 VAR_038830 disease not phenotype-associated VAR_038831 commonName VAR_038831 VAR_038831 disease not phenotype-associated VAR_038832 commonName VAR_038832 VAR_038832 disease not phenotype-associated VAR_038833 commonName VAR_038833 VAR_038833 disease not phenotype-associated VAR_038834 commonName VAR_038834 VAR_038834 disease not phenotype-associated VAR_038835 commonName VAR_038835 VAR_038835 disease not phenotype-associated VAR_038836 commonName VAR_038836 VAR_038836 disease not phenotype-associated VAR_038837 commonName VAR_038837 VAR_038837 disease not phenotype-associated VAR_038838 commonName VAR_038838 VAR_038838 disease not phenotype-associated VAR_038839 commonName VAR_038839 VAR_038839 disease not phenotype-associated VAR_038840 commonName VAR_038840 VAR_038840 disease not phenotype-associated VAR_038841 commonName VAR_038841 VAR_038841 disease not phenotype-associated VAR_038845 commonName VAR_038845 VAR_038845 disease not phenotype-associated VAR_038846 commonName VAR_038846 VAR_038846 disease not phenotype-associated VAR_038847 commonName VAR_038847 VAR_038847 disease not phenotype-associated VAR_038848 commonName VAR_038848 VAR_038848 disease not phenotype-associated VAR_038849 commonName VAR_038849 VAR_038849 disease not phenotype-associated VAR_038850 commonName VAR_038850 VAR_038850 disease not phenotype-associated VAR_038851 commonName VAR_038851 VAR_038851 disease not phenotype-associated VAR_038852 commonName VAR_038852 VAR_038852 disease not phenotype-associated VAR_038853 commonName VAR_038853 VAR_038853 disease not phenotype-associated VAR_038854 commonName VAR_038854 VAR_038854 disease not phenotype-associated VAR_038855 commonName VAR_038855 VAR_038855 disease not phenotype-associated VAR_038856 commonName VAR_038856 VAR_038856 disease not phenotype-associated VAR_038860 commonName VAR_038860 VAR_038860 disease not phenotype-associated VAR_038861 commonName VAR_038861 VAR_038861 disease not phenotype-associated VAR_038862 commonName VAR_038862 VAR_038862 disease not phenotype-associated VAR_038863 commonName VAR_038863 VAR_038863 disease not phenotype-associated VAR_038864 commonName VAR_038864 VAR_038864 disease not phenotype-associated VAR_038865 commonName VAR_038865 VAR_038865 disease not phenotype-associated VAR_038866 commonName VAR_038866 VAR_038866 disease not phenotype-associated VAR_038867 commonName VAR_038867 VAR_038867 disease not phenotype-associated VAR_038868 commonName VAR_038868 VAR_038868 disease not phenotype-associated VAR_038869 commonName VAR_038869 VAR_038869 disease not phenotype-associated VAR_038870 commonName VAR_038870 VAR_038870 disease not phenotype-associated VAR_038871 commonName VAR_038871 VAR_038871 disease not phenotype-associated VAR_038872 commonName VAR_038872 VAR_038872 disease not phenotype-associated VAR_038873 commonName VAR_038873 VAR_038873 disease not phenotype-associated VAR_038874 commonName VAR_038874 VAR_038874 disease not phenotype-associated VAR_038875 commonName VAR_038875 VAR_038875 disease not phenotype-associated VAR_038877 commonName VAR_038877 VAR_038877 disease not phenotype-associated VAR_038878 commonName VAR_038878 VAR_038878 disease not phenotype-associated VAR_038879 commonName VAR_038879 VAR_038879 disease not phenotype-associated VAR_038880 commonName VAR_038880 VAR_038880 disease phenotype-associated VAR_038880 phenoCommon Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900] VAR_038881 commonName VAR_038881 VAR_038881 disease phenotype-associated VAR_038881 phenoCommon Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900] VAR_038882 commonName VAR_038882 VAR_038882 disease phenotype-associated VAR_038882 phenoCommon Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900] VAR_038883 commonName VAR_038883 VAR_038883 disease phenotype-associated VAR_038883 phenoCommon Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900] VAR_038884 commonName VAR_038884 VAR_038884 disease phenotype-associated VAR_038884 phenoCommon Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900] VAR_038886 commonName VAR_038886 VAR_038886 disease phenotype-associated VAR_038886 phenoCommon Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900] VAR_038889 commonName VAR_038889 VAR_038889 disease phenotype-associated VAR_038889 phenoCommon Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900] VAR_038890 commonName VAR_038890 VAR_038890 disease phenotype-associated VAR_038890 phenoCommon Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900] VAR_038891 commonName VAR_038891 VAR_038891 disease phenotype-associated VAR_038891 phenoCommon Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900] VAR_038892 commonName VAR_038892 VAR_038892 disease phenotype-associated VAR_038892 phenoCommon Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900] VAR_038893 commonName VAR_038893 VAR_038893 disease phenotype-associated VAR_038893 phenoCommon Bardet-Biedl syndrome type 7 (BBS7) [MIM:209900] VAR_038894 commonName VAR_038894 VAR_038894 disease not phenotype-associated VAR_038898 commonName VAR_038898 VAR_038898 disease phenotype-associated HbVar.681 protEffect HBD 143(H20) Ala>Asp VAR_038898 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] VAR_038899 commonName VAR_038899 VAR_038899 disease phenotype-associated VAR_038899 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] VAR_038900 commonName VAR_038900 VAR_038900 disease phenotype-associated VAR_038900 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] VAR_038901 commonName VAR_038901 VAR_038901 disease not phenotype-associated VAR_038902 commonName VAR_038902 VAR_038902 disease phenotype-associated VAR_038902 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] VAR_038903 commonName VAR_038903 VAR_038903 disease phenotype-associated VAR_038903 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] VAR_038904 commonName VAR_038904 VAR_038904 disease not phenotype-associated VAR_038906 commonName VAR_038906 VAR_038906 disease not phenotype-associated VAR_038907 commonName VAR_038907 VAR_038907 disease not phenotype-associated VAR_038916 commonName VAR_038916 VAR_038916 disease not phenotype-associated VAR_038917 commonName VAR_038917 VAR_038917 disease not phenotype-associated VAR_038918 commonName VAR_038918 VAR_038918 disease not phenotype-associated VAR_038919 commonName VAR_038919 VAR_038919 disease not phenotype-associated VAR_038925 commonName VAR_038925 VAR_038925 disease not phenotype-associated VAR_038926 commonName VAR_038926 VAR_038926 disease not phenotype-associated VAR_038927 commonName VAR_038927 VAR_038927 disease not phenotype-associated VAR_038928 comment A breast cancer sample VAR_038928 commonName VAR_038928 VAR_038929 commonName VAR_038929 VAR_038929 disease not phenotype-associated VAR_038930 commonName VAR_038930 VAR_038930 disease not phenotype-associated VAR_038931 commonName VAR_038931 VAR_038931 disease not phenotype-associated VAR_038932 commonName VAR_038932 VAR_038932 disease not phenotype-associated VAR_038933 commonName VAR_038933 VAR_038933 disease not phenotype-associated VAR_038934 commonName VAR_038934 VAR_038934 disease not phenotype-associated VAR_038935 commonName VAR_038935 VAR_038935 disease not phenotype-associated VAR_038936 commonName VAR_038936 VAR_038936 disease not phenotype-associated VAR_038937 commonName VAR_038937 VAR_038937 disease not phenotype-associated VAR_038942 commonName VAR_038942 VAR_038942 disease not phenotype-associated VAR_038943 commonName VAR_038943 VAR_038943 disease not phenotype-associated VAR_038944 commonName VAR_038944 VAR_038944 disease not phenotype-associated VAR_038945 commonName VAR_038945 VAR_038945 disease not phenotype-associated VAR_038946 commonName VAR_038946 VAR_038946 disease not phenotype-associated VAR_038947 commonName VAR_038947 VAR_038947 disease phenotype-associated VAR_038947 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] VAR_038948 commonName VAR_038948 VAR_038948 disease phenotype-associated VAR_038948 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] VAR_038949 commonName VAR_038949 VAR_038949 disease not phenotype-associated VAR_038950 commonName VAR_038950 VAR_038950 disease not phenotype-associated VAR_038951 commonName VAR_038951 VAR_038951 disease not phenotype-associated VAR_038952 commonName VAR_038952 VAR_038952 disease not phenotype-associated VAR_038953 commonName VAR_038953 VAR_038953 disease not phenotype-associated VAR_038954 commonName VAR_038954 VAR_038954 disease not phenotype-associated VAR_038955 commonName VAR_038955 VAR_038955 disease not phenotype-associated VAR_038957 commonName VAR_038957 VAR_038957 disease not phenotype-associated VAR_038958 commonName VAR_038958 VAR_038958 disease not phenotype-associated VAR_038959 commonName VAR_038959 VAR_038959 disease phenotype-associated VAR_038959 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_038960 commonName VAR_038960 VAR_038960 disease not phenotype-associated VAR_038961 commonName VAR_038961 VAR_038961 disease phenotype-associated VAR_038961 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_038962 commonName VAR_038962 VAR_038962 disease phenotype-associated VAR_038962 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_038963 commonName VAR_038963 VAR_038964 commonName VAR_038964 VAR_038964 disease phenotype-associated VAR_038964 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_038965 commonName VAR_038965 VAR_038965 disease phenotype-associated VAR_038965 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_038966 commonName VAR_038966 VAR_038966 disease phenotype-associated VAR_038966 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_038967 commonName VAR_038967 VAR_038967 disease phenotype-associated VAR_038967 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_038968 commonName VAR_038968 VAR_038968 disease phenotype-associated VAR_038968 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_038969 commonName VAR_038969 VAR_038969 disease phenotype-associated VAR_038969 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_038970 commonName VAR_038970 VAR_038970 disease phenotype-associated VAR_038970 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_038971 commonName VAR_038971 VAR_038971 disease phenotype-associated VAR_038971 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_038972 commonName VAR_038972 VAR_038972 disease phenotype-associated VAR_038972 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_038973 commonName VAR_038973 VAR_038973 disease phenotype-associated VAR_038973 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_038974 commonName VAR_038974 VAR_038974 disease phenotype-associated VAR_038974 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_038975 commonName VAR_038975 VAR_038975 disease phenotype-associated VAR_038975 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_038976 commonName VAR_038976 VAR_038976 disease phenotype-associated VAR_038976 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_038977 commonName VAR_038977 VAR_038977 disease phenotype-associated VAR_038977 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_038978 commonName VAR_038978 VAR_038978 disease phenotype-associated VAR_038978 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_038979 commonName VAR_038979 VAR_038979 disease phenotype-associated VAR_038979 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_038980 commonName VAR_038980 VAR_038980 disease phenotype-associated VAR_038980 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_038981 commonName VAR_038981 VAR_038982 commonName VAR_038982 VAR_038982 disease phenotype-associated VAR_038982 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_038983 commonName VAR_038983 VAR_038983 disease not phenotype-associated VAR_038984 commonName VAR_038984 VAR_038984 disease phenotype-associated VAR_038984 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_038985 commonName VAR_038985 VAR_038985 disease phenotype-associated VAR_038985 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_038986 commonName VAR_038986 VAR_038986 disease phenotype-associated VAR_038986 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_038987 commonName VAR_038987 VAR_038987 disease phenotype-associated VAR_038987 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_038988 commonName VAR_038988 VAR_038988 disease phenotype-associated VAR_038988 phenoCommon Amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210] VAR_038989 commonName VAR_038989 VAR_038989 disease not phenotype-associated VAR_038990 commonName VAR_038990 VAR_038990 disease not phenotype-associated VAR_038991 commonName VAR_038991 VAR_038991 disease not phenotype-associated VAR_038992 commonName VAR_038992 VAR_038992 disease not phenotype-associated VAR_038993 commonName VAR_038993 VAR_038993 disease not phenotype-associated VAR_038994 commonName VAR_038994 VAR_038994 disease not phenotype-associated VAR_038995 commonName VAR_038995 VAR_038995 disease not phenotype-associated VAR_038996 commonName VAR_038996 VAR_038996 disease not phenotype-associated VAR_038997 commonName VAR_038997 VAR_038997 disease not phenotype-associated VAR_038998 commonName VAR_038998 VAR_038998 disease not phenotype-associated VAR_038999 commonName VAR_038999 VAR_038999 disease not phenotype-associated VAR_039000 commonName VAR_039000 VAR_039000 disease not phenotype-associated VAR_039001 commonName VAR_039001 VAR_039001 disease not phenotype-associated VAR_039002 commonName VAR_039002 VAR_039002 disease not phenotype-associated VAR_039003 commonName VAR_039003 VAR_039003 disease not phenotype-associated VAR_039004 commonName VAR_039004 VAR_039004 disease not phenotype-associated VAR_039005 commonName VAR_039005 VAR_039005 disease not phenotype-associated VAR_039006 commonName VAR_039006 VAR_039006 disease not phenotype-associated VAR_039007 commonName VAR_039007 VAR_039007 disease not phenotype-associated VAR_039008 commonName VAR_039008 VAR_039008 disease not phenotype-associated VAR_039010 commonName VAR_039010 VAR_039010 disease not phenotype-associated VAR_039013 commonName VAR_039013 VAR_039013 disease not phenotype-associated VAR_039014 commonName VAR_039014 VAR_039014 disease not phenotype-associated VAR_039015 commonName VAR_039015 VAR_039015 disease not phenotype-associated VAR_039016 commonName VAR_039016 VAR_039016 disease not phenotype-associated VAR_039017 commonName VAR_039017 VAR_039017 disease not phenotype-associated VAR_039018 commonName VAR_039018 VAR_039018 disease not phenotype-associated VAR_039019 commonName VAR_039019 VAR_039019 disease not phenotype-associated VAR_039020 commonName VAR_039020 VAR_039020 disease phenotype-associated VAR_039020 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] VAR_039021 commonName VAR_039021 VAR_039021 disease phenotype-associated VAR_039021 phenoCommon Fish-eye disease (FED) [MIM:136120] VAR_039022 commonName VAR_039022 VAR_039022 disease phenotype-associated VAR_039022 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] VAR_039023 commonName VAR_039023 VAR_039023 disease phenotype-associated VAR_039023 phenoCommon Fish-eye disease (FED) [MIM:136120] VAR_039024 commonName VAR_039024 VAR_039025 commonName VAR_039025 VAR_039025 disease not phenotype-associated VAR_039026 commonName VAR_039026 VAR_039026 disease phenotype-associated VAR_039026 phenoCommon Fish-eye disease (FED) [MIM:136120] VAR_039027 commonName VAR_039027 VAR_039027 disease phenotype-associated VAR_039027 phenoCommon Fish-eye disease (FED) [MIM:136120] VAR_039028 commonName VAR_039028 VAR_039028 disease phenotype-associated VAR_039028 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] VAR_039029 commonName VAR_039029 VAR_039029 disease not phenotype-associated VAR_039030 commonName VAR_039030 VAR_039030 disease phenotype-associated VAR_039030 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] VAR_039031 commonName VAR_039031 VAR_039031 disease phenotype-associated VAR_039031 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] VAR_039032 commonName VAR_039032 VAR_039032 disease phenotype-associated VAR_039032 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] VAR_039033 commonName VAR_039033 VAR_039033 disease phenotype-associated VAR_039033 phenoCommon Fish-eye disease (FED) [MIM:136120] VAR_039033 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] VAR_039034 commonName VAR_039034 VAR_039034 disease phenotype-associated VAR_039034 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] VAR_039035 commonName VAR_039035 VAR_039035 disease phenotype-associated VAR_039035 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] VAR_039036 commonName VAR_039036 VAR_039036 disease phenotype-associated VAR_039036 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] VAR_039037 commonName VAR_039037 VAR_039038 commonName VAR_039038 VAR_039038 disease phenotype-associated VAR_039038 phenoCommon Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900] VAR_039039 commonName VAR_039039 VAR_039039 disease not phenotype-associated VAR_039040 commonName VAR_039040 VAR_039040 disease not phenotype-associated VAR_039041 commonName VAR_039041 VAR_039041 disease phenotype-associated VAR_039041 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150] VAR_039042 commonName VAR_039042 VAR_039042 disease phenotype-associated VAR_039042 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150] VAR_039043 commonName VAR_039043 VAR_039043 disease phenotype-associated VAR_039043 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150] VAR_039045 commonName VAR_039045 VAR_039045 disease phenotype-associated VAR_039045 phenoCommon Mitochondrial DNA depletion syndrome type 7 (MTDPS7) [MIM:271245] VAR_039046 commonName VAR_039046 VAR_039046 disease not phenotype-associated VAR_039048 commonName VAR_039048 VAR_039048 disease not phenotype-associated VAR_039049 commonName VAR_039049 VAR_039049 disease not phenotype-associated VAR_039050 commonName VAR_039050 VAR_039050 disease not phenotype-associated VAR_039051 commonName VAR_039051 VAR_039051 disease not phenotype-associated VAR_039056 commonName VAR_039056 VAR_039056 disease not phenotype-associated VAR_039057 commonName VAR_039057 VAR_039057 disease not phenotype-associated VAR_039058 commonName VAR_039058 VAR_039058 disease not phenotype-associated VAR_039059 commonName VAR_039059 VAR_039059 disease not phenotype-associated VAR_039060 commonName VAR_039060 VAR_039060 disease not phenotype-associated VAR_039061 commonName VAR_039061 VAR_039061 disease not phenotype-associated VAR_039062 commonName VAR_039062 VAR_039062 disease not phenotype-associated VAR_039063 commonName VAR_039063 VAR_039063 disease not phenotype-associated VAR_039064 commonName VAR_039064 VAR_039064 disease not phenotype-associated VAR_039065 commonName VAR_039065 VAR_039065 disease not phenotype-associated VAR_039066 commonName VAR_039066 VAR_039066 disease not phenotype-associated VAR_039067 commonName VAR_039067 VAR_039067 disease not phenotype-associated VAR_039068 commonName VAR_039068 VAR_039068 disease not phenotype-associated VAR_039069 commonName VAR_039069 VAR_039069 disease not phenotype-associated VAR_039070 commonName VAR_039070 VAR_039070 disease not phenotype-associated VAR_039071 commonName VAR_039071 VAR_039071 disease not phenotype-associated VAR_039072 commonName VAR_039072 VAR_039072 disease not phenotype-associated VAR_039073 commonName VAR_039073 VAR_039073 disease not phenotype-associated VAR_039074 commonName VAR_039074 VAR_039074 disease not phenotype-associated VAR_039075 commonName VAR_039075 VAR_039075 disease not phenotype-associated VAR_039076 commonName VAR_039076 VAR_039076 disease not phenotype-associated VAR_039077 commonName VAR_039077 VAR_039077 disease not phenotype-associated VAR_039078 commonName VAR_039078 VAR_039078 disease not phenotype-associated VAR_039079 commonName VAR_039079 VAR_039079 disease phenotype-associated VAR_039079 phenoCommon Canavan disease (CAND) [MIM:271900] VAR_039080 commonName VAR_039080 VAR_039080 disease phenotype-associated VAR_039080 phenoCommon Canavan disease (CAND) [MIM:271900] VAR_039081 commonName VAR_039081 VAR_039081 disease phenotype-associated VAR_039081 phenoCommon Canavan disease (CAND) [MIM:271900] VAR_039082 commonName VAR_039082 VAR_039082 disease phenotype-associated VAR_039082 phenoCommon Canavan disease (CAND) [MIM:271900] VAR_039083 commonName VAR_039083 VAR_039083 disease phenotype-associated VAR_039083 phenoCommon Canavan disease (CAND) [MIM:271900] VAR_039084 commonName VAR_039084 VAR_039084 disease phenotype-associated VAR_039084 phenoCommon Canavan disease (CAND) [MIM:271900] VAR_039085 commonName VAR_039085 VAR_039085 disease phenotype-associated VAR_039085 phenoCommon Canavan disease (CAND) [MIM:271900] VAR_039086 commonName VAR_039086 VAR_039086 disease phenotype-associated VAR_039086 phenoCommon Canavan disease (CAND) [MIM:271900] VAR_039087 commonName VAR_039087 VAR_039087 disease phenotype-associated VAR_039087 phenoCommon Canavan disease (CAND) [MIM:271900] VAR_039088 commonName VAR_039088 VAR_039088 disease phenotype-associated VAR_039088 phenoCommon Canavan disease (CAND) [MIM:271900] VAR_039089 commonName VAR_039089 VAR_039089 disease phenotype-associated VAR_039089 phenoCommon Canavan disease (CAND) [MIM:271900] VAR_039090 commonName VAR_039090 VAR_039090 disease phenotype-associated VAR_039090 phenoCommon Canavan disease (CAND) [MIM:271900] VAR_039091 commonName VAR_039091 VAR_039091 disease not phenotype-associated VAR_039092 commonName VAR_039092 VAR_039092 disease phenotype-associated VAR_039092 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700] VAR_039094 commonName VAR_039094 VAR_039094 disease phenotype-associated VAR_039094 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700] VAR_039095 commonName VAR_039095 VAR_039095 disease not phenotype-associated VAR_039096 commonName VAR_039096 VAR_039096 disease phenotype-associated VAR_039096 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700] VAR_039097 commonName VAR_039097 VAR_039097 disease phenotype-associated VAR_039097 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700] VAR_039098 commonName VAR_039098 VAR_039098 disease phenotype-associated VAR_039098 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700] VAR_039099 commonName VAR_039099 VAR_039099 disease not phenotype-associated VAR_039100 commonName VAR_039100 VAR_039100 disease phenotype-associated VAR_039100 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700] VAR_039101 commonName VAR_039101 VAR_039101 disease phenotype-associated VAR_039101 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700] VAR_039102 commonName VAR_039102 VAR_039102 disease phenotype-associated VAR_039102 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700] VAR_039103 commonName VAR_039103 VAR_039103 disease phenotype-associated VAR_039103 phenoCommon Lysinuric protein intolerance (LPI) [MIM:222700] VAR_039104 commonName VAR_039104 VAR_039104 disease not phenotype-associated VAR_039105 commonName VAR_039105 VAR_039105 disease not phenotype-associated VAR_039106 commonName VAR_039106 VAR_039106 disease phenotype-associated VAR_039106 phenoCommon 46,XY sex reversal type 3 (SRXY3) [MIM:612965] VAR_039107 commonName VAR_039107 VAR_039107 disease phenotype-associated VAR_039107 phenoCommon 46,XY sex reversal type 3 (SRXY3) [MIM:612965] VAR_039108 commonName VAR_039108 VAR_039108 disease not phenotype-associated VAR_039109 commonName VAR_039109 VAR_039109 disease not phenotype-associated VAR_039110 commonName VAR_039110 VAR_039110 disease not phenotype-associated VAR_039111 commonName VAR_039111 VAR_039111 disease not phenotype-associated VAR_039112 commonName VAR_039112 VAR_039112 disease not phenotype-associated VAR_039113 commonName VAR_039113 VAR_039113 disease not phenotype-associated VAR_039114 commonName VAR_039114 VAR_039114 disease not phenotype-associated VAR_039115 commonName VAR_039115 VAR_039115 disease not phenotype-associated VAR_039116 commonName VAR_039116 VAR_039116 disease not phenotype-associated VAR_039117 commonName VAR_039117 VAR_039117 disease not phenotype-associated VAR_039118 commonName VAR_039118 VAR_039118 disease not phenotype-associated VAR_039119 commonName VAR_039119 VAR_039119 disease not phenotype-associated VAR_039120 commonName VAR_039120 VAR_039120 disease not phenotype-associated VAR_039121 commonName VAR_039121 VAR_039121 disease not phenotype-associated VAR_039122 commonName VAR_039122 VAR_039122 disease not phenotype-associated VAR_039123 commonName VAR_039123 VAR_039123 disease not phenotype-associated VAR_039124 commonName VAR_039124 VAR_039124 disease not phenotype-associated VAR_039125 commonName VAR_039125 VAR_039125 disease not phenotype-associated VAR_039126 commonName VAR_039126 VAR_039126 disease not phenotype-associated VAR_039128 commonName VAR_039128 VAR_039128 disease not phenotype-associated VAR_039129 commonName VAR_039129 VAR_039129 disease not phenotype-associated VAR_039130 comment A colorectal cancer sample VAR_039130 commonName VAR_039130 VAR_039131 commonName VAR_039131 VAR_039131 disease not phenotype-associated VAR_039133 commonName VAR_039133 VAR_039133 disease not phenotype-associated VAR_039134 commonName VAR_039134 VAR_039134 disease not phenotype-associated VAR_039137 commonName VAR_039137 VAR_039137 disease not phenotype-associated VAR_039138 commonName VAR_039138 VAR_039138 disease not phenotype-associated VAR_039140 commonName VAR_039140 VAR_039140 disease not phenotype-associated VAR_039141 commonName VAR_039141 VAR_039141 disease not phenotype-associated VAR_039142 commonName VAR_039142 VAR_039142 disease not phenotype-associated VAR_039143 commonName VAR_039143 VAR_039143 disease not phenotype-associated VAR_039144 commonName VAR_039144 VAR_039144 disease not phenotype-associated VAR_039145 commonName VAR_039145 VAR_039145 disease not phenotype-associated VAR_039146 commonName VAR_039146 VAR_039146 disease not phenotype-associated VAR_039147 commonName VAR_039147 VAR_039147 disease not phenotype-associated VAR_039148 commonName VAR_039148 VAR_039148 disease not phenotype-associated VAR_039149 commonName VAR_039149 VAR_039149 disease not phenotype-associated VAR_039150 commonName VAR_039150 VAR_039150 disease not phenotype-associated VAR_039152 commonName VAR_039152 VAR_039152 disease not phenotype-associated VAR_039153 commonName VAR_039153 VAR_039153 disease not phenotype-associated VAR_039154 commonName VAR_039154 VAR_039154 disease not phenotype-associated VAR_039155 commonName VAR_039155 VAR_039155 disease not phenotype-associated VAR_039156 commonName VAR_039156 VAR_039156 disease not phenotype-associated VAR_039157 commonName VAR_039157 VAR_039157 disease not phenotype-associated VAR_039158 commonName VAR_039158 VAR_039158 disease not phenotype-associated VAR_039159 commonName VAR_039159 VAR_039159 disease not phenotype-associated VAR_039160 commonName VAR_039160 VAR_039160 disease not phenotype-associated VAR_039161 commonName VAR_039161 VAR_039161 disease not phenotype-associated VAR_039162 commonName VAR_039162 VAR_039162 disease not phenotype-associated VAR_039163 commonName VAR_039163 VAR_039163 disease not phenotype-associated VAR_039164 commonName VAR_039164 VAR_039164 disease not phenotype-associated VAR_039165 commonName VAR_039165 VAR_039165 disease not phenotype-associated VAR_039166 commonName VAR_039166 VAR_039166 disease not phenotype-associated VAR_039167 commonName VAR_039167 VAR_039167 disease not phenotype-associated VAR_039168 commonName VAR_039168 VAR_039168 disease not phenotype-associated VAR_039169 commonName VAR_039169 VAR_039169 disease not phenotype-associated VAR_039170 commonName VAR_039170 VAR_039170 disease not phenotype-associated VAR_039171 commonName VAR_039171 VAR_039171 disease not phenotype-associated VAR_039173 commonName VAR_039173 VAR_039173 disease not phenotype-associated VAR_039174 commonName VAR_039174 VAR_039174 disease not phenotype-associated VAR_039175 commonName VAR_039175 VAR_039175 disease not phenotype-associated VAR_039176 commonName VAR_039176 VAR_039176 disease not phenotype-associated VAR_039177 commonName VAR_039177 VAR_039177 disease not phenotype-associated VAR_039180 commonName VAR_039180 VAR_039180 disease not phenotype-associated VAR_039181 commonName VAR_039181 VAR_039181 disease not phenotype-associated VAR_039182 commonName VAR_039182 VAR_039182 disease not phenotype-associated VAR_039183 commonName VAR_039183 VAR_039183 disease not phenotype-associated VAR_039184 commonName VAR_039184 VAR_039184 disease not phenotype-associated VAR_039185 commonName VAR_039185 VAR_039185 disease not phenotype-associated VAR_039186 commonName VAR_039186 VAR_039186 disease not phenotype-associated VAR_039187 commonName VAR_039187 VAR_039187 disease not phenotype-associated VAR_039188 commonName VAR_039188 VAR_039188 disease not phenotype-associated VAR_039189 commonName VAR_039189 VAR_039189 disease not phenotype-associated VAR_039190 commonName VAR_039190 VAR_039190 disease not phenotype-associated VAR_039191 commonName VAR_039191 VAR_039191 disease not phenotype-associated VAR_039192 commonName VAR_039192 VAR_039192 disease not phenotype-associated VAR_039193 commonName VAR_039193 VAR_039193 disease not phenotype-associated VAR_039194 commonName VAR_039194 VAR_039194 disease not phenotype-associated VAR_039195 commonName VAR_039195 VAR_039195 disease not phenotype-associated VAR_039196 commonName VAR_039196 VAR_039196 disease not phenotype-associated VAR_039197 commonName VAR_039197 VAR_039197 disease not phenotype-associated VAR_039198 commonName VAR_039198 VAR_039198 disease not phenotype-associated VAR_039199 commonName VAR_039199 VAR_039199 disease not phenotype-associated VAR_039200 commonName VAR_039200 VAR_039200 disease not phenotype-associated VAR_039201 commonName VAR_039201 VAR_039201 disease not phenotype-associated VAR_039202 commonName VAR_039202 VAR_039202 disease not phenotype-associated VAR_039203 commonName VAR_039203 VAR_039203 disease not phenotype-associated VAR_039204 commonName VAR_039204 VAR_039204 disease not phenotype-associated VAR_039205 commonName VAR_039205 VAR_039205 disease not phenotype-associated VAR_039206 commonName VAR_039206 VAR_039206 disease not phenotype-associated VAR_039207 commonName VAR_039207 VAR_039207 disease not phenotype-associated VAR_039208 commonName VAR_039208 VAR_039208 disease not phenotype-associated VAR_039209 commonName VAR_039209 VAR_039209 disease not phenotype-associated VAR_039210 commonName VAR_039210 VAR_039210 disease not phenotype-associated VAR_039211 commonName VAR_039211 VAR_039211 disease not phenotype-associated VAR_039212 commonName VAR_039212 VAR_039212 disease not phenotype-associated VAR_039213 commonName VAR_039213 VAR_039213 disease not phenotype-associated VAR_039214 commonName VAR_039214 VAR_039214 disease not phenotype-associated VAR_039215 commonName VAR_039215 VAR_039215 disease not phenotype-associated VAR_039216 commonName VAR_039216 VAR_039216 disease not phenotype-associated VAR_039217 commonName VAR_039217 VAR_039217 disease not phenotype-associated VAR_039218 commonName VAR_039218 VAR_039218 disease not phenotype-associated VAR_039219 commonName VAR_039219 VAR_039219 disease not phenotype-associated VAR_039220 commonName VAR_039220 VAR_039220 disease not phenotype-associated VAR_039221 commonName VAR_039221 VAR_039221 disease not phenotype-associated VAR_039222 commonName VAR_039222 VAR_039222 disease not phenotype-associated VAR_039223 commonName VAR_039223 VAR_039223 disease not phenotype-associated VAR_039224 commonName VAR_039224 VAR_039224 disease not phenotype-associated VAR_039225 commonName VAR_039225 VAR_039225 disease not phenotype-associated VAR_039226 commonName VAR_039226 VAR_039226 disease not phenotype-associated VAR_039227 commonName VAR_039227 VAR_039227 disease not phenotype-associated VAR_039228 commonName VAR_039228 VAR_039228 disease not phenotype-associated VAR_039229 commonName VAR_039229 VAR_039229 disease not phenotype-associated VAR_039230 commonName VAR_039230 VAR_039230 disease not phenotype-associated VAR_039231 comment A breast cancer sample VAR_039231 commonName VAR_039231 VAR_039234 commonName VAR_039234 VAR_039234 disease not phenotype-associated VAR_039236 commonName VAR_039236 VAR_039236 disease not phenotype-associated VAR_039237 commonName VAR_039237 VAR_039237 disease not phenotype-associated VAR_039238 commonName VAR_039238 VAR_039238 disease not phenotype-associated VAR_039239 commonName VAR_039239 VAR_039239 disease not phenotype-associated VAR_039240 commonName VAR_039240 VAR_039240 disease not phenotype-associated VAR_039248 commonName VAR_039248 VAR_039248 disease not phenotype-associated VAR_039255 commonName VAR_039255 VAR_039255 disease not phenotype-associated VAR_039256 commonName VAR_039256 VAR_039256 disease not phenotype-associated VAR_039257 commonName VAR_039257 VAR_039257 disease not phenotype-associated VAR_039258 commonName VAR_039258 VAR_039258 disease not phenotype-associated VAR_039260 commonName VAR_039260 VAR_039260 disease not phenotype-associated VAR_039261 commonName VAR_039261 VAR_039261 disease not phenotype-associated VAR_039263 commonName VAR_039263 VAR_039263 disease not phenotype-associated VAR_039264 commonName VAR_039264 VAR_039264 disease not phenotype-associated VAR_039265 commonName VAR_039265 VAR_039265 disease not phenotype-associated VAR_039266 commonName VAR_039266 VAR_039266 disease not phenotype-associated VAR_039267 commonName VAR_039267 VAR_039267 disease not phenotype-associated VAR_039268 commonName VAR_039268 VAR_039268 disease not phenotype-associated VAR_039269 commonName VAR_039269 VAR_039269 disease not phenotype-associated VAR_039270 commonName VAR_039270 VAR_039270 disease not phenotype-associated VAR_039271 commonName VAR_039271 VAR_039271 disease not phenotype-associated VAR_039272 commonName VAR_039272 VAR_039272 disease not phenotype-associated VAR_039273 commonName VAR_039273 VAR_039273 disease not phenotype-associated VAR_039274 commonName VAR_039274 VAR_039274 disease not phenotype-associated VAR_039276 commonName VAR_039276 VAR_039276 disease not phenotype-associated VAR_039277 commonName VAR_039277 VAR_039277 disease not phenotype-associated VAR_039279 commonName VAR_039279 VAR_039279 disease phenotype-associated VAR_039279 phenoCommon Ovarian hyperstimulation syndrome (OHSS) [MIM:608115] VAR_039280 commonName VAR_039280 VAR_039280 disease phenotype-associated VAR_039280 phenoCommon Ovarian dysgenesis type 1 (ODG1) [MIM:233300] VAR_039281 commonName VAR_039281 VAR_039281 disease phenotype-associated VAR_039281 phenoCommon Ovarian dysgenesis type 1 (ODG1) [MIM:233300] VAR_039282 commonName VAR_039282 VAR_039282 disease phenotype-associated VAR_039282 phenoCommon Ovarian hyperstimulation syndrome (OHSS) [MIM:608115] VAR_039283 commonName VAR_039283 VAR_039283 disease phenotype-associated VAR_039283 phenoCommon Ovarian dysgenesis type 1 (ODG1) [MIM:233300] VAR_039284 commonName VAR_039284 VAR_039284 disease phenotype-associated VAR_039284 phenoCommon Ovarian hyperstimulation syndrome (OHSS) [MIM:608115] VAR_039285 commonName VAR_039285 VAR_039286 commonName VAR_039286 VAR_039286 disease phenotype-associated VAR_039286 phenoCommon Ovarian dysgenesis type 1 (ODG1) [MIM:233300] VAR_039287 commonName VAR_039287 VAR_039287 disease phenotype-associated VAR_039287 phenoCommon Cardiomyopathy dilated type 1X (CMD1X) [MIM:611615] VAR_039288 commonName VAR_039288 VAR_039288 disease phenotype-associated VAR_039288 phenoCommon Muscular dystrophy-dystroglycanopathy congenital without mental retardation type B4 (MDDGB4) [MIM:613152] VAR_039288 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C4 (MDDGC4) [MIM:611588] VAR_039290 commonName VAR_039290 VAR_039290 disease not phenotype-associated VAR_039291 commonName VAR_039291 VAR_039291 disease not phenotype-associated VAR_039298 commonName VAR_039298 VAR_039298 disease not phenotype-associated VAR_039299 commonName VAR_039299 VAR_039299 disease not phenotype-associated VAR_039300 commonName VAR_039300 VAR_039300 disease not phenotype-associated VAR_039301 comment Bladder carcinoma cell line Hu549 VAR_039301 commonName VAR_039301 VAR_039302 comment Bladder carcinoma cell line Hu549 VAR_039302 commonName VAR_039302 VAR_039303 comment Bladder carcinoma cell line Hu549 VAR_039303 commonName VAR_039303 VAR_039304 commonName VAR_039304 VAR_039304 disease not phenotype-associated VAR_039305 commonName VAR_039305 VAR_039305 disease not phenotype-associated VAR_039306 commonName VAR_039306 VAR_039306 disease not phenotype-associated VAR_039307 commonName VAR_039307 VAR_039307 disease not phenotype-associated VAR_039308 commonName VAR_039308 VAR_039308 disease not phenotype-associated VAR_039309 commonName VAR_039309 VAR_039309 disease not phenotype-associated VAR_039310 commonName VAR_039310 VAR_039310 disease not phenotype-associated VAR_039311 commonName VAR_039311 VAR_039311 disease not phenotype-associated VAR_039312 commonName VAR_039312 VAR_039312 disease not phenotype-associated VAR_039313 commonName VAR_039313 VAR_039313 disease not phenotype-associated VAR_039314 commonName VAR_039314 VAR_039314 disease not phenotype-associated VAR_039315 commonName VAR_039315 VAR_039315 disease not phenotype-associated VAR_039316 commonName VAR_039316 VAR_039316 disease not phenotype-associated VAR_039317 commonName VAR_039317 VAR_039317 disease not phenotype-associated VAR_039318 commonName VAR_039318 VAR_039318 disease not phenotype-associated VAR_039319 commonName VAR_039319 VAR_039319 disease not phenotype-associated VAR_039320 comment A colorectal cancer sample VAR_039320 commonName VAR_039320 VAR_039321 commonName VAR_039321 VAR_039321 disease not phenotype-associated VAR_039322 commonName VAR_039322 VAR_039322 disease not phenotype-associated VAR_039323 commonName VAR_039323 VAR_039324 commonName VAR_039324 VAR_039324 disease not phenotype-associated VAR_039325 commonName VAR_039325 VAR_039325 disease not phenotype-associated VAR_039326 commonName VAR_039326 VAR_039326 disease not phenotype-associated VAR_039327 commonName VAR_039327 VAR_039327 disease not phenotype-associated VAR_039328 commonName VAR_039328 VAR_039328 disease not phenotype-associated VAR_039329 commonName VAR_039329 VAR_039329 disease not phenotype-associated VAR_039330 commonName VAR_039330 VAR_039330 disease not phenotype-associated VAR_039332 commonName VAR_039332 VAR_039332 disease phenotype-associated VAR_039332 phenoCommon Lissencephaly type 3 (LIS3) [MIM:611603] VAR_039333 commonName VAR_039333 VAR_039333 disease phenotype-associated VAR_039333 phenoCommon Lissencephaly type 3 (LIS3) [MIM:611603] VAR_039334 commonName VAR_039334 VAR_039334 disease phenotype-associated VAR_039334 phenoCommon Lissencephaly type 3 (LIS3) [MIM:611603] VAR_039335 commonName VAR_039335 VAR_039335 disease phenotype-associated VAR_039335 phenoCommon Lissencephaly type 3 (LIS3) [MIM:611603] VAR_039336 commonName VAR_039336 VAR_039336 disease phenotype-associated VAR_039336 phenoCommon Lissencephaly type 3 (LIS3) [MIM:611603] VAR_039337 commonName VAR_039337 VAR_039337 disease phenotype-associated VAR_039337 phenoCommon Lissencephaly type 3 (LIS3) [MIM:611603] VAR_039338 commonName VAR_039338 VAR_039338 disease phenotype-associated VAR_039338 phenoCommon Lissencephaly type 3 (LIS3) [MIM:611603] VAR_039339 commonName VAR_039339 VAR_039339 disease not phenotype-associated VAR_039340 commonName VAR_039340 VAR_039340 disease not phenotype-associated VAR_039341 commonName VAR_039341 VAR_039341 disease not phenotype-associated VAR_039342 commonName VAR_039342 VAR_039342 disease not phenotype-associated VAR_039344 commonName VAR_039344 VAR_039344 disease not phenotype-associated VAR_039345 commonName VAR_039345 VAR_039345 disease not phenotype-associated VAR_039346 commonName VAR_039346 VAR_039346 disease not phenotype-associated VAR_039347 commonName VAR_039347 VAR_039347 disease not phenotype-associated VAR_039348 commonName VAR_039348 VAR_039348 disease not phenotype-associated VAR_039349 commonName VAR_039349 VAR_039349 disease not phenotype-associated VAR_039350 commonName VAR_039350 VAR_039350 disease not phenotype-associated VAR_039351 commonName VAR_039351 VAR_039351 disease not phenotype-associated VAR_039352 commonName VAR_039352 VAR_039352 disease not phenotype-associated VAR_039353 commonName VAR_039353 VAR_039353 disease not phenotype-associated VAR_039354 commonName VAR_039354 VAR_039354 disease not phenotype-associated VAR_039355 commonName VAR_039355 VAR_039355 disease not phenotype-associated VAR_039356 commonName VAR_039356 VAR_039356 disease not phenotype-associated VAR_039357 commonName VAR_039357 VAR_039357 disease not phenotype-associated VAR_039358 commonName VAR_039358 VAR_039358 disease not phenotype-associated VAR_039359 commonName VAR_039359 VAR_039359 disease not phenotype-associated VAR_039360 commonName VAR_039360 VAR_039360 disease not phenotype-associated VAR_039361 commonName VAR_039361 VAR_039361 disease not phenotype-associated VAR_039369 commonName VAR_039369 VAR_039369 disease not phenotype-associated VAR_039370 commonName VAR_039370 VAR_039370 disease not phenotype-associated VAR_039371 commonName VAR_039371 VAR_039371 disease not phenotype-associated VAR_039372 commonName VAR_039372 VAR_039372 disease not phenotype-associated VAR_039373 commonName VAR_039373 VAR_039373 disease not phenotype-associated VAR_039374 commonName VAR_039374 VAR_039374 disease not phenotype-associated VAR_039375 commonName VAR_039375 VAR_039375 disease not phenotype-associated VAR_039376 commonName VAR_039376 VAR_039376 disease not phenotype-associated VAR_039377 commonName VAR_039377 VAR_039377 disease not phenotype-associated VAR_039378 commonName VAR_039378 VAR_039378 disease not phenotype-associated VAR_039379 commonName VAR_039379 VAR_039379 disease not phenotype-associated VAR_039380 commonName VAR_039380 VAR_039380 disease not phenotype-associated VAR_039381 commonName VAR_039381 VAR_039381 disease not phenotype-associated VAR_039382 commonName VAR_039382 VAR_039382 disease not phenotype-associated VAR_039383 commonName VAR_039383 VAR_039383 disease not phenotype-associated VAR_039384 commonName VAR_039384 VAR_039384 disease not phenotype-associated VAR_039385 commonName VAR_039385 VAR_039385 disease not phenotype-associated VAR_039386 commonName VAR_039386 VAR_039386 disease not phenotype-associated VAR_039387 commonName VAR_039387 VAR_039387 disease not phenotype-associated VAR_039388 commonName VAR_039388 VAR_039388 disease not phenotype-associated VAR_039389 commonName VAR_039389 VAR_039389 disease not phenotype-associated VAR_039390 commonName VAR_039390 VAR_039390 disease not phenotype-associated VAR_039391 commonName VAR_039391 VAR_039391 disease not phenotype-associated VAR_039393 commonName VAR_039393 VAR_039393 disease phenotype-associated VAR_039393 phenoCommon Joubert syndrome type 7 (JBTS7) [MIM:611560] VAR_039394 commonName VAR_039394 VAR_039395 commonName VAR_039395 VAR_039395 disease phenotype-associated VAR_039395 phenoCommon Joubert syndrome type 7 (JBTS7) [MIM:611560] VAR_039396 commonName VAR_039396 VAR_039396 disease not phenotype-associated VAR_039397 commonName VAR_039397 VAR_039397 disease not phenotype-associated VAR_039399 commonName VAR_039399 VAR_039399 disease not phenotype-associated VAR_039400 commonName VAR_039400 VAR_039400 disease not phenotype-associated VAR_039401 commonName VAR_039401 VAR_039401 disease not phenotype-associated VAR_039402 commonName VAR_039402 VAR_039402 disease not phenotype-associated VAR_039403 commonName VAR_039403 VAR_039403 disease not phenotype-associated VAR_039405 commonName VAR_039405 VAR_039405 disease not phenotype-associated VAR_039407 commonName VAR_039407 VAR_039407 disease not phenotype-associated VAR_039408 commonName VAR_039408 VAR_039408 disease not phenotype-associated VAR_039409 commonName VAR_039409 VAR_039409 disease not phenotype-associated VAR_039410 commonName VAR_039410 VAR_039410 disease not phenotype-associated VAR_039411 commonName VAR_039411 VAR_039411 disease not phenotype-associated VAR_039412 comment A colorectal cancer sample VAR_039412 commonName VAR_039412 VAR_039413 commonName VAR_039413 VAR_039413 disease not phenotype-associated VAR_039414 commonName VAR_039414 VAR_039414 disease not phenotype-associated VAR_039415 commonName VAR_039415 VAR_039415 disease not phenotype-associated VAR_039416 comment A colorectal cancer sample VAR_039416 commonName VAR_039416 VAR_039417 commonName VAR_039417 VAR_039417 disease not phenotype-associated VAR_039418 commonName VAR_039418 VAR_039418 disease not phenotype-associated VAR_039419 commonName VAR_039419 VAR_039419 disease not phenotype-associated VAR_039420 commonName VAR_039420 VAR_039420 disease not phenotype-associated VAR_039421 commonName VAR_039421 VAR_039421 disease not phenotype-associated VAR_039422 commonName VAR_039422 VAR_039422 disease not phenotype-associated VAR_039423 commonName VAR_039423 VAR_039423 disease not phenotype-associated VAR_039424 commonName VAR_039424 VAR_039424 disease not phenotype-associated VAR_039425 commonName VAR_039425 VAR_039425 disease not phenotype-associated VAR_039426 commonName VAR_039426 VAR_039426 disease not phenotype-associated VAR_039427 commonName VAR_039427 VAR_039427 disease not phenotype-associated VAR_039428 commonName VAR_039428 VAR_039428 disease not phenotype-associated VAR_039429 commonName VAR_039429 VAR_039429 disease not phenotype-associated VAR_039430 commonName VAR_039430 VAR_039430 disease not phenotype-associated VAR_039431 commonName VAR_039431 VAR_039431 disease not phenotype-associated VAR_039432 commonName VAR_039432 VAR_039432 disease not phenotype-associated VAR_039433 commonName VAR_039433 VAR_039433 disease not phenotype-associated VAR_039434 commonName VAR_039434 VAR_039434 disease not phenotype-associated VAR_039435 commonName VAR_039435 VAR_039435 disease not phenotype-associated VAR_039436 commonName VAR_039436 VAR_039436 disease not phenotype-associated VAR_039437 commonName VAR_039437 VAR_039437 disease not phenotype-associated VAR_039438 commonName VAR_039438 VAR_039438 disease not phenotype-associated VAR_039439 commonName VAR_039439 VAR_039439 disease not phenotype-associated VAR_039440 commonName VAR_039440 VAR_039440 disease not phenotype-associated VAR_039441 commonName VAR_039441 VAR_039441 disease not phenotype-associated VAR_039442 commonName VAR_039442 VAR_039442 disease not phenotype-associated VAR_039443 commonName VAR_039443 VAR_039443 disease not phenotype-associated VAR_039444 commonName VAR_039444 VAR_039444 disease not phenotype-associated VAR_039445 commonName VAR_039445 VAR_039445 disease not phenotype-associated VAR_039446 commonName VAR_039446 VAR_039446 disease not phenotype-associated VAR_039447 commonName VAR_039447 VAR_039447 disease not phenotype-associated VAR_039448 commonName VAR_039448 VAR_039448 disease not phenotype-associated VAR_039449 commonName VAR_039449 VAR_039449 disease not phenotype-associated VAR_039450 commonName VAR_039450 VAR_039450 disease not phenotype-associated VAR_039451 commonName VAR_039451 VAR_039451 disease not phenotype-associated VAR_039452 commonName VAR_039452 VAR_039452 disease not phenotype-associated VAR_039453 commonName VAR_039453 VAR_039453 disease not phenotype-associated VAR_039454 commonName VAR_039454 VAR_039454 disease not phenotype-associated VAR_039455 commonName VAR_039455 VAR_039455 disease not phenotype-associated VAR_039456 commonName VAR_039456 VAR_039456 disease not phenotype-associated VAR_039457 commonName VAR_039457 VAR_039457 disease not phenotype-associated VAR_039458 commonName VAR_039458 VAR_039458 disease not phenotype-associated VAR_039459 commonName VAR_039459 VAR_039459 disease not phenotype-associated VAR_039460 commonName VAR_039460 VAR_039460 disease not phenotype-associated VAR_039461 commonName VAR_039461 VAR_039461 disease not phenotype-associated VAR_039462 commonName VAR_039462 VAR_039462 disease not phenotype-associated VAR_039463 commonName VAR_039463 VAR_039463 disease not phenotype-associated VAR_039464 commonName VAR_039464 VAR_039464 disease not phenotype-associated VAR_039465 commonName VAR_039465 VAR_039465 disease not phenotype-associated VAR_039466 commonName VAR_039466 VAR_039466 disease not phenotype-associated VAR_039467 commonName VAR_039467 VAR_039467 disease not phenotype-associated VAR_039468 commonName VAR_039468 VAR_039468 disease not phenotype-associated VAR_039470 comment A breast cancer sample VAR_039470 commonName VAR_039470 VAR_039471 commonName VAR_039471 VAR_039471 disease not phenotype-associated VAR_039472 comment A colorectal cancer sample VAR_039472 commonName VAR_039472 VAR_039473 comment A breast cancer sample VAR_039473 commonName VAR_039473 VAR_039474 commonName VAR_039474 VAR_039474 disease phenotype-associated VAR_039474 phenoCommon Hypomagnesemia type 4 (HOMG4) [MIM:611718] VAR_039475 commonName VAR_039475 VAR_039475 disease phenotype-associated VAR_039475 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039476 commonName VAR_039476 VAR_039476 disease phenotype-associated VAR_039476 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039477 commonName VAR_039477 VAR_039477 disease phenotype-associated VAR_039477 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039478 commonName VAR_039478 VAR_039478 disease phenotype-associated VAR_039478 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039479 commonName VAR_039479 VAR_039479 disease phenotype-associated VAR_039479 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039480 commonName VAR_039480 VAR_039480 disease phenotype-associated VAR_039480 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039481 commonName VAR_039481 VAR_039481 disease phenotype-associated VAR_039481 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039482 commonName VAR_039482 VAR_039482 disease phenotype-associated VAR_039482 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039483 commonName VAR_039483 VAR_039483 disease phenotype-associated VAR_039483 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039484 commonName VAR_039484 VAR_039484 disease phenotype-associated VAR_039484 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039485 commonName VAR_039485 VAR_039485 disease phenotype-associated VAR_039485 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039486 commonName VAR_039486 VAR_039486 disease phenotype-associated VAR_039486 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039487 commonName VAR_039487 VAR_039487 disease phenotype-associated VAR_039487 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039488 commonName VAR_039488 VAR_039488 disease phenotype-associated VAR_039488 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039489 commonName VAR_039489 VAR_039489 disease phenotype-associated VAR_039489 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039490 commonName VAR_039490 VAR_039490 disease phenotype-associated VAR_039490 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039491 commonName VAR_039491 VAR_039491 disease phenotype-associated VAR_039491 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039492 commonName VAR_039492 VAR_039492 disease phenotype-associated VAR_039492 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039493 commonName VAR_039493 VAR_039493 disease phenotype-associated VAR_039493 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039494 commonName VAR_039494 VAR_039494 disease not phenotype-associated VAR_039495 commonName VAR_039495 VAR_039495 disease phenotype-associated VAR_039495 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039496 commonName VAR_039496 VAR_039496 disease phenotype-associated VAR_039496 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039497 commonName VAR_039497 VAR_039497 disease phenotype-associated VAR_039497 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039498 commonName VAR_039498 VAR_039498 disease phenotype-associated VAR_039498 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039499 commonName VAR_039499 VAR_039499 disease phenotype-associated VAR_039499 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039500 commonName VAR_039500 VAR_039500 disease phenotype-associated VAR_039500 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039501 commonName VAR_039501 VAR_039501 disease phenotype-associated VAR_039501 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039502 commonName VAR_039502 VAR_039502 disease phenotype-associated VAR_039502 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039503 commonName VAR_039503 VAR_039503 disease phenotype-associated VAR_039503 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039504 commonName VAR_039504 VAR_039504 disease phenotype-associated VAR_039504 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039505 commonName VAR_039505 VAR_039505 disease phenotype-associated VAR_039505 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039506 commonName VAR_039506 VAR_039506 disease phenotype-associated VAR_039506 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039507 commonName VAR_039507 VAR_039507 disease phenotype-associated VAR_039507 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039508 commonName VAR_039508 VAR_039508 disease phenotype-associated VAR_039508 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039509 commonName VAR_039509 VAR_039509 disease phenotype-associated VAR_039509 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039510 commonName VAR_039510 VAR_039510 disease phenotype-associated VAR_039510 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039511 commonName VAR_039511 VAR_039511 disease phenotype-associated VAR_039511 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039512 commonName VAR_039512 VAR_039512 disease phenotype-associated VAR_039512 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039513 commonName VAR_039513 VAR_039513 disease phenotype-associated VAR_039513 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039514 commonName VAR_039514 VAR_039514 disease phenotype-associated VAR_039514 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039515 commonName VAR_039515 VAR_039515 disease phenotype-associated VAR_039515 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039516 commonName VAR_039516 VAR_039516 disease phenotype-associated VAR_039516 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039517 commonName VAR_039517 VAR_039517 disease phenotype-associated VAR_039517 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039518 commonName VAR_039518 VAR_039518 disease phenotype-associated VAR_039518 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039519 commonName VAR_039519 VAR_039519 disease phenotype-associated VAR_039519 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039520 commonName VAR_039520 VAR_039520 disease phenotype-associated VAR_039520 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039521 commonName VAR_039521 VAR_039521 disease phenotype-associated VAR_039521 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039522 commonName VAR_039522 VAR_039522 disease phenotype-associated VAR_039522 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039523 commonName VAR_039523 VAR_039523 disease phenotype-associated VAR_039523 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039524 commonName VAR_039524 VAR_039524 disease phenotype-associated VAR_039524 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039525 commonName VAR_039525 VAR_039525 disease phenotype-associated VAR_039525 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039526 commonName VAR_039526 VAR_039526 disease phenotype-associated VAR_039526 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039527 commonName VAR_039527 VAR_039527 disease phenotype-associated VAR_039527 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039528 commonName VAR_039528 VAR_039528 disease phenotype-associated VAR_039528 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039529 commonName VAR_039529 VAR_039529 disease phenotype-associated VAR_039529 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039530 commonName VAR_039530 VAR_039530 disease phenotype-associated VAR_039530 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039531 commonName VAR_039531 VAR_039531 disease phenotype-associated VAR_039531 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039532 commonName VAR_039532 VAR_039532 disease phenotype-associated VAR_039532 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039533 commonName VAR_039533 VAR_039533 disease phenotype-associated VAR_039533 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039534 commonName VAR_039534 VAR_039534 disease phenotype-associated VAR_039534 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039535 commonName VAR_039535 VAR_039535 disease phenotype-associated VAR_039535 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039536 commonName VAR_039536 VAR_039536 disease phenotype-associated VAR_039536 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039537 commonName VAR_039537 VAR_039537 disease not phenotype-associated VAR_039538 commonName VAR_039538 VAR_039538 disease not phenotype-associated VAR_039539 commonName VAR_039539 VAR_039539 disease phenotype-associated VAR_039539 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039540 commonName VAR_039540 VAR_039540 disease phenotype-associated VAR_039540 phenoCommon Gitelman syndrome (GS) [MIM:263800] VAR_039542 commonName VAR_039542 VAR_039542 disease not phenotype-associated VAR_039546 commonName VAR_039546 VAR_039546 disease not phenotype-associated VAR_039547 commonName VAR_039547 VAR_039547 disease not phenotype-associated VAR_039548 commonName VAR_039548 VAR_039548 disease not phenotype-associated VAR_039549 commonName VAR_039549 VAR_039549 disease not phenotype-associated VAR_039550 commonName VAR_039550 VAR_039550 disease not phenotype-associated VAR_039551 commonName VAR_039551 VAR_039551 disease not phenotype-associated VAR_039552 commonName VAR_039552 VAR_039552 disease not phenotype-associated VAR_039553 commonName VAR_039553 VAR_039553 disease not phenotype-associated VAR_039554 commonName VAR_039554 VAR_039554 disease not phenotype-associated VAR_039555 commonName VAR_039555 VAR_039555 disease not phenotype-associated VAR_039556 commonName VAR_039556 VAR_039556 disease not phenotype-associated VAR_039557 commonName VAR_039557 VAR_039557 disease not phenotype-associated VAR_039558 commonName VAR_039558 VAR_039558 disease not phenotype-associated VAR_039559 commonName VAR_039559 VAR_039559 disease not phenotype-associated VAR_039560 commonName VAR_039560 VAR_039560 disease not phenotype-associated VAR_039561 commonName VAR_039561 VAR_039561 disease not phenotype-associated VAR_039562 commonName VAR_039562 VAR_039562 disease phenotype-associated VAR_039562 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_039563 commonName VAR_039563 VAR_039563 disease phenotype-associated VAR_039563 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_039566 commonName VAR_039566 VAR_039566 disease not phenotype-associated VAR_039567 commonName VAR_039567 VAR_039567 disease not phenotype-associated VAR_039568 commonName VAR_039568 VAR_039568 disease not phenotype-associated VAR_039569 commonName VAR_039569 VAR_039569 disease not phenotype-associated VAR_039570 commonName VAR_039570 VAR_039570 disease not phenotype-associated VAR_039571 commonName VAR_039571 VAR_039571 disease not phenotype-associated VAR_039572 commonName VAR_039572 VAR_039572 disease not phenotype-associated VAR_039574 commonName VAR_039574 VAR_039574 disease not phenotype-associated VAR_039575 commonName VAR_039575 VAR_039575 disease not phenotype-associated VAR_039576 commonName VAR_039576 VAR_039576 disease not phenotype-associated VAR_039577 commonName VAR_039577 VAR_039577 disease not phenotype-associated VAR_039578 commonName VAR_039578 VAR_039578 disease not phenotype-associated VAR_039579 commonName VAR_039579 VAR_039579 disease not phenotype-associated VAR_039580 commonName VAR_039580 VAR_039580 disease not phenotype-associated VAR_039582 commonName VAR_039582 VAR_039582 disease not phenotype-associated VAR_039583 commonName VAR_039583 VAR_039583 disease not phenotype-associated VAR_039584 commonName VAR_039584 VAR_039584 disease not phenotype-associated VAR_039585 commonName VAR_039585 VAR_039585 disease not phenotype-associated VAR_039586 comment A breast cancer sample VAR_039586 commonName VAR_039586 VAR_039587 commonName VAR_039587 VAR_039587 disease phenotype-associated VAR_039587 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039588 commonName VAR_039588 VAR_039588 disease phenotype-associated VAR_039588 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039589 commonName VAR_039589 VAR_039589 disease phenotype-associated VAR_039589 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039590 commonName VAR_039590 VAR_039590 disease phenotype-associated VAR_039590 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039591 commonName VAR_039591 VAR_039591 disease phenotype-associated VAR_039591 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039592 commonName VAR_039592 VAR_039592 disease phenotype-associated VAR_039592 phenoCommon Familial isolated hyperparathyroidism (FIHP) [MIM:145000] VAR_039592 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039593 commonName VAR_039593 VAR_039593 disease phenotype-associated VAR_039593 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039594 commonName VAR_039594 VAR_039594 disease phenotype-associated VAR_039594 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039595 commonName VAR_039595 VAR_039595 disease phenotype-associated VAR_039595 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039596 commonName VAR_039596 VAR_039596 disease phenotype-associated VAR_039596 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039597 commonName VAR_039597 VAR_039597 disease phenotype-associated VAR_039597 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039598 commonName VAR_039598 VAR_039598 disease phenotype-associated VAR_039598 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039599 commonName VAR_039599 VAR_039599 disease phenotype-associated VAR_039599 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039600 commonName VAR_039600 VAR_039600 disease phenotype-associated VAR_039600 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039601 commonName VAR_039601 VAR_039601 disease phenotype-associated VAR_039601 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039602 commonName VAR_039602 VAR_039602 disease phenotype-associated VAR_039602 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039603 commonName VAR_039603 VAR_039603 disease phenotype-associated VAR_039603 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039604 commonName VAR_039604 VAR_039604 disease phenotype-associated VAR_039604 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039605 commonName VAR_039605 VAR_039605 disease phenotype-associated VAR_039605 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039606 commonName VAR_039606 VAR_039606 disease phenotype-associated VAR_039606 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039607 commonName VAR_039607 VAR_039607 disease phenotype-associated VAR_039607 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039608 commonName VAR_039608 VAR_039608 disease phenotype-associated VAR_039608 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039609 commonName VAR_039609 VAR_039609 disease phenotype-associated VAR_039609 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039610 comment Parathyroid tumor VAR_039610 commonName VAR_039610 VAR_039611 commonName VAR_039611 VAR_039611 disease phenotype-associated VAR_039611 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039612 commonName VAR_039612 VAR_039612 disease phenotype-associated VAR_039612 phenoCommon Familial isolated hyperparathyroidism (FIHP) [MIM:145000] VAR_039614 comment Parathyroid tumor VAR_039614 commonName VAR_039614 VAR_039615 commonName VAR_039615 VAR_039615 disease phenotype-associated VAR_039615 phenoCommon Familial isolated hyperparathyroidism (FIHP) [MIM:145000] VAR_039616 commonName VAR_039616 VAR_039616 disease phenotype-associated VAR_039616 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039617 comment Parathyroid tumor VAR_039617 commonName VAR_039617 VAR_039618 commonName VAR_039618 VAR_039618 disease phenotype-associated VAR_039618 phenoCommon Familial isolated hyperparathyroidism (FIHP) [MIM:145000] VAR_039619 commonName VAR_039619 VAR_039619 disease phenotype-associated VAR_039619 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039620 commonName VAR_039620 VAR_039620 disease phenotype-associated VAR_039620 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039621 commonName VAR_039621 VAR_039621 disease phenotype-associated VAR_039621 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039622 commonName VAR_039622 VAR_039622 disease phenotype-associated VAR_039622 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039623 commonName VAR_039623 VAR_039623 disease phenotype-associated VAR_039623 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039624 commonName VAR_039624 VAR_039624 disease phenotype-associated VAR_039624 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039625 commonName VAR_039625 VAR_039625 disease phenotype-associated VAR_039625 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039626 commonName VAR_039626 VAR_039626 disease phenotype-associated VAR_039626 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039627 commonName VAR_039627 VAR_039627 disease phenotype-associated VAR_039627 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039628 commonName VAR_039628 VAR_039628 disease phenotype-associated VAR_039628 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039629 commonName VAR_039629 VAR_039629 disease phenotype-associated VAR_039629 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039630 commonName VAR_039630 VAR_039630 disease phenotype-associated VAR_039630 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039631 commonName VAR_039631 VAR_039631 disease phenotype-associated VAR_039631 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039632 commonName VAR_039632 VAR_039632 disease phenotype-associated VAR_039632 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039633 commonName VAR_039633 VAR_039633 disease phenotype-associated VAR_039633 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039634 commonName VAR_039634 VAR_039634 disease phenotype-associated VAR_039634 phenoCommon Familial isolated hyperparathyroidism (FIHP) [MIM:145000] VAR_039634 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039635 commonName VAR_039635 VAR_039635 disease phenotype-associated VAR_039635 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039636 commonName VAR_039636 VAR_039636 disease phenotype-associated VAR_039636 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039637 commonName VAR_039637 VAR_039637 disease phenotype-associated VAR_039637 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039638 commonName VAR_039638 VAR_039638 disease phenotype-associated VAR_039638 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039639 commonName VAR_039639 VAR_039639 disease phenotype-associated VAR_039639 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039640 commonName VAR_039640 VAR_039640 disease phenotype-associated VAR_039640 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039641 commonName VAR_039641 VAR_039641 disease phenotype-associated VAR_039641 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039642 commonName VAR_039642 VAR_039642 disease phenotype-associated VAR_039642 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039643 commonName VAR_039643 VAR_039643 disease phenotype-associated VAR_039643 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039644 commonName VAR_039644 VAR_039644 disease phenotype-associated VAR_039644 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039645 commonName VAR_039645 VAR_039645 disease phenotype-associated VAR_039645 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039646 commonName VAR_039646 VAR_039647 commonName VAR_039647 VAR_039647 disease phenotype-associated VAR_039647 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_039648 commonName VAR_039648 VAR_039648 disease not phenotype-associated VAR_039649 commonName VAR_039649 VAR_039649 disease not phenotype-associated VAR_039650 commonName VAR_039650 VAR_039650 disease not phenotype-associated VAR_039651 commonName VAR_039651 VAR_039651 disease not phenotype-associated VAR_039652 commonName VAR_039652 VAR_039652 disease not phenotype-associated VAR_039653 commonName VAR_039653 VAR_039653 disease not phenotype-associated VAR_039654 commonName VAR_039654 VAR_039654 disease not phenotype-associated VAR_039655 commonName VAR_039655 VAR_039655 disease not phenotype-associated VAR_039656 commonName VAR_039656 VAR_039656 disease not phenotype-associated VAR_039657 commonName VAR_039657 VAR_039657 disease not phenotype-associated VAR_039658 commonName VAR_039658 VAR_039658 disease not phenotype-associated VAR_039659 commonName VAR_039659 VAR_039659 disease not phenotype-associated VAR_039660 commonName VAR_039660 VAR_039660 disease not phenotype-associated VAR_039661 commonName VAR_039661 VAR_039661 disease not phenotype-associated VAR_039662 commonName VAR_039662 VAR_039662 disease not phenotype-associated VAR_039663 commonName VAR_039663 VAR_039663 disease not phenotype-associated VAR_039664 commonName VAR_039664 VAR_039664 disease not phenotype-associated VAR_039665 commonName VAR_039665 VAR_039665 disease not phenotype-associated VAR_039666 commonName VAR_039666 VAR_039666 disease not phenotype-associated VAR_039667 commonName VAR_039667 VAR_039667 disease not phenotype-associated VAR_039668 commonName VAR_039668 VAR_039668 disease not phenotype-associated VAR_039669 commonName VAR_039669 VAR_039669 disease not phenotype-associated VAR_039670 commonName VAR_039670 VAR_039670 disease not phenotype-associated VAR_039671 commonName VAR_039671 VAR_039671 disease not phenotype-associated VAR_039672 commonName VAR_039672 VAR_039672 disease not phenotype-associated VAR_039673 commonName VAR_039673 VAR_039673 disease not phenotype-associated VAR_039674 commonName VAR_039674 VAR_039675 commonName VAR_039675 VAR_039675 disease not phenotype-associated VAR_039676 commonName VAR_039676 VAR_039676 disease not phenotype-associated VAR_039677 commonName VAR_039677 VAR_039677 disease not phenotype-associated VAR_039678 commonName VAR_039678 VAR_039679 commonName VAR_039679 VAR_039679 disease not phenotype-associated VAR_039680 commonName VAR_039680 VAR_039680 disease not phenotype-associated VAR_039681 commonName VAR_039681 VAR_039681 disease not phenotype-associated VAR_039682 commonName VAR_039682 VAR_039682 disease not phenotype-associated VAR_039683 commonName VAR_039683 VAR_039683 disease not phenotype-associated VAR_039684 commonName VAR_039684 VAR_039684 disease not phenotype-associated VAR_039686 commonName VAR_039686 VAR_039686 disease phenotype-associated VAR_039686 phenoCommon Papillon-Lefevre syndrome (PLS) [MIM:245000] VAR_039687 commonName VAR_039687 VAR_039687 disease not phenotype-associated VAR_039688 commonName VAR_039688 VAR_039688 disease not phenotype-associated VAR_039689 commonName VAR_039689 VAR_039689 disease not phenotype-associated VAR_039690 commonName VAR_039690 VAR_039690 disease not phenotype-associated VAR_039691 commonName VAR_039691 VAR_039691 disease not phenotype-associated VAR_039692 commonName VAR_039692 VAR_039692 disease not phenotype-associated VAR_039693 commonName VAR_039693 VAR_039693 disease not phenotype-associated VAR_039694 commonName VAR_039694 VAR_039694 disease not phenotype-associated VAR_039695 commonName VAR_039695 VAR_039695 disease not phenotype-associated VAR_039696 commonName VAR_039696 VAR_039696 disease not phenotype-associated VAR_039697 commonName VAR_039697 VAR_039697 disease not phenotype-associated VAR_039698 commonName VAR_039698 VAR_039698 disease not phenotype-associated VAR_039699 commonName VAR_039699 VAR_039699 disease not phenotype-associated VAR_039700 commonName VAR_039700 VAR_039700 disease not phenotype-associated VAR_039701 commonName VAR_039701 VAR_039701 disease not phenotype-associated VAR_039702 commonName VAR_039702 VAR_039702 disease not phenotype-associated VAR_039703 commonName VAR_039703 VAR_039703 disease not phenotype-associated VAR_039705 commonName VAR_039705 VAR_039705 disease not phenotype-associated VAR_039706 commonName VAR_039706 VAR_039706 disease not phenotype-associated VAR_039707 commonName VAR_039707 VAR_039707 disease not phenotype-associated VAR_039708 commonName VAR_039708 VAR_039708 disease not phenotype-associated VAR_039709 commonName VAR_039709 VAR_039709 disease not phenotype-associated VAR_039710 commonName VAR_039710 VAR_039710 disease not phenotype-associated VAR_039711 commonName VAR_039711 VAR_039711 disease not phenotype-associated VAR_039712 commonName VAR_039712 VAR_039712 disease not phenotype-associated VAR_039713 commonName VAR_039713 VAR_039713 disease not phenotype-associated VAR_039714 commonName VAR_039714 VAR_039714 disease not phenotype-associated VAR_039715 commonName VAR_039715 VAR_039715 disease not phenotype-associated VAR_039716 commonName VAR_039716 VAR_039716 disease not phenotype-associated VAR_039717 commonName VAR_039717 VAR_039717 disease not phenotype-associated VAR_039718 commonName VAR_039718 VAR_039718 disease not phenotype-associated VAR_039719 commonName VAR_039719 VAR_039719 disease not phenotype-associated VAR_039720 commonName VAR_039720 VAR_039720 disease not phenotype-associated VAR_039721 commonName VAR_039721 VAR_039721 disease not phenotype-associated VAR_039722 commonName VAR_039722 VAR_039722 disease not phenotype-associated VAR_039723 commonName VAR_039723 VAR_039723 disease not phenotype-associated VAR_039724 commonName VAR_039724 VAR_039724 disease not phenotype-associated VAR_039725 commonName VAR_039725 VAR_039725 disease not phenotype-associated VAR_039726 commonName VAR_039726 VAR_039726 disease not phenotype-associated VAR_039727 commonName VAR_039727 VAR_039727 disease not phenotype-associated VAR_039728 commonName VAR_039728 VAR_039728 disease not phenotype-associated VAR_039729 commonName VAR_039729 VAR_039729 disease not phenotype-associated VAR_039730 commonName VAR_039730 VAR_039730 disease not phenotype-associated VAR_039731 commonName VAR_039731 VAR_039731 disease not phenotype-associated VAR_039734 commonName VAR_039734 VAR_039734 disease not phenotype-associated VAR_039735 commonName VAR_039735 VAR_039735 disease not phenotype-associated VAR_039736 commonName VAR_039736 VAR_039736 disease not phenotype-associated VAR_039737 commonName VAR_039737 VAR_039737 disease not phenotype-associated VAR_039738 commonName VAR_039738 VAR_039738 disease not phenotype-associated VAR_039739 commonName VAR_039739 VAR_039739 disease not phenotype-associated VAR_039740 commonName VAR_039740 VAR_039740 disease not phenotype-associated VAR_039741 commonName VAR_039741 VAR_039741 disease not phenotype-associated VAR_039742 commonName VAR_039742 VAR_039742 disease not phenotype-associated VAR_039745 commonName VAR_039745 VAR_039745 disease not phenotype-associated VAR_039746 commonName VAR_039746 VAR_039746 disease phenotype-associated VAR_039746 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_039747 commonName VAR_039747 VAR_039747 disease phenotype-associated VAR_039747 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_039748 commonName VAR_039748 VAR_039748 disease phenotype-associated VAR_039748 phenoCommon Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660] VAR_039750 commonName VAR_039750 VAR_039750 disease not phenotype-associated VAR_039751 commonName VAR_039751 VAR_039751 disease phenotype-associated VAR_039751 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_039752 commonName VAR_039752 VAR_039752 disease phenotype-associated VAR_039752 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_039753 commonName VAR_039753 VAR_039753 disease phenotype-associated VAR_039753 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_039754 commonName VAR_039754 VAR_039754 disease phenotype-associated VAR_039754 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_039755 commonName VAR_039755 VAR_039755 disease phenotype-associated VAR_039755 phenoCommon Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660] VAR_039756 commonName VAR_039756 VAR_039756 disease phenotype-associated VAR_039756 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_039757 commonName VAR_039757 VAR_039757 disease phenotype-associated VAR_039757 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_039758 commonName VAR_039758 VAR_039758 disease phenotype-associated VAR_039758 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] VAR_039759 commonName VAR_039759 VAR_039759 disease phenotype-associated VAR_039759 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] VAR_039760 commonName VAR_039760 VAR_039760 disease phenotype-associated VAR_039760 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_039761 commonName VAR_039761 VAR_039761 disease phenotype-associated VAR_039761 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] VAR_039762 commonName VAR_039762 VAR_039762 disease phenotype-associated VAR_039762 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_039763 commonName VAR_039763 VAR_039763 disease phenotype-associated VAR_039763 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_039764 commonName VAR_039764 VAR_039764 disease phenotype-associated VAR_039764 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] VAR_039765 commonName VAR_039765 VAR_039765 disease phenotype-associated VAR_039765 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] VAR_039767 commonName VAR_039767 VAR_039767 disease phenotype-associated VAR_039767 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] VAR_039768 commonName VAR_039768 VAR_039768 disease phenotype-associated VAR_039768 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] VAR_039769 commonName VAR_039769 VAR_039769 disease phenotype-associated VAR_039769 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_039770 commonName VAR_039770 VAR_039770 disease phenotype-associated VAR_039770 phenoCommon Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660] VAR_039771 commonName VAR_039771 VAR_039771 disease phenotype-associated VAR_039771 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_039772 commonName VAR_039772 VAR_039772 disease phenotype-associated VAR_039772 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_039773 commonName VAR_039773 VAR_039774 commonName VAR_039774 VAR_039774 disease phenotype-associated VAR_039774 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_039775 commonName VAR_039775 VAR_039775 disease phenotype-associated VAR_039775 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] VAR_039776 commonName VAR_039776 VAR_039776 disease phenotype-associated VAR_039776 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] VAR_039777 commonName VAR_039777 VAR_039777 disease phenotype-associated VAR_039777 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_039777 phenoCommon Limb-girdle muscular dystrophy type 1B (LGMD1B) [MIM:159001] VAR_039778 commonName VAR_039778 VAR_039778 disease phenotype-associated VAR_039778 phenoCommon Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660] VAR_039779 commonName VAR_039779 VAR_039779 disease phenotype-associated VAR_039779 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] VAR_039780 commonName VAR_039780 VAR_039780 disease phenotype-associated VAR_039780 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_039781 commonName VAR_039781 VAR_039781 disease phenotype-associated VAR_039781 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_039782 commonName VAR_039782 VAR_039782 disease phenotype-associated VAR_039782 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_039783 commonName VAR_039783 VAR_039783 disease phenotype-associated VAR_039783 phenoCommon Limb-girdle muscular dystrophy type 1B (LGMD1B) [MIM:159001] VAR_039784 commonName VAR_039784 VAR_039784 disease phenotype-associated VAR_039784 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_039785 commonName VAR_039785 VAR_039785 disease phenotype-associated VAR_039785 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_039786 commonName VAR_039786 VAR_039787 commonName VAR_039787 VAR_039787 disease phenotype-associated VAR_039787 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_039788 commonName VAR_039788 VAR_039788 disease phenotype-associated VAR_039788 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] VAR_039788 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_039789 commonName VAR_039789 VAR_039789 disease phenotype-associated VAR_039789 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] VAR_039789 phenoCommon Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660] VAR_039789 phenoCommon Mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370] VAR_039790 commonName VAR_039790 VAR_039791 commonName VAR_039791 VAR_039791 disease phenotype-associated VAR_039791 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_039792 commonName VAR_039792 VAR_039793 commonName VAR_039793 VAR_039793 disease not phenotype-associated VAR_039794 commonName VAR_039794 VAR_039794 disease not phenotype-associated VAR_039795 commonName VAR_039795 VAR_039795 disease not phenotype-associated VAR_039796 commonName VAR_039796 VAR_039796 disease not phenotype-associated VAR_039797 commonName VAR_039797 VAR_039797 disease not phenotype-associated VAR_039798 commonName VAR_039798 VAR_039798 disease not phenotype-associated VAR_039799 commonName VAR_039799 VAR_039799 disease not phenotype-associated VAR_039800 commonName VAR_039800 VAR_039800 disease not phenotype-associated VAR_039803 comment A breast cancer sample VAR_039803 commonName VAR_039803 VAR_039804 commonName VAR_039804 VAR_039804 disease not phenotype-associated VAR_039805 commonName VAR_039805 VAR_039805 disease not phenotype-associated VAR_039806 comment A colorectal cancer sample VAR_039806 commonName VAR_039806 VAR_039807 commonName VAR_039807 VAR_039807 disease not phenotype-associated VAR_039808 commonName VAR_039808 VAR_039808 disease not phenotype-associated VAR_039809 commonName VAR_039809 VAR_039809 disease not phenotype-associated VAR_039812 commonName VAR_039812 VAR_039812 disease not phenotype-associated VAR_039813 comment A colorectal cancer sample VAR_039813 commonName VAR_039813 VAR_039814 commonName VAR_039814 VAR_039814 disease not phenotype-associated VAR_039815 commonName VAR_039815 VAR_039815 disease not phenotype-associated VAR_039816 commonName VAR_039816 VAR_039816 disease not phenotype-associated VAR_039817 commonName VAR_039817 VAR_039817 disease not phenotype-associated VAR_039818 commonName VAR_039818 VAR_039818 disease not phenotype-associated VAR_039819 commonName VAR_039819 VAR_039819 disease not phenotype-associated VAR_039820 commonName VAR_039820 VAR_039820 disease not phenotype-associated VAR_039821 commonName VAR_039821 VAR_039821 disease not phenotype-associated VAR_039822 commonName VAR_039822 VAR_039822 disease not phenotype-associated VAR_039823 commonName VAR_039823 VAR_039823 disease not phenotype-associated VAR_039824 commonName VAR_039824 VAR_039824 disease not phenotype-associated VAR_039825 commonName VAR_039825 VAR_039825 disease not phenotype-associated VAR_039826 commonName VAR_039826 VAR_039826 disease not phenotype-associated VAR_039827 commonName VAR_039827 VAR_039827 disease not phenotype-associated VAR_039831 commonName VAR_039831 VAR_039831 disease not phenotype-associated VAR_039832 commonName VAR_039832 VAR_039832 disease not phenotype-associated VAR_039833 commonName VAR_039833 VAR_039833 disease not phenotype-associated VAR_039834 commonName VAR_039834 VAR_039834 disease not phenotype-associated VAR_039835 commonName VAR_039835 VAR_039835 disease not phenotype-associated VAR_039836 commonName VAR_039836 VAR_039836 disease not phenotype-associated VAR_039837 commonName VAR_039837 VAR_039837 disease not phenotype-associated VAR_039838 commonName VAR_039838 VAR_039838 disease not phenotype-associated VAR_039839 commonName VAR_039839 VAR_039839 disease not phenotype-associated VAR_039840 commonName VAR_039840 VAR_039840 disease not phenotype-associated VAR_039841 commonName VAR_039841 VAR_039841 disease not phenotype-associated VAR_039842 commonName VAR_039842 VAR_039842 disease not phenotype-associated VAR_039843 commonName VAR_039843 VAR_039843 disease not phenotype-associated VAR_039844 commonName VAR_039844 VAR_039844 disease not phenotype-associated VAR_039845 commonName VAR_039845 VAR_039845 disease not phenotype-associated VAR_039846 commonName VAR_039846 VAR_039846 disease not phenotype-associated VAR_039849 comment A colorectal cancer sample VAR_039849 commonName VAR_039849 VAR_039850 comment A colorectal cancer sample VAR_039850 commonName VAR_039850 VAR_039860 commonName VAR_039860 VAR_039860 disease not phenotype-associated VAR_039861 commonName VAR_039861 VAR_039861 disease not phenotype-associated VAR_039862 commonName VAR_039862 VAR_039862 disease not phenotype-associated VAR_039863 commonName VAR_039863 VAR_039863 disease not phenotype-associated VAR_039864 commonName VAR_039864 VAR_039864 disease not phenotype-associated VAR_039865 commonName VAR_039865 VAR_039865 disease not phenotype-associated VAR_039866 commonName VAR_039866 VAR_039866 disease not phenotype-associated VAR_039867 commonName VAR_039867 VAR_039867 disease not phenotype-associated VAR_039871 commonName VAR_039871 VAR_039871 disease not phenotype-associated VAR_039872 commonName VAR_039872 VAR_039872 disease not phenotype-associated VAR_039873 commonName VAR_039873 VAR_039873 disease not phenotype-associated VAR_039874 commonName VAR_039874 VAR_039874 disease not phenotype-associated VAR_039875 commonName VAR_039875 VAR_039875 disease not phenotype-associated VAR_039876 commonName VAR_039876 VAR_039876 disease not phenotype-associated VAR_039877 commonName VAR_039877 VAR_039877 disease not phenotype-associated VAR_039878 commonName VAR_039878 VAR_039878 disease not phenotype-associated VAR_039879 commonName VAR_039879 VAR_039879 disease not phenotype-associated VAR_039880 commonName VAR_039880 VAR_039880 disease not phenotype-associated VAR_039881 commonName VAR_039881 VAR_039881 disease not phenotype-associated VAR_039882 commonName VAR_039882 VAR_039882 disease not phenotype-associated VAR_039883 commonName VAR_039883 VAR_039883 disease not phenotype-associated VAR_039884 commonName VAR_039884 VAR_039884 disease not phenotype-associated VAR_039885 commonName VAR_039885 VAR_039885 disease not phenotype-associated VAR_039886 commonName VAR_039886 VAR_039886 disease not phenotype-associated VAR_039888 commonName VAR_039888 VAR_039888 disease phenotype-associated VAR_039888 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_039889 commonName VAR_039889 VAR_039889 disease phenotype-associated VAR_039889 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_039890 commonName VAR_039890 VAR_039890 disease phenotype-associated VAR_039890 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_039891 commonName VAR_039891 VAR_039891 disease phenotype-associated VAR_039891 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_039892 commonName VAR_039892 VAR_039892 disease phenotype-associated VAR_039892 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_039893 commonName VAR_039893 VAR_039893 disease phenotype-associated VAR_039893 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_039894 commonName VAR_039894 VAR_039894 disease phenotype-associated VAR_039894 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_039899 commonName VAR_039899 VAR_039899 disease not phenotype-associated VAR_039900 commonName VAR_039900 VAR_039900 disease not phenotype-associated VAR_039901 commonName VAR_039901 VAR_039901 disease not phenotype-associated VAR_039902 commonName VAR_039902 VAR_039902 disease not phenotype-associated VAR_039903 commonName VAR_039903 VAR_039903 disease not phenotype-associated VAR_039904 commonName VAR_039904 VAR_039904 disease not phenotype-associated VAR_039905 commonName VAR_039905 VAR_039905 disease not phenotype-associated VAR_039906 commonName VAR_039906 VAR_039906 disease not phenotype-associated VAR_039907 commonName VAR_039907 VAR_039907 disease not phenotype-associated VAR_039908 commonName VAR_039908 VAR_039908 disease not phenotype-associated VAR_039909 commonName VAR_039909 VAR_039909 disease not phenotype-associated VAR_039910 commonName VAR_039910 VAR_039910 disease not phenotype-associated VAR_039911 commonName VAR_039911 VAR_039911 disease not phenotype-associated VAR_039912 commonName VAR_039912 VAR_039912 disease not phenotype-associated VAR_039913 commonName VAR_039913 VAR_039913 disease not phenotype-associated VAR_039914 commonName VAR_039914 VAR_039914 disease not phenotype-associated VAR_039915 commonName VAR_039915 VAR_039915 disease not phenotype-associated VAR_039916 comment A colorectal cancer sample VAR_039916 commonName VAR_039916 VAR_039917 commonName VAR_039917 VAR_039917 disease not phenotype-associated VAR_039918 commonName VAR_039918 VAR_039918 disease not phenotype-associated VAR_039919 commonName VAR_039919 VAR_039919 disease not phenotype-associated VAR_039920 commonName VAR_039920 VAR_039920 disease not phenotype-associated VAR_039921 commonName VAR_039921 VAR_039921 disease not phenotype-associated VAR_039922 commonName VAR_039922 VAR_039922 disease not phenotype-associated VAR_039923 commonName VAR_039923 VAR_039923 disease not phenotype-associated VAR_039924 commonName VAR_039924 VAR_039924 disease not phenotype-associated VAR_039925 commonName VAR_039925 VAR_039925 disease not phenotype-associated VAR_039926 commonName VAR_039926 VAR_039926 disease not phenotype-associated VAR_039927 commonName VAR_039927 VAR_039927 disease not phenotype-associated VAR_039928 commonName VAR_039928 VAR_039928 disease not phenotype-associated VAR_039929 commonName VAR_039929 VAR_039929 disease not phenotype-associated VAR_039930 commonName VAR_039930 VAR_039930 disease not phenotype-associated VAR_039931 commonName VAR_039931 VAR_039931 disease not phenotype-associated VAR_039932 commonName VAR_039932 VAR_039932 disease not phenotype-associated VAR_039933 commonName VAR_039933 VAR_039933 disease not phenotype-associated VAR_039935 commonName VAR_039935 VAR_039935 disease not phenotype-associated VAR_039936 commonName VAR_039936 VAR_039936 disease not phenotype-associated VAR_039937 commonName VAR_039937 VAR_039937 disease not phenotype-associated VAR_039938 comment A colorectal cancer sample VAR_039938 commonName VAR_039938 VAR_039939 commonName VAR_039939 VAR_039939 disease not phenotype-associated VAR_039940 commonName VAR_039940 VAR_039940 disease not phenotype-associated VAR_039941 commonName VAR_039941 VAR_039941 disease not phenotype-associated VAR_039942 commonName VAR_039942 VAR_039942 disease not phenotype-associated VAR_039943 commonName VAR_039943 VAR_039943 disease not phenotype-associated VAR_039944 commonName VAR_039944 VAR_039944 disease not phenotype-associated VAR_039945 commonName VAR_039945 VAR_039945 disease not phenotype-associated VAR_039948 commonName VAR_039948 VAR_039948 disease not phenotype-associated VAR_039949 commonName VAR_039949 VAR_039949 disease not phenotype-associated VAR_039950 commonName VAR_039950 VAR_039950 disease not phenotype-associated VAR_039951 commonName VAR_039951 VAR_039951 disease not phenotype-associated VAR_039952 commonName VAR_039952 VAR_039952 disease not phenotype-associated VAR_039953 commonName VAR_039953 VAR_039953 disease not phenotype-associated VAR_039954 commonName VAR_039954 VAR_039954 disease not phenotype-associated VAR_039956 commonName VAR_039956 VAR_039956 disease not phenotype-associated VAR_039957 commonName VAR_039957 VAR_039957 disease not phenotype-associated VAR_039958 commonName VAR_039958 VAR_039958 disease not phenotype-associated VAR_039959 commonName VAR_039959 VAR_039959 disease not phenotype-associated VAR_039960 comment A colorectal cancer sample VAR_039960 commonName VAR_039960 VAR_039961 commonName VAR_039961 VAR_039961 disease not phenotype-associated VAR_039962 commonName VAR_039962 VAR_039962 disease not phenotype-associated VAR_039963 commonName VAR_039963 VAR_039963 disease not phenotype-associated VAR_039964 commonName VAR_039964 VAR_039964 disease not phenotype-associated VAR_039969 commonName VAR_039969 VAR_039969 disease not phenotype-associated VAR_039970 commonName VAR_039970 VAR_039970 disease not phenotype-associated VAR_039971 commonName VAR_039971 VAR_039971 disease not phenotype-associated VAR_039972 commonName VAR_039972 VAR_039972 disease not phenotype-associated VAR_039973 commonName VAR_039973 VAR_039973 disease not phenotype-associated VAR_039974 commonName VAR_039974 VAR_039974 disease not phenotype-associated VAR_039979 commonName VAR_039979 VAR_039979 disease not phenotype-associated VAR_039980 comment A colorectal cancer sample VAR_039980 commonName VAR_039980 VAR_039981 commonName VAR_039981 VAR_039981 disease not phenotype-associated VAR_039982 commonName VAR_039982 VAR_039982 disease not phenotype-associated VAR_039983 commonName VAR_039983 VAR_039983 disease not phenotype-associated VAR_039985 commonName VAR_039985 VAR_039985 disease not phenotype-associated VAR_039986 commonName VAR_039986 VAR_039986 disease not phenotype-associated VAR_039988 commonName VAR_039988 VAR_039988 disease not phenotype-associated VAR_039989 commonName VAR_039989 VAR_039989 disease not phenotype-associated VAR_039990 commonName VAR_039990 VAR_039990 disease not phenotype-associated VAR_039991 commonName VAR_039991 VAR_039991 disease not phenotype-associated VAR_039998 commonName VAR_039998 VAR_039998 disease not phenotype-associated VAR_039999 commonName VAR_039999 VAR_039999 disease not phenotype-associated VAR_040000 commonName VAR_040000 VAR_040000 disease not phenotype-associated VAR_040001 commonName VAR_040001 VAR_040001 disease not phenotype-associated VAR_040002 commonName VAR_040002 VAR_040002 disease not phenotype-associated VAR_040004 commonName VAR_040004 VAR_040004 disease not phenotype-associated VAR_040005 commonName VAR_040005 VAR_040005 disease not phenotype-associated VAR_040006 commonName VAR_040006 VAR_040006 disease not phenotype-associated VAR_040007 commonName VAR_040007 VAR_040007 disease not phenotype-associated VAR_040008 commonName VAR_040008 VAR_040008 disease not phenotype-associated VAR_040009 commonName VAR_040009 VAR_040009 disease not phenotype-associated VAR_040010 commonName VAR_040010 VAR_040010 disease not phenotype-associated VAR_040012 commonName VAR_040012 VAR_040012 disease phenotype-associated VAR_040012 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] VAR_040013 commonName VAR_040013 VAR_040013 disease phenotype-associated VAR_040013 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] VAR_040014 commonName VAR_040014 VAR_040014 disease phenotype-associated VAR_040014 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] VAR_040015 commonName VAR_040015 VAR_040015 disease phenotype-associated VAR_040015 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] VAR_040016 commonName VAR_040016 VAR_040016 disease phenotype-associated VAR_040016 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] VAR_040017 commonName VAR_040017 VAR_040017 disease phenotype-associated VAR_040017 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] VAR_040018 commonName VAR_040018 VAR_040018 disease phenotype-associated VAR_040018 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] VAR_040019 commonName VAR_040019 VAR_040019 disease phenotype-associated VAR_040019 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] VAR_040020 commonName VAR_040020 VAR_040020 disease phenotype-associated VAR_040020 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] VAR_040021 commonName VAR_040021 VAR_040021 disease phenotype-associated VAR_040021 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] VAR_040022 commonName VAR_040022 VAR_040022 disease phenotype-associated VAR_040022 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] VAR_040023 commonName VAR_040023 VAR_040023 disease phenotype-associated VAR_040023 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] VAR_040024 commonName VAR_040024 VAR_040024 disease phenotype-associated VAR_040024 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] VAR_040025 commonName VAR_040025 VAR_040025 disease phenotype-associated VAR_040025 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] VAR_040026 commonName VAR_040026 VAR_040026 disease phenotype-associated VAR_040026 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] VAR_040027 commonName VAR_040027 VAR_040027 disease phenotype-associated VAR_040027 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] VAR_040028 commonName VAR_040028 VAR_040028 disease phenotype-associated VAR_040028 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] VAR_040029 commonName VAR_040029 VAR_040029 disease not phenotype-associated VAR_040030 commonName VAR_040030 VAR_040030 disease phenotype-associated VAR_040030 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] VAR_040031 commonName VAR_040031 VAR_040031 disease phenotype-associated VAR_040031 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] VAR_040032 commonName VAR_040032 VAR_040032 disease phenotype-associated VAR_040032 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] VAR_040033 commonName VAR_040033 VAR_040033 disease phenotype-associated VAR_040033 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] VAR_040034 commonName VAR_040034 VAR_040034 disease phenotype-associated VAR_040034 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] VAR_040035 commonName VAR_040035 VAR_040035 disease phenotype-associated VAR_040035 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] VAR_040036 commonName VAR_040036 VAR_040036 disease phenotype-associated VAR_040036 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] VAR_040037 commonName VAR_040037 VAR_040037 disease phenotype-associated VAR_040037 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] VAR_040038 commonName VAR_040038 VAR_040038 disease phenotype-associated VAR_040038 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] VAR_040039 commonName VAR_040039 VAR_040039 disease phenotype-associated VAR_040039 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] VAR_040040 commonName VAR_040040 VAR_040040 disease phenotype-associated VAR_040040 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] VAR_040041 commonName VAR_040041 VAR_040041 disease phenotype-associated VAR_040041 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] VAR_040042 commonName VAR_040042 VAR_040042 disease phenotype-associated VAR_040042 phenoCommon Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] VAR_040043 commonName VAR_040043 VAR_040043 disease not phenotype-associated VAR_040044 commonName VAR_040044 VAR_040044 disease not phenotype-associated VAR_040045 commonName VAR_040045 VAR_040045 disease not phenotype-associated VAR_040046 commonName VAR_040046 VAR_040046 disease not phenotype-associated VAR_040047 commonName VAR_040047 VAR_040047 disease not phenotype-associated VAR_040048 commonName VAR_040048 VAR_040048 disease not phenotype-associated VAR_040049 commonName VAR_040049 VAR_040049 disease not phenotype-associated VAR_040050 commonName VAR_040050 VAR_040050 disease not phenotype-associated VAR_040051 commonName VAR_040051 VAR_040051 disease not phenotype-associated VAR_040052 commonName VAR_040052 VAR_040052 disease not phenotype-associated VAR_040053 commonName VAR_040053 VAR_040053 disease not phenotype-associated VAR_040054 commonName VAR_040054 VAR_040054 disease not phenotype-associated VAR_040055 commonName VAR_040055 VAR_040055 disease not phenotype-associated VAR_040056 commonName VAR_040056 VAR_040056 disease not phenotype-associated VAR_040057 commonName VAR_040057 VAR_040057 disease not phenotype-associated VAR_040058 commonName VAR_040058 VAR_040058 disease not phenotype-associated VAR_040059 commonName VAR_040059 VAR_040059 disease not phenotype-associated VAR_040060 commonName VAR_040060 VAR_040060 disease not phenotype-associated VAR_040061 commonName VAR_040061 VAR_040061 disease not phenotype-associated VAR_040062 commonName VAR_040062 VAR_040062 disease not phenotype-associated VAR_040063 commonName VAR_040063 VAR_040063 disease not phenotype-associated VAR_040064 commonName VAR_040064 VAR_040064 disease not phenotype-associated VAR_040065 commonName VAR_040065 VAR_040065 disease not phenotype-associated VAR_040066 commonName VAR_040066 VAR_040066 disease not phenotype-associated VAR_040067 commonName VAR_040067 VAR_040067 disease not phenotype-associated VAR_040068 commonName VAR_040068 VAR_040068 disease not phenotype-associated VAR_040069 commonName VAR_040069 VAR_040069 disease not phenotype-associated VAR_040070 commonName VAR_040070 VAR_040070 disease not phenotype-associated VAR_040071 commonName VAR_040071 VAR_040071 disease not phenotype-associated VAR_040072 commonName VAR_040072 VAR_040072 disease not phenotype-associated VAR_040073 commonName VAR_040073 VAR_040073 disease not phenotype-associated VAR_040074 commonName VAR_040074 VAR_040074 disease not phenotype-associated VAR_040075 commonName VAR_040075 VAR_040075 disease not phenotype-associated VAR_040076 commonName VAR_040076 VAR_040076 disease not phenotype-associated VAR_040077 commonName VAR_040077 VAR_040077 disease not phenotype-associated VAR_040348 commonName VAR_040348 VAR_040348 disease not phenotype-associated VAR_040349 commonName VAR_040349 VAR_040349 disease not phenotype-associated VAR_040350 commonName VAR_040350 VAR_040350 disease not phenotype-associated VAR_040351 commonName VAR_040351 VAR_040351 disease not phenotype-associated VAR_040352 commonName VAR_040352 VAR_040352 disease not phenotype-associated VAR_040353 commonName VAR_040353 VAR_040353 disease not phenotype-associated VAR_040354 commonName VAR_040354 VAR_040354 disease not phenotype-associated VAR_040355 comment A gastric adenocarcinoma sample VAR_040355 commonName VAR_040355 VAR_040356 commonName VAR_040356 VAR_040356 disease not phenotype-associated VAR_040357 commonName VAR_040357 VAR_040357 disease not phenotype-associated VAR_040358 comment A glioblastoma multiforme sample VAR_040358 commonName VAR_040358 VAR_040359 commonName VAR_040359 VAR_040359 disease not phenotype-associated VAR_040360 commonName VAR_040360 VAR_040360 disease not phenotype-associated VAR_040361 commonName VAR_040361 VAR_040361 disease not phenotype-associated VAR_040362 comment A breast infiltrating ductal carcinoma sample VAR_040362 commonName VAR_040362 VAR_040363 commonName VAR_040363 VAR_040363 disease not phenotype-associated VAR_040364 commonName VAR_040364 VAR_040364 disease not phenotype-associated VAR_040365 commonName VAR_040365 VAR_040365 disease not phenotype-associated VAR_040366 commonName VAR_040366 VAR_040366 disease not phenotype-associated VAR_040367 commonName VAR_040367 VAR_040367 disease not phenotype-associated VAR_040368 commonName VAR_040368 VAR_040368 disease not phenotype-associated VAR_040369 commonName VAR_040369 VAR_040369 disease not phenotype-associated VAR_040370 commonName VAR_040370 VAR_040370 disease not phenotype-associated VAR_040371 commonName VAR_040371 VAR_040371 disease not phenotype-associated VAR_040372 comment A lung large cell carcinoma sample VAR_040372 commonName VAR_040372 VAR_040373 comment A lung squamous cell carcinoma sample VAR_040373 commonName VAR_040373 VAR_040374 comment A lung neuroendocrine carcinoma sample VAR_040374 commonName VAR_040374 VAR_040375 commonName VAR_040375 VAR_040375 disease not phenotype-associated VAR_040376 comment A colorectal adenocarcinoma sample VAR_040376 commonName VAR_040376 VAR_040377 commonName VAR_040377 VAR_040377 disease not phenotype-associated VAR_040378 commonName VAR_040378 VAR_040378 disease not phenotype-associated VAR_040379 comment A colorectal adenocarcinoma sample VAR_040379 commonName VAR_040379 VAR_040380 commonName VAR_040380 VAR_040380 disease not phenotype-associated VAR_040381 commonName VAR_040381 VAR_040381 disease not phenotype-associated VAR_040382 comment A lung bronchoalveolar carcinoma sample VAR_040382 commonName VAR_040382 VAR_040383 commonName VAR_040383 VAR_040383 disease not phenotype-associated VAR_040384 commonName VAR_040384 VAR_040384 disease not phenotype-associated VAR_040385 comment A lung adenocarcinoma sample VAR_040385 commonName VAR_040385 VAR_040386 comment A lung squamous cell carcinoma sample VAR_040386 commonName VAR_040386 VAR_040387 comment A lung adenocarcinoma sample VAR_040387 commonName VAR_040387 VAR_040388 comment A lung squamous cell carcinoma sample VAR_040388 commonName VAR_040388 VAR_040389 commonName VAR_040389 VAR_040389 disease not phenotype-associated VAR_040390 commonName VAR_040390 VAR_040390 disease not phenotype-associated VAR_040391 commonName VAR_040391 VAR_040391 disease not phenotype-associated VAR_040392 comment A colorectal adenocarcinoma sample VAR_040392 commonName VAR_040392 VAR_040393 comment A colorectal adenocarcinoma sample VAR_040393 commonName VAR_040393 VAR_040394 comment A gastric adenocarcinoma sample VAR_040394 commonName VAR_040394 VAR_040395 comment A lung large cell carcinoma sample VAR_040395 commonName VAR_040395 VAR_040396 comment A metastatic melanoma sample VAR_040396 commonName VAR_040396 VAR_040400 commonName VAR_040400 VAR_040400 disease not phenotype-associated VAR_040401 commonName VAR_040401 VAR_040401 disease not phenotype-associated VAR_040402 commonName VAR_040402 VAR_040402 disease not phenotype-associated VAR_040403 commonName VAR_040403 VAR_040403 disease not phenotype-associated VAR_040404 commonName VAR_040404 VAR_040404 disease not phenotype-associated VAR_040405 commonName VAR_040405 VAR_040405 disease not phenotype-associated VAR_040406 commonName VAR_040406 VAR_040406 disease not phenotype-associated VAR_040407 commonName VAR_040407 VAR_040407 disease not phenotype-associated VAR_040408 commonName VAR_040408 VAR_040408 disease not phenotype-associated VAR_040409 commonName VAR_040409 VAR_040409 disease not phenotype-associated VAR_040410 commonName VAR_040410 VAR_040410 disease not phenotype-associated VAR_040413 commonName VAR_040413 VAR_040413 disease not phenotype-associated VAR_040416 commonName VAR_040416 VAR_040416 disease not phenotype-associated VAR_040417 commonName VAR_040417 VAR_040417 disease not phenotype-associated VAR_040418 commonName VAR_040418 VAR_040418 disease not phenotype-associated VAR_040419 commonName VAR_040419 VAR_040419 disease not phenotype-associated VAR_040420 commonName VAR_040420 VAR_040420 disease not phenotype-associated VAR_040421 commonName VAR_040421 VAR_040421 disease not phenotype-associated VAR_040422 commonName VAR_040422 VAR_040422 disease not phenotype-associated VAR_040423 commonName VAR_040423 VAR_040423 disease not phenotype-associated VAR_040424 commonName VAR_040424 VAR_040424 disease not phenotype-associated VAR_040425 commonName VAR_040425 VAR_040425 disease not phenotype-associated VAR_040426 commonName VAR_040426 VAR_040426 disease not phenotype-associated VAR_040427 commonName VAR_040427 VAR_040427 disease not phenotype-associated VAR_040428 commonName VAR_040428 VAR_040428 disease not phenotype-associated VAR_040429 commonName VAR_040429 VAR_040429 disease not phenotype-associated VAR_040430 commonName VAR_040430 VAR_040430 disease not phenotype-associated VAR_040431 commonName VAR_040431 VAR_040431 disease not phenotype-associated VAR_040432 commonName VAR_040432 VAR_040432 disease not phenotype-associated VAR_040436 commonName VAR_040436 VAR_040436 disease not phenotype-associated VAR_040438 comment A colorectal adenocarcinoma sample VAR_040438 commonName VAR_040438 VAR_040439 comment An ovarian mucinous carcinoma sample VAR_040439 commonName VAR_040439 VAR_040440 comment A lung neuroendocrine carcinoma sample VAR_040440 commonName VAR_040440 VAR_040441 commonName VAR_040441 VAR_040441 disease not phenotype-associated VAR_040442 commonName VAR_040442 VAR_040442 disease not phenotype-associated VAR_040443 commonName VAR_040443 VAR_040443 disease not phenotype-associated VAR_040444 commonName VAR_040444 VAR_040444 disease not phenotype-associated VAR_040445 comment A breast infiltrating ductal carcinoma sample VAR_040445 commonName VAR_040445 VAR_040446 comment A colorectal adenocarcinoma sample VAR_040446 commonName VAR_040446 VAR_040447 comment A lung large cell carcinoma sample VAR_040447 commonName VAR_040447 VAR_040448 comment A lung squamous cell carcinoma sample VAR_040448 commonName VAR_040448 VAR_040449 comment A renal clear cell carcinoma sample VAR_040449 commonName VAR_040449 VAR_040450 comment A colorectal adenocarcinoma sample VAR_040450 commonName VAR_040450 VAR_040451 commonName VAR_040451 VAR_040451 disease not phenotype-associated VAR_040452 comment A lung small cell carcinoma sample VAR_040452 commonName VAR_040452 VAR_040454 commonName VAR_040454 VAR_040454 disease not phenotype-associated VAR_040455 commonName VAR_040455 VAR_040455 disease not phenotype-associated VAR_040456 commonName VAR_040456 VAR_040456 disease not phenotype-associated VAR_040457 comment A metastatic melanoma sample VAR_040457 commonName VAR_040457 VAR_040458 commonName VAR_040458 VAR_040458 disease not phenotype-associated VAR_040459 comment A glioblastoma multiforme sample VAR_040459 commonName VAR_040459 VAR_040460 commonName VAR_040460 VAR_040460 disease not phenotype-associated VAR_040461 commonName VAR_040461 VAR_040461 disease not phenotype-associated VAR_040462 commonName VAR_040462 VAR_040462 disease not phenotype-associated VAR_040463 commonName VAR_040463 VAR_040463 disease not phenotype-associated VAR_040464 commonName VAR_040464 VAR_040464 disease not phenotype-associated VAR_040465 commonName VAR_040465 VAR_040465 disease not phenotype-associated VAR_040466 commonName VAR_040466 VAR_040466 disease not phenotype-associated VAR_040467 commonName VAR_040467 VAR_040467 disease not phenotype-associated VAR_040468 commonName VAR_040468 VAR_040468 disease not phenotype-associated VAR_040469 commonName VAR_040469 VAR_040469 disease not phenotype-associated VAR_040470 commonName VAR_040470 VAR_040470 disease not phenotype-associated VAR_040471 comment A lung adenocarcinoma sample VAR_040471 commonName VAR_040471 VAR_040472 commonName VAR_040472 VAR_040472 disease not phenotype-associated VAR_040473 commonName VAR_040473 VAR_040473 disease not phenotype-associated VAR_040474 commonName VAR_040474 VAR_040474 disease not phenotype-associated VAR_040475 comment A lung adenocarcinoma sample VAR_040475 commonName VAR_040475 VAR_040476 commonName VAR_040476 VAR_040476 disease not phenotype-associated VAR_040477 commonName VAR_040477 VAR_040477 disease not phenotype-associated VAR_040478 commonName VAR_040478 VAR_040478 disease not phenotype-associated VAR_040479 commonName VAR_040479 VAR_040479 disease not phenotype-associated VAR_040480 commonName VAR_040480 VAR_040480 disease not phenotype-associated VAR_040481 commonName VAR_040481 VAR_040481 disease not phenotype-associated VAR_040482 commonName VAR_040482 VAR_040482 disease not phenotype-associated VAR_040483 comment A lung neuroendocrine carcinoma sample VAR_040483 commonName VAR_040483 VAR_040484 commonName VAR_040484 VAR_040484 disease not phenotype-associated VAR_040485 commonName VAR_040485 VAR_040485 disease not phenotype-associated VAR_040486 commonName VAR_040486 VAR_040486 disease not phenotype-associated VAR_040487 commonName VAR_040487 VAR_040487 disease not phenotype-associated VAR_040488 comment A renal clear cell carcinoma sample VAR_040488 commonName VAR_040488 HbVar.681 commonName Hb A2-Fitzroy VAR_040489 commonName VAR_040489 VAR_040489 disease not phenotype-associated VAR_040490 comment A lung adenocarcinoma sample VAR_040490 commonName VAR_040490 VAR_040491 comment A gastric adenocarcinoma sample VAR_040491 commonName VAR_040491 VAR_040492 commonName VAR_040492 VAR_040492 disease not phenotype-associated VAR_040493 comment A glioblastoma multiforme sample VAR_040493 commonName VAR_040493 VAR_040494 comment An ovarian serous carcinoma sample VAR_040494 commonName VAR_040494 VAR_040495 commonName VAR_040495 VAR_040495 disease not phenotype-associated VAR_040496 commonName VAR_040496 VAR_040496 disease not phenotype-associated VAR_040497 commonName VAR_040497 VAR_040497 disease not phenotype-associated VAR_040498 commonName VAR_040498 VAR_040498 disease not phenotype-associated VAR_040499 commonName VAR_040499 VAR_040499 disease not phenotype-associated VAR_040500 commonName VAR_040500 VAR_040500 disease not phenotype-associated VAR_040501 commonName VAR_040501 VAR_040501 disease not phenotype-associated VAR_040502 commonName VAR_040502 VAR_040502 disease not phenotype-associated VAR_040503 commonName VAR_040503 VAR_040503 disease not phenotype-associated VAR_040504 commonName VAR_040504 VAR_040504 disease not phenotype-associated VAR_040505 commonName VAR_040505 VAR_040505 disease not phenotype-associated VAR_040506 commonName VAR_040506 VAR_040506 disease not phenotype-associated VAR_040507 commonName VAR_040507 VAR_040507 disease not phenotype-associated VAR_040516 commonName VAR_040516 VAR_040516 disease not phenotype-associated VAR_040517 commonName VAR_040517 VAR_040517 disease not phenotype-associated VAR_040518 commonName VAR_040518 VAR_040518 disease not phenotype-associated VAR_040519 commonName VAR_040519 VAR_040519 disease not phenotype-associated VAR_040520 commonName VAR_040520 VAR_040520 disease not phenotype-associated VAR_040521 commonName VAR_040521 VAR_040521 disease not phenotype-associated VAR_040522 comment A lung neuroendocrine carcinoma sample VAR_040522 commonName VAR_040522 VAR_040523 commonName VAR_040523 VAR_040523 disease not phenotype-associated VAR_040524 comment A gastric adenocarcinoma sample VAR_040524 commonName VAR_040524 VAR_040525 commonName VAR_040525 VAR_040525 disease not phenotype-associated VAR_040526 comment A breast infiltrating ductal carcinoma sample VAR_040526 commonName VAR_040526 VAR_040527 commonName VAR_040527 VAR_040527 disease not phenotype-associated VAR_040528 commonName VAR_040528 VAR_040528 disease not phenotype-associated VAR_040529 commonName VAR_040529 VAR_040529 disease not phenotype-associated VAR_040530 commonName VAR_040530 VAR_040530 disease not phenotype-associated VAR_040531 commonName VAR_040531 VAR_040531 disease not phenotype-associated VAR_040532 commonName VAR_040532 VAR_040532 disease not phenotype-associated VAR_040533 commonName VAR_040533 VAR_040533 disease not phenotype-associated VAR_040534 comment A metastatic melanoma sample VAR_040534 commonName VAR_040534 VAR_040535 commonName VAR_040535 VAR_040535 disease not phenotype-associated VAR_040536 commonName VAR_040536 VAR_040536 disease not phenotype-associated VAR_040537 commonName VAR_040537 VAR_040537 disease not phenotype-associated VAR_040538 commonName VAR_040538 VAR_040538 disease not phenotype-associated VAR_040539 commonName VAR_040539 VAR_040539 disease not phenotype-associated VAR_040540 commonName VAR_040540 VAR_040540 disease not phenotype-associated VAR_040541 commonName VAR_040541 VAR_040541 disease not phenotype-associated VAR_040542 commonName VAR_040542 VAR_040542 disease not phenotype-associated VAR_040543 commonName VAR_040543 VAR_040543 disease not phenotype-associated VAR_040544 commonName VAR_040544 VAR_040544 disease not phenotype-associated VAR_040545 commonName VAR_040545 VAR_040545 disease not phenotype-associated VAR_040546 commonName VAR_040546 VAR_040546 disease not phenotype-associated VAR_040547 commonName VAR_040547 VAR_040547 disease not phenotype-associated VAR_040548 commonName VAR_040548 VAR_040548 disease not phenotype-associated VAR_040549 commonName VAR_040549 VAR_040549 disease not phenotype-associated VAR_040550 commonName VAR_040550 VAR_040550 disease not phenotype-associated VAR_040551 commonName VAR_040551 VAR_040551 disease not phenotype-associated VAR_040552 commonName VAR_040552 VAR_040552 disease not phenotype-associated VAR_040553 commonName VAR_040553 VAR_040553 disease not phenotype-associated VAR_040554 commonName VAR_040554 VAR_040554 disease not phenotype-associated VAR_040555 commonName VAR_040555 VAR_040555 disease not phenotype-associated VAR_040556 commonName VAR_040556 VAR_040556 disease not phenotype-associated VAR_040557 commonName VAR_040557 VAR_040557 disease not phenotype-associated VAR_040558 commonName VAR_040558 VAR_040558 disease not phenotype-associated VAR_040559 commonName VAR_040559 VAR_040559 disease not phenotype-associated VAR_040560 commonName VAR_040560 VAR_040560 disease not phenotype-associated VAR_040561 commonName VAR_040561 VAR_040561 disease not phenotype-associated VAR_040562 commonName VAR_040562 VAR_040562 disease not phenotype-associated VAR_040563 commonName VAR_040563 VAR_040563 disease not phenotype-associated VAR_040564 commonName VAR_040564 VAR_040564 disease not phenotype-associated VAR_040565 commonName VAR_040565 VAR_040565 disease not phenotype-associated VAR_040566 commonName VAR_040566 VAR_040566 disease not phenotype-associated VAR_040567 commonName VAR_040567 VAR_040567 disease not phenotype-associated VAR_040568 commonName VAR_040568 VAR_040568 disease not phenotype-associated VAR_040569 commonName VAR_040569 VAR_040569 disease not phenotype-associated VAR_040570 commonName VAR_040570 VAR_040570 disease not phenotype-associated VAR_040571 commonName VAR_040571 VAR_040571 disease not phenotype-associated VAR_040573 commonName VAR_040573 VAR_040573 disease not phenotype-associated VAR_040574 comment A glioblastoma multiforme sample VAR_040574 commonName VAR_040574 VAR_040575 comment A breast pleomorphic lobular carcinoma sample VAR_040575 commonName VAR_040575 VAR_040576 commonName VAR_040576 VAR_040576 disease not phenotype-associated VAR_040577 commonName VAR_040577 VAR_040577 disease not phenotype-associated VAR_040578 commonName VAR_040578 VAR_040578 disease not phenotype-associated VAR_040579 commonName VAR_040579 VAR_040579 disease not phenotype-associated VAR_040580 comment A lung adenocarcinoma sample VAR_040580 commonName VAR_040580 VAR_040581 commonName VAR_040581 VAR_040581 disease not phenotype-associated VAR_040582 commonName VAR_040582 VAR_040582 disease not phenotype-associated VAR_040583 commonName VAR_040583 VAR_040583 disease not phenotype-associated VAR_040584 commonName VAR_040584 VAR_040584 disease not phenotype-associated VAR_040585 commonName VAR_040585 VAR_040585 disease not phenotype-associated VAR_040586 commonName VAR_040586 VAR_040586 disease not phenotype-associated VAR_040587 commonName VAR_040587 VAR_040587 disease not phenotype-associated VAR_040588 commonName VAR_040588 VAR_040588 disease not phenotype-associated VAR_040591 commonName VAR_040591 VAR_040591 disease not phenotype-associated VAR_040592 commonName VAR_040592 VAR_040592 disease not phenotype-associated VAR_040593 commonName VAR_040593 VAR_040593 disease not phenotype-associated VAR_040594 commonName VAR_040594 VAR_040594 disease not phenotype-associated VAR_040595 commonName VAR_040595 VAR_040595 disease not phenotype-associated VAR_040596 comment A metastatic melanoma sample VAR_040596 commonName VAR_040596 VAR_040597 commonName VAR_040597 VAR_040597 disease not phenotype-associated VAR_040599 commonName VAR_040599 VAR_040599 disease not phenotype-associated VAR_040600 commonName VAR_040600 VAR_040600 disease not phenotype-associated VAR_040601 comment A breast infiltrating ductal carcinoma sample VAR_040601 commonName VAR_040601 VAR_040602 commonName VAR_040602 VAR_040602 disease not phenotype-associated VAR_040604 comment A lung adenocarcinoma sample VAR_040604 commonName VAR_040604 VAR_040605 commonName VAR_040605 VAR_040605 disease not phenotype-associated VAR_040608 commonName VAR_040608 VAR_040608 disease not phenotype-associated VAR_040609 comment A colorectal adenocarcinoma sample VAR_040609 commonName VAR_040609 VAR_040610 commonName VAR_040610 VAR_040610 disease not phenotype-associated VAR_040611 comment A lung neuroendocrine carcinoma sample VAR_040611 commonName VAR_040611 VAR_040612 comment A colorectal adenocarcinoma sample VAR_040612 commonName VAR_040612 VAR_040613 commonName VAR_040613 VAR_040613 disease not phenotype-associated VAR_040614 commonName VAR_040614 VAR_040614 disease not phenotype-associated VAR_040615 commonName VAR_040615 VAR_040615 disease not phenotype-associated VAR_040616 commonName VAR_040616 VAR_040616 disease not phenotype-associated VAR_040617 commonName VAR_040617 VAR_040617 disease not phenotype-associated VAR_040618 comment A lung adenocarcinoma sample VAR_040618 commonName VAR_040618 VAR_040619 commonName VAR_040619 VAR_040619 disease not phenotype-associated VAR_040620 commonName VAR_040620 VAR_040620 disease not phenotype-associated VAR_040621 commonName VAR_040621 VAR_040621 disease not phenotype-associated VAR_040622 commonName VAR_040622 VAR_040622 disease not phenotype-associated VAR_040623 comment A lung adenocarcinoma sample VAR_040623 commonName VAR_040623 VAR_040624 commonName VAR_040624 VAR_040624 disease not phenotype-associated VAR_040625 commonName VAR_040625 VAR_040625 disease not phenotype-associated VAR_040626 commonName VAR_040626 VAR_040626 disease not phenotype-associated VAR_040627 comment A metastatic melanoma sample VAR_040627 commonName VAR_040627 VAR_040629 comment A gastric adenocarcinoma sample VAR_040629 commonName VAR_040629 VAR_040630 comment A glioblastoma multiforme sample VAR_040630 commonName VAR_040630 VAR_040632 comment A breast infiltrating ductal carcinoma sample VAR_040632 commonName VAR_040632 VAR_040634 commonName VAR_040634 VAR_040634 disease not phenotype-associated VAR_040635 commonName VAR_040635 VAR_040635 disease not phenotype-associated VAR_040636 commonName VAR_040636 VAR_040636 disease not phenotype-associated VAR_040637 comment A lung large cell carcinoma sample VAR_040637 commonName VAR_040637 VAR_040638 comment A lung adenocarcinoma sample VAR_040638 commonName VAR_040638 VAR_040639 commonName VAR_040639 VAR_040639 disease not phenotype-associated VAR_040640 commonName VAR_040640 VAR_040640 disease not phenotype-associated VAR_040641 commonName VAR_040641 VAR_040641 disease not phenotype-associated VAR_040642 commonName VAR_040642 VAR_040642 disease not phenotype-associated VAR_040643 commonName VAR_040643 VAR_040643 disease not phenotype-associated VAR_040644 commonName VAR_040644 VAR_040644 disease not phenotype-associated VAR_040645 commonName VAR_040645 VAR_040645 disease not phenotype-associated VAR_040646 comment An ovarian mucinous carcinoma sample VAR_040646 commonName VAR_040646 VAR_040647 commonName VAR_040647 VAR_040647 disease not phenotype-associated VAR_040648 commonName VAR_040648 VAR_040648 disease not phenotype-associated VAR_040649 commonName VAR_040649 VAR_040649 disease not phenotype-associated VAR_040650 commonName VAR_040650 VAR_040650 disease not phenotype-associated VAR_040651 commonName VAR_040651 VAR_040651 disease not phenotype-associated VAR_040652 comment A lung neuroendocrine carcinoma sample VAR_040652 commonName VAR_040652 VAR_040653 commonName VAR_040653 VAR_040653 disease not phenotype-associated VAR_040654 comment An ovarian mucinous carcinoma sample VAR_040654 commonName VAR_040654 VAR_040655 commonName VAR_040655 VAR_040655 disease not phenotype-associated VAR_040659 comment A lung adenocarcinoma sample VAR_040659 commonName VAR_040659 VAR_040660 commonName VAR_040660 VAR_040660 disease not phenotype-associated VAR_040661 commonName VAR_040661 VAR_040661 disease not phenotype-associated VAR_040662 commonName VAR_040662 VAR_040662 disease not phenotype-associated VAR_040663 commonName VAR_040663 VAR_040663 disease not phenotype-associated VAR_040664 commonName VAR_040664 VAR_040664 disease not phenotype-associated VAR_040665 commonName VAR_040665 VAR_040665 disease not phenotype-associated VAR_040666 comment A lung adenocarcinoma sample VAR_040666 commonName VAR_040666 VAR_040667 comment A lung large cell carcinoma sample VAR_040667 commonName VAR_040667 VAR_040669 comment A lung adenocarcinoma sample VAR_040669 commonName VAR_040669 VAR_040670 commonName VAR_040670 VAR_040670 disease not phenotype-associated VAR_040671 commonName VAR_040671 VAR_040671 disease not phenotype-associated VAR_040672 commonName VAR_040672 VAR_040672 disease not phenotype-associated VAR_040673 commonName VAR_040673 VAR_040673 disease not phenotype-associated VAR_040674 commonName VAR_040674 VAR_040674 disease not phenotype-associated VAR_040675 commonName VAR_040675 VAR_040675 disease not phenotype-associated VAR_040676 commonName VAR_040676 VAR_040676 disease not phenotype-associated VAR_040677 commonName VAR_040677 VAR_040677 disease not phenotype-associated VAR_040680 commonName VAR_040680 VAR_040680 disease not phenotype-associated VAR_040681 commonName VAR_040681 VAR_040681 disease not phenotype-associated VAR_040682 commonName VAR_040682 VAR_040682 disease not phenotype-associated VAR_040683 comment A lung large cell carcinoma sample VAR_040683 commonName VAR_040683 VAR_040684 commonName VAR_040684 VAR_040684 disease not phenotype-associated VAR_040685 commonName VAR_040685 VAR_040685 disease not phenotype-associated VAR_040686 commonName VAR_040686 VAR_040686 disease not phenotype-associated VAR_040687 commonName VAR_040687 VAR_040687 disease not phenotype-associated VAR_040688 commonName VAR_040688 VAR_040688 disease not phenotype-associated VAR_040689 commonName VAR_040689 VAR_040689 disease not phenotype-associated VAR_040690 commonName VAR_040690 VAR_040690 disease not phenotype-associated VAR_040693 commonName VAR_040693 VAR_040693 disease not phenotype-associated VAR_040694 commonName VAR_040694 VAR_040694 disease not phenotype-associated VAR_040695 commonName VAR_040695 VAR_040695 disease not phenotype-associated VAR_040696 commonName VAR_040696 VAR_040696 disease not phenotype-associated VAR_040697 commonName VAR_040697 VAR_040697 disease not phenotype-associated VAR_040698 comment A metastatic melanoma sample VAR_040698 commonName VAR_040698 VAR_040699 comment A gastric adenocarcinoma sample VAR_040699 commonName VAR_040699 VAR_040700 commonName VAR_040700 VAR_040700 disease not phenotype-associated VAR_040701 commonName VAR_040701 VAR_040701 disease not phenotype-associated VAR_040702 comment A metastatic melanoma sample VAR_040702 commonName VAR_040702 VAR_040703 commonName VAR_040703 VAR_040703 disease not phenotype-associated VAR_040704 commonName VAR_040704 VAR_040704 disease not phenotype-associated VAR_040705 comment A breast pleomorphic lobular carcinoma sample VAR_040705 commonName VAR_040705 VAR_040706 commonName VAR_040706 VAR_040706 disease not phenotype-associated VAR_040707 commonName VAR_040707 VAR_040707 disease not phenotype-associated VAR_040708 commonName VAR_040708 VAR_040708 disease not phenotype-associated VAR_040711 commonName VAR_040711 VAR_040711 disease not phenotype-associated VAR_040712 comment A lung neuroendocrine carcinoma sample VAR_040712 commonName VAR_040712 VAR_040716 commonName VAR_040716 VAR_040716 disease not phenotype-associated VAR_040717 commonName VAR_040717 VAR_040717 disease not phenotype-associated VAR_040718 commonName VAR_040718 VAR_040718 disease not phenotype-associated VAR_040719 comment A lung squamous cell carcinoma sample VAR_040719 commonName VAR_040719 VAR_040720 commonName VAR_040720 VAR_040720 disease not phenotype-associated VAR_040721 commonName VAR_040721 VAR_040721 disease not phenotype-associated VAR_040722 comment A lung adenocarcinoma sample VAR_040722 commonName VAR_040722 VAR_040723 comment A metastatic melanoma sample VAR_040723 commonName VAR_040723 VAR_040729 commonName VAR_040729 VAR_040729 disease not phenotype-associated VAR_040730 commonName VAR_040730 VAR_040730 disease not phenotype-associated VAR_040731 commonName VAR_040731 VAR_040731 disease not phenotype-associated VAR_040732 commonName VAR_040732 VAR_040732 disease not phenotype-associated VAR_040733 commonName VAR_040733 VAR_040733 disease not phenotype-associated VAR_040734 commonName VAR_040734 VAR_040734 disease not phenotype-associated VAR_040735 commonName VAR_040735 VAR_040735 disease not phenotype-associated VAR_040736 commonName VAR_040736 VAR_040736 disease not phenotype-associated VAR_040737 commonName VAR_040737 VAR_040737 disease not phenotype-associated VAR_040738 commonName VAR_040738 VAR_040738 disease not phenotype-associated VAR_040739 commonName VAR_040739 VAR_040739 disease not phenotype-associated VAR_040740 commonName VAR_040740 VAR_040740 disease not phenotype-associated VAR_040741 commonName VAR_040741 VAR_040741 disease not phenotype-associated VAR_040742 comment A metastatic melanoma sample VAR_040742 commonName VAR_040742 VAR_040743 commonName VAR_040743 VAR_040743 disease not phenotype-associated VAR_040744 commonName VAR_040744 VAR_040744 disease not phenotype-associated VAR_040746 commonName VAR_040746 VAR_040746 disease not phenotype-associated VAR_040747 commonName VAR_040747 VAR_040747 disease not phenotype-associated VAR_040748 commonName VAR_040748 VAR_040748 disease not phenotype-associated VAR_040749 commonName VAR_040749 VAR_040749 disease not phenotype-associated VAR_040750 commonName VAR_040750 VAR_040750 disease not phenotype-associated VAR_040751 commonName VAR_040751 VAR_040751 disease not phenotype-associated VAR_040752 commonName VAR_040752 VAR_040752 disease not phenotype-associated VAR_040753 commonName VAR_040753 VAR_040753 disease not phenotype-associated VAR_040754 commonName VAR_040754 VAR_040754 disease not phenotype-associated VAR_040755 comment A glioblastoma multiforme sample VAR_040755 commonName VAR_040755 VAR_040756 commonName VAR_040756 VAR_040757 commonName VAR_040757 VAR_040757 disease not phenotype-associated VAR_040758 commonName VAR_040758 VAR_040758 disease not phenotype-associated VAR_040759 commonName VAR_040759 VAR_040759 disease not phenotype-associated VAR_040760 comment A gastric adenocarcinoma sample VAR_040760 commonName VAR_040760 VAR_040761 comment An ovarian serous carcinoma sample VAR_040761 commonName VAR_040761 VAR_040762 commonName VAR_040762 VAR_040762 disease not phenotype-associated VAR_040763 commonName VAR_040763 VAR_040763 disease not phenotype-associated VAR_040764 commonName VAR_040764 VAR_040764 disease not phenotype-associated VAR_040765 commonName VAR_040765 VAR_040765 disease not phenotype-associated VAR_040766 commonName VAR_040766 VAR_040766 disease not phenotype-associated VAR_040767 comment A colorectal adenocarcinoma sample VAR_040767 commonName VAR_040767 VAR_040768 comment A metastatic melanoma sample VAR_040768 commonName VAR_040768 VAR_040769 comment An ovarian serous carcinoma sample VAR_040769 commonName VAR_040769 VAR_040770 commonName VAR_040770 VAR_040770 disease not phenotype-associated VAR_040771 commonName VAR_040771 VAR_040771 disease not phenotype-associated VAR_040772 comment An ovarian mucinous carcinoma sample VAR_040772 commonName VAR_040772 VAR_040773 commonName VAR_040773 VAR_040773 disease not phenotype-associated VAR_040774 comment A breast mucinous carcinoma sample VAR_040774 commonName VAR_040774 VAR_040775 commonName VAR_040775 VAR_040775 disease not phenotype-associated VAR_040776 commonName VAR_040776 VAR_040776 disease not phenotype-associated VAR_040777 commonName VAR_040777 VAR_040777 disease not phenotype-associated VAR_040778 commonName VAR_040778 VAR_040778 disease not phenotype-associated VAR_040779 commonName VAR_040779 VAR_040779 disease not phenotype-associated VAR_040780 commonName VAR_040780 VAR_040780 disease not phenotype-associated VAR_040781 commonName VAR_040781 VAR_040781 disease not phenotype-associated VAR_040782 commonName VAR_040782 VAR_040782 disease not phenotype-associated VAR_040783 commonName VAR_040783 VAR_040783 disease not phenotype-associated VAR_040784 commonName VAR_040784 VAR_040784 disease not phenotype-associated VAR_040785 commonName VAR_040785 VAR_040785 disease not phenotype-associated VAR_040786 commonName VAR_040786 VAR_040786 disease not phenotype-associated VAR_040792 commonName VAR_040792 VAR_040792 disease not phenotype-associated VAR_040793 commonName VAR_040793 VAR_040793 disease not phenotype-associated VAR_040794 commonName VAR_040794 VAR_040794 disease not phenotype-associated VAR_040795 commonName VAR_040795 VAR_040795 disease not phenotype-associated VAR_040796 commonName VAR_040796 VAR_040796 disease not phenotype-associated VAR_040797 commonName VAR_040797 VAR_040797 disease not phenotype-associated VAR_040799 commonName VAR_040799 VAR_040799 disease not phenotype-associated VAR_040800 commonName VAR_040800 VAR_040800 disease not phenotype-associated VAR_040801 commonName VAR_040801 VAR_040801 disease not phenotype-associated VAR_040802 commonName VAR_040802 VAR_040802 disease not phenotype-associated VAR_040803 commonName VAR_040803 VAR_040803 disease not phenotype-associated VAR_040804 commonName VAR_040804 VAR_040804 disease not phenotype-associated VAR_040805 commonName VAR_040805 VAR_040805 disease not phenotype-associated VAR_040806 commonName VAR_040806 VAR_040806 disease not phenotype-associated VAR_040807 commonName VAR_040807 VAR_040808 commonName VAR_040808 VAR_040808 disease not phenotype-associated VAR_040809 commonName VAR_040809 VAR_040809 disease not phenotype-associated VAR_040810 commonName VAR_040810 VAR_040810 disease not phenotype-associated VAR_040811 commonName VAR_040811 VAR_040811 disease not phenotype-associated VAR_040812 commonName VAR_040812 VAR_040812 disease not phenotype-associated VAR_040813 commonName VAR_040813 VAR_040813 disease not phenotype-associated VAR_040814 commonName VAR_040814 VAR_040814 disease not phenotype-associated VAR_040815 comment A lung adenocarcinoma sample VAR_040815 commonName VAR_040815 VAR_040816 commonName VAR_040816 VAR_040816 disease not phenotype-associated VAR_040817 commonName VAR_040817 VAR_040817 disease not phenotype-associated VAR_040818 comment A lung squamous cell carcinoma sample VAR_040818 commonName VAR_040818 VAR_040819 comment A colorectal adenocarcinoma sample VAR_040819 commonName VAR_040819 VAR_040820 comment An ovarian serous carcinoma sample VAR_040820 commonName VAR_040820 VAR_040821 comment A metastatic melanoma sample VAR_040821 commonName VAR_040821 VAR_040822 comment A colorectal adenocarcinoma sample VAR_040822 commonName VAR_040822 VAR_040823 commonName VAR_040823 VAR_040823 disease not phenotype-associated VAR_040824 commonName VAR_040824 VAR_040824 disease not phenotype-associated VAR_040825 commonName VAR_040825 VAR_040825 disease not phenotype-associated VAR_040826 commonName VAR_040826 VAR_040826 disease not phenotype-associated VAR_040827 comment A colorectal adenocarcinoma sample VAR_040827 commonName VAR_040827 VAR_040828 comment A colorectal adenocarcinoma sample VAR_040828 commonName VAR_040828 VAR_040829 commonName VAR_040829 VAR_040829 disease not phenotype-associated VAR_040834 comment A breast infiltrating ductal carcinoma sample VAR_040834 commonName VAR_040834 VAR_040835 commonName VAR_040835 VAR_040835 disease not phenotype-associated VAR_040836 commonName VAR_040836 VAR_040836 disease not phenotype-associated VAR_040837 comment A colorectal adenocarcinoma sample VAR_040837 commonName VAR_040837 VAR_040838 comment A lung large cell carcinoma sample VAR_040838 commonName VAR_040838 VAR_040839 commonName VAR_040839 VAR_040839 disease not phenotype-associated VAR_040840 commonName VAR_040840 VAR_040840 disease not phenotype-associated VAR_040841 comment A glioblastoma multiforme sample VAR_040841 commonName VAR_040841 VAR_040842 commonName VAR_040842 VAR_040842 disease not phenotype-associated VAR_040843 commonName VAR_040843 VAR_040843 disease not phenotype-associated VAR_040844 commonName VAR_040844 VAR_040844 disease not phenotype-associated VAR_040845 comment A gastric adenocarcinoma sample VAR_040845 commonName VAR_040845 VAR_040846 commonName VAR_040846 VAR_040846 disease not phenotype-associated VAR_040847 commonName VAR_040847 VAR_040847 disease not phenotype-associated VAR_040848 commonName VAR_040848 VAR_040848 disease not phenotype-associated VAR_040849 commonName VAR_040849 VAR_040849 disease not phenotype-associated VAR_040850 commonName VAR_040850 VAR_040850 disease not phenotype-associated VAR_040851 commonName VAR_040851 VAR_040851 disease not phenotype-associated VAR_040852 commonName VAR_040852 VAR_040852 disease not phenotype-associated VAR_040853 commonName VAR_040853 VAR_040853 disease not phenotype-associated VAR_040854 commonName VAR_040854 VAR_040854 disease not phenotype-associated VAR_040855 commonName VAR_040855 VAR_040855 disease not phenotype-associated VAR_040856 commonName VAR_040856 VAR_040856 disease not phenotype-associated VAR_040857 commonName VAR_040857 VAR_040857 disease not phenotype-associated VAR_040858 commonName VAR_040858 VAR_040858 disease not phenotype-associated VAR_040859 comment An ovarian mucinous carcinoma sample VAR_040859 commonName VAR_040859 VAR_040860 comment A lung neuroendocrine carcinoma sample VAR_040860 commonName VAR_040860 VAR_040861 commonName VAR_040861 VAR_040861 disease not phenotype-associated VAR_040862 commonName VAR_040862 VAR_040862 disease not phenotype-associated VAR_040863 commonName VAR_040863 VAR_040863 disease not phenotype-associated VAR_040864 comment A breast infiltrating ductal carcinoma sample VAR_040864 commonName VAR_040864 VAR_040865 commonName VAR_040865 VAR_040865 disease not phenotype-associated VAR_040866 comment A breast infiltrating ductal carcinoma sample VAR_040866 commonName VAR_040866 VAR_040867 commonName VAR_040867 VAR_040867 disease not phenotype-associated VAR_040868 comment A lung squamous cell carcinoma sample VAR_040868 commonName VAR_040868 VAR_040869 commonName VAR_040869 VAR_040869 disease not phenotype-associated VAR_040870 commonName VAR_040870 VAR_040870 disease not phenotype-associated VAR_040871 commonName VAR_040871 VAR_040871 disease not phenotype-associated VAR_040872 commonName VAR_040872 VAR_040872 disease not phenotype-associated VAR_040873 commonName VAR_040873 VAR_040873 disease not phenotype-associated VAR_040874 commonName VAR_040874 VAR_040874 disease not phenotype-associated VAR_040875 comment An ovarian mucinous carcinoma sample VAR_040875 commonName VAR_040875 VAR_040876 commonName VAR_040876 VAR_040876 disease not phenotype-associated VAR_040877 comment An ovarian serous carcinoma sample VAR_040877 commonName VAR_040877 VAR_040878 commonName VAR_040878 VAR_040878 disease not phenotype-associated VAR_040879 commonName VAR_040879 VAR_040879 disease not phenotype-associated VAR_040886 commonName VAR_040886 VAR_040886 disease not phenotype-associated VAR_040887 commonName VAR_040887 VAR_040887 disease not phenotype-associated VAR_040888 commonName VAR_040888 VAR_040888 disease not phenotype-associated VAR_040889 commonName VAR_040889 VAR_040889 disease not phenotype-associated VAR_040890 commonName VAR_040890 VAR_040890 disease not phenotype-associated VAR_040891 commonName VAR_040891 VAR_040891 disease not phenotype-associated VAR_040892 commonName VAR_040892 VAR_040892 disease not phenotype-associated VAR_040893 commonName VAR_040893 VAR_040893 disease not phenotype-associated VAR_040894 commonName VAR_040894 VAR_040894 disease not phenotype-associated VAR_040895 commonName VAR_040895 VAR_040895 disease not phenotype-associated VAR_040896 commonName VAR_040896 VAR_040896 disease not phenotype-associated VAR_040897 commonName VAR_040897 VAR_040897 disease not phenotype-associated VAR_040898 commonName VAR_040898 VAR_040898 disease not phenotype-associated VAR_040899 commonName VAR_040899 VAR_040899 disease not phenotype-associated VAR_040900 commonName VAR_040900 VAR_040900 disease not phenotype-associated VAR_040901 comment A lung large cell carcinoma sample VAR_040901 commonName VAR_040901 VAR_040902 commonName VAR_040902 VAR_040902 disease not phenotype-associated VAR_040903 comment A lung adenocarcinoma sample VAR_040903 commonName VAR_040903 VAR_040904 commonName VAR_040904 VAR_040904 disease not phenotype-associated VAR_040905 commonName VAR_040905 VAR_040905 disease not phenotype-associated VAR_040906 commonName VAR_040906 VAR_040906 disease not phenotype-associated VAR_040908 commonName VAR_040908 VAR_040908 disease not phenotype-associated VAR_040909 commonName VAR_040909 VAR_040909 disease not phenotype-associated VAR_040910 commonName VAR_040910 VAR_040910 disease not phenotype-associated VAR_040911 commonName VAR_040911 VAR_040911 disease not phenotype-associated VAR_040912 commonName VAR_040912 VAR_040912 disease not phenotype-associated VAR_040913 commonName VAR_040913 VAR_040913 disease not phenotype-associated VAR_040914 commonName VAR_040914 VAR_040914 disease not phenotype-associated VAR_040915 commonName VAR_040915 VAR_040915 disease not phenotype-associated VAR_040916 commonName VAR_040916 VAR_040916 disease not phenotype-associated VAR_040917 commonName VAR_040917 VAR_040917 disease not phenotype-associated VAR_040918 commonName VAR_040918 VAR_040918 disease not phenotype-associated VAR_040919 commonName VAR_040919 VAR_040919 disease not phenotype-associated VAR_040920 commonName VAR_040920 VAR_040920 disease not phenotype-associated VAR_040921 comment A colorectal adenocarcinoma sample VAR_040921 commonName VAR_040921 VAR_040922 commonName VAR_040922 VAR_040922 disease not phenotype-associated VAR_040923 commonName VAR_040923 VAR_040923 disease not phenotype-associated VAR_040924 commonName VAR_040924 VAR_040924 disease not phenotype-associated VAR_040925 comment An ovarian serous carcinoma sample VAR_040925 commonName VAR_040925 VAR_040926 commonName VAR_040926 VAR_040926 disease not phenotype-associated VAR_040927 comment A lung neuroendocrine carcinoma sample VAR_040927 commonName VAR_040927 VAR_040935 comment A colorectal adenocarcinoma sample VAR_040935 commonName VAR_040935 VAR_040936 commonName VAR_040936 VAR_040936 disease not phenotype-associated VAR_040937 commonName VAR_040937 VAR_040937 disease not phenotype-associated VAR_040938 commonName VAR_040938 VAR_040938 disease not phenotype-associated VAR_040939 commonName VAR_040939 VAR_040939 disease not phenotype-associated VAR_040945 commonName VAR_040945 VAR_040945 disease not phenotype-associated VAR_040946 commonName VAR_040946 VAR_040946 disease not phenotype-associated VAR_040947 commonName VAR_040947 VAR_040947 disease not phenotype-associated VAR_040948 commonName VAR_040948 VAR_040948 disease not phenotype-associated VAR_040949 comment A lung neuroendocrine carcinoma sample VAR_040949 commonName VAR_040949 VAR_040950 comment A lung large cell carcinoma sample VAR_040950 commonName VAR_040950 VAR_040951 commonName VAR_040951 VAR_040951 disease not phenotype-associated VAR_040952 comment A breast infiltrating ductal carcinoma sample VAR_040952 commonName VAR_040952 VAR_040953 commonName VAR_040953 VAR_040953 disease not phenotype-associated VAR_040954 commonName VAR_040954 VAR_040954 disease not phenotype-associated VAR_040955 commonName VAR_040955 VAR_040955 disease not phenotype-associated VAR_040956 comment A colorectal adenocarcinoma sample VAR_040956 commonName VAR_040956 VAR_040957 commonName VAR_040957 VAR_040957 disease not phenotype-associated VAR_040958 commonName VAR_040958 VAR_040958 disease not phenotype-associated VAR_040959 commonName VAR_040959 VAR_040959 disease not phenotype-associated VAR_040960 commonName VAR_040960 VAR_040960 disease not phenotype-associated VAR_040961 commonName VAR_040961 VAR_040961 disease not phenotype-associated VAR_040962 commonName VAR_040962 VAR_040962 disease not phenotype-associated VAR_040963 commonName VAR_040963 VAR_040963 disease not phenotype-associated VAR_040964 commonName VAR_040964 VAR_040964 disease not phenotype-associated VAR_040965 commonName VAR_040965 VAR_040965 disease not phenotype-associated VAR_040966 comment An ovarian Endometrioid carcinoma sample VAR_040966 commonName VAR_040966 VAR_040967 commonName VAR_040967 VAR_040967 disease not phenotype-associated VAR_040968 comment A breast pleomorphic lobular carcinoma sample VAR_040968 commonName VAR_040968 VAR_040969 comment A metastatic melanoma sample VAR_040969 commonName VAR_040969 VAR_040970 commonName VAR_040970 VAR_040970 disease not phenotype-associated VAR_040971 commonName VAR_040971 VAR_040971 disease not phenotype-associated VAR_040972 commonName VAR_040972 VAR_040972 disease not phenotype-associated VAR_040973 commonName VAR_040973 VAR_040973 disease not phenotype-associated VAR_040974 commonName VAR_040974 VAR_040974 disease not phenotype-associated VAR_040975 commonName VAR_040975 VAR_040975 disease not phenotype-associated VAR_040976 commonName VAR_040976 VAR_040976 disease not phenotype-associated VAR_040977 comment A lung small cell carcinoma sample VAR_040977 commonName VAR_040977 VAR_040978 commonName VAR_040978 VAR_040978 disease not phenotype-associated VAR_040979 commonName VAR_040979 VAR_040979 disease not phenotype-associated VAR_040980 comment A colorectal adenocarcinoma sample VAR_040980 commonName VAR_040980 VAR_040981 commonName VAR_040981 VAR_040981 disease not phenotype-associated VAR_040982 comment A lung adenocarcinoma sample VAR_040982 commonName VAR_040982 VAR_040983 commonName VAR_040983 VAR_040983 disease not phenotype-associated VAR_040984 comment A metastatic melanoma sample VAR_040984 commonName VAR_040984 VAR_040986 comment A metastatic melanoma sample VAR_040986 commonName VAR_040986 VAR_040987 commonName VAR_040987 VAR_040987 disease not phenotype-associated VAR_040988 commonName VAR_040988 VAR_040988 disease not phenotype-associated VAR_040989 commonName VAR_040989 VAR_040989 disease not phenotype-associated VAR_040990 commonName VAR_040990 VAR_040990 disease not phenotype-associated VAR_040991 commonName VAR_040991 VAR_040991 disease not phenotype-associated VAR_040992 commonName VAR_040992 VAR_040992 disease not phenotype-associated VAR_040994 comment A colorectal adenocarcinoma sample VAR_040994 commonName VAR_040994 VAR_040996 commonName VAR_040996 VAR_040996 disease not phenotype-associated VAR_040997 commonName VAR_040997 VAR_040997 disease not phenotype-associated VAR_040998 commonName VAR_040998 VAR_040998 disease not phenotype-associated VAR_040999 commonName VAR_040999 VAR_040999 disease not phenotype-associated VAR_041000 commonName VAR_041000 VAR_041000 disease not phenotype-associated VAR_041001 commonName VAR_041001 VAR_041001 disease not phenotype-associated VAR_041002 commonName VAR_041002 VAR_041002 disease not phenotype-associated VAR_041003 commonName VAR_041003 VAR_041003 disease not phenotype-associated VAR_041004 comment A colorectal adenocarcinoma sample VAR_041004 commonName VAR_041004 VAR_041005 commonName VAR_041005 VAR_041005 disease not phenotype-associated VAR_041006 commonName VAR_041006 VAR_041006 disease not phenotype-associated VAR_041007 commonName VAR_041007 VAR_041007 disease not phenotype-associated VAR_041008 commonName VAR_041008 VAR_041008 disease not phenotype-associated VAR_041009 commonName VAR_041009 VAR_041009 disease not phenotype-associated VAR_041010 commonName VAR_041010 VAR_041010 disease not phenotype-associated VAR_041011 commonName VAR_041011 VAR_041011 disease not phenotype-associated VAR_041012 commonName VAR_041012 VAR_041012 disease not phenotype-associated VAR_041013 comment A glioblastoma multiforme sample VAR_041013 commonName VAR_041013 VAR_041014 commonName VAR_041014 VAR_041014 disease not phenotype-associated VAR_041015 commonName VAR_041015 VAR_041015 disease not phenotype-associated VAR_041016 commonName VAR_041016 VAR_041016 disease not phenotype-associated VAR_041017 commonName VAR_041017 VAR_041017 disease not phenotype-associated VAR_041018 comment A lung squamous cell carcinoma sample VAR_041018 commonName VAR_041018 VAR_041019 commonName VAR_041019 VAR_041019 disease not phenotype-associated VAR_041020 commonName VAR_041020 VAR_041020 disease not phenotype-associated VAR_041021 commonName VAR_041021 VAR_041021 disease not phenotype-associated VAR_041022 commonName VAR_041022 VAR_041022 disease not phenotype-associated VAR_041023 comment An ovarian Endometrioid carcinoma sample VAR_041023 commonName VAR_041023 VAR_041024 comment A lung adenocarcinoma sample VAR_041024 commonName VAR_041024 VAR_041025 commonName VAR_041025 VAR_041025 disease not phenotype-associated VAR_041026 commonName VAR_041026 VAR_041026 disease not phenotype-associated VAR_041027 commonName VAR_041027 VAR_041027 disease not phenotype-associated VAR_041028 commonName VAR_041028 VAR_041028 disease not phenotype-associated VAR_041029 commonName VAR_041029 VAR_041029 disease not phenotype-associated VAR_041030 commonName VAR_041030 VAR_041030 disease not phenotype-associated VAR_041031 commonName VAR_041031 VAR_041031 disease not phenotype-associated VAR_041032 commonName VAR_041032 VAR_041032 disease not phenotype-associated VAR_041033 commonName VAR_041033 VAR_041033 disease not phenotype-associated VAR_041034 commonName VAR_041034 VAR_041034 disease not phenotype-associated VAR_041035 commonName VAR_041035 VAR_041035 disease not phenotype-associated VAR_041036 commonName VAR_041036 VAR_041036 disease not phenotype-associated VAR_041037 comment An ovarian serous carcinoma sample VAR_041037 commonName VAR_041037 VAR_041038 comment A lung adenocarcinoma sample VAR_041038 commonName VAR_041038 VAR_041039 comment A colorectal adenocarcinoma sample VAR_041039 commonName VAR_041039 VAR_041040 comment A colorectal adenocarcinoma sample VAR_041040 commonName VAR_041040 VAR_041041 comment A colorectal adenocarcinoma sample VAR_041041 commonName VAR_041041 VAR_041042 commonName VAR_041042 VAR_041042 disease not phenotype-associated VAR_041043 commonName VAR_041043 VAR_041043 disease not phenotype-associated VAR_041044 commonName VAR_041044 VAR_041044 disease not phenotype-associated VAR_041045 commonName VAR_041045 VAR_041045 disease not phenotype-associated VAR_041046 commonName VAR_041046 VAR_041046 disease not phenotype-associated VAR_041047 commonName VAR_041047 VAR_041047 disease not phenotype-associated VAR_041048 commonName VAR_041048 VAR_041048 disease not phenotype-associated VAR_041055 commonName VAR_041055 VAR_041055 disease not phenotype-associated VAR_041056 commonName VAR_041056 VAR_041056 disease not phenotype-associated VAR_041057 commonName VAR_041057 VAR_041057 disease not phenotype-associated VAR_041058 comment A lung neuroendocrine carcinoma sample VAR_041058 commonName VAR_041058 VAR_041059 commonName VAR_041059 VAR_041059 disease not phenotype-associated VAR_041060 commonName VAR_041060 VAR_041060 disease not phenotype-associated VAR_041061 commonName VAR_041061 VAR_041061 disease not phenotype-associated VAR_041062 commonName VAR_041062 VAR_041062 disease not phenotype-associated VAR_041063 commonName VAR_041063 VAR_041063 disease not phenotype-associated VAR_041064 comment A metastatic melanoma sample VAR_041064 commonName VAR_041064 VAR_041065 commonName VAR_041065 VAR_041065 disease not phenotype-associated VAR_041066 commonName VAR_041066 VAR_041066 disease not phenotype-associated VAR_041067 commonName VAR_041067 VAR_041067 disease not phenotype-associated VAR_041068 comment An ovarian mucinous carcinoma sample VAR_041068 commonName VAR_041068 VAR_041069 commonName VAR_041069 VAR_041069 disease not phenotype-associated VAR_041070 commonName VAR_041070 VAR_041070 disease not phenotype-associated VAR_041071 commonName VAR_041071 VAR_041071 disease not phenotype-associated VAR_041072 commonName VAR_041072 VAR_041072 disease not phenotype-associated VAR_041073 commonName VAR_041073 VAR_041073 disease not phenotype-associated VAR_041074 comment A lung adenocarcinoma sample VAR_041074 commonName VAR_041074 VAR_041075 commonName VAR_041075 VAR_041075 disease not phenotype-associated VAR_041076 commonName VAR_041076 VAR_041076 disease not phenotype-associated VAR_041077 commonName VAR_041077 VAR_041077 disease not phenotype-associated VAR_041078 commonName VAR_041078 VAR_041078 disease not phenotype-associated VAR_041079 commonName VAR_041079 VAR_041079 disease not phenotype-associated VAR_041080 comment A lung adenocarcinoma sample VAR_041080 commonName VAR_041080 VAR_041081 commonName VAR_041081 VAR_041081 disease not phenotype-associated VAR_041082 comment An ovarian serous carcinoma sample VAR_041082 commonName VAR_041082 VAR_041083 commonName VAR_041083 VAR_041083 disease not phenotype-associated VAR_041084 commonName VAR_041084 VAR_041084 disease not phenotype-associated VAR_041085 commonName VAR_041085 VAR_041085 disease not phenotype-associated VAR_041086 commonName VAR_041086 VAR_041086 disease not phenotype-associated VAR_041087 commonName VAR_041087 VAR_041087 disease not phenotype-associated VAR_041088 commonName VAR_041088 VAR_041088 disease not phenotype-associated VAR_041089 comment A glioblastoma multiforme sample VAR_041089 commonName VAR_041089 VAR_041090 comment A metastatic melanoma sample VAR_041090 commonName VAR_041090 VAR_041091 commonName VAR_041091 VAR_041091 disease not phenotype-associated VAR_041092 commonName VAR_041092 VAR_041092 disease not phenotype-associated VAR_041093 commonName VAR_041093 VAR_041093 disease not phenotype-associated VAR_041094 commonName VAR_041094 VAR_041094 disease not phenotype-associated VAR_041095 commonName VAR_041095 VAR_041095 disease not phenotype-associated VAR_041096 commonName VAR_041096 VAR_041096 disease not phenotype-associated VAR_041097 commonName VAR_041097 VAR_041097 disease not phenotype-associated VAR_041101 commonName VAR_041101 VAR_041101 disease not phenotype-associated VAR_041102 commonName VAR_041102 VAR_041102 disease not phenotype-associated VAR_041103 commonName VAR_041103 VAR_041103 disease not phenotype-associated VAR_041104 commonName VAR_041104 VAR_041104 disease not phenotype-associated VAR_041105 commonName VAR_041105 VAR_041105 disease not phenotype-associated VAR_041106 comment A gastric adenocarcinoma sample VAR_041106 commonName VAR_041106 VAR_041107 commonName VAR_041107 VAR_041107 disease not phenotype-associated VAR_041108 commonName VAR_041108 VAR_041108 disease not phenotype-associated VAR_041109 commonName VAR_041109 VAR_041109 disease not phenotype-associated VAR_041110 comment An ovarian mucinous carcinoma sample VAR_041110 commonName VAR_041110 VAR_041111 commonName VAR_041111 VAR_041111 disease not phenotype-associated VAR_041112 comment A gastric adenocarcinoma sample VAR_041112 commonName VAR_041112 VAR_041113 commonName VAR_041113 VAR_041113 disease not phenotype-associated VAR_041114 commonName VAR_041114 VAR_041114 disease not phenotype-associated VAR_041115 comment A glioblastoma multiforme sample VAR_041115 commonName VAR_041115 VAR_041116 commonName VAR_041116 VAR_041116 disease not phenotype-associated VAR_041117 commonName VAR_041117 VAR_041117 disease not phenotype-associated VAR_041118 commonName VAR_041118 VAR_041118 disease not phenotype-associated VAR_041119 commonName VAR_041119 VAR_041119 disease not phenotype-associated VAR_041120 commonName VAR_041120 VAR_041120 disease not phenotype-associated VAR_041121 commonName VAR_041121 VAR_041121 disease not phenotype-associated VAR_041122 comment An ovarian clear cell carcinoma sample VAR_041122 commonName VAR_041122 VAR_041123 commonName VAR_041123 VAR_041123 disease not phenotype-associated VAR_041124 commonName VAR_041124 VAR_041124 disease not phenotype-associated VAR_041127 commonName VAR_041127 VAR_041127 disease not phenotype-associated VAR_041128 comment A colorectal adenocarcinoma sample VAR_041128 commonName VAR_041128 VAR_041129 comment A metastatic melanoma sample VAR_041129 commonName VAR_041129 VAR_041130 commonName VAR_041130 VAR_041130 disease not phenotype-associated VAR_041131 commonName VAR_041131 VAR_041131 disease not phenotype-associated VAR_041132 commonName VAR_041132 VAR_041132 disease not phenotype-associated VAR_041133 commonName VAR_041133 VAR_041133 disease not phenotype-associated VAR_041134 commonName VAR_041134 VAR_041134 disease not phenotype-associated VAR_041135 commonName VAR_041135 VAR_041135 disease not phenotype-associated VAR_041136 commonName VAR_041136 VAR_041136 disease not phenotype-associated VAR_041137 commonName VAR_041137 VAR_041137 disease not phenotype-associated VAR_041138 commonName VAR_041138 VAR_041138 disease not phenotype-associated VAR_041139 comment A metastatic melanoma sample VAR_041139 commonName VAR_041139 VAR_041140 commonName VAR_041140 VAR_041140 disease not phenotype-associated VAR_041141 commonName VAR_041141 VAR_041141 disease not phenotype-associated VAR_041142 commonName VAR_041142 VAR_041142 disease not phenotype-associated VAR_041143 commonName VAR_041143 VAR_041143 disease not phenotype-associated VAR_041144 commonName VAR_041144 VAR_041144 disease not phenotype-associated VAR_041145 commonName VAR_041145 VAR_041145 disease not phenotype-associated VAR_041146 commonName VAR_041146 VAR_041146 disease not phenotype-associated VAR_041147 commonName VAR_041147 VAR_041147 disease not phenotype-associated VAR_041148 commonName VAR_041148 VAR_041148 disease not phenotype-associated VAR_041149 commonName VAR_041149 VAR_041149 disease not phenotype-associated VAR_041150 commonName VAR_041150 VAR_041150 disease not phenotype-associated VAR_041151 commonName VAR_041151 VAR_041151 disease not phenotype-associated VAR_041152 commonName VAR_041152 VAR_041152 disease not phenotype-associated VAR_041153 commonName VAR_041153 VAR_041153 disease not phenotype-associated VAR_041154 commonName VAR_041154 VAR_041154 disease not phenotype-associated VAR_041155 commonName VAR_041155 VAR_041155 disease not phenotype-associated VAR_041156 commonName VAR_041156 VAR_041156 disease not phenotype-associated VAR_041157 commonName VAR_041157 VAR_041157 disease not phenotype-associated VAR_041158 comment A lung neuroendocrine carcinoma sample VAR_041158 commonName VAR_041158 VAR_041159 commonName VAR_041159 VAR_041159 disease not phenotype-associated VAR_041160 comment A lung small cell carcinoma sample VAR_041160 commonName VAR_041160 VAR_041163 commonName VAR_041163 VAR_041163 disease not phenotype-associated VAR_041164 comment A metastatic melanoma sample VAR_041164 commonName VAR_041164 VAR_041165 comment A lung neuroendocrine carcinoma sample VAR_041165 commonName VAR_041165 VAR_041166 comment A metastatic melanoma sample VAR_041166 commonName VAR_041166 VAR_041167 commonName VAR_041167 VAR_041167 disease not phenotype-associated VAR_041168 commonName VAR_041168 VAR_041168 disease not phenotype-associated VAR_041169 commonName VAR_041169 VAR_041169 disease not phenotype-associated VAR_041172 commonName VAR_041172 VAR_041172 disease not phenotype-associated VAR_041173 comment A lung large cell carcinoma sample VAR_041173 commonName VAR_041173 VAR_041177 commonName VAR_041177 VAR_041177 disease not phenotype-associated VAR_041178 commonName VAR_041178 VAR_041178 disease not phenotype-associated VAR_041179 commonName VAR_041179 VAR_041179 disease not phenotype-associated VAR_041180 commonName VAR_041180 VAR_041180 disease not phenotype-associated VAR_041181 commonName VAR_041181 VAR_041181 disease not phenotype-associated VAR_041182 commonName VAR_041182 VAR_041182 disease not phenotype-associated VAR_041183 commonName VAR_041183 VAR_041183 disease not phenotype-associated VAR_041184 commonName VAR_041184 VAR_041184 disease not phenotype-associated VAR_041185 comment A breast pleomorphic lobular carcinoma sample VAR_041185 commonName VAR_041185 VAR_041186 commonName VAR_041186 VAR_041186 disease not phenotype-associated VAR_041187 comment An ovarian papillary serous adenocarcinoma sample VAR_041187 commonName VAR_041187 VAR_041188 commonName VAR_041188 VAR_041188 disease not phenotype-associated VAR_041189 commonName VAR_041189 VAR_041189 disease not phenotype-associated VAR_041190 commonName VAR_041190 VAR_041190 disease not phenotype-associated VAR_041191 commonName VAR_041191 VAR_041191 disease not phenotype-associated VAR_041192 commonName VAR_041192 VAR_041192 disease not phenotype-associated VAR_041193 comment An ovarian serous carcinoma sample VAR_041193 commonName VAR_041193 VAR_041194 commonName VAR_041194 VAR_041195 commonName VAR_041195 VAR_041195 disease not phenotype-associated VAR_041196 comment A metastatic melanoma sample VAR_041196 commonName VAR_041196 VAR_041197 commonName VAR_041197 VAR_041197 disease not phenotype-associated VAR_041198 commonName VAR_041198 VAR_041198 disease not phenotype-associated VAR_041199 commonName VAR_041199 VAR_041200 commonName VAR_041200 VAR_041200 disease not phenotype-associated VAR_041201 comment A colorectal adenocarcinoma sample VAR_041201 commonName VAR_041201 VAR_041202 comment A colorectal adenocarcinoma sample VAR_041202 commonName VAR_041202 VAR_041203 commonName VAR_041203 VAR_041203 disease not phenotype-associated VAR_041204 commonName VAR_041204 VAR_041204 disease not phenotype-associated VAR_041205 comment A lung adenocarcinoma sample VAR_041205 commonName VAR_041205 VAR_041206 comment A lung small cell carcinoma sample VAR_041206 commonName VAR_041206 VAR_041207 commonName VAR_041207 VAR_041207 disease not phenotype-associated VAR_041208 commonName VAR_041208 VAR_041208 disease not phenotype-associated VAR_041209 commonName VAR_041209 VAR_041209 disease not phenotype-associated VAR_041210 comment A breast pleomorphic lobular carcinoma sample VAR_041210 commonName VAR_041210 VAR_041211 comment A colorectal adenocarcinoma sample VAR_041211 commonName VAR_041211 VAR_041212 commonName VAR_041212 VAR_041212 disease not phenotype-associated VAR_041214 comment A breast infiltrating ductal carcinoma sample VAR_041214 commonName VAR_041214 VAR_041215 commonName VAR_041215 VAR_041215 disease not phenotype-associated VAR_041216 commonName VAR_041216 VAR_041216 disease not phenotype-associated VAR_041217 commonName VAR_041217 VAR_041217 disease not phenotype-associated VAR_041218 commonName VAR_041218 VAR_041218 disease not phenotype-associated VAR_041219 commonName VAR_041219 VAR_041219 disease not phenotype-associated VAR_041220 commonName VAR_041220 VAR_041220 disease not phenotype-associated VAR_041221 comment A gastric adenocarcinoma sample VAR_041221 commonName VAR_041221 VAR_041222 commonName VAR_041222 VAR_041222 disease not phenotype-associated VAR_041223 commonName VAR_041223 VAR_041223 disease not phenotype-associated VAR_041224 commonName VAR_041224 VAR_041224 disease not phenotype-associated VAR_041225 commonName VAR_041225 VAR_041225 disease not phenotype-associated VAR_041226 comment A colorectal adenocarcinoma sample VAR_041226 commonName VAR_041226 VAR_041227 commonName VAR_041227 VAR_041227 disease not phenotype-associated VAR_041228 commonName VAR_041228 VAR_041228 disease not phenotype-associated VAR_041229 commonName VAR_041229 VAR_041229 disease not phenotype-associated VAR_041230 comment A head & Neck squamous cell carcinoma sample VAR_041230 commonName VAR_041230 VAR_041231 commonName VAR_041231 VAR_041231 disease not phenotype-associated VAR_041232 commonName VAR_041232 VAR_041232 disease not phenotype-associated VAR_041233 commonName VAR_041233 VAR_041233 disease not phenotype-associated VAR_041234 commonName VAR_041234 VAR_041234 disease not phenotype-associated VAR_041235 commonName VAR_041235 VAR_041235 disease not phenotype-associated VAR_041236 commonName VAR_041236 VAR_041236 disease not phenotype-associated VAR_041237 commonName VAR_041237 VAR_041237 disease not phenotype-associated VAR_041238 commonName VAR_041238 VAR_041238 disease not phenotype-associated VAR_041239 commonName VAR_041239 VAR_041239 disease not phenotype-associated VAR_041240 commonName VAR_041240 VAR_041240 disease not phenotype-associated VAR_041241 commonName VAR_041241 VAR_041241 disease not phenotype-associated VAR_041242 commonName VAR_041242 VAR_041242 disease not phenotype-associated VAR_041243 commonName VAR_041243 VAR_041243 disease not phenotype-associated VAR_041244 commonName VAR_041244 VAR_041244 disease not phenotype-associated VAR_041245 commonName VAR_041245 VAR_041245 disease not phenotype-associated VAR_041246 commonName VAR_041246 VAR_041246 disease not phenotype-associated VAR_041247 commonName VAR_041247 VAR_041247 disease not phenotype-associated VAR_041248 commonName VAR_041248 VAR_041248 disease not phenotype-associated VAR_041249 commonName VAR_041249 VAR_041249 disease not phenotype-associated VAR_041250 commonName VAR_041250 VAR_041250 disease not phenotype-associated VAR_041252 commonName VAR_041252 VAR_041252 disease not phenotype-associated VAR_041253 commonName VAR_041253 VAR_041253 disease not phenotype-associated VAR_041254 commonName VAR_041254 VAR_041254 disease not phenotype-associated VAR_041255 commonName VAR_041255 VAR_041255 disease not phenotype-associated VAR_041256 commonName VAR_041256 VAR_041256 disease not phenotype-associated VAR_041257 comment A lung large cell carcinoma sample VAR_041257 commonName VAR_041257 VAR_041258 comment A metastatic melanoma sample VAR_041258 commonName VAR_041258 VAR_041259 commonName VAR_041259 VAR_041259 disease not phenotype-associated VAR_041260 commonName VAR_041260 VAR_041260 disease not phenotype-associated VAR_041261 commonName VAR_041261 VAR_041261 disease not phenotype-associated VAR_041262 commonName VAR_041262 VAR_041262 disease not phenotype-associated VAR_041263 commonName VAR_041263 VAR_041263 disease not phenotype-associated VAR_041264 commonName VAR_041264 VAR_041264 disease not phenotype-associated VAR_041265 commonName VAR_041265 VAR_041265 disease not phenotype-associated VAR_041266 comment A lung small cell carcinoma sample VAR_041266 commonName VAR_041266 VAR_041267 commonName VAR_041267 VAR_041267 disease not phenotype-associated VAR_041268 commonName VAR_041268 VAR_041268 disease not phenotype-associated VAR_041269 commonName VAR_041269 VAR_041269 disease not phenotype-associated VAR_041270 commonName VAR_041270 VAR_041270 disease not phenotype-associated VAR_041272 commonName VAR_041272 VAR_041272 disease not phenotype-associated VAR_041273 commonName VAR_041273 VAR_041273 disease not phenotype-associated VAR_041274 comment An ovarian mucinous carcinoma sample VAR_041274 commonName VAR_041274 VAR_041275 commonName VAR_041275 VAR_041275 disease not phenotype-associated VAR_041276 commonName VAR_041276 VAR_041276 disease not phenotype-associated VAR_041277 commonName VAR_041277 VAR_041277 disease not phenotype-associated VAR_041278 commonName VAR_041278 VAR_041278 disease not phenotype-associated VAR_041279 commonName VAR_041279 VAR_041279 disease not phenotype-associated VAR_041280 comment A lung adenocarcinoma sample VAR_041280 commonName VAR_041280 VAR_041281 commonName VAR_041281 VAR_041281 disease not phenotype-associated VAR_041282 comment A metastatic melanoma sample VAR_041282 commonName VAR_041282 VAR_041283 comment A metastatic melanoma sample VAR_041283 commonName VAR_041283 VAR_041284 commonName VAR_041284 VAR_041284 disease not phenotype-associated VAR_041285 commonName VAR_041285 VAR_041285 disease not phenotype-associated VAR_041286 commonName VAR_041286 VAR_041286 disease not phenotype-associated VAR_041287 commonName VAR_041287 VAR_041287 disease not phenotype-associated VAR_041288 commonName VAR_041288 VAR_041288 disease not phenotype-associated VAR_041289 commonName VAR_041289 VAR_041289 disease not phenotype-associated VAR_041290 commonName VAR_041290 VAR_041290 disease not phenotype-associated VAR_041291 commonName VAR_041291 VAR_041291 disease not phenotype-associated VAR_041292 commonName VAR_041292 VAR_041292 disease not phenotype-associated VAR_041293 commonName VAR_041293 VAR_041293 disease not phenotype-associated VAR_041294 commonName VAR_041294 VAR_041294 disease not phenotype-associated VAR_041295 commonName VAR_041295 VAR_041295 disease not phenotype-associated VAR_041296 commonName VAR_041296 VAR_041296 disease not phenotype-associated VAR_041297 commonName VAR_041297 VAR_041297 disease not phenotype-associated VAR_041298 commonName VAR_041298 VAR_041298 disease not phenotype-associated VAR_041299 commonName VAR_041299 VAR_041299 disease not phenotype-associated VAR_041300 commonName VAR_041300 VAR_041300 disease not phenotype-associated VAR_041301 commonName VAR_041301 VAR_041301 disease not phenotype-associated VAR_041302 commonName VAR_041302 VAR_041302 disease not phenotype-associated VAR_041304 commonName VAR_041304 VAR_041304 disease not phenotype-associated VAR_041305 comment A gastric adenocarcinoma sample VAR_041305 commonName VAR_041305 VAR_041306 comment An ovarian mucinous carcinoma sample VAR_041306 commonName VAR_041306 VAR_041307 commonName VAR_041307 VAR_041307 disease not phenotype-associated VAR_041308 commonName VAR_041308 VAR_041308 disease not phenotype-associated VAR_041309 commonName VAR_041309 VAR_041309 disease not phenotype-associated VAR_041310 commonName VAR_041310 VAR_041310 disease not phenotype-associated VAR_041311 comment A breast pleomorphic lobular carcinoma sample VAR_041311 commonName VAR_041311 VAR_041312 commonName VAR_041312 VAR_041312 disease not phenotype-associated VAR_041313 commonName VAR_041313 VAR_041313 disease not phenotype-associated VAR_041314 commonName VAR_041314 VAR_041314 disease not phenotype-associated VAR_041315 commonName VAR_041315 VAR_041315 disease not phenotype-associated VAR_041316 commonName VAR_041316 VAR_041316 disease not phenotype-associated VAR_041317 commonName VAR_041317 VAR_041317 disease not phenotype-associated VAR_041318 commonName VAR_041318 VAR_041318 disease not phenotype-associated VAR_041319 commonName VAR_041319 VAR_041319 disease not phenotype-associated VAR_041320 comment A breast pleomorphic lobular carcinoma sample VAR_041320 commonName VAR_041320 VAR_041321 comment A lung adenocarcinoma sample VAR_041321 commonName VAR_041321 VAR_041322 commonName VAR_041322 VAR_041322 disease not phenotype-associated VAR_041323 commonName VAR_041323 VAR_041323 disease not phenotype-associated VAR_041324 comment A lung squamous cell carcinoma sample VAR_041324 commonName VAR_041324 VAR_041325 commonName VAR_041325 VAR_041325 disease not phenotype-associated VAR_041326 commonName VAR_041326 VAR_041326 disease not phenotype-associated VAR_041327 commonName VAR_041327 VAR_041327 disease not phenotype-associated VAR_041328 comment A lung large cell carcinoma sample VAR_041328 commonName VAR_041328 VAR_041329 comment A renal clear cell carcinoma sample VAR_041329 commonName VAR_041329 VAR_041330 comment An ovarian mucinous carcinoma sample VAR_041330 commonName VAR_041330 VAR_041334 comment A breast pleomorphic lobular carcinoma sample VAR_041334 commonName VAR_041334 VAR_041335 comment A metastatic melanoma sample VAR_041335 commonName VAR_041335 VAR_041336 commonName VAR_041336 VAR_041336 disease not phenotype-associated VAR_041337 comment A colorectal adenocarcinoma sample VAR_041337 commonName VAR_041337 VAR_041338 comment An ovarian serous carcinoma sample VAR_041338 commonName VAR_041338 VAR_041339 comment A colorectal adenocarcinoma sample VAR_041339 commonName VAR_041339 VAR_041340 commonName VAR_041340 VAR_041340 disease not phenotype-associated VAR_041342 commonName VAR_041342 VAR_041342 disease not phenotype-associated VAR_041343 commonName VAR_041343 VAR_041343 disease not phenotype-associated VAR_041344 commonName VAR_041344 VAR_041344 disease not phenotype-associated VAR_041345 commonName VAR_041345 VAR_041345 disease not phenotype-associated VAR_041346 comment A lung adenocarcinoma sample VAR_041346 commonName VAR_041346 VAR_041347 comment A lung adenocarcinoma sample VAR_041347 commonName VAR_041347 VAR_041348 commonName VAR_041348 VAR_041348 disease not phenotype-associated VAR_041349 commonName VAR_041349 VAR_041349 disease not phenotype-associated VAR_041350 commonName VAR_041350 VAR_041350 disease not phenotype-associated VAR_041351 commonName VAR_041351 VAR_041351 disease not phenotype-associated VAR_041352 commonName VAR_041352 VAR_041352 disease not phenotype-associated VAR_041353 commonName VAR_041353 VAR_041353 disease not phenotype-associated VAR_041354 commonName VAR_041354 VAR_041354 disease not phenotype-associated VAR_041355 comment A gastric adenocarcinoma sample VAR_041355 commonName VAR_041355 VAR_041356 commonName VAR_041356 VAR_041356 disease not phenotype-associated VAR_041357 comment A gastric adenocarcinoma sample VAR_041357 commonName VAR_041357 VAR_041358 commonName VAR_041358 VAR_041358 disease not phenotype-associated VAR_041364 commonName VAR_041364 VAR_041364 disease not phenotype-associated VAR_041365 comment A metastatic melanoma sample VAR_041365 commonName VAR_041365 VAR_041366 commonName VAR_041366 VAR_041366 disease not phenotype-associated VAR_041367 commonName VAR_041367 VAR_041367 disease not phenotype-associated VAR_041368 commonName VAR_041368 VAR_041368 disease not phenotype-associated VAR_041371 comment A glioblastoma multiforme sample VAR_041371 commonName VAR_041371 VAR_041372 commonName VAR_041372 VAR_041372 disease not phenotype-associated VAR_041373 commonName VAR_041373 VAR_041373 disease not phenotype-associated VAR_041374 commonName VAR_041374 VAR_041374 disease not phenotype-associated VAR_041375 commonName VAR_041375 VAR_041375 disease not phenotype-associated VAR_041376 comment A lung small cell carcinoma sample VAR_041376 commonName VAR_041376 VAR_041377 commonName VAR_041377 VAR_041377 disease not phenotype-associated VAR_041378 commonName VAR_041378 VAR_041378 disease not phenotype-associated VAR_041379 commonName VAR_041379 VAR_041379 disease not phenotype-associated VAR_041380 commonName VAR_041380 VAR_041380 disease not phenotype-associated VAR_041381 commonName VAR_041381 VAR_041381 disease not phenotype-associated VAR_041382 commonName VAR_041382 VAR_041382 disease not phenotype-associated VAR_041383 commonName VAR_041383 VAR_041383 disease not phenotype-associated VAR_041384 commonName VAR_041384 VAR_041384 disease not phenotype-associated VAR_041385 comment A colorectal adenocarcinoma sample VAR_041385 commonName VAR_041385 VAR_041388 commonName VAR_041388 VAR_041388 disease not phenotype-associated VAR_041389 comment A gastric adenocarcinoma sample VAR_041389 commonName VAR_041389 VAR_041390 commonName VAR_041390 VAR_041390 disease not phenotype-associated VAR_041391 commonName VAR_041391 VAR_041391 disease not phenotype-associated VAR_041392 commonName VAR_041392 VAR_041392 disease not phenotype-associated VAR_041393 commonName VAR_041393 VAR_041393 disease not phenotype-associated VAR_041394 commonName VAR_041394 VAR_041394 disease not phenotype-associated VAR_041395 comment A melanoma sample VAR_041395 commonName VAR_041395 VAR_041396 commonName VAR_041396 VAR_041396 disease not phenotype-associated VAR_041397 commonName VAR_041397 VAR_041397 disease not phenotype-associated VAR_041398 comment A renal clear cell carcinoma sample VAR_041398 commonName VAR_041398 VAR_041399 commonName VAR_041399 VAR_041399 disease not phenotype-associated VAR_041400 comment A gastric adenocarcinoma sample VAR_041400 commonName VAR_041400 VAR_041401 comment A gastric adenocarcinoma sample VAR_041401 commonName VAR_041401 VAR_041402 commonName VAR_041402 VAR_041402 disease not phenotype-associated VAR_041403 commonName VAR_041403 VAR_041403 disease not phenotype-associated VAR_041404 comment A metastatic melanoma sample VAR_041404 commonName VAR_041404 VAR_041405 commonName VAR_041405 VAR_041405 disease not phenotype-associated VAR_041406 commonName VAR_041406 VAR_041406 disease not phenotype-associated VAR_041407 commonName VAR_041407 VAR_041407 disease not phenotype-associated VAR_041408 commonName VAR_041408 VAR_041408 disease not phenotype-associated VAR_041409 comment A lung squamous cell carcinoma sample VAR_041409 commonName VAR_041409 VAR_041410 commonName VAR_041410 VAR_041410 disease not phenotype-associated VAR_041411 commonName VAR_041411 VAR_041411 disease not phenotype-associated VAR_041412 commonName VAR_041412 VAR_041412 disease not phenotype-associated VAR_041413 commonName VAR_041413 VAR_041413 disease not phenotype-associated VAR_041414 comment A gastric adenocarcinoma sample VAR_041414 commonName VAR_041414 VAR_041418 commonName VAR_041418 VAR_041418 disease not phenotype-associated VAR_041419 commonName VAR_041419 VAR_041419 disease not phenotype-associated VAR_041420 commonName VAR_041420 VAR_041420 disease not phenotype-associated VAR_041421 commonName VAR_041421 VAR_041421 disease not phenotype-associated VAR_041422 commonName VAR_041422 VAR_041422 disease not phenotype-associated VAR_041423 commonName VAR_041423 VAR_041423 disease not phenotype-associated VAR_041424 commonName VAR_041424 VAR_041425 commonName VAR_041425 VAR_041425 disease not phenotype-associated VAR_041429 comment A gastric adenocarcinoma sample VAR_041429 commonName VAR_041429 VAR_041430 commonName VAR_041430 VAR_041430 disease not phenotype-associated VAR_041434 commonName VAR_041434 VAR_041434 disease not phenotype-associated VAR_041435 commonName VAR_041435 VAR_041435 disease not phenotype-associated VAR_041436 commonName VAR_041436 VAR_041436 disease not phenotype-associated VAR_041437 commonName VAR_041437 VAR_041437 disease not phenotype-associated VAR_041438 comment A lung adenocarcinoma sample VAR_041438 commonName VAR_041438 VAR_041439 commonName VAR_041439 VAR_041439 disease not phenotype-associated VAR_041440 commonName VAR_041440 VAR_041440 disease not phenotype-associated VAR_041441 comment A glioblastoma multiforme sample VAR_041441 commonName VAR_041441 VAR_041442 commonName VAR_041442 VAR_041442 disease not phenotype-associated VAR_041443 commonName VAR_041443 VAR_041443 disease not phenotype-associated VAR_041444 commonName VAR_041444 VAR_041444 disease not phenotype-associated VAR_041445 commonName VAR_041445 VAR_041445 disease not phenotype-associated VAR_041446 commonName VAR_041446 VAR_041446 disease not phenotype-associated VAR_041447 comment A gastric adenocarcinoma sample VAR_041447 commonName VAR_041447 VAR_041448 commonName VAR_041448 VAR_041448 disease not phenotype-associated VAR_041449 commonName VAR_041449 VAR_041449 disease not phenotype-associated VAR_041450 comment A lung large cell carcinoma sample VAR_041450 commonName VAR_041450 VAR_041451 commonName VAR_041451 VAR_041451 disease not phenotype-associated VAR_041452 commonName VAR_041452 VAR_041452 disease not phenotype-associated VAR_041453 commonName VAR_041453 VAR_041453 disease not phenotype-associated VAR_041454 commonName VAR_041454 VAR_041454 disease not phenotype-associated VAR_041455 commonName VAR_041455 VAR_041455 disease not phenotype-associated VAR_041456 comment A colorectal adenocarcinoma sample VAR_041456 commonName VAR_041456 VAR_041457 comment A gastric adenocarcinoma sample VAR_041457 commonName VAR_041457 VAR_041458 commonName VAR_041458 VAR_041458 disease not phenotype-associated VAR_041459 commonName VAR_041459 VAR_041459 disease not phenotype-associated VAR_041460 commonName VAR_041460 VAR_041460 disease not phenotype-associated VAR_041461 commonName VAR_041461 VAR_041461 disease not phenotype-associated VAR_041462 comment An ovarian serous carcinoma sample VAR_041462 commonName VAR_041462 VAR_041463 commonName VAR_041463 VAR_041463 disease not phenotype-associated VAR_041464 commonName VAR_041464 VAR_041464 disease not phenotype-associated VAR_041465 commonName VAR_041465 VAR_041465 disease not phenotype-associated VAR_041466 commonName VAR_041466 VAR_041466 disease not phenotype-associated VAR_041467 commonName VAR_041467 VAR_041467 disease not phenotype-associated VAR_041468 commonName VAR_041468 VAR_041468 disease not phenotype-associated VAR_041469 commonName VAR_041469 VAR_041469 disease not phenotype-associated VAR_041470 comment A lung adenocarcinoma sample VAR_041470 commonName VAR_041470 VAR_041471 comment A gastric adenocarcinoma sample VAR_041471 commonName VAR_041471 VAR_041472 commonName VAR_041472 VAR_041472 disease not phenotype-associated VAR_041473 comment A lung adenocarcinoma sample VAR_041473 commonName VAR_041473 VAR_041474 comment A lung adenocarcinoma sample VAR_041474 commonName VAR_041474 VAR_041475 comment A lung adenocarcinoma sample VAR_041475 commonName VAR_041475 VAR_041476 commonName VAR_041476 VAR_041476 disease not phenotype-associated VAR_041477 commonName VAR_041477 VAR_041477 disease not phenotype-associated VAR_041478 commonName VAR_041478 VAR_041478 disease not phenotype-associated VAR_041479 commonName VAR_041479 VAR_041479 disease not phenotype-associated VAR_041480 commonName VAR_041480 VAR_041480 disease not phenotype-associated VAR_041481 comment A breast pleomorphic lobular carcinoma sample VAR_041481 commonName VAR_041481 VAR_041482 commonName VAR_041482 VAR_041482 disease not phenotype-associated VAR_041483 commonName VAR_041483 VAR_041483 disease not phenotype-associated VAR_041484 comment An ovarian serous carcinoma sample VAR_041484 commonName VAR_041484 VAR_041485 commonName VAR_041485 VAR_041485 disease not phenotype-associated VAR_041486 commonName VAR_041486 VAR_041486 disease not phenotype-associated VAR_041487 commonName VAR_041487 VAR_041487 disease not phenotype-associated VAR_041488 commonName VAR_041488 VAR_041488 disease not phenotype-associated VAR_041489 commonName VAR_041489 VAR_041489 disease not phenotype-associated VAR_041490 commonName VAR_041490 VAR_041490 disease not phenotype-associated VAR_041491 commonName VAR_041491 VAR_041491 disease not phenotype-associated VAR_041498 comment A lung large cell carcinoma sample VAR_041498 commonName VAR_041498 VAR_041499 commonName VAR_041499 VAR_041499 disease not phenotype-associated VAR_041500 commonName VAR_041500 VAR_041500 disease not phenotype-associated VAR_041501 commonName VAR_041501 VAR_041501 disease not phenotype-associated VAR_041502 commonName VAR_041502 VAR_041502 disease not phenotype-associated VAR_041503 commonName VAR_041503 VAR_041503 disease not phenotype-associated VAR_041504 commonName VAR_041504 VAR_041504 disease not phenotype-associated VAR_041505 commonName VAR_041505 VAR_041505 disease not phenotype-associated VAR_041506 commonName VAR_041506 VAR_041506 disease not phenotype-associated VAR_041507 commonName VAR_041507 VAR_041507 disease not phenotype-associated VAR_041508 comment A colorectal adenocarcinoma sample VAR_041508 commonName VAR_041508 VAR_041509 commonName VAR_041509 VAR_041509 disease not phenotype-associated VAR_041510 commonName VAR_041510 VAR_041510 disease not phenotype-associated VAR_041511 commonName VAR_041511 VAR_041511 disease not phenotype-associated VAR_041512 commonName VAR_041512 VAR_041512 disease not phenotype-associated VAR_041513 commonName VAR_041513 VAR_041513 disease not phenotype-associated VAR_041514 comment An ovarian mucinous carcinoma sample VAR_041514 commonName VAR_041514 VAR_041515 commonName VAR_041515 VAR_041515 disease not phenotype-associated VAR_041516 commonName VAR_041516 VAR_041516 disease not phenotype-associated VAR_041517 commonName VAR_041517 VAR_041517 disease not phenotype-associated VAR_041518 commonName VAR_041518 VAR_041518 disease not phenotype-associated VAR_041519 commonName VAR_041519 VAR_041519 disease not phenotype-associated VAR_041520 commonName VAR_041520 VAR_041520 disease not phenotype-associated VAR_041524 commonName VAR_041524 VAR_041524 disease not phenotype-associated VAR_041525 commonName VAR_041525 VAR_041525 disease not phenotype-associated VAR_041526 comment A lung large cell carcinoma sample VAR_041526 commonName VAR_041526 VAR_041527 commonName VAR_041527 VAR_041527 disease not phenotype-associated VAR_041528 commonName VAR_041528 VAR_041528 disease not phenotype-associated VAR_041529 commonName VAR_041529 VAR_041529 disease not phenotype-associated VAR_041530 commonName VAR_041530 VAR_041530 disease not phenotype-associated VAR_041531 comment A metastatic melanoma sample VAR_041531 commonName VAR_041531 VAR_041532 commonName VAR_041532 VAR_041532 disease not phenotype-associated VAR_041533 commonName VAR_041533 VAR_041533 disease not phenotype-associated VAR_041534 comment A colorectal adenocarcinoma sample VAR_041534 commonName VAR_041534 VAR_041535 commonName VAR_041535 VAR_041535 disease not phenotype-associated VAR_041536 commonName VAR_041536 VAR_041536 disease not phenotype-associated VAR_041537 comment A lung large cell carcinoma sample VAR_041537 commonName VAR_041537 VAR_041538 comment A metastatic melanoma sample VAR_041538 commonName VAR_041538 VAR_041539 commonName VAR_041539 VAR_041539 disease not phenotype-associated VAR_041540 commonName VAR_041540 VAR_041540 disease not phenotype-associated VAR_041541 commonName VAR_041541 VAR_041541 disease not phenotype-associated VAR_041542 comment An ovarian mucinous carcinoma sample VAR_041542 commonName VAR_041542 VAR_041543 comment A colorectal adenocarcinoma sample VAR_041543 commonName VAR_041543 VAR_041544 comment A glioblastoma multiforme sample VAR_041544 commonName VAR_041544 VAR_041545 comment A colorectal adenocarcinoma sample VAR_041545 commonName VAR_041545 VAR_041546 commonName VAR_041546 VAR_041546 disease not phenotype-associated VAR_041547 commonName VAR_041547 VAR_041547 disease not phenotype-associated VAR_041548 commonName VAR_041548 VAR_041548 disease not phenotype-associated VAR_041549 comment A colorectal adenocarcinoma sample VAR_041549 commonName VAR_041549 VAR_041550 comment A colorectal adenocarcinoma sample VAR_041550 commonName VAR_041550 VAR_041551 commonName VAR_041551 VAR_041551 disease not phenotype-associated VAR_041552 commonName VAR_041552 VAR_041552 disease not phenotype-associated VAR_041553 comment A colorectal adenocarcinoma sample VAR_041553 commonName VAR_041553 VAR_041554 commonName VAR_041554 VAR_041554 disease not phenotype-associated VAR_041555 commonName VAR_041555 VAR_041555 disease not phenotype-associated VAR_041556 comment A lung adenocarcinoma sample VAR_041556 commonName VAR_041556 VAR_041557 commonName VAR_041557 VAR_041557 disease not phenotype-associated VAR_041558 commonName VAR_041558 VAR_041558 disease not phenotype-associated VAR_041559 commonName VAR_041559 VAR_041559 disease not phenotype-associated VAR_041560 comment A gastric adenocarcinoma sample VAR_041560 commonName VAR_041560 VAR_041561 commonName VAR_041561 VAR_041561 disease not phenotype-associated VAR_041562 commonName VAR_041562 VAR_041562 disease not phenotype-associated VAR_041563 commonName VAR_041563 VAR_041563 disease not phenotype-associated VAR_041564 comment A renal papillary cancer sample VAR_041564 commonName VAR_041564 VAR_041565 commonName VAR_041565 VAR_041565 disease not phenotype-associated VAR_041566 commonName VAR_041566 VAR_041566 disease not phenotype-associated VAR_041584 commonName VAR_041584 VAR_041584 disease not phenotype-associated VAR_041585 commonName VAR_041585 VAR_041585 disease not phenotype-associated VAR_041586 commonName VAR_041586 VAR_041586 disease not phenotype-associated VAR_041587 commonName VAR_041587 VAR_041587 disease not phenotype-associated VAR_041588 commonName VAR_041588 VAR_041588 disease not phenotype-associated VAR_041589 commonName VAR_041589 VAR_041589 disease not phenotype-associated VAR_041590 commonName VAR_041590 VAR_041590 disease not phenotype-associated VAR_041591 comment A lung squamous cell carcinoma sample VAR_041591 commonName VAR_041591 VAR_041592 commonName VAR_041592 VAR_041592 disease not phenotype-associated VAR_041593 commonName VAR_041593 VAR_041593 disease not phenotype-associated VAR_041594 comment A lung adenocarcinoma sample VAR_041594 commonName VAR_041594 VAR_041595 commonName VAR_041595 VAR_041595 disease not phenotype-associated VAR_041596 commonName VAR_041596 VAR_041596 disease not phenotype-associated VAR_041597 comment A lung large cell carcinoma sample VAR_041597 commonName VAR_041597 VAR_041598 commonName VAR_041598 VAR_041598 disease not phenotype-associated VAR_041599 commonName VAR_041599 VAR_041599 disease not phenotype-associated VAR_041600 comment A breast pleomorphic lobular carcinoma sample VAR_041600 commonName VAR_041600 VAR_041601 comment A breast infiltrating ductal carcinoma sample VAR_041601 commonName VAR_041601 VAR_041602 comment A lung adenocarcinoma sample VAR_041602 commonName VAR_041602 VAR_041603 commonName VAR_041603 VAR_041603 disease not phenotype-associated VAR_041604 comment A metastatic melanoma sample VAR_041604 commonName VAR_041604 VAR_041605 commonName VAR_041605 VAR_041605 disease not phenotype-associated VAR_041606 comment A colorectal adenocarcinoma sample VAR_041606 commonName VAR_041606 VAR_041607 commonName VAR_041607 VAR_041607 disease not phenotype-associated VAR_041608 commonName VAR_041608 VAR_041608 disease not phenotype-associated VAR_041609 commonName VAR_041609 VAR_041609 disease not phenotype-associated VAR_041610 comment A lung squamous cell carcinoma sample VAR_041610 commonName VAR_041610 VAR_041611 commonName VAR_041611 VAR_041611 disease not phenotype-associated VAR_041612 comment A metastatic melanoma sample VAR_041612 commonName VAR_041612 VAR_041613 commonName VAR_041613 VAR_041613 disease not phenotype-associated VAR_041614 commonName VAR_041614 VAR_041614 disease not phenotype-associated VAR_041615 comment A metastatic melanoma sample VAR_041615 commonName VAR_041615 VAR_041616 comment A lung neuroendocrine carcinoma sample VAR_041616 commonName VAR_041616 VAR_041617 commonName VAR_041617 VAR_041617 disease not phenotype-associated VAR_041618 commonName VAR_041618 VAR_041618 disease not phenotype-associated VAR_041619 commonName VAR_041619 VAR_041619 disease not phenotype-associated VAR_041620 commonName VAR_041620 VAR_041620 disease not phenotype-associated VAR_041621 commonName VAR_041621 VAR_041621 disease not phenotype-associated VAR_041622 commonName VAR_041622 VAR_041622 disease not phenotype-associated VAR_041623 commonName VAR_041623 VAR_041623 disease not phenotype-associated VAR_041624 commonName VAR_041624 VAR_041624 disease not phenotype-associated VAR_041625 commonName VAR_041625 VAR_041625 disease not phenotype-associated VAR_041626 commonName VAR_041626 VAR_041626 disease not phenotype-associated VAR_041627 commonName VAR_041627 VAR_041627 disease not phenotype-associated VAR_041628 commonName VAR_041628 VAR_041628 disease not phenotype-associated VAR_041629 commonName VAR_041629 VAR_041629 disease not phenotype-associated VAR_041630 commonName VAR_041630 VAR_041630 disease not phenotype-associated HbVar.681 ethnic Greek VAR_041631 commonName VAR_041631 VAR_041631 disease not phenotype-associated VAR_041632 commonName VAR_041632 VAR_041632 disease not phenotype-associated VAR_041633 commonName VAR_041633 VAR_041633 disease not phenotype-associated VAR_041634 commonName VAR_041634 VAR_041634 disease not phenotype-associated VAR_041635 commonName VAR_041635 VAR_041635 disease not phenotype-associated VAR_041636 commonName VAR_041636 VAR_041636 disease not phenotype-associated VAR_041637 commonName VAR_041637 VAR_041637 disease not phenotype-associated VAR_041638 commonName VAR_041638 VAR_041638 disease not phenotype-associated VAR_041639 commonName VAR_041639 VAR_041639 disease not phenotype-associated VAR_041640 commonName VAR_041640 VAR_041640 disease not phenotype-associated VAR_041641 commonName VAR_041641 VAR_041641 disease not phenotype-associated VAR_041642 commonName VAR_041642 VAR_041642 disease not phenotype-associated VAR_041643 commonName VAR_041643 VAR_041643 disease not phenotype-associated VAR_041644 commonName VAR_041644 VAR_041644 disease not phenotype-associated VAR_041645 commonName VAR_041645 VAR_041645 disease not phenotype-associated VAR_041646 commonName VAR_041646 VAR_041646 disease not phenotype-associated VAR_041647 commonName VAR_041647 VAR_041647 disease not phenotype-associated VAR_041648 commonName VAR_041648 VAR_041648 disease not phenotype-associated VAR_041649 commonName VAR_041649 VAR_041649 disease not phenotype-associated VAR_041650 comment A breast pleomorphic lobular carcinoma sample VAR_041650 commonName VAR_041650 VAR_041651 commonName VAR_041651 VAR_041651 disease not phenotype-associated VAR_041652 commonName VAR_041652 VAR_041652 disease not phenotype-associated VAR_041658 comment An ovarian serous carcinoma sample VAR_041658 commonName VAR_041658 VAR_041659 commonName VAR_041659 VAR_041659 disease not phenotype-associated VAR_041660 comment A colorectal adenocarcinoma sample VAR_041660 commonName VAR_041660 VAR_041661 comment A gastric adenocarcinoma sample VAR_041661 commonName VAR_041661 VAR_041662 commonName VAR_041662 VAR_041662 disease not phenotype-associated VAR_041663 comment A colorectal adenocarcinoma sample VAR_041663 commonName VAR_041663 VAR_041664 comment An ovarian mucinous carcinoma sample VAR_041664 commonName VAR_041664 VAR_041665 commonName VAR_041665 VAR_041665 disease not phenotype-associated VAR_041666 comment A colorectal adenocarcinoma sample VAR_041666 commonName VAR_041666 VAR_041667 commonName VAR_041667 VAR_041667 disease not phenotype-associated VAR_041668 comment A lung large cell carcinoma sample VAR_041668 commonName VAR_041668 VAR_041669 commonName VAR_041669 VAR_041669 disease not phenotype-associated VAR_041670 commonName VAR_041670 VAR_041670 disease not phenotype-associated VAR_041671 comment A colorectal adenocarcinoma sample VAR_041671 commonName VAR_041671 VAR_041672 commonName VAR_041672 VAR_041672 disease not phenotype-associated VAR_041673 commonName VAR_041673 VAR_041673 disease not phenotype-associated VAR_041674 commonName VAR_041674 VAR_041674 disease not phenotype-associated VAR_041675 comment A lung large cell carcinoma sample VAR_041675 commonName VAR_041675 VAR_041676 commonName VAR_041676 VAR_041676 disease not phenotype-associated VAR_041677 comment A lung large cell carcinoma sample VAR_041677 commonName VAR_041677 VAR_041678 commonName VAR_041678 VAR_041678 disease not phenotype-associated VAR_041679 comment An ovarian mucinous carcinoma sample VAR_041679 commonName VAR_041679 VAR_041680 commonName VAR_041680 VAR_041680 disease not phenotype-associated VAR_041681 comment A colorectal adenocarcinoma sample VAR_041681 commonName VAR_041681 VAR_041682 commonName VAR_041682 VAR_041682 disease not phenotype-associated VAR_041683 commonName VAR_041683 VAR_041683 disease not phenotype-associated VAR_041684 comment A glioblastoma multiforme sample VAR_041684 commonName VAR_041684 VAR_041685 commonName VAR_041685 VAR_041685 disease not phenotype-associated VAR_041686 comment A metastatic melanoma sample VAR_041686 commonName VAR_041686 VAR_041687 commonName VAR_041687 VAR_041687 disease not phenotype-associated VAR_041688 commonName VAR_041688 VAR_041688 disease not phenotype-associated VAR_041689 commonName VAR_041689 VAR_041689 disease not phenotype-associated VAR_041690 commonName VAR_041690 VAR_041690 disease not phenotype-associated VAR_041691 commonName VAR_041691 VAR_041691 disease not phenotype-associated VAR_041692 comment An ovarian Endometrioid carcinoma sample VAR_041692 commonName VAR_041692 VAR_041693 commonName VAR_041693 VAR_041693 disease not phenotype-associated VAR_041694 commonName VAR_041694 VAR_041694 disease not phenotype-associated VAR_041695 comment A lung small cell carcinoma sample VAR_041695 commonName VAR_041695 VAR_041697 commonName VAR_041697 VAR_041697 disease not phenotype-associated VAR_041698 commonName VAR_041698 VAR_041698 disease not phenotype-associated VAR_041699 commonName VAR_041699 VAR_041699 disease not phenotype-associated VAR_041700 commonName VAR_041700 VAR_041700 disease not phenotype-associated VAR_041701 commonName VAR_041701 VAR_041701 disease not phenotype-associated VAR_041702 commonName VAR_041702 VAR_041702 disease not phenotype-associated VAR_041703 commonName VAR_041703 VAR_041703 disease not phenotype-associated VAR_041704 comment A lung squamous cell carcinoma sample VAR_041704 commonName VAR_041704 VAR_041705 comment A metastatic melanoma sample VAR_041705 commonName VAR_041705 VAR_041706 commonName VAR_041706 VAR_041706 disease not phenotype-associated VAR_041707 commonName VAR_041707 VAR_041707 disease not phenotype-associated VAR_041708 commonName VAR_041708 VAR_041708 disease not phenotype-associated VAR_041709 comment An ovarian mucinous carcinoma sample VAR_041709 commonName VAR_041709 VAR_041710 comment A metastatic melanoma sample VAR_041710 commonName VAR_041710 VAR_041711 comment A metastatic melanoma sample VAR_041711 commonName VAR_041711 VAR_041712 comment A gastric adenocarcinoma sample VAR_041712 commonName VAR_041712 VAR_041713 commonName VAR_041713 VAR_041713 disease not phenotype-associated VAR_041714 commonName VAR_041714 VAR_041714 disease not phenotype-associated VAR_041715 commonName VAR_041715 VAR_041715 disease not phenotype-associated VAR_041716 commonName VAR_041716 VAR_041716 disease not phenotype-associated VAR_041717 comment An ovarian serous carcinoma sample VAR_041717 commonName VAR_041717 VAR_041718 commonName VAR_041718 VAR_041718 disease not phenotype-associated VAR_041719 commonName VAR_041719 VAR_041719 disease not phenotype-associated VAR_041720 commonName VAR_041720 VAR_041720 disease not phenotype-associated VAR_041721 commonName VAR_041721 VAR_041721 disease not phenotype-associated VAR_041722 commonName VAR_041722 VAR_041722 disease not phenotype-associated VAR_041723 commonName VAR_041723 VAR_041723 disease not phenotype-associated VAR_041724 commonName VAR_041724 VAR_041724 disease not phenotype-associated VAR_041725 comment A gastric adenocarcinoma sample VAR_041725 commonName VAR_041725 VAR_041726 commonName VAR_041726 VAR_041726 disease not phenotype-associated VAR_041727 comment A lung large cell carcinoma sample VAR_041727 commonName VAR_041727 VAR_041728 commonName VAR_041728 VAR_041728 disease not phenotype-associated VAR_041729 commonName VAR_041729 VAR_041729 disease not phenotype-associated VAR_041730 commonName VAR_041730 VAR_041730 disease not phenotype-associated VAR_041731 commonName VAR_041731 VAR_041731 disease not phenotype-associated VAR_041732 commonName VAR_041732 VAR_041732 disease not phenotype-associated VAR_041733 commonName VAR_041733 VAR_041733 disease not phenotype-associated VAR_041734 commonName VAR_041734 VAR_041734 disease not phenotype-associated VAR_041735 commonName VAR_041735 VAR_041735 disease not phenotype-associated VAR_041736 commonName VAR_041736 VAR_041736 disease not phenotype-associated VAR_041737 comment A breast pleomorphic lobular carcinoma sample VAR_041737 commonName VAR_041737 VAR_041738 commonName VAR_041738 VAR_041738 disease not phenotype-associated VAR_041739 commonName VAR_041739 VAR_041739 disease not phenotype-associated VAR_041740 commonName VAR_041740 VAR_041740 disease not phenotype-associated VAR_041741 commonName VAR_041741 VAR_041741 disease not phenotype-associated VAR_041742 commonName VAR_041742 VAR_041742 disease not phenotype-associated VAR_041743 comment A renal clear cell carcinoma sample VAR_041743 commonName VAR_041743 VAR_041744 commonName VAR_041744 VAR_041744 disease not phenotype-associated VAR_041745 commonName VAR_041745 VAR_041745 disease not phenotype-associated VAR_041746 comment A head & Neck squamous cell carcinoma sample VAR_041746 commonName VAR_041746 VAR_041747 commonName VAR_041747 VAR_041747 disease not phenotype-associated VAR_041748 commonName VAR_041748 VAR_041748 disease not phenotype-associated VAR_041749 commonName VAR_041749 VAR_041749 disease not phenotype-associated VAR_041750 commonName VAR_041750 VAR_041750 disease not phenotype-associated VAR_041751 commonName VAR_041751 VAR_041751 disease not phenotype-associated VAR_041752 commonName VAR_041752 VAR_041752 disease not phenotype-associated VAR_041753 commonName VAR_041753 VAR_041753 disease not phenotype-associated VAR_041754 commonName VAR_041754 VAR_041754 disease not phenotype-associated VAR_041755 commonName VAR_041755 VAR_041755 disease not phenotype-associated VAR_041756 commonName VAR_041756 VAR_041756 disease not phenotype-associated VAR_041757 commonName VAR_041757 VAR_041757 disease not phenotype-associated VAR_041758 comment A lung neuroendocrine carcinoma sample VAR_041758 commonName VAR_041758 VAR_041759 commonName VAR_041759 VAR_041759 disease not phenotype-associated VAR_041760 commonName VAR_041760 VAR_041761 commonName VAR_041761 VAR_041761 disease not phenotype-associated VAR_041762 comment A colorectal adenocarcinoma sample VAR_041762 commonName VAR_041762 VAR_041763 commonName VAR_041763 VAR_041763 disease not phenotype-associated VAR_041764 commonName VAR_041764 VAR_041765 commonName VAR_041765 VAR_041765 disease not phenotype-associated VAR_041766 commonName VAR_041766 VAR_041766 disease not phenotype-associated VAR_041767 comment A bladder transitional cell carcinoma sample VAR_041767 commonName VAR_041767 VAR_041768 commonName VAR_041768 VAR_041768 disease not phenotype-associated VAR_041769 commonName VAR_041769 VAR_041769 disease not phenotype-associated VAR_041770 commonName VAR_041770 VAR_041770 disease not phenotype-associated VAR_041771 commonName VAR_041771 VAR_041771 disease not phenotype-associated HbVar.681 phenoCommon Hemoglobin variant VAR_041772 commonName VAR_041772 VAR_041772 disease not phenotype-associated VAR_041773 commonName VAR_041773 VAR_041773 disease not phenotype-associated VAR_041774 commonName VAR_041774 VAR_041774 disease not phenotype-associated VAR_041775 commonName VAR_041775 VAR_041775 disease not phenotype-associated VAR_041776 commonName VAR_041776 VAR_041776 disease not phenotype-associated VAR_041777 commonName VAR_041777 VAR_041777 disease not phenotype-associated VAR_041778 commonName VAR_041778 VAR_041778 disease not phenotype-associated VAR_041779 comment A metastatic melanoma sample VAR_041779 commonName VAR_041779 VAR_041780 comment An ovarian mucinous carcinoma sample VAR_041780 commonName VAR_041780 VAR_041781 comment A renal clear cell carcinoma sample VAR_041781 commonName VAR_041781 VAR_041782 commonName VAR_041782 VAR_041782 disease not phenotype-associated VAR_041783 comment A colorectal adenocarcinoma sample VAR_041783 commonName VAR_041783 VAR_041784 commonName VAR_041784 VAR_041784 disease not phenotype-associated VAR_041785 commonName VAR_041785 VAR_041785 disease not phenotype-associated VAR_041786 comment A colorectal adenocarcinoma sample VAR_041786 commonName VAR_041786 VAR_041787 commonName VAR_041787 VAR_041787 disease not phenotype-associated VAR_041788 commonName VAR_041788 VAR_041788 disease not phenotype-associated VAR_041789 commonName VAR_041789 VAR_041789 disease not phenotype-associated VAR_041790 commonName VAR_041790 VAR_041790 disease not phenotype-associated VAR_041791 comment A colorectal adenocarcinoma sample VAR_041791 commonName VAR_041791 VAR_041792 commonName VAR_041792 VAR_041792 disease not phenotype-associated VAR_041793 commonName VAR_041793 VAR_041793 disease not phenotype-associated VAR_041794 commonName VAR_041794 VAR_041794 disease not phenotype-associated VAR_041795 commonName VAR_041795 VAR_041795 disease not phenotype-associated VAR_041796 commonName VAR_041796 VAR_041796 disease not phenotype-associated VAR_041797 commonName VAR_041797 VAR_041797 disease not phenotype-associated VAR_041798 commonName VAR_041798 VAR_041798 disease not phenotype-associated VAR_041799 commonName VAR_041799 VAR_041799 disease not phenotype-associated VAR_041803 commonName VAR_041803 VAR_041803 disease not phenotype-associated VAR_041804 commonName VAR_041804 VAR_041804 disease not phenotype-associated VAR_041805 commonName VAR_041805 VAR_041805 disease not phenotype-associated VAR_041806 commonName VAR_041806 VAR_041806 disease not phenotype-associated VAR_041807 commonName VAR_041807 VAR_041807 disease not phenotype-associated VAR_041808 commonName VAR_041808 VAR_041808 disease not phenotype-associated VAR_041809 commonName VAR_041809 VAR_041809 disease not phenotype-associated VAR_041810 commonName VAR_041810 VAR_041810 disease not phenotype-associated VAR_041811 commonName VAR_041811 VAR_041811 disease not phenotype-associated VAR_041812 commonName VAR_041812 VAR_041812 disease not phenotype-associated VAR_041813 commonName VAR_041813 VAR_041813 disease not phenotype-associated VAR_041814 commonName VAR_041814 VAR_041814 disease not phenotype-associated VAR_041815 commonName VAR_041815 VAR_041815 disease not phenotype-associated VAR_041816 commonName VAR_041816 VAR_041816 disease not phenotype-associated VAR_041817 commonName VAR_041817 VAR_041817 disease not phenotype-associated VAR_041818 commonName VAR_041818 VAR_041818 disease not phenotype-associated VAR_041819 commonName VAR_041819 VAR_041819 disease not phenotype-associated VAR_041820 comment A bladder carcinoma NOS sample VAR_041820 commonName VAR_041820 VAR_041821 commonName VAR_041821 VAR_041821 disease not phenotype-associated VAR_041822 commonName VAR_041822 VAR_041822 disease not phenotype-associated VAR_041823 comment A metastatic melanoma sample VAR_041823 commonName VAR_041823 VAR_041824 commonName VAR_041824 VAR_041824 disease not phenotype-associated VAR_041825 commonName VAR_041825 VAR_041825 disease not phenotype-associated VAR_041830 commonName VAR_041830 VAR_041830 disease not phenotype-associated VAR_041831 commonName VAR_041831 VAR_041831 disease not phenotype-associated VAR_041832 commonName VAR_041832 VAR_041832 disease not phenotype-associated VAR_041833 commonName VAR_041833 VAR_041833 disease not phenotype-associated VAR_041834 commonName VAR_041834 VAR_041834 disease not phenotype-associated VAR_041835 commonName VAR_041835 VAR_041835 disease not phenotype-associated VAR_041836 commonName VAR_041836 VAR_041836 disease not phenotype-associated VAR_041837 commonName VAR_041837 VAR_041837 disease not phenotype-associated VAR_041838 commonName VAR_041838 VAR_041838 disease not phenotype-associated VAR_041839 commonName VAR_041839 VAR_041839 disease not phenotype-associated VAR_041840 commonName VAR_041840 VAR_041840 disease not phenotype-associated VAR_041841 commonName VAR_041841 VAR_041841 disease not phenotype-associated VAR_041842 commonName VAR_041842 VAR_041842 disease not phenotype-associated VAR_041843 commonName VAR_041843 VAR_041843 disease not phenotype-associated VAR_041844 comment A glioblastoma multiforme sample VAR_041844 commonName VAR_041844 VAR_041845 commonName VAR_041845 VAR_041845 disease not phenotype-associated VAR_041846 commonName VAR_041846 VAR_041846 disease not phenotype-associated VAR_041847 commonName VAR_041847 VAR_041847 disease not phenotype-associated VAR_041850 commonName VAR_041850 VAR_041850 disease not phenotype-associated VAR_041851 comment A lung adenocarcinoma sample VAR_041851 commonName VAR_041851 VAR_041852 commonName VAR_041852 VAR_041852 disease not phenotype-associated VAR_041855 commonName VAR_041855 VAR_041855 disease not phenotype-associated VAR_041856 commonName VAR_041856 VAR_041856 disease not phenotype-associated VAR_041857 commonName VAR_041857 VAR_041857 disease not phenotype-associated VAR_041858 commonName VAR_041858 VAR_041858 disease not phenotype-associated VAR_041859 commonName VAR_041859 VAR_041859 disease not phenotype-associated VAR_041860 commonName VAR_041860 VAR_041860 disease not phenotype-associated VAR_041863 commonName VAR_041863 VAR_041863 disease not phenotype-associated VAR_041864 comment A lung adenocarcinoma sample VAR_041864 commonName VAR_041864 VAR_041865 commonName VAR_041865 VAR_041865 disease not phenotype-associated VAR_041866 commonName VAR_041866 VAR_041866 disease not phenotype-associated VAR_041867 commonName VAR_041867 VAR_041867 disease not phenotype-associated VAR_041868 commonName VAR_041868 VAR_041868 disease not phenotype-associated VAR_041869 commonName VAR_041869 VAR_041869 disease not phenotype-associated VAR_041870 commonName VAR_041870 VAR_041870 disease not phenotype-associated VAR_041871 commonName VAR_041871 VAR_041871 disease not phenotype-associated VAR_041872 comment A colorectal adenocarcinoma sample VAR_041872 commonName VAR_041872 VAR_041873 commonName VAR_041873 VAR_041873 disease not phenotype-associated VAR_041876 commonName VAR_041876 VAR_041876 disease not phenotype-associated VAR_041877 comment A gastric adenocarcinoma sample VAR_041877 commonName VAR_041877 VAR_041878 commonName VAR_041878 VAR_041878 disease not phenotype-associated VAR_041879 commonName VAR_041879 VAR_041879 disease not phenotype-associated VAR_041880 commonName VAR_041880 VAR_041880 disease not phenotype-associated VAR_041881 commonName VAR_041881 VAR_041881 disease not phenotype-associated VAR_041882 commonName VAR_041882 VAR_041882 disease not phenotype-associated VAR_041883 comment A bladder transitional cell carcinoma sample VAR_041883 commonName VAR_041883 VAR_041884 commonName VAR_041884 VAR_041884 disease not phenotype-associated VAR_041885 commonName VAR_041885 VAR_041885 disease not phenotype-associated VAR_041898 commonName VAR_041898 VAR_041898 disease not phenotype-associated VAR_041899 commonName VAR_041899 VAR_041899 disease not phenotype-associated VAR_041900 commonName VAR_041900 VAR_041900 disease not phenotype-associated VAR_041901 commonName VAR_041901 VAR_041901 disease not phenotype-associated VAR_041902 comment A metastatic melanoma sample VAR_041902 commonName VAR_041902 VAR_041903 commonName VAR_041903 VAR_041903 disease not phenotype-associated VAR_041913 comment A renal clear cell carcinoma sample VAR_041913 commonName VAR_041913 VAR_041914 comment A gastric adenocarcinoma sample VAR_041914 commonName VAR_041914 VAR_041915 commonName VAR_041915 VAR_041915 disease not phenotype-associated VAR_041916 commonName VAR_041916 VAR_041916 disease not phenotype-associated VAR_041917 commonName VAR_041917 VAR_041917 disease not phenotype-associated VAR_041918 commonName VAR_041918 VAR_041918 disease not phenotype-associated VAR_041919 commonName VAR_041919 VAR_041919 disease not phenotype-associated VAR_041920 commonName VAR_041920 VAR_041920 disease not phenotype-associated VAR_041921 commonName VAR_041921 VAR_041921 disease not phenotype-associated VAR_041922 commonName VAR_041922 VAR_041922 disease not phenotype-associated VAR_041923 commonName VAR_041923 VAR_041923 disease not phenotype-associated VAR_041924 commonName VAR_041924 VAR_041924 disease not phenotype-associated VAR_041925 commonName VAR_041925 VAR_041925 disease not phenotype-associated VAR_041926 comment A gastric adenocarcinoma sample VAR_041926 commonName VAR_041926 VAR_041927 comment A lung neuroendocrine carcinoma sample VAR_041927 commonName VAR_041927 VAR_041928 commonName VAR_041928 VAR_041928 disease not phenotype-associated VAR_041929 commonName VAR_041929 VAR_041929 disease not phenotype-associated VAR_041930 commonName VAR_041930 VAR_041930 disease not phenotype-associated VAR_041931 comment A colorectal adenocarcinoma sample VAR_041931 commonName VAR_041931 VAR_041932 comment A metastatic melanoma sample VAR_041932 commonName VAR_041932 VAR_041933 comment A lung bronchoalveolar carcinoma sample VAR_041933 commonName VAR_041933 VAR_041934 comment A lung small cell carcinoma sample VAR_041934 commonName VAR_041934 VAR_041935 commonName VAR_041935 VAR_041935 disease not phenotype-associated VAR_041936 commonName VAR_041936 VAR_041936 disease not phenotype-associated VAR_041937 commonName VAR_041937 VAR_041937 disease not phenotype-associated VAR_041938 commonName VAR_041938 VAR_041938 disease not phenotype-associated VAR_041939 commonName VAR_041939 VAR_041939 disease not phenotype-associated VAR_041940 comment A lung adenocarcinoma sample VAR_041940 commonName VAR_041940 VAR_041941 comment A lung adenocarcinoma sample VAR_041941 commonName VAR_041941 VAR_041942 comment A lung adenocarcinoma sample VAR_041942 commonName VAR_041942 VAR_041943 commonName VAR_041943 VAR_041943 disease not phenotype-associated VAR_041944 commonName VAR_041944 VAR_041944 disease not phenotype-associated VAR_041945 commonName VAR_041945 VAR_041945 disease not phenotype-associated VAR_041946 commonName VAR_041946 VAR_041946 disease not phenotype-associated VAR_041947 commonName VAR_041947 VAR_041947 disease not phenotype-associated VAR_041948 commonName VAR_041948 VAR_041948 disease not phenotype-associated VAR_041949 commonName VAR_041949 VAR_041949 disease not phenotype-associated VAR_041950 commonName VAR_041950 VAR_041950 disease not phenotype-associated VAR_041951 commonName VAR_041951 VAR_041951 disease not phenotype-associated VAR_041952 comment A glioblastoma multiforme sample VAR_041952 commonName VAR_041952 VAR_041953 commonName VAR_041953 VAR_041953 disease not phenotype-associated VAR_041954 commonName VAR_041954 VAR_041954 disease not phenotype-associated VAR_041955 comment A lung adenocarcinoma sample VAR_041955 commonName VAR_041955 VAR_041956 comment A lung large cell carcinoma sample VAR_041956 commonName VAR_041956 VAR_041957 commonName VAR_041957 VAR_041957 disease not phenotype-associated VAR_041958 commonName VAR_041958 VAR_041958 disease not phenotype-associated VAR_041959 commonName VAR_041959 VAR_041959 disease not phenotype-associated VAR_041960 commonName VAR_041960 VAR_041960 disease not phenotype-associated VAR_041965 commonName VAR_041965 VAR_041965 disease not phenotype-associated VAR_041966 commonName VAR_041966 VAR_041966 disease not phenotype-associated VAR_041967 commonName VAR_041967 VAR_041967 disease not phenotype-associated VAR_041968 commonName VAR_041968 VAR_041968 disease not phenotype-associated VAR_041969 comment A colorectal adenocarcinoma sample VAR_041969 commonName VAR_041969 VAR_041970 commonName VAR_041970 VAR_041970 disease not phenotype-associated VAR_041972 comment A glioblastoma multiforme sample VAR_041972 commonName VAR_041972 VAR_041973 comment A glioblastoma multiforme sample VAR_041973 commonName VAR_041973 VAR_041974 commonName VAR_041974 VAR_041974 disease not phenotype-associated VAR_041975 commonName VAR_041975 VAR_041975 disease not phenotype-associated VAR_041976 commonName VAR_041976 VAR_041976 disease not phenotype-associated VAR_041977 commonName VAR_041977 VAR_041977 disease not phenotype-associated VAR_041978 commonName VAR_041978 VAR_041978 disease not phenotype-associated VAR_041979 comment A metastatic melanoma sample VAR_041979 commonName VAR_041979 VAR_041980 comment A lung neuroendocrine carcinoma sample VAR_041980 commonName VAR_041980 VAR_041982 commonName VAR_041982 VAR_041982 disease not phenotype-associated VAR_041983 commonName VAR_041983 VAR_041983 disease not phenotype-associated VAR_041984 commonName VAR_041984 VAR_041984 disease not phenotype-associated VAR_041987 comment An ovarian papillary serous adenocarcinoma sample VAR_041987 commonName VAR_041987 VAR_041988 comment An ovarian mucinous carcinoma sample VAR_041988 commonName VAR_041988 VAR_041989 commonName VAR_041989 VAR_041989 disease not phenotype-associated VAR_041990 commonName VAR_041990 VAR_041990 disease not phenotype-associated VAR_041991 commonName VAR_041991 VAR_041991 disease not phenotype-associated VAR_041992 commonName VAR_041992 VAR_041992 disease not phenotype-associated VAR_041993 commonName VAR_041993 VAR_041993 disease not phenotype-associated VAR_041994 commonName VAR_041994 VAR_041994 disease not phenotype-associated VAR_041995 commonName VAR_041995 VAR_041995 disease not phenotype-associated VAR_041996 commonName VAR_041996 VAR_041996 disease not phenotype-associated VAR_041997 comment A metastatic melanoma sample VAR_041997 commonName VAR_041997 VAR_041998 comment An ovarian serous carcinoma sample VAR_041998 commonName VAR_041998 VAR_041999 commonName VAR_041999 VAR_041999 disease not phenotype-associated VAR_042001 comment A renal clear cell carcinoma sample VAR_042001 commonName VAR_042001 VAR_042002 commonName VAR_042002 VAR_042002 disease not phenotype-associated VAR_042003 commonName VAR_042003 VAR_042003 disease not phenotype-associated VAR_042004 commonName VAR_042004 VAR_042004 disease not phenotype-associated VAR_042005 commonName VAR_042005 VAR_042005 disease not phenotype-associated VAR_042006 commonName VAR_042006 VAR_042006 disease not phenotype-associated VAR_042007 comment A breast infiltrating ductal carcinoma sample VAR_042007 commonName VAR_042007 VAR_042008 commonName VAR_042008 VAR_042008 disease not phenotype-associated VAR_042009 commonName VAR_042009 VAR_042009 disease not phenotype-associated VAR_042010 commonName VAR_042010 VAR_042010 disease not phenotype-associated VAR_042011 commonName VAR_042011 VAR_042011 disease not phenotype-associated VAR_042012 commonName VAR_042012 VAR_042012 disease not phenotype-associated VAR_042013 commonName VAR_042013 VAR_042013 disease not phenotype-associated VAR_042016 commonName VAR_042016 VAR_042016 disease not phenotype-associated VAR_042017 comment A renal clear cell carcinoma sample VAR_042017 commonName VAR_042017 VAR_042018 commonName VAR_042018 VAR_042018 disease not phenotype-associated VAR_042021 commonName VAR_042021 VAR_042021 disease not phenotype-associated VAR_042022 commonName VAR_042022 VAR_042022 disease not phenotype-associated VAR_042023 commonName VAR_042023 VAR_042023 disease not phenotype-associated VAR_042024 commonName VAR_042024 VAR_042024 disease not phenotype-associated VAR_042025 comment A colorectal adenocarcinoma sample VAR_042025 commonName VAR_042025 VAR_042026 comment A colorectal adenocarcinoma sample VAR_042026 commonName VAR_042026 VAR_042027 commonName VAR_042027 VAR_042027 disease not phenotype-associated VAR_042028 commonName VAR_042028 VAR_042028 disease not phenotype-associated VAR_042029 comment A gastric adenocarcinoma sample VAR_042029 commonName VAR_042029 VAR_042030 commonName VAR_042030 VAR_042030 disease not phenotype-associated VAR_042031 comment A breast infiltrating ductal carcinoma sample VAR_042031 commonName VAR_042031 VAR_042032 commonName VAR_042032 VAR_042032 disease not phenotype-associated VAR_042033 commonName VAR_042033 VAR_042033 disease not phenotype-associated VAR_042038 commonName VAR_042038 VAR_042038 disease not phenotype-associated VAR_042039 commonName VAR_042039 VAR_042039 disease not phenotype-associated VAR_042040 commonName VAR_042040 VAR_042040 disease not phenotype-associated VAR_042041 commonName VAR_042041 VAR_042041 disease not phenotype-associated VAR_042042 comment A lung squamous cell carcinoma sample VAR_042042 commonName VAR_042042 VAR_042043 commonName VAR_042043 VAR_042043 disease not phenotype-associated VAR_042044 commonName VAR_042044 VAR_042044 disease not phenotype-associated VAR_042045 commonName VAR_042045 VAR_042045 disease not phenotype-associated VAR_042046 commonName VAR_042046 VAR_042046 disease not phenotype-associated VAR_042047 commonName VAR_042047 VAR_042047 disease not phenotype-associated VAR_042048 comment A lung adenocarcinoma sample VAR_042048 commonName VAR_042048 VAR_042049 comment A glioma low grade oligodendroglioma sample VAR_042049 commonName VAR_042049 VAR_042050 commonName VAR_042050 VAR_042050 disease not phenotype-associated VAR_042051 commonName VAR_042051 VAR_042051 disease not phenotype-associated VAR_042052 comment A bladder transitional cell carcinoma sample VAR_042052 commonName VAR_042052 VAR_042053 comment A lung adenocarcinoma sample VAR_042053 commonName VAR_042053 VAR_042054 commonName VAR_042054 VAR_042054 disease not phenotype-associated VAR_042055 comment A renal clear cell carcinoma sample VAR_042055 commonName VAR_042055 VAR_042056 commonName VAR_042056 VAR_042056 disease not phenotype-associated VAR_042057 commonName VAR_042057 VAR_042057 disease not phenotype-associated VAR_042058 commonName VAR_042058 VAR_042058 disease not phenotype-associated VAR_042059 commonName VAR_042059 VAR_042059 disease not phenotype-associated VAR_042060 commonName VAR_042060 VAR_042060 disease not phenotype-associated VAR_042061 commonName VAR_042061 VAR_042061 disease not phenotype-associated VAR_042062 commonName VAR_042062 VAR_042062 disease not phenotype-associated VAR_042063 comment A renal clear cell carcinoma sample VAR_042063 commonName VAR_042063 VAR_042064 commonName VAR_042064 VAR_042064 disease not phenotype-associated VAR_042065 comment A metastatic melanoma sample VAR_042065 commonName VAR_042065 VAR_042066 commonName VAR_042066 VAR_042066 disease not phenotype-associated VAR_042067 commonName VAR_042067 VAR_042067 disease not phenotype-associated VAR_042068 commonName VAR_042068 VAR_042068 disease not phenotype-associated VAR_042069 commonName VAR_042069 VAR_042069 disease not phenotype-associated VAR_042070 commonName VAR_042070 VAR_042070 disease not phenotype-associated VAR_042071 commonName VAR_042071 VAR_042071 disease not phenotype-associated VAR_042072 commonName VAR_042072 VAR_042072 disease not phenotype-associated VAR_042073 comment A breast pleomorphic lobular carcinoma sample VAR_042073 commonName VAR_042073 VAR_042074 commonName VAR_042074 VAR_042074 disease not phenotype-associated VAR_042075 commonName VAR_042075 VAR_042075 disease not phenotype-associated VAR_042076 commonName VAR_042076 VAR_042076 disease not phenotype-associated VAR_042077 commonName VAR_042077 VAR_042077 disease not phenotype-associated VAR_042078 commonName VAR_042078 VAR_042078 disease not phenotype-associated VAR_042079 commonName VAR_042079 VAR_042079 disease not phenotype-associated VAR_042080 commonName VAR_042080 VAR_042080 disease not phenotype-associated VAR_042081 commonName VAR_042081 VAR_042081 disease not phenotype-associated VAR_042082 comment A lung adenocarcinoma sample VAR_042082 commonName VAR_042082 VAR_042083 commonName VAR_042083 VAR_042083 disease not phenotype-associated VAR_042084 commonName VAR_042084 VAR_042084 disease not phenotype-associated VAR_042085 commonName VAR_042085 VAR_042085 disease not phenotype-associated VAR_042086 commonName VAR_042086 VAR_042086 disease not phenotype-associated VAR_042087 commonName VAR_042087 VAR_042087 disease not phenotype-associated VAR_042088 commonName VAR_042088 VAR_042088 disease not phenotype-associated VAR_042089 commonName VAR_042089 VAR_042089 disease not phenotype-associated VAR_042090 commonName VAR_042090 VAR_042090 disease not phenotype-associated VAR_042091 commonName VAR_042091 VAR_042091 disease not phenotype-associated VAR_042092 commonName VAR_042092 VAR_042092 disease not phenotype-associated VAR_042093 commonName VAR_042093 VAR_042093 disease not phenotype-associated VAR_042094 commonName VAR_042094 VAR_042094 disease not phenotype-associated VAR_042095 commonName VAR_042095 VAR_042095 disease not phenotype-associated VAR_042097 commonName VAR_042097 VAR_042097 disease not phenotype-associated VAR_042098 comment A gastric adenocarcinoma sample VAR_042098 commonName VAR_042098 VAR_042099 comment An ovarian cancer sample VAR_042099 commonName VAR_042099 VAR_042101 commonName VAR_042101 VAR_042101 disease not phenotype-associated VAR_042102 commonName VAR_042102 VAR_042102 disease not phenotype-associated VAR_042103 comment An ovarian mucinous carcinoma sample VAR_042103 commonName VAR_042103 VAR_042104 commonName VAR_042104 VAR_042104 disease not phenotype-associated VAR_042105 commonName VAR_042105 VAR_042105 disease not phenotype-associated VAR_042113 comment A colorectal adenocarcinoma sample VAR_042113 commonName VAR_042113 VAR_042114 comment A lung squamous cell carcinoma sample VAR_042114 commonName VAR_042114 VAR_042115 commonName VAR_042115 VAR_042115 disease not phenotype-associated VAR_042116 commonName VAR_042116 VAR_042116 disease not phenotype-associated VAR_042117 commonName VAR_042117 VAR_042117 disease not phenotype-associated VAR_042118 commonName VAR_042118 VAR_042118 disease not phenotype-associated VAR_042119 comment A breast pleomorphic lobular carcinoma sample VAR_042119 commonName VAR_042119 VAR_042120 commonName VAR_042120 VAR_042120 disease not phenotype-associated VAR_042121 commonName VAR_042121 VAR_042121 disease not phenotype-associated VAR_042122 commonName VAR_042122 VAR_042122 disease not phenotype-associated VAR_042123 commonName VAR_042123 VAR_042123 disease not phenotype-associated VAR_042124 comment A gastric adenocarcinoma sample VAR_042124 commonName VAR_042124 VAR_042125 commonName VAR_042125 VAR_042125 disease not phenotype-associated VAR_042126 comment A lung large cell carcinoma sample VAR_042126 commonName VAR_042126 VAR_042127 comment A lung neuroendocrine carcinoma sample VAR_042127 commonName VAR_042127 VAR_042128 comment A lung squamous cell carcinoma sample VAR_042128 commonName VAR_042128 VAR_042129 commonName VAR_042129 VAR_042129 disease not phenotype-associated VAR_042130 commonName VAR_042130 VAR_042130 disease not phenotype-associated VAR_042131 commonName VAR_042131 VAR_042131 disease not phenotype-associated VAR_042132 comment A lung adenocarcinoma sample VAR_042132 commonName VAR_042132 VAR_042133 commonName VAR_042133 VAR_042133 disease not phenotype-associated VAR_042134 commonName VAR_042134 VAR_042134 disease not phenotype-associated VAR_042135 commonName VAR_042135 VAR_042135 disease not phenotype-associated VAR_042136 comment A bladder carcinoma NOS sample VAR_042136 commonName VAR_042136 VAR_042137 comment A metastatic melanoma sample VAR_042137 commonName VAR_042137 VAR_042138 commonName VAR_042138 VAR_042138 disease not phenotype-associated VAR_042139 commonName VAR_042139 VAR_042139 disease not phenotype-associated VAR_042140 commonName VAR_042140 VAR_042140 disease not phenotype-associated VAR_042141 comment A lung adenocarcinoma sample VAR_042141 commonName VAR_042141 VAR_042142 comment A lung large cell carcinoma sample VAR_042142 commonName VAR_042142 VAR_042143 comment A lung adenocarcinoma sample VAR_042143 commonName VAR_042143 VAR_042144 commonName VAR_042144 VAR_042144 disease not phenotype-associated VAR_042145 commonName VAR_042145 VAR_042145 disease not phenotype-associated VAR_042146 comment A lung squamous cell carcinoma sample VAR_042146 commonName VAR_042146 VAR_042147 commonName VAR_042147 VAR_042147 disease not phenotype-associated VAR_042148 comment A lung large cell carcinoma sample VAR_042148 commonName VAR_042148 VAR_042149 commonName VAR_042149 VAR_042149 disease not phenotype-associated VAR_042150 comment A colorectal adenocarcinoma sample VAR_042150 commonName VAR_042150 VAR_042151 comment A metastatic melanoma sample VAR_042151 commonName VAR_042151 VAR_042152 comment A metastatic melanoma sample VAR_042152 commonName VAR_042152 VAR_042153 commonName VAR_042153 VAR_042153 disease not phenotype-associated VAR_042154 commonName VAR_042154 VAR_042154 disease not phenotype-associated VAR_042155 comment A breast infiltrating ductal carcinoma sample VAR_042155 commonName VAR_042155 VAR_042156 comment A gastric adenocarcinoma sample VAR_042156 commonName VAR_042156 VAR_042157 comment A lung adenocarcinoma sample VAR_042157 commonName VAR_042157 VAR_042158 comment A metastatic melanoma sample VAR_042158 commonName VAR_042158 VAR_042159 comment A gastric adenocarcinoma sample VAR_042159 commonName VAR_042159 VAR_042160 commonName VAR_042160 VAR_042160 disease not phenotype-associated VAR_042161 commonName VAR_042161 VAR_042161 disease not phenotype-associated VAR_042162 commonName VAR_042162 VAR_042162 disease not phenotype-associated VAR_042163 comment A breast infiltrating ductal carcinoma sample VAR_042163 commonName VAR_042163 VAR_042164 commonName VAR_042164 VAR_042164 disease not phenotype-associated VAR_042165 commonName VAR_042165 VAR_042165 disease not phenotype-associated VAR_042166 commonName VAR_042166 VAR_042166 disease not phenotype-associated VAR_042172 commonName VAR_042172 VAR_042172 disease not phenotype-associated VAR_042173 commonName VAR_042173 VAR_042173 disease not phenotype-associated VAR_042174 commonName VAR_042174 VAR_042174 disease not phenotype-associated VAR_042175 commonName VAR_042175 VAR_042175 disease not phenotype-associated VAR_042176 comment A lung small cell carcinoma sample VAR_042176 commonName VAR_042176 VAR_042177 commonName VAR_042177 VAR_042177 disease not phenotype-associated VAR_042178 commonName VAR_042178 VAR_042178 disease not phenotype-associated VAR_042179 commonName VAR_042179 VAR_042179 disease not phenotype-associated VAR_042180 comment A lung neuroendocrine carcinoma sample VAR_042180 commonName VAR_042180 VAR_042181 commonName VAR_042181 VAR_042181 disease not phenotype-associated VAR_042182 commonName VAR_042182 VAR_042182 disease not phenotype-associated VAR_042183 comment A metastatic melanoma sample VAR_042183 commonName VAR_042183 VAR_042184 commonName VAR_042184 VAR_042184 disease not phenotype-associated VAR_042185 commonName VAR_042185 VAR_042185 disease not phenotype-associated VAR_042186 commonName VAR_042186 VAR_042186 disease not phenotype-associated VAR_042187 commonName VAR_042187 VAR_042187 disease not phenotype-associated VAR_042188 comment A gastric adenocarcinoma sample VAR_042188 commonName VAR_042188 VAR_042189 commonName VAR_042189 VAR_042189 disease not phenotype-associated VAR_042190 commonName VAR_042190 VAR_042190 disease not phenotype-associated VAR_042191 commonName VAR_042191 VAR_042191 disease not phenotype-associated VAR_042192 commonName VAR_042192 VAR_042192 disease not phenotype-associated VAR_042193 commonName VAR_042193 VAR_042193 disease not phenotype-associated VAR_042194 commonName VAR_042194 VAR_042194 disease not phenotype-associated VAR_042195 commonName VAR_042195 VAR_042195 disease not phenotype-associated VAR_042201 comment A breast infiltrating ductal carcinoma sample VAR_042201 commonName VAR_042201 VAR_042202 comment A lung bronchoalveolar carcinoma sample VAR_042202 commonName VAR_042202 VAR_042203 comment A lung large cell carcinoma sample VAR_042203 commonName VAR_042203 VAR_042204 commonName VAR_042204 VAR_042204 disease not phenotype-associated VAR_042205 comment An ovarian serous carcinoma sample VAR_042205 commonName VAR_042205 VAR_042206 comment A lung squamous cell carcinoma sample VAR_042206 commonName VAR_042206 VAR_042207 comment A lung adenocarcinoma sample VAR_042207 commonName VAR_042207 VAR_042208 comment A colorectal adenocarcinoma sample VAR_042208 commonName VAR_042208 VAR_042209 commonName VAR_042209 VAR_042209 disease not phenotype-associated VAR_042210 commonName VAR_042210 VAR_042210 disease not phenotype-associated VAR_042211 commonName VAR_042211 VAR_042211 disease not phenotype-associated VAR_042212 commonName VAR_042212 VAR_042212 disease not phenotype-associated VAR_042213 commonName VAR_042213 VAR_042213 disease not phenotype-associated VAR_042214 commonName VAR_042214 VAR_042214 disease not phenotype-associated VAR_042215 comment A breast pleomorphic lobular carcinoma sample VAR_042215 commonName VAR_042215 VAR_042216 commonName VAR_042216 VAR_042216 disease not phenotype-associated VAR_042219 commonName VAR_042219 VAR_042219 disease not phenotype-associated VAR_042220 commonName VAR_042220 VAR_042220 disease not phenotype-associated VAR_042221 commonName VAR_042221 VAR_042221 disease not phenotype-associated VAR_042222 comment A metastatic melanoma sample VAR_042222 commonName VAR_042222 VAR_042223 commonName VAR_042223 VAR_042223 disease not phenotype-associated VAR_042224 commonName VAR_042224 VAR_042224 disease not phenotype-associated VAR_042225 commonName VAR_042225 VAR_042225 disease not phenotype-associated VAR_042226 commonName VAR_042226 VAR_042226 disease not phenotype-associated VAR_042227 commonName VAR_042227 VAR_042227 disease not phenotype-associated VAR_042228 commonName VAR_042228 VAR_042228 disease not phenotype-associated VAR_042229 commonName VAR_042229 VAR_042229 disease not phenotype-associated VAR_042230 comment A metastatic melanoma sample VAR_042230 commonName VAR_042230 VAR_042231 commonName VAR_042231 VAR_042231 disease not phenotype-associated VAR_042232 commonName VAR_042232 VAR_042232 disease not phenotype-associated VAR_042233 commonName VAR_042233 VAR_042233 disease not phenotype-associated VAR_042234 commonName VAR_042234 VAR_042234 disease not phenotype-associated VAR_042235 commonName VAR_042235 VAR_042235 disease not phenotype-associated VAR_042236 commonName VAR_042236 VAR_042236 disease not phenotype-associated VAR_042237 commonName VAR_042237 VAR_042237 disease not phenotype-associated VAR_042238 comment A glioblastoma multiforme sample VAR_042238 commonName VAR_042238 VAR_042239 commonName VAR_042239 VAR_042239 disease not phenotype-associated VAR_042240 commonName VAR_042240 VAR_042240 disease not phenotype-associated VAR_042241 commonName VAR_042241 VAR_042241 disease not phenotype-associated VAR_042242 comment A lung adenocarcinoma sample VAR_042242 commonName VAR_042242 VAR_042243 comment A lung squamous cell carcinoma sample VAR_042243 commonName VAR_042243 VAR_042244 comment A glioblastoma multiforme sample VAR_042244 commonName VAR_042244 VAR_042245 commonName VAR_042245 VAR_042245 disease not phenotype-associated VAR_042246 commonName VAR_042246 VAR_042246 disease not phenotype-associated VAR_042247 commonName VAR_042247 VAR_042247 disease not phenotype-associated VAR_042248 commonName VAR_042248 VAR_042248 disease not phenotype-associated VAR_042249 commonName VAR_042249 VAR_042249 disease not phenotype-associated VAR_042250 commonName VAR_042250 VAR_042250 disease not phenotype-associated VAR_042251 commonName VAR_042251 VAR_042251 disease not phenotype-associated VAR_042252 commonName VAR_042252 VAR_042252 disease not phenotype-associated VAR_042254 commonName VAR_042254 VAR_042254 disease not phenotype-associated VAR_042255 commonName VAR_042255 VAR_042255 disease not phenotype-associated VAR_042256 commonName VAR_042256 VAR_042256 disease not phenotype-associated VAR_042257 commonName VAR_042257 VAR_042257 disease not phenotype-associated VAR_042258 comment A renal clear cell carcinoma sample VAR_042258 commonName VAR_042258 VAR_042259 comment A glioblastoma multiforme sample VAR_042259 commonName VAR_042259 VAR_042260 comment A colorectal adenocarcinoma sample VAR_042260 commonName VAR_042260 VAR_042261 comment A head & Neck squamous cell carcinoma sample VAR_042261 commonName VAR_042261 VAR_042262 commonName VAR_042262 VAR_042262 disease not phenotype-associated VAR_042263 commonName VAR_042263 VAR_042263 disease not phenotype-associated VAR_042264 comment A lung neuroendocrine carcinoma sample VAR_042264 commonName VAR_042264 VAR_042265 commonName VAR_042265 VAR_042265 disease not phenotype-associated VAR_042266 commonName VAR_042266 VAR_042266 disease not phenotype-associated VAR_042267 commonName VAR_042267 VAR_042267 disease not phenotype-associated VAR_042268 commonName VAR_042268 VAR_042268 disease not phenotype-associated VAR_042269 commonName VAR_042269 VAR_042269 disease not phenotype-associated VAR_042270 comment A gastric adenocarcinoma sample VAR_042270 commonName VAR_042270 VAR_042273 comment A glioblastoma multiforme sample VAR_042273 commonName VAR_042273 VAR_042274 commonName VAR_042274 VAR_042274 disease not phenotype-associated VAR_042275 commonName VAR_042275 VAR_042276 commonName VAR_042276 VAR_042276 disease not phenotype-associated VAR_042277 commonName VAR_042277 VAR_042277 disease not phenotype-associated VAR_042278 commonName VAR_042278 VAR_042278 disease not phenotype-associated VAR_042279 commonName VAR_042279 VAR_042279 disease not phenotype-associated VAR_042280 commonName VAR_042280 VAR_042280 disease not phenotype-associated VAR_042281 commonName VAR_042281 VAR_042281 disease not phenotype-associated VAR_042282 commonName VAR_042282 VAR_042282 disease not phenotype-associated VAR_042283 commonName VAR_042283 VAR_042283 disease not phenotype-associated VAR_042284 commonName VAR_042284 VAR_042284 disease not phenotype-associated VAR_042285 commonName VAR_042285 VAR_042285 disease not phenotype-associated VAR_042286 commonName VAR_042286 VAR_042286 disease not phenotype-associated VAR_042287 commonName VAR_042287 VAR_042287 disease not phenotype-associated VAR_042288 commonName VAR_042288 VAR_042288 disease not phenotype-associated VAR_042289 commonName VAR_042289 VAR_042289 disease not phenotype-associated VAR_042290 commonName VAR_042290 VAR_042290 disease not phenotype-associated VAR_042291 commonName VAR_042291 VAR_042291 disease not phenotype-associated VAR_042292 commonName VAR_042292 VAR_042292 disease not phenotype-associated VAR_042293 commonName VAR_042293 VAR_042293 disease not phenotype-associated VAR_042294 commonName VAR_042294 VAR_042294 disease not phenotype-associated VAR_042296 comment A glioblastoma multiforme sample VAR_042296 commonName VAR_042296 VAR_042297 comment A head & Neck squamous cell carcinoma sample VAR_042297 commonName VAR_042297 VAR_042298 commonName VAR_042298 VAR_042298 disease not phenotype-associated VAR_042299 commonName VAR_042299 VAR_042299 disease not phenotype-associated VAR_042300 commonName VAR_042300 VAR_042300 disease not phenotype-associated VAR_042301 comment A colorectal adenocarcinoma sample VAR_042301 commonName VAR_042301 VAR_042304 comment A colorectal adenocarcinoma sample VAR_042304 commonName VAR_042304 VAR_042305 comment A glioblastoma multiforme sample VAR_042305 commonName VAR_042305 VAR_042306 commonName VAR_042306 VAR_042306 disease not phenotype-associated VAR_042307 commonName VAR_042307 VAR_042307 disease not phenotype-associated VAR_042308 commonName VAR_042308 VAR_042308 disease not phenotype-associated VAR_042309 commonName VAR_042309 VAR_042309 disease not phenotype-associated VAR_042310 commonName VAR_042310 VAR_042310 disease not phenotype-associated VAR_042312 commonName VAR_042312 VAR_042312 disease not phenotype-associated VAR_042313 commonName VAR_042313 VAR_042313 disease not phenotype-associated VAR_042314 commonName VAR_042314 VAR_042314 disease not phenotype-associated VAR_042315 commonName VAR_042315 VAR_042315 disease not phenotype-associated VAR_042319 comment A colorectal adenocarcinoma sample VAR_042319 commonName VAR_042319 VAR_042320 commonName VAR_042320 VAR_042320 disease not phenotype-associated VAR_042321 commonName VAR_042321 VAR_042321 disease not phenotype-associated VAR_042322 comment A metastatic melanoma sample VAR_042322 commonName VAR_042322 VAR_042323 commonName VAR_042323 VAR_042323 disease not phenotype-associated VAR_042324 commonName VAR_042324 VAR_042324 disease not phenotype-associated VAR_042325 commonName VAR_042325 VAR_042325 disease not phenotype-associated VAR_042326 comment A metastatic melanoma sample VAR_042326 commonName VAR_042326 VAR_042327 comment A lung bronchoalveolar carcinoma sample VAR_042327 commonName VAR_042327 VAR_042328 commonName VAR_042328 VAR_042328 disease not phenotype-associated VAR_042329 commonName VAR_042329 VAR_042329 disease not phenotype-associated VAR_042330 commonName VAR_042330 VAR_042330 disease not phenotype-associated VAR_042331 commonName VAR_042331 VAR_042331 disease not phenotype-associated VAR_042332 commonName VAR_042332 VAR_042332 disease not phenotype-associated VAR_042336 comment A glioblastoma multiforme sample VAR_042336 commonName VAR_042336 VAR_042337 comment A metastatic melanoma sample VAR_042337 commonName VAR_042337 VAR_042338 commonName VAR_042338 VAR_042338 disease not phenotype-associated VAR_042339 commonName VAR_042339 VAR_042339 disease not phenotype-associated VAR_042340 commonName VAR_042340 VAR_042340 disease not phenotype-associated VAR_042341 commonName VAR_042341 VAR_042341 disease not phenotype-associated VAR_042342 commonName VAR_042342 VAR_042342 disease not phenotype-associated VAR_042343 commonName VAR_042343 VAR_042343 disease not phenotype-associated VAR_042344 comment A breast infiltrating ductal carcinoma sample VAR_042344 commonName VAR_042344 VAR_042345 comment A colorectal adenocarcinoma sample VAR_042345 commonName VAR_042345 VAR_042346 commonName VAR_042346 VAR_042346 disease not phenotype-associated VAR_042347 commonName VAR_042347 VAR_042347 disease not phenotype-associated VAR_042348 commonName VAR_042348 VAR_042348 disease not phenotype-associated VAR_042349 commonName VAR_042349 VAR_042349 disease not phenotype-associated VAR_042350 commonName VAR_042350 VAR_042350 disease not phenotype-associated VAR_042351 comment A renal clear cell carcinoma sample VAR_042351 commonName VAR_042351 VAR_042352 commonName VAR_042352 VAR_042352 disease not phenotype-associated VAR_042353 commonName VAR_042353 VAR_042353 disease not phenotype-associated VAR_042354 commonName VAR_042354 VAR_042354 disease not phenotype-associated VAR_042355 commonName VAR_042355 VAR_042355 disease not phenotype-associated VAR_042356 commonName VAR_042356 VAR_042356 disease not phenotype-associated VAR_042357 commonName VAR_042357 VAR_042357 disease not phenotype-associated VAR_042358 commonName VAR_042358 VAR_042358 disease not phenotype-associated VAR_042359 commonName VAR_042359 VAR_042359 disease not phenotype-associated VAR_042364 commonName VAR_042364 VAR_042364 disease not phenotype-associated VAR_042371 commonName VAR_042371 VAR_042371 disease not phenotype-associated VAR_042372 comment A glioblastoma multiforme sample VAR_042372 commonName VAR_042372 VAR_042373 commonName VAR_042373 VAR_042373 disease not phenotype-associated VAR_042374 commonName VAR_042374 VAR_042374 disease not phenotype-associated VAR_042375 commonName VAR_042375 VAR_042375 disease not phenotype-associated VAR_042376 comment A glioblastoma multiforme sample VAR_042376 commonName VAR_042376 VAR_042377 commonName VAR_042377 VAR_042377 disease not phenotype-associated VAR_042378 comment A lung adenocarcinoma sample VAR_042378 commonName VAR_042378 VAR_042379 comment A glioblastoma multiforme sample VAR_042379 commonName VAR_042379 VAR_042380 commonName VAR_042380 VAR_042380 disease not phenotype-associated VAR_042381 commonName VAR_042381 VAR_042381 disease not phenotype-associated VAR_042382 comment An ovarian serous carcinoma sample VAR_042382 commonName VAR_042382 VAR_042383 comment A lung squamous cell carcinoma sample VAR_042383 commonName VAR_042383 VAR_042384 commonName VAR_042384 VAR_042384 disease not phenotype-associated VAR_042385 commonName VAR_042385 VAR_042385 disease not phenotype-associated VAR_042387 comment A lung adenocarcinoma sample VAR_042387 commonName VAR_042387 VAR_042388 commonName VAR_042388 VAR_042388 disease not phenotype-associated VAR_042389 comment A lung large cell carcinoma sample VAR_042389 commonName VAR_042389 VAR_042390 commonName VAR_042390 VAR_042390 disease not phenotype-associated VAR_042391 commonName VAR_042391 VAR_042391 disease not phenotype-associated VAR_042392 commonName VAR_042392 VAR_042392 disease not phenotype-associated VAR_042393 commonName VAR_042393 VAR_042393 disease not phenotype-associated VAR_042394 commonName VAR_042394 VAR_042394 disease not phenotype-associated VAR_042395 commonName VAR_042395 VAR_042395 disease not phenotype-associated VAR_042396 comment An ovarian serous carcinoma sample VAR_042396 commonName VAR_042396 VAR_042397 commonName VAR_042397 VAR_042397 disease not phenotype-associated VAR_042398 commonName VAR_042398 VAR_042398 disease not phenotype-associated VAR_042399 comment A breast infiltrating ductal carcinoma sample VAR_042399 commonName VAR_042399 VAR_042400 comment A gastric adenocarcinoma sample VAR_042400 commonName VAR_042400 VAR_042401 commonName VAR_042401 VAR_042401 disease not phenotype-associated VAR_042402 commonName VAR_042402 VAR_042402 disease not phenotype-associated VAR_042403 commonName VAR_042403 VAR_042403 disease not phenotype-associated VAR_042404 commonName VAR_042404 VAR_042404 disease not phenotype-associated VAR_042405 commonName VAR_042405 VAR_042405 disease not phenotype-associated VAR_042406 commonName VAR_042406 VAR_042406 disease not phenotype-associated VAR_042407 commonName VAR_042407 VAR_042407 disease not phenotype-associated VAR_042408 commonName VAR_042408 VAR_042408 disease not phenotype-associated VAR_042409 comment A lung neuroendocrine carcinoma sample VAR_042409 commonName VAR_042409 VAR_042410 commonName VAR_042410 VAR_042410 disease not phenotype-associated VAR_042411 commonName VAR_042411 VAR_042411 disease not phenotype-associated VAR_042412 commonName VAR_042412 VAR_042412 disease not phenotype-associated VAR_042413 commonName VAR_042413 VAR_042413 disease not phenotype-associated VAR_042414 commonName VAR_042414 VAR_042414 disease not phenotype-associated VAR_042415 commonName VAR_042415 VAR_042415 disease phenotype-associated VAR_042415 phenoCommon Carboxypeptidase N deficiency (CPND) [MIM:212070] VAR_042416 commonName VAR_042416 VAR_042416 disease phenotype-associated VAR_042416 phenoCommon Visceral heterotaxy X-linked type 1 (HTX1) [MIM:306955] VAR_042417 commonName VAR_042417 VAR_042417 disease phenotype-associated VAR_042417 phenoCommon Arterial tortuosity syndrome (ATS) [MIM:208050] VAR_042418 commonName VAR_042418 VAR_042418 disease phenotype-associated VAR_042418 phenoCommon Arterial tortuosity syndrome (ATS) [MIM:208050] VAR_042419 commonName VAR_042419 VAR_042419 disease not phenotype-associated VAR_042420 commonName VAR_042420 VAR_042420 disease phenotype-associated VAR_042420 phenoCommon Arterial tortuosity syndrome (ATS) [MIM:208050] VAR_042421 commonName VAR_042421 VAR_042421 disease phenotype-associated VAR_042421 phenoCommon Arterial tortuosity syndrome (ATS) [MIM:208050] VAR_042422 commonName VAR_042422 VAR_042422 disease phenotype-associated VAR_042422 phenoCommon Arterial tortuosity syndrome (ATS) [MIM:208050] VAR_042423 commonName VAR_042423 VAR_042423 disease phenotype-associated VAR_042423 phenoCommon Arterial tortuosity syndrome (ATS) [MIM:208050] VAR_042424 commonName VAR_042424 VAR_042424 disease phenotype-associated VAR_042424 phenoCommon Arterial tortuosity syndrome (ATS) [MIM:208050] VAR_042425 commonName VAR_042425 VAR_042425 disease not phenotype-associated VAR_042426 commonName VAR_042426 VAR_042426 disease not phenotype-associated VAR_042427 commonName VAR_042427 VAR_042427 disease not phenotype-associated VAR_042428 commonName VAR_042428 VAR_042428 disease not phenotype-associated VAR_042429 commonName VAR_042429 VAR_042429 disease not phenotype-associated VAR_042431 commonName VAR_042431 VAR_042431 disease not phenotype-associated VAR_042432 commonName VAR_042432 VAR_042432 disease not phenotype-associated VAR_042433 commonName VAR_042433 VAR_042433 disease not phenotype-associated VAR_042434 commonName VAR_042434 VAR_042434 disease not phenotype-associated VAR_042435 commonName VAR_042435 VAR_042435 disease not phenotype-associated VAR_042436 commonName VAR_042436 VAR_042436 disease not phenotype-associated VAR_042437 commonName VAR_042437 VAR_042437 disease not phenotype-associated VAR_042439 comment A colorectal cancer sample VAR_042439 commonName VAR_042439 VAR_042441 commonName VAR_042441 VAR_042441 disease phenotype-associated VAR_042441 phenoCommon Atypical Gaucher disease (AGD) [MIM:610539] VAR_042443 commonName VAR_042443 VAR_042443 disease phenotype-associated VAR_042443 phenoCommon Familial erythrocytosis type 4 (ECYT4) [MIM:611783] VAR_042444 commonName VAR_042444 VAR_042444 disease not phenotype-associated VAR_042445 commonName VAR_042445 VAR_042445 disease not phenotype-associated VAR_042446 commonName VAR_042446 VAR_042446 disease not phenotype-associated VAR_042447 commonName VAR_042447 VAR_042447 disease not phenotype-associated VAR_042448 commonName VAR_042448 VAR_042448 disease phenotype-associated VAR_042448 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419] VAR_042449 commonName VAR_042449 VAR_042449 disease phenotype-associated VAR_042449 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419] VAR_042450 commonName VAR_042450 VAR_042450 disease phenotype-associated VAR_042450 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419] VAR_042451 commonName VAR_042451 VAR_042451 disease not phenotype-associated VAR_042452 commonName VAR_042452 VAR_042452 disease phenotype-associated VAR_042452 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419] VAR_042453 commonName VAR_042453 VAR_042453 disease phenotype-associated VAR_042453 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419] VAR_042454 commonName VAR_042454 VAR_042454 disease phenotype-associated VAR_042454 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419] VAR_042454 phenoCommon Neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome) [MIM:181400] VAR_042455 commonName VAR_042455 VAR_042455 disease phenotype-associated VAR_042455 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419] VAR_042456 commonName VAR_042456 VAR_042456 disease phenotype-associated VAR_042456 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419] VAR_042457 commonName VAR_042457 VAR_042457 disease phenotype-associated VAR_042457 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419] VAR_042458 commonName VAR_042458 VAR_042458 disease phenotype-associated VAR_042458 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419] VAR_042459 commonName VAR_042459 VAR_042459 disease phenotype-associated VAR_042459 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419] VAR_042460 commonName VAR_042460 VAR_042460 disease phenotype-associated VAR_042460 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419] VAR_042461 commonName VAR_042461 VAR_042461 disease phenotype-associated VAR_042461 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419] VAR_042462 commonName VAR_042462 VAR_042462 disease phenotype-associated VAR_042462 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419] VAR_042463 commonName VAR_042463 VAR_042463 disease phenotype-associated VAR_042463 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419] VAR_042464 commonName VAR_042464 VAR_042464 disease not phenotype-associated VAR_042465 commonName VAR_042465 VAR_042465 disease not phenotype-associated VAR_042466 commonName VAR_042466 VAR_042466 disease not phenotype-associated VAR_042467 commonName VAR_042467 VAR_042467 disease not phenotype-associated VAR_042468 commonName VAR_042468 VAR_042468 disease not phenotype-associated VAR_042469 commonName VAR_042469 VAR_042469 disease not phenotype-associated VAR_042470 commonName VAR_042470 VAR_042470 disease not phenotype-associated VAR_042471 commonName VAR_042471 VAR_042471 disease not phenotype-associated VAR_042472 commonName VAR_042472 VAR_042472 disease not phenotype-associated VAR_042473 commonName VAR_042473 VAR_042473 disease not phenotype-associated VAR_042474 commonName VAR_042474 VAR_042474 disease not phenotype-associated VAR_042475 commonName VAR_042475 VAR_042475 disease not phenotype-associated VAR_042476 commonName VAR_042476 VAR_042476 disease not phenotype-associated VAR_042477 commonName VAR_042477 VAR_042477 disease not phenotype-associated VAR_042478 commonName VAR_042478 VAR_042478 disease not phenotype-associated VAR_042479 commonName VAR_042479 VAR_042479 disease not phenotype-associated VAR_042480 commonName VAR_042480 VAR_042480 disease not phenotype-associated VAR_042481 commonName VAR_042481 VAR_042481 disease not phenotype-associated VAR_042482 commonName VAR_042482 VAR_042482 disease not phenotype-associated VAR_042483 commonName VAR_042483 VAR_042483 disease not phenotype-associated VAR_042484 commonName VAR_042484 VAR_042484 disease not phenotype-associated VAR_042485 commonName VAR_042485 VAR_042485 disease not phenotype-associated VAR_042486 commonName VAR_042486 VAR_042486 disease not phenotype-associated VAR_042487 commonName VAR_042487 VAR_042487 disease not phenotype-associated VAR_042488 commonName VAR_042488 VAR_042488 disease not phenotype-associated VAR_042489 commonName VAR_042489 VAR_042489 disease not phenotype-associated VAR_042490 commonName VAR_042490 VAR_042490 disease not phenotype-associated VAR_042491 commonName VAR_042491 VAR_042491 disease not phenotype-associated VAR_042492 commonName VAR_042492 VAR_042492 disease not phenotype-associated VAR_042493 commonName VAR_042493 VAR_042493 disease not phenotype-associated VAR_042494 commonName VAR_042494 VAR_042494 disease not phenotype-associated VAR_042495 commonName VAR_042495 VAR_042495 disease not phenotype-associated VAR_042496 commonName VAR_042496 VAR_042496 disease not phenotype-associated VAR_042497 commonName VAR_042497 VAR_042497 disease not phenotype-associated VAR_042498 commonName VAR_042498 VAR_042498 disease not phenotype-associated VAR_042499 commonName VAR_042499 VAR_042499 disease not phenotype-associated VAR_042500 commonName VAR_042500 VAR_042500 disease not phenotype-associated VAR_042501 commonName VAR_042501 VAR_042501 disease not phenotype-associated VAR_042502 commonName VAR_042502 VAR_042502 disease not phenotype-associated VAR_042503 commonName VAR_042503 VAR_042503 disease not phenotype-associated VAR_042504 commonName VAR_042504 VAR_042504 disease not phenotype-associated VAR_042505 commonName VAR_042505 VAR_042505 disease not phenotype-associated VAR_042506 commonName VAR_042506 VAR_042506 disease phenotype-associated VAR_042506 phenoCommon Hemochromatosis (HFE) [MIM:235200] VAR_042507 commonName VAR_042507 VAR_042507 disease phenotype-associated VAR_042507 phenoCommon Hemochromatosis (HFE) [MIM:235200] VAR_042508 commonName VAR_042508 VAR_042508 disease phenotype-associated VAR_042508 phenoCommon Hemochromatosis (HFE) [MIM:235200] VAR_042509 commonName VAR_042509 VAR_042510 commonName VAR_042510 VAR_042510 disease phenotype-associated VAR_042510 phenoCommon Hemochromatosis (HFE) [MIM:235200] VAR_042511 commonName VAR_042511 VAR_042511 disease phenotype-associated VAR_042511 phenoCommon Hemochromatosis (HFE) [MIM:235200] VAR_042512 commonName VAR_042512 VAR_042512 disease phenotype-associated VAR_042512 phenoCommon Hemochromatosis type 2B (HFE2B) [MIM:613313] VAR_042513 commonName VAR_042513 VAR_042513 disease phenotype-associated VAR_042513 phenoCommon Hemochromatosis type 2B (HFE2B) [MIM:613313] VAR_042514 commonName VAR_042514 VAR_042514 disease phenotype-associated VAR_042514 phenoCommon Hemochromatosis type 2B (HFE2B) [MIM:613313] VAR_042515 commonName VAR_042515 VAR_042515 disease phenotype-associated VAR_042515 phenoCommon Hemochromatosis type 3 (HFE3) [MIM:604250] VAR_042516 commonName VAR_042516 VAR_042516 disease not phenotype-associated VAR_042518 commonName VAR_042518 VAR_042518 disease not phenotype-associated VAR_042519 commonName VAR_042519 VAR_042519 disease not phenotype-associated VAR_042520 commonName VAR_042520 VAR_042520 disease not phenotype-associated VAR_042521 commonName VAR_042521 VAR_042521 disease not phenotype-associated VAR_042522 commonName VAR_042522 VAR_042522 disease not phenotype-associated VAR_042523 commonName VAR_042523 VAR_042523 disease not phenotype-associated VAR_042524 commonName VAR_042524 VAR_042524 disease not phenotype-associated VAR_042525 commonName VAR_042525 VAR_042525 disease not phenotype-associated VAR_042526 commonName VAR_042526 VAR_042526 disease not phenotype-associated VAR_042527 commonName VAR_042527 VAR_042527 disease not phenotype-associated VAR_042528 commonName VAR_042528 VAR_042528 disease not phenotype-associated VAR_042529 commonName VAR_042529 VAR_042529 disease not phenotype-associated VAR_042530 commonName VAR_042530 VAR_042530 disease not phenotype-associated VAR_042531 commonName VAR_042531 VAR_042531 disease not phenotype-associated VAR_042532 commonName VAR_042532 VAR_042532 disease not phenotype-associated VAR_042533 commonName VAR_042533 VAR_042533 disease not phenotype-associated VAR_042534 commonName VAR_042534 VAR_042534 disease not phenotype-associated VAR_042535 commonName VAR_042535 VAR_042535 disease not phenotype-associated VAR_042536 commonName VAR_042536 VAR_042536 disease not phenotype-associated VAR_042537 commonName VAR_042537 VAR_042537 disease not phenotype-associated VAR_042538 commonName VAR_042538 VAR_042538 disease not phenotype-associated VAR_042539 commonName VAR_042539 VAR_042539 disease not phenotype-associated VAR_042542 commonName VAR_042542 VAR_042542 disease not phenotype-associated VAR_042543 commonName VAR_042543 VAR_042543 disease not phenotype-associated VAR_042544 commonName VAR_042544 VAR_042544 disease not phenotype-associated VAR_042545 commonName VAR_042545 VAR_042545 disease not phenotype-associated VAR_042546 commonName VAR_042546 VAR_042546 disease not phenotype-associated VAR_042547 commonName VAR_042547 VAR_042547 disease not phenotype-associated VAR_042548 commonName VAR_042548 VAR_042548 disease not phenotype-associated VAR_042549 commonName VAR_042549 VAR_042549 disease not phenotype-associated VAR_042551 commonName VAR_042551 VAR_042551 disease not phenotype-associated VAR_042552 commonName VAR_042552 VAR_042552 disease not phenotype-associated VAR_042553 commonName VAR_042553 VAR_042553 disease not phenotype-associated VAR_042554 commonName VAR_042554 VAR_042554 disease not phenotype-associated VAR_042555 commonName VAR_042555 VAR_042555 disease not phenotype-associated VAR_042556 commonName VAR_042556 VAR_042556 disease not phenotype-associated VAR_042557 commonName VAR_042557 VAR_042557 disease not phenotype-associated VAR_042558 commonName VAR_042558 VAR_042558 disease not phenotype-associated VAR_042559 commonName VAR_042559 VAR_042559 disease not phenotype-associated VAR_042560 commonName VAR_042560 VAR_042560 disease not phenotype-associated VAR_042561 commonName VAR_042561 VAR_042561 disease not phenotype-associated VAR_042562 commonName VAR_042562 VAR_042562 disease not phenotype-associated VAR_042563 commonName VAR_042563 VAR_042563 disease not phenotype-associated VAR_042564 commonName VAR_042564 VAR_042564 disease not phenotype-associated VAR_042565 commonName VAR_042565 VAR_042565 disease not phenotype-associated VAR_042566 commonName VAR_042566 VAR_042566 disease not phenotype-associated VAR_042567 commonName VAR_042567 VAR_042567 disease not phenotype-associated VAR_042570 commonName VAR_042570 VAR_042570 disease not phenotype-associated VAR_042571 commonName VAR_042571 VAR_042571 disease not phenotype-associated VAR_042572 commonName VAR_042572 VAR_042572 disease not phenotype-associated VAR_042574 commonName VAR_042574 VAR_042574 disease not phenotype-associated VAR_042576 commonName VAR_042576 VAR_042576 disease not phenotype-associated VAR_042577 commonName VAR_042577 VAR_042577 disease not phenotype-associated VAR_042578 commonName VAR_042578 VAR_042578 disease not phenotype-associated VAR_042580 commonName VAR_042580 VAR_042580 disease not phenotype-associated VAR_042581 commonName VAR_042581 VAR_042581 disease not phenotype-associated VAR_042582 commonName VAR_042582 VAR_042582 disease not phenotype-associated VAR_042583 commonName VAR_042583 VAR_042583 disease not phenotype-associated VAR_042600 commonName VAR_042600 VAR_042600 disease not phenotype-associated VAR_042601 commonName VAR_042601 VAR_042601 disease not phenotype-associated VAR_042602 commonName VAR_042602 VAR_042602 disease phenotype-associated VAR_042602 phenoCommon Multiple sulfatase deficiency (MSD) [MIM:272200] VAR_042603 commonName VAR_042603 VAR_042603 disease phenotype-associated VAR_042603 phenoCommon X-linked dominant scapuloperoneal myopathy (SPM) [MIM:300695] VAR_042605 commonName VAR_042605 VAR_042605 disease phenotype-associated VAR_042605 phenoCommon X-linked myopathy with postural muscle atrophy (XMPMA) [MIM:300696] VAR_042606 commonName VAR_042606 VAR_042606 disease phenotype-associated VAR_042606 phenoCommon Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] VAR_042607 commonName VAR_042607 VAR_042607 disease phenotype-associated VAR_042607 phenoCommon Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] VAR_042608 commonName VAR_042608 VAR_042608 disease phenotype-associated VAR_042608 phenoCommon Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] VAR_042609 commonName VAR_042609 VAR_042609 disease phenotype-associated VAR_042609 phenoCommon Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] VAR_042610 commonName VAR_042610 VAR_042610 disease phenotype-associated VAR_042610 phenoCommon Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] VAR_042611 commonName VAR_042611 VAR_042611 disease phenotype-associated VAR_042611 phenoCommon Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] VAR_042612 commonName VAR_042612 VAR_042612 disease phenotype-associated VAR_042612 phenoCommon Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] VAR_042613 commonName VAR_042613 VAR_042613 disease not phenotype-associated VAR_042614 commonName VAR_042614 VAR_042614 disease phenotype-associated VAR_042614 phenoCommon Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] VAR_042616 commonName VAR_042616 VAR_042616 disease not phenotype-associated VAR_042617 commonName VAR_042617 VAR_042617 disease not phenotype-associated VAR_042618 commonName VAR_042618 VAR_042618 disease not phenotype-associated VAR_042619 commonName VAR_042619 VAR_042619 disease not phenotype-associated VAR_042620 commonName VAR_042620 VAR_042620 disease not phenotype-associated VAR_042621 commonName VAR_042621 VAR_042621 disease not phenotype-associated VAR_042622 commonName VAR_042622 VAR_042622 disease not phenotype-associated VAR_042623 commonName VAR_042623 VAR_042623 disease not phenotype-associated VAR_042624 commonName VAR_042624 VAR_042624 disease not phenotype-associated VAR_042625 commonName VAR_042625 VAR_042625 disease not phenotype-associated VAR_042626 commonName VAR_042626 VAR_042626 disease not phenotype-associated VAR_042627 commonName VAR_042627 VAR_042627 disease not phenotype-associated VAR_042628 commonName VAR_042628 VAR_042628 disease not phenotype-associated VAR_042629 commonName VAR_042629 VAR_042629 disease not phenotype-associated VAR_042630 commonName VAR_042630 VAR_042630 disease not phenotype-associated VAR_042631 commonName VAR_042631 VAR_042631 disease not phenotype-associated VAR_042643 comment A breast cancer sample VAR_042643 commonName VAR_042643 VAR_042644 commonName VAR_042644 VAR_042644 disease not phenotype-associated VAR_042645 commonName VAR_042645 VAR_042645 disease not phenotype-associated VAR_042646 commonName VAR_042646 VAR_042646 disease not phenotype-associated VAR_042647 commonName VAR_042647 VAR_042647 disease not phenotype-associated VAR_042648 commonName VAR_042648 VAR_042648 disease not phenotype-associated VAR_042649 commonName VAR_042649 VAR_042649 disease not phenotype-associated VAR_042650 commonName VAR_042650 VAR_042650 disease not phenotype-associated VAR_042652 commonName VAR_042652 VAR_042652 disease not phenotype-associated VAR_042653 commonName VAR_042653 VAR_042653 disease not phenotype-associated VAR_042654 commonName VAR_042654 VAR_042654 disease not phenotype-associated VAR_042655 commonName VAR_042655 VAR_042655 disease not phenotype-associated VAR_042656 commonName VAR_042656 VAR_042656 disease not phenotype-associated VAR_042657 commonName VAR_042657 VAR_042657 disease not phenotype-associated VAR_042659 commonName VAR_042659 VAR_042660 commonName VAR_042660 VAR_042661 commonName VAR_042661 VAR_042661 disease not phenotype-associated VAR_042662 commonName VAR_042662 VAR_042662 disease not phenotype-associated VAR_042663 commonName VAR_042663 VAR_042665 commonName VAR_042665 VAR_042665 disease not phenotype-associated VAR_042666 commonName VAR_042666 VAR_042666 disease phenotype-associated VAR_042666 phenoCommon Incontinentia pigmenti (IP) [MIM:308300] VAR_042667 commonName VAR_042667 VAR_042667 disease not phenotype-associated VAR_042668 commonName VAR_042668 VAR_042668 disease not phenotype-associated VAR_042669 commonName VAR_042669 VAR_042669 disease not phenotype-associated VAR_042670 commonName VAR_042670 VAR_042670 disease not phenotype-associated VAR_042671 commonName VAR_042671 VAR_042671 disease not phenotype-associated VAR_042676 commonName VAR_042676 VAR_042676 disease not phenotype-associated VAR_042679 commonName VAR_042679 VAR_042679 disease not phenotype-associated VAR_042684 commonName VAR_042684 VAR_042684 disease not phenotype-associated VAR_042685 commonName VAR_042685 VAR_042685 disease not phenotype-associated VAR_042686 commonName VAR_042686 VAR_042686 disease not phenotype-associated VAR_042687 commonName VAR_042687 VAR_042687 disease not phenotype-associated VAR_042688 comment A breast cancer sample VAR_042688 commonName VAR_042688 VAR_042689 comment A breast cancer sample VAR_042689 commonName VAR_042689 VAR_042690 comment A colorectal cancer sample VAR_042690 commonName VAR_042690 VAR_042691 commonName VAR_042691 VAR_042691 disease not phenotype-associated VAR_042693 commonName VAR_042693 VAR_042693 disease not phenotype-associated VAR_042694 commonName VAR_042694 VAR_042694 disease not phenotype-associated VAR_042695 commonName VAR_042695 VAR_042695 disease not phenotype-associated VAR_042696 commonName VAR_042696 VAR_042696 disease not phenotype-associated VAR_042698 commonName VAR_042698 VAR_042698 disease not phenotype-associated VAR_042699 commonName VAR_042699 VAR_042699 disease not phenotype-associated VAR_042700 commonName VAR_042700 VAR_042700 disease phenotype-associated VAR_042700 phenoCommon Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731] VAR_042701 commonName VAR_042701 VAR_042701 disease phenotype-associated VAR_042701 phenoCommon Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731] VAR_042702 commonName VAR_042702 VAR_042702 disease phenotype-associated VAR_042702 phenoCommon Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731] VAR_042703 commonName VAR_042703 VAR_042703 disease not phenotype-associated VAR_042704 commonName VAR_042704 VAR_042704 disease not phenotype-associated VAR_042705 commonName VAR_042705 VAR_042706 commonName VAR_042706 VAR_042707 commonName VAR_042707 VAR_042710 commonName VAR_042710 VAR_042710 disease not phenotype-associated VAR_042711 comment A breast cancer sample VAR_042711 commonName VAR_042711 VAR_042712 commonName VAR_042712 VAR_042712 disease not phenotype-associated VAR_042713 commonName VAR_042713 VAR_042713 disease not phenotype-associated VAR_042714 commonName VAR_042714 VAR_042714 disease not phenotype-associated VAR_042715 commonName VAR_042715 VAR_042715 disease not phenotype-associated VAR_042716 commonName VAR_042716 VAR_042716 disease not phenotype-associated VAR_042717 commonName VAR_042717 VAR_042717 disease not phenotype-associated VAR_042718 commonName VAR_042718 VAR_042718 disease not phenotype-associated VAR_042719 commonName VAR_042719 VAR_042719 disease not phenotype-associated VAR_042720 comment A colorectal cancer sample VAR_042720 commonName VAR_042720 VAR_042721 commonName VAR_042721 VAR_042721 disease not phenotype-associated VAR_042722 commonName VAR_042722 VAR_042722 disease not phenotype-associated VAR_042723 commonName VAR_042723 VAR_042723 disease not phenotype-associated VAR_042724 commonName VAR_042724 VAR_042724 disease not phenotype-associated VAR_042725 commonName VAR_042725 VAR_042725 disease not phenotype-associated VAR_042726 commonName VAR_042726 VAR_042726 disease not phenotype-associated VAR_042727 commonName VAR_042727 VAR_042727 disease not phenotype-associated VAR_042728 commonName VAR_042728 VAR_042728 disease not phenotype-associated VAR_042729 commonName VAR_042729 VAR_042729 disease not phenotype-associated VAR_042730 commonName VAR_042730 VAR_042730 disease not phenotype-associated VAR_042731 commonName VAR_042731 VAR_042731 disease not phenotype-associated VAR_042732 commonName VAR_042732 VAR_042732 disease not phenotype-associated VAR_042733 commonName VAR_042733 VAR_042733 disease phenotype-associated VAR_042733 phenoCommon Combined oxidative phosphorylation deficiency type 5 (COXPD5) [MIM:611719] VAR_042734 commonName VAR_042734 VAR_042734 disease phenotype-associated VAR_042734 phenoCommon Lipoprotein glomerulopathy (LPG) [MIM:611771] VAR_042735 commonName VAR_042735 VAR_042735 disease phenotype-associated VAR_042735 phenoCommon Lipoprotein glomerulopathy (LPG) [MIM:611771] VAR_042736 commonName VAR_042736 VAR_042736 disease not phenotype-associated VAR_042737 commonName VAR_042737 VAR_042737 disease not phenotype-associated VAR_042738 commonName VAR_042738 VAR_042738 disease not phenotype-associated VAR_042739 commonName VAR_042739 VAR_042739 disease not phenotype-associated VAR_042745 commonName VAR_042745 VAR_042745 disease phenotype-associated VAR_042745 phenoCommon Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690] VAR_042746 commonName VAR_042746 VAR_042746 disease phenotype-associated VAR_042746 phenoCommon Familial hypertrophic cardiomyopathy type 7 (CMH7) [MIM:613690] VAR_042750 commonName VAR_042750 VAR_042750 disease not phenotype-associated VAR_042751 commonName VAR_042751 VAR_042751 disease not phenotype-associated VAR_042752 commonName VAR_042752 VAR_042752 disease not phenotype-associated VAR_042753 commonName VAR_042753 VAR_042753 disease not phenotype-associated VAR_042754 comment A breast cancer sample VAR_042754 commonName VAR_042754 VAR_042755 commonName VAR_042755 VAR_042755 disease not phenotype-associated VAR_042756 commonName VAR_042756 VAR_042756 disease not phenotype-associated VAR_042757 commonName VAR_042757 VAR_042757 disease not phenotype-associated VAR_042758 commonName VAR_042758 VAR_042758 disease not phenotype-associated VAR_042759 commonName VAR_042759 VAR_042759 disease not phenotype-associated VAR_042760 commonName VAR_042760 VAR_042760 disease not phenotype-associated VAR_042761 commonName VAR_042761 VAR_042761 disease not phenotype-associated VAR_042762 commonName VAR_042762 VAR_042762 disease phenotype-associated VAR_042762 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042763 commonName VAR_042763 VAR_042763 disease phenotype-associated VAR_042763 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042764 commonName VAR_042764 VAR_042764 disease phenotype-associated VAR_042764 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042765 commonName VAR_042765 VAR_042765 disease phenotype-associated VAR_042765 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042766 commonName VAR_042766 VAR_042766 disease phenotype-associated VAR_042766 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042767 commonName VAR_042767 VAR_042767 disease phenotype-associated VAR_042767 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042768 commonName VAR_042768 VAR_042768 disease phenotype-associated VAR_042768 phenoCommon Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426] VAR_042769 commonName VAR_042769 VAR_042769 disease phenotype-associated VAR_042769 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042770 commonName VAR_042770 VAR_042770 disease phenotype-associated VAR_042770 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042771 commonName VAR_042771 VAR_042771 disease phenotype-associated VAR_042771 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042772 commonName VAR_042772 VAR_042772 disease phenotype-associated VAR_042772 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042773 commonName VAR_042773 VAR_042773 disease phenotype-associated VAR_042773 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042774 commonName VAR_042774 VAR_042774 disease phenotype-associated VAR_042774 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042775 commonName VAR_042775 VAR_042775 disease phenotype-associated VAR_042775 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042776 commonName VAR_042776 VAR_042776 disease phenotype-associated VAR_042776 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042777 commonName VAR_042777 VAR_042777 disease phenotype-associated VAR_042777 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042778 commonName VAR_042778 VAR_042778 disease phenotype-associated VAR_042778 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042779 commonName VAR_042779 VAR_042779 disease phenotype-associated VAR_042779 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042780 commonName VAR_042780 VAR_042780 disease phenotype-associated VAR_042780 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042781 commonName VAR_042781 VAR_042781 disease phenotype-associated VAR_042781 phenoCommon Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426] VAR_042782 commonName VAR_042782 VAR_042782 disease phenotype-associated VAR_042782 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042783 commonName VAR_042783 VAR_042783 disease phenotype-associated VAR_042783 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042784 commonName VAR_042784 VAR_042784 disease phenotype-associated VAR_042784 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042785 commonName VAR_042785 VAR_042785 disease phenotype-associated VAR_042785 phenoCommon Myopathy distal type 1 (MPD1) [MIM:160500] VAR_042786 commonName VAR_042786 VAR_042786 disease phenotype-associated VAR_042786 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042787 commonName VAR_042787 VAR_042787 disease phenotype-associated VAR_042787 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042788 commonName VAR_042788 VAR_042788 disease phenotype-associated VAR_042788 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042789 commonName VAR_042789 VAR_042789 disease phenotype-associated VAR_042789 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042790 commonName VAR_042790 VAR_042790 disease phenotype-associated VAR_042790 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042791 commonName VAR_042791 VAR_042791 disease phenotype-associated VAR_042791 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042792 commonName VAR_042792 VAR_042792 disease phenotype-associated VAR_042792 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042793 commonName VAR_042793 VAR_042793 disease phenotype-associated VAR_042793 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042794 commonName VAR_042794 VAR_042794 disease phenotype-associated VAR_042794 phenoCommon Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426] VAR_042795 commonName VAR_042795 VAR_042795 disease phenotype-associated VAR_042795 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042796 commonName VAR_042796 VAR_042796 disease phenotype-associated VAR_042796 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042797 commonName VAR_042797 VAR_042797 disease phenotype-associated VAR_042797 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042798 commonName VAR_042798 VAR_042798 disease phenotype-associated VAR_042798 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042799 commonName VAR_042799 VAR_042799 disease phenotype-associated VAR_042799 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042800 commonName VAR_042800 VAR_042800 disease phenotype-associated VAR_042800 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042801 commonName VAR_042801 VAR_042801 disease phenotype-associated VAR_042801 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042802 commonName VAR_042802 VAR_042802 disease phenotype-associated VAR_042802 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042803 commonName VAR_042803 VAR_042803 disease phenotype-associated VAR_042803 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042804 commonName VAR_042804 VAR_042804 disease phenotype-associated VAR_042804 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042805 commonName VAR_042805 VAR_042805 disease phenotype-associated VAR_042805 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042806 commonName VAR_042806 VAR_042806 disease phenotype-associated VAR_042806 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042807 commonName VAR_042807 VAR_042807 disease phenotype-associated VAR_042807 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042809 commonName VAR_042809 VAR_042809 disease phenotype-associated VAR_042809 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042810 commonName VAR_042810 VAR_042810 disease phenotype-associated VAR_042810 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042811 commonName VAR_042811 VAR_042811 disease phenotype-associated VAR_042811 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042812 commonName VAR_042812 VAR_042812 disease phenotype-associated VAR_042812 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042813 commonName VAR_042813 VAR_042813 disease phenotype-associated VAR_042813 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042814 commonName VAR_042814 VAR_042814 disease phenotype-associated VAR_042814 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042815 commonName VAR_042815 VAR_042815 disease phenotype-associated VAR_042815 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042816 commonName VAR_042816 VAR_042816 disease phenotype-associated VAR_042816 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042817 commonName VAR_042817 VAR_042817 disease phenotype-associated VAR_042817 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042818 commonName VAR_042818 VAR_042818 disease phenotype-associated VAR_042818 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042819 commonName VAR_042819 VAR_042819 disease phenotype-associated VAR_042819 phenoCommon Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426] VAR_042820 commonName VAR_042820 VAR_042820 disease phenotype-associated VAR_042820 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042821 commonName VAR_042821 VAR_042821 disease phenotype-associated VAR_042821 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042822 commonName VAR_042822 VAR_042822 disease phenotype-associated VAR_042822 phenoCommon Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426] VAR_042823 commonName VAR_042823 VAR_042823 disease phenotype-associated VAR_042823 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042824 commonName VAR_042824 VAR_042824 disease phenotype-associated VAR_042824 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042825 commonName VAR_042825 VAR_042825 disease phenotype-associated VAR_042825 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042826 commonName VAR_042826 VAR_042826 disease phenotype-associated VAR_042826 phenoCommon Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426] VAR_042827 commonName VAR_042827 VAR_042827 disease phenotype-associated VAR_042827 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042828 commonName VAR_042828 VAR_042828 disease phenotype-associated VAR_042828 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042829 commonName VAR_042829 VAR_042829 disease not phenotype-associated VAR_042830 commonName VAR_042830 VAR_042830 disease phenotype-associated VAR_042830 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042831 commonName VAR_042831 VAR_042831 disease not phenotype-associated VAR_042833 commonName VAR_042833 VAR_042833 disease phenotype-associated VAR_042833 phenoCommon Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426] VAR_042834 commonName VAR_042834 VAR_042834 disease phenotype-associated VAR_042834 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042836 commonName VAR_042836 VAR_042836 disease phenotype-associated VAR_042836 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042837 commonName VAR_042837 VAR_042837 disease phenotype-associated VAR_042837 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042838 commonName VAR_042838 VAR_042838 disease phenotype-associated VAR_042838 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042839 commonName VAR_042839 VAR_042839 disease phenotype-associated VAR_042839 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042840 commonName VAR_042840 VAR_042840 disease phenotype-associated VAR_042840 phenoCommon Myopathy myosin storage (MYOMS) [MIM:608358] VAR_042841 commonName VAR_042841 VAR_042841 disease not phenotype-associated VAR_042842 commonName VAR_042842 VAR_042842 disease phenotype-associated VAR_042842 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_042843 commonName VAR_042843 VAR_042843 disease not phenotype-associated VAR_042844 commonName VAR_042844 VAR_042844 disease not phenotype-associated VAR_042845 commonName VAR_042845 VAR_042845 disease not phenotype-associated VAR_042846 commonName VAR_042846 VAR_042846 disease not phenotype-associated VAR_042847 commonName VAR_042847 VAR_042847 disease not phenotype-associated VAR_042848 commonName VAR_042848 VAR_042848 disease not phenotype-associated VAR_042849 commonName VAR_042849 VAR_042849 disease not phenotype-associated VAR_042850 commonName VAR_042850 VAR_042850 disease not phenotype-associated VAR_042851 commonName VAR_042851 VAR_042851 disease not phenotype-associated VAR_042852 commonName VAR_042852 VAR_042852 disease not phenotype-associated VAR_042853 commonName VAR_042853 VAR_042853 disease not phenotype-associated VAR_042854 commonName VAR_042854 VAR_042854 disease not phenotype-associated VAR_042855 commonName VAR_042855 VAR_042855 disease not phenotype-associated VAR_042856 commonName VAR_042856 VAR_042856 disease not phenotype-associated VAR_042857 commonName VAR_042857 VAR_042857 disease not phenotype-associated VAR_042858 commonName VAR_042858 VAR_042858 disease not phenotype-associated VAR_042859 commonName VAR_042859 VAR_042859 disease not phenotype-associated VAR_042860 commonName VAR_042860 VAR_042860 disease not phenotype-associated VAR_042863 commonName VAR_042863 VAR_042863 disease not phenotype-associated VAR_042864 commonName VAR_042864 VAR_042864 disease not phenotype-associated VAR_042865 commonName VAR_042865 VAR_042865 disease not phenotype-associated VAR_042866 commonName VAR_042866 VAR_042866 disease not phenotype-associated VAR_042867 comment A colorectal cancer sample VAR_042867 commonName VAR_042867 VAR_042868 commonName VAR_042868 VAR_042868 disease not phenotype-associated VAR_042869 commonName VAR_042869 VAR_042869 disease not phenotype-associated VAR_042870 commonName VAR_042870 VAR_042870 disease not phenotype-associated VAR_042871 commonName VAR_042871 VAR_042871 disease not phenotype-associated VAR_042872 commonName VAR_042872 VAR_042872 disease not phenotype-associated VAR_042873 commonName VAR_042873 VAR_042873 disease not phenotype-associated VAR_042874 commonName VAR_042874 VAR_042874 disease not phenotype-associated VAR_042875 commonName VAR_042875 VAR_042875 disease not phenotype-associated VAR_042876 commonName VAR_042876 VAR_042876 disease not phenotype-associated VAR_042877 commonName VAR_042877 VAR_042877 disease not phenotype-associated VAR_042886 commonName VAR_042886 VAR_042886 disease not phenotype-associated VAR_042889 commonName VAR_042889 VAR_042889 disease not phenotype-associated VAR_042890 commonName VAR_042890 VAR_042890 disease not phenotype-associated VAR_042891 commonName VAR_042891 VAR_042891 disease not phenotype-associated VAR_042892 commonName VAR_042892 VAR_042892 disease not phenotype-associated VAR_042893 commonName VAR_042893 VAR_042893 disease not phenotype-associated VAR_042894 commonName VAR_042894 VAR_042894 disease not phenotype-associated VAR_042895 commonName VAR_042895 VAR_042895 disease not phenotype-associated VAR_042896 commonName VAR_042896 VAR_042896 disease not phenotype-associated VAR_042897 commonName VAR_042897 VAR_042897 disease not phenotype-associated VAR_042898 commonName VAR_042898 VAR_042898 disease not phenotype-associated VAR_042899 commonName VAR_042899 VAR_042899 disease not phenotype-associated VAR_042900 commonName VAR_042900 VAR_042900 disease not phenotype-associated VAR_042903 commonName VAR_042903 VAR_042903 disease not phenotype-associated VAR_042904 commonName VAR_042904 VAR_042904 disease not phenotype-associated VAR_042905 commonName VAR_042905 VAR_042905 disease not phenotype-associated VAR_042907 commonName VAR_042907 VAR_042907 disease not phenotype-associated VAR_042908 commonName VAR_042908 VAR_042908 disease not phenotype-associated VAR_042909 commonName VAR_042909 VAR_042909 disease not phenotype-associated VAR_042910 commonName VAR_042910 VAR_042910 disease not phenotype-associated VAR_042911 comment A colorectal cancer sample VAR_042911 commonName VAR_042911 VAR_042912 commonName VAR_042912 VAR_042912 disease not phenotype-associated VAR_042913 commonName VAR_042913 VAR_042913 disease not phenotype-associated VAR_042914 commonName VAR_042914 VAR_042914 disease not phenotype-associated VAR_042915 commonName VAR_042915 VAR_042915 disease not phenotype-associated VAR_042916 commonName VAR_042916 VAR_042916 disease not phenotype-associated VAR_042917 commonName VAR_042917 VAR_042917 disease not phenotype-associated VAR_042918 commonName VAR_042918 VAR_042918 disease not phenotype-associated VAR_042919 commonName VAR_042919 VAR_042919 disease not phenotype-associated VAR_042920 commonName VAR_042920 VAR_042920 disease not phenotype-associated VAR_042921 commonName VAR_042921 VAR_042921 disease not phenotype-associated VAR_042922 commonName VAR_042922 VAR_042922 disease not phenotype-associated VAR_042923 commonName VAR_042923 VAR_042923 disease not phenotype-associated VAR_042924 commonName VAR_042924 VAR_042924 disease not phenotype-associated VAR_042925 commonName VAR_042925 VAR_042925 disease not phenotype-associated VAR_042926 comment A breast cancer sample VAR_042926 commonName VAR_042926 VAR_042927 commonName VAR_042927 VAR_042927 disease not phenotype-associated VAR_042928 commonName VAR_042928 VAR_042928 disease not phenotype-associated VAR_042929 commonName VAR_042929 VAR_042929 disease not phenotype-associated VAR_042930 commonName VAR_042930 VAR_042930 disease not phenotype-associated VAR_042931 commonName VAR_042931 VAR_042931 disease not phenotype-associated VAR_042932 commonName VAR_042932 VAR_042932 disease not phenotype-associated VAR_042933 commonName VAR_042933 VAR_042933 disease not phenotype-associated VAR_042934 commonName VAR_042934 VAR_042934 disease not phenotype-associated VAR_042936 commonName VAR_042936 VAR_042936 disease not phenotype-associated VAR_042938 commonName VAR_042938 VAR_042938 disease not phenotype-associated VAR_042939 commonName VAR_042939 VAR_042939 disease phenotype-associated VAR_042939 phenoCommon Limb-girdle muscular dystrophy type 2H (LGMD2H) [MIM:254110] VAR_042941 commonName VAR_042941 VAR_042941 disease not phenotype-associated VAR_042942 commonName VAR_042942 VAR_042942 disease not phenotype-associated VAR_042943 commonName VAR_042943 VAR_042943 disease not phenotype-associated VAR_042948 commonName VAR_042948 VAR_042948 disease not phenotype-associated VAR_042953 commonName VAR_042953 VAR_042953 disease not phenotype-associated VAR_042954 commonName VAR_042954 VAR_042954 disease not phenotype-associated VAR_042955 commonName VAR_042955 VAR_042955 disease not phenotype-associated VAR_042959 commonName VAR_042959 VAR_042959 disease not phenotype-associated VAR_042960 commonName VAR_042960 VAR_042960 disease not phenotype-associated VAR_042961 commonName VAR_042961 VAR_042961 disease not phenotype-associated VAR_042962 commonName VAR_042962 VAR_042962 disease not phenotype-associated VAR_042964 commonName VAR_042964 VAR_042964 disease not phenotype-associated VAR_042965 commonName VAR_042965 VAR_042965 disease not phenotype-associated VAR_042966 commonName VAR_042966 VAR_042966 disease not phenotype-associated VAR_042967 commonName VAR_042967 VAR_042967 disease not phenotype-associated VAR_042968 commonName VAR_042968 VAR_042968 disease not phenotype-associated VAR_042969 commonName VAR_042969 VAR_042969 disease not phenotype-associated VAR_042972 commonName VAR_042972 VAR_042972 disease not phenotype-associated VAR_042975 commonName VAR_042975 VAR_042975 disease not phenotype-associated VAR_042976 comment A breast cancer sample VAR_042976 commonName VAR_042976 VAR_042977 commonName VAR_042977 VAR_042977 disease not phenotype-associated VAR_042979 commonName VAR_042979 VAR_042979 disease not phenotype-associated VAR_042980 commonName VAR_042980 VAR_042980 disease not phenotype-associated VAR_042981 commonName VAR_042981 VAR_042981 disease not phenotype-associated VAR_042982 commonName VAR_042982 VAR_042982 disease not phenotype-associated VAR_042983 commonName VAR_042983 VAR_042983 disease not phenotype-associated VAR_042984 commonName VAR_042984 VAR_042984 disease not phenotype-associated VAR_042985 commonName VAR_042985 VAR_042985 disease not phenotype-associated VAR_042986 commonName VAR_042986 VAR_042986 disease not phenotype-associated VAR_042987 commonName VAR_042987 VAR_042987 disease not phenotype-associated VAR_042988 commonName VAR_042988 VAR_042988 disease not phenotype-associated VAR_042989 commonName VAR_042989 VAR_042989 disease not phenotype-associated VAR_042990 commonName VAR_042990 VAR_042990 disease not phenotype-associated VAR_042991 commonName VAR_042991 VAR_042991 disease not phenotype-associated VAR_042992 commonName VAR_042992 VAR_042992 disease not phenotype-associated VAR_042994 commonName VAR_042994 VAR_042994 disease not phenotype-associated VAR_042998 commonName VAR_042998 VAR_042998 disease not phenotype-associated VAR_042999 commonName VAR_042999 VAR_042999 disease not phenotype-associated VAR_043000 commonName VAR_043000 VAR_043000 disease not phenotype-associated VAR_043001 comment A colorectal cancer sample VAR_043001 commonName VAR_043001 VAR_043002 commonName VAR_043002 VAR_043002 disease not phenotype-associated VAR_043003 commonName VAR_043003 VAR_043003 disease not phenotype-associated VAR_043004 comment A colorectal cancer sample VAR_043004 commonName VAR_043004 VAR_043005 commonName VAR_043005 VAR_043005 disease not phenotype-associated VAR_043006 commonName VAR_043006 VAR_043006 disease not phenotype-associated VAR_043007 commonName VAR_043007 VAR_043007 disease not phenotype-associated VAR_043008 commonName VAR_043008 VAR_043008 disease not phenotype-associated VAR_043009 commonName VAR_043009 VAR_043009 disease not phenotype-associated VAR_043010 commonName VAR_043010 VAR_043010 disease not phenotype-associated VAR_043011 commonName VAR_043011 VAR_043011 disease phenotype-associated VAR_043011 phenoCommon Neurofibromatosis 2 (NF2) [MIM:101000] VAR_043012 commonName VAR_043012 VAR_043012 disease phenotype-associated VAR_043012 phenoCommon Neurofibromatosis 2 (NF2) [MIM:101000] VAR_043013 commonName VAR_043013 VAR_043013 disease phenotype-associated VAR_043013 phenoCommon Neurofibromatosis 2 (NF2) [MIM:101000] VAR_043014 commonName VAR_043014 VAR_043014 disease phenotype-associated VAR_043014 phenoCommon Neurofibromatosis 2 (NF2) [MIM:101000] VAR_043015 commonName VAR_043015 VAR_043015 disease phenotype-associated VAR_043015 phenoCommon Neurofibromatosis 2 (NF2) [MIM:101000] VAR_043016 commonName VAR_043016 VAR_043016 disease phenotype-associated VAR_043016 phenoCommon Neurofibromatosis 2 (NF2) [MIM:101000] VAR_043017 commonName VAR_043017 VAR_043017 disease phenotype-associated VAR_043017 phenoCommon Neurofibromatosis 2 (NF2) [MIM:101000] VAR_043018 commonName VAR_043018 VAR_043018 disease not phenotype-associated VAR_043019 commonName VAR_043019 VAR_043019 disease not phenotype-associated VAR_043020 commonName VAR_043020 VAR_043020 disease not phenotype-associated VAR_043021 commonName VAR_043021 VAR_043021 disease not phenotype-associated VAR_043022 commonName VAR_043022 VAR_043022 disease not phenotype-associated VAR_043023 commonName VAR_043023 VAR_043023 disease not phenotype-associated VAR_043024 commonName VAR_043024 VAR_043024 disease not phenotype-associated VAR_043025 commonName VAR_043025 VAR_043025 disease not phenotype-associated VAR_043026 commonName VAR_043026 VAR_043026 disease not phenotype-associated VAR_043027 commonName VAR_043027 VAR_043027 disease not phenotype-associated VAR_043028 commonName VAR_043028 VAR_043028 disease not phenotype-associated VAR_043033 commonName VAR_043033 VAR_043033 disease not phenotype-associated VAR_043034 commonName VAR_043034 VAR_043034 disease not phenotype-associated VAR_043035 commonName VAR_043035 VAR_043035 disease not phenotype-associated VAR_043036 commonName VAR_043036 VAR_043036 disease not phenotype-associated VAR_043037 commonName VAR_043037 VAR_043037 disease not phenotype-associated VAR_043038 commonName VAR_043038 VAR_043038 disease not phenotype-associated VAR_043039 commonName VAR_043039 VAR_043039 disease not phenotype-associated VAR_043041 commonName VAR_043041 VAR_043041 disease not phenotype-associated VAR_043042 commonName VAR_043042 VAR_043042 disease not phenotype-associated VAR_043043 commonName VAR_043043 VAR_043043 disease not phenotype-associated VAR_043044 commonName VAR_043044 VAR_043044 disease phenotype-associated VAR_043044 phenoCommon Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480] VAR_043045 commonName VAR_043045 VAR_043046 commonName VAR_043046 VAR_043046 disease phenotype-associated VAR_043046 phenoCommon Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600] VAR_043047 commonName VAR_043047 VAR_043047 disease phenotype-associated VAR_043047 phenoCommon Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480] VAR_043048 commonName VAR_043048 VAR_043048 disease not phenotype-associated VAR_043049 commonName VAR_043049 VAR_043049 disease phenotype-associated VAR_043049 phenoCommon Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300] VAR_043050 commonName VAR_043050 VAR_043050 disease phenotype-associated VAR_043050 phenoCommon Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300] VAR_043051 commonName VAR_043051 VAR_043051 disease not phenotype-associated VAR_043052 commonName VAR_043052 VAR_043052 disease not phenotype-associated VAR_043053 commonName VAR_043053 VAR_043053 disease phenotype-associated VAR_043053 phenoCommon Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600] VAR_043054 commonName VAR_043054 VAR_043054 disease phenotype-associated VAR_043054 phenoCommon Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600] VAR_043055 commonName VAR_043055 VAR_043055 disease not phenotype-associated VAR_043056 commonName VAR_043056 VAR_043056 disease phenotype-associated VAR_043056 phenoCommon Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300] VAR_043057 commonName VAR_043057 VAR_043057 disease phenotype-associated VAR_043057 phenoCommon Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300] VAR_043058 commonName VAR_043058 VAR_043058 disease phenotype-associated VAR_043058 phenoCommon Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600] VAR_043059 commonName VAR_043059 VAR_043059 disease phenotype-associated VAR_043059 phenoCommon Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600] VAR_043061 commonName VAR_043061 VAR_043061 disease phenotype-associated VAR_043061 phenoCommon Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600] VAR_043062 commonName VAR_043062 VAR_043062 disease not phenotype-associated VAR_043063 commonName VAR_043063 VAR_043063 disease phenotype-associated VAR_043063 phenoCommon Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300] VAR_043064 commonName VAR_043064 VAR_043064 disease phenotype-associated VAR_043064 phenoCommon Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300] VAR_043065 commonName VAR_043065 VAR_043065 disease phenotype-associated VAR_043065 phenoCommon Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300] VAR_043066 commonName VAR_043066 VAR_043066 disease not phenotype-associated VAR_043067 commonName VAR_043067 VAR_043067 disease phenotype-associated VAR_043067 phenoCommon Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600] VAR_043068 commonName VAR_043068 VAR_043068 disease phenotype-associated VAR_043068 phenoCommon Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300] VAR_043069 commonName VAR_043069 VAR_043069 disease phenotype-associated VAR_043069 phenoCommon Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600] VAR_043070 commonName VAR_043070 VAR_043070 disease not phenotype-associated VAR_043071 commonName VAR_043071 VAR_043071 disease phenotype-associated VAR_043071 phenoCommon Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600] VAR_043072 commonName VAR_043072 VAR_043072 disease phenotype-associated VAR_043072 phenoCommon Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480] VAR_043073 commonName VAR_043073 VAR_043073 disease phenotype-associated VAR_043073 phenoCommon Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600] VAR_043074 commonName VAR_043074 VAR_043074 disease not phenotype-associated VAR_043075 commonName VAR_043075 VAR_043076 commonName VAR_043076 VAR_043078 commonName VAR_043078 VAR_043078 disease not phenotype-associated VAR_043079 commonName VAR_043079 VAR_043079 disease not phenotype-associated VAR_043080 commonName VAR_043080 VAR_043080 disease phenotype-associated VAR_043080 phenoCommon Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347] VAR_043081 commonName VAR_043081 VAR_043081 disease phenotype-associated VAR_043081 phenoCommon Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480] VAR_043082 commonName VAR_043082 VAR_043082 disease phenotype-associated VAR_043082 phenoCommon Gallbladder disease type 1 (GBD1) [MIM:600803] VAR_043083 commonName VAR_043083 VAR_043083 disease phenotype-associated VAR_043083 phenoCommon Gallbladder disease type 1 (GBD1) [MIM:600803] VAR_043084 commonName VAR_043084 VAR_043084 disease phenotype-associated VAR_043084 phenoCommon Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347] VAR_043085 commonName VAR_043085 VAR_043085 disease not phenotype-associated VAR_043086 commonName VAR_043086 VAR_043086 disease phenotype-associated VAR_043086 phenoCommon Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347] VAR_043087 commonName VAR_043087 VAR_043087 disease phenotype-associated VAR_043087 phenoCommon Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347] VAR_043088 commonName VAR_043088 VAR_043088 disease phenotype-associated VAR_043088 phenoCommon Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347] VAR_043089 commonName VAR_043089 VAR_043089 disease not phenotype-associated VAR_043090 commonName VAR_043090 VAR_043090 disease not phenotype-associated VAR_043091 commonName VAR_043091 VAR_043091 disease phenotype-associated VAR_043091 phenoCommon Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347] VAR_043092 commonName VAR_043092 VAR_043092 disease phenotype-associated VAR_043092 phenoCommon Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347] VAR_043093 commonName VAR_043093 VAR_043093 disease phenotype-associated VAR_043093 phenoCommon Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347] VAR_043094 commonName VAR_043094 VAR_043094 disease phenotype-associated VAR_043094 phenoCommon Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347] VAR_043095 commonName VAR_043095 VAR_043095 disease not phenotype-associated VAR_043096 commonName VAR_043096 VAR_043096 disease phenotype-associated VAR_043096 phenoCommon Gallbladder disease type 1 (GBD1) [MIM:600803] VAR_043097 commonName VAR_043097 VAR_043097 disease phenotype-associated VAR_043097 phenoCommon Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347] VAR_043098 commonName VAR_043098 VAR_043098 disease not phenotype-associated VAR_043099 commonName VAR_043099 VAR_043099 disease phenotype-associated VAR_043099 phenoCommon Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480] VAR_043100 commonName VAR_043100 VAR_043101 commonName VAR_043101 VAR_043101 disease not phenotype-associated VAR_043102 commonName VAR_043102 VAR_043102 disease phenotype-associated VAR_043102 phenoCommon Gallbladder disease type 1 (GBD1) [MIM:600803] VAR_043103 commonName VAR_043103 VAR_043103 disease phenotype-associated VAR_043103 phenoCommon Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347] VAR_043104 commonName VAR_043104 VAR_043106 commonName VAR_043106 VAR_043106 disease phenotype-associated VAR_043106 phenoCommon Arginosuccinic aciduria (ARGINSA) [MIM:207900] VAR_043107 commonName VAR_043107 VAR_043107 disease phenotype-associated VAR_043107 phenoCommon Arginosuccinic aciduria (ARGINSA) [MIM:207900] VAR_043108 commonName VAR_043108 VAR_043108 disease phenotype-associated VAR_043108 phenoCommon Arginosuccinic aciduria (ARGINSA) [MIM:207900] VAR_043109 commonName VAR_043109 VAR_043109 disease phenotype-associated VAR_043109 phenoCommon Arginosuccinic aciduria (ARGINSA) [MIM:207900] VAR_043110 commonName VAR_043110 VAR_043110 disease phenotype-associated VAR_043110 phenoCommon Arginosuccinic aciduria (ARGINSA) [MIM:207900] VAR_043111 commonName VAR_043111 VAR_043111 disease phenotype-associated VAR_043111 phenoCommon Arginosuccinic aciduria (ARGINSA) [MIM:207900] VAR_043112 commonName VAR_043112 VAR_043112 disease phenotype-associated VAR_043112 phenoCommon Arginosuccinic aciduria (ARGINSA) [MIM:207900] VAR_043113 commonName VAR_043113 VAR_043113 disease phenotype-associated VAR_043113 phenoCommon Aminoacylase-1 deficiency (ACY1D) [MIM:609924] VAR_043114 commonName VAR_043114 VAR_043114 disease phenotype-associated VAR_043114 phenoCommon Aminoacylase-1 deficiency (ACY1D) [MIM:609924] VAR_043115 commonName VAR_043115 VAR_043115 disease not phenotype-associated VAR_043116 commonName VAR_043116 VAR_043116 disease not phenotype-associated VAR_043117 commonName VAR_043117 VAR_043117 disease not phenotype-associated VAR_043118 commonName VAR_043118 VAR_043118 disease not phenotype-associated VAR_043119 commonName VAR_043119 VAR_043119 disease not phenotype-associated VAR_043120 commonName VAR_043120 VAR_043120 disease not phenotype-associated VAR_043121 commonName VAR_043121 VAR_043121 disease not phenotype-associated VAR_043122 commonName VAR_043122 VAR_043122 disease not phenotype-associated VAR_043123 commonName VAR_043123 VAR_043123 disease not phenotype-associated VAR_043124 commonName VAR_043124 VAR_043124 disease not phenotype-associated VAR_043126 commonName VAR_043126 VAR_043126 disease not phenotype-associated VAR_043127 commonName VAR_043127 VAR_043127 disease not phenotype-associated VAR_043128 commonName VAR_043128 VAR_043128 disease not phenotype-associated VAR_043129 commonName VAR_043129 VAR_043129 disease not phenotype-associated VAR_043130 commonName VAR_043130 VAR_043130 disease not phenotype-associated VAR_043133 commonName VAR_043133 VAR_043133 disease not phenotype-associated VAR_043134 commonName VAR_043134 VAR_043134 disease not phenotype-associated VAR_043135 commonName VAR_043135 VAR_043135 disease not phenotype-associated VAR_043136 commonName VAR_043136 VAR_043136 disease not phenotype-associated VAR_043137 commonName VAR_043137 VAR_043137 disease not phenotype-associated VAR_043138 commonName VAR_043138 VAR_043138 disease not phenotype-associated VAR_043139 commonName VAR_043139 VAR_043139 disease not phenotype-associated VAR_043140 commonName VAR_043140 VAR_043140 disease not phenotype-associated VAR_043141 commonName VAR_043141 VAR_043141 disease not phenotype-associated VAR_043142 commonName VAR_043142 VAR_043142 disease not phenotype-associated VAR_043143 commonName VAR_043143 VAR_043143 disease not phenotype-associated VAR_043144 commonName VAR_043144 VAR_043144 disease not phenotype-associated VAR_043145 commonName VAR_043145 VAR_043145 disease not phenotype-associated VAR_043146 commonName VAR_043146 VAR_043146 disease not phenotype-associated VAR_043147 commonName VAR_043147 VAR_043147 disease not phenotype-associated VAR_043148 commonName VAR_043148 VAR_043148 disease not phenotype-associated VAR_043149 comment A breast cancer sample VAR_043149 commonName VAR_043149 VAR_043150 commonName VAR_043150 VAR_043150 disease not phenotype-associated VAR_043151 commonName VAR_043151 VAR_043151 disease phenotype-associated VAR_043151 phenoCommon Generalized epilepsy with febrile seizures plus type 5 (GEFS+5) [MIM:613060] VAR_043152 commonName VAR_043152 VAR_043152 disease not phenotype-associated VAR_043153 commonName VAR_043153 VAR_043153 disease not phenotype-associated VAR_043154 commonName VAR_043154 VAR_043155 commonName VAR_043155 VAR_043156 commonName VAR_043156 VAR_043156 disease not phenotype-associated VAR_043157 commonName VAR_043157 VAR_043157 disease phenotype-associated VAR_043157 phenoCommon Juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770] VAR_043158 commonName VAR_043158 VAR_043159 commonName VAR_043159 VAR_043159 disease not phenotype-associated VAR_043160 commonName VAR_043160 VAR_043160 disease not phenotype-associated VAR_043161 commonName VAR_043161 VAR_043161 disease not phenotype-associated VAR_043162 commonName VAR_043162 VAR_043162 disease not phenotype-associated VAR_043163 commonName VAR_043163 VAR_043163 disease not phenotype-associated VAR_043166 commonName VAR_043166 VAR_043166 disease not phenotype-associated VAR_043167 commonName VAR_043167 VAR_043167 disease not phenotype-associated VAR_043168 commonName VAR_043168 VAR_043168 disease not phenotype-associated VAR_043169 commonName VAR_043169 VAR_043169 disease not phenotype-associated VAR_043172 commonName VAR_043172 VAR_043172 disease phenotype-associated VAR_043172 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043173 commonName VAR_043173 VAR_043173 disease phenotype-associated VAR_043173 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043174 commonName VAR_043174 VAR_043174 disease phenotype-associated VAR_043174 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043175 commonName VAR_043175 VAR_043175 disease phenotype-associated VAR_043175 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043176 commonName VAR_043176 VAR_043176 disease phenotype-associated VAR_043176 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043177 commonName VAR_043177 VAR_043177 disease not phenotype-associated VAR_043178 commonName VAR_043178 VAR_043178 disease phenotype-associated VAR_043178 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043179 commonName VAR_043179 VAR_043179 disease phenotype-associated VAR_043179 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043180 commonName VAR_043180 VAR_043180 disease phenotype-associated VAR_043180 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043181 commonName VAR_043181 VAR_043181 disease phenotype-associated VAR_043181 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043182 commonName VAR_043182 VAR_043182 disease phenotype-associated VAR_043182 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043183 commonName VAR_043183 VAR_043183 disease phenotype-associated VAR_043183 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043184 commonName VAR_043184 VAR_043184 disease phenotype-associated VAR_043184 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043185 commonName VAR_043185 VAR_043185 disease phenotype-associated VAR_043185 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043186 commonName VAR_043186 VAR_043187 commonName VAR_043187 VAR_043187 disease phenotype-associated VAR_043187 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043188 commonName VAR_043188 VAR_043188 disease phenotype-associated VAR_043188 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043189 commonName VAR_043189 VAR_043189 disease not phenotype-associated VAR_043190 commonName VAR_043190 VAR_043190 disease phenotype-associated VAR_043190 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043191 commonName VAR_043191 VAR_043191 disease phenotype-associated VAR_043191 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043192 commonName VAR_043192 VAR_043192 disease phenotype-associated VAR_043192 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043193 commonName VAR_043193 VAR_043193 disease phenotype-associated VAR_043193 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043194 commonName VAR_043194 VAR_043194 disease phenotype-associated VAR_043194 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043195 commonName VAR_043195 VAR_043195 disease phenotype-associated VAR_043195 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043196 commonName VAR_043196 VAR_043196 disease phenotype-associated VAR_043196 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043197 commonName VAR_043197 VAR_043197 disease phenotype-associated VAR_043197 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043198 commonName VAR_043198 VAR_043198 disease not phenotype-associated VAR_043199 commonName VAR_043199 VAR_043199 disease phenotype-associated VAR_043199 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043200 commonName VAR_043200 VAR_043200 disease phenotype-associated VAR_043200 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043201 commonName VAR_043201 VAR_043201 disease phenotype-associated VAR_043201 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043202 commonName VAR_043202 VAR_043202 disease phenotype-associated VAR_043202 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043203 commonName VAR_043203 VAR_043203 disease not phenotype-associated VAR_043204 commonName VAR_043204 VAR_043204 disease phenotype-associated VAR_043204 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043205 commonName VAR_043205 VAR_043205 disease phenotype-associated VAR_043205 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043206 commonName VAR_043206 VAR_043206 disease phenotype-associated VAR_043206 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043207 commonName VAR_043207 VAR_043207 disease phenotype-associated VAR_043207 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043208 commonName VAR_043208 VAR_043208 disease phenotype-associated VAR_043208 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043209 commonName VAR_043209 VAR_043209 disease phenotype-associated VAR_043209 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043210 commonName VAR_043210 VAR_043210 disease phenotype-associated VAR_043210 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043211 commonName VAR_043211 VAR_043211 disease phenotype-associated VAR_043211 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043212 commonName VAR_043212 VAR_043212 disease phenotype-associated VAR_043212 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043213 commonName VAR_043213 VAR_043213 disease phenotype-associated VAR_043213 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043214 commonName VAR_043214 VAR_043214 disease phenotype-associated VAR_043214 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043215 commonName VAR_043215 VAR_043215 disease phenotype-associated VAR_043215 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043216 commonName VAR_043216 VAR_043216 disease phenotype-associated VAR_043216 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043217 commonName VAR_043217 VAR_043217 disease phenotype-associated VAR_043217 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043218 commonName VAR_043218 VAR_043218 disease phenotype-associated VAR_043218 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043219 commonName VAR_043219 VAR_043219 disease phenotype-associated VAR_043219 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043220 commonName VAR_043220 VAR_043220 disease phenotype-associated VAR_043220 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043221 commonName VAR_043221 VAR_043221 disease phenotype-associated VAR_043221 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043222 commonName VAR_043222 VAR_043222 disease phenotype-associated VAR_043222 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043223 commonName VAR_043223 VAR_043223 disease phenotype-associated VAR_043223 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043224 commonName VAR_043224 VAR_043224 disease phenotype-associated VAR_043224 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043225 commonName VAR_043225 VAR_043225 disease phenotype-associated VAR_043225 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043226 commonName VAR_043226 VAR_043226 disease phenotype-associated VAR_043226 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043227 commonName VAR_043227 VAR_043227 disease phenotype-associated VAR_043227 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043228 commonName VAR_043228 VAR_043228 disease phenotype-associated VAR_043228 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043229 commonName VAR_043229 VAR_043229 disease phenotype-associated VAR_043229 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043230 commonName VAR_043230 VAR_043230 disease phenotype-associated VAR_043230 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043231 commonName VAR_043231 VAR_043231 disease phenotype-associated VAR_043231 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043232 commonName VAR_043232 VAR_043232 disease phenotype-associated VAR_043232 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043233 commonName VAR_043233 VAR_043233 disease phenotype-associated VAR_043233 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043234 commonName VAR_043234 VAR_043234 disease phenotype-associated VAR_043234 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043235 commonName VAR_043235 VAR_043235 disease phenotype-associated VAR_043235 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043236 commonName VAR_043236 VAR_043236 disease phenotype-associated VAR_043236 phenoCommon Niemann-Pick disease type C1 (NPC1) [MIM:257220] VAR_043303 commonName VAR_043303 VAR_043303 disease phenotype-associated VAR_043303 phenoCommon Niemann-Pick disease type C2 (NPDC2) [MIM:607625] VAR_043304 commonName VAR_043304 VAR_043304 disease phenotype-associated VAR_043304 phenoCommon Niemann-Pick disease type C2 (NPDC2) [MIM:607625] VAR_043305 commonName VAR_043305 VAR_043305 disease phenotype-associated VAR_043305 phenoCommon Niemann-Pick disease type C2 (NPDC2) [MIM:607625] VAR_043306 commonName VAR_043306 VAR_043306 disease phenotype-associated VAR_043306 phenoCommon Niemann-Pick disease type C2 (NPDC2) [MIM:607625] VAR_043307 commonName VAR_043307 VAR_043307 disease phenotype-associated VAR_043307 phenoCommon Niemann-Pick disease type C2 (NPDC2) [MIM:607625] VAR_043308 commonName VAR_043308 VAR_043308 disease not phenotype-associated VAR_043309 commonName VAR_043309 VAR_043309 disease not phenotype-associated VAR_043310 commonName VAR_043310 VAR_043310 disease not phenotype-associated VAR_043312 commonName VAR_043312 VAR_043312 disease not phenotype-associated VAR_043313 commonName VAR_043313 VAR_043313 disease not phenotype-associated VAR_043314 commonName VAR_043314 VAR_043314 disease not phenotype-associated VAR_043315 commonName VAR_043315 VAR_043315 disease not phenotype-associated VAR_043316 commonName VAR_043316 VAR_043316 disease not phenotype-associated VAR_043317 commonName VAR_043317 VAR_043317 disease not phenotype-associated VAR_043318 commonName VAR_043318 VAR_043318 disease not phenotype-associated VAR_043319 commonName VAR_043319 VAR_043319 disease not phenotype-associated VAR_043320 commonName VAR_043320 VAR_043320 disease not phenotype-associated VAR_043321 commonName VAR_043321 VAR_043321 disease not phenotype-associated VAR_043322 commonName VAR_043322 VAR_043322 disease not phenotype-associated VAR_043323 commonName VAR_043323 VAR_043323 disease not phenotype-associated VAR_043324 commonName VAR_043324 VAR_043324 disease not phenotype-associated VAR_043325 commonName VAR_043325 VAR_043326 commonName VAR_043326 VAR_043327 commonName VAR_043327 VAR_043327 disease not phenotype-associated VAR_043328 commonName VAR_043328 VAR_043328 disease not phenotype-associated VAR_043329 commonName VAR_043329 VAR_043329 disease not phenotype-associated VAR_043330 commonName VAR_043330 VAR_043330 disease not phenotype-associated VAR_043331 commonName VAR_043331 VAR_043331 disease not phenotype-associated VAR_043332 commonName VAR_043332 VAR_043332 disease not phenotype-associated VAR_043334 commonName VAR_043334 VAR_043334 disease not phenotype-associated VAR_043335 commonName VAR_043335 VAR_043335 disease not phenotype-associated VAR_043336 commonName VAR_043336 VAR_043336 disease not phenotype-associated VAR_043337 commonName VAR_043337 VAR_043337 disease not phenotype-associated VAR_043338 commonName VAR_043338 VAR_043338 disease not phenotype-associated VAR_043339 commonName VAR_043339 VAR_043339 disease not phenotype-associated VAR_043340 commonName VAR_043340 VAR_043340 disease not phenotype-associated VAR_043341 commonName VAR_043341 VAR_043341 disease not phenotype-associated VAR_043342 commonName VAR_043342 VAR_043342 disease not phenotype-associated VAR_043343 commonName VAR_043343 VAR_043343 disease not phenotype-associated VAR_043344 commonName VAR_043344 VAR_043344 disease not phenotype-associated VAR_043346 commonName VAR_043346 VAR_043346 disease not phenotype-associated VAR_043347 commonName VAR_043347 VAR_043347 disease not phenotype-associated VAR_043348 commonName VAR_043348 VAR_043348 disease not phenotype-associated VAR_043349 commonName VAR_043349 VAR_043349 disease phenotype-associated VAR_043349 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_043350 commonName VAR_043350 VAR_043350 disease phenotype-associated VAR_043350 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_043351 commonName VAR_043351 VAR_043351 disease phenotype-associated VAR_043351 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_043352 commonName VAR_043352 VAR_043352 disease phenotype-associated VAR_043352 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_043353 commonName VAR_043353 VAR_043353 disease phenotype-associated VAR_043353 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_043354 commonName VAR_043354 VAR_043354 disease phenotype-associated VAR_043354 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] VAR_043355 commonName VAR_043355 VAR_043355 disease phenotype-associated VAR_043355 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_043356 commonName VAR_043356 VAR_043356 disease phenotype-associated VAR_043357 commonName VAR_043357 VAR_043357 disease phenotype-associated VAR_043358 commonName VAR_043358 VAR_043359 commonName VAR_043359 VAR_043359 disease not phenotype-associated VAR_043360 commonName VAR_043360 VAR_043360 disease phenotype-associated VAR_043360 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_043361 commonName VAR_043361 VAR_043361 disease phenotype-associated VAR_043361 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_043362 commonName VAR_043362 VAR_043362 disease phenotype-associated VAR_043362 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_043363 commonName VAR_043363 VAR_043363 disease phenotype-associated VAR_043363 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_043364 commonName VAR_043364 VAR_043364 disease phenotype-associated VAR_043364 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] VAR_043364 phenoCommon Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] VAR_043365 commonName VAR_043365 VAR_043365 disease phenotype-associated VAR_043365 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_043366 commonName VAR_043366 VAR_043366 disease phenotype-associated VAR_043367 commonName VAR_043367 VAR_043367 disease not phenotype-associated VAR_043368 commonName VAR_043368 VAR_043368 disease phenotype-associated VAR_043369 commonName VAR_043369 VAR_043369 disease phenotype-associated VAR_043370 commonName VAR_043370 VAR_043370 disease phenotype-associated VAR_043371 commonName VAR_043371 VAR_043371 disease not phenotype-associated VAR_043372 commonName VAR_043372 VAR_043372 disease not phenotype-associated VAR_043373 commonName VAR_043373 VAR_043373 disease not phenotype-associated VAR_043374 commonName VAR_043374 VAR_043374 disease not phenotype-associated VAR_043378 commonName VAR_043378 VAR_043378 disease not phenotype-associated VAR_043379 commonName VAR_043379 VAR_043379 disease not phenotype-associated VAR_043380 commonName VAR_043380 VAR_043380 disease not phenotype-associated VAR_043381 commonName VAR_043381 VAR_043381 disease not phenotype-associated VAR_043383 commonName VAR_043383 VAR_043383 disease phenotype-associated VAR_043383 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_043384 commonName VAR_043384 VAR_043384 disease phenotype-associated VAR_043384 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_043385 commonName VAR_043385 VAR_043385 disease phenotype-associated VAR_043385 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_043386 commonName VAR_043386 VAR_043387 commonName VAR_043387 VAR_043388 commonName VAR_043388 VAR_043388 disease phenotype-associated VAR_043388 phenoCommon Mismatch repair cancer syndrome (MMRCS) [MIM:276300] VAR_043389 commonName VAR_043389 VAR_043389 disease phenotype-associated VAR_043389 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_043390 commonName VAR_043390 VAR_043390 disease phenotype-associated VAR_043390 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_043392 commonName VAR_043392 VAR_043392 disease phenotype-associated VAR_043392 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_043394 commonName VAR_043394 VAR_043394 disease phenotype-associated VAR_043394 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] HbVar.682 protEffect HBA2 80(EF8) Ala>Gly VAR_043395 comment Gastric cancer VAR_043395 commonName VAR_043395 VAR_043396 comment Gastric cancer VAR_043396 commonName VAR_043396 VAR_043397 commonName VAR_043397 VAR_043397 disease phenotype-associated VAR_043397 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_043398 commonName VAR_043398 VAR_043399 commonName VAR_043399 VAR_043399 disease phenotype-associated VAR_043399 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_043400 commonName VAR_043400 VAR_043400 disease phenotype-associated VAR_043400 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_043401 commonName VAR_043401 VAR_043402 commonName VAR_043402 VAR_043402 disease phenotype-associated VAR_043402 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_043403 commonName VAR_043403 VAR_043403 disease phenotype-associated VAR_043403 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_043404 commonName VAR_043404 VAR_043404 disease phenotype-associated VAR_043404 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_043405 commonName VAR_043405 VAR_043405 disease phenotype-associated VAR_043405 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_043406 commonName VAR_043406 VAR_043406 disease phenotype-associated VAR_043406 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_043409 commonName VAR_043409 VAR_043409 disease phenotype-associated VAR_043409 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_043410 commonName VAR_043410 VAR_043411 commonName VAR_043411 VAR_043412 commonName VAR_043412 VAR_043412 disease not phenotype-associated VAR_043413 commonName VAR_043413 VAR_043414 commonName VAR_043414 VAR_043414 disease phenotype-associated VAR_043414 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_043415 commonName VAR_043415 VAR_043415 disease phenotype-associated VAR_043415 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_043416 commonName VAR_043416 VAR_043416 disease phenotype-associated VAR_043416 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_043417 commonName VAR_043417 VAR_043417 disease phenotype-associated VAR_043417 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_043418 commonName VAR_043418 VAR_043418 disease phenotype-associated VAR_043418 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_043419 commonName VAR_043419 VAR_043419 disease phenotype-associated VAR_043419 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_043421 commonName VAR_043421 VAR_043424 comment Colorectal cancer VAR_043424 commonName VAR_043424 VAR_043425 commonName VAR_043425 VAR_043425 disease phenotype-associated VAR_043425 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_043426 commonName VAR_043426 VAR_043426 disease phenotype-associated VAR_043426 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_043427 comment Gastric cancer VAR_043427 commonName VAR_043427 VAR_043428 commonName VAR_043428 VAR_043428 disease phenotype-associated VAR_043428 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_043429 commonName VAR_043429 VAR_043429 disease phenotype-associated VAR_043429 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_043430 commonName VAR_043430 VAR_043431 commonName VAR_043431 VAR_043431 disease phenotype-associated VAR_043431 phenoCommon Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310] VAR_043432 commonName VAR_043432 VAR_043432 disease not phenotype-associated VAR_043434 commonName VAR_043434 VAR_043434 disease not phenotype-associated VAR_043439 commonName VAR_043439 VAR_043439 disease not phenotype-associated HbVar.682 commonName Hb J-Singapore VAR_043440 commonName VAR_043440 VAR_043440 disease not phenotype-associated VAR_043441 commonName VAR_043441 VAR_043441 disease not phenotype-associated VAR_043442 commonName VAR_043442 VAR_043442 disease not phenotype-associated VAR_043443 commonName VAR_043443 VAR_043443 disease not phenotype-associated VAR_043444 commonName VAR_043444 VAR_043444 disease not phenotype-associated VAR_043445 commonName VAR_043445 VAR_043445 disease not phenotype-associated VAR_043446 commonName VAR_043446 VAR_043446 disease not phenotype-associated VAR_043447 commonName VAR_043447 VAR_043447 disease not phenotype-associated VAR_043450 commonName VAR_043450 VAR_043450 disease not phenotype-associated VAR_043451 commonName VAR_043451 VAR_043451 disease not phenotype-associated VAR_043452 commonName VAR_043452 VAR_043452 disease not phenotype-associated VAR_043453 commonName VAR_043453 VAR_043453 disease phenotype-associated VAR_043453 phenoCommon Deafness autosomal recessive type 36 with or without vestibular involvement (DFNB36) [MIM:609006] VAR_043454 commonName VAR_043454 VAR_043454 disease phenotype-associated VAR_043454 phenoCommon Deafness autosomal recessive type 36 with or without vestibular involvement (DFNB36) [MIM:609006] VAR_043455 commonName VAR_043455 VAR_043455 disease phenotype-associated VAR_043455 phenoCommon Deafness autosomal recessive type 36 with or without vestibular involvement (DFNB36) [MIM:609006] VAR_043463 commonName VAR_043463 VAR_043463 disease not phenotype-associated VAR_043464 commonName VAR_043464 VAR_043464 disease not phenotype-associated VAR_043465 commonName VAR_043465 VAR_043465 disease not phenotype-associated VAR_043466 commonName VAR_043466 VAR_043466 disease not phenotype-associated VAR_043467 commonName VAR_043467 VAR_043467 disease not phenotype-associated VAR_043468 commonName VAR_043468 VAR_043468 disease not phenotype-associated VAR_043469 commonName VAR_043469 VAR_043469 disease not phenotype-associated VAR_043470 commonName VAR_043470 VAR_043470 disease not phenotype-associated VAR_043471 commonName VAR_043471 VAR_043471 disease not phenotype-associated VAR_043473 commonName VAR_043473 VAR_043473 disease not phenotype-associated VAR_043474 commonName VAR_043474 VAR_043474 disease not phenotype-associated VAR_043475 commonName VAR_043475 VAR_043475 disease not phenotype-associated VAR_043476 commonName VAR_043476 VAR_043476 disease not phenotype-associated VAR_043478 commonName VAR_043478 VAR_043478 disease not phenotype-associated VAR_043479 commonName VAR_043479 VAR_043479 disease not phenotype-associated VAR_043480 commonName VAR_043480 VAR_043480 disease not phenotype-associated VAR_043481 commonName VAR_043481 VAR_043481 disease not phenotype-associated VAR_043482 commonName VAR_043482 VAR_043482 disease not phenotype-associated VAR_043483 commonName VAR_043483 VAR_043483 disease not phenotype-associated VAR_043484 commonName VAR_043484 VAR_043484 disease phenotype-associated VAR_043484 phenoCommon Mental retardation X-linked type 94 (MRX94) [MIM:300699] VAR_043485 commonName VAR_043485 VAR_043485 disease phenotype-associated VAR_043485 phenoCommon Mental retardation X-linked type 94 (MRX94) [MIM:300699] VAR_043486 commonName VAR_043486 VAR_043486 disease phenotype-associated VAR_043486 phenoCommon Mental retardation X-linked type 94 (MRX94) [MIM:300699] VAR_043487 commonName VAR_043487 VAR_043487 disease phenotype-associated VAR_043487 phenoCommon Mental retardation X-linked type 94 (MRX94) [MIM:300699] VAR_043493 commonName VAR_043493 VAR_043493 disease phenotype-associated VAR_043493 phenoCommon Bestrophinopathy autosomal recessive (ARB) [MIM:611809] VAR_043494 commonName VAR_043494 VAR_043494 disease phenotype-associated VAR_043494 phenoCommon Bestrophinopathy autosomal recessive (ARB) [MIM:611809] VAR_043495 commonName VAR_043495 VAR_043495 disease phenotype-associated VAR_043495 phenoCommon Bestrophinopathy autosomal recessive (ARB) [MIM:611809] VAR_043496 commonName VAR_043496 VAR_043496 disease not phenotype-associated VAR_043497 commonName VAR_043497 VAR_043497 disease phenotype-associated VAR_043497 phenoCommon Rokitansky-Kuster-Hauser syndrome (RKH syndrome) [MIM:277000] VAR_043498 commonName VAR_043498 VAR_043498 disease phenotype-associated VAR_043498 phenoCommon Rokitansky-Kuster-Hauser syndrome (RKH syndrome) [MIM:277000] VAR_043499 commonName VAR_043499 VAR_043499 disease phenotype-associated VAR_043499 phenoCommon Female sex reversal with dysgenesis of kidneys, adrenals, and lungs (SERKAL) [MIM:611812] VAR_043500 commonName VAR_043500 VAR_043500 disease not phenotype-associated VAR_043501 commonName VAR_043501 VAR_043501 disease phenotype-associated VAR_043501 phenoCommon Spinal muscular atrophy X-linked type 2 (SMAX2) [MIM:301830] VAR_043502 commonName VAR_043502 VAR_043502 disease phenotype-associated VAR_043502 phenoCommon Spinal muscular atrophy X-linked type 2 (SMAX2) [MIM:301830] VAR_043509 commonName VAR_043509 VAR_043509 disease phenotype-associated VAR_043509 phenoCommon Snowflake vitreoretinal degeneration (SVD) [MIM:193230] VAR_043510 commonName VAR_043510 VAR_043510 disease not phenotype-associated VAR_043511 commonName VAR_043511 VAR_043511 disease not phenotype-associated VAR_043512 commonName VAR_043512 VAR_043512 disease not phenotype-associated VAR_043513 commonName VAR_043513 VAR_043513 disease phenotype-associated VAR_043513 phenoCommon Amyloidosis primary localized cutaneous type 1 (PLCA1) [MIM:105250] VAR_043514 commonName VAR_043514 VAR_043514 disease phenotype-associated VAR_043514 phenoCommon Amyloidosis primary localized cutaneous type 1 (PLCA1) [MIM:105250] VAR_043515 commonName VAR_043515 VAR_043515 disease not phenotype-associated VAR_043516 commonName VAR_043516 VAR_043516 disease not phenotype-associated VAR_043517 commonName VAR_043517 VAR_043517 disease not phenotype-associated VAR_043518 commonName VAR_043518 VAR_043519 commonName VAR_043519 VAR_043520 commonName VAR_043520 VAR_043521 commonName VAR_043521 VAR_043521 disease not phenotype-associated VAR_043522 commonName VAR_043522 VAR_043522 disease not phenotype-associated VAR_043523 commonName VAR_043523 VAR_043524 commonName VAR_043524 VAR_043524 disease not phenotype-associated VAR_043525 commonName VAR_043525 VAR_043525 disease not phenotype-associated VAR_043526 commonName VAR_043526 VAR_043526 disease not phenotype-associated VAR_043527 commonName VAR_043527 VAR_043531 commonName VAR_043531 VAR_043531 disease phenotype-associated VAR_043531 phenoCommon Non-syndromic orofacial cleft type 11 (OFC11) [MIM:600625] VAR_043532 commonName VAR_043532 VAR_043532 disease phenotype-associated VAR_043532 phenoCommon Microphthalmia syndromic type 6 (MCOPS6) [MIM:607932] VAR_043533 commonName VAR_043533 VAR_043534 commonName VAR_043534 VAR_043535 commonName VAR_043535 VAR_043535 disease not phenotype-associated VAR_043536 commonName VAR_043536 VAR_043536 disease not phenotype-associated VAR_043537 commonName VAR_043537 VAR_043537 disease not phenotype-associated VAR_043538 commonName VAR_043538 VAR_043538 disease not phenotype-associated VAR_043539 commonName VAR_043539 VAR_043539 disease not phenotype-associated VAR_043540 commonName VAR_043540 VAR_043540 disease not phenotype-associated VAR_043541 commonName VAR_043541 VAR_043541 disease not phenotype-associated VAR_043542 commonName VAR_043542 VAR_043542 disease not phenotype-associated VAR_043543 commonName VAR_043543 VAR_043543 disease not phenotype-associated VAR_043544 commonName VAR_043544 VAR_043544 disease not phenotype-associated VAR_043545 commonName VAR_043545 VAR_043545 disease not phenotype-associated VAR_043546 commonName VAR_043546 VAR_043546 disease not phenotype-associated VAR_043547 commonName VAR_043547 VAR_043547 disease not phenotype-associated VAR_043548 commonName VAR_043548 VAR_043548 disease not phenotype-associated VAR_043549 commonName VAR_043549 VAR_043549 disease not phenotype-associated VAR_043550 commonName VAR_043550 VAR_043550 disease not phenotype-associated VAR_043555 commonName VAR_043555 VAR_043555 disease not phenotype-associated VAR_043556 commonName VAR_043556 VAR_043556 disease not phenotype-associated VAR_043557 commonName VAR_043557 VAR_043557 disease not phenotype-associated VAR_043558 commonName VAR_043558 VAR_043558 disease not phenotype-associated VAR_043559 commonName VAR_043559 VAR_043559 disease not phenotype-associated VAR_043560 commonName VAR_043560 VAR_043560 disease not phenotype-associated VAR_043561 commonName VAR_043561 VAR_043561 disease not phenotype-associated VAR_043562 commonName VAR_043562 VAR_043562 disease not phenotype-associated VAR_043563 commonName VAR_043563 VAR_043563 disease not phenotype-associated VAR_043564 commonName VAR_043564 VAR_043564 disease not phenotype-associated VAR_043565 commonName VAR_043565 VAR_043565 disease not phenotype-associated VAR_043566 commonName VAR_043566 VAR_043566 disease not phenotype-associated VAR_043567 commonName VAR_043567 VAR_043567 disease not phenotype-associated VAR_043568 commonName VAR_043568 VAR_043568 disease not phenotype-associated VAR_043570 commonName VAR_043570 VAR_043570 disease not phenotype-associated VAR_043571 commonName VAR_043571 VAR_043571 disease not phenotype-associated VAR_043572 commonName VAR_043572 VAR_043572 disease not phenotype-associated VAR_043573 commonName VAR_043573 VAR_043573 disease not phenotype-associated VAR_043577 commonName VAR_043577 VAR_043577 disease not phenotype-associated VAR_043578 commonName VAR_043578 VAR_043578 disease not phenotype-associated VAR_043579 commonName VAR_043579 VAR_043579 disease not phenotype-associated VAR_043580 commonName VAR_043580 VAR_043580 disease not phenotype-associated VAR_043581 commonName VAR_043581 VAR_043581 disease not phenotype-associated VAR_043582 commonName VAR_043582 VAR_043582 disease not phenotype-associated VAR_043583 commonName VAR_043583 VAR_043583 disease not phenotype-associated VAR_043584 commonName VAR_043584 VAR_043584 disease not phenotype-associated VAR_043585 commonName VAR_043585 VAR_043585 disease not phenotype-associated VAR_043587 commonName VAR_043587 VAR_043587 disease not phenotype-associated VAR_043588 comment A colorectal cancer sample VAR_043588 commonName VAR_043588 VAR_043589 commonName VAR_043589 VAR_043589 disease not phenotype-associated VAR_043590 commonName VAR_043590 VAR_043590 disease not phenotype-associated VAR_043591 commonName VAR_043591 VAR_043591 disease not phenotype-associated VAR_043592 commonName VAR_043592 VAR_043592 disease not phenotype-associated VAR_043593 comment A colorectal cancer sample VAR_043593 commonName VAR_043593 VAR_043594 commonName VAR_043594 VAR_043594 disease not phenotype-associated VAR_043595 commonName VAR_043595 VAR_043595 disease not phenotype-associated VAR_043596 commonName VAR_043596 VAR_043596 disease not phenotype-associated VAR_043597 comment A breast cancer sample VAR_043597 commonName VAR_043597 VAR_043598 commonName VAR_043598 VAR_043598 disease not phenotype-associated VAR_043599 commonName VAR_043599 VAR_043599 disease not phenotype-associated VAR_043600 commonName VAR_043600 VAR_043600 disease not phenotype-associated VAR_043601 commonName VAR_043601 VAR_043601 disease not phenotype-associated VAR_043602 commonName VAR_043602 VAR_043602 disease not phenotype-associated VAR_043603 commonName VAR_043603 VAR_043603 disease not phenotype-associated VAR_043604 commonName VAR_043604 VAR_043604 disease not phenotype-associated VAR_043605 commonName VAR_043605 VAR_043605 disease not phenotype-associated VAR_043606 commonName VAR_043606 VAR_043606 disease not phenotype-associated VAR_043609 commonName VAR_043609 VAR_043609 disease not phenotype-associated VAR_043610 commonName VAR_043610 VAR_043610 disease not phenotype-associated VAR_043611 commonName VAR_043611 VAR_043611 disease not phenotype-associated VAR_043612 commonName VAR_043612 VAR_043612 disease not phenotype-associated VAR_043613 commonName VAR_043613 VAR_043613 disease not phenotype-associated VAR_043614 commonName VAR_043614 VAR_043614 disease not phenotype-associated VAR_043615 commonName VAR_043615 VAR_043615 disease not phenotype-associated VAR_043616 commonName VAR_043616 VAR_043616 disease not phenotype-associated VAR_043617 commonName VAR_043617 VAR_043617 disease not phenotype-associated VAR_043618 commonName VAR_043618 VAR_043618 disease not phenotype-associated VAR_043619 commonName VAR_043619 VAR_043619 disease not phenotype-associated VAR_043620 commonName VAR_043620 VAR_043620 disease not phenotype-associated VAR_043621 commonName VAR_043621 VAR_043621 disease not phenotype-associated VAR_043622 commonName VAR_043622 VAR_043622 disease not phenotype-associated VAR_043623 commonName VAR_043623 VAR_043623 disease not phenotype-associated VAR_043624 commonName VAR_043624 VAR_043624 disease not phenotype-associated VAR_043668 commonName VAR_043668 VAR_043668 disease not phenotype-associated VAR_043669 commonName VAR_043669 VAR_043669 disease not phenotype-associated VAR_043670 commonName VAR_043670 VAR_043670 disease not phenotype-associated VAR_043672 commonName VAR_043672 VAR_043672 disease not phenotype-associated VAR_043673 commonName VAR_043673 VAR_043673 disease not phenotype-associated VAR_043676 commonName VAR_043676 VAR_043676 disease not phenotype-associated VAR_043677 commonName VAR_043677 VAR_043677 disease not phenotype-associated VAR_043678 commonName VAR_043678 VAR_043678 disease not phenotype-associated VAR_043679 commonName VAR_043679 VAR_043679 disease phenotype-associated VAR_043679 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] VAR_043680 commonName VAR_043680 VAR_043680 disease phenotype-associated VAR_043680 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] VAR_043681 commonName VAR_043681 VAR_043681 disease phenotype-associated VAR_043681 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] VAR_043682 commonName VAR_043682 VAR_043682 disease phenotype-associated VAR_043682 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] VAR_043683 commonName VAR_043683 VAR_043683 disease phenotype-associated VAR_043683 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] VAR_043684 commonName VAR_043684 VAR_043684 disease phenotype-associated VAR_043684 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] VAR_043685 commonName VAR_043685 VAR_043685 disease phenotype-associated VAR_043685 phenoCommon Familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100] VAR_043686 commonName VAR_043686 VAR_043686 disease phenotype-associated VAR_043686 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] VAR_043687 commonName VAR_043687 VAR_043687 disease phenotype-associated VAR_043687 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] VAR_043688 commonName VAR_043688 VAR_043688 disease phenotype-associated VAR_043688 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] VAR_043689 commonName VAR_043689 VAR_043689 disease phenotype-associated VAR_043689 phenoCommon Familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100] VAR_043690 commonName VAR_043690 VAR_043690 disease phenotype-associated VAR_043690 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] VAR_043691 commonName VAR_043691 VAR_043691 disease phenotype-associated VAR_043691 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] VAR_043692 commonName VAR_043692 VAR_043692 disease phenotype-associated VAR_043692 phenoCommon Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] VAR_043693 commonName VAR_043693 VAR_043693 disease not phenotype-associated VAR_043694 commonName VAR_043694 VAR_043694 disease phenotype-associated VAR_043694 phenoCommon Sudden infant death syndrome (SIDS) [MIM:272120] VAR_043695 commonName VAR_043695 VAR_043695 disease phenotype-associated VAR_043695 phenoCommon Long QT syndrome type 9 (LQT9) [MIM:611818] VAR_043695 phenoCommon Sudden infant death syndrome (SIDS) [MIM:272120] VAR_043696 commonName VAR_043696 VAR_043696 disease phenotype-associated VAR_043696 phenoCommon Long QT syndrome type 9 (LQT9) [MIM:611818] VAR_043696 phenoCommon Sudden infant death syndrome (SIDS) [MIM:272120] VAR_043697 commonName VAR_043697 VAR_043697 disease phenotype-associated VAR_043697 phenoCommon Long QT syndrome type 9 (LQT9) [MIM:611818] VAR_043698 commonName VAR_043698 VAR_043698 disease phenotype-associated VAR_043698 phenoCommon Long QT syndrome type 9 (LQT9) [MIM:611818] VAR_043699 commonName VAR_043699 VAR_043699 disease phenotype-associated VAR_043699 phenoCommon Long QT syndrome type 9 (LQT9) [MIM:611818] VAR_043700 commonName VAR_043700 VAR_043700 disease phenotype-associated VAR_043700 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_043701 commonName VAR_043701 VAR_043701 disease phenotype-associated VAR_043701 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_043702 commonName VAR_043702 VAR_043702 disease phenotype-associated VAR_043702 phenoCommon Albinism oculocutaneous type 2 (OCA2) [MIM:203200] VAR_043703 commonName VAR_043703 VAR_043703 disease not phenotype-associated VAR_043704 commonName VAR_043704 VAR_043704 disease not phenotype-associated VAR_043705 commonName VAR_043705 VAR_043705 disease not phenotype-associated VAR_043706 commonName VAR_043706 VAR_043706 disease not phenotype-associated VAR_043707 commonName VAR_043707 VAR_043707 disease not phenotype-associated VAR_043713 commonName VAR_043713 VAR_043713 disease not phenotype-associated VAR_043714 commonName VAR_043714 VAR_043714 disease phenotype-associated VAR_043714 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] VAR_043715 commonName VAR_043715 VAR_043715 disease phenotype-associated VAR_043715 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] VAR_043716 commonName VAR_043716 VAR_043716 disease phenotype-associated VAR_043716 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] VAR_043717 commonName VAR_043717 VAR_043717 disease phenotype-associated VAR_043717 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] VAR_043718 commonName VAR_043718 VAR_043718 disease phenotype-associated VAR_043718 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] VAR_043719 commonName VAR_043719 VAR_043719 disease phenotype-associated VAR_043719 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] VAR_043720 commonName VAR_043720 VAR_043720 disease phenotype-associated VAR_043720 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] VAR_043721 commonName VAR_043721 VAR_043721 disease phenotype-associated VAR_043721 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] VAR_043722 commonName VAR_043722 VAR_043722 disease phenotype-associated VAR_043722 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] VAR_043723 commonName VAR_043723 VAR_043723 disease phenotype-associated VAR_043723 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] VAR_043724 commonName VAR_043724 VAR_043724 disease phenotype-associated VAR_043724 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] VAR_043725 commonName VAR_043725 VAR_043725 disease phenotype-associated VAR_043725 phenoCommon Dyskeratosis congenita autosomal recessive type 1 (DKCB1) [MIM:224230] VAR_043726 commonName VAR_043726 VAR_043726 disease not phenotype-associated VAR_043727 commonName VAR_043727 VAR_043727 disease not phenotype-associated VAR_043729 commonName VAR_043729 VAR_043729 disease not phenotype-associated VAR_043736 comment Colorectal cancer VAR_043736 commonName VAR_043736 VAR_043737 comment Gastric cancer VAR_043737 commonName VAR_043737 VAR_043738 commonName VAR_043738 VAR_043738 disease phenotype-associated VAR_043738 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043739 commonName VAR_043739 VAR_043740 commonName VAR_043740 VAR_043740 disease phenotype-associated VAR_043740 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043741 commonName VAR_043741 VAR_043741 disease phenotype-associated VAR_043741 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043743 commonName VAR_043743 VAR_043743 disease phenotype-associated VAR_043743 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043744 commonName VAR_043744 VAR_043744 disease phenotype-associated VAR_043744 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043745 commonName VAR_043745 VAR_043745 disease phenotype-associated VAR_043745 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043746 commonName VAR_043746 VAR_043746 disease phenotype-associated VAR_043746 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043747 commonName VAR_043747 VAR_043747 disease phenotype-associated VAR_043747 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043748 commonName VAR_043748 VAR_043748 disease phenotype-associated VAR_043748 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043749 commonName VAR_043749 VAR_043749 disease phenotype-associated VAR_043749 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043750 commonName VAR_043750 VAR_043751 commonName VAR_043751 VAR_043751 disease phenotype-associated VAR_043751 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043752 commonName VAR_043752 VAR_043752 disease phenotype-associated VAR_043752 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043753 commonName VAR_043753 VAR_043753 disease phenotype-associated VAR_043753 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043754 commonName VAR_043754 VAR_043755 commonName VAR_043755 VAR_043755 disease phenotype-associated VAR_043755 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043756 commonName VAR_043756 VAR_043757 commonName VAR_043757 VAR_043757 disease phenotype-associated VAR_043757 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043758 commonName VAR_043758 VAR_043759 commonName VAR_043759 VAR_043759 disease phenotype-associated VAR_043759 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043760 commonName VAR_043760 VAR_043761 commonName VAR_043761 VAR_043761 disease phenotype-associated VAR_043761 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043762 comment Colorectal cancer VAR_043762 commonName VAR_043762 VAR_043763 commonName VAR_043763 VAR_043763 disease phenotype-associated VAR_043763 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043764 commonName VAR_043764 VAR_043764 disease phenotype-associated VAR_043764 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043765 commonName VAR_043765 VAR_043765 disease phenotype-associated VAR_043765 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043767 commonName VAR_043767 VAR_043767 disease phenotype-associated VAR_043767 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043768 commonName VAR_043768 VAR_043768 disease phenotype-associated VAR_043768 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043769 commonName VAR_043769 VAR_043769 disease phenotype-associated VAR_043769 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043770 commonName VAR_043770 VAR_043770 disease phenotype-associated VAR_043770 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043771 commonName VAR_043771 VAR_043771 disease phenotype-associated VAR_043771 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043772 commonName VAR_043772 VAR_043772 disease phenotype-associated VAR_043772 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043773 commonName VAR_043773 VAR_043774 commonName VAR_043774 VAR_043774 disease phenotype-associated VAR_043774 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043775 commonName VAR_043775 VAR_043775 disease phenotype-associated VAR_043775 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043776 commonName VAR_043776 VAR_043776 disease phenotype-associated VAR_043776 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043777 commonName VAR_043777 VAR_043777 disease phenotype-associated VAR_043777 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043778 commonName VAR_043778 VAR_043778 disease phenotype-associated VAR_043778 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043779 commonName VAR_043779 VAR_043779 disease phenotype-associated VAR_043779 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043780 commonName VAR_043780 VAR_043780 disease phenotype-associated VAR_043780 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043781 commonName VAR_043781 VAR_043781 disease phenotype-associated VAR_043781 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043782 commonName VAR_043782 VAR_043782 disease phenotype-associated VAR_043782 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043783 commonName VAR_043783 VAR_043783 disease phenotype-associated VAR_043783 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_043796 commonName VAR_043796 VAR_043796 disease not phenotype-associated VAR_043797 commonName VAR_043797 VAR_043797 disease phenotype-associated VAR_043797 phenoCommon Mitochondrial DNA depletion syndrome type 7 (MTDPS7) [MIM:271245] VAR_043813 commonName VAR_043813 VAR_043813 disease not phenotype-associated VAR_043814 commonName VAR_043814 VAR_043814 disease not phenotype-associated VAR_043815 commonName VAR_043815 VAR_043815 disease not phenotype-associated VAR_043816 commonName VAR_043816 VAR_043816 disease not phenotype-associated VAR_043818 commonName VAR_043818 VAR_043818 disease not phenotype-associated VAR_043819 commonName VAR_043819 VAR_043820 commonName VAR_043820 VAR_043820 disease phenotype-associated VAR_043820 phenoCommon Familial hemiplegic migraine type 1 (FHM1) [MIM:141500] VAR_043821 commonName VAR_043821 VAR_043821 disease phenotype-associated VAR_043821 phenoCommon Familial hemiplegic migraine type 1 (FHM1) [MIM:141500] VAR_043822 commonName VAR_043822 VAR_043822 disease phenotype-associated VAR_043822 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500] VAR_043823 commonName VAR_043823 VAR_043823 disease phenotype-associated VAR_043823 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500] VAR_043824 commonName VAR_043824 VAR_043824 disease phenotype-associated VAR_043824 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500] VAR_043825 commonName VAR_043825 VAR_043825 disease phenotype-associated VAR_043825 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500] VAR_043825 phenoCommon Spinocerebellar ataxia type 6 (SCA6) [MIM:183086] VAR_043826 commonName VAR_043826 VAR_043826 disease phenotype-associated VAR_043826 phenoCommon Familial hemiplegic migraine type 1 (FHM1) [MIM:141500] VAR_043827 commonName VAR_043827 VAR_043827 disease phenotype-associated VAR_043827 phenoCommon Familial hemiplegic migraine type 1 (FHM1) [MIM:141500] VAR_043828 commonName VAR_043828 VAR_043828 disease not phenotype-associated VAR_043829 commonName VAR_043829 VAR_043829 disease phenotype-associated VAR_043829 phenoCommon Familial hemiplegic migraine type 1 (FHM1) [MIM:141500] VAR_043830 commonName VAR_043830 VAR_043830 disease phenotype-associated VAR_043830 phenoCommon Familial hemiplegic migraine type 1 (FHM1) [MIM:141500] VAR_043831 commonName VAR_043831 VAR_043831 disease phenotype-associated VAR_043831 phenoCommon Familial hemiplegic migraine type 1 (FHM1) [MIM:141500] VAR_043832 commonName VAR_043832 VAR_043832 disease phenotype-associated VAR_043832 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500] VAR_043833 commonName VAR_043833 VAR_043833 disease phenotype-associated VAR_043833 phenoCommon Familial hemiplegic migraine type 1 (FHM1) [MIM:141500] VAR_043834 commonName VAR_043834 VAR_043834 disease phenotype-associated VAR_043834 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500] VAR_043835 commonName VAR_043835 VAR_043835 disease phenotype-associated VAR_043835 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500] VAR_043836 commonName VAR_043836 VAR_043836 disease phenotype-associated VAR_043836 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500] VAR_043837 commonName VAR_043837 VAR_043837 disease phenotype-associated VAR_043837 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500] VAR_043838 commonName VAR_043838 VAR_043838 disease phenotype-associated VAR_043838 phenoCommon Familial hemiplegic migraine type 1 (FHM1) [MIM:141500] VAR_043839 commonName VAR_043839 VAR_043839 disease phenotype-associated VAR_043839 phenoCommon Familial hemiplegic migraine type 1 (FHM1) [MIM:141500] VAR_043840 commonName VAR_043840 VAR_043840 disease phenotype-associated VAR_043840 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500] VAR_043841 commonName VAR_043841 VAR_043841 disease phenotype-associated VAR_043841 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500] VAR_043842 commonName VAR_043842 VAR_043842 disease phenotype-associated VAR_043842 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500] VAR_043844 commonName VAR_043844 VAR_043844 disease phenotype-associated VAR_043844 phenoCommon Methylmalonic aciduria and homocystinuria type cblD (MMAHCD) [MIM:277410] VAR_043846 commonName VAR_043846 VAR_043846 disease phenotype-associated VAR_043846 phenoCommon Methylmalonic aciduria and homocystinuria type cblD (MMAHCD) [MIM:277410] VAR_043847 commonName VAR_043847 VAR_043847 disease phenotype-associated VAR_043847 phenoCommon Methylmalonic aciduria and homocystinuria type cblD (MMAHCD) [MIM:277410] VAR_043848 comment A colorectal cancer sample VAR_043848 commonName VAR_043848 VAR_043849 commonName VAR_043849 VAR_043849 disease not phenotype-associated VAR_043850 commonName VAR_043850 VAR_043850 disease not phenotype-associated VAR_043851 commonName VAR_043851 VAR_043851 disease not phenotype-associated VAR_043852 commonName VAR_043852 VAR_043852 disease not phenotype-associated VAR_043853 commonName VAR_043853 VAR_043853 disease not phenotype-associated VAR_043854 commonName VAR_043854 VAR_043854 disease not phenotype-associated VAR_043855 commonName VAR_043855 VAR_043855 disease not phenotype-associated VAR_043856 commonName VAR_043856 VAR_043856 disease not phenotype-associated VAR_043857 commonName VAR_043857 VAR_043857 disease not phenotype-associated VAR_043858 commonName VAR_043858 VAR_043858 disease not phenotype-associated VAR_043859 commonName VAR_043859 VAR_043859 disease not phenotype-associated VAR_043860 commonName VAR_043860 VAR_043860 disease not phenotype-associated VAR_043861 commonName VAR_043861 VAR_043861 disease not phenotype-associated VAR_043862 commonName VAR_043862 VAR_043862 disease not phenotype-associated VAR_043863 commonName VAR_043863 VAR_043863 disease not phenotype-associated VAR_043864 commonName VAR_043864 VAR_043864 disease not phenotype-associated VAR_043865 commonName VAR_043865 VAR_043865 disease not phenotype-associated VAR_043866 commonName VAR_043866 VAR_043866 disease not phenotype-associated VAR_043867 commonName VAR_043867 VAR_043867 disease not phenotype-associated VAR_043868 commonName VAR_043868 VAR_043868 disease not phenotype-associated VAR_043870 commonName VAR_043870 VAR_043870 disease not phenotype-associated VAR_043871 commonName VAR_043871 VAR_043871 disease not phenotype-associated VAR_043872 commonName VAR_043872 VAR_043872 disease not phenotype-associated VAR_043873 commonName VAR_043873 VAR_043873 disease not phenotype-associated VAR_043878 commonName VAR_043878 VAR_043878 disease not phenotype-associated VAR_043879 commonName VAR_043879 VAR_043879 disease not phenotype-associated VAR_043880 commonName VAR_043880 VAR_043880 disease not phenotype-associated VAR_043881 commonName VAR_043881 VAR_043881 disease not phenotype-associated VAR_043882 commonName VAR_043882 VAR_043882 disease not phenotype-associated VAR_043883 commonName VAR_043883 VAR_043883 disease not phenotype-associated VAR_043884 commonName VAR_043884 VAR_043884 disease not phenotype-associated VAR_043885 commonName VAR_043885 VAR_043885 disease not phenotype-associated VAR_043886 commonName VAR_043886 VAR_043886 disease not phenotype-associated VAR_043887 commonName VAR_043887 VAR_043887 disease not phenotype-associated VAR_043888 commonName VAR_043888 VAR_043888 disease not phenotype-associated VAR_043889 commonName VAR_043889 VAR_043889 disease not phenotype-associated VAR_043890 commonName VAR_043890 VAR_043890 disease not phenotype-associated VAR_043891 commonName VAR_043891 VAR_043891 disease not phenotype-associated VAR_043892 commonName VAR_043892 VAR_043892 disease not phenotype-associated VAR_043893 commonName VAR_043893 VAR_043894 commonName VAR_043894 VAR_043894 disease not phenotype-associated VAR_043895 commonName VAR_043895 VAR_043896 commonName VAR_043896 VAR_043896 disease not phenotype-associated VAR_043897 commonName VAR_043897 VAR_043897 disease not phenotype-associated VAR_043898 commonName VAR_043898 VAR_043898 disease phenotype-associated VAR_043898 phenoCommon Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931] VAR_043899 commonName VAR_043899 VAR_043899 disease phenotype-associated VAR_043899 phenoCommon Fetal akinesia deformation sequence (FADS) [MIM:208150] VAR_043900 commonName VAR_043900 VAR_043900 disease phenotype-associated VAR_043900 phenoCommon Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931] VAR_043901 commonName VAR_043901 VAR_043901 disease phenotype-associated VAR_043901 phenoCommon Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931] VAR_043902 commonName VAR_043902 VAR_043902 disease phenotype-associated VAR_043902 phenoCommon Fetal akinesia deformation sequence (FADS) [MIM:208150] VAR_043903 commonName VAR_043903 VAR_043903 disease phenotype-associated VAR_043903 phenoCommon Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931] VAR_043904 commonName VAR_043904 VAR_043904 disease phenotype-associated VAR_043904 phenoCommon Multiple pterygium syndrome lethal type (MUPSL) [MIM:253290] VAR_043905 commonName VAR_043905 VAR_043905 disease phenotype-associated VAR_043905 phenoCommon Multiple pterygium syndrome lethal type (MUPSL) [MIM:253290] VAR_043906 commonName VAR_043906 VAR_043906 disease phenotype-associated VAR_043906 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110] VAR_043907 commonName VAR_043907 VAR_043907 disease phenotype-associated VAR_043907 phenoCommon Central precocious puberty (CEPREPU) [MIM:176400] VAR_043908 commonName VAR_043908 VAR_043908 disease not phenotype-associated VAR_043909 commonName VAR_043909 VAR_043909 disease not phenotype-associated VAR_043910 commonName VAR_043910 VAR_043912 commonName VAR_043912 VAR_043913 commonName VAR_043913 VAR_043914 commonName VAR_043914 VAR_043914 disease phenotype-associated VAR_043914 phenoCommon Dyskeratosis congenita autosomal dominant type 3 (DKCA3) [MIM:613990] VAR_043915 commonName VAR_043915 VAR_043915 disease phenotype-associated VAR_043915 phenoCommon Dyskeratosis congenita autosomal dominant type 3 (DKCA3) [MIM:613990] VAR_043915 phenoCommon Retinopathy exudative with bone marrow failure (ERBMF) [MIM:268130] VAR_043916 commonName VAR_043916 VAR_043916 disease phenotype-associated VAR_043916 phenoCommon Dyskeratosis congenita autosomal dominant type 3 (DKCA3) [MIM:613990] VAR_043924 commonName VAR_043924 VAR_043924 disease not phenotype-associated VAR_043925 commonName VAR_043925 VAR_043925 disease not phenotype-associated VAR_043926 commonName VAR_043926 VAR_043926 disease not phenotype-associated VAR_043927 commonName VAR_043927 VAR_043927 disease not phenotype-associated VAR_043928 commonName VAR_043928 VAR_043928 disease not phenotype-associated VAR_043932 commonName VAR_043932 VAR_043932 disease not phenotype-associated VAR_043933 commonName VAR_043933 VAR_043933 disease not phenotype-associated VAR_043938 comment A colorectal cancer sample VAR_043938 commonName VAR_043938 VAR_043939 commonName VAR_043939 VAR_043939 disease not phenotype-associated VAR_043940 commonName VAR_043940 VAR_043940 disease not phenotype-associated VAR_043941 commonName VAR_043941 VAR_043941 disease not phenotype-associated VAR_043942 commonName VAR_043942 VAR_043942 disease not phenotype-associated VAR_043943 comment Colorectal/endometrial cancer VAR_043943 commonName VAR_043943 VAR_043943 disease phenotype-associated VAR_043943 phenoCommon Hereditary non-polyposis colorectal cancer type 5 (HNPCC5) [MIM:614350] VAR_043944 commonName VAR_043944 VAR_043945 commonName VAR_043945 VAR_043946 commonName VAR_043946 VAR_043947 commonName VAR_043947 VAR_043948 comment Breast cancer VAR_043948 commonName VAR_043948 VAR_043949 comment Colorectal/endometrial cancer VAR_043949 commonName VAR_043949 VAR_043950 commonName VAR_043950 VAR_043950 disease not phenotype-associated VAR_043951 commonName VAR_043951 VAR_043952 commonName VAR_043952 VAR_043953 commonName VAR_043953 VAR_043954 commonName VAR_043954 VAR_043955 commonName VAR_043955 VAR_043956 commonName VAR_043956 VAR_043956 disease not phenotype-associated VAR_043957 commonName VAR_043957 VAR_043958 commonName VAR_043958 VAR_043958 disease phenotype-associated VAR_043958 phenoCommon Hereditary non-polyposis colorectal cancer type 5 (HNPCC5) [MIM:614350] VAR_043959 commonName VAR_043959 VAR_043960 commonName VAR_043960 VAR_043961 commonName VAR_043961 VAR_043962 comment Colorectal/endometrial cancer VAR_043962 commonName VAR_043962 VAR_043963 commonName VAR_043963 VAR_043964 commonName VAR_043964 VAR_043976 commonName VAR_043976 VAR_043976 disease not phenotype-associated VAR_043977 commonName VAR_043977 VAR_043977 disease not phenotype-associated VAR_043978 commonName VAR_043978 VAR_043978 disease not phenotype-associated VAR_043979 commonName VAR_043979 VAR_043979 disease not phenotype-associated VAR_043980 commonName VAR_043980 VAR_043980 disease not phenotype-associated VAR_043981 commonName VAR_043981 VAR_043981 disease not phenotype-associated VAR_043982 commonName VAR_043982 VAR_043982 disease not phenotype-associated VAR_043986 commonName VAR_043986 VAR_043986 disease phenotype-associated VAR_043986 phenoCommon Cardiomyopathy dilated type 1Y (CMD1Y) [MIM:611878] VAR_043987 commonName VAR_043987 VAR_043987 disease phenotype-associated VAR_043987 phenoCommon Cardiomyopathy dilated type 1Y (CMD1Y) [MIM:611878] VAR_043988 commonName VAR_043988 VAR_043988 disease phenotype-associated VAR_043988 phenoCommon Cardiomyopathy dilated type 1Z (CMD1Z) [MIM:611879] VAR_043989 commonName VAR_043989 VAR_043989 disease phenotype-associated VAR_043989 phenoCommon Cardiomyopathy dilated type 2A (CMD2A) [MIM:611880] VAR_043990 commonName VAR_043990 VAR_043990 disease not phenotype-associated VAR_043991 commonName VAR_043991 VAR_043991 disease not phenotype-associated VAR_043992 commonName VAR_043992 VAR_043992 disease not phenotype-associated VAR_043993 commonName VAR_043993 VAR_043993 disease not phenotype-associated VAR_044006 commonName VAR_044006 VAR_044006 disease not phenotype-associated VAR_044011 commonName VAR_044011 VAR_044011 disease not phenotype-associated VAR_044012 commonName VAR_044012 VAR_044012 disease not phenotype-associated VAR_044013 commonName VAR_044013 VAR_044013 disease not phenotype-associated VAR_044014 commonName VAR_044014 VAR_044014 disease not phenotype-associated VAR_044016 commonName VAR_044016 VAR_044016 disease not phenotype-associated VAR_044018 commonName VAR_044018 VAR_044018 disease not phenotype-associated VAR_044020 comment Sporadic cancers VAR_044020 commonName VAR_044020 VAR_044021 commonName VAR_044021 VAR_044021 disease not phenotype-associated VAR_044022 commonName VAR_044022 VAR_044022 disease not phenotype-associated VAR_044023 commonName VAR_044023 VAR_044023 disease not phenotype-associated VAR_044024 commonName VAR_044024 VAR_044024 disease not phenotype-associated VAR_044025 commonName VAR_044025 VAR_044025 disease not phenotype-associated VAR_044032 commonName VAR_044032 VAR_044032 disease not phenotype-associated VAR_044034 commonName VAR_044034 VAR_044034 disease not phenotype-associated VAR_044035 commonName VAR_044035 VAR_044035 disease not phenotype-associated VAR_044036 commonName VAR_044036 VAR_044036 disease not phenotype-associated VAR_044037 commonName VAR_044037 VAR_044037 disease not phenotype-associated VAR_044039 commonName VAR_044039 VAR_044039 disease phenotype-associated VAR_044039 phenoCommon Brugada syndrome type 3 (BRGDA3) [MIM:611875] VAR_044040 commonName VAR_044040 VAR_044040 disease phenotype-associated VAR_044040 phenoCommon Brugada syndrome type 3 (BRGDA3) [MIM:611875] VAR_044041 commonName VAR_044041 VAR_044041 disease phenotype-associated VAR_044041 phenoCommon Brugada syndrome type 4 (BRGDA4) [MIM:611876] VAR_044042 commonName VAR_044042 VAR_044042 disease not phenotype-associated VAR_044043 commonName VAR_044043 VAR_044043 disease not phenotype-associated VAR_044044 commonName VAR_044044 VAR_044044 disease phenotype-associated VAR_044044 phenoCommon Sudden infant death syndrome (SIDS) [MIM:272120] VAR_044045 commonName VAR_044045 VAR_044045 disease phenotype-associated VAR_044045 phenoCommon Sudden infant death syndrome (SIDS) [MIM:272120] VAR_044046 commonName VAR_044046 VAR_044046 disease phenotype-associated VAR_044046 phenoCommon Sudden infant death syndrome (SIDS) [MIM:272120] VAR_044047 commonName VAR_044047 VAR_044047 disease phenotype-associated VAR_044047 phenoCommon Brugada syndrome type 2 (BRGDA2) [MIM:611777] VAR_044048 commonName VAR_044048 VAR_044048 disease not phenotype-associated VAR_044049 commonName VAR_044049 VAR_044049 disease not phenotype-associated VAR_044050 commonName VAR_044050 VAR_044050 disease not phenotype-associated VAR_044051 commonName VAR_044051 VAR_044051 disease not phenotype-associated VAR_044052 commonName VAR_044052 VAR_044052 disease not phenotype-associated VAR_044053 commonName VAR_044053 VAR_044053 disease not phenotype-associated VAR_044054 commonName VAR_044054 VAR_044054 disease not phenotype-associated VAR_044055 commonName VAR_044055 VAR_044055 disease not phenotype-associated VAR_044056 commonName VAR_044056 VAR_044056 disease not phenotype-associated VAR_044057 commonName VAR_044057 VAR_044057 disease not phenotype-associated VAR_044058 commonName VAR_044058 VAR_044058 disease not phenotype-associated VAR_044059 commonName VAR_044059 VAR_044059 disease not phenotype-associated VAR_044060 commonName VAR_044060 VAR_044060 disease not phenotype-associated VAR_044061 commonName VAR_044061 VAR_044061 disease not phenotype-associated VAR_044062 commonName VAR_044062 VAR_044062 disease not phenotype-associated VAR_044063 commonName VAR_044063 VAR_044063 disease not phenotype-associated VAR_044066 commonName VAR_044066 VAR_044066 disease not phenotype-associated VAR_044067 commonName VAR_044067 VAR_044067 disease not phenotype-associated VAR_044082 commonName VAR_044082 VAR_044082 disease not phenotype-associated VAR_044083 commonName VAR_044083 VAR_044083 disease not phenotype-associated VAR_044084 commonName VAR_044084 VAR_044084 disease not phenotype-associated VAR_044086 commonName VAR_044086 VAR_044086 disease phenotype-associated VAR_044086 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_044087 commonName VAR_044087 VAR_044087 disease phenotype-associated VAR_044087 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_044087 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 2 (ARVD2) [MIM:600996] VAR_044088 commonName VAR_044088 VAR_044088 disease phenotype-associated VAR_044088 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_044089 commonName VAR_044089 VAR_044089 disease phenotype-associated VAR_044089 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_044090 commonName VAR_044090 VAR_044090 disease phenotype-associated VAR_044090 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_044091 commonName VAR_044091 VAR_044091 disease not phenotype-associated VAR_044092 commonName VAR_044092 VAR_044092 disease phenotype-associated VAR_044092 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_044093 commonName VAR_044093 VAR_044093 disease phenotype-associated VAR_044093 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_044094 commonName VAR_044094 VAR_044094 disease phenotype-associated VAR_044094 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_044095 commonName VAR_044095 VAR_044095 disease phenotype-associated VAR_044095 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_044096 commonName VAR_044096 VAR_044096 disease phenotype-associated VAR_044096 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_044096 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 2 (ARVD2) [MIM:600996] VAR_044097 commonName VAR_044097 VAR_044097 disease phenotype-associated VAR_044097 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_044098 commonName VAR_044098 VAR_044098 disease phenotype-associated VAR_044098 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_044099 commonName VAR_044099 VAR_044099 disease phenotype-associated VAR_044099 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_044100 commonName VAR_044100 VAR_044100 disease phenotype-associated VAR_044100 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_044101 commonName VAR_044101 VAR_044101 disease phenotype-associated VAR_044101 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_044102 commonName VAR_044102 VAR_044102 disease phenotype-associated VAR_044102 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_044103 commonName VAR_044103 VAR_044103 disease phenotype-associated VAR_044103 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_044104 commonName VAR_044104 VAR_044104 disease phenotype-associated VAR_044104 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_044105 commonName VAR_044105 VAR_044105 disease phenotype-associated VAR_044105 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_044106 commonName VAR_044106 VAR_044106 disease phenotype-associated VAR_044106 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_044107 commonName VAR_044107 VAR_044107 disease phenotype-associated VAR_044107 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_044108 commonName VAR_044108 VAR_044108 disease phenotype-associated VAR_044108 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_044109 commonName VAR_044109 VAR_044109 disease phenotype-associated VAR_044109 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_044110 commonName VAR_044110 VAR_044110 disease phenotype-associated VAR_044110 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_044111 commonName VAR_044111 VAR_044111 disease phenotype-associated VAR_044111 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_044112 commonName VAR_044112 VAR_044112 disease phenotype-associated VAR_044112 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_044113 commonName VAR_044113 VAR_044113 disease phenotype-associated VAR_044113 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772] VAR_044116 commonName VAR_044116 VAR_044116 disease not phenotype-associated VAR_044117 commonName VAR_044117 VAR_044117 disease not phenotype-associated VAR_044118 commonName VAR_044118 VAR_044118 disease phenotype-associated VAR_044118 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 2 (CPVT2) [MIM:611938] VAR_044119 commonName VAR_044119 VAR_044119 disease not phenotype-associated VAR_044121 commonName VAR_044121 VAR_044121 disease phenotype-associated VAR_044121 phenoCommon Renal-hepatic-pancreatic dysplasia (RHPD) [MIM:208540] VAR_044122 commonName VAR_044122 VAR_044122 disease not phenotype-associated VAR_044124 commonName VAR_044124 VAR_044124 disease not phenotype-associated VAR_044125 commonName VAR_044125 VAR_044125 disease not phenotype-associated VAR_044126 commonName VAR_044126 VAR_044126 disease not phenotype-associated VAR_044127 commonName VAR_044127 VAR_044127 disease not phenotype-associated VAR_044128 commonName VAR_044128 VAR_044128 disease not phenotype-associated VAR_044129 commonName VAR_044129 VAR_044129 disease not phenotype-associated VAR_044130 commonName VAR_044130 VAR_044130 disease not phenotype-associated VAR_044135 commonName VAR_044135 VAR_044135 disease not phenotype-associated VAR_044136 commonName VAR_044136 VAR_044136 disease not phenotype-associated VAR_044137 commonName VAR_044137 VAR_044137 disease not phenotype-associated VAR_044138 commonName VAR_044138 VAR_044138 disease not phenotype-associated VAR_044139 commonName VAR_044139 VAR_044139 disease not phenotype-associated VAR_044140 commonName VAR_044140 VAR_044140 disease not phenotype-associated VAR_044141 commonName VAR_044141 VAR_044141 disease not phenotype-associated VAR_044142 commonName VAR_044142 VAR_044142 disease phenotype-associated VAR_044142 phenoCommon Glycogen storage disease type 12 (GSD12) [MIM:611881] VAR_044143 commonName VAR_044143 VAR_044143 disease phenotype-associated VAR_044143 phenoCommon Glycogen storage disease type 12 (GSD12) [MIM:611881] VAR_044144 commonName VAR_044144 VAR_044144 disease phenotype-associated VAR_044144 phenoCommon Glycogen storage disease type 12 (GSD12) [MIM:611881] VAR_044145 commonName VAR_044145 VAR_044145 disease phenotype-associated VAR_044145 phenoCommon Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895] VAR_044146 commonName VAR_044146 VAR_044146 disease phenotype-associated VAR_044146 phenoCommon Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895] VAR_044147 commonName VAR_044147 VAR_044147 disease phenotype-associated VAR_044147 phenoCommon Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895] VAR_044148 commonName VAR_044148 VAR_044148 disease phenotype-associated VAR_044148 phenoCommon Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895] VAR_044149 commonName VAR_044149 VAR_044149 disease phenotype-associated VAR_044149 phenoCommon Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895] VAR_044150 commonName VAR_044150 VAR_044150 disease phenotype-associated VAR_044150 phenoCommon Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895] VAR_044151 commonName VAR_044151 VAR_044151 disease phenotype-associated VAR_044151 phenoCommon Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895] VAR_044152 commonName VAR_044152 VAR_044152 disease phenotype-associated VAR_044152 phenoCommon Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895] VAR_044153 commonName VAR_044153 VAR_044153 disease phenotype-associated VAR_044153 phenoCommon Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895] VAR_044154 commonName VAR_044154 VAR_044155 commonName VAR_044155 VAR_044155 disease phenotype-associated VAR_044155 phenoCommon Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895] VAR_044156 commonName VAR_044156 VAR_044156 disease phenotype-associated VAR_044156 phenoCommon Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895] VAR_044157 commonName VAR_044157 VAR_044157 disease phenotype-associated VAR_044157 phenoCommon Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895] VAR_044158 commonName VAR_044158 VAR_044158 disease not phenotype-associated VAR_044159 commonName VAR_044159 VAR_044159 disease phenotype-associated VAR_044159 phenoCommon Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773] VAR_044160 commonName VAR_044160 VAR_044160 disease phenotype-associated VAR_044160 phenoCommon Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773] VAR_044161 commonName VAR_044161 VAR_044161 disease phenotype-associated VAR_044161 phenoCommon Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773] VAR_044162 commonName VAR_044162 VAR_044163 commonName VAR_044163 VAR_044164 commonName VAR_044164 VAR_044164 disease not phenotype-associated VAR_044165 commonName VAR_044165 VAR_044165 disease not phenotype-associated VAR_044166 commonName VAR_044166 VAR_044166 disease not phenotype-associated VAR_044167 commonName VAR_044167 VAR_044167 disease not phenotype-associated VAR_044168 commonName VAR_044168 VAR_044168 disease phenotype-associated VAR_044168 phenoCommon Hyperekplexia type 3 (HKPX3) [MIM:614618] VAR_044169 commonName VAR_044169 VAR_044169 disease phenotype-associated VAR_044169 phenoCommon Hyperekplexia type 3 (HKPX3) [MIM:614618] VAR_044170 commonName VAR_044170 VAR_044170 disease not phenotype-associated VAR_044171 commonName VAR_044171 VAR_044171 disease phenotype-associated VAR_044171 phenoCommon Hyperekplexia type 3 (HKPX3) [MIM:614618] VAR_044172 commonName VAR_044172 VAR_044172 disease phenotype-associated VAR_044172 phenoCommon Hyperekplexia type 3 (HKPX3) [MIM:614618] VAR_044173 commonName VAR_044173 VAR_044173 disease not phenotype-associated VAR_044174 commonName VAR_044174 VAR_044174 disease phenotype-associated VAR_044174 phenoCommon Hyperekplexia type 3 (HKPX3) [MIM:614618] VAR_044175 commonName VAR_044175 VAR_044175 disease phenotype-associated VAR_044175 phenoCommon Hyperekplexia type 3 (HKPX3) [MIM:614618] VAR_044177 commonName VAR_044177 VAR_044177 disease not phenotype-associated VAR_044178 commonName VAR_044178 VAR_044178 disease not phenotype-associated VAR_044179 commonName VAR_044179 VAR_044179 disease not phenotype-associated VAR_044180 commonName VAR_044180 VAR_044180 disease not phenotype-associated VAR_044181 commonName VAR_044181 VAR_044181 disease not phenotype-associated VAR_044182 commonName VAR_044182 VAR_044182 disease not phenotype-associated VAR_044183 commonName VAR_044183 VAR_044183 disease not phenotype-associated VAR_044184 comment A colorectal cancer sample VAR_044184 commonName VAR_044184 VAR_044185 commonName VAR_044185 VAR_044185 disease not phenotype-associated VAR_044186 commonName VAR_044186 VAR_044186 disease not phenotype-associated VAR_044187 commonName VAR_044187 VAR_044187 disease not phenotype-associated VAR_044188 commonName VAR_044188 VAR_044188 disease not phenotype-associated VAR_044189 commonName VAR_044189 VAR_044189 disease not phenotype-associated VAR_044190 commonName VAR_044190 VAR_044190 disease not phenotype-associated VAR_044191 commonName VAR_044191 VAR_044191 disease not phenotype-associated VAR_044195 commonName VAR_044195 VAR_044195 disease not phenotype-associated VAR_044196 commonName VAR_044196 VAR_044196 disease not phenotype-associated VAR_044197 commonName VAR_044197 VAR_044197 disease not phenotype-associated VAR_044198 commonName VAR_044198 VAR_044198 disease not phenotype-associated VAR_044199 commonName VAR_044199 VAR_044199 disease not phenotype-associated VAR_044200 commonName VAR_044200 VAR_044200 disease not phenotype-associated VAR_044201 commonName VAR_044201 VAR_044201 disease not phenotype-associated VAR_044202 commonName VAR_044202 VAR_044202 disease not phenotype-associated VAR_044203 commonName VAR_044203 VAR_044203 disease not phenotype-associated VAR_044204 commonName VAR_044204 VAR_044204 disease not phenotype-associated VAR_044205 commonName VAR_044205 VAR_044205 disease not phenotype-associated VAR_044206 commonName VAR_044206 VAR_044206 disease not phenotype-associated VAR_044207 commonName VAR_044207 VAR_044207 disease not phenotype-associated VAR_044208 commonName VAR_044208 VAR_044208 disease not phenotype-associated VAR_044209 commonName VAR_044209 VAR_044209 disease not phenotype-associated VAR_044225 commonName VAR_044225 VAR_044225 disease not phenotype-associated VAR_044226 commonName VAR_044226 VAR_044226 disease phenotype-associated VAR_044226 phenoCommon Fechtner syndrome (FTNS) [MIM:153640] VAR_044227 commonName VAR_044227 VAR_044227 disease not phenotype-associated VAR_044229 commonName VAR_044229 VAR_044229 disease not phenotype-associated VAR_044230 commonName VAR_044230 VAR_044230 disease phenotype-associated VAR_044230 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044231 commonName VAR_044231 VAR_044231 disease phenotype-associated VAR_044231 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044232 commonName VAR_044232 VAR_044232 disease phenotype-associated VAR_044232 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044233 commonName VAR_044233 VAR_044233 disease phenotype-associated VAR_044233 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044234 commonName VAR_044234 VAR_044234 disease phenotype-associated VAR_044234 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044235 commonName VAR_044235 VAR_044235 disease phenotype-associated VAR_044235 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044236 commonName VAR_044236 VAR_044236 disease phenotype-associated VAR_044236 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044237 commonName VAR_044237 VAR_044237 disease phenotype-associated VAR_044237 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044240 commonName VAR_044240 VAR_044240 disease phenotype-associated VAR_044240 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044241 commonName VAR_044241 VAR_044241 disease phenotype-associated VAR_044241 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044242 commonName VAR_044242 VAR_044242 disease phenotype-associated VAR_044242 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044243 commonName VAR_044243 VAR_044243 disease phenotype-associated VAR_044243 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044244 commonName VAR_044244 VAR_044244 disease phenotype-associated VAR_044244 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044245 commonName VAR_044245 VAR_044245 disease phenotype-associated VAR_044245 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044246 commonName VAR_044246 VAR_044246 disease phenotype-associated VAR_044246 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044247 commonName VAR_044247 VAR_044247 disease phenotype-associated VAR_044247 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044248 commonName VAR_044248 VAR_044248 disease phenotype-associated VAR_044248 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044249 commonName VAR_044249 VAR_044249 disease phenotype-associated VAR_044249 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044250 commonName VAR_044250 VAR_044250 disease phenotype-associated VAR_044250 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044251 commonName VAR_044251 VAR_044251 disease phenotype-associated VAR_044251 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044252 commonName VAR_044252 VAR_044252 disease phenotype-associated VAR_044252 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044253 commonName VAR_044253 VAR_044253 disease phenotype-associated VAR_044253 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044254 commonName VAR_044254 VAR_044254 disease phenotype-associated VAR_044254 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044255 commonName VAR_044255 VAR_044255 disease phenotype-associated VAR_044255 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044256 commonName VAR_044256 VAR_044256 disease phenotype-associated VAR_044256 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044257 commonName VAR_044257 VAR_044257 disease phenotype-associated VAR_044257 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044258 commonName VAR_044258 VAR_044258 disease phenotype-associated VAR_044258 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044259 commonName VAR_044259 VAR_044259 disease phenotype-associated VAR_044259 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044261 commonName VAR_044261 VAR_044261 disease phenotype-associated VAR_044261 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044262 commonName VAR_044262 VAR_044262 disease phenotype-associated VAR_044262 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044263 commonName VAR_044263 VAR_044263 disease phenotype-associated VAR_044263 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044264 commonName VAR_044264 VAR_044264 disease phenotype-associated VAR_044264 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044265 commonName VAR_044265 VAR_044265 disease phenotype-associated VAR_044265 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044266 commonName VAR_044266 VAR_044266 disease phenotype-associated VAR_044266 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044267 commonName VAR_044267 VAR_044267 disease phenotype-associated VAR_044267 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044268 commonName VAR_044268 VAR_044268 disease phenotype-associated VAR_044268 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044269 commonName VAR_044269 VAR_044269 disease phenotype-associated VAR_044269 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044270 commonName VAR_044270 VAR_044270 disease phenotype-associated VAR_044270 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044271 commonName VAR_044271 VAR_044271 disease phenotype-associated VAR_044271 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044272 commonName VAR_044272 VAR_044272 disease phenotype-associated VAR_044272 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044273 commonName VAR_044273 VAR_044273 disease phenotype-associated VAR_044273 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044274 commonName VAR_044274 VAR_044274 disease phenotype-associated VAR_044274 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044275 commonName VAR_044275 VAR_044275 disease phenotype-associated VAR_044275 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044276 commonName VAR_044276 VAR_044276 disease phenotype-associated VAR_044276 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044277 commonName VAR_044277 VAR_044277 disease phenotype-associated VAR_044277 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044278 commonName VAR_044278 VAR_044278 disease phenotype-associated VAR_044278 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044279 commonName VAR_044279 VAR_044279 disease phenotype-associated VAR_044279 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044280 commonName VAR_044280 VAR_044280 disease phenotype-associated VAR_044280 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044281 commonName VAR_044281 VAR_044281 disease phenotype-associated VAR_044281 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044282 commonName VAR_044282 VAR_044282 disease phenotype-associated VAR_044282 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044284 commonName VAR_044284 VAR_044284 disease phenotype-associated VAR_044284 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044285 commonName VAR_044285 VAR_044285 disease phenotype-associated VAR_044285 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044286 commonName VAR_044286 VAR_044286 disease phenotype-associated VAR_044286 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044287 commonName VAR_044287 VAR_044287 disease phenotype-associated VAR_044287 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044288 commonName VAR_044288 VAR_044288 disease phenotype-associated VAR_044288 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044289 commonName VAR_044289 VAR_044289 disease phenotype-associated VAR_044289 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044290 commonName VAR_044290 VAR_044290 disease phenotype-associated VAR_044290 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044291 commonName VAR_044291 VAR_044291 disease phenotype-associated VAR_044291 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044292 commonName VAR_044292 VAR_044292 disease phenotype-associated VAR_044292 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044293 commonName VAR_044293 VAR_044293 disease phenotype-associated VAR_044293 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044294 commonName VAR_044294 VAR_044294 disease phenotype-associated VAR_044294 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044295 commonName VAR_044295 VAR_044295 disease phenotype-associated VAR_044295 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044296 commonName VAR_044296 VAR_044296 disease phenotype-associated VAR_044296 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044297 commonName VAR_044297 VAR_044297 disease phenotype-associated VAR_044297 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044298 commonName VAR_044298 VAR_044298 disease phenotype-associated VAR_044298 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044299 commonName VAR_044299 VAR_044299 disease phenotype-associated VAR_044299 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044300 commonName VAR_044300 VAR_044300 disease phenotype-associated VAR_044300 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044301 commonName VAR_044301 VAR_044301 disease phenotype-associated VAR_044301 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044302 commonName VAR_044302 VAR_044302 disease phenotype-associated VAR_044302 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044303 commonName VAR_044303 VAR_044303 disease phenotype-associated VAR_044303 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044304 commonName VAR_044304 VAR_044304 disease phenotype-associated VAR_044304 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044305 commonName VAR_044305 VAR_044305 disease phenotype-associated VAR_044305 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044306 commonName VAR_044306 VAR_044306 disease phenotype-associated VAR_044306 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044307 commonName VAR_044307 VAR_044307 disease phenotype-associated VAR_044307 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044308 commonName VAR_044308 VAR_044308 disease phenotype-associated VAR_044308 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044309 commonName VAR_044309 VAR_044309 disease phenotype-associated VAR_044309 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044310 commonName VAR_044310 VAR_044310 disease phenotype-associated VAR_044310 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044311 commonName VAR_044311 VAR_044311 disease phenotype-associated VAR_044311 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044312 commonName VAR_044312 VAR_044312 disease phenotype-associated VAR_044312 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044313 commonName VAR_044313 VAR_044313 disease phenotype-associated VAR_044313 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044314 commonName VAR_044314 VAR_044314 disease not phenotype-associated VAR_044315 commonName VAR_044315 VAR_044315 disease phenotype-associated VAR_044315 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044316 commonName VAR_044316 VAR_044316 disease phenotype-associated VAR_044316 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044317 commonName VAR_044317 VAR_044317 disease phenotype-associated VAR_044317 phenoCommon Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310] VAR_044319 commonName VAR_044319 VAR_044319 disease not phenotype-associated VAR_044321 commonName VAR_044321 VAR_044321 disease phenotype-associated VAR_044321 phenoCommon Charcot-Marie-Tooth disease type 4H (CMT4H) [MIM:609311] VAR_044322 commonName VAR_044322 VAR_044322 disease not phenotype-associated VAR_044325 comment A colorectal cancer sample VAR_044325 commonName VAR_044325 VAR_044326 commonName VAR_044326 VAR_044326 disease phenotype-associated VAR_044326 phenoCommon Woolly hair autosomal recessive type 1 with or without hypotrichosis (ARWH1) [MIM:278150] VAR_044327 commonName VAR_044327 VAR_044327 disease phenotype-associated VAR_044327 phenoCommon Woolly hair autosomal recessive type 1 with or without hypotrichosis (ARWH1) [MIM:278150] VAR_044328 commonName VAR_044328 VAR_044328 disease phenotype-associated VAR_044328 phenoCommon Woolly hair autosomal recessive type 1 with or without hypotrichosis (ARWH1) [MIM:278150] VAR_044329 commonName VAR_044329 VAR_044329 disease phenotype-associated VAR_044329 phenoCommon Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] VAR_044330 commonName VAR_044330 VAR_044330 disease not phenotype-associated VAR_044331 commonName VAR_044331 VAR_044331 disease not phenotype-associated VAR_044332 commonName VAR_044332 VAR_044332 disease not phenotype-associated VAR_044333 commonName VAR_044333 VAR_044333 disease not phenotype-associated VAR_044334 commonName VAR_044334 VAR_044334 disease phenotype-associated VAR_044334 phenoCommon Congenital disorder of glycosylation type 1N (CDG1N) [MIM:612015] VAR_044335 commonName VAR_044335 VAR_044335 disease not phenotype-associated VAR_044336 commonName VAR_044336 VAR_044336 disease not phenotype-associated VAR_044337 commonName VAR_044337 VAR_044337 disease not phenotype-associated VAR_044338 commonName VAR_044338 VAR_044338 disease not phenotype-associated VAR_044339 commonName VAR_044339 VAR_044339 disease not phenotype-associated VAR_044340 commonName VAR_044340 VAR_044340 disease not phenotype-associated VAR_044345 commonName VAR_044345 VAR_044345 disease not phenotype-associated VAR_044346 comment A colorectal cancer sample VAR_044346 commonName VAR_044346 VAR_044348 commonName VAR_044348 VAR_044348 disease not phenotype-associated VAR_044349 commonName VAR_044349 VAR_044349 disease not phenotype-associated VAR_044350 commonName VAR_044350 VAR_044350 disease not phenotype-associated VAR_044351 commonName VAR_044351 VAR_044351 disease not phenotype-associated VAR_044352 commonName VAR_044352 VAR_044352 disease not phenotype-associated VAR_044353 commonName VAR_044353 VAR_044353 disease not phenotype-associated VAR_044354 commonName VAR_044354 VAR_044354 disease not phenotype-associated VAR_044355 commonName VAR_044355 VAR_044355 disease not phenotype-associated VAR_044356 commonName VAR_044356 VAR_044356 disease not phenotype-associated VAR_044357 commonName VAR_044357 VAR_044357 disease not phenotype-associated VAR_044358 commonName VAR_044358 VAR_044358 disease not phenotype-associated VAR_044359 commonName VAR_044359 VAR_044359 disease not phenotype-associated VAR_044362 commonName VAR_044362 VAR_044362 disease not phenotype-associated VAR_044363 commonName VAR_044363 VAR_044363 disease not phenotype-associated VAR_044364 commonName VAR_044364 VAR_044364 disease not phenotype-associated VAR_044365 commonName VAR_044365 VAR_044365 disease not phenotype-associated VAR_044366 commonName VAR_044366 VAR_044366 disease not phenotype-associated VAR_044367 commonName VAR_044367 VAR_044367 disease not phenotype-associated VAR_044368 commonName VAR_044368 VAR_044368 disease not phenotype-associated VAR_044369 commonName VAR_044369 VAR_044369 disease not phenotype-associated VAR_044370 commonName VAR_044370 VAR_044370 disease not phenotype-associated VAR_044371 commonName VAR_044371 VAR_044371 disease not phenotype-associated VAR_044372 commonName VAR_044372 VAR_044373 commonName VAR_044373 VAR_044374 commonName VAR_044374 VAR_044374 disease not phenotype-associated VAR_044375 commonName VAR_044375 VAR_044375 disease not phenotype-associated VAR_044377 commonName VAR_044377 VAR_044377 disease not phenotype-associated VAR_044378 commonName VAR_044378 VAR_044378 disease not phenotype-associated VAR_044379 commonName VAR_044379 VAR_044379 disease not phenotype-associated VAR_044380 commonName VAR_044380 VAR_044380 disease not phenotype-associated VAR_044381 commonName VAR_044381 VAR_044381 disease not phenotype-associated VAR_044382 commonName VAR_044382 VAR_044382 disease phenotype-associated VAR_044382 phenoCommon Spastic paraplegia autosomal recessive type 5A (SPG5A) [MIM:270800] VAR_044383 commonName VAR_044383 VAR_044383 disease phenotype-associated VAR_044383 phenoCommon Spastic paraplegia autosomal recessive type 5A (SPG5A) [MIM:270800] VAR_044384 commonName VAR_044384 VAR_044384 disease phenotype-associated VAR_044384 phenoCommon Spastic paraplegia autosomal recessive type 5A (SPG5A) [MIM:270800] VAR_044385 commonName VAR_044385 VAR_044385 disease phenotype-associated VAR_044385 phenoCommon Spastic paraplegia autosomal recessive type 5A (SPG5A) [MIM:270800] VAR_044386 commonName VAR_044386 VAR_044386 disease phenotype-associated VAR_044386 phenoCommon Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095] VAR_044387 commonName VAR_044387 VAR_044387 disease not phenotype-associated VAR_044388 commonName VAR_044388 VAR_044388 disease phenotype-associated VAR_044388 phenoCommon Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095] VAR_044392 commonName VAR_044392 VAR_044392 disease phenotype-associated VAR_044392 phenoCommon Renal adysplasia (RADYS) [MIM:191830] VAR_044393 commonName VAR_044393 VAR_044393 disease phenotype-associated VAR_044393 phenoCommon Renal adysplasia (RADYS) [MIM:191830] VAR_044394 commonName VAR_044394 VAR_044394 disease phenotype-associated VAR_044394 phenoCommon Renal adysplasia (RADYS) [MIM:191830] VAR_044395 commonName VAR_044395 VAR_044395 disease phenotype-associated VAR_044395 phenoCommon Renal adysplasia (RADYS) [MIM:191830] VAR_044396 commonName VAR_044396 VAR_044396 disease phenotype-associated VAR_044396 phenoCommon Renal adysplasia (RADYS) [MIM:191830] VAR_044397 commonName VAR_044397 VAR_044397 disease phenotype-associated VAR_044397 phenoCommon Renal adysplasia (RADYS) [MIM:191830] VAR_044398 commonName VAR_044398 VAR_044398 disease phenotype-associated VAR_044398 phenoCommon Renal adysplasia (RADYS) [MIM:191830] VAR_044399 commonName VAR_044399 VAR_044399 disease not phenotype-associated VAR_044400 commonName VAR_044400 VAR_044400 disease phenotype-associated VAR_044400 phenoCommon Renal adysplasia (RADYS) [MIM:191830] VAR_044401 commonName VAR_044401 VAR_044401 disease phenotype-associated VAR_044401 phenoCommon Renal adysplasia (RADYS) [MIM:191830] VAR_044402 commonName VAR_044402 VAR_044402 disease phenotype-associated VAR_044402 phenoCommon Coenzyme Q10 deficiency, primary, type 4 (COQ10D4) [MIM:612016] VAR_044403 commonName VAR_044403 VAR_044403 disease phenotype-associated VAR_044403 phenoCommon Coenzyme Q10 deficiency, primary, type 4 (COQ10D4) [MIM:612016] VAR_044404 commonName VAR_044404 VAR_044404 disease phenotype-associated VAR_044404 phenoCommon Coenzyme Q10 deficiency, primary, type 4 (COQ10D4) [MIM:612016] VAR_044409 commonName VAR_044409 VAR_044409 disease phenotype-associated VAR_044409 phenoCommon Spastic paraplegia autosomal recessive type 39 (SPG39) [MIM:612020] VAR_044410 commonName VAR_044410 VAR_044410 disease phenotype-associated VAR_044410 phenoCommon Spastic paraplegia autosomal recessive type 39 (SPG39) [MIM:612020] VAR_044417 commonName VAR_044417 VAR_044417 disease not phenotype-associated VAR_044418 commonName VAR_044418 VAR_044418 disease not phenotype-associated VAR_044419 commonName VAR_044419 VAR_044419 disease not phenotype-associated VAR_044420 commonName VAR_044420 VAR_044420 disease not phenotype-associated VAR_044421 commonName VAR_044421 VAR_044421 disease not phenotype-associated VAR_044422 commonName VAR_044422 VAR_044422 disease not phenotype-associated VAR_044423 commonName VAR_044423 VAR_044423 disease not phenotype-associated VAR_044424 commonName VAR_044424 VAR_044424 disease phenotype-associated VAR_044424 phenoCommon Alzheimer disease type 1 (AD1) [MIM:104300] VAR_044425 commonName VAR_044425 VAR_044425 disease not phenotype-associated VAR_044426 commonName VAR_044426 VAR_044426 disease not phenotype-associated VAR_044427 commonName VAR_044427 VAR_044427 disease not phenotype-associated VAR_044428 commonName VAR_044428 VAR_044428 disease not phenotype-associated VAR_044429 commonName VAR_044429 VAR_044429 disease not phenotype-associated VAR_044430 commonName VAR_044430 VAR_044430 disease phenotype-associated VAR_044430 phenoCommon Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555] VAR_044432 commonName VAR_044432 VAR_044432 disease not phenotype-associated VAR_044434 commonName VAR_044434 VAR_044434 disease not phenotype-associated VAR_044435 commonName VAR_044435 VAR_044435 disease phenotype-associated VAR_044435 phenoCommon Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] VAR_044436 commonName VAR_044436 VAR_044436 disease phenotype-associated VAR_044436 phenoCommon Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] VAR_044437 commonName VAR_044437 VAR_044437 disease phenotype-associated VAR_044437 phenoCommon Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] VAR_044438 commonName VAR_044438 VAR_044438 disease phenotype-associated VAR_044438 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5) [MIM:604400] VAR_044439 commonName VAR_044439 VAR_044440 commonName VAR_044440 VAR_044440 disease phenotype-associated VAR_044440 phenoCommon Parkinson disease type 11 (PARK11) [MIM:607688] VAR_044441 commonName VAR_044441 VAR_044441 disease phenotype-associated VAR_044441 phenoCommon Parkinson disease type 11 (PARK11) [MIM:607688] VAR_044442 commonName VAR_044442 VAR_044442 disease phenotype-associated VAR_044442 phenoCommon Parkinson disease type 11 (PARK11) [MIM:607688] VAR_044443 commonName VAR_044443 VAR_044443 disease phenotype-associated VAR_044443 phenoCommon Parkinson disease type 11 (PARK11) [MIM:607688] VAR_044444 commonName VAR_044444 VAR_044444 disease not phenotype-associated VAR_044445 commonName VAR_044445 VAR_044445 disease phenotype-associated VAR_044445 phenoCommon Parkinson disease type 11 (PARK11) [MIM:607688] VAR_044450 commonName VAR_044450 VAR_044450 disease phenotype-associated VAR_044450 phenoCommon Thrombocytopenia type 4 (THC4) [MIM:612004] VAR_044451 commonName VAR_044451 VAR_044451 disease phenotype-associated VAR_044451 phenoCommon Ubiquitin-positive frontotemporal dementia (UP-FTD) [MIM:607485] VAR_044452 commonName VAR_044452 VAR_044452 disease phenotype-associated VAR_044452 phenoCommon Branchiootic syndrome type 1 (BOS1) [MIM:602588] VAR_044453 commonName VAR_044453 HbVar.682 ethnic Malay VAR_044453 disease not phenotype-associated VAR_044454 commonName VAR_044454 VAR_044454 disease phenotype-associated VAR_044454 phenoCommon Wilson disease (WD) [MIM:277900] VAR_044455 commonName VAR_044455 VAR_044455 disease phenotype-associated VAR_044455 phenoCommon Wilson disease (WD) [MIM:277900] VAR_044456 commonName VAR_044456 VAR_044456 disease phenotype-associated VAR_044456 phenoCommon Wilson disease (WD) [MIM:277900] VAR_044457 commonName VAR_044457 VAR_044457 disease phenotype-associated VAR_044457 phenoCommon Wilson disease (WD) [MIM:277900] VAR_044458 commonName VAR_044458 VAR_044458 disease phenotype-associated VAR_044458 phenoCommon Wilson disease (WD) [MIM:277900] VAR_044459 commonName VAR_044459 VAR_044459 disease phenotype-associated VAR_044459 phenoCommon Wilson disease (WD) [MIM:277900] VAR_044460 commonName VAR_044460 VAR_044460 disease phenotype-associated VAR_044460 phenoCommon Wilson disease (WD) [MIM:277900] VAR_044461 commonName VAR_044461 VAR_044461 disease phenotype-associated VAR_044461 phenoCommon Wilson disease (WD) [MIM:277900] VAR_044496 commonName VAR_044496 VAR_044496 disease not phenotype-associated VAR_044501 commonName VAR_044501 VAR_044501 disease not phenotype-associated VAR_044502 commonName VAR_044502 VAR_044502 disease not phenotype-associated VAR_044503 commonName VAR_044503 VAR_044503 disease not phenotype-associated VAR_044504 commonName VAR_044504 VAR_044505 commonName VAR_044505 VAR_044505 disease not phenotype-associated VAR_044506 commonName VAR_044506 VAR_044506 disease not phenotype-associated VAR_044507 commonName VAR_044507 VAR_044507 disease not phenotype-associated VAR_044508 commonName VAR_044508 VAR_044508 disease not phenotype-associated VAR_044509 commonName VAR_044509 VAR_044509 disease not phenotype-associated VAR_044510 commonName VAR_044510 VAR_044510 disease not phenotype-associated VAR_044511 commonName VAR_044511 VAR_044511 disease not phenotype-associated VAR_044512 commonName VAR_044512 VAR_044512 disease not phenotype-associated VAR_044513 commonName VAR_044513 VAR_044513 disease not phenotype-associated VAR_044514 commonName VAR_044514 VAR_044514 disease not phenotype-associated VAR_044515 commonName VAR_044515 VAR_044515 disease not phenotype-associated VAR_044516 commonName VAR_044516 VAR_044516 disease not phenotype-associated VAR_044517 commonName VAR_044517 VAR_044517 disease not phenotype-associated VAR_044518 commonName VAR_044518 VAR_044518 disease not phenotype-associated VAR_044519 commonName VAR_044519 VAR_044519 disease not phenotype-associated VAR_044520 commonName VAR_044520 VAR_044520 disease not phenotype-associated VAR_044521 commonName VAR_044521 VAR_044521 disease not phenotype-associated VAR_044522 commonName VAR_044522 VAR_044522 disease not phenotype-associated VAR_044523 commonName VAR_044523 VAR_044523 disease not phenotype-associated VAR_044524 commonName VAR_044524 VAR_044524 disease not phenotype-associated VAR_044525 commonName VAR_044525 VAR_044525 disease not phenotype-associated VAR_044526 commonName VAR_044526 VAR_044526 disease not phenotype-associated VAR_044527 commonName VAR_044527 VAR_044527 disease not phenotype-associated VAR_044528 commonName VAR_044528 VAR_044528 disease not phenotype-associated VAR_044529 commonName VAR_044529 VAR_044529 disease not phenotype-associated VAR_044530 commonName VAR_044530 VAR_044530 disease not phenotype-associated VAR_044531 commonName VAR_044531 VAR_044531 disease not phenotype-associated VAR_044532 commonName VAR_044532 VAR_044532 disease not phenotype-associated VAR_044533 commonName VAR_044533 VAR_044533 disease not phenotype-associated VAR_044534 commonName VAR_044534 VAR_044534 disease not phenotype-associated VAR_044535 commonName VAR_044535 VAR_044535 disease not phenotype-associated VAR_044536 commonName VAR_044536 VAR_044536 disease not phenotype-associated VAR_044537 commonName VAR_044537 VAR_044537 disease not phenotype-associated VAR_044538 commonName VAR_044538 VAR_044538 disease not phenotype-associated VAR_044541 commonName VAR_044541 VAR_044541 disease not phenotype-associated VAR_044542 commonName VAR_044542 VAR_044542 disease not phenotype-associated VAR_044543 comment A sporadic cancer VAR_044543 commonName VAR_044543 VAR_044544 comment A sporadic cancer VAR_044544 commonName VAR_044544 VAR_044545 comment A sporadic cancer VAR_044545 commonName VAR_044545 VAR_044546 comment A sporadic cancer VAR_044546 commonName VAR_044546 VAR_044547 comment Sporadic cancers VAR_044547 commonName VAR_044547 VAR_044548 comment Sporadic cancers VAR_044548 commonName VAR_044548 VAR_044549 comment A sporadic cancer VAR_044549 commonName VAR_044549 VAR_044550 comment A sporadic cancer VAR_044550 commonName VAR_044550 VAR_044551 comment A sporadic cancer VAR_044551 commonName VAR_044551 VAR_044552 comment A sporadic cancer VAR_044552 commonName VAR_044552 VAR_044553 comment A sporadic cancer VAR_044553 commonName VAR_044553 VAR_044554 comment Sporadic cancers VAR_044554 commonName VAR_044554 VAR_044555 comment A sporadic cancer VAR_044555 commonName VAR_044555 VAR_044556 comment A sporadic cancer VAR_044556 commonName VAR_044556 VAR_044557 comment A sporadic cancer VAR_044557 commonName VAR_044557 VAR_044558 comment A sporadic cancer VAR_044558 commonName VAR_044558 VAR_044559 comment A sporadic cancer VAR_044559 commonName VAR_044559 VAR_044560 comment A sporadic cancer VAR_044560 commonName VAR_044560 VAR_044561 comment A sporadic cancer VAR_044561 commonName VAR_044561 VAR_044562 comment A sporadic cancer VAR_044562 commonName VAR_044562 VAR_044563 comment A sporadic cancer VAR_044563 commonName VAR_044563 VAR_044564 comment A sporadic cancer VAR_044564 commonName VAR_044564 VAR_044565 comment A sporadic cancer VAR_044565 commonName VAR_044565 VAR_044566 comment A sporadic cancer VAR_044566 commonName VAR_044566 VAR_044567 comment Sporadic cancers VAR_044567 commonName VAR_044567 VAR_044568 comment Sporadic cancers VAR_044568 commonName VAR_044568 VAR_044569 comment Sporadic cancers VAR_044569 commonName VAR_044569 VAR_044570 comment A sporadic cancer VAR_044570 commonName VAR_044570 VAR_044571 comment Sporadic cancers VAR_044571 commonName VAR_044571 VAR_044572 comment A sporadic cancer VAR_044572 commonName VAR_044572 VAR_044573 comment Sporadic cancers VAR_044573 commonName VAR_044573 VAR_044574 comment A sporadic cancer VAR_044574 commonName VAR_044574 VAR_044575 comment A sporadic cancer VAR_044575 commonName VAR_044575 VAR_044576 comment A sporadic cancer VAR_044576 commonName VAR_044576 HbVar.682 phenoCommon Hemoglobin variant VAR_044577 comment A sporadic cancer VAR_044577 commonName VAR_044577 VAR_044578 comment Sporadic cancers VAR_044578 commonName VAR_044578 VAR_044579 comment A sporadic cancer VAR_044579 commonName VAR_044579 VAR_044580 comment A sporadic cancer VAR_044580 commonName VAR_044580 VAR_044581 comment A sporadic cancer VAR_044581 commonName VAR_044581 VAR_044582 comment Sporadic cancers VAR_044582 commonName VAR_044582 VAR_044583 comment Sporadic cancers VAR_044583 commonName VAR_044583 VAR_044584 comment Sporadic cancers VAR_044584 commonName VAR_044584 VAR_044585 comment A sporadic cancer VAR_044585 commonName VAR_044585 VAR_044586 comment Sporadic cancers VAR_044586 commonName VAR_044586 VAR_044587 comment Sporadic cancers VAR_044587 commonName VAR_044587 VAR_044588 comment A sporadic cancer VAR_044588 commonName VAR_044588 VAR_044589 comment A sporadic cancer VAR_044589 commonName VAR_044589 VAR_044590 comment A sporadic cancer VAR_044590 commonName VAR_044590 VAR_044591 comment A sporadic cancer VAR_044591 commonName VAR_044591 VAR_044592 comment A sporadic cancer VAR_044592 commonName VAR_044592 VAR_044593 comment A sporadic cancer VAR_044593 commonName VAR_044593 VAR_044594 comment Sporadic cancers VAR_044594 commonName VAR_044594 VAR_044595 comment A sporadic cancer VAR_044595 commonName VAR_044595 VAR_044596 comment Sporadic cancers VAR_044596 commonName VAR_044596 VAR_044597 comment Sporadic cancers VAR_044597 commonName VAR_044597 VAR_044598 comment A sporadic cancer VAR_044598 commonName VAR_044598 VAR_044599 comment A sporadic cancer VAR_044599 commonName VAR_044599 VAR_044600 comment Sporadic cancers VAR_044600 commonName VAR_044600 VAR_044601 comment A sporadic cancer VAR_044601 commonName VAR_044601 VAR_044602 comment A sporadic cancer VAR_044602 commonName VAR_044602 VAR_044603 comment A sporadic cancer VAR_044603 commonName VAR_044603 VAR_044604 comment A sporadic cancer VAR_044604 commonName VAR_044604 VAR_044605 comment A sporadic cancer VAR_044605 commonName VAR_044605 VAR_044606 comment Sporadic cancers VAR_044606 commonName VAR_044606 VAR_044607 comment Sporadic cancers VAR_044607 commonName VAR_044607 VAR_044608 comment A sporadic cancer VAR_044608 commonName VAR_044608 VAR_044609 comment Sporadic cancers VAR_044609 commonName VAR_044609 VAR_044610 comment Sporadic cancers VAR_044610 commonName VAR_044610 VAR_044611 comment A sporadic cancer VAR_044611 commonName VAR_044611 VAR_044612 comment A sporadic cancer VAR_044612 commonName VAR_044612 VAR_044613 comment A sporadic cancer VAR_044613 commonName VAR_044613 VAR_044614 comment Sporadic cancers VAR_044614 commonName VAR_044614 VAR_044615 comment Sporadic cancers VAR_044615 commonName VAR_044615 VAR_044616 comment A sporadic cancer VAR_044616 commonName VAR_044616 VAR_044617 comment Sporadic cancers VAR_044617 commonName VAR_044617 VAR_044618 comment A sporadic cancer VAR_044618 commonName VAR_044618 VAR_044619 comment A sporadic cancer VAR_044619 commonName VAR_044619 VAR_044620 comment Sporadic cancers VAR_044620 commonName VAR_044620 VAR_044621 commonName VAR_044621 VAR_044621 disease phenotype-associated VAR_044621 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_044622 comment Sporadic cancers VAR_044622 commonName VAR_044622 VAR_044623 comment A sporadic cancer VAR_044623 commonName VAR_044623 VAR_044624 comment Sporadic cancers VAR_044624 commonName VAR_044624 VAR_044625 comment Sporadic cancers VAR_044625 commonName VAR_044625 VAR_044626 comment Sporadic cancers VAR_044626 commonName VAR_044626 VAR_044627 comment Sporadic cancers VAR_044627 commonName VAR_044627 VAR_044628 comment Sporadic cancers VAR_044628 commonName VAR_044628 VAR_044629 comment A sporadic cancer VAR_044629 commonName VAR_044629 VAR_044630 comment A sporadic cancer VAR_044630 commonName VAR_044630 VAR_044631 comment Sporadic cancers VAR_044631 commonName VAR_044631 VAR_044632 comment Sporadic cancers VAR_044632 commonName VAR_044632 VAR_044633 comment Sporadic cancers VAR_044633 commonName VAR_044633 VAR_044634 comment Sporadic cancers VAR_044634 commonName VAR_044634 VAR_044635 comment A sporadic cancer VAR_044635 commonName VAR_044635 VAR_044636 comment A sporadic cancer VAR_044636 commonName VAR_044636 VAR_044637 comment A sporadic cancer VAR_044637 commonName VAR_044637 VAR_044638 comment A sporadic cancer VAR_044638 commonName VAR_044638 VAR_044639 comment A sporadic cancer VAR_044639 commonName VAR_044639 VAR_044640 comment A sporadic cancer VAR_044640 commonName VAR_044640 VAR_044641 comment A sporadic cancer VAR_044641 commonName VAR_044641 VAR_044642 comment Sporadic cancers VAR_044642 commonName VAR_044642 VAR_044643 comment Sporadic cancers VAR_044643 commonName VAR_044643 VAR_044644 comment A sporadic cancer VAR_044644 commonName VAR_044644 VAR_044645 comment A sporadic cancer VAR_044645 commonName VAR_044645 VAR_044646 comment Sporadic cancers VAR_044646 commonName VAR_044646 VAR_044647 comment A sporadic cancer VAR_044647 commonName VAR_044647 VAR_044648 comment A sporadic cancer VAR_044648 commonName VAR_044648 VAR_044649 comment A sporadic cancer VAR_044649 commonName VAR_044649 VAR_044650 comment Familial cancer not matching LFS VAR_044650 commonName VAR_044650 VAR_044651 comment Sporadic cancers VAR_044651 commonName VAR_044651 VAR_044652 comment Sporadic cancers VAR_044652 commonName VAR_044652 VAR_044653 comment Sporadic cancers VAR_044653 commonName VAR_044653 VAR_044654 comment A sporadic cancer VAR_044654 commonName VAR_044654 VAR_044655 comment A sporadic cancer VAR_044655 commonName VAR_044655 VAR_044656 comment A sporadic cancer VAR_044656 commonName VAR_044656 VAR_044657 comment Sporadic cancers VAR_044657 commonName VAR_044657 VAR_044658 comment Sporadic cancers VAR_044658 commonName VAR_044658 VAR_044659 comment Sporadic cancers VAR_044659 commonName VAR_044659 VAR_044660 comment A sporadic cancer VAR_044660 commonName VAR_044660 VAR_044661 commonName VAR_044661 VAR_044661 disease phenotype-associated VAR_044661 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_044662 comment Sporadic cancers VAR_044662 commonName VAR_044662 VAR_044663 comment Sporadic cancers VAR_044663 commonName VAR_044663 VAR_044664 comment A sporadic cancer VAR_044664 commonName VAR_044664 VAR_044665 comment Sporadic cancers VAR_044665 commonName VAR_044665 VAR_044666 comment A sporadic cancer VAR_044666 commonName VAR_044666 VAR_044667 comment A familial cancer not matching LFS VAR_044667 commonName VAR_044667 VAR_044668 comment A sporadic cancer VAR_044668 commonName VAR_044668 VAR_044669 comment Sporadic cancers VAR_044669 commonName VAR_044669 VAR_044670 comment A sporadic cancer VAR_044670 commonName VAR_044670 VAR_044671 comment A sporadic cancer VAR_044671 commonName VAR_044671 VAR_044672 comment Sporadic cancers VAR_044672 commonName VAR_044672 VAR_044673 comment Sporadic cancers VAR_044673 commonName VAR_044673 VAR_044674 comment A sporadic cancer VAR_044674 commonName VAR_044674 VAR_044675 comment Sporadic cancers VAR_044675 commonName VAR_044675 VAR_044676 comment A sporadic cancer VAR_044676 commonName VAR_044676 VAR_044677 comment Sporadic cancers VAR_044677 commonName VAR_044677 VAR_044678 comment A sporadic cancer VAR_044678 commonName VAR_044678 VAR_044679 comment A sporadic cancer VAR_044679 commonName VAR_044679 VAR_044680 comment Sporadic cancers VAR_044680 commonName VAR_044680 VAR_044681 comment Sporadic cancers VAR_044681 commonName VAR_044681 VAR_044682 comment Sporadic cancers VAR_044682 commonName VAR_044682 VAR_044683 comment Sporadic cancers VAR_044683 commonName VAR_044683 VAR_044684 comment Sporadic cancers VAR_044684 commonName VAR_044684 VAR_044685 comment A sporadic cancer VAR_044685 commonName VAR_044685 VAR_044686 comment Sporadic cancers VAR_044686 commonName VAR_044686 VAR_044687 comment Sporadic cancers VAR_044687 commonName VAR_044687 VAR_044688 comment Sporadic cancers VAR_044688 commonName VAR_044688 VAR_044689 comment Sporadic cancers VAR_044689 commonName VAR_044689 VAR_044690 comment A sporadic cancer VAR_044690 commonName VAR_044690 VAR_044691 comment A sporadic cancer VAR_044691 commonName VAR_044691 VAR_044692 comment Sporadic cancers VAR_044692 commonName VAR_044692 VAR_044693 comment Sporadic cancers VAR_044693 commonName VAR_044693 VAR_044694 comment A sporadic cancer VAR_044694 commonName VAR_044694 VAR_044695 comment Sporadic cancers VAR_044695 commonName VAR_044695 VAR_044696 comment A sporadic cancer VAR_044696 commonName VAR_044696 VAR_044697 comment A sporadic cancer VAR_044697 commonName VAR_044697 VAR_044698 comment A sporadic cancer VAR_044698 commonName VAR_044698 VAR_044699 comment Sporadic cancers VAR_044699 commonName VAR_044699 VAR_044700 comment Sporadic cancers VAR_044700 commonName VAR_044700 VAR_044701 comment A sporadic cancer VAR_044701 commonName VAR_044701 VAR_044702 comment Sporadic cancers VAR_044702 commonName VAR_044702 VAR_044703 comment Sporadic cancers VAR_044703 commonName VAR_044703 VAR_044704 comment A sporadic cancer VAR_044704 commonName VAR_044704 VAR_044705 comment A sporadic cancer VAR_044705 commonName VAR_044705 VAR_044706 comment A sporadic cancer VAR_044706 commonName VAR_044706 VAR_044707 comment A sporadic cancer VAR_044707 commonName VAR_044707 VAR_044708 comment Sporadic cancers VAR_044708 commonName VAR_044708 VAR_044709 comment Sporadic cancers VAR_044709 commonName VAR_044709 VAR_044710 comment A sporadic cancer VAR_044710 commonName VAR_044710 VAR_044711 comment A sporadic cancer VAR_044711 commonName VAR_044711 VAR_044712 comment A sporadic cancer VAR_044712 commonName VAR_044712 VAR_044713 comment Sporadic cancers VAR_044713 commonName VAR_044713 VAR_044714 comment A sporadic cancer VAR_044714 commonName VAR_044714 VAR_044715 comment Sporadic cancers VAR_044715 commonName VAR_044715 VAR_044716 comment A familial cancer not matching LFS VAR_044716 commonName VAR_044716 VAR_044717 comment A sporadic cancer VAR_044717 commonName VAR_044717 VAR_044718 comment Sporadic cancers VAR_044718 commonName VAR_044718 VAR_044719 comment Sporadic cancers VAR_044719 commonName VAR_044719 VAR_044720 comment A sporadic cancer VAR_044720 commonName VAR_044720 VAR_044721 comment Sporadic cancers VAR_044721 commonName VAR_044721 VAR_044722 comment Sporadic cancers VAR_044722 commonName VAR_044722 VAR_044723 comment Sporadic cancers VAR_044723 commonName VAR_044723 VAR_044724 comment Sporadic cancers VAR_044724 commonName VAR_044724 VAR_044725 comment Sporadic cancers VAR_044725 commonName VAR_044725 VAR_044726 comment Sporadic cancers VAR_044726 commonName VAR_044726 VAR_044727 comment A sporadic cancer VAR_044727 commonName VAR_044727 VAR_044728 comment Sporadic cancers VAR_044728 commonName VAR_044728 VAR_044729 comment Sporadic cancers VAR_044729 commonName VAR_044729 VAR_044730 comment Sporadic cancers VAR_044730 commonName VAR_044730 VAR_044731 comment Sporadic cancers VAR_044731 commonName VAR_044731 VAR_044732 comment A sporadic cancer VAR_044732 commonName VAR_044732 VAR_044733 comment Sporadic cancers VAR_044733 commonName VAR_044733 VAR_044734 comment Sporadic cancers VAR_044734 commonName VAR_044734 VAR_044735 comment A sporadic cancer VAR_044735 commonName VAR_044735 VAR_044736 comment Sporadic cancers VAR_044736 commonName VAR_044736 VAR_044737 comment Sporadic cancers VAR_044737 commonName VAR_044737 VAR_044738 comment A sporadic cancer VAR_044738 commonName VAR_044738 VAR_044739 comment Sporadic cancers VAR_044739 commonName VAR_044739 VAR_044740 commonName VAR_044740 VAR_044740 disease phenotype-associated VAR_044740 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_044741 comment Sporadic cancers VAR_044741 commonName VAR_044741 VAR_044742 comment Sporadic cancers VAR_044742 commonName VAR_044742 VAR_044743 comment Sporadic cancers VAR_044743 commonName VAR_044743 VAR_044744 comment Sporadic cancers VAR_044744 commonName VAR_044744 VAR_044745 comment Sporadic cancers VAR_044745 commonName VAR_044745 VAR_044746 comment Sporadic cancers VAR_044746 commonName VAR_044746 VAR_044747 commonName VAR_044747 VAR_044747 disease phenotype-associated VAR_044747 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_044748 comment Sporadic cancers VAR_044748 commonName VAR_044748 VAR_044749 comment Sporadic cancers VAR_044749 commonName VAR_044749 VAR_044750 comment Sporadic cancers VAR_044750 commonName VAR_044750 VAR_044751 comment Sporadic cancers VAR_044751 commonName VAR_044751 VAR_044752 comment Sporadic cancers VAR_044752 commonName VAR_044752 VAR_044753 comment Sporadic cancers VAR_044753 commonName VAR_044753 VAR_044754 comment Sporadic cancers VAR_044754 commonName VAR_044754 VAR_044755 comment Sporadic cancers VAR_044755 commonName VAR_044755 VAR_044756 comment Sporadic cancers VAR_044756 commonName VAR_044756 VAR_044757 comment Sporadic cancers VAR_044757 commonName VAR_044757 VAR_044758 comment Sporadic cancers VAR_044758 commonName VAR_044758 VAR_044759 comment Sporadic cancers VAR_044759 commonName VAR_044759 VAR_044760 comment Sporadic cancers VAR_044760 commonName VAR_044760 VAR_044761 comment Sporadic cancers VAR_044761 commonName VAR_044761 VAR_044762 comment Sporadic cancers VAR_044762 commonName VAR_044762 VAR_044763 comment Sporadic cancers VAR_044763 commonName VAR_044763 VAR_044764 commonName VAR_044764 VAR_044764 disease phenotype-associated VAR_044764 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_044765 comment Sporadic cancers VAR_044765 commonName VAR_044765 VAR_044766 comment Sporadic cancers VAR_044766 commonName VAR_044766 VAR_044767 comment Sporadic cancers VAR_044767 commonName VAR_044767 VAR_044768 comment Sporadic cancers VAR_044768 commonName VAR_044768 VAR_044769 comment Sporadic cancers VAR_044769 commonName VAR_044769 VAR_044770 comment Sporadic cancers VAR_044770 commonName VAR_044770 VAR_044771 comment Sporadic cancers VAR_044771 commonName VAR_044771 VAR_044772 comment A sporadic cancer VAR_044772 commonName VAR_044772 VAR_044773 comment A sporadic cancer VAR_044773 commonName VAR_044773 VAR_044774 comment Sporadic cancers VAR_044774 commonName VAR_044774 VAR_044775 comment Sporadic cancers VAR_044775 commonName VAR_044775 VAR_044776 comment Sporadic cancers VAR_044776 commonName VAR_044776 VAR_044777 comment Sporadic cancers VAR_044777 commonName VAR_044777 VAR_044778 comment Sporadic cancers VAR_044778 commonName VAR_044778 VAR_044779 comment Sporadic cancers VAR_044779 commonName VAR_044779 VAR_044780 comment Sporadic cancers VAR_044780 commonName VAR_044780 VAR_044781 comment A sporadic cancer VAR_044781 commonName VAR_044781 VAR_044782 comment Sporadic cancers VAR_044782 commonName VAR_044782 VAR_044783 comment Sporadic cancers VAR_044783 commonName VAR_044783 VAR_044784 comment Sporadic cancers VAR_044784 commonName VAR_044784 VAR_044785 comment Sporadic cancers VAR_044785 commonName VAR_044785 VAR_044786 comment Sporadic cancers VAR_044786 commonName VAR_044786 VAR_044787 comment Sporadic cancers VAR_044787 commonName VAR_044787 VAR_044788 comment Sporadic cancers VAR_044788 commonName VAR_044788 VAR_044789 comment Sporadic cancers VAR_044789 commonName VAR_044789 VAR_044790 commonName VAR_044790 VAR_044790 disease phenotype-associated VAR_044790 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_044791 comment Sporadic cancers VAR_044791 commonName VAR_044791 VAR_044792 comment Sporadic cancers VAR_044792 commonName VAR_044792 VAR_044793 comment Sporadic cancers VAR_044793 commonName VAR_044793 VAR_044794 comment Sporadic cancers VAR_044794 commonName VAR_044794 VAR_044795 comment A sporadic cancer VAR_044795 commonName VAR_044795 VAR_044796 comment Sporadic cancers VAR_044796 commonName VAR_044796 VAR_044797 comment Sporadic cancers VAR_044797 commonName VAR_044797 VAR_044798 comment Sporadic cancers VAR_044798 commonName VAR_044798 VAR_044799 comment Sporadic cancers VAR_044799 commonName VAR_044799 VAR_044800 comment Sporadic cancers VAR_044800 commonName VAR_044800 VAR_044801 comment Sporadic cancers VAR_044801 commonName VAR_044801 VAR_044802 comment A sporadic cancer VAR_044802 commonName VAR_044802 VAR_044803 comment Sporadic cancers VAR_044803 commonName VAR_044803 VAR_044804 comment A sporadic cancer VAR_044804 commonName VAR_044804 VAR_044805 comment Sporadic cancers VAR_044805 commonName VAR_044805 VAR_044806 comment A sporadic cancer VAR_044806 commonName VAR_044806 VAR_044807 comment Sporadic cancers VAR_044807 commonName VAR_044807 VAR_044808 comment Sporadic cancers VAR_044808 commonName VAR_044808 VAR_044809 comment Sporadic cancers VAR_044809 commonName VAR_044809 VAR_044810 comment Sporadic cancers VAR_044810 commonName VAR_044810 VAR_044811 comment Sporadic cancers VAR_044811 commonName VAR_044811 VAR_044812 comment A sporadic cancer VAR_044812 commonName VAR_044812 VAR_044813 comment Sporadic cancers VAR_044813 commonName VAR_044813 VAR_044814 comment Sporadic cancers VAR_044814 commonName VAR_044814 VAR_044815 comment A sporadic cancer VAR_044815 commonName VAR_044815 VAR_044816 comment A sporadic cancer VAR_044816 commonName VAR_044816 VAR_044817 comment A sporadic cancer VAR_044817 commonName VAR_044817 VAR_044818 comment Sporadic cancers VAR_044818 commonName VAR_044818 VAR_044819 comment Sporadic cancers VAR_044819 commonName VAR_044819 VAR_044820 comment Sporadic cancers VAR_044820 commonName VAR_044820 VAR_044821 comment Sporadic cancers VAR_044821 commonName VAR_044821 VAR_044822 comment Sporadic cancers VAR_044822 commonName VAR_044822 VAR_044823 comment Sporadic cancers VAR_044823 commonName VAR_044823 VAR_044824 comment Sporadic cancers VAR_044824 commonName VAR_044824 VAR_044825 comment Sporadic cancers VAR_044825 commonName VAR_044825 VAR_044826 comment A sporadic cancer VAR_044826 commonName VAR_044826 VAR_044827 comment Sporadic cancers VAR_044827 commonName VAR_044827 VAR_044828 comment A sporadic cancer VAR_044828 commonName VAR_044828 VAR_044829 comment Sporadic cancers VAR_044829 commonName VAR_044829 VAR_044830 comment Sporadic cancers VAR_044830 commonName VAR_044830 VAR_044831 comment A sporadic cancer VAR_044831 commonName VAR_044831 VAR_044832 comment Sporadic cancers VAR_044832 commonName VAR_044832 VAR_044833 comment Sporadic cancers VAR_044833 commonName VAR_044833 VAR_044834 comment Sporadic cancers VAR_044834 commonName VAR_044834 VAR_044835 comment A sporadic cancer VAR_044835 commonName VAR_044835 VAR_044836 commonName VAR_044836 VAR_044836 disease phenotype-associated VAR_044836 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_044837 comment Sporadic cancers VAR_044837 commonName VAR_044837 VAR_044838 comment Sporadic cancers VAR_044838 commonName VAR_044838 VAR_044839 comment Sporadic cancers VAR_044839 commonName VAR_044839 VAR_044840 comment Sporadic cancers VAR_044840 commonName VAR_044840 VAR_044841 commonName VAR_044841 VAR_044841 disease phenotype-associated VAR_044841 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_044842 comment Sporadic cancers VAR_044842 commonName VAR_044842 VAR_044843 comment Sporadic cancers VAR_044843 commonName VAR_044843 VAR_044844 comment Sporadic cancers VAR_044844 commonName VAR_044844 VAR_044845 comment Sporadic cancers VAR_044845 commonName VAR_044845 VAR_044846 comment Sporadic cancers VAR_044846 commonName VAR_044846 VAR_044847 comment Sporadic cancers VAR_044847 commonName VAR_044847 VAR_044848 comment Sporadic cancers VAR_044848 commonName VAR_044848 VAR_044849 comment A sporadic cancer VAR_044849 commonName VAR_044849 VAR_044850 comment Sporadic cancers VAR_044850 commonName VAR_044850 VAR_044851 comment Sporadic cancers VAR_044851 commonName VAR_044851 VAR_044852 comment Sporadic cancers VAR_044852 commonName VAR_044852 VAR_044853 comment Sporadic cancers VAR_044853 commonName VAR_044853 VAR_044854 comment Sporadic cancers VAR_044854 commonName VAR_044854 VAR_044855 comment Sporadic cancers VAR_044855 commonName VAR_044855 VAR_044856 comment Sporadic cancers VAR_044856 commonName VAR_044856 VAR_044857 comment Sporadic cancers VAR_044857 commonName VAR_044857 VAR_044858 comment A sporadic cancer VAR_044858 commonName VAR_044858 VAR_044859 comment Sporadic cancers VAR_044859 commonName VAR_044859 VAR_044860 comment Sporadic cancers VAR_044860 commonName VAR_044860 VAR_044861 comment Sporadic cancers VAR_044861 commonName VAR_044861 VAR_044862 comment Sporadic cancers VAR_044862 commonName VAR_044862 VAR_044863 comment Sporadic cancers VAR_044863 commonName VAR_044863 VAR_044864 comment Sporadic cancers VAR_044864 commonName VAR_044864 VAR_044865 comment Sporadic cancers VAR_044865 commonName VAR_044865 VAR_044866 comment Sporadic cancers VAR_044866 commonName VAR_044866 VAR_044867 comment A breast cancer with no family history VAR_044867 commonName VAR_044867 VAR_044868 comment Sporadic cancers VAR_044868 commonName VAR_044868 VAR_044869 comment Sporadic cancers VAR_044869 commonName VAR_044869 VAR_044870 comment A sporadic cancer VAR_044870 commonName VAR_044870 VAR_044871 comment Sporadic cancers VAR_044871 commonName VAR_044871 VAR_044872 comment Sporadic cancers VAR_044872 commonName VAR_044872 VAR_044873 comment Sporadic cancers VAR_044873 commonName VAR_044873 VAR_044874 comment Sporadic cancers VAR_044874 commonName VAR_044874 VAR_044875 comment Sporadic cancers VAR_044875 commonName VAR_044875 VAR_044876 comment Sporadic cancers VAR_044876 commonName VAR_044876 VAR_044877 comment Sporadic cancers VAR_044877 commonName VAR_044877 VAR_044878 comment A sporadic cancer VAR_044878 commonName VAR_044878 VAR_044879 comment Sporadic cancers VAR_044879 commonName VAR_044879 VAR_044880 comment Sporadic cancers VAR_044880 commonName VAR_044880 VAR_044881 comment A sporadic cancer VAR_044881 commonName VAR_044881 VAR_044882 comment Sporadic cancers VAR_044882 commonName VAR_044882 VAR_044883 comment Sporadic cancers VAR_044883 commonName VAR_044883 VAR_044884 comment Sporadic cancers VAR_044884 commonName VAR_044884 VAR_044885 commonName VAR_044885 VAR_044885 disease phenotype-associated VAR_044885 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_044886 comment Sporadic cancers VAR_044886 commonName VAR_044886 VAR_044887 comment Sporadic cancers VAR_044887 commonName VAR_044887 VAR_044888 comment Sporadic cancers VAR_044888 commonName VAR_044888 VAR_044889 comment Sporadic cancers VAR_044889 commonName VAR_044889 VAR_044890 comment Sporadic cancers VAR_044890 commonName VAR_044890 VAR_044891 comment Sporadic cancers VAR_044891 commonName VAR_044891 VAR_044892 comment Sporadic cancers VAR_044892 commonName VAR_044892 VAR_044893 comment Sporadic cancers VAR_044893 commonName VAR_044893 VAR_044894 comment Sporadic cancers VAR_044894 commonName VAR_044894 VAR_044895 comment Sporadic cancers VAR_044895 commonName VAR_044895 VAR_044896 comment Sporadic cancers VAR_044896 commonName VAR_044896 VAR_044897 comment A sporadic cancer VAR_044897 commonName VAR_044897 VAR_044898 comment A sporadic cancer VAR_044898 commonName VAR_044898 VAR_044899 comment A sporadic cancer VAR_044899 commonName VAR_044899 VAR_044900 comment Sporadic cancers VAR_044900 commonName VAR_044900 VAR_044901 comment Sporadic cancers VAR_044901 commonName VAR_044901 VAR_044902 comment Sporadic cancers VAR_044902 commonName VAR_044902 VAR_044903 comment A sporadic cancer VAR_044903 commonName VAR_044903 VAR_044904 comment Sporadic cancers VAR_044904 commonName VAR_044904 VAR_044905 comment Sporadic cancers VAR_044905 commonName VAR_044905 VAR_044906 commonName VAR_044906 VAR_044906 disease phenotype-associated VAR_044906 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_044907 comment Sporadic cancers VAR_044907 commonName VAR_044907 VAR_044908 comment Sporadic cancers VAR_044908 commonName VAR_044908 VAR_044909 comment Sporadic cancers VAR_044909 commonName VAR_044909 VAR_044910 comment Sporadic cancers VAR_044910 commonName VAR_044910 VAR_044911 commonName VAR_044911 VAR_044911 disease phenotype-associated VAR_044911 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_044912 comment Sporadic cancers VAR_044912 commonName VAR_044912 VAR_044913 comment Sporadic cancers VAR_044913 commonName VAR_044913 VAR_044914 comment A sporadic cancer VAR_044914 commonName VAR_044914 VAR_044915 comment Sporadic cancers VAR_044915 commonName VAR_044915 VAR_044916 comment A sporadic cancer VAR_044916 commonName VAR_044916 VAR_044917 comment Sporadic cancers VAR_044917 commonName VAR_044917 VAR_044918 comment Sporadic cancers VAR_044918 commonName VAR_044918 VAR_044919 comment Sporadic cancers VAR_044919 commonName VAR_044919 VAR_044920 comment Sporadic cancers VAR_044920 commonName VAR_044920 VAR_044921 comment Sporadic cancers VAR_044921 commonName VAR_044921 VAR_044922 comment A sporadic cancer VAR_044922 commonName VAR_044922 VAR_044923 comment Sporadic cancers VAR_044923 commonName VAR_044923 VAR_044924 comment Sporadic cancers VAR_044924 commonName VAR_044924 VAR_044925 comment A sporadic cancer VAR_044925 commonName VAR_044925 VAR_044926 comment Sporadic cancers VAR_044926 commonName VAR_044926 VAR_044927 comment A sporadic cancer VAR_044927 commonName VAR_044927 VAR_044928 comment Sporadic cancers VAR_044928 commonName VAR_044928 VAR_044929 comment Sporadic cancers VAR_044929 commonName VAR_044929 VAR_044930 comment Sporadic cancers VAR_044930 commonName VAR_044930 VAR_044931 comment Sporadic cancers VAR_044931 commonName VAR_044931 VAR_044932 comment Sporadic cancers VAR_044932 commonName VAR_044932 VAR_044933 comment Sporadic cancers VAR_044933 commonName VAR_044933 VAR_044934 comment Sporadic cancers VAR_044934 commonName VAR_044934 VAR_044935 comment Sporadic cancers VAR_044935 commonName VAR_044935 VAR_044936 comment Sporadic cancers VAR_044936 commonName VAR_044936 VAR_044937 comment Sporadic cancers VAR_044937 commonName VAR_044937 VAR_044938 comment Sporadic cancers VAR_044938 commonName VAR_044938 VAR_044939 commonName VAR_044939 VAR_044939 disease phenotype-associated VAR_044939 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_044940 comment A sporadic cancer VAR_044940 commonName VAR_044940 VAR_044941 comment Sporadic cancers VAR_044941 commonName VAR_044941 VAR_044942 comment A sporadic cancer VAR_044942 commonName VAR_044942 VAR_044943 commonName VAR_044943 VAR_044943 disease phenotype-associated VAR_044943 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_044944 comment Sporadic cancers VAR_044944 commonName VAR_044944 VAR_044945 comment A sporadic cancer VAR_044945 commonName VAR_044945 VAR_044946 commonName VAR_044946 VAR_044946 disease phenotype-associated VAR_044946 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_044947 comment Sporadic cancers VAR_044947 commonName VAR_044947 VAR_044948 commonName VAR_044948 VAR_044948 disease phenotype-associated VAR_044948 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_044949 comment A familial cancer not matching LFS VAR_044949 commonName VAR_044949 VAR_044950 comment Sporadic cancers VAR_044950 commonName VAR_044950 VAR_044951 comment Sporadic cancers VAR_044951 commonName VAR_044951 VAR_044952 comment Sporadic cancers VAR_044952 commonName VAR_044952 VAR_044953 comment Sporadic cancers VAR_044953 commonName VAR_044953 VAR_044954 comment Sporadic cancers VAR_044954 commonName VAR_044954 VAR_044955 comment Sporadic cancers VAR_044955 commonName VAR_044955 VAR_044956 comment Sporadic cancers VAR_044956 commonName VAR_044956 VAR_044957 comment Sporadic cancers VAR_044957 commonName VAR_044957 VAR_044958 comment A sporadic cancer VAR_044958 commonName VAR_044958 VAR_044959 comment Sporadic cancers VAR_044959 commonName VAR_044959 VAR_044960 comment Sporadic cancers VAR_044960 commonName VAR_044960 VAR_044961 comment A sporadic cancer VAR_044961 commonName VAR_044961 VAR_044962 comment Sporadic cancers VAR_044962 commonName VAR_044962 VAR_044963 comment A sporadic cancer VAR_044963 commonName VAR_044963 VAR_044964 comment A sporadic cancer VAR_044964 commonName VAR_044964 VAR_044965 comment Sporadic cancers VAR_044965 commonName VAR_044965 VAR_044966 comment Sporadic cancers VAR_044966 commonName VAR_044966 VAR_044967 comment Sporadic cancers VAR_044967 commonName VAR_044967 VAR_044968 comment Sporadic cancers VAR_044968 commonName VAR_044968 VAR_044969 comment Sporadic cancers VAR_044969 commonName VAR_044969 VAR_044970 comment Sporadic cancers VAR_044970 commonName VAR_044970 VAR_044971 comment Sporadic cancers VAR_044971 commonName VAR_044971 VAR_044972 comment A sporadic cancer VAR_044972 commonName VAR_044972 VAR_044973 comment Sporadic cancers VAR_044973 commonName VAR_044973 VAR_044974 comment A sporadic cancer VAR_044974 commonName VAR_044974 VAR_044975 comment Sporadic cancers VAR_044975 commonName VAR_044975 VAR_044976 comment A sporadic cancer VAR_044976 commonName VAR_044976 VAR_044977 comment Sporadic cancers VAR_044977 commonName VAR_044977 VAR_044978 comment A familial cancer not matching LFS VAR_044978 commonName VAR_044978 VAR_044979 comment Sporadic cancers VAR_044979 commonName VAR_044979 VAR_044980 comment A sporadic cancer VAR_044980 commonName VAR_044980 VAR_044981 comment Sporadic cancers VAR_044981 commonName VAR_044981 VAR_044982 comment Sporadic cancers VAR_044982 commonName VAR_044982 VAR_044983 comment Sporadic cancers VAR_044983 commonName VAR_044983 VAR_044984 comment Sporadic cancers VAR_044984 commonName VAR_044984 VAR_044985 comment Sporadic cancers VAR_044985 commonName VAR_044985 VAR_044986 comment Sporadic cancers VAR_044986 commonName VAR_044986 VAR_044987 comment Sporadic cancers VAR_044987 commonName VAR_044987 VAR_044988 comment Sporadic cancers VAR_044988 commonName VAR_044988 VAR_044989 comment A sporadic cancer VAR_044989 commonName VAR_044989 VAR_044990 comment Sporadic cancers VAR_044990 commonName VAR_044990 VAR_044991 comment Sporadic cancers VAR_044991 commonName VAR_044991 VAR_044992 comment Sporadic cancers VAR_044992 commonName VAR_044992 VAR_044993 comment Sporadic cancers VAR_044993 commonName VAR_044993 VAR_044994 comment Sporadic cancers VAR_044994 commonName VAR_044994 VAR_044995 comment Sporadic cancers VAR_044995 commonName VAR_044995 VAR_044996 comment Sporadic cancers VAR_044996 commonName VAR_044996 VAR_044997 comment Sporadic cancers VAR_044997 commonName VAR_044997 VAR_044998 comment Sporadic cancers VAR_044998 commonName VAR_044998 VAR_044999 comment Sporadic cancers VAR_044999 commonName VAR_044999 VAR_045000 comment Sporadic cancers VAR_045000 commonName VAR_045000 VAR_045001 comment Sporadic cancers VAR_045001 commonName VAR_045001 VAR_045002 comment Sporadic cancers VAR_045002 commonName VAR_045002 VAR_045003 comment Sporadic cancers VAR_045003 commonName VAR_045003 VAR_045004 comment A sporadic cancer VAR_045004 commonName VAR_045004 VAR_045005 comment Sporadic cancers VAR_045005 commonName VAR_045005 VAR_045006 comment Sporadic cancers VAR_045006 commonName VAR_045006 VAR_045007 commonName VAR_045007 VAR_045007 disease phenotype-associated VAR_045007 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_045008 comment Sporadic cancers VAR_045008 commonName VAR_045008 VAR_045009 comment A sporadic cancer VAR_045009 commonName VAR_045009 VAR_045010 comment A familial cancer not matching LFS VAR_045010 commonName VAR_045010 VAR_045011 comment Sporadic cancers VAR_045011 commonName VAR_045011 VAR_045012 comment Sporadic cancers VAR_045012 commonName VAR_045012 VAR_045013 commonName VAR_045013 VAR_045013 disease phenotype-associated VAR_045013 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_045014 comment A sporadic cancer VAR_045014 commonName VAR_045014 VAR_045015 comment Sporadic cancers VAR_045015 commonName VAR_045015 VAR_045016 comment Sporadic cancers VAR_045016 commonName VAR_045016 VAR_045017 comment A sporadic cancer VAR_045017 commonName VAR_045017 VAR_045018 comment A sporadic cancer VAR_045018 commonName VAR_045018 VAR_045019 comment Sporadic cancers VAR_045019 commonName VAR_045019 VAR_045020 comment Sporadic cancers VAR_045020 commonName VAR_045020 VAR_045021 comment Sporadic cancers VAR_045021 commonName VAR_045021 VAR_045022 comment Sporadic cancers VAR_045022 commonName VAR_045022 VAR_045023 comment Sporadic cancers VAR_045023 commonName VAR_045023 VAR_045024 comment A sporadic cancer VAR_045024 commonName VAR_045024 VAR_045025 comment Sporadic cancers VAR_045025 commonName VAR_045025 VAR_045026 comment A sporadic cancer VAR_045026 commonName VAR_045026 VAR_045027 comment Sporadic cancers VAR_045027 commonName VAR_045027 VAR_045028 comment A sporadic cancer VAR_045028 commonName VAR_045028 VAR_045029 comment A sporadic cancer VAR_045029 commonName VAR_045029 VAR_045030 comment Sporadic cancers VAR_045030 commonName VAR_045030 VAR_045031 comment Sporadic cancers VAR_045031 commonName VAR_045031 VAR_045032 comment Sporadic cancers VAR_045032 commonName VAR_045032 VAR_045033 comment Sporadic cancers VAR_045033 commonName VAR_045033 VAR_045034 comment Sporadic cancers VAR_045034 commonName VAR_045034 VAR_045035 comment Sporadic cancers VAR_045035 commonName VAR_045035 VAR_045036 comment Sporadic cancers VAR_045036 commonName VAR_045036 VAR_045037 comment Sporadic cancers VAR_045037 commonName VAR_045037 VAR_045038 comment Sporadic cancers VAR_045038 commonName VAR_045038 VAR_045039 comment Sporadic cancers VAR_045039 commonName VAR_045039 VAR_045040 comment Sporadic cancers VAR_045040 commonName VAR_045040 VAR_045041 comment Sporadic cancers VAR_045041 commonName VAR_045041 VAR_045042 comment Sporadic cancers VAR_045042 commonName VAR_045042 VAR_045043 comment Sporadic cancers VAR_045043 commonName VAR_045043 VAR_045044 comment A sporadic cancer VAR_045044 commonName VAR_045044 VAR_045045 comment A sporadic cancer VAR_045045 commonName VAR_045045 VAR_045046 comment Sporadic cancers VAR_045046 commonName VAR_045046 VAR_045047 comment Sporadic cancers VAR_045047 commonName VAR_045047 VAR_045048 comment Sporadic cancers VAR_045048 commonName VAR_045048 VAR_045049 comment A sporadic cancer VAR_045049 commonName VAR_045049 VAR_045050 comment A sporadic cancer VAR_045050 commonName VAR_045050 VAR_045051 comment Sporadic cancers VAR_045051 commonName VAR_045051 VAR_045052 comment Sporadic cancers VAR_045052 commonName VAR_045052 VAR_045053 comment Sporadic cancers VAR_045053 commonName VAR_045053 VAR_045054 comment Sporadic cancers VAR_045054 commonName VAR_045054 VAR_045055 comment A sporadic cancer VAR_045055 commonName VAR_045055 VAR_045056 comment A sporadic cancer VAR_045056 commonName VAR_045056 VAR_045057 comment Sporadic cancers VAR_045057 commonName VAR_045057 VAR_045058 comment Sporadic cancers VAR_045058 commonName VAR_045058 VAR_045059 comment A sporadic cancer VAR_045059 commonName VAR_045059 VAR_045060 comment Sporadic cancers VAR_045060 commonName VAR_045060 VAR_045061 comment Sporadic cancers VAR_045061 commonName VAR_045061 VAR_045062 comment A sporadic cancer VAR_045062 commonName VAR_045062 VAR_045063 comment Sporadic cancers VAR_045063 commonName VAR_045063 VAR_045064 comment Sporadic cancers VAR_045064 commonName VAR_045064 VAR_045065 comment A sporadic cancer VAR_045065 commonName VAR_045065 VAR_045066 comment Sporadic cancers VAR_045066 commonName VAR_045066 VAR_045067 comment Sporadic cancers VAR_045067 commonName VAR_045067 VAR_045068 comment Sporadic cancers VAR_045068 commonName VAR_045068 VAR_045069 comment A sporadic cancer VAR_045069 commonName VAR_045069 VAR_045070 comment A sporadic cancer VAR_045070 commonName VAR_045070 VAR_045071 comment Sporadic cancers VAR_045071 commonName VAR_045071 VAR_045072 comment A sporadic cancer VAR_045072 commonName VAR_045072 VAR_045073 comment A familial cancer not matching LFS VAR_045073 commonName VAR_045073 VAR_045074 comment Sporadic cancers VAR_045074 commonName VAR_045074 VAR_045075 comment Sporadic cancers VAR_045075 commonName VAR_045075 VAR_045076 comment Sporadic cancers VAR_045076 commonName VAR_045076 VAR_045077 comment A sporadic cancer VAR_045077 commonName VAR_045077 VAR_045078 comment Sporadic cancers VAR_045078 commonName VAR_045078 VAR_045079 comment Sporadic cancers VAR_045079 commonName VAR_045079 VAR_045080 comment Sporadic cancers VAR_045080 commonName VAR_045080 VAR_045081 comment Sporadic cancers VAR_045081 commonName VAR_045081 VAR_045082 comment A sporadic cancer VAR_045082 commonName VAR_045082 VAR_045083 comment Sporadic cancers VAR_045083 commonName VAR_045083 VAR_045084 comment Sporadic cancers VAR_045084 commonName VAR_045084 VAR_045085 comment Sporadic cancers VAR_045085 commonName VAR_045085 VAR_045086 comment Sporadic cancers VAR_045086 commonName VAR_045086 VAR_045087 comment Sporadic cancers VAR_045087 commonName VAR_045087 VAR_045088 comment A sporadic cancer VAR_045088 commonName VAR_045088 VAR_045089 comment Sporadic cancers VAR_045089 commonName VAR_045089 VAR_045090 comment Sporadic cancers VAR_045090 commonName VAR_045090 VAR_045091 comment Sporadic cancers VAR_045091 commonName VAR_045091 VAR_045092 comment Sporadic cancers VAR_045092 commonName VAR_045092 VAR_045093 comment Sporadic cancers VAR_045093 commonName VAR_045093 VAR_045094 comment Sporadic cancers VAR_045094 commonName VAR_045094 VAR_045095 comment Sporadic cancers VAR_045095 commonName VAR_045095 VAR_045096 comment Sporadic cancers VAR_045096 commonName VAR_045096 VAR_045097 comment Sporadic cancers VAR_045097 commonName VAR_045097 VAR_045098 comment Sporadic cancers VAR_045098 commonName VAR_045098 VAR_045099 comment Sporadic cancers VAR_045099 commonName VAR_045099 VAR_045100 comment Sporadic cancers VAR_045100 commonName VAR_045100 VAR_045101 comment Sporadic cancers VAR_045101 commonName VAR_045101 VAR_045102 comment Sporadic cancers VAR_045102 commonName VAR_045102 VAR_045103 comment Sporadic cancers VAR_045103 commonName VAR_045103 VAR_045104 comment A sporadic cancer VAR_045104 commonName VAR_045104 VAR_045105 comment Sporadic cancers VAR_045105 commonName VAR_045105 VAR_045106 comment Sporadic cancers VAR_045106 commonName VAR_045106 VAR_045107 comment Sporadic cancers VAR_045107 commonName VAR_045107 VAR_045108 comment Sporadic cancers VAR_045108 commonName VAR_045108 VAR_045109 comment Sporadic cancers VAR_045109 commonName VAR_045109 VAR_045110 comment Sporadic cancers VAR_045110 commonName VAR_045110 VAR_045111 comment A sporadic cancer VAR_045111 commonName VAR_045111 VAR_045112 comment Sporadic cancers VAR_045112 commonName VAR_045112 VAR_045113 comment A sporadic cancer VAR_045113 commonName VAR_045113 VAR_045114 comment A familial cancer not matching LFS VAR_045114 commonName VAR_045114 VAR_045115 comment Sporadic cancers VAR_045115 commonName VAR_045115 VAR_045116 comment Sporadic cancers VAR_045116 commonName VAR_045116 VAR_045117 comment A sporadic cancer VAR_045117 commonName VAR_045117 VAR_045118 comment Sporadic cancers VAR_045118 commonName VAR_045118 VAR_045119 comment Sporadic cancers VAR_045119 commonName VAR_045119 VAR_045120 comment Sporadic cancers VAR_045120 commonName VAR_045120 VAR_045121 comment Sporadic cancers VAR_045121 commonName VAR_045121 VAR_045122 comment Sporadic cancers VAR_045122 commonName VAR_045122 VAR_045123 comment Sporadic cancers VAR_045123 commonName VAR_045123 VAR_045124 comment A sporadic cancer VAR_045124 commonName VAR_045124 VAR_045125 comment Sporadic cancers VAR_045125 commonName VAR_045125 VAR_045126 comment Sporadic cancers VAR_045126 commonName VAR_045126 VAR_045127 comment A sporadic cancer VAR_045127 commonName VAR_045127 VAR_045128 comment Sporadic cancers VAR_045128 commonName VAR_045128 VAR_045129 comment Sporadic cancers VAR_045129 commonName VAR_045129 VAR_045130 comment Sporadic cancers VAR_045130 commonName VAR_045130 VAR_045131 comment Sporadic cancers VAR_045131 commonName VAR_045131 VAR_045132 comment A sporadic cancer VAR_045132 commonName VAR_045132 VAR_045133 comment A sporadic cancer VAR_045133 commonName VAR_045133 VAR_045134 comment A sporadic cancer VAR_045134 commonName VAR_045134 VAR_045135 comment Sporadic cancers VAR_045135 commonName VAR_045135 VAR_045136 comment Sporadic cancers VAR_045136 commonName VAR_045136 VAR_045137 comment Sporadic cancers VAR_045137 commonName VAR_045137 VAR_045138 comment A sporadic cancer VAR_045138 commonName VAR_045138 VAR_045139 comment Sporadic cancers VAR_045139 commonName VAR_045139 VAR_045140 comment A sporadic cancer VAR_045140 commonName VAR_045140 VAR_045141 comment Sporadic cancers VAR_045141 commonName VAR_045141 VAR_045142 comment A sporadic cancer VAR_045142 commonName VAR_045142 VAR_045143 comment Sporadic cancers VAR_045143 commonName VAR_045143 VAR_045144 comment A sporadic cancer VAR_045144 commonName VAR_045144 VAR_045145 comment Sporadic cancers VAR_045145 commonName VAR_045145 VAR_045146 comment Sporadic cancers VAR_045146 commonName VAR_045146 VAR_045147 comment Sporadic cancers VAR_045147 commonName VAR_045147 VAR_045148 comment Sporadic cancers VAR_045148 commonName VAR_045148 VAR_045149 comment Sporadic cancers VAR_045149 commonName VAR_045149 VAR_045150 comment A sporadic cancer VAR_045150 commonName VAR_045150 VAR_045151 commonName VAR_045151 VAR_045151 disease phenotype-associated VAR_045151 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_045152 comment Sporadic cancers VAR_045152 commonName VAR_045152 VAR_045153 comment Sporadic cancers VAR_045153 commonName VAR_045153 VAR_045154 comment Sporadic cancers VAR_045154 commonName VAR_045154 VAR_045155 comment Sporadic cancers VAR_045155 commonName VAR_045155 VAR_045156 comment Sporadic cancers VAR_045156 commonName VAR_045156 VAR_045157 comment Sporadic cancers VAR_045157 commonName VAR_045157 VAR_045158 comment A sporadic cancer VAR_045158 commonName VAR_045158 VAR_045159 comment Sporadic cancers VAR_045159 commonName VAR_045159 VAR_045160 comment Sporadic cancers VAR_045160 commonName VAR_045160 VAR_045161 comment Sporadic cancers VAR_045161 commonName VAR_045161 VAR_045162 comment Sporadic cancers VAR_045162 commonName VAR_045162 VAR_045163 comment Sporadic cancers VAR_045163 commonName VAR_045163 VAR_045164 comment Sporadic cancers VAR_045164 commonName VAR_045164 VAR_045165 comment Sporadic cancers VAR_045165 commonName VAR_045165 VAR_045166 comment Sporadic cancers VAR_045166 commonName VAR_045166 VAR_045167 comment Sporadic cancers VAR_045167 commonName VAR_045167 VAR_045168 comment Sporadic cancers VAR_045168 commonName VAR_045168 VAR_045169 comment Sporadic cancers VAR_045169 commonName VAR_045169 VAR_045170 comment Sporadic cancers VAR_045170 commonName VAR_045170 VAR_045171 comment Sporadic cancers VAR_045171 commonName VAR_045171 VAR_045172 comment Sporadic cancers VAR_045172 commonName VAR_045172 VAR_045173 comment Sporadic cancers VAR_045173 commonName VAR_045173 VAR_045174 comment Sporadic cancers VAR_045174 commonName VAR_045174 VAR_045175 commonName VAR_045175 VAR_045175 disease phenotype-associated VAR_045175 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_045176 comment Sporadic cancers VAR_045176 commonName VAR_045176 VAR_045177 comment A sporadic cancer VAR_045177 commonName VAR_045177 VAR_045178 comment Sporadic cancers VAR_045178 commonName VAR_045178 VAR_045179 comment Sporadic cancers VAR_045179 commonName VAR_045179 VAR_045180 comment Sporadic cancers VAR_045180 commonName VAR_045180 VAR_045181 comment A sporadic cancer VAR_045181 commonName VAR_045181 VAR_045182 comment Sporadic cancers VAR_045182 commonName VAR_045182 VAR_045183 comment Sporadic cancers VAR_045183 commonName VAR_045183 VAR_045184 comment A sporadic cancer VAR_045184 commonName VAR_045184 VAR_045185 comment Sporadic cancers VAR_045185 commonName VAR_045185 VAR_045186 commonName VAR_045186 VAR_045186 disease phenotype-associated VAR_045186 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_045187 comment Sporadic cancers VAR_045187 commonName VAR_045187 VAR_045188 comment Sporadic cancers VAR_045188 commonName VAR_045188 VAR_045189 commonName VAR_045189 VAR_045189 disease phenotype-associated VAR_045189 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_045190 comment Sporadic cancers VAR_045190 commonName VAR_045190 VAR_045191 comment A sporadic cancer VAR_045191 commonName VAR_045191 VAR_045192 comment Sporadic cancers VAR_045192 commonName VAR_045192 VAR_045193 comment Sporadic cancers VAR_045193 commonName VAR_045193 VAR_045194 comment Sporadic cancers VAR_045194 commonName VAR_045194 VAR_045195 comment Sporadic cancers VAR_045195 commonName VAR_045195 VAR_045196 comment Sporadic cancers VAR_045196 commonName VAR_045196 VAR_045197 comment Sporadic cancers VAR_045197 commonName VAR_045197 VAR_045198 comment Sporadic cancers VAR_045198 commonName VAR_045198 VAR_045199 comment Sporadic cancers VAR_045199 commonName VAR_045199 VAR_045200 commonName VAR_045200 VAR_045200 disease phenotype-associated VAR_045200 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_045201 comment Sporadic cancers VAR_045201 commonName VAR_045201 VAR_045202 commonName VAR_045202 VAR_045202 disease phenotype-associated VAR_045202 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_045203 comment Sporadic cancers VAR_045203 commonName VAR_045203 VAR_045204 comment Sporadic cancers VAR_045204 commonName VAR_045204 VAR_045205 comment A sporadic cancer VAR_045205 commonName VAR_045205 VAR_045206 comment A sporadic cancer VAR_045206 commonName VAR_045206 VAR_045207 comment Sporadic cancers VAR_045207 commonName VAR_045207 VAR_045208 comment Sporadic cancers VAR_045208 commonName VAR_045208 VAR_045209 comment Sporadic cancers VAR_045209 commonName VAR_045209 VAR_045210 comment Sporadic cancers VAR_045210 commonName VAR_045210 VAR_045211 comment Sporadic cancers VAR_045211 commonName VAR_045211 VAR_045212 comment Sporadic cancers VAR_045212 commonName VAR_045212 VAR_045213 comment Sporadic cancers VAR_045213 commonName VAR_045213 VAR_045214 comment A sporadic cancer VAR_045214 commonName VAR_045214 VAR_045215 comment Sporadic cancers VAR_045215 commonName VAR_045215 VAR_045216 comment Sporadic cancers VAR_045216 commonName VAR_045216 VAR_045217 comment Sporadic cancers VAR_045217 commonName VAR_045217 VAR_045218 comment Sporadic cancers VAR_045218 commonName VAR_045218 VAR_045219 comment Sporadic cancers VAR_045219 commonName VAR_045219 VAR_045220 comment Sporadic cancers VAR_045220 commonName VAR_045220 VAR_045221 comment Sporadic cancers VAR_045221 commonName VAR_045221 VAR_045222 comment Sporadic cancers VAR_045222 commonName VAR_045222 VAR_045223 comment Sporadic cancers VAR_045223 commonName VAR_045223 VAR_045224 comment A familial cancer not matching LFS VAR_045224 commonName VAR_045224 VAR_045225 comment Sporadic cancers VAR_045225 commonName VAR_045225 VAR_045226 comment Sporadic cancers VAR_045226 commonName VAR_045226 VAR_045227 comment Sporadic cancers VAR_045227 commonName VAR_045227 VAR_045228 comment Sporadic cancers VAR_045228 commonName VAR_045228 VAR_045229 comment Sporadic cancers VAR_045229 commonName VAR_045229 VAR_045230 comment Sporadic cancers VAR_045230 commonName VAR_045230 VAR_045231 comment Sporadic cancers VAR_045231 commonName VAR_045231 VAR_045232 commonName VAR_045232 VAR_045232 disease phenotype-associated VAR_045232 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_045233 comment A sporadic cancer VAR_045233 commonName VAR_045233 VAR_045234 comment Sporadic cancers VAR_045234 commonName VAR_045234 VAR_045235 comment Sporadic cancers VAR_045235 commonName VAR_045235 VAR_045236 commonName VAR_045236 VAR_045236 disease phenotype-associated VAR_045236 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_045237 comment A sporadic cancer VAR_045237 commonName VAR_045237 VAR_045238 comment Sporadic cancers VAR_045238 commonName VAR_045238 VAR_045239 comment Sporadic cancers VAR_045239 commonName VAR_045239 VAR_045240 comment Sporadic cancers VAR_045240 commonName VAR_045240 VAR_045241 comment Sporadic cancers VAR_045241 commonName VAR_045241 VAR_045242 comment Sporadic cancers VAR_045242 commonName VAR_045242 VAR_045243 comment Sporadic cancers VAR_045243 commonName VAR_045243 VAR_045244 comment Sporadic cancers VAR_045244 commonName VAR_045244 VAR_045245 comment A sporadic cancer VAR_045245 commonName VAR_045245 VAR_045246 comment Sporadic cancers VAR_045246 commonName VAR_045246 VAR_045247 comment A sporadic cancer VAR_045247 commonName VAR_045247 VAR_045248 comment Sporadic cancers VAR_045248 commonName VAR_045248 VAR_045249 comment Sporadic cancers VAR_045249 commonName VAR_045249 VAR_045250 comment Sporadic cancers VAR_045250 commonName VAR_045250 VAR_045251 comment Sporadic cancers VAR_045251 commonName VAR_045251 VAR_045252 comment Sporadic cancers VAR_045252 commonName VAR_045252 VAR_045253 comment Sporadic cancers VAR_045253 commonName VAR_045253 VAR_045254 comment Sporadic cancers VAR_045254 commonName VAR_045254 VAR_045255 comment Sporadic cancers VAR_045255 commonName VAR_045255 VAR_045256 comment Sporadic cancers VAR_045256 commonName VAR_045256 VAR_045257 comment Sporadic cancers VAR_045257 commonName VAR_045257 VAR_045258 commonName VAR_045258 VAR_045258 disease phenotype-associated VAR_045258 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_045259 comment Sporadic cancers VAR_045259 commonName VAR_045259 VAR_045260 comment Sporadic cancers VAR_045260 commonName VAR_045260 VAR_045261 comment Sporadic cancers VAR_045261 commonName VAR_045261 VAR_045262 comment A sporadic cancer VAR_045262 commonName VAR_045262 VAR_045263 comment Sporadic cancers VAR_045263 commonName VAR_045263 VAR_045264 comment A sporadic cancer VAR_045264 commonName VAR_045264 VAR_045265 comment Sporadic cancers VAR_045265 commonName VAR_045265 VAR_045266 comment Sporadic cancers VAR_045266 commonName VAR_045266 VAR_045267 comment Sporadic cancers VAR_045267 commonName VAR_045267 VAR_045268 comment Sporadic cancers VAR_045268 commonName VAR_045268 VAR_045269 comment A sporadic cancer VAR_045269 commonName VAR_045269 VAR_045270 comment A sporadic cancer VAR_045270 commonName VAR_045270 VAR_045271 comment A sporadic cancer VAR_045271 commonName VAR_045271 VAR_045272 comment Sporadic cancers VAR_045272 commonName VAR_045272 VAR_045273 comment Sporadic cancers VAR_045273 commonName VAR_045273 VAR_045274 comment Sporadic cancers VAR_045274 commonName VAR_045274 VAR_045275 comment Sporadic cancers VAR_045275 commonName VAR_045275 VAR_045276 comment Sporadic cancers VAR_045276 commonName VAR_045276 VAR_045277 comment Sporadic cancers VAR_045277 commonName VAR_045277 VAR_045278 comment Sporadic cancers VAR_045278 commonName VAR_045278 VAR_045279 comment Sporadic cancers VAR_045279 commonName VAR_045279 VAR_045280 comment A brain tumor with no family history VAR_045280 commonName VAR_045280 VAR_045281 comment Sporadic cancers VAR_045281 commonName VAR_045281 VAR_045282 comment Sporadic cancers VAR_045282 commonName VAR_045282 VAR_045283 comment Sporadic cancers VAR_045283 commonName VAR_045283 VAR_045284 commonName VAR_045284 VAR_045284 disease phenotype-associated VAR_045284 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_045285 comment Sporadic cancers VAR_045285 commonName VAR_045285 VAR_045286 comment Sporadic cancers VAR_045286 commonName VAR_045286 VAR_045287 comment Sporadic cancers VAR_045287 commonName VAR_045287 VAR_045288 comment Sporadic cancers VAR_045288 commonName VAR_045288 VAR_045289 comment Sporadic cancers VAR_045289 commonName VAR_045289 VAR_045290 comment Sporadic cancers VAR_045290 commonName VAR_045290 VAR_045291 comment Sporadic cancers VAR_045291 commonName VAR_045291 VAR_045292 comment Sporadic cancers VAR_045292 commonName VAR_045292 VAR_045293 comment Sporadic cancers VAR_045293 commonName VAR_045293 VAR_045294 comment Sporadic cancers VAR_045294 commonName VAR_045294 VAR_045295 comment Sporadic cancers VAR_045295 commonName VAR_045295 VAR_045296 comment Sporadic cancers VAR_045296 commonName VAR_045296 VAR_045297 comment Sporadic cancers VAR_045297 commonName VAR_045297 VAR_045298 comment Sporadic cancers VAR_045298 commonName VAR_045298 VAR_045299 comment Sporadic cancers VAR_045299 commonName VAR_045299 VAR_045300 comment A sporadic cancer VAR_045300 commonName VAR_045300 VAR_045301 comment Sporadic cancers VAR_045301 commonName VAR_045301 VAR_045302 comment A sporadic cancer VAR_045302 commonName VAR_045302 VAR_045303 comment Sporadic cancers VAR_045303 commonName VAR_045303 VAR_045304 comment Sporadic cancers VAR_045304 commonName VAR_045304 VAR_045305 comment A sporadic cancer VAR_045305 commonName VAR_045305 VAR_045306 comment Sporadic cancers VAR_045306 commonName VAR_045306 VAR_045307 comment A sporadic cancer VAR_045307 commonName VAR_045307 VAR_045308 comment Sporadic cancers VAR_045308 commonName VAR_045308 VAR_045309 comment Sporadic cancers VAR_045309 commonName VAR_045309 VAR_045310 comment Sporadic cancers VAR_045310 commonName VAR_045310 VAR_045311 comment Sporadic cancers VAR_045311 commonName VAR_045311 VAR_045312 comment Sporadic cancers VAR_045312 commonName VAR_045312 VAR_045313 comment A sporadic cancer VAR_045313 commonName VAR_045313 VAR_045314 comment A sporadic cancer VAR_045314 commonName VAR_045314 VAR_045315 comment Sporadic cancers VAR_045315 commonName VAR_045315 VAR_045316 comment A sporadic cancer VAR_045316 commonName VAR_045316 VAR_045317 comment A sporadic cancer VAR_045317 commonName VAR_045317 VAR_045318 comment Sporadic cancers VAR_045318 commonName VAR_045318 VAR_045319 comment A sporadic cancer VAR_045319 commonName VAR_045319 VAR_045320 comment Sporadic cancers VAR_045320 commonName VAR_045320 VAR_045321 commonName VAR_045321 VAR_045321 disease phenotype-associated VAR_045321 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_045322 comment Sporadic cancers VAR_045322 commonName VAR_045322 VAR_045323 comment Sporadic cancers VAR_045323 commonName VAR_045323 VAR_045324 comment Sporadic cancers VAR_045324 commonName VAR_045324 VAR_045325 comment Sporadic cancers VAR_045325 commonName VAR_045325 VAR_045326 comment Sporadic cancers VAR_045326 commonName VAR_045326 VAR_045327 comment Sporadic cancers VAR_045327 commonName VAR_045327 VAR_045328 comment A sporadic cancer VAR_045328 commonName VAR_045328 VAR_045329 comment Sporadic cancers VAR_045329 commonName VAR_045329 VAR_045330 commonName VAR_045330 VAR_045330 disease phenotype-associated VAR_045330 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_045331 comment Sporadic cancers VAR_045331 commonName VAR_045331 VAR_045332 comment Sporadic cancers VAR_045332 commonName VAR_045332 VAR_045333 comment A sporadic cancer VAR_045333 commonName VAR_045333 VAR_045334 comment Sporadic cancers VAR_045334 commonName VAR_045334 VAR_045335 comment A sporadic cancer VAR_045335 commonName VAR_045335 VAR_045336 comment Sporadic cancers VAR_045336 commonName VAR_045336 VAR_045337 comment Sporadic cancers VAR_045337 commonName VAR_045337 VAR_045338 comment Sporadic cancers VAR_045338 commonName VAR_045338 VAR_045339 comment Sporadic cancers VAR_045339 commonName VAR_045339 VAR_045340 comment A sporadic cancer VAR_045340 commonName VAR_045340 VAR_045341 comment Sporadic cancers VAR_045341 commonName VAR_045341 VAR_045342 comment Sporadic cancers VAR_045342 commonName VAR_045342 VAR_045343 comment Sporadic cancers VAR_045343 commonName VAR_045343 VAR_045344 comment Sporadic cancers VAR_045344 commonName VAR_045344 VAR_045345 comment Sporadic cancers VAR_045345 commonName VAR_045345 VAR_045346 comment Sporadic cancers VAR_045346 commonName VAR_045346 VAR_045347 comment Sporadic cancers VAR_045347 commonName VAR_045347 VAR_045348 comment Sporadic cancers VAR_045348 commonName VAR_045348 VAR_045349 comment Sporadic cancers VAR_045349 commonName VAR_045349 VAR_045350 comment Sporadic cancers VAR_045350 commonName VAR_045350 VAR_045351 comment A familial cancer not matching LFS VAR_045351 commonName VAR_045351 VAR_045352 comment Sporadic cancers VAR_045352 commonName VAR_045352 VAR_045353 comment Sporadic cancers VAR_045353 commonName VAR_045353 VAR_045354 comment Sporadic cancers VAR_045354 commonName VAR_045354 VAR_045355 comment Sporadic cancers VAR_045355 commonName VAR_045355 VAR_045356 comment Sporadic cancers VAR_045356 commonName VAR_045356 VAR_045357 comment A familial cancer not matching LFS VAR_045357 commonName VAR_045357 VAR_045358 comment Sporadic cancers VAR_045358 commonName VAR_045358 VAR_045359 comment Sporadic cancers VAR_045359 commonName VAR_045359 VAR_045360 comment Sporadic cancers VAR_045360 commonName VAR_045360 VAR_045361 comment Sporadic cancers VAR_045361 commonName VAR_045361 VAR_045362 comment Sporadic cancers VAR_045362 commonName VAR_045362 VAR_045363 comment Sporadic cancers VAR_045363 commonName VAR_045363 VAR_045364 comment Sporadic cancers VAR_045364 commonName VAR_045364 VAR_045365 comment Sporadic cancers VAR_045365 commonName VAR_045365 VAR_045366 comment Sporadic cancers VAR_045366 commonName VAR_045366 VAR_045367 comment Sporadic cancers VAR_045367 commonName VAR_045367 VAR_045368 comment Sporadic cancers VAR_045368 commonName VAR_045368 VAR_045369 comment Sporadic cancers VAR_045369 commonName VAR_045369 VAR_045370 comment Sporadic cancers VAR_045370 commonName VAR_045370 VAR_045371 comment Sporadic cancers VAR_045371 commonName VAR_045371 VAR_045372 comment Sporadic cancers VAR_045372 commonName VAR_045372 VAR_045373 comment Sporadic cancers VAR_045373 commonName VAR_045373 VAR_045374 comment Sporadic cancers VAR_045374 commonName VAR_045374 VAR_045375 comment An osteosarcoma with no family history VAR_045375 commonName VAR_045375 VAR_045376 comment Sporadic cancers VAR_045376 commonName VAR_045376 VAR_045377 comment Sporadic cancers VAR_045377 commonName VAR_045377 VAR_045378 comment Sporadic cancers VAR_045378 commonName VAR_045378 VAR_045379 comment Sporadic cancers VAR_045379 commonName VAR_045379 VAR_045380 comment Sporadic cancers VAR_045380 commonName VAR_045380 VAR_045381 comment A sporadic cancer VAR_045381 commonName VAR_045381 VAR_045382 comment Sporadic cancers VAR_045382 commonName VAR_045382 VAR_045383 comment Sporadic cancers VAR_045383 commonName VAR_045383 VAR_045384 commonName VAR_045384 VAR_045384 disease phenotype-associated VAR_045384 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_045385 comment A sporadic cancer VAR_045385 commonName VAR_045385 VAR_045386 comment Sporadic cancers VAR_045386 commonName VAR_045386 VAR_045387 comment A familial cancer not matching LFS VAR_045387 commonName VAR_045387 VAR_045388 comment Sporadic cancers VAR_045388 commonName VAR_045388 VAR_045389 comment A sporadic cancer VAR_045389 commonName VAR_045389 VAR_045390 comment Sporadic cancers VAR_045390 commonName VAR_045390 VAR_045391 comment Sporadic cancers VAR_045391 commonName VAR_045391 VAR_045392 comment A sporadic cancer VAR_045392 commonName VAR_045392 VAR_045393 comment Sporadic cancers VAR_045393 commonName VAR_045393 VAR_045394 comment Sporadic cancers VAR_045394 commonName VAR_045394 VAR_045395 comment Sporadic cancers VAR_045395 commonName VAR_045395 VAR_045396 comment Sporadic cancers VAR_045396 commonName VAR_045396 VAR_045397 comment Sporadic cancers VAR_045397 commonName VAR_045397 VAR_045398 comment Sporadic cancers VAR_045398 commonName VAR_045398 VAR_045399 comment Sporadic cancers VAR_045399 commonName VAR_045399 VAR_045400 comment A sporadic cancer VAR_045400 commonName VAR_045400 VAR_045401 comment Sporadic cancers VAR_045401 commonName VAR_045401 VAR_045402 comment Sporadic cancers VAR_045402 commonName VAR_045402 VAR_045403 comment Sporadic cancers VAR_045403 commonName VAR_045403 VAR_045404 comment Sporadic cancers VAR_045404 commonName VAR_045404 VAR_045405 comment Sporadic cancers VAR_045405 commonName VAR_045405 VAR_045406 comment Sporadic cancers VAR_045406 commonName VAR_045406 VAR_045407 comment Sporadic cancers VAR_045407 commonName VAR_045407 VAR_045408 comment A sporadic cancer VAR_045408 commonName VAR_045408 VAR_045409 comment Sporadic cancers VAR_045409 commonName VAR_045409 VAR_045410 comment Sporadic cancers VAR_045410 commonName VAR_045410 VAR_045411 commonName VAR_045411 VAR_045411 disease phenotype-associated VAR_045411 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_045412 commonName VAR_045412 VAR_045412 disease phenotype-associated VAR_045412 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_045413 comment Sporadic cancers VAR_045413 commonName VAR_045413 VAR_045414 comment Sporadic cancers VAR_045414 commonName VAR_045414 VAR_045415 comment Sporadic cancers VAR_045415 commonName VAR_045415 VAR_045416 comment Sporadic cancers VAR_045416 commonName VAR_045416 VAR_045417 comment Sporadic cancers VAR_045417 commonName VAR_045417 VAR_045418 comment Sporadic cancers VAR_045418 commonName VAR_045418 VAR_045419 comment Sporadic cancers VAR_045419 commonName VAR_045419 VAR_045420 comment A sporadic cancer VAR_045420 commonName VAR_045420 VAR_045421 comment Sporadic cancers VAR_045421 commonName VAR_045421 VAR_045422 comment Sporadic cancers VAR_045422 commonName VAR_045422 VAR_045423 comment A sporadic cancer VAR_045423 commonName VAR_045423 VAR_045424 comment Sporadic cancers VAR_045424 commonName VAR_045424 VAR_045425 comment Sporadic cancers VAR_045425 commonName VAR_045425 VAR_045426 comment A brain tumor with no family history VAR_045426 commonName VAR_045426 VAR_045427 comment A sporadic cancer VAR_045427 commonName VAR_045427 VAR_045428 comment Sporadic cancers VAR_045428 commonName VAR_045428 VAR_045429 comment Sporadic cancers VAR_045429 commonName VAR_045429 VAR_045430 comment Sporadic cancers VAR_045430 commonName VAR_045430 VAR_045431 comment Sporadic cancers VAR_045431 commonName VAR_045431 VAR_045432 comment A sporadic cancer VAR_045432 commonName VAR_045432 VAR_045433 comment Sporadic cancers VAR_045433 commonName VAR_045433 VAR_045434 comment A sporadic cancer VAR_045434 commonName VAR_045434 VAR_045435 comment Sporadic cancers VAR_045435 commonName VAR_045435 VAR_045436 comment Sporadic cancers VAR_045436 commonName VAR_045436 VAR_045437 comment Sporadic cancers VAR_045437 commonName VAR_045437 VAR_045438 comment Sporadic cancers VAR_045438 commonName VAR_045438 VAR_045439 comment A sporadic cancer VAR_045439 commonName VAR_045439 VAR_045440 comment Sporadic cancers VAR_045440 commonName VAR_045440 VAR_045441 comment A sporadic cancer VAR_045441 commonName VAR_045441 VAR_045442 comment A sporadic cancer VAR_045442 commonName VAR_045442 VAR_045443 comment Sporadic cancers VAR_045443 commonName VAR_045443 VAR_045444 comment Sporadic cancers VAR_045444 commonName VAR_045444 VAR_045445 comment Sporadic cancers VAR_045445 commonName VAR_045445 VAR_045446 comment A sporadic cancer VAR_045446 commonName VAR_045446 VAR_045447 comment Sporadic cancers VAR_045447 commonName VAR_045447 VAR_045448 comment Sporadic cancers VAR_045448 commonName VAR_045448 VAR_045449 comment Sporadic cancers VAR_045449 commonName VAR_045449 VAR_045450 comment Sporadic cancers VAR_045450 commonName VAR_045450 VAR_045451 comment Sporadic cancers VAR_045451 commonName VAR_045451 VAR_045452 comment Sporadic cancers VAR_045452 commonName VAR_045452 VAR_045453 comment A sporadic cancer VAR_045453 commonName VAR_045453 VAR_045454 comment A sporadic cancer VAR_045454 commonName VAR_045454 VAR_045455 comment Sporadic cancers VAR_045455 commonName VAR_045455 VAR_045456 comment Sporadic cancers VAR_045456 commonName VAR_045456 VAR_045457 comment Sporadic cancers VAR_045457 commonName VAR_045457 VAR_045458 comment Sporadic cancers VAR_045458 commonName VAR_045458 VAR_045459 comment Sporadic cancers VAR_045459 commonName VAR_045459 VAR_045460 comment Sporadic cancers VAR_045460 commonName VAR_045460 VAR_045461 comment A sporadic cancer VAR_045461 commonName VAR_045461 VAR_045462 comment A sporadic cancer VAR_045462 commonName VAR_045462 VAR_045463 comment Sporadic cancers VAR_045463 commonName VAR_045463 VAR_045464 comment Sporadic cancers VAR_045464 commonName VAR_045464 VAR_045465 comment Sporadic cancers VAR_045465 commonName VAR_045465 VAR_045466 comment Sporadic cancers VAR_045466 commonName VAR_045466 VAR_045467 comment Sporadic cancers VAR_045467 commonName VAR_045467 VAR_045468 comment Sporadic cancers VAR_045468 commonName VAR_045468 VAR_045469 comment A sporadic cancer VAR_045469 commonName VAR_045469 VAR_045470 comment A sporadic cancer VAR_045470 commonName VAR_045470 VAR_045471 comment A familial cancer not matching LFS VAR_045471 commonName VAR_045471 VAR_045472 comment Sporadic cancers VAR_045472 commonName VAR_045472 VAR_045473 comment Sporadic cancers VAR_045473 commonName VAR_045473 VAR_045474 comment A sporadic cancer VAR_045474 commonName VAR_045474 VAR_045475 commonName VAR_045475 VAR_045475 disease phenotype-associated VAR_045475 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_045476 comment A sporadic cancer VAR_045476 commonName VAR_045476 VAR_045477 comment Sporadic cancers VAR_045477 commonName VAR_045477 VAR_045478 comment Sporadic cancers VAR_045478 commonName VAR_045478 VAR_045479 comment A sporadic cancer VAR_045479 commonName VAR_045479 VAR_045480 comment A sporadic cancer VAR_045480 commonName VAR_045480 VAR_045481 comment A sporadic cancer VAR_045481 commonName VAR_045481 VAR_045482 comment Sporadic cancers VAR_045482 commonName VAR_045482 VAR_045483 comment Sporadic cancers VAR_045483 commonName VAR_045483 VAR_045484 comment A sporadic cancer VAR_045484 commonName VAR_045484 VAR_045485 comment A sporadic cancer VAR_045485 commonName VAR_045485 VAR_045486 comment Sporadic cancers VAR_045486 commonName VAR_045486 VAR_045487 comment Sporadic cancers VAR_045487 commonName VAR_045487 VAR_045488 comment Sporadic cancers VAR_045488 commonName VAR_045488 VAR_045489 comment A sporadic cancer VAR_045489 commonName VAR_045489 VAR_045490 comment A sporadic cancer VAR_045490 commonName VAR_045490 VAR_045491 comment A sporadic cancer VAR_045491 commonName VAR_045491 VAR_045492 comment A sporadic cancer VAR_045492 commonName VAR_045492 VAR_045493 comment A sporadic cancer VAR_045493 commonName VAR_045493 VAR_045494 comment A sporadic cancer VAR_045494 commonName VAR_045494 VAR_045495 comment A sporadic cancer VAR_045495 commonName VAR_045495 VAR_045496 comment A sporadic cancer VAR_045496 commonName VAR_045496 VAR_045497 comment A sporadic cancer VAR_045497 commonName VAR_045497 VAR_045498 comment A sporadic cancer VAR_045498 commonName VAR_045498 VAR_045499 comment A kidney cancer with no family history VAR_045499 commonName VAR_045499 VAR_045500 comment Sporadic cancers VAR_045500 commonName VAR_045500 VAR_045501 comment A sporadic cancer VAR_045501 commonName VAR_045501 VAR_045502 comment Sporadic cancers VAR_045502 commonName VAR_045502 VAR_045503 comment Sporadic cancers VAR_045503 commonName VAR_045503 VAR_045504 comment Sporadic cancers VAR_045504 commonName VAR_045504 VAR_045505 comment A sporadic cancer VAR_045505 commonName VAR_045505 VAR_045506 comment A sporadic cancer VAR_045506 commonName VAR_045506 VAR_045507 comment Sporadic cancers VAR_045507 commonName VAR_045507 VAR_045508 comment Kidney cancer VAR_045508 commonName VAR_045508 VAR_045509 comment A sporadic cancer VAR_045509 commonName VAR_045509 VAR_045510 comment Sporadic cancers VAR_045510 commonName VAR_045510 VAR_045511 comment Sporadic cancers VAR_045511 commonName VAR_045511 VAR_045512 comment A sporadic cancer VAR_045512 commonName VAR_045512 VAR_045513 comment A sporadic cancer VAR_045513 commonName VAR_045513 VAR_045514 comment A sporadic cancer VAR_045514 commonName VAR_045514 VAR_045515 comment Sporadic cancers VAR_045515 commonName VAR_045515 VAR_045516 comment A sporadic cancer VAR_045516 commonName VAR_045516 VAR_045517 comment A sporadic cancer VAR_045517 commonName VAR_045517 VAR_045518 comment Sporadic cancers VAR_045518 commonName VAR_045518 VAR_045519 comment A sporadic cancer VAR_045519 commonName VAR_045519 VAR_045520 comment A sporadic cancer VAR_045520 commonName VAR_045520 VAR_045521 comment A sporadic cancer VAR_045521 commonName VAR_045521 VAR_045522 comment A sporadic cancer VAR_045522 commonName VAR_045522 VAR_045523 comment Sporadic cancers VAR_045523 commonName VAR_045523 VAR_045524 comment A sporadic cancer VAR_045524 commonName VAR_045524 VAR_045525 comment A sporadic cancer VAR_045525 commonName VAR_045525 VAR_045526 comment A sporadic cancer VAR_045526 commonName VAR_045526 VAR_045527 comment Sporadic cancers VAR_045527 commonName VAR_045527 VAR_045528 comment Sporadic cancers VAR_045528 commonName VAR_045528 VAR_045529 comment Sporadic cancers VAR_045529 commonName VAR_045529 VAR_045530 comment Sporadic cancers VAR_045530 commonName VAR_045530 VAR_045531 comment Sporadic cancers VAR_045531 commonName VAR_045531 VAR_045532 comment A sporadic cancer VAR_045532 commonName VAR_045532 VAR_045533 comment A sporadic cancer VAR_045533 commonName VAR_045533 VAR_045534 comment A sporadic cancer VAR_045534 commonName VAR_045534 VAR_045535 comment A sporadic cancer VAR_045535 commonName VAR_045535 VAR_045536 comment A sporadic cancer VAR_045536 commonName VAR_045536 VAR_045537 comment Sporadic cancers VAR_045537 commonName VAR_045537 VAR_045538 comment Sporadic cancers VAR_045538 commonName VAR_045538 VAR_045539 comment A sporadic cancer VAR_045539 commonName VAR_045539 VAR_045540 comment A sporadic cancer VAR_045540 commonName VAR_045540 VAR_045541 comment A sporadic cancer VAR_045541 commonName VAR_045541 VAR_045542 comment Sporadic cancers VAR_045542 commonName VAR_045542 VAR_045543 comment A sporadic cancer VAR_045543 commonName VAR_045543 VAR_045544 comment Sporadic cancers VAR_045544 commonName VAR_045544 VAR_045545 comment Sporadic cancers VAR_045545 commonName VAR_045545 VAR_045546 commonName VAR_045546 VAR_045546 disease phenotype-associated VAR_045546 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_045547 comment A sporadic cancer VAR_045547 commonName VAR_045547 VAR_045576 commonName VAR_045576 VAR_045576 disease not phenotype-associated VAR_045581 comment A colorectal adenocarcinoma sample VAR_045581 commonName VAR_045581 VAR_045582 commonName VAR_045582 VAR_045582 disease not phenotype-associated VAR_045591 comment An ovarian undifferentiated carcinoma sample VAR_045591 commonName VAR_045591 VAR_045596 commonName VAR_045596 VAR_045596 disease not phenotype-associated VAR_045597 comment A lung neuroendocrine carcinoma sample VAR_045597 commonName VAR_045597 VAR_045598 commonName VAR_045598 VAR_045598 disease not phenotype-associated VAR_045599 commonName VAR_045599 VAR_045599 disease not phenotype-associated VAR_045600 commonName VAR_045600 VAR_045600 disease not phenotype-associated VAR_045601 commonName VAR_045601 VAR_045601 disease not phenotype-associated VAR_045606 commonName VAR_045606 VAR_045606 disease not phenotype-associated VAR_045607 commonName VAR_045607 VAR_045607 disease not phenotype-associated VAR_045608 commonName VAR_045608 VAR_045608 disease not phenotype-associated VAR_045609 commonName VAR_045609 VAR_045609 disease not phenotype-associated VAR_045610 commonName VAR_045610 VAR_045610 disease not phenotype-associated VAR_045612 commonName VAR_045612 VAR_045612 disease not phenotype-associated VAR_045620 commonName VAR_045620 VAR_045620 disease not phenotype-associated VAR_045624 commonName VAR_045624 VAR_045624 disease not phenotype-associated VAR_045625 commonName VAR_045625 VAR_045625 disease not phenotype-associated VAR_045626 commonName VAR_045626 VAR_045626 disease not phenotype-associated VAR_045627 commonName VAR_045627 VAR_045627 disease not phenotype-associated VAR_045628 commonName VAR_045628 VAR_045628 disease not phenotype-associated VAR_045632 commonName VAR_045632 VAR_045632 disease not phenotype-associated VAR_045648 commonName VAR_045648 VAR_045648 disease not phenotype-associated VAR_045649 commonName VAR_045649 VAR_045649 disease not phenotype-associated VAR_045650 commonName VAR_045650 VAR_045650 disease not phenotype-associated VAR_045651 commonName VAR_045651 VAR_045651 disease not phenotype-associated VAR_045652 commonName VAR_045652 VAR_045652 disease not phenotype-associated VAR_045653 commonName VAR_045653 VAR_045653 disease not phenotype-associated VAR_045654 commonName VAR_045654 VAR_045654 disease not phenotype-associated VAR_045655 commonName VAR_045655 VAR_045655 disease phenotype-associated VAR_045655 phenoCommon Alopecia neurologic defects and endocrinopathy syndrome (ANES) [MIM:612079] VAR_045656 commonName VAR_045656 VAR_045656 disease not phenotype-associated VAR_045657 commonName VAR_045657 VAR_045657 disease phenotype-associated VAR_045657 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] VAR_045658 commonName VAR_045658 VAR_045658 disease phenotype-associated VAR_045658 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] VAR_045659 commonName VAR_045659 VAR_045659 disease phenotype-associated VAR_045659 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] VAR_045660 commonName VAR_045660 VAR_045660 disease phenotype-associated VAR_045660 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] VAR_045661 commonName VAR_045661 VAR_045661 disease phenotype-associated VAR_045661 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] VAR_045662 commonName VAR_045662 VAR_045662 disease phenotype-associated VAR_045662 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] VAR_045663 commonName VAR_045663 VAR_045663 disease phenotype-associated VAR_045663 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] VAR_045664 commonName VAR_045664 VAR_045664 disease phenotype-associated VAR_045664 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] VAR_045665 commonName VAR_045665 VAR_045665 disease phenotype-associated VAR_045665 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] VAR_045666 commonName VAR_045666 VAR_045666 disease phenotype-associated VAR_045666 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] VAR_045667 commonName VAR_045667 VAR_045667 disease phenotype-associated VAR_045667 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] VAR_045668 commonName VAR_045668 VAR_045668 disease phenotype-associated VAR_045668 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] VAR_045669 commonName VAR_045669 VAR_045669 disease phenotype-associated VAR_045669 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] VAR_045670 commonName VAR_045670 VAR_045671 commonName VAR_045671 VAR_045672 commonName VAR_045672 VAR_045678 comment A colorectal cancer sample VAR_045678 commonName VAR_045678 VAR_045682 commonName VAR_045682 VAR_045682 disease phenotype-associated VAR_045682 phenoCommon Deafness autosomal dominant type 15 (DFNA15) [MIM:602459] VAR_045683 commonName VAR_045683 VAR_045683 disease phenotype-associated VAR_045683 phenoCommon Deafness autosomal dominant type 15 (DFNA15) [MIM:602459] VAR_045684 commonName VAR_045684 VAR_045685 commonName VAR_045685 VAR_045686 commonName VAR_045686 VAR_045686 disease not phenotype-associated VAR_045687 commonName VAR_045687 VAR_045688 commonName VAR_045688 VAR_045690 commonName VAR_045690 VAR_045690 disease not phenotype-associated VAR_045691 commonName VAR_045691 VAR_045691 disease not phenotype-associated VAR_045692 commonName VAR_045692 VAR_045692 disease not phenotype-associated VAR_045693 commonName VAR_045693 VAR_045693 disease not phenotype-associated VAR_045694 commonName VAR_045694 VAR_045694 disease phenotype-associated VAR_045694 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045695 commonName VAR_045695 VAR_045695 disease phenotype-associated VAR_045695 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045695 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045696 commonName VAR_045696 VAR_045696 disease phenotype-associated VAR_045696 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045697 commonName VAR_045697 VAR_045697 disease phenotype-associated VAR_045697 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045698 commonName VAR_045698 VAR_045698 disease phenotype-associated VAR_045698 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045699 commonName VAR_045699 VAR_045699 disease phenotype-associated VAR_045699 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045700 commonName VAR_045700 VAR_045700 disease phenotype-associated VAR_045700 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045701 commonName VAR_045701 VAR_045701 disease phenotype-associated VAR_045701 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045702 commonName VAR_045702 VAR_045702 disease phenotype-associated VAR_045702 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045703 commonName VAR_045703 VAR_045703 disease phenotype-associated VAR_045703 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045704 commonName VAR_045704 VAR_045704 disease phenotype-associated VAR_045704 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045705 commonName VAR_045705 VAR_045705 disease phenotype-associated VAR_045705 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045706 commonName VAR_045706 VAR_045706 disease phenotype-associated VAR_045706 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045707 commonName VAR_045707 VAR_045707 disease phenotype-associated VAR_045707 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045708 commonName VAR_045708 VAR_045708 disease phenotype-associated VAR_045708 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045709 commonName VAR_045709 VAR_045709 disease phenotype-associated VAR_045709 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045710 commonName VAR_045710 VAR_045710 disease not phenotype-associated VAR_045711 commonName VAR_045711 VAR_045711 disease not phenotype-associated VAR_045712 commonName VAR_045712 VAR_045712 disease phenotype-associated VAR_045712 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045713 commonName VAR_045713 VAR_045713 disease phenotype-associated VAR_045713 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045714 commonName VAR_045714 VAR_045714 disease phenotype-associated VAR_045714 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045715 commonName VAR_045715 VAR_045715 disease phenotype-associated VAR_045715 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045716 commonName VAR_045716 VAR_045716 disease phenotype-associated VAR_045716 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045717 commonName VAR_045717 VAR_045717 disease phenotype-associated VAR_045717 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045718 commonName VAR_045718 VAR_045718 disease phenotype-associated VAR_045718 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045720 commonName VAR_045720 VAR_045720 disease phenotype-associated VAR_045720 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045721 commonName VAR_045721 VAR_045721 disease phenotype-associated VAR_045721 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045722 commonName VAR_045722 VAR_045722 disease phenotype-associated VAR_045722 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045723 commonName VAR_045723 VAR_045723 disease phenotype-associated VAR_045723 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045724 commonName VAR_045724 VAR_045724 disease phenotype-associated VAR_045724 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045725 commonName VAR_045725 VAR_045725 disease phenotype-associated VAR_045725 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045726 commonName VAR_045726 VAR_045726 disease phenotype-associated VAR_045726 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045727 commonName VAR_045727 VAR_045727 disease phenotype-associated VAR_045727 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045728 commonName VAR_045728 VAR_045728 disease phenotype-associated VAR_045728 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045729 commonName VAR_045729 VAR_045729 disease phenotype-associated VAR_045729 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045730 commonName VAR_045730 VAR_045730 disease phenotype-associated VAR_045730 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045731 commonName VAR_045731 VAR_045731 disease not phenotype-associated VAR_045732 commonName VAR_045732 VAR_045732 disease phenotype-associated VAR_045732 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045733 commonName VAR_045733 VAR_045733 disease phenotype-associated VAR_045733 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045734 commonName VAR_045734 VAR_045734 disease phenotype-associated VAR_045734 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045735 commonName VAR_045735 VAR_045735 disease phenotype-associated VAR_045735 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045736 commonName VAR_045736 VAR_045736 disease phenotype-associated VAR_045736 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045738 commonName VAR_045738 VAR_045738 disease phenotype-associated VAR_045738 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045739 commonName VAR_045739 VAR_045739 disease phenotype-associated VAR_045739 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045740 commonName VAR_045740 VAR_045740 disease phenotype-associated VAR_045740 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045741 commonName VAR_045741 VAR_045742 commonName VAR_045742 VAR_045742 disease phenotype-associated VAR_045742 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045744 commonName VAR_045744 VAR_045744 disease phenotype-associated VAR_045744 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045745 commonName VAR_045745 VAR_045745 disease phenotype-associated VAR_045745 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045746 commonName VAR_045746 VAR_045746 disease not phenotype-associated VAR_045747 commonName VAR_045747 VAR_045747 disease phenotype-associated VAR_045747 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045748 commonName VAR_045748 VAR_045748 disease phenotype-associated VAR_045748 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045749 commonName VAR_045749 VAR_045749 disease phenotype-associated VAR_045749 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045750 commonName VAR_045750 VAR_045750 disease phenotype-associated VAR_045750 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045751 commonName VAR_045751 VAR_045751 disease phenotype-associated VAR_045751 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045752 commonName VAR_045752 VAR_045752 disease phenotype-associated VAR_045752 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045753 commonName VAR_045753 VAR_045753 disease phenotype-associated VAR_045753 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045754 commonName VAR_045754 VAR_045754 disease phenotype-associated VAR_045754 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045755 commonName VAR_045755 VAR_045755 disease phenotype-associated VAR_045755 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045756 commonName VAR_045756 VAR_045756 disease phenotype-associated VAR_045756 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045757 commonName VAR_045757 VAR_045757 disease phenotype-associated VAR_045757 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045758 commonName VAR_045758 VAR_045758 disease phenotype-associated VAR_045758 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045759 commonName VAR_045759 VAR_045759 disease phenotype-associated VAR_045759 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045760 commonName VAR_045760 VAR_045760 disease phenotype-associated VAR_045760 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045760 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045762 commonName VAR_045762 VAR_045762 disease phenotype-associated VAR_045762 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045763 commonName VAR_045763 VAR_045763 disease phenotype-associated VAR_045763 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045765 commonName VAR_045765 VAR_045765 disease phenotype-associated VAR_045765 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045766 commonName VAR_045766 VAR_045766 disease phenotype-associated VAR_045766 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045767 commonName VAR_045767 VAR_045767 disease phenotype-associated VAR_045767 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045768 commonName VAR_045768 VAR_045768 disease phenotype-associated VAR_045768 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045769 commonName VAR_045769 VAR_045769 disease phenotype-associated VAR_045769 phenoCommon Central core disease of muscle (CCD) [MIM:117000] HbVar.683 protEffect HBB 7(A3) Glu>Val AND HBB 24(B5) Val>Ile VAR_045770 commonName VAR_045770 VAR_045770 disease phenotype-associated VAR_045770 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045771 commonName VAR_045771 VAR_045771 disease phenotype-associated VAR_045771 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045772 commonName VAR_045772 VAR_045772 disease phenotype-associated VAR_045772 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045773 commonName VAR_045773 VAR_045773 disease phenotype-associated VAR_045773 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045774 commonName VAR_045774 VAR_045774 disease phenotype-associated VAR_045774 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045775 commonName VAR_045775 VAR_045775 disease phenotype-associated VAR_045775 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045776 commonName VAR_045776 VAR_045776 disease phenotype-associated VAR_045776 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045778 commonName VAR_045778 VAR_045778 disease phenotype-associated VAR_045778 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045779 commonName VAR_045779 VAR_045779 disease phenotype-associated VAR_045779 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045780 commonName VAR_045780 VAR_045780 disease phenotype-associated VAR_045780 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_045781 commonName VAR_045781 VAR_045781 disease phenotype-associated VAR_045781 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045782 commonName VAR_045782 VAR_045782 disease phenotype-associated VAR_045782 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_045783 comment A sporadic cancer VAR_045783 commonName VAR_045783 VAR_045784 comment Sporadic cancers VAR_045784 commonName VAR_045784 VAR_045785 comment Sporadic cancers VAR_045785 commonName VAR_045785 VAR_045786 comment Sporadic cancers VAR_045786 commonName VAR_045786 VAR_045787 comment A sporadic cancer VAR_045787 commonName VAR_045787 VAR_045788 comment A sporadic cancer VAR_045788 commonName VAR_045788 VAR_045789 comment A sporadic cancer VAR_045789 commonName VAR_045789 VAR_045790 comment A sporadic cancer VAR_045790 commonName VAR_045790 VAR_045791 comment A sporadic cancer VAR_045791 commonName VAR_045791 VAR_045792 comment A sporadic cancer VAR_045792 commonName VAR_045792 VAR_045793 comment A sporadic cancer VAR_045793 commonName VAR_045793 VAR_045794 comment Sporadic cancers VAR_045794 commonName VAR_045794 VAR_045795 comment A sporadic cancer VAR_045795 commonName VAR_045795 VAR_045796 comment Sporadic cancers VAR_045796 commonName VAR_045796 VAR_045797 comment A sporadic cancer VAR_045797 commonName VAR_045797 VAR_045798 comment A sporadic cancer VAR_045798 commonName VAR_045798 VAR_045799 comment A sporadic cancer VAR_045799 commonName VAR_045799 VAR_045800 comment A sporadic cancer VAR_045800 commonName VAR_045800 VAR_045801 comment A sporadic cancer VAR_045801 commonName VAR_045801 VAR_045802 comment A sporadic cancer VAR_045802 commonName VAR_045802 VAR_045803 comment Sporadic cancers VAR_045803 commonName VAR_045803 VAR_045804 comment A sporadic cancer VAR_045804 commonName VAR_045804 VAR_045805 comment A sporadic cancer VAR_045805 commonName VAR_045805 VAR_045806 comment A sporadic cancer VAR_045806 commonName VAR_045806 VAR_045807 comment A sporadic cancer VAR_045807 commonName VAR_045807 VAR_045808 comment A sporadic cancer VAR_045808 commonName VAR_045808 VAR_045809 comment A sporadic cancer VAR_045809 commonName VAR_045809 VAR_045810 comment Sporadic cancers VAR_045810 commonName VAR_045810 VAR_045811 comment A sporadic cancer VAR_045811 commonName VAR_045811 VAR_045812 comment A sporadic cancer VAR_045812 commonName VAR_045812 VAR_045815 commonName VAR_045815 VAR_045815 disease not phenotype-associated VAR_045816 commonName VAR_045816 VAR_045816 disease not phenotype-associated VAR_045817 commonName VAR_045817 VAR_045817 disease not phenotype-associated VAR_045818 commonName VAR_045818 VAR_045818 disease not phenotype-associated VAR_045821 commonName VAR_045821 VAR_045821 disease not phenotype-associated VAR_045823 commonName VAR_045823 VAR_045823 disease not phenotype-associated VAR_045824 commonName VAR_045824 VAR_045824 disease not phenotype-associated VAR_045825 commonName VAR_045825 VAR_045825 disease not phenotype-associated VAR_045826 commonName VAR_045826 VAR_045826 disease not phenotype-associated VAR_045827 commonName VAR_045827 VAR_045827 disease not phenotype-associated VAR_045828 commonName VAR_045828 VAR_045828 disease not phenotype-associated VAR_045829 commonName VAR_045829 VAR_045829 disease not phenotype-associated VAR_045830 commonName VAR_045830 VAR_045830 disease not phenotype-associated VAR_045831 commonName VAR_045831 VAR_045831 disease not phenotype-associated VAR_045832 commonName VAR_045832 VAR_045832 disease not phenotype-associated VAR_045833 commonName VAR_045833 VAR_045833 disease not phenotype-associated VAR_045834 commonName VAR_045834 VAR_045834 disease not phenotype-associated VAR_045835 commonName VAR_045835 VAR_045835 disease not phenotype-associated VAR_045836 commonName VAR_045836 VAR_045836 disease not phenotype-associated VAR_045838 commonName VAR_045838 VAR_045838 disease phenotype-associated VAR_045838 phenoCommon Branchiooculofacial syndrome (BOFS) [MIM:113620] VAR_045839 commonName VAR_045839 VAR_045839 disease phenotype-associated VAR_045839 phenoCommon Branchiooculofacial syndrome (BOFS) [MIM:113620] VAR_045840 commonName VAR_045840 VAR_045840 disease phenotype-associated VAR_045840 phenoCommon Branchiooculofacial syndrome (BOFS) [MIM:113620] VAR_045841 commonName VAR_045841 VAR_045841 disease phenotype-associated VAR_045841 phenoCommon Branchiooculofacial syndrome (BOFS) [MIM:113620] VAR_045842 commonName VAR_045842 VAR_045842 disease not phenotype-associated VAR_045843 commonName VAR_045843 VAR_045843 disease not phenotype-associated VAR_045844 comment A sporadic cancer VAR_045844 commonName VAR_045844 VAR_045845 comment A sporadic cancer VAR_045845 commonName VAR_045845 VAR_045846 comment A sporadic cancer VAR_045846 commonName VAR_045846 VAR_045847 comment A sporadic cancer VAR_045847 commonName VAR_045847 VAR_045848 comment A sporadic cancer VAR_045848 commonName VAR_045848 VAR_045849 comment A sporadic cancer VAR_045849 commonName VAR_045849 VAR_045850 comment A sporadic cancer VAR_045850 commonName VAR_045850 VAR_045851 comment Sporadic cancers VAR_045851 commonName VAR_045851 VAR_045852 comment A sporadic cancer VAR_045852 commonName VAR_045852 VAR_045853 comment Sporadic cancers VAR_045853 commonName VAR_045853 VAR_045854 comment Sporadic cancers VAR_045854 commonName VAR_045854 VAR_045855 comment A sporadic cancer VAR_045855 commonName VAR_045855 VAR_045856 comment A sporadic cancer VAR_045856 commonName VAR_045856 VAR_045857 comment Sporadic cancers VAR_045857 commonName VAR_045857 VAR_045858 comment Sporadic cancers VAR_045858 commonName VAR_045858 VAR_045859 comment Sporadic cancers VAR_045859 commonName VAR_045859 VAR_045860 comment A sporadic cancer VAR_045860 commonName VAR_045860 VAR_045861 comment A sporadic cancer VAR_045861 commonName VAR_045861 VAR_045862 comment A sporadic cancer VAR_045862 commonName VAR_045862 VAR_045863 comment A sporadic cancer VAR_045863 commonName VAR_045863 VAR_045864 comment A sporadic cancer VAR_045864 commonName VAR_045864 VAR_045865 comment A sporadic cancer VAR_045865 commonName VAR_045865 VAR_045866 comment A sporadic cancer VAR_045866 commonName VAR_045866 VAR_045867 comment A sporadic cancer VAR_045867 commonName VAR_045867 VAR_045868 comment A sporadic cancer VAR_045868 commonName VAR_045868 VAR_045869 comment Sporadic cancers VAR_045869 commonName VAR_045869 VAR_045870 comment A sporadic cancer VAR_045870 commonName VAR_045870 VAR_045871 comment A sporadic cancer VAR_045871 commonName VAR_045871 VAR_045872 comment A sporadic cancer VAR_045872 commonName VAR_045872 VAR_045873 comment Sporadic cancers VAR_045873 commonName VAR_045873 VAR_045874 comment A sporadic cancer VAR_045874 commonName VAR_045874 VAR_045875 comment A sporadic cancer VAR_045875 commonName VAR_045875 VAR_045876 commonName VAR_045876 VAR_045876 disease phenotype-associated VAR_045876 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_045877 commonName VAR_045877 VAR_045877 disease phenotype-associated VAR_045877 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_045878 commonName VAR_045878 VAR_045878 disease phenotype-associated VAR_045878 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_045879 commonName VAR_045879 VAR_045879 disease phenotype-associated VAR_045879 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_045880 commonName VAR_045880 VAR_045880 disease phenotype-associated VAR_045880 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_045881 commonName VAR_045881 VAR_045881 disease phenotype-associated VAR_045881 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_045882 commonName VAR_045882 VAR_045882 disease phenotype-associated VAR_045882 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_045883 commonName VAR_045883 VAR_045883 disease phenotype-associated VAR_045883 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_045884 commonName VAR_045884 VAR_045884 disease phenotype-associated VAR_045884 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_045885 commonName VAR_045885 VAR_045885 disease phenotype-associated VAR_045885 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_045886 commonName VAR_045886 VAR_045886 disease not phenotype-associated VAR_045887 commonName VAR_045887 VAR_045887 disease not phenotype-associated VAR_045888 commonName VAR_045888 VAR_045888 disease not phenotype-associated VAR_045889 commonName VAR_045889 VAR_045889 disease not phenotype-associated VAR_045890 commonName VAR_045890 VAR_045890 disease not phenotype-associated VAR_045891 commonName VAR_045891 VAR_045891 disease not phenotype-associated VAR_045892 commonName VAR_045892 VAR_045892 disease not phenotype-associated VAR_045897 commonName VAR_045897 VAR_045897 disease not phenotype-associated VAR_045898 commonName VAR_045898 HbVar.683 commonName Hb S-Antilles VAR_045898 disease phenotype-associated VAR_045898 phenoCommon Spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:607259] VAR_045899 commonName VAR_045899 VAR_045899 disease phenotype-associated VAR_045899 phenoCommon Xanthinuria type 2 (XU2) [MIM:603592] VAR_045900 commonName VAR_045900 VAR_045900 disease phenotype-associated VAR_045900 phenoCommon Xanthinuria type 1 (XU1) [MIM:278300] VAR_045901 commonName VAR_045901 VAR_045901 disease not phenotype-associated VAR_045902 commonName VAR_045902 VAR_045902 disease phenotype-associated VAR_045902 phenoCommon Familial erythrocytosis type 3 (ECYT3) [MIM:609820] VAR_045903 commonName VAR_045903 VAR_045903 disease not phenotype-associated VAR_045904 commonName VAR_045904 VAR_045904 disease not phenotype-associated VAR_045906 commonName VAR_045906 VAR_045906 disease not phenotype-associated VAR_045908 commonName VAR_045908 VAR_045908 disease not phenotype-associated VAR_045909 commonName VAR_045909 VAR_045909 disease not phenotype-associated VAR_045910 commonName VAR_045910 VAR_045910 disease not phenotype-associated VAR_045911 commonName VAR_045911 VAR_045911 disease phenotype-associated VAR_045911 phenoCommon Mitochondrial complex III deficiency (MT-C3D) [MIM:124000] VAR_045912 commonName VAR_045912 VAR_045912 disease not phenotype-associated VAR_045915 commonName VAR_045915 VAR_045915 disease phenotype-associated VAR_045915 phenoCommon Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788] VAR_045916 commonName VAR_045916 VAR_045916 disease phenotype-associated VAR_045916 phenoCommon Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788] VAR_045917 commonName VAR_045917 VAR_045917 disease phenotype-associated VAR_045917 phenoCommon Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788] VAR_045918 commonName VAR_045918 VAR_045918 disease phenotype-associated VAR_045918 phenoCommon Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788] VAR_045919 commonName VAR_045919 VAR_045919 disease phenotype-associated VAR_045919 phenoCommon Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788] VAR_045920 commonName VAR_045920 VAR_045920 disease phenotype-associated VAR_045920 phenoCommon Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788] VAR_045921 commonName VAR_045921 VAR_045921 disease phenotype-associated VAR_045921 phenoCommon Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788] VAR_045922 commonName VAR_045922 VAR_045922 disease phenotype-associated VAR_045922 phenoCommon Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788] VAR_045924 commonName VAR_045924 VAR_045924 disease phenotype-associated VAR_045924 phenoCommon Familial hypertrophic cardiomyopathy type 11 (CMH11) [MIM:612098] VAR_045925 commonName VAR_045925 VAR_045925 disease phenotype-associated VAR_045925 phenoCommon Familial hypertrophic cardiomyopathy type 11 (CMH11) [MIM:612098] VAR_045926 commonName VAR_045926 VAR_045926 disease phenotype-associated VAR_045926 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_045927 commonName VAR_045927 VAR_045927 disease phenotype-associated VAR_045927 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_045928 commonName VAR_045928 VAR_045928 disease phenotype-associated VAR_045928 phenoCommon Familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600] VAR_045932 commonName VAR_045932 VAR_045932 disease phenotype-associated VAR_045932 phenoCommon Familial hypertrophic cardiomyopathy type 12 (CMH12) [MIM:612124] VAR_045934 commonName VAR_045934 VAR_045934 disease phenotype-associated VAR_045934 phenoCommon Familial hypertrophic cardiomyopathy type 12 (CMH12) [MIM:612124] VAR_045935 commonName VAR_045935 VAR_045935 disease phenotype-associated VAR_045935 phenoCommon Epilepsy, childhood absence type 6 (ECA6) [MIM:611942] VAR_045936 commonName VAR_045936 VAR_045936 disease phenotype-associated VAR_045936 phenoCommon Epilepsy, childhood absence type 6 (ECA6) [MIM:611942] VAR_045937 commonName VAR_045937 VAR_045937 disease not phenotype-associated VAR_045938 commonName VAR_045938 VAR_045938 disease phenotype-associated VAR_045938 phenoCommon Epilepsy, childhood absence type 6 (ECA6) [MIM:611942] VAR_045939 commonName VAR_045939 VAR_045939 disease phenotype-associated VAR_045939 phenoCommon Epilepsy, childhood absence type 6 (ECA6) [MIM:611942] VAR_045940 commonName VAR_045940 VAR_045940 disease not phenotype-associated VAR_045941 commonName VAR_045941 VAR_045941 disease phenotype-associated VAR_045941 phenoCommon Epilepsy, childhood absence type 6 (ECA6) [MIM:611942] VAR_045942 commonName VAR_045942 VAR_045942 disease not phenotype-associated VAR_045943 commonName VAR_045943 VAR_045943 disease not phenotype-associated VAR_045944 commonName VAR_045944 VAR_045944 disease phenotype-associated VAR_045944 phenoCommon Epilepsy, childhood absence type 6 (ECA6) [MIM:611942] VAR_045945 commonName VAR_045945 VAR_045945 disease phenotype-associated VAR_045945 phenoCommon Epilepsy, childhood absence type 6 (ECA6) [MIM:611942] VAR_045946 commonName VAR_045946 VAR_045946 disease phenotype-associated VAR_045946 phenoCommon Epilepsy, childhood absence type 6 (ECA6) [MIM:611942] VAR_045947 commonName VAR_045947 VAR_045947 disease phenotype-associated VAR_045947 phenoCommon Epilepsy, childhood absence type 6 (ECA6) [MIM:611942] VAR_045948 commonName VAR_045948 VAR_045948 disease not phenotype-associated VAR_045949 commonName VAR_045949 VAR_045949 disease not phenotype-associated VAR_045950 commonName VAR_045950 VAR_045950 disease phenotype-associated VAR_045950 phenoCommon Epilepsy, childhood absence type 6 (ECA6) [MIM:611942] VAR_045951 commonName VAR_045951 VAR_045951 disease phenotype-associated VAR_045951 phenoCommon Epilepsy, childhood absence type 6 (ECA6) [MIM:611942] VAR_045952 commonName VAR_045952 VAR_045952 disease phenotype-associated VAR_045952 phenoCommon Epilepsy, childhood absence type 6 (ECA6) [MIM:611942] VAR_045953 commonName VAR_045953 VAR_045953 disease not phenotype-associated VAR_045954 commonName VAR_045954 VAR_045954 disease not phenotype-associated VAR_045955 commonName VAR_045955 VAR_045955 disease not phenotype-associated VAR_045956 commonName VAR_045956 VAR_045956 disease not phenotype-associated VAR_045957 commonName VAR_045957 VAR_045957 disease phenotype-associated VAR_045957 phenoCommon Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650] VAR_045958 commonName VAR_045958 VAR_045958 disease phenotype-associated VAR_045958 phenoCommon Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650] VAR_045959 commonName VAR_045959 VAR_045959 disease phenotype-associated VAR_045959 phenoCommon Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650] VAR_045960 commonName VAR_045960 VAR_045960 disease phenotype-associated VAR_045960 phenoCommon Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650] VAR_045961 commonName VAR_045961 VAR_045961 disease not phenotype-associated VAR_045962 commonName VAR_045962 VAR_045962 disease phenotype-associated VAR_045962 phenoCommon Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650] VAR_045963 commonName VAR_045963 VAR_045963 disease phenotype-associated VAR_045963 phenoCommon Thyroid dyshormonogenesis 4 (TDH4) [MIM:274800] VAR_045965 commonName VAR_045965 VAR_045965 disease phenotype-associated VAR_045965 phenoCommon Thyroid dyshormonogenesis 4 (TDH4) [MIM:274800] VAR_045967 commonName VAR_045967 VAR_045967 disease phenotype-associated VAR_045967 phenoCommon Brooke-Spiegler syndrome (BRSS) [MIM:605041] VAR_045967 phenoCommon Multiple familial trichoepithelioma type 1 (MFT1) [MIM:601606] VAR_045968 commonName VAR_045968 VAR_045968 disease not phenotype-associated VAR_045969 commonName VAR_045969 VAR_045969 disease not phenotype-associated VAR_045970 commonName VAR_045970 VAR_045970 disease not phenotype-associated VAR_045971 commonName VAR_045971 VAR_045971 disease not phenotype-associated VAR_045972 commonName VAR_045972 VAR_045972 disease not phenotype-associated VAR_045973 commonName VAR_045973 VAR_045973 disease not phenotype-associated VAR_045974 commonName VAR_045974 VAR_045974 disease not phenotype-associated VAR_045975 commonName VAR_045975 VAR_045975 disease phenotype-associated VAR_045975 phenoCommon Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] VAR_045976 commonName VAR_045976 VAR_045976 disease phenotype-associated VAR_045976 phenoCommon Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] VAR_045977 commonName VAR_045977 VAR_045977 disease phenotype-associated VAR_045977 phenoCommon Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] VAR_045978 commonName VAR_045978 VAR_045978 disease phenotype-associated VAR_045978 phenoCommon Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] VAR_045979 comment Follicular thyroid carcinoma samples VAR_045979 commonName VAR_045979 VAR_045980 commonName VAR_045980 VAR_045980 disease phenotype-associated VAR_045980 phenoCommon Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] VAR_045981 commonName VAR_045981 VAR_045981 disease phenotype-associated VAR_045981 phenoCommon Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] VAR_045982 commonName VAR_045982 VAR_045982 disease phenotype-associated VAR_045982 phenoCommon Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] VAR_045983 commonName VAR_045983 VAR_045983 disease phenotype-associated VAR_045983 phenoCommon Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] VAR_045984 comment A Hurthle cell variant of papillary carcinoma sample VAR_045984 commonName VAR_045984 VAR_045985 comment A Hurthle cell variant of papillary carcinoma sample VAR_045985 commonName VAR_045985 VAR_045987 commonName VAR_045987 VAR_045987 disease not phenotype-associated VAR_045988 commonName VAR_045988 VAR_045988 disease not phenotype-associated VAR_045989 commonName VAR_045989 VAR_045989 disease not phenotype-associated VAR_045990 commonName VAR_045990 VAR_045990 disease not phenotype-associated VAR_045999 commonName VAR_045999 VAR_045999 disease phenotype-associated VAR_045999 phenoCommon X-linked severe early-onset reducing body myopathy (RBM) [MIM:300717] VAR_046000 commonName VAR_046000 VAR_046000 disease phenotype-associated VAR_046000 phenoCommon X-linked severe early-onset reducing body myopathy (RBM) [MIM:300717] VAR_046001 commonName VAR_046001 VAR_046001 disease phenotype-associated VAR_046001 phenoCommon X-linked severe early-onset reducing body myopathy (RBM) [MIM:300717] VAR_046002 commonName VAR_046002 VAR_046002 disease phenotype-associated VAR_046002 phenoCommon X-linked severe early-onset reducing body myopathy (RBM) [MIM:300717] VAR_046003 commonName VAR_046003 VAR_046003 disease phenotype-associated VAR_046003 phenoCommon Auditory neuropathy, autosomal recessive, type 1 (AUNB1) [MIM:601071] VAR_046004 commonName VAR_046004 VAR_046004 disease phenotype-associated VAR_046004 phenoCommon Auditory neuropathy, autosomal recessive, type 1 (AUNB1) [MIM:601071] VAR_046005 commonName VAR_046005 VAR_046005 disease phenotype-associated VAR_046005 phenoCommon Auditory neuropathy, autosomal recessive, type 1 (AUNB1) [MIM:601071] VAR_046006 commonName VAR_046006 VAR_046006 disease not phenotype-associated VAR_046007 commonName VAR_046007 VAR_046007 disease not phenotype-associated VAR_046008 commonName VAR_046008 VAR_046008 disease phenotype-associated VAR_046008 phenoCommon Auditory neuropathy, autosomal recessive, type 1 (AUNB1) [MIM:601071] VAR_046009 commonName VAR_046009 VAR_046009 disease not phenotype-associated VAR_046011 commonName VAR_046011 VAR_046011 disease not phenotype-associated VAR_046012 commonName VAR_046012 VAR_046012 disease phenotype-associated VAR_046012 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920] VAR_046013 commonName VAR_046013 VAR_046013 disease phenotype-associated VAR_046013 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920] VAR_046014 commonName VAR_046014 VAR_046014 disease phenotype-associated VAR_046014 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920] VAR_046015 commonName VAR_046015 VAR_046015 disease phenotype-associated VAR_046015 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920] VAR_046016 commonName VAR_046016 VAR_046016 disease phenotype-associated VAR_046016 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920] VAR_046017 commonName VAR_046017 VAR_046017 disease phenotype-associated VAR_046017 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920] VAR_046018 commonName VAR_046018 VAR_046018 disease phenotype-associated VAR_046018 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920] VAR_046019 commonName VAR_046019 VAR_046019 disease phenotype-associated VAR_046019 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920] VAR_046020 commonName VAR_046020 VAR_046020 disease phenotype-associated VAR_046020 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920] VAR_046021 commonName VAR_046021 VAR_046021 disease phenotype-associated VAR_046021 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920] VAR_046022 commonName VAR_046022 VAR_046022 disease phenotype-associated VAR_046022 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920] VAR_046023 commonName VAR_046023 VAR_046023 disease phenotype-associated VAR_046023 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920] VAR_046024 commonName VAR_046024 VAR_046024 disease phenotype-associated VAR_046024 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920] VAR_046025 commonName VAR_046025 VAR_046025 disease phenotype-associated VAR_046025 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920] VAR_046026 commonName VAR_046026 VAR_046026 disease phenotype-associated VAR_046026 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920] VAR_046027 commonName VAR_046027 VAR_046027 disease phenotype-associated VAR_046027 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920] VAR_046028 commonName VAR_046028 VAR_046028 disease phenotype-associated VAR_046028 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920] VAR_046029 commonName VAR_046029 VAR_046029 disease phenotype-associated VAR_046029 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920] VAR_046030 commonName VAR_046030 VAR_046030 disease phenotype-associated VAR_046030 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920] VAR_046031 commonName VAR_046031 VAR_046031 disease phenotype-associated VAR_046031 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920] VAR_046032 commonName VAR_046032 VAR_046032 disease phenotype-associated VAR_046032 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920] VAR_046033 commonName VAR_046033 VAR_046033 disease phenotype-associated VAR_046033 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920] VAR_046034 commonName VAR_046034 VAR_046034 disease phenotype-associated VAR_046034 phenoCommon Renal cysts and diabetes syndrome (RCAD) [MIM:137920] VAR_046042 commonName VAR_046042 VAR_046042 disease not phenotype-associated VAR_046043 commonName VAR_046043 VAR_046043 disease not phenotype-associated VAR_046044 commonName VAR_046044 VAR_046044 disease not phenotype-associated VAR_046045 commonName VAR_046045 VAR_046045 disease not phenotype-associated VAR_046046 commonName VAR_046046 VAR_046046 disease not phenotype-associated VAR_046047 commonName VAR_046047 VAR_046047 disease not phenotype-associated VAR_046050 commonName VAR_046050 VAR_046050 disease not phenotype-associated VAR_046051 commonName VAR_046051 VAR_046051 disease not phenotype-associated VAR_046052 commonName VAR_046052 VAR_046052 disease not phenotype-associated VAR_046053 commonName VAR_046053 VAR_046053 disease not phenotype-associated VAR_046054 comment A breast pleomorphic lobular carcinoma sample VAR_046054 commonName VAR_046054 VAR_046055 comment An ovarian endometrioid cancer sample VAR_046055 commonName VAR_046055 VAR_046056 commonName VAR_046056 VAR_046056 disease not phenotype-associated VAR_046057 commonName VAR_046057 VAR_046057 disease not phenotype-associated VAR_046058 commonName VAR_046058 VAR_046058 disease not phenotype-associated VAR_046059 commonName VAR_046059 VAR_046059 disease not phenotype-associated VAR_046060 commonName VAR_046060 VAR_046060 disease not phenotype-associated VAR_046061 comment A gastric adenocarcinoma sample VAR_046061 commonName VAR_046061 VAR_046062 commonName VAR_046062 VAR_046062 disease not phenotype-associated VAR_046063 commonName VAR_046063 VAR_046063 disease not phenotype-associated VAR_046064 commonName VAR_046064 VAR_046064 disease not phenotype-associated VAR_046065 commonName VAR_046065 VAR_046065 disease not phenotype-associated VAR_046066 commonName VAR_046066 VAR_046066 disease not phenotype-associated VAR_046067 commonName VAR_046067 VAR_046067 disease not phenotype-associated VAR_046068 commonName VAR_046068 VAR_046068 disease not phenotype-associated VAR_046070 commonName VAR_046070 VAR_046070 disease not phenotype-associated VAR_046071 comment A lung adenocarcinoma sample VAR_046071 commonName VAR_046071 VAR_046095 commonName VAR_046095 VAR_046095 disease not phenotype-associated VAR_046096 commonName VAR_046096 VAR_046096 disease not phenotype-associated VAR_046097 commonName VAR_046097 VAR_046097 disease not phenotype-associated VAR_046099 commonName VAR_046099 VAR_046099 disease not phenotype-associated VAR_046100 commonName VAR_046100 VAR_046100 disease not phenotype-associated VAR_046101 commonName VAR_046101 VAR_046101 disease not phenotype-associated VAR_046102 commonName VAR_046102 VAR_046102 disease not phenotype-associated VAR_046103 commonName VAR_046103 VAR_046104 comment A lung adenocarcinoma sample VAR_046104 commonName VAR_046104 VAR_046105 comment A lung neuroendocrine carcinoma sample VAR_046105 commonName VAR_046105 VAR_046106 commonName VAR_046106 VAR_046106 disease not phenotype-associated VAR_046107 commonName VAR_046107 VAR_046107 disease not phenotype-associated VAR_046108 commonName VAR_046108 VAR_046108 disease not phenotype-associated VAR_046109 commonName VAR_046109 VAR_046109 disease not phenotype-associated VAR_046110 commonName VAR_046110 VAR_046110 disease not phenotype-associated VAR_046111 commonName VAR_046111 VAR_046111 disease not phenotype-associated VAR_046112 commonName VAR_046112 VAR_046112 disease not phenotype-associated VAR_046113 commonName VAR_046113 VAR_046113 disease not phenotype-associated VAR_046114 commonName VAR_046114 VAR_046114 disease not phenotype-associated VAR_046115 commonName VAR_046115 VAR_046115 disease not phenotype-associated VAR_046116 commonName VAR_046116 VAR_046116 disease not phenotype-associated VAR_046117 commonName VAR_046117 VAR_046117 disease not phenotype-associated VAR_046118 commonName VAR_046118 VAR_046118 disease not phenotype-associated VAR_046119 commonName VAR_046119 VAR_046119 disease not phenotype-associated VAR_046120 commonName VAR_046120 VAR_046120 disease not phenotype-associated VAR_046121 commonName VAR_046121 VAR_046121 disease not phenotype-associated VAR_046122 commonName VAR_046122 VAR_046122 disease not phenotype-associated VAR_046123 commonName VAR_046123 VAR_046123 disease not phenotype-associated VAR_046124 commonName VAR_046124 VAR_046124 disease not phenotype-associated VAR_046126 commonName VAR_046126 VAR_046126 disease not phenotype-associated VAR_046130 commonName VAR_046130 VAR_046130 disease not phenotype-associated VAR_046134 commonName VAR_046134 VAR_046134 disease not phenotype-associated VAR_046135 commonName VAR_046135 VAR_046136 commonName VAR_046136 VAR_046136 disease not phenotype-associated VAR_046145 commonName VAR_046145 VAR_046145 disease phenotype-associated VAR_046145 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] VAR_046146 commonName VAR_046146 VAR_046146 disease phenotype-associated VAR_046146 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] VAR_046148 commonName VAR_046148 VAR_046148 disease phenotype-associated VAR_046148 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] VAR_046149 commonName VAR_046149 VAR_046149 disease phenotype-associated VAR_046149 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] VAR_046150 commonName VAR_046150 VAR_046150 disease not phenotype-associated VAR_046151 commonName VAR_046151 VAR_046151 disease not phenotype-associated VAR_046157 commonName VAR_046157 VAR_046157 disease not phenotype-associated VAR_046158 commonName VAR_046158 VAR_046158 disease not phenotype-associated VAR_046159 commonName VAR_046159 VAR_046159 disease not phenotype-associated VAR_046160 commonName VAR_046160 VAR_046160 disease not phenotype-associated VAR_046161 commonName VAR_046161 VAR_046161 disease not phenotype-associated VAR_046164 commonName VAR_046164 VAR_046164 disease not phenotype-associated VAR_046165 commonName VAR_046165 VAR_046165 disease not phenotype-associated VAR_046166 commonName VAR_046166 VAR_046166 disease not phenotype-associated VAR_046167 commonName VAR_046167 VAR_046167 disease not phenotype-associated VAR_046168 commonName VAR_046168 VAR_046168 disease not phenotype-associated VAR_046169 commonName VAR_046169 VAR_046169 disease not phenotype-associated VAR_046170 commonName VAR_046170 VAR_046170 disease not phenotype-associated VAR_046171 commonName VAR_046171 VAR_046171 disease not phenotype-associated VAR_046178 commonName VAR_046178 VAR_046178 disease not phenotype-associated VAR_046179 commonName VAR_046179 VAR_046179 disease not phenotype-associated VAR_046180 commonName VAR_046180 VAR_046180 disease not phenotype-associated VAR_046181 commonName VAR_046181 VAR_046181 disease not phenotype-associated VAR_046182 commonName VAR_046182 VAR_046182 disease not phenotype-associated VAR_046183 commonName VAR_046183 VAR_046183 disease not phenotype-associated VAR_046184 commonName VAR_046184 VAR_046184 disease not phenotype-associated VAR_046185 commonName VAR_046185 VAR_046185 disease not phenotype-associated VAR_046186 commonName VAR_046186 VAR_046186 disease not phenotype-associated VAR_046187 commonName VAR_046187 VAR_046187 disease not phenotype-associated VAR_046188 commonName VAR_046188 VAR_046188 disease not phenotype-associated VAR_046189 commonName VAR_046189 VAR_046189 disease not phenotype-associated VAR_046192 commonName VAR_046192 VAR_046192 disease not phenotype-associated VAR_046193 commonName VAR_046193 VAR_046193 disease not phenotype-associated VAR_046194 commonName VAR_046194 VAR_046194 disease not phenotype-associated VAR_046195 commonName VAR_046195 VAR_046195 disease not phenotype-associated VAR_046196 commonName VAR_046196 VAR_046196 disease not phenotype-associated VAR_046197 commonName VAR_046197 VAR_046197 disease not phenotype-associated VAR_046198 commonName VAR_046198 VAR_046198 disease not phenotype-associated VAR_046199 commonName VAR_046199 VAR_046199 disease not phenotype-associated VAR_046200 comment Some sporadic lung cancer sample VAR_046200 commonName VAR_046200 VAR_046205 commonName VAR_046205 VAR_046205 disease phenotype-associated VAR_046205 phenoCommon Epileptic encephalopathy early infantile type 4 (EIEE4) [MIM:612164] VAR_046206 commonName VAR_046206 VAR_046206 disease phenotype-associated VAR_046206 phenoCommon Epileptic encephalopathy early infantile type 4 (EIEE4) [MIM:612164] VAR_046207 commonName VAR_046207 VAR_046207 disease phenotype-associated VAR_046207 phenoCommon Epileptic encephalopathy early infantile type 4 (EIEE4) [MIM:612164] VAR_046208 commonName VAR_046208 VAR_046208 disease phenotype-associated VAR_046208 phenoCommon Epileptic encephalopathy early infantile type 4 (EIEE4) [MIM:612164] VAR_046209 commonName VAR_046209 VAR_046209 disease phenotype-associated VAR_046209 phenoCommon Cranioosteoarthropathy (COA) [MIM:259100] VAR_046210 commonName VAR_046210 VAR_046210 disease not phenotype-associated VAR_046211 commonName VAR_046211 VAR_046211 disease not phenotype-associated VAR_046212 commonName VAR_046212 VAR_046212 disease not phenotype-associated VAR_046214 commonName VAR_046214 VAR_046214 disease not phenotype-associated VAR_046215 commonName VAR_046215 VAR_046215 disease phenotype-associated VAR_046215 phenoCommon Mitochondrial DNA depletion syndrome type 5 (MTDPS5) [MIM:612073] VAR_046216 commonName VAR_046216 VAR_046216 disease phenotype-associated VAR_046216 phenoCommon Mitochondrial DNA depletion syndrome type 5 (MTDPS5) [MIM:612073] VAR_046217 commonName VAR_046217 VAR_046217 disease phenotype-associated VAR_046217 phenoCommon Mitochondrial DNA depletion syndrome type 8A (MTDPS8A) [MIM:612075] VAR_046219 commonName VAR_046219 VAR_046219 disease phenotype-associated VAR_046219 phenoCommon Mitochondrial DNA depletion syndrome type 8A (MTDPS8A) [MIM:612075] VAR_046220 commonName VAR_046220 VAR_046220 disease phenotype-associated VAR_046220 phenoCommon Mitochondrial DNA depletion syndrome type 8A (MTDPS8A) [MIM:612075] VAR_046221 commonName VAR_046221 VAR_046221 disease phenotype-associated VAR_046221 phenoCommon Mitochondrial DNA depletion syndrome type 8A (MTDPS8A) [MIM:612075] VAR_046222 commonName VAR_046222 VAR_046222 disease phenotype-associated VAR_046222 phenoCommon Mitochondrial DNA depletion syndrome type 8A (MTDPS8A) [MIM:612075] VAR_046223 commonName VAR_046223 VAR_046223 disease phenotype-associated VAR_046223 phenoCommon Mitochondrial DNA depletion syndrome type 8A (MTDPS8A) [MIM:612075] VAR_046224 commonName VAR_046224 VAR_046224 disease phenotype-associated VAR_046224 phenoCommon Mitochondrial DNA depletion syndrome type 8A (MTDPS8A) [MIM:612075] VAR_046225 commonName VAR_046225 VAR_046225 disease not phenotype-associated VAR_046226 commonName VAR_046226 VAR_046226 disease not phenotype-associated VAR_046227 commonName VAR_046227 VAR_046227 disease not phenotype-associated VAR_046228 commonName VAR_046228 VAR_046228 disease not phenotype-associated VAR_046229 commonName VAR_046229 VAR_046229 disease not phenotype-associated VAR_046230 commonName VAR_046230 VAR_046230 disease not phenotype-associated VAR_046231 commonName VAR_046231 VAR_046231 disease not phenotype-associated VAR_046232 commonName VAR_046232 VAR_046232 disease not phenotype-associated VAR_046233 commonName VAR_046233 VAR_046233 disease not phenotype-associated VAR_046234 commonName VAR_046234 VAR_046234 disease not phenotype-associated VAR_046235 commonName VAR_046235 VAR_046235 disease not phenotype-associated VAR_046236 commonName VAR_046236 VAR_046236 disease not phenotype-associated VAR_046237 commonName VAR_046237 VAR_046237 disease not phenotype-associated VAR_046238 commonName VAR_046238 VAR_046238 disease not phenotype-associated VAR_046239 commonName VAR_046239 VAR_046240 commonName VAR_046240 VAR_046240 disease not phenotype-associated VAR_046241 commonName VAR_046241 VAR_046241 disease not phenotype-associated VAR_046242 commonName VAR_046242 VAR_046242 disease not phenotype-associated VAR_046243 commonName VAR_046243 VAR_046243 disease not phenotype-associated VAR_046244 commonName VAR_046244 VAR_046244 disease not phenotype-associated VAR_046245 commonName VAR_046245 VAR_046245 disease not phenotype-associated VAR_046246 commonName VAR_046246 VAR_046246 disease not phenotype-associated VAR_046247 commonName VAR_046247 VAR_046247 disease not phenotype-associated VAR_046248 commonName VAR_046248 VAR_046248 disease not phenotype-associated VAR_046249 commonName VAR_046249 VAR_046249 disease phenotype-associated VAR_046249 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_046250 commonName VAR_046250 VAR_046250 disease phenotype-associated VAR_046250 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_046251 commonName VAR_046251 VAR_046251 disease phenotype-associated VAR_046251 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_046252 commonName VAR_046252 VAR_046252 disease phenotype-associated VAR_046252 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_046253 commonName VAR_046253 VAR_046253 disease phenotype-associated VAR_046253 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_046254 commonName VAR_046254 VAR_046254 disease phenotype-associated VAR_046254 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_046255 commonName VAR_046255 VAR_046255 disease phenotype-associated VAR_046255 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_046256 commonName VAR_046256 VAR_046256 disease phenotype-associated VAR_046256 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_046257 commonName VAR_046257 VAR_046257 disease phenotype-associated VAR_046257 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_046258 commonName VAR_046258 VAR_046258 disease phenotype-associated VAR_046258 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_046259 commonName VAR_046259 VAR_046259 disease phenotype-associated VAR_046259 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_046260 commonName VAR_046260 VAR_046260 disease phenotype-associated VAR_046260 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_046261 commonName VAR_046261 VAR_046261 disease phenotype-associated VAR_046261 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_046262 commonName VAR_046262 VAR_046262 disease phenotype-associated VAR_046262 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_046263 commonName VAR_046263 VAR_046263 disease phenotype-associated VAR_046263 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_046264 commonName VAR_046264 VAR_046264 disease phenotype-associated VAR_046264 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_046265 commonName VAR_046265 VAR_046265 disease phenotype-associated VAR_046265 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_046266 commonName VAR_046266 VAR_046266 disease phenotype-associated VAR_046266 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_046268 commonName VAR_046268 VAR_046268 disease phenotype-associated VAR_046268 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_046269 commonName VAR_046269 VAR_046269 disease phenotype-associated VAR_046269 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_046270 commonName VAR_046270 VAR_046270 disease phenotype-associated VAR_046270 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_046271 commonName VAR_046271 VAR_046271 disease phenotype-associated VAR_046271 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_046272 commonName VAR_046272 VAR_046272 disease phenotype-associated VAR_046272 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_046273 commonName VAR_046273 VAR_046273 disease phenotype-associated VAR_046273 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_046274 commonName VAR_046274 VAR_046274 disease phenotype-associated VAR_046274 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_046275 commonName VAR_046275 VAR_046275 disease phenotype-associated VAR_046275 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_046276 commonName VAR_046276 VAR_046276 disease phenotype-associated VAR_046276 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_046277 commonName VAR_046277 VAR_046277 disease phenotype-associated VAR_046277 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_046278 commonName VAR_046278 VAR_046278 disease phenotype-associated VAR_046278 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_046279 commonName VAR_046279 VAR_046279 disease not phenotype-associated VAR_046280 commonName VAR_046280 VAR_046280 disease not phenotype-associated VAR_046281 commonName VAR_046281 VAR_046281 disease not phenotype-associated VAR_046282 commonName VAR_046282 VAR_046282 disease not phenotype-associated VAR_046283 commonName VAR_046283 VAR_046283 disease not phenotype-associated VAR_046284 commonName VAR_046284 VAR_046284 disease not phenotype-associated VAR_046285 commonName VAR_046285 VAR_046285 disease not phenotype-associated VAR_046286 commonName VAR_046286 VAR_046286 disease not phenotype-associated VAR_046287 commonName VAR_046287 VAR_046287 disease not phenotype-associated VAR_046288 commonName VAR_046288 VAR_046288 disease not phenotype-associated VAR_046289 commonName VAR_046289 VAR_046289 disease not phenotype-associated VAR_046300 commonName VAR_046300 VAR_046300 disease not phenotype-associated VAR_046301 commonName VAR_046301 VAR_046301 disease not phenotype-associated VAR_046302 commonName VAR_046302 VAR_046302 disease not phenotype-associated VAR_046303 commonName VAR_046303 VAR_046303 disease not phenotype-associated VAR_046304 commonName VAR_046304 VAR_046304 disease not phenotype-associated VAR_046305 commonName VAR_046305 VAR_046305 disease not phenotype-associated VAR_046306 commonName VAR_046306 VAR_046306 disease not phenotype-associated VAR_046307 commonName VAR_046307 VAR_046307 disease not phenotype-associated VAR_046308 commonName VAR_046308 VAR_046308 disease not phenotype-associated VAR_046309 commonName VAR_046309 VAR_046309 disease not phenotype-associated VAR_046310 commonName VAR_046310 VAR_046310 disease not phenotype-associated VAR_046311 commonName VAR_046311 VAR_046311 disease not phenotype-associated VAR_046312 commonName VAR_046312 VAR_046312 disease not phenotype-associated VAR_046313 commonName VAR_046313 VAR_046313 disease not phenotype-associated VAR_046314 commonName VAR_046314 VAR_046314 disease not phenotype-associated VAR_046315 commonName VAR_046315 VAR_046315 disease not phenotype-associated VAR_046316 commonName VAR_046316 VAR_046316 disease not phenotype-associated VAR_046317 commonName VAR_046317 VAR_046317 disease not phenotype-associated VAR_046318 commonName VAR_046318 VAR_046318 disease not phenotype-associated VAR_046319 commonName VAR_046319 VAR_046319 disease not phenotype-associated VAR_046320 commonName VAR_046320 VAR_046320 disease not phenotype-associated VAR_046321 commonName VAR_046321 VAR_046321 disease not phenotype-associated VAR_046322 commonName VAR_046322 VAR_046322 disease not phenotype-associated VAR_046323 commonName VAR_046323 VAR_046323 disease not phenotype-associated VAR_046324 commonName VAR_046324 VAR_046324 disease not phenotype-associated VAR_046325 commonName VAR_046325 VAR_046325 disease not phenotype-associated VAR_046326 commonName VAR_046326 VAR_046326 disease not phenotype-associated VAR_046327 commonName VAR_046327 VAR_046327 disease not phenotype-associated VAR_046328 commonName VAR_046328 VAR_046328 disease not phenotype-associated VAR_046329 commonName VAR_046329 VAR_046329 disease not phenotype-associated VAR_046330 commonName VAR_046330 VAR_046330 disease not phenotype-associated VAR_046331 commonName VAR_046331 VAR_046331 disease not phenotype-associated VAR_046334 commonName VAR_046334 VAR_046334 disease not phenotype-associated VAR_046335 commonName VAR_046335 VAR_046335 disease not phenotype-associated VAR_046336 commonName VAR_046336 VAR_046336 disease not phenotype-associated VAR_046337 commonName VAR_046337 VAR_046337 disease not phenotype-associated VAR_046338 commonName VAR_046338 VAR_046338 disease not phenotype-associated VAR_046339 commonName VAR_046339 VAR_046339 disease not phenotype-associated VAR_046340 commonName VAR_046340 VAR_046340 disease not phenotype-associated VAR_046341 commonName VAR_046341 VAR_046341 disease not phenotype-associated VAR_046342 commonName VAR_046342 VAR_046342 disease not phenotype-associated VAR_046343 commonName VAR_046343 VAR_046343 disease not phenotype-associated VAR_046344 commonName VAR_046344 VAR_046344 disease not phenotype-associated VAR_046346 commonName VAR_046346 VAR_046346 disease not phenotype-associated VAR_046347 commonName VAR_046347 VAR_046347 disease not phenotype-associated VAR_046348 commonName VAR_046348 VAR_046348 disease not phenotype-associated VAR_046349 commonName VAR_046349 VAR_046349 disease not phenotype-associated VAR_046350 commonName VAR_046350 VAR_046350 disease not phenotype-associated VAR_046351 commonName VAR_046351 VAR_046351 disease not phenotype-associated VAR_046352 commonName VAR_046352 VAR_046352 disease not phenotype-associated VAR_046353 commonName VAR_046353 VAR_046353 disease not phenotype-associated VAR_046354 commonName VAR_046354 VAR_046354 disease not phenotype-associated VAR_046355 commonName VAR_046355 VAR_046355 disease not phenotype-associated VAR_046356 commonName VAR_046356 VAR_046356 disease not phenotype-associated VAR_046357 commonName VAR_046357 VAR_046357 disease not phenotype-associated VAR_046358 commonName VAR_046358 VAR_046358 disease not phenotype-associated VAR_046359 commonName VAR_046359 VAR_046359 disease not phenotype-associated VAR_046360 commonName VAR_046360 VAR_046360 disease not phenotype-associated VAR_046361 commonName VAR_046361 VAR_046361 disease not phenotype-associated VAR_046362 commonName VAR_046362 VAR_046362 disease not phenotype-associated VAR_046363 commonName VAR_046363 VAR_046363 disease not phenotype-associated VAR_046364 commonName VAR_046364 VAR_046364 disease not phenotype-associated VAR_046365 commonName VAR_046365 VAR_046365 disease not phenotype-associated VAR_046366 commonName VAR_046366 VAR_046366 disease not phenotype-associated VAR_046367 commonName VAR_046367 VAR_046367 disease not phenotype-associated VAR_046368 commonName VAR_046368 VAR_046368 disease not phenotype-associated VAR_046369 commonName VAR_046369 VAR_046369 disease not phenotype-associated VAR_046370 commonName VAR_046370 VAR_046370 disease not phenotype-associated VAR_046371 commonName VAR_046371 VAR_046371 disease not phenotype-associated VAR_046372 commonName VAR_046372 VAR_046372 disease not phenotype-associated VAR_046373 commonName VAR_046373 VAR_046373 disease not phenotype-associated VAR_046376 commonName VAR_046376 VAR_046376 disease not phenotype-associated VAR_046377 commonName VAR_046377 VAR_046377 disease not phenotype-associated VAR_046378 commonName VAR_046378 VAR_046378 disease not phenotype-associated VAR_046380 commonName VAR_046380 VAR_046380 disease not phenotype-associated VAR_046381 commonName VAR_046381 VAR_046381 disease not phenotype-associated VAR_046383 commonName VAR_046383 VAR_046383 disease phenotype-associated VAR_046383 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] VAR_046384 commonName VAR_046384 VAR_046384 disease phenotype-associated VAR_046384 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] VAR_046387 commonName VAR_046387 VAR_046387 disease phenotype-associated VAR_046387 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] VAR_046388 commonName VAR_046388 VAR_046388 disease phenotype-associated VAR_046388 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] VAR_046389 commonName VAR_046389 VAR_046389 disease phenotype-associated VAR_046389 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] VAR_046390 commonName VAR_046390 VAR_046390 disease phenotype-associated VAR_046390 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] VAR_046391 commonName VAR_046391 VAR_046391 disease phenotype-associated VAR_046391 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] VAR_046392 commonName VAR_046392 VAR_046392 disease phenotype-associated VAR_046392 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] VAR_046393 commonName VAR_046393 VAR_046393 disease phenotype-associated VAR_046393 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] VAR_046394 commonName VAR_046394 VAR_046394 disease phenotype-associated VAR_046394 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] VAR_046395 commonName VAR_046395 VAR_046395 disease phenotype-associated VAR_046395 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] VAR_046396 commonName VAR_046396 VAR_046396 disease phenotype-associated VAR_046396 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] VAR_046397 commonName VAR_046397 VAR_046397 disease phenotype-associated VAR_046397 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] VAR_046398 commonName VAR_046398 VAR_046398 disease phenotype-associated VAR_046398 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] VAR_046399 commonName VAR_046399 VAR_046399 disease phenotype-associated VAR_046399 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] VAR_046401 commonName VAR_046401 VAR_046401 disease phenotype-associated VAR_046401 phenoCommon Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780] VAR_046402 commonName VAR_046402 VAR_046402 disease not phenotype-associated VAR_046403 commonName VAR_046403 VAR_046403 disease not phenotype-associated VAR_046404 commonName VAR_046404 VAR_046404 disease phenotype-associated VAR_046404 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] VAR_046405 commonName VAR_046405 VAR_046405 disease phenotype-associated VAR_046405 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] VAR_046406 commonName VAR_046406 VAR_046406 disease not phenotype-associated VAR_046407 commonName VAR_046407 VAR_046407 disease phenotype-associated VAR_046407 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067] VAR_046408 commonName VAR_046408 VAR_046408 disease not phenotype-associated VAR_046409 commonName VAR_046409 VAR_046409 disease not phenotype-associated VAR_046410 commonName VAR_046410 VAR_046410 disease phenotype-associated VAR_046410 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067] VAR_046411 commonName VAR_046411 VAR_046411 disease phenotype-associated VAR_046411 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067] VAR_046412 commonName VAR_046412 VAR_046412 disease not phenotype-associated VAR_046413 commonName VAR_046413 VAR_046413 disease not phenotype-associated VAR_046414 commonName VAR_046414 VAR_046414 disease not phenotype-associated VAR_046415 commonName VAR_046415 VAR_046415 disease not phenotype-associated VAR_046416 commonName VAR_046416 VAR_046416 disease not phenotype-associated VAR_046417 commonName VAR_046417 VAR_046417 disease not phenotype-associated VAR_046418 commonName VAR_046418 VAR_046418 disease phenotype-associated VAR_046418 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] VAR_046419 commonName VAR_046419 VAR_046419 disease phenotype-associated VAR_046419 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067] VAR_046420 commonName VAR_046420 VAR_046420 disease not phenotype-associated VAR_046421 commonName VAR_046421 VAR_046421 disease not phenotype-associated VAR_046422 commonName VAR_046422 VAR_046422 disease not phenotype-associated VAR_046423 commonName VAR_046423 VAR_046423 disease phenotype-associated VAR_046423 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067] VAR_046424 commonName VAR_046424 VAR_046424 disease phenotype-associated VAR_046424 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067] VAR_046425 commonName VAR_046425 VAR_046425 disease phenotype-associated VAR_046425 phenoCommon Deafness autosomal recessive type 12 (DFNB12) [MIM:601386] VAR_046426 commonName VAR_046426 VAR_046426 disease not phenotype-associated VAR_046427 commonName VAR_046427 VAR_046427 disease not phenotype-associated VAR_046428 commonName VAR_046428 VAR_046428 disease not phenotype-associated VAR_046429 commonName VAR_046429 VAR_046429 disease phenotype-associated VAR_046429 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067] VAR_046430 commonName VAR_046430 VAR_046430 disease not phenotype-associated VAR_046431 commonName VAR_046431 VAR_046431 disease not phenotype-associated VAR_046432 commonName VAR_046432 VAR_046432 disease phenotype-associated VAR_046432 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067] VAR_046433 commonName VAR_046433 VAR_046433 disease not phenotype-associated VAR_046434 commonName VAR_046434 VAR_046434 disease phenotype-associated VAR_046434 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067] VAR_046435 commonName VAR_046435 VAR_046435 disease not phenotype-associated VAR_046436 commonName VAR_046436 VAR_046437 commonName VAR_046437 VAR_046437 disease phenotype-associated VAR_046437 phenoCommon Usher syndrome type 1D (USH1D) [MIM:601067] VAR_046438 commonName VAR_046438 VAR_046438 disease not phenotype-associated VAR_046442 commonName VAR_046442 VAR_046442 disease not phenotype-associated VAR_046443 commonName VAR_046443 VAR_046443 disease not phenotype-associated VAR_046444 commonName VAR_046444 VAR_046444 disease not phenotype-associated VAR_046445 commonName VAR_046445 VAR_046445 disease not phenotype-associated VAR_046446 commonName VAR_046446 VAR_046446 disease not phenotype-associated VAR_046447 commonName VAR_046447 VAR_046447 disease not phenotype-associated VAR_046448 commonName VAR_046448 VAR_046448 disease not phenotype-associated VAR_046450 commonName VAR_046450 VAR_046450 disease not phenotype-associated VAR_046451 comment Gastric-carcinoma cell line VAR_046451 commonName VAR_046451 VAR_046452 comment Gastric-carcinoma cell line VAR_046452 commonName VAR_046452 VAR_046453 commonName VAR_046453 VAR_046453 disease not phenotype-associated VAR_046454 comment Gastric-carcinoma cell line VAR_046454 commonName VAR_046454 VAR_046464 commonName VAR_046464 VAR_046464 disease not phenotype-associated VAR_046465 commonName VAR_046465 VAR_046465 disease not phenotype-associated VAR_046466 commonName VAR_046466 VAR_046466 disease not phenotype-associated VAR_046467 commonName VAR_046467 VAR_046467 disease phenotype-associated VAR_046467 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_046468 commonName VAR_046468 VAR_046468 disease phenotype-associated VAR_046468 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_046469 commonName VAR_046469 VAR_046469 disease phenotype-associated VAR_046469 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_046470 commonName VAR_046470 VAR_046470 disease phenotype-associated VAR_046470 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_046471 commonName VAR_046471 VAR_046471 disease phenotype-associated VAR_046471 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_046472 commonName VAR_046472 VAR_046472 disease phenotype-associated VAR_046472 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_046473 commonName VAR_046473 VAR_046473 disease phenotype-associated VAR_046473 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_046475 commonName VAR_046475 VAR_046475 disease phenotype-associated VAR_046475 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_046476 commonName VAR_046476 VAR_046476 disease phenotype-associated VAR_046476 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_046477 commonName VAR_046477 VAR_046477 disease phenotype-associated VAR_046477 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_046478 commonName VAR_046478 VAR_046478 disease phenotype-associated VAR_046478 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_046479 commonName VAR_046479 VAR_046479 disease phenotype-associated VAR_046479 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_046480 commonName VAR_046480 VAR_046480 disease not phenotype-associated VAR_046481 commonName VAR_046481 VAR_046481 disease not phenotype-associated VAR_046482 commonName VAR_046482 VAR_046482 disease not phenotype-associated VAR_046483 commonName VAR_046483 VAR_046483 disease not phenotype-associated VAR_046484 commonName VAR_046484 VAR_046484 disease phenotype-associated VAR_046484 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] VAR_046485 commonName VAR_046485 VAR_046485 disease phenotype-associated VAR_046485 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] VAR_046486 commonName VAR_046486 VAR_046486 disease not phenotype-associated VAR_046488 commonName VAR_046488 VAR_046488 disease not phenotype-associated VAR_046489 commonName VAR_046489 VAR_046489 disease not phenotype-associated VAR_046490 commonName VAR_046490 VAR_046490 disease phenotype-associated VAR_046490 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] VAR_046491 commonName VAR_046491 VAR_046491 disease phenotype-associated VAR_046491 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] VAR_046492 commonName VAR_046492 VAR_046492 disease phenotype-associated VAR_046492 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] VAR_046493 commonName VAR_046493 VAR_046493 disease phenotype-associated VAR_046493 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] VAR_046494 commonName VAR_046494 VAR_046494 disease phenotype-associated VAR_046494 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] VAR_046495 commonName VAR_046495 VAR_046495 disease phenotype-associated VAR_046495 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] VAR_046496 commonName VAR_046496 VAR_046496 disease phenotype-associated VAR_046496 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] VAR_046497 commonName VAR_046497 VAR_046497 disease phenotype-associated VAR_046497 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] VAR_046498 commonName VAR_046498 VAR_046498 disease phenotype-associated VAR_046498 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] VAR_046502 commonName VAR_046502 VAR_046502 disease phenotype-associated VAR_046502 phenoCommon Atrial septal defect type 5 (ASD5) [MIM:612794] VAR_046503 commonName VAR_046503 VAR_046503 disease phenotype-associated VAR_046503 phenoCommon Familial hypertrophic cardiomyopathy type 11 (CMH11) [MIM:612098] VAR_046504 commonName VAR_046504 VAR_046504 disease phenotype-associated VAR_046504 phenoCommon Familial hypertrophic cardiomyopathy type 11 (CMH11) [MIM:612098] VAR_046505 commonName VAR_046505 VAR_046505 disease not phenotype-associated VAR_046506 commonName VAR_046506 VAR_046506 disease not phenotype-associated VAR_046507 commonName VAR_046507 VAR_046507 disease phenotype-associated VAR_046507 phenoCommon Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] VAR_046508 commonName VAR_046508 VAR_046508 disease phenotype-associated VAR_046508 phenoCommon Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] VAR_046509 commonName VAR_046509 VAR_046509 disease phenotype-associated VAR_046509 phenoCommon Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] VAR_046510 commonName VAR_046510 VAR_046510 disease phenotype-associated VAR_046510 phenoCommon Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] VAR_046511 commonName VAR_046511 VAR_046511 disease phenotype-associated VAR_046511 phenoCommon Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] VAR_046512 commonName VAR_046512 VAR_046512 disease phenotype-associated VAR_046512 phenoCommon Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] VAR_046518 comment A lung carcinoma sample VAR_046518 commonName VAR_046518 VAR_046519 comment A lung carcinoma sample VAR_046519 commonName VAR_046519 VAR_046520 comment A lung carcinoma sample VAR_046520 commonName VAR_046520 VAR_046521 comment A lung carcinoma sample VAR_046521 commonName VAR_046521 VAR_046522 comment A lung carcinoma sample VAR_046522 commonName VAR_046522 VAR_046523 comment A lung carcinoma sample VAR_046523 commonName VAR_046523 VAR_046524 comment A lung carcinoma sample VAR_046524 commonName VAR_046524 VAR_046525 commonName VAR_046525 VAR_046525 disease not phenotype-associated VAR_046526 commonName VAR_046526 VAR_046526 disease not phenotype-associated VAR_046527 commonName VAR_046527 VAR_046527 disease not phenotype-associated VAR_046528 commonName VAR_046528 VAR_046528 disease not phenotype-associated VAR_046529 commonName VAR_046529 VAR_046529 disease not phenotype-associated VAR_046530 commonName VAR_046530 VAR_046530 disease not phenotype-associated VAR_046531 commonName VAR_046531 VAR_046531 disease not phenotype-associated VAR_046532 commonName VAR_046532 VAR_046532 disease not phenotype-associated VAR_046533 commonName VAR_046533 VAR_046533 disease not phenotype-associated VAR_046536 commonName VAR_046536 VAR_046536 disease not phenotype-associated VAR_046537 commonName VAR_046537 VAR_046537 disease not phenotype-associated VAR_046538 commonName VAR_046538 VAR_046538 disease not phenotype-associated VAR_046539 commonName VAR_046539 VAR_046539 disease not phenotype-associated VAR_046540 commonName VAR_046540 VAR_046540 disease not phenotype-associated VAR_046541 commonName VAR_046541 VAR_046541 disease not phenotype-associated VAR_046542 commonName VAR_046542 VAR_046542 disease not phenotype-associated VAR_046543 commonName VAR_046543 VAR_046543 disease not phenotype-associated VAR_046544 commonName VAR_046544 VAR_046544 disease not phenotype-associated VAR_046545 commonName VAR_046545 VAR_046545 disease not phenotype-associated VAR_046546 commonName VAR_046546 VAR_046546 disease not phenotype-associated VAR_046547 commonName VAR_046547 VAR_046547 disease not phenotype-associated VAR_046548 commonName VAR_046548 VAR_046548 disease not phenotype-associated VAR_046549 commonName VAR_046549 VAR_046549 disease not phenotype-associated VAR_046550 commonName VAR_046550 VAR_046550 disease not phenotype-associated VAR_046551 commonName VAR_046551 VAR_046551 disease not phenotype-associated VAR_046552 commonName VAR_046552 VAR_046552 disease not phenotype-associated VAR_046553 commonName VAR_046553 VAR_046553 disease not phenotype-associated VAR_046554 commonName VAR_046554 VAR_046554 disease not phenotype-associated VAR_046555 commonName VAR_046555 VAR_046555 disease not phenotype-associated VAR_046556 commonName VAR_046556 VAR_046556 disease not phenotype-associated VAR_046557 commonName VAR_046557 VAR_046557 disease not phenotype-associated VAR_046558 commonName VAR_046558 VAR_046558 disease not phenotype-associated VAR_046559 commonName VAR_046559 VAR_046559 disease not phenotype-associated VAR_046560 commonName VAR_046560 VAR_046560 disease not phenotype-associated VAR_046561 commonName VAR_046561 VAR_046561 disease not phenotype-associated VAR_046563 commonName VAR_046563 VAR_046563 disease not phenotype-associated VAR_046564 commonName VAR_046564 VAR_046564 disease not phenotype-associated VAR_046565 commonName VAR_046565 VAR_046565 disease not phenotype-associated VAR_046566 commonName VAR_046566 VAR_046566 disease not phenotype-associated VAR_046567 commonName VAR_046567 VAR_046567 disease not phenotype-associated VAR_046568 commonName VAR_046568 VAR_046568 disease phenotype-associated VAR_046568 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909] VAR_046569 commonName VAR_046569 VAR_046569 disease not phenotype-associated VAR_046570 commonName VAR_046570 VAR_046570 disease not phenotype-associated VAR_046571 commonName VAR_046571 VAR_046571 disease not phenotype-associated VAR_046572 commonName VAR_046572 VAR_046572 disease not phenotype-associated VAR_046573 commonName VAR_046573 VAR_046573 disease not phenotype-associated VAR_046574 commonName VAR_046574 VAR_046574 disease phenotype-associated VAR_046574 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909] VAR_046575 commonName VAR_046575 VAR_046575 disease phenotype-associated VAR_046575 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909] VAR_046576 commonName VAR_046576 VAR_046576 disease not phenotype-associated VAR_046577 commonName VAR_046577 VAR_046577 disease phenotype-associated VAR_046577 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909] VAR_046578 commonName VAR_046578 VAR_046578 disease phenotype-associated VAR_046578 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909] VAR_046579 commonName VAR_046579 VAR_046579 disease not phenotype-associated VAR_046580 commonName VAR_046580 VAR_046580 disease not phenotype-associated VAR_046581 commonName VAR_046581 VAR_046581 disease phenotype-associated VAR_046581 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909] VAR_046582 commonName VAR_046582 VAR_046582 disease not phenotype-associated VAR_046583 commonName VAR_046583 VAR_046583 disease not phenotype-associated VAR_046584 commonName VAR_046584 VAR_046584 disease phenotype-associated VAR_046584 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909] VAR_046585 commonName VAR_046585 VAR_046585 disease phenotype-associated VAR_046585 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909] VAR_046586 commonName VAR_046586 VAR_046586 disease not phenotype-associated VAR_046587 commonName VAR_046587 VAR_046587 disease phenotype-associated VAR_046587 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909] VAR_046588 commonName VAR_046588 VAR_046588 disease not phenotype-associated VAR_046589 commonName VAR_046589 VAR_046589 disease phenotype-associated VAR_046589 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909] VAR_046590 commonName VAR_046590 VAR_046590 disease not phenotype-associated VAR_046591 commonName VAR_046591 VAR_046591 disease not phenotype-associated VAR_046592 commonName VAR_046592 VAR_046592 disease not phenotype-associated VAR_046593 commonName VAR_046593 VAR_046593 disease phenotype-associated VAR_046593 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909] VAR_046594 commonName VAR_046594 VAR_046594 disease not phenotype-associated VAR_046595 commonName VAR_046595 VAR_046595 disease not phenotype-associated VAR_046596 commonName VAR_046596 VAR_046596 disease phenotype-associated VAR_046596 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909] VAR_046597 commonName VAR_046597 VAR_046597 disease not phenotype-associated VAR_046598 commonName VAR_046598 VAR_046598 disease not phenotype-associated VAR_046599 commonName VAR_046599 VAR_046599 disease phenotype-associated VAR_046599 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909] VAR_046600 commonName VAR_046600 VAR_046600 disease not phenotype-associated VAR_046601 commonName VAR_046601 VAR_046602 commonName VAR_046602 VAR_046602 disease not phenotype-associated VAR_046603 commonName VAR_046603 VAR_046604 commonName VAR_046604 VAR_046604 disease not phenotype-associated VAR_046605 commonName VAR_046605 VAR_046605 disease phenotype-associated VAR_046605 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909] VAR_046606 commonName VAR_046606 VAR_046607 commonName VAR_046607 VAR_046607 disease phenotype-associated VAR_046607 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909] VAR_046608 commonName VAR_046608 VAR_046609 commonName VAR_046609 VAR_046609 disease not phenotype-associated VAR_046611 commonName VAR_046611 VAR_046611 disease not phenotype-associated VAR_046612 commonName VAR_046612 VAR_046613 commonName VAR_046613 VAR_046613 disease not phenotype-associated VAR_046614 commonName VAR_046614 VAR_046614 disease not phenotype-associated VAR_046615 commonName VAR_046615 VAR_046615 disease not phenotype-associated VAR_046616 commonName VAR_046616 VAR_046616 disease not phenotype-associated VAR_046617 commonName VAR_046617 VAR_046617 disease not phenotype-associated VAR_046618 commonName VAR_046618 VAR_046618 disease not phenotype-associated VAR_046619 commonName VAR_046619 VAR_046619 disease not phenotype-associated VAR_046620 commonName VAR_046620 VAR_046620 disease not phenotype-associated VAR_046621 commonName VAR_046621 VAR_046621 disease not phenotype-associated VAR_046624 commonName VAR_046624 VAR_046624 disease not phenotype-associated VAR_046625 commonName VAR_046625 VAR_046625 disease not phenotype-associated VAR_046626 commonName VAR_046626 VAR_046626 disease not phenotype-associated VAR_046627 commonName VAR_046627 VAR_046627 disease not phenotype-associated VAR_046628 commonName VAR_046628 VAR_046628 disease not phenotype-associated VAR_046631 commonName VAR_046631 VAR_046631 disease not phenotype-associated VAR_046632 commonName VAR_046632 VAR_046632 disease not phenotype-associated VAR_046633 commonName VAR_046633 VAR_046633 disease not phenotype-associated VAR_046634 commonName VAR_046634 VAR_046634 disease not phenotype-associated VAR_046635 commonName VAR_046635 VAR_046635 disease not phenotype-associated VAR_046636 commonName VAR_046636 VAR_046636 disease not phenotype-associated VAR_046637 commonName VAR_046637 VAR_046637 disease not phenotype-associated VAR_046638 commonName VAR_046638 VAR_046638 disease not phenotype-associated VAR_046639 commonName VAR_046639 VAR_046639 disease not phenotype-associated VAR_046642 commonName VAR_046642 VAR_046642 disease not phenotype-associated VAR_046643 commonName VAR_046643 VAR_046643 disease not phenotype-associated VAR_046644 commonName VAR_046644 VAR_046644 disease not phenotype-associated VAR_046645 commonName VAR_046645 VAR_046645 disease not phenotype-associated VAR_046646 commonName VAR_046646 VAR_046646 disease not phenotype-associated VAR_046647 commonName VAR_046647 VAR_046647 disease not phenotype-associated VAR_046648 commonName VAR_046648 VAR_046648 disease not phenotype-associated VAR_046651 commonName VAR_046651 VAR_046651 disease not phenotype-associated VAR_046652 commonName VAR_046652 VAR_046652 disease not phenotype-associated VAR_046653 commonName VAR_046653 VAR_046653 disease not phenotype-associated VAR_046654 commonName VAR_046654 VAR_046654 disease not phenotype-associated VAR_046661 commonName VAR_046661 VAR_046661 disease not phenotype-associated VAR_046662 commonName VAR_046662 VAR_046662 disease not phenotype-associated VAR_046663 commonName VAR_046663 VAR_046663 disease not phenotype-associated VAR_046664 commonName VAR_046664 VAR_046664 disease not phenotype-associated VAR_046665 commonName VAR_046665 VAR_046665 disease not phenotype-associated VAR_046667 commonName VAR_046667 VAR_046667 disease not phenotype-associated VAR_046668 commonName VAR_046668 VAR_046668 disease not phenotype-associated VAR_046669 commonName VAR_046669 VAR_046669 disease not phenotype-associated VAR_046672 commonName VAR_046672 VAR_046672 disease not phenotype-associated VAR_046673 commonName VAR_046673 VAR_046673 disease not phenotype-associated VAR_046674 commonName VAR_046674 VAR_046674 disease not phenotype-associated VAR_046675 commonName VAR_046675 VAR_046675 disease not phenotype-associated VAR_046676 commonName VAR_046676 VAR_046676 disease not phenotype-associated VAR_046677 commonName VAR_046677 VAR_046677 disease not phenotype-associated VAR_046678 commonName VAR_046678 VAR_046678 disease not phenotype-associated VAR_046679 commonName VAR_046679 VAR_046679 disease not phenotype-associated VAR_046680 commonName VAR_046680 VAR_046680 disease not phenotype-associated VAR_046681 commonName VAR_046681 VAR_046681 disease not phenotype-associated VAR_046682 commonName VAR_046682 VAR_046682 disease not phenotype-associated VAR_046683 commonName VAR_046683 VAR_046683 disease not phenotype-associated VAR_046684 commonName VAR_046684 VAR_046684 disease not phenotype-associated VAR_046685 commonName VAR_046685 VAR_046685 disease not phenotype-associated VAR_046686 commonName VAR_046686 VAR_046686 disease not phenotype-associated VAR_046687 commonName VAR_046687 VAR_046687 disease not phenotype-associated VAR_046688 commonName VAR_046688 VAR_046688 disease not phenotype-associated VAR_046689 commonName VAR_046689 VAR_046689 disease not phenotype-associated VAR_046690 commonName VAR_046690 VAR_046690 disease not phenotype-associated VAR_046691 commonName VAR_046691 VAR_046691 disease not phenotype-associated VAR_046692 commonName VAR_046692 VAR_046692 disease not phenotype-associated VAR_046693 commonName VAR_046693 VAR_046693 disease not phenotype-associated VAR_046694 commonName VAR_046694 VAR_046694 disease not phenotype-associated VAR_046695 commonName VAR_046695 VAR_046695 disease not phenotype-associated VAR_046696 commonName VAR_046696 VAR_046696 disease not phenotype-associated VAR_046697 commonName VAR_046697 VAR_046697 disease not phenotype-associated VAR_046698 commonName VAR_046698 VAR_046698 disease not phenotype-associated VAR_046699 commonName VAR_046699 VAR_046699 disease not phenotype-associated VAR_046700 commonName VAR_046700 VAR_046700 disease not phenotype-associated VAR_046701 commonName VAR_046701 VAR_046701 disease not phenotype-associated VAR_046702 commonName VAR_046702 VAR_046702 disease not phenotype-associated VAR_046703 commonName VAR_046703 VAR_046703 disease not phenotype-associated VAR_046704 commonName VAR_046704 VAR_046704 disease not phenotype-associated VAR_046705 commonName VAR_046705 VAR_046705 disease not phenotype-associated VAR_046706 commonName VAR_046706 VAR_046706 disease not phenotype-associated VAR_046707 commonName VAR_046707 VAR_046707 disease not phenotype-associated VAR_046708 commonName VAR_046708 VAR_046708 disease not phenotype-associated VAR_046709 commonName VAR_046709 VAR_046709 disease not phenotype-associated VAR_046710 commonName VAR_046710 VAR_046710 disease not phenotype-associated VAR_046711 commonName VAR_046711 VAR_046711 disease not phenotype-associated VAR_046712 commonName VAR_046712 VAR_046712 disease not phenotype-associated VAR_046717 commonName VAR_046717 VAR_046717 disease not phenotype-associated VAR_046718 commonName VAR_046718 VAR_046718 disease not phenotype-associated VAR_046719 commonName VAR_046719 VAR_046719 disease not phenotype-associated VAR_046720 commonName VAR_046720 VAR_046720 disease not phenotype-associated VAR_046721 commonName VAR_046721 VAR_046721 disease not phenotype-associated VAR_046722 commonName VAR_046722 VAR_046722 disease not phenotype-associated VAR_046723 commonName VAR_046723 VAR_046723 disease not phenotype-associated VAR_046724 commonName VAR_046724 VAR_046724 disease not phenotype-associated VAR_046725 commonName VAR_046725 VAR_046725 disease not phenotype-associated VAR_046726 commonName VAR_046726 VAR_046726 disease not phenotype-associated VAR_046727 commonName VAR_046727 VAR_046727 disease not phenotype-associated VAR_046728 commonName VAR_046728 VAR_046728 disease not phenotype-associated VAR_046729 commonName VAR_046729 VAR_046729 disease not phenotype-associated VAR_046730 commonName VAR_046730 VAR_046730 disease not phenotype-associated VAR_046731 commonName VAR_046731 VAR_046731 disease not phenotype-associated VAR_046732 commonName VAR_046732 VAR_046732 disease not phenotype-associated VAR_046733 commonName VAR_046733 VAR_046733 disease not phenotype-associated VAR_046734 commonName VAR_046734 VAR_046734 disease not phenotype-associated VAR_046735 commonName VAR_046735 VAR_046735 disease phenotype-associated VAR_046735 phenoCommon Retinitis pigmentosa type 18 (RP18) [MIM:601414] VAR_046736 commonName VAR_046736 VAR_046736 disease not phenotype-associated VAR_046737 commonName VAR_046737 VAR_046737 disease not phenotype-associated VAR_046738 commonName VAR_046738 VAR_046738 disease not phenotype-associated VAR_046739 commonName VAR_046739 VAR_046739 disease not phenotype-associated VAR_046740 commonName VAR_046740 VAR_046741 commonName VAR_046741 VAR_046741 disease not phenotype-associated VAR_046742 commonName VAR_046742 VAR_046742 disease not phenotype-associated VAR_046743 commonName VAR_046743 VAR_046743 disease phenotype-associated VAR_046743 phenoCommon Brachydactyly type A2 (BDA2) [MIM:112600] VAR_046744 commonName VAR_046744 VAR_046744 disease phenotype-associated VAR_046744 phenoCommon Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187] VAR_046745 commonName VAR_046745 VAR_046745 disease phenotype-associated VAR_046745 phenoCommon Microcephaly primary type 1 (MCPH1) [MIM:251200] VAR_046746 commonName VAR_046746 VAR_046746 disease not phenotype-associated VAR_046747 commonName VAR_046747 VAR_046747 disease not phenotype-associated VAR_046748 commonName VAR_046748 VAR_046748 disease not phenotype-associated VAR_046749 commonName VAR_046749 VAR_046749 disease not phenotype-associated VAR_046750 commonName VAR_046750 VAR_046750 disease not phenotype-associated VAR_046751 commonName VAR_046751 VAR_046751 disease not phenotype-associated VAR_046752 commonName VAR_046752 VAR_046752 disease not phenotype-associated VAR_046753 commonName VAR_046753 VAR_046753 disease not phenotype-associated VAR_046754 commonName VAR_046754 VAR_046754 disease not phenotype-associated VAR_046755 commonName VAR_046755 VAR_046755 disease not phenotype-associated VAR_046756 commonName VAR_046756 VAR_046756 disease not phenotype-associated VAR_046757 commonName VAR_046757 VAR_046757 disease not phenotype-associated VAR_046758 commonName VAR_046758 VAR_046758 disease not phenotype-associated VAR_046759 commonName VAR_046759 VAR_046759 disease not phenotype-associated VAR_046760 commonName VAR_046760 VAR_046760 disease not phenotype-associated VAR_046761 commonName VAR_046761 VAR_046761 disease not phenotype-associated VAR_046762 commonName VAR_046762 VAR_046762 disease not phenotype-associated VAR_046763 commonName VAR_046763 VAR_046763 disease not phenotype-associated VAR_046764 comment A colorectal adenocarcinoma sample VAR_046764 commonName VAR_046764 VAR_046767 commonName VAR_046767 VAR_046767 disease phenotype-associated VAR_046767 phenoCommon Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] VAR_046768 commonName VAR_046768 VAR_046768 disease phenotype-associated VAR_046768 phenoCommon Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] VAR_046769 commonName VAR_046769 VAR_046769 disease phenotype-associated VAR_046769 phenoCommon Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120] VAR_046770 comment A lung large cell carcinoma sample VAR_046770 commonName VAR_046770 VAR_046771 commonName VAR_046771 VAR_046771 disease not phenotype-associated VAR_046772 commonName VAR_046772 VAR_046772 disease not phenotype-associated VAR_046773 commonName VAR_046773 VAR_046773 disease not phenotype-associated VAR_046775 commonName VAR_046775 VAR_046775 disease phenotype-associated VAR_046775 phenoCommon Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] VAR_046776 commonName VAR_046776 VAR_046776 disease not phenotype-associated VAR_046778 commonName VAR_046778 VAR_046778 disease not phenotype-associated VAR_046779 commonName VAR_046779 VAR_046779 disease not phenotype-associated VAR_046780 commonName VAR_046780 VAR_046781 commonName VAR_046781 VAR_046781 disease not phenotype-associated VAR_046782 commonName VAR_046782 VAR_046782 disease not phenotype-associated VAR_046783 commonName VAR_046783 VAR_046783 disease not phenotype-associated VAR_046784 commonName VAR_046784 VAR_046784 disease not phenotype-associated VAR_046785 commonName VAR_046785 VAR_046785 disease not phenotype-associated VAR_046786 commonName VAR_046786 VAR_046786 disease not phenotype-associated VAR_046788 commonName VAR_046788 VAR_046788 disease phenotype-associated VAR_046788 phenoCommon Osteopetrosis autosomal recessive type 7 (OPTB7) [MIM:612301] VAR_046789 commonName VAR_046789 VAR_046789 disease phenotype-associated VAR_046789 phenoCommon Osteopetrosis autosomal recessive type 7 (OPTB7) [MIM:612301] VAR_046790 commonName VAR_046790 VAR_046790 disease not phenotype-associated VAR_046791 commonName VAR_046791 VAR_046791 disease phenotype-associated VAR_046791 phenoCommon Osteopetrosis autosomal recessive type 7 (OPTB7) [MIM:612301] VAR_046792 commonName VAR_046792 VAR_046792 disease phenotype-associated VAR_046792 phenoCommon Osteopetrosis autosomal recessive type 7 (OPTB7) [MIM:612301] VAR_046793 commonName VAR_046793 VAR_046793 disease phenotype-associated VAR_046793 phenoCommon Osteopetrosis autosomal recessive type 7 (OPTB7) [MIM:612301] VAR_046796 commonName VAR_046796 VAR_046796 disease not phenotype-associated VAR_046797 commonName VAR_046797 VAR_046797 disease not phenotype-associated VAR_046798 commonName VAR_046798 VAR_046798 disease not phenotype-associated VAR_046799 commonName VAR_046799 VAR_046799 disease not phenotype-associated VAR_046800 commonName VAR_046800 VAR_046800 disease not phenotype-associated VAR_046801 commonName VAR_046801 VAR_046801 disease not phenotype-associated VAR_046802 commonName VAR_046802 VAR_046802 disease phenotype-associated VAR_046802 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046803 commonName VAR_046803 VAR_046803 disease phenotype-associated VAR_046803 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046804 commonName VAR_046804 VAR_046804 disease phenotype-associated VAR_046804 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046805 commonName VAR_046805 VAR_046805 disease phenotype-associated VAR_046805 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046806 commonName VAR_046806 VAR_046806 disease phenotype-associated VAR_046806 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046807 commonName VAR_046807 VAR_046807 disease phenotype-associated VAR_046807 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046808 commonName VAR_046808 VAR_046808 disease phenotype-associated VAR_046808 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046809 commonName VAR_046809 VAR_046809 disease phenotype-associated VAR_046809 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046810 commonName VAR_046810 VAR_046810 disease phenotype-associated VAR_046810 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046811 commonName VAR_046811 VAR_046811 disease not phenotype-associated VAR_046812 commonName VAR_046812 VAR_046812 disease phenotype-associated VAR_046812 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046813 commonName VAR_046813 VAR_046813 disease phenotype-associated VAR_046813 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046814 commonName VAR_046814 VAR_046814 disease phenotype-associated VAR_046814 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046815 commonName VAR_046815 VAR_046815 disease phenotype-associated VAR_046815 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046816 commonName VAR_046816 VAR_046816 disease phenotype-associated VAR_046816 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046817 commonName VAR_046817 VAR_046817 disease phenotype-associated VAR_046817 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046818 commonName VAR_046818 VAR_046818 disease not phenotype-associated VAR_046819 commonName VAR_046819 VAR_046819 disease phenotype-associated VAR_046819 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046820 commonName VAR_046820 VAR_046820 disease phenotype-associated VAR_046820 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046821 commonName VAR_046821 VAR_046821 disease phenotype-associated VAR_046821 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046822 commonName VAR_046822 VAR_046822 disease phenotype-associated VAR_046822 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046823 commonName VAR_046823 VAR_046823 disease phenotype-associated VAR_046823 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046824 commonName VAR_046824 VAR_046824 disease phenotype-associated VAR_046824 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046825 commonName VAR_046825 VAR_046825 disease phenotype-associated VAR_046825 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046826 commonName VAR_046826 VAR_046826 disease phenotype-associated VAR_046826 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046827 commonName VAR_046827 VAR_046827 disease phenotype-associated VAR_046827 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046828 commonName VAR_046828 VAR_046828 disease not phenotype-associated VAR_046829 commonName VAR_046829 VAR_046829 disease phenotype-associated VAR_046829 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046830 commonName VAR_046830 VAR_046830 disease phenotype-associated VAR_046830 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046831 commonName VAR_046831 VAR_046831 disease phenotype-associated VAR_046831 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046832 commonName VAR_046832 VAR_046832 disease phenotype-associated VAR_046832 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046833 commonName VAR_046833 VAR_046833 disease phenotype-associated VAR_046833 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046834 commonName VAR_046834 VAR_046834 disease phenotype-associated VAR_046834 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046835 commonName VAR_046835 VAR_046835 disease phenotype-associated VAR_046835 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046836 commonName VAR_046836 VAR_046836 disease phenotype-associated VAR_046836 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046837 commonName VAR_046837 VAR_046837 disease phenotype-associated VAR_046837 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046838 commonName VAR_046838 VAR_046838 disease phenotype-associated VAR_046838 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046839 commonName VAR_046839 VAR_046839 disease phenotype-associated VAR_046839 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046840 commonName VAR_046840 VAR_046840 disease phenotype-associated VAR_046840 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046841 commonName VAR_046841 VAR_046841 disease phenotype-associated VAR_046841 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046842 commonName VAR_046842 VAR_046842 disease phenotype-associated VAR_046842 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046843 commonName VAR_046843 VAR_046843 disease phenotype-associated VAR_046843 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046844 commonName VAR_046844 VAR_046844 disease phenotype-associated VAR_046844 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046845 commonName VAR_046845 VAR_046845 disease phenotype-associated VAR_046845 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046846 commonName VAR_046846 VAR_046846 disease phenotype-associated VAR_046846 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046847 commonName VAR_046847 VAR_046847 disease phenotype-associated VAR_046847 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046848 commonName VAR_046848 VAR_046848 disease phenotype-associated VAR_046848 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046849 commonName VAR_046849 VAR_046849 disease phenotype-associated VAR_046849 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046850 commonName VAR_046850 VAR_046850 disease phenotype-associated VAR_046850 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046851 commonName VAR_046851 VAR_046851 disease phenotype-associated VAR_046851 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046852 commonName VAR_046852 VAR_046852 disease phenotype-associated VAR_046852 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046853 commonName VAR_046853 VAR_046853 disease phenotype-associated VAR_046853 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046854 commonName VAR_046854 VAR_046854 disease phenotype-associated VAR_046854 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046855 commonName VAR_046855 VAR_046855 disease phenotype-associated VAR_046855 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046856 commonName VAR_046856 VAR_046856 disease not phenotype-associated VAR_046857 commonName VAR_046857 VAR_046857 disease phenotype-associated VAR_046857 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046858 commonName VAR_046858 VAR_046858 disease phenotype-associated VAR_046858 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046859 commonName VAR_046859 VAR_046859 disease phenotype-associated VAR_046859 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046860 commonName VAR_046860 VAR_046860 disease phenotype-associated VAR_046860 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046861 commonName VAR_046861 VAR_046861 disease not phenotype-associated VAR_046862 commonName VAR_046862 VAR_046862 disease phenotype-associated VAR_046862 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046863 commonName VAR_046863 VAR_046863 disease phenotype-associated VAR_046863 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046864 commonName VAR_046864 VAR_046864 disease phenotype-associated VAR_046864 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046865 commonName VAR_046865 VAR_046865 disease phenotype-associated VAR_046865 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046866 commonName VAR_046866 VAR_046866 disease phenotype-associated VAR_046866 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046867 commonName VAR_046867 VAR_046867 disease phenotype-associated VAR_046867 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046868 commonName VAR_046868 VAR_046868 disease phenotype-associated VAR_046868 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046869 commonName VAR_046869 VAR_046869 disease phenotype-associated VAR_046869 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046870 commonName VAR_046870 VAR_046870 disease phenotype-associated VAR_046870 phenoCommon Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336] VAR_046892 commonName VAR_046892 VAR_046893 commonName VAR_046893 VAR_046893 disease phenotype-associated VAR_046893 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219] VAR_046894 commonName VAR_046894 VAR_046894 disease phenotype-associated VAR_046894 phenoCommon Carney complex type 1 (CNC1) [MIM:160980] VAR_046895 commonName VAR_046895 VAR_046895 disease phenotype-associated VAR_046895 phenoCommon Carney complex type 1 (CNC1) [MIM:160980] VAR_046896 commonName VAR_046896 VAR_046896 disease phenotype-associated VAR_046896 phenoCommon Carney complex type 1 (CNC1) [MIM:160980] VAR_046897 commonName VAR_046897 VAR_046897 disease phenotype-associated VAR_046897 phenoCommon Carney complex type 1 (CNC1) [MIM:160980] VAR_046898 commonName VAR_046898 VAR_046898 disease phenotype-associated VAR_046898 phenoCommon Carney complex type 1 (CNC1) [MIM:160980] VAR_046899 commonName VAR_046899 VAR_046899 disease phenotype-associated VAR_046899 phenoCommon Carney complex type 1 (CNC1) [MIM:160980] VAR_046900 commonName VAR_046900 VAR_046900 disease phenotype-associated VAR_046900 phenoCommon Congenital central hypoventilation syndrome (CCHS) [MIM:209880] VAR_046901 commonName VAR_046901 VAR_046901 disease phenotype-associated VAR_046901 phenoCommon Congenital central hypoventilation syndrome (CCHS) [MIM:209880] VAR_046902 commonName VAR_046902 VAR_046903 commonName VAR_046903 VAR_046903 disease phenotype-associated VAR_046903 phenoCommon Klippel-Feil syndrome type 1 (KFS1) [MIM:118100] VAR_046903 phenoCommon Microphthalmia isolated type 4 (MCOP4) [MIM:613094] VAR_046904 commonName VAR_046904 VAR_046904 disease phenotype-associated VAR_046904 phenoCommon Klippel-Feil syndrome type 1 (KFS1) [MIM:118100] VAR_046906 commonName VAR_046906 VAR_046906 disease phenotype-associated VAR_046906 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] VAR_046907 commonName VAR_046907 VAR_046907 disease phenotype-associated VAR_046907 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] VAR_046908 commonName VAR_046908 VAR_046908 disease phenotype-associated VAR_046908 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] VAR_046909 commonName VAR_046909 VAR_046909 disease phenotype-associated VAR_046909 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] VAR_046910 commonName VAR_046910 VAR_046910 disease phenotype-associated VAR_046910 phenoCommon Spastic paraplegia X-linked type 2 (SPG2) [MIM:312920] VAR_046911 commonName VAR_046911 VAR_046911 disease phenotype-associated VAR_046911 phenoCommon Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080] VAR_046921 commonName VAR_046921 VAR_046922 commonName VAR_046922 VAR_046922 disease not phenotype-associated VAR_046923 commonName VAR_046923 VAR_046923 disease phenotype-associated VAR_046923 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_046924 commonName VAR_046924 VAR_046924 disease phenotype-associated VAR_046924 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_046925 commonName VAR_046925 VAR_046925 disease phenotype-associated VAR_046925 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_046926 commonName VAR_046926 VAR_046926 disease phenotype-associated VAR_046926 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_046927 commonName VAR_046927 VAR_046927 disease phenotype-associated VAR_046927 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_046928 commonName VAR_046928 VAR_046928 disease phenotype-associated VAR_046928 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_046929 commonName VAR_046929 VAR_046929 disease phenotype-associated VAR_046929 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_046932 commonName VAR_046932 VAR_046932 disease phenotype-associated VAR_046932 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_046933 commonName VAR_046933 VAR_046933 disease phenotype-associated VAR_046933 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_046934 commonName VAR_046934 VAR_046934 disease phenotype-associated VAR_046934 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_046935 commonName VAR_046935 VAR_046935 disease phenotype-associated VAR_046935 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_046936 commonName VAR_046936 VAR_046936 disease phenotype-associated VAR_046936 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_046939 commonName VAR_046939 VAR_046939 disease not phenotype-associated VAR_046940 commonName VAR_046940 VAR_046940 disease not phenotype-associated VAR_046941 commonName VAR_046941 VAR_046941 disease not phenotype-associated VAR_046942 commonName VAR_046942 VAR_046942 disease not phenotype-associated VAR_046943 commonName VAR_046943 VAR_046943 disease not phenotype-associated VAR_046944 commonName VAR_046944 VAR_046944 disease not phenotype-associated VAR_046945 commonName VAR_046945 VAR_046945 disease not phenotype-associated VAR_046946 commonName VAR_046946 VAR_046946 disease not phenotype-associated VAR_046947 commonName VAR_046947 VAR_046947 disease not phenotype-associated VAR_046948 commonName VAR_046948 VAR_046948 disease not phenotype-associated VAR_046949 commonName VAR_046949 VAR_046949 disease not phenotype-associated VAR_046950 commonName VAR_046950 VAR_046950 disease not phenotype-associated VAR_046951 commonName VAR_046951 VAR_046951 disease not phenotype-associated VAR_046952 commonName VAR_046952 VAR_046952 disease not phenotype-associated VAR_046953 commonName VAR_046953 VAR_046953 disease not phenotype-associated VAR_046954 commonName VAR_046954 VAR_046955 commonName VAR_046955 VAR_046955 disease not phenotype-associated VAR_046956 commonName VAR_046956 VAR_046956 disease not phenotype-associated VAR_046958 commonName VAR_046958 VAR_046958 disease not phenotype-associated VAR_046959 commonName VAR_046959 VAR_046959 disease not phenotype-associated VAR_046960 commonName VAR_046960 VAR_046960 disease not phenotype-associated VAR_046961 commonName VAR_046961 VAR_046961 disease not phenotype-associated VAR_046962 commonName VAR_046962 VAR_046962 disease not phenotype-associated VAR_046963 commonName VAR_046963 VAR_046963 disease not phenotype-associated VAR_046966 commonName VAR_046966 VAR_046966 disease not phenotype-associated VAR_046967 commonName VAR_046967 VAR_046967 disease not phenotype-associated VAR_046969 commonName VAR_046969 VAR_046969 disease not phenotype-associated VAR_046970 commonName VAR_046970 VAR_046970 disease not phenotype-associated VAR_046971 commonName VAR_046971 VAR_046971 disease not phenotype-associated VAR_046972 commonName VAR_046972 VAR_046972 disease not phenotype-associated VAR_046973 commonName VAR_046973 VAR_046973 disease not phenotype-associated VAR_046974 commonName VAR_046974 VAR_046974 disease not phenotype-associated VAR_046975 commonName VAR_046975 VAR_046975 disease not phenotype-associated VAR_046976 commonName VAR_046976 VAR_046976 disease not phenotype-associated VAR_046977 commonName VAR_046977 VAR_046977 disease not phenotype-associated VAR_046978 commonName VAR_046978 VAR_046978 disease not phenotype-associated VAR_046979 commonName VAR_046979 VAR_046979 disease not phenotype-associated VAR_046980 commonName VAR_046980 VAR_046980 disease not phenotype-associated VAR_046981 commonName VAR_046981 VAR_046981 disease not phenotype-associated VAR_046982 commonName VAR_046982 VAR_046982 disease not phenotype-associated VAR_046983 commonName VAR_046983 VAR_046983 disease not phenotype-associated VAR_046984 commonName VAR_046984 VAR_046984 disease not phenotype-associated VAR_046985 commonName VAR_046985 VAR_046985 disease not phenotype-associated VAR_046986 commonName VAR_046986 VAR_046986 disease not phenotype-associated VAR_046987 commonName VAR_046987 VAR_046987 disease not phenotype-associated VAR_046988 commonName VAR_046988 VAR_046988 disease not phenotype-associated VAR_046989 commonName VAR_046989 VAR_046989 disease not phenotype-associated VAR_046990 commonName VAR_046990 VAR_046990 disease not phenotype-associated VAR_046993 commonName VAR_046993 VAR_046993 disease not phenotype-associated VAR_046994 commonName VAR_046994 VAR_046994 disease not phenotype-associated VAR_046995 commonName VAR_046995 VAR_046995 disease not phenotype-associated VAR_046996 commonName VAR_046996 VAR_046996 disease not phenotype-associated VAR_046997 commonName VAR_046997 VAR_046997 disease not phenotype-associated VAR_046998 commonName VAR_046998 VAR_046998 disease not phenotype-associated VAR_046999 commonName VAR_046999 VAR_046999 disease not phenotype-associated VAR_047000 commonName VAR_047000 VAR_047000 disease not phenotype-associated VAR_047001 commonName VAR_047001 VAR_047001 disease not phenotype-associated VAR_047002 commonName VAR_047002 VAR_047002 disease not phenotype-associated VAR_047003 commonName VAR_047003 VAR_047003 disease not phenotype-associated VAR_047004 commonName VAR_047004 VAR_047004 disease not phenotype-associated VAR_047005 commonName VAR_047005 VAR_047005 disease not phenotype-associated VAR_047006 commonName VAR_047006 VAR_047006 disease not phenotype-associated VAR_047007 commonName VAR_047007 VAR_047007 disease not phenotype-associated VAR_047008 commonName VAR_047008 VAR_047008 disease not phenotype-associated VAR_047009 commonName VAR_047009 VAR_047009 disease not phenotype-associated VAR_047010 commonName VAR_047010 VAR_047010 disease not phenotype-associated VAR_047011 commonName VAR_047011 VAR_047011 disease not phenotype-associated VAR_047012 commonName VAR_047012 VAR_047012 disease not phenotype-associated VAR_047013 commonName VAR_047013 VAR_047013 disease not phenotype-associated VAR_047015 commonName VAR_047015 VAR_047015 disease not phenotype-associated VAR_047016 commonName VAR_047016 VAR_047016 disease not phenotype-associated VAR_047017 commonName VAR_047017 VAR_047017 disease not phenotype-associated VAR_047018 commonName VAR_047018 VAR_047018 disease not phenotype-associated VAR_047019 commonName VAR_047019 VAR_047019 disease not phenotype-associated VAR_047023 commonName VAR_047023 VAR_047023 disease not phenotype-associated VAR_047024 commonName VAR_047024 VAR_047024 disease not phenotype-associated VAR_047025 commonName VAR_047025 VAR_047025 disease not phenotype-associated VAR_047026 commonName VAR_047026 VAR_047026 disease not phenotype-associated VAR_047027 commonName VAR_047027 VAR_047027 disease not phenotype-associated VAR_047028 commonName VAR_047028 VAR_047028 disease not phenotype-associated VAR_047029 commonName VAR_047029 VAR_047029 disease not phenotype-associated VAR_047030 commonName VAR_047030 VAR_047030 disease not phenotype-associated VAR_047031 commonName VAR_047031 VAR_047031 disease not phenotype-associated VAR_047032 commonName VAR_047032 VAR_047032 disease not phenotype-associated VAR_047033 commonName VAR_047033 VAR_047033 disease not phenotype-associated VAR_047034 commonName VAR_047034 VAR_047034 disease not phenotype-associated VAR_047035 commonName VAR_047035 VAR_047035 disease not phenotype-associated VAR_047036 commonName VAR_047036 VAR_047036 disease not phenotype-associated VAR_047037 commonName VAR_047037 VAR_047037 disease not phenotype-associated VAR_047038 commonName VAR_047038 VAR_047038 disease not phenotype-associated VAR_047039 commonName VAR_047039 VAR_047039 disease not phenotype-associated VAR_047040 commonName VAR_047040 VAR_047040 disease not phenotype-associated VAR_047041 commonName VAR_047041 VAR_047041 disease not phenotype-associated VAR_047042 commonName VAR_047042 VAR_047042 disease not phenotype-associated VAR_047043 commonName VAR_047043 VAR_047043 disease not phenotype-associated VAR_047044 commonName VAR_047044 VAR_047044 disease not phenotype-associated VAR_047045 commonName VAR_047045 VAR_047045 disease not phenotype-associated VAR_047047 commonName VAR_047047 VAR_047047 disease not phenotype-associated VAR_047048 commonName VAR_047048 VAR_047048 disease not phenotype-associated VAR_047050 commonName VAR_047050 VAR_047050 disease not phenotype-associated VAR_047051 commonName VAR_047051 VAR_047051 disease not phenotype-associated VAR_047052 commonName VAR_047052 VAR_047052 disease not phenotype-associated VAR_047053 commonName VAR_047053 VAR_047053 disease not phenotype-associated VAR_047054 commonName VAR_047054 VAR_047054 disease not phenotype-associated VAR_047055 commonName VAR_047055 VAR_047055 disease not phenotype-associated VAR_047056 commonName VAR_047056 VAR_047056 disease not phenotype-associated VAR_047057 commonName VAR_047057 VAR_047057 disease not phenotype-associated VAR_047058 commonName VAR_047058 VAR_047058 disease not phenotype-associated VAR_047059 commonName VAR_047059 VAR_047059 disease not phenotype-associated VAR_047060 commonName VAR_047060 VAR_047060 disease not phenotype-associated VAR_047061 commonName VAR_047061 VAR_047061 disease not phenotype-associated VAR_047062 commonName VAR_047062 VAR_047062 disease not phenotype-associated VAR_047063 commonName VAR_047063 VAR_047063 disease not phenotype-associated VAR_047064 commonName VAR_047064 VAR_047064 disease not phenotype-associated VAR_047065 commonName VAR_047065 VAR_047065 disease not phenotype-associated VAR_047066 commonName VAR_047066 VAR_047066 disease not phenotype-associated VAR_047067 commonName VAR_047067 VAR_047067 disease not phenotype-associated VAR_047068 commonName VAR_047068 VAR_047068 disease not phenotype-associated VAR_047072 commonName VAR_047072 VAR_047072 disease not phenotype-associated VAR_047073 commonName VAR_047073 VAR_047073 disease not phenotype-associated VAR_047074 commonName VAR_047074 VAR_047074 disease not phenotype-associated VAR_047075 commonName VAR_047075 VAR_047075 disease not phenotype-associated VAR_047076 commonName VAR_047076 VAR_047076 disease not phenotype-associated VAR_047077 commonName VAR_047077 VAR_047077 disease not phenotype-associated VAR_047078 commonName VAR_047078 VAR_047078 disease not phenotype-associated VAR_047079 commonName VAR_047079 VAR_047079 disease not phenotype-associated VAR_047080 commonName VAR_047080 VAR_047080 disease not phenotype-associated VAR_047081 commonName VAR_047081 VAR_047081 disease not phenotype-associated VAR_047082 commonName VAR_047082 VAR_047082 disease not phenotype-associated VAR_047083 commonName VAR_047083 VAR_047083 disease not phenotype-associated VAR_047084 commonName VAR_047084 VAR_047084 disease not phenotype-associated VAR_047085 commonName VAR_047085 VAR_047085 disease not phenotype-associated VAR_047086 commonName VAR_047086 VAR_047086 disease not phenotype-associated VAR_047087 commonName VAR_047087 VAR_047087 disease not phenotype-associated VAR_047091 commonName VAR_047091 VAR_047091 disease not phenotype-associated VAR_047092 commonName VAR_047092 VAR_047092 disease not phenotype-associated VAR_047093 commonName VAR_047093 VAR_047093 disease not phenotype-associated VAR_047094 commonName VAR_047094 VAR_047094 disease not phenotype-associated VAR_047095 commonName VAR_047095 VAR_047095 disease not phenotype-associated VAR_047096 commonName VAR_047096 VAR_047096 disease not phenotype-associated VAR_047097 commonName VAR_047097 VAR_047097 disease not phenotype-associated VAR_047098 commonName VAR_047098 VAR_047098 disease not phenotype-associated VAR_047099 commonName VAR_047099 VAR_047099 disease not phenotype-associated VAR_047100 commonName VAR_047100 VAR_047100 disease not phenotype-associated VAR_047102 commonName VAR_047102 VAR_047102 disease not phenotype-associated VAR_047103 commonName VAR_047103 VAR_047103 disease not phenotype-associated VAR_047104 commonName VAR_047104 VAR_047104 disease not phenotype-associated VAR_047105 commonName VAR_047105 VAR_047105 disease not phenotype-associated VAR_047106 commonName VAR_047106 VAR_047106 disease not phenotype-associated VAR_047107 commonName VAR_047107 VAR_047107 disease not phenotype-associated VAR_047108 commonName VAR_047108 VAR_047108 disease not phenotype-associated VAR_047110 commonName VAR_047110 VAR_047110 disease not phenotype-associated VAR_047111 commonName VAR_047111 VAR_047111 disease not phenotype-associated VAR_047112 commonName VAR_047112 VAR_047112 disease phenotype-associated VAR_047112 phenoCommon Total anomalous pulmonary venous return (TAPVR) [MIM:106700] VAR_047113 commonName VAR_047113 VAR_047113 disease not phenotype-associated VAR_047114 commonName VAR_047114 VAR_047114 disease not phenotype-associated VAR_047115 commonName VAR_047115 VAR_047115 disease not phenotype-associated VAR_047116 commonName VAR_047116 VAR_047116 disease not phenotype-associated VAR_047117 commonName VAR_047117 VAR_047117 disease not phenotype-associated VAR_047118 commonName VAR_047118 VAR_047118 disease not phenotype-associated VAR_047119 commonName VAR_047119 VAR_047119 disease not phenotype-associated VAR_047120 commonName VAR_047120 VAR_047120 disease not phenotype-associated VAR_047121 commonName VAR_047121 VAR_047121 disease not phenotype-associated VAR_047126 commonName VAR_047126 VAR_047126 disease not phenotype-associated VAR_047127 commonName VAR_047127 VAR_047127 disease not phenotype-associated VAR_047128 commonName VAR_047128 VAR_047128 disease not phenotype-associated VAR_047129 commonName VAR_047129 VAR_047129 disease not phenotype-associated VAR_047130 commonName VAR_047130 VAR_047130 disease not phenotype-associated VAR_047131 commonName VAR_047131 VAR_047131 disease not phenotype-associated VAR_047132 commonName VAR_047132 VAR_047132 disease not phenotype-associated VAR_047133 commonName VAR_047133 VAR_047133 disease not phenotype-associated VAR_047134 commonName VAR_047134 VAR_047134 disease not phenotype-associated VAR_047135 commonName VAR_047135 VAR_047135 disease not phenotype-associated VAR_047136 commonName VAR_047136 VAR_047136 disease not phenotype-associated VAR_047137 commonName VAR_047137 VAR_047137 disease not phenotype-associated VAR_047138 commonName VAR_047138 VAR_047138 disease not phenotype-associated VAR_047139 commonName VAR_047139 VAR_047139 disease not phenotype-associated VAR_047140 commonName VAR_047140 VAR_047140 disease not phenotype-associated VAR_047141 commonName VAR_047141 VAR_047141 disease not phenotype-associated VAR_047142 commonName VAR_047142 VAR_047142 disease not phenotype-associated VAR_047143 commonName VAR_047143 VAR_047143 disease not phenotype-associated VAR_047145 commonName VAR_047145 VAR_047145 disease not phenotype-associated VAR_047146 commonName VAR_047146 VAR_047146 disease not phenotype-associated VAR_047147 commonName VAR_047147 VAR_047147 disease not phenotype-associated VAR_047148 commonName VAR_047148 VAR_047148 disease not phenotype-associated VAR_047150 commonName VAR_047150 VAR_047150 disease not phenotype-associated VAR_047151 commonName VAR_047151 VAR_047151 disease not phenotype-associated VAR_047152 commonName VAR_047152 VAR_047152 disease not phenotype-associated VAR_047154 commonName VAR_047154 VAR_047154 disease not phenotype-associated VAR_047155 commonName VAR_047155 VAR_047155 disease not phenotype-associated VAR_047156 commonName VAR_047156 VAR_047156 disease not phenotype-associated VAR_047157 commonName VAR_047157 VAR_047157 disease not phenotype-associated VAR_047169 comment Sporadic cancers VAR_047169 commonName VAR_047169 VAR_047172 comment A sporadic cancer VAR_047172 commonName VAR_047172 VAR_047175 comment Sporadic cancers VAR_047175 commonName VAR_047175 VAR_047177 comment Sporadic cancers VAR_047177 commonName VAR_047177 VAR_047178 commonName VAR_047178 VAR_047178 disease not phenotype-associated VAR_047179 comment A sporadic cancer VAR_047179 commonName VAR_047179 VAR_047180 comment Sporadic cancers VAR_047180 commonName VAR_047180 VAR_047181 comment Sporadic cancers VAR_047181 commonName VAR_047181 VAR_047182 comment An adrenocortical carcinoma with no family history VAR_047182 commonName VAR_047182 VAR_047183 commonName VAR_047183 VAR_047183 disease phenotype-associated VAR_047183 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_047186 comment Sporadic cancers VAR_047186 commonName VAR_047186 VAR_047189 comment Sporadic cancers VAR_047189 commonName VAR_047189 VAR_047192 comment Sporadic cancers VAR_047192 commonName VAR_047192 VAR_047193 comment Sporadic cancers VAR_047193 commonName VAR_047193 VAR_047194 comment A sporadic cancer VAR_047194 commonName VAR_047194 VAR_047196 comment Sporadic cancers VAR_047196 commonName VAR_047196 VAR_047197 comment Sporadic cancers VAR_047197 commonName VAR_047197 VAR_047198 comment A sporadic cancer VAR_047198 commonName VAR_047198 VAR_047199 comment An osteosarcoma with no family history VAR_047199 commonName VAR_047199 VAR_047200 comment Sporadic cancers VAR_047200 commonName VAR_047200 VAR_047201 comment Sporadic cancers VAR_047201 commonName VAR_047201 VAR_047202 commonName VAR_047202 VAR_047202 disease phenotype-associated VAR_047202 phenoCommon Li-Fraumeni syndrome (LFS) [MIM:151623] VAR_047204 comment A sporadic cancer VAR_047204 commonName VAR_047204 VAR_047205 comment Sporadic cancers VAR_047205 commonName VAR_047205 VAR_047206 comment Sporadic cancers VAR_047206 commonName VAR_047206 VAR_047207 comment Sporadic cancers VAR_047207 commonName VAR_047207 VAR_047208 comment A sporadic cancer VAR_047208 commonName VAR_047208 VAR_047209 comment A sporadic cancer VAR_047209 commonName VAR_047209 VAR_047210 comment A sporadic cancer VAR_047210 commonName VAR_047210 VAR_047211 comment A sporadic cancer VAR_047211 commonName VAR_047211 VAR_047212 comment A sporadic cancer VAR_047212 commonName VAR_047212 VAR_047213 comment Sporadic cancers VAR_047213 commonName VAR_047213 VAR_047216 commonName VAR_047216 VAR_047216 disease not phenotype-associated VAR_047217 commonName VAR_047217 VAR_047217 disease not phenotype-associated VAR_047218 commonName VAR_047218 VAR_047218 disease not phenotype-associated VAR_047219 commonName VAR_047219 VAR_047219 disease not phenotype-associated VAR_047220 commonName VAR_047220 VAR_047220 disease not phenotype-associated VAR_047221 commonName VAR_047221 VAR_047221 disease not phenotype-associated VAR_047222 commonName VAR_047222 VAR_047222 disease not phenotype-associated VAR_047223 commonName VAR_047223 VAR_047223 disease not phenotype-associated VAR_047224 commonName VAR_047224 VAR_047224 disease not phenotype-associated VAR_047225 commonName VAR_047225 VAR_047225 disease not phenotype-associated VAR_047226 commonName VAR_047226 VAR_047226 disease not phenotype-associated VAR_047227 commonName VAR_047227 VAR_047227 disease not phenotype-associated VAR_047228 commonName VAR_047228 VAR_047228 disease not phenotype-associated VAR_047229 commonName VAR_047229 VAR_047229 disease not phenotype-associated VAR_047230 commonName VAR_047230 VAR_047230 disease not phenotype-associated VAR_047231 commonName VAR_047231 VAR_047231 disease not phenotype-associated VAR_047232 commonName VAR_047232 VAR_047232 disease not phenotype-associated VAR_047233 commonName VAR_047233 VAR_047233 disease not phenotype-associated VAR_047234 commonName VAR_047234 VAR_047234 disease not phenotype-associated VAR_047235 commonName VAR_047235 VAR_047235 disease not phenotype-associated VAR_047236 commonName VAR_047236 VAR_047236 disease not phenotype-associated VAR_047237 commonName VAR_047237 VAR_047237 disease not phenotype-associated VAR_047238 commonName VAR_047238 VAR_047238 disease not phenotype-associated VAR_047239 commonName VAR_047239 VAR_047239 disease not phenotype-associated VAR_047240 commonName VAR_047240 VAR_047240 disease not phenotype-associated VAR_047241 commonName VAR_047241 VAR_047241 disease not phenotype-associated VAR_047242 commonName VAR_047242 VAR_047242 disease not phenotype-associated VAR_047243 commonName VAR_047243 VAR_047243 disease not phenotype-associated VAR_047244 commonName VAR_047244 VAR_047244 disease not phenotype-associated VAR_047245 commonName VAR_047245 VAR_047245 disease not phenotype-associated VAR_047246 commonName VAR_047246 VAR_047246 disease not phenotype-associated VAR_047247 commonName VAR_047247 VAR_047247 disease not phenotype-associated VAR_047248 commonName VAR_047248 VAR_047248 disease not phenotype-associated VAR_047249 commonName VAR_047249 VAR_047249 disease not phenotype-associated VAR_047250 commonName VAR_047250 VAR_047250 disease not phenotype-associated VAR_047251 commonName VAR_047251 VAR_047251 disease not phenotype-associated VAR_047252 commonName VAR_047252 VAR_047252 disease not phenotype-associated VAR_047253 commonName VAR_047253 VAR_047253 disease not phenotype-associated VAR_047254 commonName VAR_047254 VAR_047254 disease not phenotype-associated VAR_047255 commonName VAR_047255 VAR_047255 disease not phenotype-associated VAR_047258 commonName VAR_047258 VAR_047258 disease not phenotype-associated VAR_047259 commonName VAR_047259 VAR_047259 disease not phenotype-associated VAR_047260 commonName VAR_047260 VAR_047260 disease not phenotype-associated VAR_047261 commonName VAR_047261 VAR_047261 disease not phenotype-associated VAR_047263 commonName VAR_047263 VAR_047263 disease not phenotype-associated VAR_047264 commonName VAR_047264 VAR_047264 disease phenotype-associated VAR_047264 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] VAR_047266 commonName VAR_047266 VAR_047266 disease phenotype-associated VAR_047266 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] VAR_047267 commonName VAR_047267 VAR_047267 disease phenotype-associated VAR_047267 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] VAR_047268 commonName VAR_047268 VAR_047268 disease phenotype-associated VAR_047268 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] VAR_047269 commonName VAR_047269 VAR_047269 disease phenotype-associated VAR_047269 phenoCommon Granulomatous disease,chronic, X-linked (CGD) [MIM:306400] VAR_047277 commonName VAR_047277 VAR_047277 disease not phenotype-associated VAR_047278 commonName VAR_047278 VAR_047278 disease not phenotype-associated VAR_047279 commonName VAR_047279 VAR_047279 disease not phenotype-associated VAR_047280 commonName VAR_047280 VAR_047280 disease not phenotype-associated VAR_047281 commonName VAR_047281 VAR_047281 disease not phenotype-associated VAR_047282 commonName VAR_047282 VAR_047282 disease not phenotype-associated VAR_047283 commonName VAR_047283 VAR_047283 disease not phenotype-associated VAR_047284 commonName VAR_047284 VAR_047284 disease not phenotype-associated VAR_047285 commonName VAR_047285 VAR_047285 disease not phenotype-associated VAR_047286 commonName VAR_047286 VAR_047286 disease not phenotype-associated VAR_047287 commonName VAR_047287 VAR_047287 disease not phenotype-associated VAR_047288 commonName VAR_047288 VAR_047288 disease not phenotype-associated VAR_047289 commonName VAR_047289 VAR_047289 disease not phenotype-associated VAR_047290 commonName VAR_047290 VAR_047290 disease not phenotype-associated VAR_047291 commonName VAR_047291 VAR_047291 disease not phenotype-associated VAR_047292 commonName VAR_047292 VAR_047292 disease not phenotype-associated VAR_047303 commonName VAR_047303 VAR_047303 disease not phenotype-associated VAR_047304 commonName VAR_047304 VAR_047304 disease not phenotype-associated VAR_047305 commonName VAR_047305 VAR_047305 disease not phenotype-associated VAR_047306 commonName VAR_047306 VAR_047306 disease not phenotype-associated VAR_047308 commonName VAR_047308 VAR_047308 disease not phenotype-associated VAR_047309 commonName VAR_047309 VAR_047309 disease not phenotype-associated VAR_047311 commonName VAR_047311 VAR_047311 disease not phenotype-associated VAR_047312 commonName VAR_047312 VAR_047312 disease not phenotype-associated VAR_047313 commonName VAR_047313 VAR_047313 disease not phenotype-associated VAR_047314 commonName VAR_047314 VAR_047314 disease not phenotype-associated VAR_047315 commonName VAR_047315 VAR_047315 disease not phenotype-associated VAR_047316 commonName VAR_047316 VAR_047316 disease not phenotype-associated VAR_047317 commonName VAR_047317 VAR_047317 disease not phenotype-associated VAR_047318 commonName VAR_047318 VAR_047318 disease not phenotype-associated VAR_047319 commonName VAR_047319 VAR_047319 disease not phenotype-associated VAR_047320 commonName VAR_047320 VAR_047320 disease not phenotype-associated VAR_047321 commonName VAR_047321 VAR_047321 disease not phenotype-associated VAR_047322 commonName VAR_047322 VAR_047322 disease not phenotype-associated VAR_047323 commonName VAR_047323 VAR_047323 disease not phenotype-associated VAR_047324 commonName VAR_047324 VAR_047324 disease not phenotype-associated VAR_047325 commonName VAR_047325 VAR_047325 disease not phenotype-associated VAR_047326 commonName VAR_047326 VAR_047326 disease not phenotype-associated VAR_047327 commonName VAR_047327 VAR_047327 disease not phenotype-associated VAR_047328 commonName VAR_047328 VAR_047328 disease not phenotype-associated VAR_047329 commonName VAR_047329 VAR_047329 disease not phenotype-associated VAR_047330 commonName VAR_047330 VAR_047330 disease not phenotype-associated VAR_047331 commonName VAR_047331 VAR_047331 disease not phenotype-associated VAR_047332 commonName VAR_047332 VAR_047332 disease not phenotype-associated VAR_047333 commonName VAR_047333 VAR_047333 disease not phenotype-associated VAR_047334 commonName VAR_047334 VAR_047334 disease not phenotype-associated VAR_047335 commonName VAR_047335 VAR_047335 disease not phenotype-associated VAR_047336 commonName VAR_047336 VAR_047336 disease not phenotype-associated VAR_047337 commonName VAR_047337 VAR_047337 disease not phenotype-associated VAR_047338 commonName VAR_047338 VAR_047338 disease not phenotype-associated VAR_047339 commonName VAR_047339 VAR_047339 disease not phenotype-associated VAR_047340 commonName VAR_047340 VAR_047340 disease not phenotype-associated VAR_047343 commonName VAR_047343 VAR_047343 disease not phenotype-associated VAR_047344 commonName VAR_047344 VAR_047344 disease not phenotype-associated VAR_047345 commonName VAR_047345 VAR_047345 disease not phenotype-associated VAR_047346 commonName VAR_047346 VAR_047346 disease not phenotype-associated VAR_047347 commonName VAR_047347 VAR_047347 disease not phenotype-associated VAR_047348 commonName VAR_047348 VAR_047348 disease not phenotype-associated VAR_047349 commonName VAR_047349 VAR_047349 disease phenotype-associated VAR_047349 phenoCommon Psoriasis type 13 (PSORS13) [MIM:614070] VAR_047350 commonName VAR_047350 VAR_047350 disease not phenotype-associated VAR_047351 commonName VAR_047351 VAR_047351 disease not phenotype-associated VAR_047352 commonName VAR_047352 VAR_047352 disease not phenotype-associated VAR_047353 commonName VAR_047353 VAR_047353 disease not phenotype-associated VAR_047354 commonName VAR_047354 VAR_047354 disease not phenotype-associated VAR_047357 commonName VAR_047357 VAR_047357 disease not phenotype-associated VAR_047358 commonName VAR_047358 VAR_047358 disease not phenotype-associated VAR_047359 commonName VAR_047359 VAR_047359 disease not phenotype-associated VAR_047360 commonName VAR_047360 VAR_047360 disease not phenotype-associated VAR_047361 commonName VAR_047361 VAR_047361 disease not phenotype-associated VAR_047362 commonName VAR_047362 VAR_047362 disease not phenotype-associated VAR_047364 commonName VAR_047364 VAR_047364 disease not phenotype-associated VAR_047367 commonName VAR_047367 VAR_047367 disease not phenotype-associated VAR_047368 commonName VAR_047368 VAR_047368 disease not phenotype-associated VAR_047369 commonName VAR_047369 VAR_047369 disease not phenotype-associated VAR_047370 commonName VAR_047370 VAR_047370 disease not phenotype-associated VAR_047371 commonName VAR_047371 VAR_047371 disease not phenotype-associated VAR_047372 commonName VAR_047372 VAR_047372 disease not phenotype-associated VAR_047373 commonName VAR_047373 VAR_047373 disease not phenotype-associated VAR_047374 commonName VAR_047374 VAR_047374 disease not phenotype-associated VAR_047375 commonName VAR_047375 VAR_047375 disease not phenotype-associated VAR_047376 commonName VAR_047376 VAR_047376 disease not phenotype-associated VAR_047381 commonName VAR_047381 VAR_047381 disease not phenotype-associated VAR_047382 commonName VAR_047382 VAR_047382 disease not phenotype-associated VAR_047383 commonName VAR_047383 VAR_047383 disease not phenotype-associated VAR_047384 commonName VAR_047384 VAR_047384 disease not phenotype-associated VAR_047385 commonName VAR_047385 VAR_047385 disease not phenotype-associated VAR_047389 commonName VAR_047389 VAR_047389 disease not phenotype-associated VAR_047390 commonName VAR_047390 VAR_047390 disease not phenotype-associated VAR_047391 commonName VAR_047391 VAR_047391 disease not phenotype-associated VAR_047392 commonName VAR_047392 VAR_047392 disease not phenotype-associated VAR_047393 commonName VAR_047393 VAR_047393 disease not phenotype-associated VAR_047394 commonName VAR_047394 VAR_047394 disease not phenotype-associated VAR_047395 commonName VAR_047395 VAR_047395 disease not phenotype-associated VAR_047396 commonName VAR_047396 VAR_047396 disease not phenotype-associated VAR_047397 commonName VAR_047397 VAR_047397 disease not phenotype-associated VAR_047398 commonName VAR_047398 VAR_047398 disease not phenotype-associated VAR_047399 commonName VAR_047399 VAR_047399 disease not phenotype-associated VAR_047400 commonName VAR_047400 VAR_047400 disease not phenotype-associated VAR_047401 commonName VAR_047401 VAR_047401 disease not phenotype-associated VAR_047402 commonName VAR_047402 VAR_047402 disease not phenotype-associated VAR_047403 commonName VAR_047403 VAR_047403 disease not phenotype-associated VAR_047407 commonName VAR_047407 VAR_047407 disease not phenotype-associated VAR_047409 commonName VAR_047409 VAR_047409 disease not phenotype-associated VAR_047410 commonName VAR_047410 VAR_047410 disease not phenotype-associated VAR_047411 commonName VAR_047411 VAR_047411 disease not phenotype-associated VAR_047412 commonName VAR_047412 VAR_047412 disease not phenotype-associated VAR_047413 commonName VAR_047413 VAR_047413 disease not phenotype-associated VAR_047414 commonName VAR_047414 VAR_047414 disease not phenotype-associated VAR_047415 commonName VAR_047415 VAR_047415 disease not phenotype-associated VAR_047416 commonName VAR_047416 VAR_047416 disease not phenotype-associated VAR_047417 commonName VAR_047417 VAR_047417 disease not phenotype-associated VAR_047418 commonName VAR_047418 VAR_047418 disease not phenotype-associated VAR_047419 commonName VAR_047419 VAR_047419 disease not phenotype-associated VAR_047420 commonName VAR_047420 VAR_047420 disease not phenotype-associated VAR_047421 commonName VAR_047421 VAR_047421 disease not phenotype-associated VAR_047423 commonName VAR_047423 VAR_047423 disease not phenotype-associated VAR_047424 commonName VAR_047424 VAR_047424 disease not phenotype-associated VAR_047425 commonName VAR_047425 VAR_047425 disease not phenotype-associated VAR_047426 commonName VAR_047426 VAR_047426 disease not phenotype-associated VAR_047427 commonName VAR_047427 VAR_047427 disease not phenotype-associated VAR_047429 commonName VAR_047429 VAR_047429 disease not phenotype-associated VAR_047430 commonName VAR_047430 VAR_047430 disease not phenotype-associated VAR_047431 commonName VAR_047431 VAR_047431 disease not phenotype-associated VAR_047432 commonName VAR_047432 VAR_047432 disease not phenotype-associated VAR_047433 commonName VAR_047433 VAR_047433 disease not phenotype-associated VAR_047434 commonName VAR_047434 VAR_047434 disease not phenotype-associated VAR_047435 commonName VAR_047435 VAR_047435 disease not phenotype-associated VAR_047436 commonName VAR_047436 VAR_047436 disease not phenotype-associated VAR_047437 commonName VAR_047437 VAR_047437 disease not phenotype-associated VAR_047438 commonName VAR_047438 VAR_047438 disease not phenotype-associated VAR_047439 commonName VAR_047439 VAR_047439 disease not phenotype-associated VAR_047440 commonName VAR_047440 VAR_047440 disease not phenotype-associated VAR_047441 commonName VAR_047441 VAR_047441 disease not phenotype-associated VAR_047442 commonName VAR_047442 VAR_047442 disease not phenotype-associated VAR_047443 commonName VAR_047443 VAR_047443 disease not phenotype-associated VAR_047444 commonName VAR_047444 VAR_047444 disease not phenotype-associated VAR_047445 commonName VAR_047445 VAR_047445 disease not phenotype-associated VAR_047446 commonName VAR_047446 VAR_047446 disease not phenotype-associated VAR_047447 commonName VAR_047447 VAR_047447 disease not phenotype-associated VAR_047448 commonName VAR_047448 VAR_047448 disease not phenotype-associated VAR_047449 commonName VAR_047449 VAR_047449 disease not phenotype-associated VAR_047450 commonName VAR_047450 VAR_047450 disease not phenotype-associated VAR_047451 commonName VAR_047451 VAR_047451 disease not phenotype-associated VAR_047452 commonName VAR_047452 VAR_047452 disease not phenotype-associated VAR_047453 commonName VAR_047453 VAR_047453 disease not phenotype-associated VAR_047454 commonName VAR_047454 VAR_047454 disease not phenotype-associated VAR_047455 commonName VAR_047455 VAR_047455 disease not phenotype-associated VAR_047456 commonName VAR_047456 VAR_047456 disease not phenotype-associated VAR_047457 commonName VAR_047457 VAR_047457 disease not phenotype-associated VAR_047458 commonName VAR_047458 VAR_047458 disease not phenotype-associated VAR_047459 commonName VAR_047459 VAR_047459 disease not phenotype-associated VAR_047460 commonName VAR_047460 VAR_047460 disease not phenotype-associated VAR_047461 commonName VAR_047461 VAR_047461 disease not phenotype-associated VAR_047462 commonName VAR_047462 VAR_047462 disease not phenotype-associated VAR_047463 commonName VAR_047463 VAR_047463 disease not phenotype-associated VAR_047465 commonName VAR_047465 VAR_047465 disease not phenotype-associated VAR_047466 commonName VAR_047466 VAR_047466 disease not phenotype-associated VAR_047467 commonName VAR_047467 VAR_047467 disease not phenotype-associated VAR_047469 commonName VAR_047469 VAR_047469 disease not phenotype-associated VAR_047471 commonName VAR_047471 VAR_047471 disease not phenotype-associated VAR_047472 commonName VAR_047472 VAR_047472 disease not phenotype-associated VAR_047473 commonName VAR_047473 VAR_047473 disease not phenotype-associated VAR_047474 commonName VAR_047474 VAR_047474 disease not phenotype-associated VAR_047475 commonName VAR_047475 VAR_047475 disease not phenotype-associated VAR_047476 commonName VAR_047476 VAR_047476 disease not phenotype-associated VAR_047477 commonName VAR_047477 VAR_047477 disease not phenotype-associated VAR_047478 commonName VAR_047478 VAR_047478 disease not phenotype-associated VAR_047479 commonName VAR_047479 VAR_047479 disease not phenotype-associated VAR_047480 commonName VAR_047480 VAR_047480 disease not phenotype-associated VAR_047481 commonName VAR_047481 VAR_047481 disease not phenotype-associated VAR_047482 commonName VAR_047482 VAR_047482 disease not phenotype-associated VAR_047483 commonName VAR_047483 VAR_047483 disease not phenotype-associated VAR_047484 commonName VAR_047484 VAR_047484 disease not phenotype-associated VAR_047488 commonName VAR_047488 VAR_047488 disease not phenotype-associated VAR_047489 commonName VAR_047489 VAR_047489 disease not phenotype-associated VAR_047490 commonName VAR_047490 VAR_047490 disease not phenotype-associated VAR_047491 commonName VAR_047491 VAR_047491 disease not phenotype-associated VAR_047492 commonName VAR_047492 VAR_047492 disease not phenotype-associated VAR_047493 commonName VAR_047493 VAR_047493 disease not phenotype-associated VAR_047494 commonName VAR_047494 VAR_047494 disease not phenotype-associated VAR_047495 commonName VAR_047495 VAR_047495 disease not phenotype-associated VAR_047496 commonName VAR_047496 VAR_047496 disease not phenotype-associated VAR_047497 commonName VAR_047497 VAR_047497 disease not phenotype-associated VAR_047500 commonName VAR_047500 VAR_047500 disease not phenotype-associated VAR_047501 commonName VAR_047501 VAR_047501 disease not phenotype-associated VAR_047502 commonName VAR_047502 VAR_047502 disease not phenotype-associated VAR_047503 commonName VAR_047503 VAR_047503 disease not phenotype-associated VAR_047504 commonName VAR_047504 VAR_047504 disease not phenotype-associated VAR_047505 commonName VAR_047505 VAR_047505 disease not phenotype-associated VAR_047506 commonName VAR_047506 VAR_047506 disease not phenotype-associated VAR_047507 commonName VAR_047507 VAR_047507 disease not phenotype-associated VAR_047508 commonName VAR_047508 VAR_047508 disease not phenotype-associated VAR_047509 commonName VAR_047509 VAR_047509 disease not phenotype-associated VAR_047510 commonName VAR_047510 VAR_047510 disease not phenotype-associated VAR_047511 commonName VAR_047511 VAR_047511 disease not phenotype-associated VAR_047512 commonName VAR_047512 VAR_047512 disease not phenotype-associated VAR_047513 commonName VAR_047513 VAR_047513 disease not phenotype-associated VAR_047515 commonName VAR_047515 VAR_047515 disease not phenotype-associated VAR_047516 commonName VAR_047516 VAR_047516 disease not phenotype-associated VAR_047519 commonName VAR_047519 VAR_047519 disease not phenotype-associated VAR_047520 commonName VAR_047520 VAR_047520 disease not phenotype-associated VAR_047521 commonName VAR_047521 VAR_047521 disease not phenotype-associated VAR_047522 commonName VAR_047522 VAR_047522 disease not phenotype-associated VAR_047523 commonName VAR_047523 VAR_047523 disease not phenotype-associated VAR_047524 commonName VAR_047524 VAR_047524 disease not phenotype-associated VAR_047525 commonName VAR_047525 VAR_047525 disease not phenotype-associated VAR_047526 commonName VAR_047526 VAR_047526 disease not phenotype-associated VAR_047527 commonName VAR_047527 VAR_047527 disease not phenotype-associated VAR_047530 commonName VAR_047530 VAR_047530 disease not phenotype-associated VAR_047531 commonName VAR_047531 VAR_047531 disease not phenotype-associated VAR_047532 commonName VAR_047532 VAR_047532 disease not phenotype-associated VAR_047533 commonName VAR_047533 VAR_047533 disease not phenotype-associated VAR_047534 commonName VAR_047534 VAR_047534 disease not phenotype-associated VAR_047535 commonName VAR_047535 VAR_047535 disease not phenotype-associated VAR_047536 commonName VAR_047536 VAR_047536 disease not phenotype-associated VAR_047537 commonName VAR_047537 VAR_047537 disease not phenotype-associated VAR_047538 commonName VAR_047538 VAR_047538 disease not phenotype-associated VAR_047540 commonName VAR_047540 VAR_047540 disease not phenotype-associated VAR_047541 commonName VAR_047541 VAR_047541 disease not phenotype-associated VAR_047542 commonName VAR_047542 VAR_047542 disease not phenotype-associated VAR_047543 commonName VAR_047543 VAR_047543 disease not phenotype-associated VAR_047544 commonName VAR_047544 VAR_047544 disease not phenotype-associated VAR_047545 commonName VAR_047545 VAR_047545 disease not phenotype-associated VAR_047546 commonName VAR_047546 VAR_047546 disease not phenotype-associated VAR_047547 commonName VAR_047547 VAR_047547 disease not phenotype-associated VAR_047548 commonName VAR_047548 VAR_047548 disease not phenotype-associated VAR_047549 commonName VAR_047549 VAR_047549 disease not phenotype-associated VAR_047550 commonName VAR_047550 VAR_047550 disease not phenotype-associated VAR_047551 commonName VAR_047551 VAR_047551 disease not phenotype-associated VAR_047552 commonName VAR_047552 VAR_047552 disease not phenotype-associated VAR_047553 commonName VAR_047553 VAR_047553 disease not phenotype-associated VAR_047554 commonName VAR_047554 VAR_047554 disease phenotype-associated VAR_047554 phenoCommon Deafness autosomal recessive type 63 (DFNB63) [MIM:611451] VAR_047555 commonName VAR_047555 VAR_047555 disease phenotype-associated VAR_047555 phenoCommon Deafness autosomal recessive type 63 (DFNB63) [MIM:611451] VAR_047556 commonName VAR_047556 VAR_047556 disease phenotype-associated VAR_047556 phenoCommon Deafness autosomal recessive type 63 (DFNB63) [MIM:611451] VAR_047557 commonName VAR_047557 VAR_047557 disease not phenotype-associated VAR_047558 commonName VAR_047558 VAR_047558 disease not phenotype-associated VAR_047560 commonName VAR_047560 VAR_047560 disease not phenotype-associated VAR_047561 commonName VAR_047561 VAR_047561 disease not phenotype-associated VAR_047562 commonName VAR_047562 VAR_047562 disease not phenotype-associated VAR_047563 commonName VAR_047563 VAR_047563 disease not phenotype-associated VAR_047564 commonName VAR_047564 VAR_047564 disease not phenotype-associated VAR_047565 commonName VAR_047565 VAR_047565 disease not phenotype-associated VAR_047566 commonName VAR_047566 VAR_047566 disease phenotype-associated VAR_047566 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047567 commonName VAR_047567 VAR_047567 disease phenotype-associated VAR_047567 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047568 commonName VAR_047568 VAR_047568 disease phenotype-associated VAR_047568 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047569 commonName VAR_047569 VAR_047569 disease phenotype-associated VAR_047569 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047570 commonName VAR_047570 VAR_047570 disease phenotype-associated VAR_047570 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047571 commonName VAR_047571 VAR_047571 disease phenotype-associated VAR_047571 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047572 commonName VAR_047572 VAR_047572 disease phenotype-associated VAR_047572 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047573 commonName VAR_047573 VAR_047573 disease phenotype-associated VAR_047573 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047574 commonName VAR_047574 VAR_047574 disease phenotype-associated VAR_047574 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047575 commonName VAR_047575 VAR_047575 disease phenotype-associated VAR_047575 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047576 commonName VAR_047576 VAR_047576 disease phenotype-associated VAR_047576 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047577 commonName VAR_047577 VAR_047577 disease phenotype-associated VAR_047577 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047578 commonName VAR_047578 VAR_047578 disease phenotype-associated VAR_047578 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047579 commonName VAR_047579 VAR_047579 disease phenotype-associated VAR_047579 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047580 commonName VAR_047580 VAR_047580 disease phenotype-associated VAR_047580 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047582 commonName VAR_047582 VAR_047582 disease phenotype-associated VAR_047582 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047583 commonName VAR_047583 VAR_047583 disease phenotype-associated VAR_047583 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047584 commonName VAR_047584 VAR_047584 disease phenotype-associated VAR_047584 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047585 commonName VAR_047585 VAR_047585 disease phenotype-associated VAR_047585 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047586 commonName VAR_047586 VAR_047586 disease phenotype-associated VAR_047586 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047587 commonName VAR_047587 VAR_047587 disease phenotype-associated VAR_047587 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047588 commonName VAR_047588 VAR_047588 disease phenotype-associated VAR_047588 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047589 commonName VAR_047589 VAR_047589 disease phenotype-associated VAR_047589 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047590 commonName VAR_047590 VAR_047590 disease phenotype-associated VAR_047590 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047591 commonName VAR_047591 VAR_047591 disease phenotype-associated VAR_047591 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047592 commonName VAR_047592 VAR_047592 disease phenotype-associated VAR_047592 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047593 commonName VAR_047593 VAR_047593 disease phenotype-associated VAR_047593 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047594 commonName VAR_047594 VAR_047594 disease phenotype-associated VAR_047594 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047595 commonName VAR_047595 VAR_047595 disease phenotype-associated VAR_047595 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047596 commonName VAR_047596 VAR_047596 disease phenotype-associated VAR_047596 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047597 commonName VAR_047597 VAR_047597 disease phenotype-associated VAR_047597 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047598 commonName VAR_047598 VAR_047598 disease phenotype-associated VAR_047598 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047599 commonName VAR_047599 VAR_047599 disease phenotype-associated VAR_047599 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047600 commonName VAR_047600 VAR_047600 disease phenotype-associated VAR_047600 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047601 commonName VAR_047601 VAR_047601 disease phenotype-associated VAR_047601 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047602 commonName VAR_047602 VAR_047602 disease phenotype-associated VAR_047602 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047603 commonName VAR_047603 VAR_047603 disease phenotype-associated VAR_047603 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047604 commonName VAR_047604 VAR_047604 disease phenotype-associated VAR_047604 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047605 commonName VAR_047605 VAR_047605 disease phenotype-associated VAR_047605 phenoCommon Achromatopsia type 2 (ACHM2) [MIM:216900] VAR_047606 commonName VAR_047606 VAR_047606 disease not phenotype-associated VAR_047607 commonName VAR_047607 VAR_047607 disease not phenotype-associated VAR_047608 commonName VAR_047608 VAR_047608 disease phenotype-associated VAR_047608 phenoCommon Achromatopsia type 3 (ACHM3) [MIM:262300] VAR_047609 commonName VAR_047609 VAR_047609 disease phenotype-associated VAR_047609 phenoCommon Achromatopsia type 3 (ACHM3) [MIM:262300] VAR_047610 commonName VAR_047610 VAR_047610 disease phenotype-associated VAR_047610 phenoCommon Achromatopsia type 3 (ACHM3) [MIM:262300] VAR_047611 commonName VAR_047611 VAR_047611 disease phenotype-associated VAR_047611 phenoCommon Achromatopsia type 3 (ACHM3) [MIM:262300] VAR_047612 commonName VAR_047612 VAR_047612 disease phenotype-associated VAR_047612 phenoCommon Achromatopsia type 3 (ACHM3) [MIM:262300] VAR_047613 commonName VAR_047613 VAR_047614 commonName VAR_047614 VAR_047614 disease phenotype-associated VAR_047614 phenoCommon Achromatopsia type 3 (ACHM3) [MIM:262300] VAR_047615 commonName VAR_047615 VAR_047615 disease phenotype-associated VAR_047615 phenoCommon Stargardt disease type 1 (STGD1) [MIM:248200] VAR_047616 commonName VAR_047616 VAR_047616 disease phenotype-associated VAR_047616 phenoCommon Achromatopsia type 3 (ACHM3) [MIM:262300] VAR_047617 commonName VAR_047617 VAR_047617 disease phenotype-associated VAR_047617 phenoCommon Achromatopsia type 3 (ACHM3) [MIM:262300] VAR_047618 commonName VAR_047618 VAR_047618 disease phenotype-associated VAR_047618 phenoCommon Achromatopsia type 3 (ACHM3) [MIM:262300] VAR_047619 commonName VAR_047619 VAR_047619 disease phenotype-associated VAR_047619 phenoCommon Achromatopsia type 3 (ACHM3) [MIM:262300] VAR_047620 commonName VAR_047620 VAR_047620 disease phenotype-associated VAR_047620 phenoCommon Achromatopsia type 3 (ACHM3) [MIM:262300] VAR_047621 commonName VAR_047621 VAR_047621 disease phenotype-associated VAR_047621 phenoCommon Achromatopsia type 3 (ACHM3) [MIM:262300] VAR_047623 commonName VAR_047623 VAR_047623 disease not phenotype-associated VAR_047624 commonName VAR_047624 VAR_047624 disease not phenotype-associated VAR_047626 commonName VAR_047626 VAR_047626 disease not phenotype-associated VAR_047627 commonName VAR_047627 VAR_047627 disease not phenotype-associated VAR_047628 commonName VAR_047628 VAR_047628 disease not phenotype-associated VAR_047629 commonName VAR_047629 VAR_047629 disease not phenotype-associated VAR_047630 commonName VAR_047630 VAR_047630 disease not phenotype-associated VAR_047631 commonName VAR_047631 VAR_047631 disease not phenotype-associated VAR_047632 commonName VAR_047632 VAR_047632 disease not phenotype-associated VAR_047633 commonName VAR_047633 VAR_047633 disease not phenotype-associated VAR_047634 commonName VAR_047634 VAR_047634 disease not phenotype-associated VAR_047635 commonName VAR_047635 VAR_047635 disease not phenotype-associated VAR_047636 commonName VAR_047636 VAR_047636 disease not phenotype-associated VAR_047637 commonName VAR_047637 VAR_047637 disease not phenotype-associated VAR_047638 commonName VAR_047638 VAR_047638 disease not phenotype-associated VAR_047639 commonName VAR_047639 VAR_047639 disease not phenotype-associated VAR_047640 commonName VAR_047640 VAR_047640 disease not phenotype-associated VAR_047641 commonName VAR_047641 VAR_047641 disease not phenotype-associated VAR_047643 commonName VAR_047643 VAR_047643 disease not phenotype-associated VAR_047644 commonName VAR_047644 VAR_047644 disease not phenotype-associated VAR_047645 commonName VAR_047645 VAR_047645 disease not phenotype-associated VAR_047646 commonName VAR_047646 VAR_047646 disease not phenotype-associated VAR_047647 commonName VAR_047647 VAR_047647 disease not phenotype-associated VAR_047648 commonName VAR_047648 VAR_047648 disease not phenotype-associated VAR_047649 commonName VAR_047649 VAR_047649 disease not phenotype-associated VAR_047650 commonName VAR_047650 VAR_047650 disease not phenotype-associated VAR_047651 commonName VAR_047651 VAR_047651 disease not phenotype-associated VAR_047652 commonName VAR_047652 VAR_047652 disease not phenotype-associated VAR_047653 commonName VAR_047653 VAR_047653 disease not phenotype-associated VAR_047654 commonName VAR_047654 VAR_047654 disease not phenotype-associated VAR_047655 commonName VAR_047655 VAR_047655 disease not phenotype-associated VAR_047656 commonName VAR_047656 VAR_047656 disease not phenotype-associated VAR_047657 commonName VAR_047657 VAR_047657 disease not phenotype-associated VAR_047658 commonName VAR_047658 VAR_047658 disease not phenotype-associated VAR_047659 commonName VAR_047659 VAR_047659 disease not phenotype-associated VAR_047660 commonName VAR_047660 VAR_047660 disease not phenotype-associated VAR_047661 commonName VAR_047661 VAR_047661 disease not phenotype-associated VAR_047662 commonName VAR_047662 VAR_047662 disease not phenotype-associated VAR_047663 commonName VAR_047663 VAR_047663 disease not phenotype-associated VAR_047664 commonName VAR_047664 VAR_047664 disease not phenotype-associated VAR_047665 commonName VAR_047665 VAR_047665 disease not phenotype-associated VAR_047666 commonName VAR_047666 VAR_047666 disease not phenotype-associated VAR_047667 commonName VAR_047667 VAR_047667 disease not phenotype-associated VAR_047668 commonName VAR_047668 VAR_047668 disease not phenotype-associated VAR_047669 commonName VAR_047669 VAR_047669 disease not phenotype-associated VAR_047670 commonName VAR_047670 VAR_047670 disease not phenotype-associated VAR_047671 commonName VAR_047671 VAR_047671 disease not phenotype-associated VAR_047672 commonName VAR_047672 VAR_047672 disease not phenotype-associated VAR_047675 commonName VAR_047675 VAR_047675 disease not phenotype-associated VAR_047676 commonName VAR_047676 VAR_047676 disease not phenotype-associated VAR_047677 commonName VAR_047677 VAR_047677 disease not phenotype-associated VAR_047678 commonName VAR_047678 VAR_047678 disease not phenotype-associated VAR_047679 commonName VAR_047679 VAR_047679 disease not phenotype-associated VAR_047680 commonName VAR_047680 VAR_047680 disease not phenotype-associated VAR_047681 commonName VAR_047681 VAR_047681 disease not phenotype-associated VAR_047682 commonName VAR_047682 VAR_047682 disease not phenotype-associated VAR_047691 commonName VAR_047691 VAR_047691 disease not phenotype-associated VAR_047692 commonName VAR_047692 VAR_047692 disease not phenotype-associated VAR_047693 commonName VAR_047693 VAR_047693 disease not phenotype-associated VAR_047694 commonName VAR_047694 VAR_047694 disease not phenotype-associated VAR_047695 commonName VAR_047695 VAR_047695 disease not phenotype-associated VAR_047696 commonName VAR_047696 VAR_047696 disease not phenotype-associated VAR_047697 commonName VAR_047697 VAR_047697 disease not phenotype-associated VAR_047698 commonName VAR_047698 VAR_047698 disease not phenotype-associated VAR_047699 commonName VAR_047699 VAR_047699 disease not phenotype-associated VAR_047700 commonName VAR_047700 VAR_047700 disease not phenotype-associated VAR_047701 commonName VAR_047701 VAR_047701 disease not phenotype-associated VAR_047702 commonName VAR_047702 VAR_047702 disease not phenotype-associated VAR_047703 commonName VAR_047703 VAR_047703 disease not phenotype-associated VAR_047704 commonName VAR_047704 VAR_047704 disease not phenotype-associated VAR_047705 commonName VAR_047705 VAR_047705 disease not phenotype-associated VAR_047706 commonName VAR_047706 VAR_047706 disease not phenotype-associated VAR_047707 commonName VAR_047707 VAR_047707 disease not phenotype-associated VAR_047708 commonName VAR_047708 VAR_047708 disease not phenotype-associated VAR_047709 commonName VAR_047709 VAR_047709 disease not phenotype-associated VAR_047711 commonName VAR_047711 VAR_047711 disease not phenotype-associated VAR_047712 commonName VAR_047712 VAR_047712 disease not phenotype-associated VAR_047713 commonName VAR_047713 VAR_047713 disease not phenotype-associated VAR_047714 commonName VAR_047714 VAR_047714 disease not phenotype-associated VAR_047715 commonName VAR_047715 VAR_047715 disease not phenotype-associated VAR_047716 commonName VAR_047716 VAR_047716 disease not phenotype-associated VAR_047717 commonName VAR_047717 VAR_047717 disease not phenotype-associated VAR_047718 commonName VAR_047718 VAR_047718 disease not phenotype-associated VAR_047719 commonName VAR_047719 VAR_047719 disease not phenotype-associated VAR_047720 commonName VAR_047720 VAR_047720 disease not phenotype-associated VAR_047721 commonName VAR_047721 VAR_047721 disease not phenotype-associated VAR_047722 commonName VAR_047722 VAR_047722 disease not phenotype-associated VAR_047723 commonName VAR_047723 VAR_047723 disease not phenotype-associated VAR_047724 commonName VAR_047724 VAR_047724 disease not phenotype-associated VAR_047725 commonName VAR_047725 VAR_047725 disease not phenotype-associated VAR_047726 commonName VAR_047726 VAR_047726 disease not phenotype-associated VAR_047727 commonName VAR_047727 VAR_047727 disease not phenotype-associated VAR_047728 commonName VAR_047728 VAR_047728 disease not phenotype-associated VAR_047729 commonName VAR_047729 VAR_047729 disease not phenotype-associated VAR_047730 commonName VAR_047730 VAR_047730 disease not phenotype-associated VAR_047731 commonName VAR_047731 VAR_047731 disease not phenotype-associated VAR_047736 commonName VAR_047736 VAR_047736 disease not phenotype-associated VAR_047737 commonName VAR_047737 VAR_047737 disease not phenotype-associated VAR_047738 commonName VAR_047738 VAR_047738 disease not phenotype-associated VAR_047739 commonName VAR_047739 VAR_047739 disease not phenotype-associated VAR_047740 commonName VAR_047740 VAR_047740 disease not phenotype-associated VAR_047741 commonName VAR_047741 VAR_047741 disease not phenotype-associated VAR_047742 commonName VAR_047742 VAR_047742 disease not phenotype-associated VAR_047743 commonName VAR_047743 VAR_047743 disease not phenotype-associated VAR_047744 commonName VAR_047744 VAR_047744 disease not phenotype-associated VAR_047745 commonName VAR_047745 VAR_047745 disease not phenotype-associated VAR_047746 commonName VAR_047746 VAR_047746 disease not phenotype-associated VAR_047747 commonName VAR_047747 VAR_047747 disease not phenotype-associated VAR_047748 commonName VAR_047748 VAR_047748 disease not phenotype-associated VAR_047749 commonName VAR_047749 VAR_047749 disease not phenotype-associated VAR_047750 commonName VAR_047750 VAR_047750 disease not phenotype-associated VAR_047751 commonName VAR_047751 VAR_047751 disease not phenotype-associated VAR_047752 commonName VAR_047752 VAR_047752 disease not phenotype-associated VAR_047753 commonName VAR_047753 VAR_047753 disease not phenotype-associated VAR_047755 commonName VAR_047755 VAR_047755 disease not phenotype-associated VAR_047757 commonName VAR_047757 VAR_047757 disease not phenotype-associated VAR_047758 commonName VAR_047758 VAR_047758 disease not phenotype-associated VAR_047759 commonName VAR_047759 VAR_047759 disease not phenotype-associated VAR_047760 commonName VAR_047760 VAR_047760 disease not phenotype-associated VAR_047761 commonName VAR_047761 VAR_047761 disease not phenotype-associated VAR_047762 commonName VAR_047762 VAR_047762 disease not phenotype-associated VAR_047765 commonName VAR_047765 VAR_047765 disease not phenotype-associated VAR_047768 commonName VAR_047768 VAR_047768 disease not phenotype-associated VAR_047769 commonName VAR_047769 VAR_047769 disease not phenotype-associated VAR_047770 commonName VAR_047770 VAR_047770 disease phenotype-associated VAR_047770 phenoCommon Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] VAR_047771 commonName VAR_047771 VAR_047771 disease not phenotype-associated VAR_047772 commonName VAR_047772 VAR_047772 disease not phenotype-associated VAR_047773 commonName VAR_047773 VAR_047773 disease not phenotype-associated VAR_047774 commonName VAR_047774 VAR_047774 disease not phenotype-associated VAR_047775 commonName VAR_047775 VAR_047775 disease not phenotype-associated VAR_047776 commonName VAR_047776 VAR_047776 disease not phenotype-associated VAR_047777 commonName VAR_047777 VAR_047777 disease not phenotype-associated VAR_047780 commonName VAR_047780 VAR_047780 disease not phenotype-associated VAR_047781 commonName VAR_047781 VAR_047781 disease not phenotype-associated VAR_047782 commonName VAR_047782 VAR_047782 disease not phenotype-associated VAR_047783 commonName VAR_047783 VAR_047783 disease not phenotype-associated VAR_047784 commonName VAR_047784 VAR_047784 disease not phenotype-associated VAR_047785 commonName VAR_047785 VAR_047785 disease not phenotype-associated VAR_047786 commonName VAR_047786 VAR_047786 disease not phenotype-associated VAR_047787 commonName VAR_047787 VAR_047787 disease not phenotype-associated VAR_047788 commonName VAR_047788 VAR_047788 disease not phenotype-associated VAR_047789 commonName VAR_047789 VAR_047789 disease not phenotype-associated VAR_047790 commonName VAR_047790 VAR_047790 disease not phenotype-associated VAR_047791 commonName VAR_047791 VAR_047791 disease not phenotype-associated VAR_047792 commonName VAR_047792 VAR_047792 disease not phenotype-associated VAR_047793 commonName VAR_047793 VAR_047793 disease not phenotype-associated VAR_047794 commonName VAR_047794 VAR_047794 disease not phenotype-associated VAR_047795 commonName VAR_047795 VAR_047795 disease not phenotype-associated VAR_047796 commonName VAR_047796 VAR_047796 disease not phenotype-associated VAR_047797 commonName VAR_047797 VAR_047797 disease not phenotype-associated VAR_047798 commonName VAR_047798 VAR_047798 disease not phenotype-associated VAR_047799 commonName VAR_047799 VAR_047799 disease not phenotype-associated VAR_047800 commonName VAR_047800 VAR_047800 disease not phenotype-associated VAR_047801 commonName VAR_047801 VAR_047801 disease not phenotype-associated VAR_047802 commonName VAR_047802 VAR_047802 disease not phenotype-associated VAR_047803 commonName VAR_047803 VAR_047803 disease not phenotype-associated VAR_047804 commonName VAR_047804 VAR_047804 disease not phenotype-associated VAR_047805 commonName VAR_047805 VAR_047805 disease not phenotype-associated VAR_047806 commonName VAR_047806 VAR_047806 disease not phenotype-associated VAR_047807 commonName VAR_047807 VAR_047807 disease not phenotype-associated VAR_047808 commonName VAR_047808 VAR_047808 disease not phenotype-associated VAR_047809 commonName VAR_047809 VAR_047809 disease phenotype-associated VAR_047809 phenoCommon Corneal dystrophy Fuchs endothelial type 4 (FECD4) [MIM:613268] VAR_047810 commonName VAR_047810 VAR_047810 disease not phenotype-associated VAR_047811 commonName VAR_047811 VAR_047811 disease not phenotype-associated VAR_047812 commonName VAR_047812 VAR_047812 disease phenotype-associated VAR_047812 phenoCommon Corneal dystrophy Fuchs endothelial type 4 (FECD4) [MIM:613268] VAR_047813 commonName VAR_047813 VAR_047813 disease phenotype-associated VAR_047813 phenoCommon Corneal dystrophy Fuchs endothelial type 4 (FECD4) [MIM:613268] VAR_047814 commonName VAR_047814 VAR_047814 disease not phenotype-associated VAR_047815 commonName VAR_047815 VAR_047815 disease not phenotype-associated VAR_047816 commonName VAR_047816 VAR_047816 disease not phenotype-associated VAR_047817 commonName VAR_047817 VAR_047817 disease not phenotype-associated VAR_047818 commonName VAR_047818 VAR_047818 disease not phenotype-associated VAR_047819 commonName VAR_047819 VAR_047819 disease not phenotype-associated VAR_047820 commonName VAR_047820 VAR_047820 disease not phenotype-associated VAR_047821 commonName VAR_047821 VAR_047821 disease not phenotype-associated VAR_047822 commonName VAR_047822 VAR_047822 disease not phenotype-associated VAR_047823 commonName VAR_047823 VAR_047823 disease not phenotype-associated VAR_047824 commonName VAR_047824 VAR_047824 disease not phenotype-associated VAR_047825 commonName VAR_047825 VAR_047825 disease not phenotype-associated VAR_047826 commonName VAR_047826 VAR_047826 disease not phenotype-associated VAR_047827 commonName VAR_047827 VAR_047827 disease not phenotype-associated VAR_047828 commonName VAR_047828 VAR_047828 disease not phenotype-associated VAR_047829 commonName VAR_047829 VAR_047829 disease not phenotype-associated VAR_047830 commonName VAR_047830 VAR_047830 disease not phenotype-associated VAR_047831 commonName VAR_047831 VAR_047831 disease not phenotype-associated VAR_047832 commonName VAR_047832 VAR_047832 disease not phenotype-associated VAR_047833 commonName VAR_047833 VAR_047833 disease not phenotype-associated VAR_047834 commonName VAR_047834 VAR_047834 disease not phenotype-associated VAR_047835 commonName VAR_047835 VAR_047835 disease not phenotype-associated VAR_047836 commonName VAR_047836 VAR_047836 disease not phenotype-associated VAR_047837 commonName VAR_047837 VAR_047837 disease not phenotype-associated VAR_047838 commonName VAR_047838 VAR_047838 disease not phenotype-associated VAR_047839 commonName VAR_047839 VAR_047839 disease not phenotype-associated VAR_047840 commonName VAR_047840 VAR_047840 disease not phenotype-associated VAR_047841 commonName VAR_047841 VAR_047841 disease not phenotype-associated VAR_047842 commonName VAR_047842 VAR_047842 disease not phenotype-associated VAR_047843 commonName VAR_047843 VAR_047843 disease not phenotype-associated VAR_047844 commonName VAR_047844 VAR_047844 disease not phenotype-associated VAR_047845 commonName VAR_047845 VAR_047845 disease not phenotype-associated VAR_047846 commonName VAR_047846 VAR_047846 disease not phenotype-associated VAR_047847 commonName VAR_047847 VAR_047847 disease not phenotype-associated VAR_047848 commonName VAR_047848 VAR_047848 disease not phenotype-associated VAR_047849 commonName VAR_047849 VAR_047849 disease not phenotype-associated VAR_047850 commonName VAR_047850 VAR_047850 disease not phenotype-associated VAR_047851 commonName VAR_047851 VAR_047851 disease not phenotype-associated VAR_047856 commonName VAR_047856 VAR_047856 disease phenotype-associated VAR_047856 phenoCommon Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD) [MIM:143095] VAR_047857 commonName VAR_047857 VAR_047857 disease phenotype-associated VAR_047857 phenoCommon Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD) [MIM:143095] VAR_047858 commonName VAR_047858 VAR_047858 disease phenotype-associated VAR_047858 phenoCommon Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD) [MIM:143095] VAR_047859 commonName VAR_047859 VAR_047859 disease phenotype-associated VAR_047859 phenoCommon Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD) [MIM:143095] VAR_047860 commonName VAR_047860 VAR_047860 disease phenotype-associated VAR_047860 phenoCommon Aniridia (AN) [MIM:106210] VAR_047861 commonName VAR_047861 VAR_047861 disease phenotype-associated VAR_047861 phenoCommon Aniridia (AN) [MIM:106210] VAR_047862 commonName VAR_047862 VAR_047862 disease phenotype-associated VAR_047862 phenoCommon Aniridia (AN) [MIM:106210] VAR_047863 commonName VAR_047863 VAR_047863 disease phenotype-associated VAR_047863 phenoCommon Aniridia (AN) [MIM:106210] VAR_047864 commonName VAR_047864 VAR_047864 disease phenotype-associated VAR_047864 phenoCommon Aniridia (AN) [MIM:106210] VAR_047865 commonName VAR_047865 VAR_047865 disease phenotype-associated VAR_047865 phenoCommon Aniridia (AN) [MIM:106210] VAR_047866 commonName VAR_047866 VAR_047866 disease phenotype-associated VAR_047866 phenoCommon Aniridia (AN) [MIM:106210] VAR_047867 commonName VAR_047867 VAR_047868 commonName VAR_047868 VAR_047868 disease not phenotype-associated VAR_047869 commonName VAR_047869 VAR_047869 disease phenotype-associated VAR_047869 phenoCommon Congenital hypothyroidism non-goitrous type 5 (CHNG5) [MIM:225250] VAR_047870 commonName VAR_047870 VAR_047870 disease phenotype-associated VAR_047870 phenoCommon Congenital hypothyroidism non-goitrous type 5 (CHNG5) [MIM:225250] VAR_047871 commonName VAR_047871 VAR_047871 disease not phenotype-associated VAR_047872 commonName VAR_047872 VAR_047872 disease not phenotype-associated VAR_047875 commonName VAR_047875 VAR_047875 disease not phenotype-associated VAR_047876 commonName VAR_047876 VAR_047876 disease not phenotype-associated VAR_047877 commonName VAR_047877 VAR_047877 disease not phenotype-associated VAR_047878 commonName VAR_047878 VAR_047878 disease not phenotype-associated VAR_047879 commonName VAR_047879 VAR_047879 disease not phenotype-associated VAR_047880 commonName VAR_047880 VAR_047880 disease not phenotype-associated VAR_047881 commonName VAR_047881 VAR_047881 disease not phenotype-associated VAR_047882 commonName VAR_047882 VAR_047882 disease not phenotype-associated VAR_047883 commonName VAR_047883 VAR_047883 disease not phenotype-associated VAR_047884 commonName VAR_047884 VAR_047884 disease not phenotype-associated VAR_047885 commonName VAR_047885 VAR_047885 disease not phenotype-associated VAR_047886 commonName VAR_047886 VAR_047886 disease not phenotype-associated VAR_047887 commonName VAR_047887 VAR_047887 disease not phenotype-associated VAR_047888 commonName VAR_047888 VAR_047888 disease not phenotype-associated VAR_047889 commonName VAR_047889 VAR_047889 disease not phenotype-associated VAR_047890 commonName VAR_047890 VAR_047890 disease not phenotype-associated VAR_047891 commonName VAR_047891 VAR_047891 disease not phenotype-associated VAR_047892 commonName VAR_047892 VAR_047892 disease not phenotype-associated VAR_047893 commonName VAR_047893 VAR_047893 disease not phenotype-associated VAR_047894 commonName VAR_047894 VAR_047894 disease not phenotype-associated VAR_047895 commonName VAR_047895 VAR_047895 disease not phenotype-associated VAR_047897 commonName VAR_047897 VAR_047897 disease not phenotype-associated VAR_047898 commonName VAR_047898 VAR_047898 disease not phenotype-associated VAR_047899 commonName VAR_047899 VAR_047899 disease not phenotype-associated VAR_047900 commonName VAR_047900 VAR_047900 disease not phenotype-associated VAR_047902 commonName VAR_047902 VAR_047902 disease not phenotype-associated VAR_047903 commonName VAR_047903 VAR_047903 disease not phenotype-associated VAR_047904 commonName VAR_047904 VAR_047904 disease not phenotype-associated VAR_047905 commonName VAR_047905 VAR_047905 disease not phenotype-associated VAR_047906 commonName VAR_047906 VAR_047906 disease not phenotype-associated VAR_047907 commonName VAR_047907 VAR_047907 disease not phenotype-associated VAR_047908 commonName VAR_047908 VAR_047908 disease not phenotype-associated VAR_047909 commonName VAR_047909 VAR_047909 disease not phenotype-associated VAR_047910 commonName VAR_047910 VAR_047910 disease not phenotype-associated VAR_047911 commonName VAR_047911 VAR_047911 disease not phenotype-associated VAR_047912 commonName VAR_047912 VAR_047912 disease not phenotype-associated VAR_047913 commonName VAR_047913 VAR_047913 disease not phenotype-associated VAR_047914 commonName VAR_047914 VAR_047914 disease not phenotype-associated VAR_047915 commonName VAR_047915 VAR_047915 disease not phenotype-associated VAR_047917 commonName VAR_047917 VAR_047917 disease not phenotype-associated VAR_047918 commonName VAR_047918 VAR_047918 disease not phenotype-associated VAR_047919 commonName VAR_047919 VAR_047919 disease not phenotype-associated VAR_047920 commonName VAR_047920 VAR_047920 disease not phenotype-associated VAR_047921 commonName VAR_047921 VAR_047921 disease not phenotype-associated VAR_047922 commonName VAR_047922 VAR_047922 disease not phenotype-associated VAR_047924 commonName VAR_047924 VAR_047924 disease not phenotype-associated VAR_047925 commonName VAR_047925 VAR_047925 disease not phenotype-associated VAR_047926 commonName VAR_047926 VAR_047926 disease not phenotype-associated VAR_047927 commonName VAR_047927 VAR_047927 disease not phenotype-associated VAR_047928 commonName VAR_047928 VAR_047928 disease not phenotype-associated VAR_047929 commonName VAR_047929 VAR_047929 disease not phenotype-associated VAR_047930 commonName VAR_047930 VAR_047930 disease not phenotype-associated VAR_047931 commonName VAR_047931 VAR_047931 disease not phenotype-associated VAR_047932 commonName VAR_047932 VAR_047932 disease not phenotype-associated VAR_047934 commonName VAR_047934 VAR_047934 disease not phenotype-associated VAR_047935 commonName VAR_047935 VAR_047935 disease not phenotype-associated VAR_047936 commonName VAR_047936 VAR_047936 disease not phenotype-associated VAR_047937 commonName VAR_047937 VAR_047937 disease not phenotype-associated VAR_047938 commonName VAR_047938 VAR_047938 disease phenotype-associated VAR_047938 phenoCommon Parkinson disease type 15 (PARK15) [MIM:260300] VAR_047940 commonName VAR_047940 VAR_047940 disease phenotype-associated VAR_047940 phenoCommon Duane retraction syndrome type 2 (DURS2) [MIM:604356] VAR_047941 commonName VAR_047941 VAR_047941 disease phenotype-associated VAR_047941 phenoCommon Duane retraction syndrome type 2 (DURS2) [MIM:604356] VAR_047942 commonName VAR_047942 VAR_047942 disease phenotype-associated VAR_047942 phenoCommon Duane retraction syndrome type 2 (DURS2) [MIM:604356] VAR_047943 commonName VAR_047943 VAR_047943 disease phenotype-associated VAR_047943 phenoCommon Duane retraction syndrome type 2 (DURS2) [MIM:604356] VAR_047944 commonName VAR_047944 VAR_047944 disease phenotype-associated VAR_047944 phenoCommon Duane retraction syndrome type 2 (DURS2) [MIM:604356] VAR_047947 commonName VAR_047947 VAR_047947 disease phenotype-associated VAR_047947 phenoCommon Charcot-Marie-Tooth disease type 4B1 (CMT4B1) [MIM:601382] VAR_047948 commonName VAR_047948 VAR_047949 commonName VAR_047949 VAR_047950 commonName VAR_047950 VAR_047951 commonName VAR_047951 VAR_047951 disease not phenotype-associated VAR_047953 commonName VAR_047953 VAR_047953 disease phenotype-associated VAR_047953 phenoCommon MYD88 deficiency (MYD88D) [MIM:612260] VAR_047954 commonName VAR_047954 VAR_047954 disease phenotype-associated VAR_047954 phenoCommon MYD88 deficiency (MYD88D) [MIM:612260] VAR_047955 commonName VAR_047955 VAR_047955 disease not phenotype-associated VAR_047956 commonName VAR_047956 VAR_047956 disease not phenotype-associated VAR_047957 commonName VAR_047957 VAR_047957 disease phenotype-associated VAR_047957 phenoCommon Childhood absence epilepsy type 5 (ECA5) [MIM:612269] VAR_047958 commonName VAR_047958 VAR_047958 disease not phenotype-associated VAR_047959 commonName VAR_047959 VAR_047960 commonName VAR_047960 VAR_047960 disease not phenotype-associated VAR_047961 commonName VAR_047961 VAR_047961 disease not phenotype-associated VAR_047962 commonName VAR_047962 VAR_047962 disease not phenotype-associated VAR_047963 commonName VAR_047963 VAR_047963 disease not phenotype-associated VAR_047964 commonName VAR_047964 VAR_047964 disease not phenotype-associated VAR_047965 commonName VAR_047965 VAR_047965 disease not phenotype-associated VAR_047967 commonName VAR_047967 VAR_047967 disease not phenotype-associated VAR_047968 commonName VAR_047968 VAR_047968 disease not phenotype-associated VAR_047969 commonName VAR_047969 VAR_047969 disease not phenotype-associated VAR_047970 commonName VAR_047970 VAR_047970 disease not phenotype-associated VAR_047971 commonName VAR_047971 VAR_047971 disease not phenotype-associated VAR_047972 commonName VAR_047972 VAR_047972 disease not phenotype-associated VAR_047975 commonName VAR_047975 VAR_047975 disease not phenotype-associated VAR_047976 commonName VAR_047976 VAR_047976 disease not phenotype-associated VAR_047977 commonName VAR_047977 VAR_047977 disease not phenotype-associated VAR_047978 commonName VAR_047978 VAR_047978 disease not phenotype-associated VAR_047979 commonName VAR_047979 VAR_047979 disease not phenotype-associated VAR_047980 commonName VAR_047980 VAR_047980 disease not phenotype-associated VAR_047981 commonName VAR_047981 VAR_047981 disease not phenotype-associated VAR_047982 commonName VAR_047982 VAR_047982 disease not phenotype-associated VAR_047983 commonName VAR_047983 VAR_047983 disease not phenotype-associated VAR_047984 commonName VAR_047984 VAR_047984 disease not phenotype-associated VAR_047985 commonName VAR_047985 VAR_047985 disease not phenotype-associated VAR_047986 commonName VAR_047986 VAR_047986 disease not phenotype-associated VAR_047987 commonName VAR_047987 VAR_047987 disease not phenotype-associated VAR_047988 commonName VAR_047988 VAR_047988 disease not phenotype-associated VAR_047989 commonName VAR_047989 VAR_047989 disease not phenotype-associated VAR_047990 commonName VAR_047990 VAR_047990 disease not phenotype-associated VAR_047991 commonName VAR_047991 VAR_047991 disease not phenotype-associated VAR_047992 commonName VAR_047992 VAR_047992 disease not phenotype-associated VAR_047993 commonName VAR_047993 VAR_047993 disease not phenotype-associated VAR_047994 commonName VAR_047994 VAR_047994 disease not phenotype-associated VAR_047995 commonName VAR_047995 VAR_047995 disease not phenotype-associated VAR_047999 commonName VAR_047999 VAR_047999 disease not phenotype-associated VAR_048000 commonName VAR_048000 VAR_048000 disease not phenotype-associated VAR_048001 commonName VAR_048001 VAR_048001 disease not phenotype-associated VAR_048002 commonName VAR_048002 VAR_048002 disease not phenotype-associated VAR_048003 commonName VAR_048003 VAR_048003 disease not phenotype-associated VAR_048005 commonName VAR_048005 VAR_048005 disease phenotype-associated VAR_048005 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] VAR_048006 commonName VAR_048006 VAR_048006 disease phenotype-associated VAR_048006 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] VAR_048007 commonName VAR_048007 VAR_048007 disease phenotype-associated VAR_048007 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] VAR_048008 commonName VAR_048008 VAR_048008 disease phenotype-associated VAR_048008 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] VAR_048009 commonName VAR_048009 VAR_048009 disease phenotype-associated VAR_048009 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] VAR_048010 commonName VAR_048010 VAR_048010 disease phenotype-associated VAR_048010 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] VAR_048011 commonName VAR_048011 VAR_048011 disease phenotype-associated VAR_048011 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] VAR_048012 commonName VAR_048012 VAR_048012 disease phenotype-associated VAR_048012 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] VAR_048013 commonName VAR_048013 VAR_048013 disease phenotype-associated VAR_048013 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] VAR_048014 commonName VAR_048014 VAR_048014 disease phenotype-associated VAR_048014 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] VAR_048015 commonName VAR_048015 VAR_048015 disease phenotype-associated VAR_048015 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] VAR_048016 commonName VAR_048016 VAR_048017 commonName VAR_048017 VAR_048017 disease phenotype-associated VAR_048017 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] VAR_048018 commonName VAR_048018 VAR_048018 disease phenotype-associated VAR_048018 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] VAR_048019 commonName VAR_048019 VAR_048019 disease phenotype-associated VAR_048019 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] VAR_048020 commonName VAR_048020 VAR_048020 disease phenotype-associated VAR_048020 phenoCommon Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240] VAR_048021 commonName VAR_048021 VAR_048021 disease phenotype-associated VAR_048021 phenoCommon Hypophosphatemic nephrolithiasis/osteoporosis type 2 (NPHLOP2) [MIM:612287] VAR_048022 commonName VAR_048022 VAR_048022 disease phenotype-associated VAR_048022 phenoCommon Hypophosphatemic nephrolithiasis/osteoporosis type 2 (NPHLOP2) [MIM:612287] VAR_048023 commonName VAR_048023 VAR_048023 disease phenotype-associated VAR_048023 phenoCommon Microtia hearing impairment and cleft palate (MHICP) [MIM:612290] VAR_048024 commonName VAR_048024 VAR_048024 disease not phenotype-associated VAR_048025 commonName VAR_048025 VAR_048025 disease phenotype-associated VAR_048025 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_048028 commonName VAR_048028 VAR_048028 disease not phenotype-associated VAR_048029 commonName VAR_048029 VAR_048029 disease not phenotype-associated VAR_048030 commonName VAR_048030 VAR_048030 disease not phenotype-associated VAR_048031 commonName VAR_048031 VAR_048031 disease not phenotype-associated VAR_048032 commonName VAR_048032 VAR_048032 disease not phenotype-associated VAR_048033 commonName VAR_048033 VAR_048033 disease not phenotype-associated VAR_048034 commonName VAR_048034 VAR_048034 disease not phenotype-associated VAR_048035 commonName VAR_048035 VAR_048035 disease not phenotype-associated VAR_048036 commonName VAR_048036 VAR_048036 disease not phenotype-associated VAR_048037 commonName VAR_048037 VAR_048037 disease not phenotype-associated VAR_048038 commonName VAR_048038 VAR_048038 disease not phenotype-associated VAR_048039 commonName VAR_048039 VAR_048039 disease not phenotype-associated VAR_048040 commonName VAR_048040 VAR_048040 disease not phenotype-associated VAR_048041 commonName VAR_048041 VAR_048041 disease not phenotype-associated VAR_048042 commonName VAR_048042 VAR_048042 disease not phenotype-associated VAR_048043 commonName VAR_048043 VAR_048043 disease not phenotype-associated VAR_048044 commonName VAR_048044 VAR_048044 disease not phenotype-associated VAR_048045 commonName VAR_048045 VAR_048045 disease not phenotype-associated VAR_048046 commonName VAR_048046 VAR_048046 disease not phenotype-associated VAR_048047 commonName VAR_048047 VAR_048047 disease not phenotype-associated VAR_048048 commonName VAR_048048 VAR_048048 disease not phenotype-associated VAR_048049 commonName VAR_048049 VAR_048049 disease not phenotype-associated VAR_048050 commonName VAR_048050 VAR_048050 disease not phenotype-associated VAR_048051 commonName VAR_048051 VAR_048051 disease not phenotype-associated VAR_048052 commonName VAR_048052 VAR_048052 disease not phenotype-associated VAR_048053 commonName VAR_048053 VAR_048053 disease not phenotype-associated VAR_048054 commonName VAR_048054 VAR_048054 disease not phenotype-associated VAR_048055 commonName VAR_048055 VAR_048055 disease not phenotype-associated VAR_048056 commonName VAR_048056 VAR_048056 disease not phenotype-associated VAR_048057 commonName VAR_048057 VAR_048057 disease not phenotype-associated VAR_048058 commonName VAR_048058 VAR_048058 disease not phenotype-associated VAR_048059 commonName VAR_048059 VAR_048059 disease not phenotype-associated VAR_048060 commonName VAR_048060 VAR_048060 disease not phenotype-associated VAR_048061 commonName VAR_048061 VAR_048061 disease not phenotype-associated VAR_048062 commonName VAR_048062 VAR_048062 disease not phenotype-associated VAR_048063 commonName VAR_048063 VAR_048063 disease not phenotype-associated VAR_048064 commonName VAR_048064 VAR_048064 disease not phenotype-associated VAR_048065 commonName VAR_048065 VAR_048065 disease not phenotype-associated VAR_048066 commonName VAR_048066 VAR_048066 disease not phenotype-associated VAR_048067 commonName VAR_048067 VAR_048067 disease not phenotype-associated VAR_048068 commonName VAR_048068 VAR_048068 disease not phenotype-associated VAR_048069 commonName VAR_048069 VAR_048069 disease not phenotype-associated VAR_048070 commonName VAR_048070 VAR_048070 disease not phenotype-associated VAR_048071 commonName VAR_048071 VAR_048071 disease not phenotype-associated VAR_048072 commonName VAR_048072 VAR_048072 disease not phenotype-associated VAR_048073 commonName VAR_048073 VAR_048073 disease not phenotype-associated VAR_048074 commonName VAR_048074 VAR_048074 disease not phenotype-associated VAR_048075 commonName VAR_048075 VAR_048075 disease not phenotype-associated VAR_048076 commonName VAR_048076 VAR_048076 disease not phenotype-associated VAR_048077 commonName VAR_048077 VAR_048077 disease not phenotype-associated VAR_048078 commonName VAR_048078 VAR_048078 disease not phenotype-associated VAR_048079 commonName VAR_048079 VAR_048079 disease not phenotype-associated VAR_048080 commonName VAR_048080 VAR_048080 disease not phenotype-associated VAR_048081 commonName VAR_048081 VAR_048081 disease not phenotype-associated VAR_048082 commonName VAR_048082 VAR_048082 disease not phenotype-associated VAR_048083 commonName VAR_048083 VAR_048083 disease not phenotype-associated VAR_048084 commonName VAR_048084 VAR_048084 disease not phenotype-associated VAR_048085 commonName VAR_048085 VAR_048085 disease not phenotype-associated VAR_048086 commonName VAR_048086 VAR_048086 disease not phenotype-associated VAR_048087 commonName VAR_048087 VAR_048087 disease not phenotype-associated VAR_048088 commonName VAR_048088 VAR_048088 disease not phenotype-associated VAR_048089 commonName VAR_048089 VAR_048089 disease not phenotype-associated VAR_048090 commonName VAR_048090 VAR_048090 disease not phenotype-associated VAR_048094 commonName VAR_048094 VAR_048094 disease not phenotype-associated VAR_048095 commonName VAR_048095 VAR_048095 disease not phenotype-associated VAR_048096 commonName VAR_048096 VAR_048096 disease not phenotype-associated VAR_048097 commonName VAR_048097 VAR_048097 disease not phenotype-associated VAR_048098 commonName VAR_048098 VAR_048098 disease not phenotype-associated VAR_048099 commonName VAR_048099 VAR_048099 disease not phenotype-associated VAR_048100 commonName VAR_048100 VAR_048100 disease not phenotype-associated VAR_048101 commonName VAR_048101 VAR_048101 disease not phenotype-associated VAR_048102 commonName VAR_048102 VAR_048102 disease not phenotype-associated VAR_048103 commonName VAR_048103 VAR_048103 disease not phenotype-associated VAR_048104 commonName VAR_048104 VAR_048104 disease not phenotype-associated VAR_048105 commonName VAR_048105 VAR_048105 disease not phenotype-associated VAR_048106 commonName VAR_048106 VAR_048106 disease not phenotype-associated VAR_048107 commonName VAR_048107 VAR_048107 disease not phenotype-associated VAR_048108 commonName VAR_048108 VAR_048108 disease not phenotype-associated VAR_048109 commonName VAR_048109 VAR_048109 disease not phenotype-associated VAR_048110 commonName VAR_048110 VAR_048110 disease not phenotype-associated VAR_048111 commonName VAR_048111 VAR_048111 disease not phenotype-associated VAR_048112 commonName VAR_048112 VAR_048112 disease not phenotype-associated VAR_048113 commonName VAR_048113 VAR_048113 disease not phenotype-associated VAR_048114 commonName VAR_048114 VAR_048114 disease not phenotype-associated VAR_048115 commonName VAR_048115 VAR_048115 disease not phenotype-associated VAR_048116 commonName VAR_048116 VAR_048116 disease not phenotype-associated VAR_048117 commonName VAR_048117 VAR_048117 disease not phenotype-associated VAR_048118 commonName VAR_048118 VAR_048118 disease not phenotype-associated VAR_048119 commonName VAR_048119 VAR_048119 disease not phenotype-associated VAR_048120 commonName VAR_048120 VAR_048120 disease not phenotype-associated VAR_048121 commonName VAR_048121 VAR_048121 disease not phenotype-associated VAR_048122 commonName VAR_048122 VAR_048122 disease not phenotype-associated VAR_048123 commonName VAR_048123 VAR_048123 disease not phenotype-associated VAR_048124 commonName VAR_048124 VAR_048124 disease not phenotype-associated VAR_048125 commonName VAR_048125 VAR_048125 disease not phenotype-associated VAR_048126 commonName VAR_048126 VAR_048126 disease not phenotype-associated VAR_048127 commonName VAR_048127 VAR_048127 disease not phenotype-associated VAR_048128 commonName VAR_048128 VAR_048128 disease not phenotype-associated VAR_048130 commonName VAR_048130 VAR_048130 disease not phenotype-associated VAR_048131 commonName VAR_048131 VAR_048131 disease not phenotype-associated VAR_048132 commonName VAR_048132 VAR_048132 disease not phenotype-associated VAR_048133 commonName VAR_048133 VAR_048133 disease not phenotype-associated VAR_048134 commonName VAR_048134 VAR_048134 disease not phenotype-associated VAR_048135 commonName VAR_048135 VAR_048135 disease not phenotype-associated VAR_048139 commonName VAR_048139 VAR_048139 disease not phenotype-associated VAR_048140 commonName VAR_048140 VAR_048140 disease not phenotype-associated VAR_048141 commonName VAR_048141 VAR_048141 disease not phenotype-associated VAR_048142 commonName VAR_048142 VAR_048142 disease not phenotype-associated VAR_048143 commonName VAR_048143 VAR_048143 disease not phenotype-associated VAR_048144 commonName VAR_048144 VAR_048144 disease not phenotype-associated VAR_048145 commonName VAR_048145 VAR_048145 disease not phenotype-associated VAR_048146 commonName VAR_048146 VAR_048146 disease not phenotype-associated VAR_048147 commonName VAR_048147 VAR_048147 disease not phenotype-associated VAR_048148 commonName VAR_048148 VAR_048148 disease not phenotype-associated VAR_048149 commonName VAR_048149 VAR_048149 disease not phenotype-associated VAR_048150 commonName VAR_048150 VAR_048150 disease not phenotype-associated VAR_048151 commonName VAR_048151 VAR_048151 disease not phenotype-associated VAR_048153 commonName VAR_048153 VAR_048153 disease not phenotype-associated VAR_048154 commonName VAR_048154 VAR_048154 disease not phenotype-associated VAR_048155 commonName VAR_048155 VAR_048155 disease not phenotype-associated VAR_048156 commonName VAR_048156 VAR_048156 disease not phenotype-associated VAR_048157 commonName VAR_048157 VAR_048157 disease not phenotype-associated VAR_048158 commonName VAR_048158 VAR_048158 disease not phenotype-associated VAR_048159 commonName VAR_048159 VAR_048159 disease not phenotype-associated VAR_048160 commonName VAR_048160 VAR_048160 disease not phenotype-associated VAR_048161 commonName VAR_048161 VAR_048161 disease not phenotype-associated VAR_048162 commonName VAR_048162 VAR_048162 disease not phenotype-associated VAR_048163 commonName VAR_048163 VAR_048163 disease not phenotype-associated VAR_048164 commonName VAR_048164 VAR_048164 disease not phenotype-associated VAR_048165 commonName VAR_048165 VAR_048165 disease not phenotype-associated VAR_048167 commonName VAR_048167 VAR_048167 disease not phenotype-associated VAR_048168 commonName VAR_048168 VAR_048168 disease not phenotype-associated VAR_048169 commonName VAR_048169 VAR_048169 disease not phenotype-associated VAR_048170 commonName VAR_048170 VAR_048170 disease not phenotype-associated VAR_048171 commonName VAR_048171 VAR_048171 disease not phenotype-associated VAR_048173 commonName VAR_048173 VAR_048173 disease not phenotype-associated VAR_048174 commonName VAR_048174 VAR_048174 disease not phenotype-associated VAR_048175 commonName VAR_048175 VAR_048175 disease not phenotype-associated VAR_048176 commonName VAR_048176 VAR_048176 disease not phenotype-associated VAR_048177 commonName VAR_048177 VAR_048177 disease not phenotype-associated VAR_048178 commonName VAR_048178 VAR_048178 disease not phenotype-associated VAR_048180 commonName VAR_048180 VAR_048180 disease not phenotype-associated VAR_048181 commonName VAR_048181 VAR_048181 disease not phenotype-associated VAR_048182 commonName VAR_048182 VAR_048182 disease not phenotype-associated VAR_048183 commonName VAR_048183 VAR_048183 disease not phenotype-associated VAR_048184 commonName VAR_048184 VAR_048184 disease not phenotype-associated VAR_048185 commonName VAR_048185 VAR_048185 disease not phenotype-associated VAR_048186 commonName VAR_048186 VAR_048186 disease not phenotype-associated VAR_048187 commonName VAR_048187 VAR_048187 disease not phenotype-associated VAR_048188 commonName VAR_048188 VAR_048188 disease not phenotype-associated VAR_048189 commonName VAR_048189 VAR_048189 disease not phenotype-associated VAR_048190 commonName VAR_048190 VAR_048190 disease not phenotype-associated VAR_048191 commonName VAR_048191 VAR_048191 disease not phenotype-associated VAR_048192 commonName VAR_048192 VAR_048192 disease not phenotype-associated VAR_048193 commonName VAR_048193 VAR_048193 disease not phenotype-associated VAR_048194 commonName VAR_048194 VAR_048194 disease not phenotype-associated VAR_048195 commonName VAR_048195 VAR_048195 disease not phenotype-associated VAR_048196 commonName VAR_048196 VAR_048196 disease not phenotype-associated VAR_048197 commonName VAR_048197 VAR_048197 disease not phenotype-associated VAR_048198 commonName VAR_048198 VAR_048198 disease not phenotype-associated VAR_048200 commonName VAR_048200 VAR_048200 disease not phenotype-associated VAR_048201 commonName VAR_048201 VAR_048201 disease not phenotype-associated VAR_048203 commonName VAR_048203 VAR_048203 disease not phenotype-associated VAR_048204 commonName VAR_048204 VAR_048204 disease not phenotype-associated VAR_048205 commonName VAR_048205 VAR_048205 disease not phenotype-associated VAR_048206 commonName VAR_048206 VAR_048206 disease not phenotype-associated VAR_048207 commonName VAR_048207 VAR_048207 disease not phenotype-associated VAR_048208 commonName VAR_048208 VAR_048208 disease not phenotype-associated VAR_048209 commonName VAR_048209 VAR_048209 disease not phenotype-associated VAR_048210 commonName VAR_048210 VAR_048210 disease not phenotype-associated VAR_048212 commonName VAR_048212 VAR_048212 disease not phenotype-associated VAR_048213 commonName VAR_048213 VAR_048213 disease not phenotype-associated VAR_048214 commonName VAR_048214 VAR_048214 disease not phenotype-associated VAR_048215 commonName VAR_048215 VAR_048215 disease not phenotype-associated VAR_048216 commonName VAR_048216 VAR_048216 disease not phenotype-associated VAR_048217 commonName VAR_048217 VAR_048217 disease not phenotype-associated VAR_048218 commonName VAR_048218 VAR_048218 disease not phenotype-associated VAR_048219 commonName VAR_048219 VAR_048219 disease not phenotype-associated VAR_048220 commonName VAR_048220 VAR_048220 disease not phenotype-associated VAR_048221 commonName VAR_048221 VAR_048221 disease not phenotype-associated VAR_048222 commonName VAR_048222 VAR_048222 disease not phenotype-associated VAR_048223 commonName VAR_048223 VAR_048223 disease not phenotype-associated VAR_048224 commonName VAR_048224 VAR_048224 disease not phenotype-associated VAR_048225 commonName VAR_048225 VAR_048225 disease not phenotype-associated VAR_048226 commonName VAR_048226 VAR_048226 disease not phenotype-associated VAR_048227 commonName VAR_048227 VAR_048227 disease not phenotype-associated VAR_048228 commonName VAR_048228 VAR_048228 disease not phenotype-associated VAR_048229 commonName VAR_048229 VAR_048229 disease not phenotype-associated VAR_048230 commonName VAR_048230 VAR_048230 disease not phenotype-associated VAR_048231 commonName VAR_048231 VAR_048231 disease not phenotype-associated VAR_048232 commonName VAR_048232 VAR_048232 disease not phenotype-associated VAR_048233 commonName VAR_048233 VAR_048233 disease not phenotype-associated VAR_048234 commonName VAR_048234 VAR_048234 disease not phenotype-associated VAR_048235 commonName VAR_048235 VAR_048235 disease not phenotype-associated VAR_048236 commonName VAR_048236 VAR_048236 disease not phenotype-associated VAR_048238 commonName VAR_048238 VAR_048238 disease not phenotype-associated VAR_048239 commonName VAR_048239 VAR_048239 disease not phenotype-associated VAR_048240 commonName VAR_048240 VAR_048240 disease not phenotype-associated VAR_048241 commonName VAR_048241 VAR_048241 disease not phenotype-associated VAR_048242 commonName VAR_048242 VAR_048242 disease not phenotype-associated VAR_048243 commonName VAR_048243 VAR_048243 disease not phenotype-associated VAR_048244 commonName VAR_048244 VAR_048244 disease not phenotype-associated VAR_048245 commonName VAR_048245 VAR_048245 disease not phenotype-associated VAR_048246 commonName VAR_048246 VAR_048246 disease not phenotype-associated VAR_048247 commonName VAR_048247 VAR_048247 disease not phenotype-associated VAR_048248 commonName VAR_048248 VAR_048248 disease not phenotype-associated VAR_048249 commonName VAR_048249 VAR_048249 disease not phenotype-associated VAR_048250 commonName VAR_048250 VAR_048250 disease not phenotype-associated VAR_048251 commonName VAR_048251 VAR_048251 disease not phenotype-associated VAR_048252 commonName VAR_048252 VAR_048252 disease not phenotype-associated VAR_048253 commonName VAR_048253 VAR_048253 disease not phenotype-associated VAR_048254 commonName VAR_048254 VAR_048254 disease not phenotype-associated VAR_048255 commonName VAR_048255 VAR_048255 disease not phenotype-associated VAR_048256 commonName VAR_048256 VAR_048256 disease not phenotype-associated VAR_048257 commonName VAR_048257 VAR_048257 disease not phenotype-associated VAR_048258 commonName VAR_048258 VAR_048258 disease not phenotype-associated VAR_048259 commonName VAR_048259 VAR_048259 disease not phenotype-associated VAR_048260 commonName VAR_048260 VAR_048260 disease not phenotype-associated VAR_048261 commonName VAR_048261 VAR_048261 disease not phenotype-associated VAR_048262 commonName VAR_048262 VAR_048262 disease not phenotype-associated VAR_048263 commonName VAR_048263 VAR_048263 disease not phenotype-associated VAR_048264 commonName VAR_048264 VAR_048264 disease not phenotype-associated VAR_048265 commonName VAR_048265 VAR_048265 disease not phenotype-associated VAR_048266 commonName VAR_048266 VAR_048266 disease not phenotype-associated VAR_048267 commonName VAR_048267 VAR_048267 disease not phenotype-associated VAR_048268 commonName VAR_048268 VAR_048268 disease not phenotype-associated VAR_048271 commonName VAR_048271 VAR_048271 disease not phenotype-associated VAR_048272 commonName VAR_048272 VAR_048272 disease not phenotype-associated VAR_048273 commonName VAR_048273 VAR_048273 disease not phenotype-associated VAR_048274 commonName VAR_048274 VAR_048274 disease not phenotype-associated VAR_048276 commonName VAR_048276 VAR_048276 disease not phenotype-associated VAR_048277 commonName VAR_048277 VAR_048277 disease not phenotype-associated VAR_048278 commonName VAR_048278 VAR_048278 disease not phenotype-associated VAR_048279 commonName VAR_048279 VAR_048279 disease not phenotype-associated VAR_048280 commonName VAR_048280 VAR_048280 disease not phenotype-associated VAR_048281 commonName VAR_048281 VAR_048281 disease not phenotype-associated VAR_048282 commonName VAR_048282 VAR_048282 disease not phenotype-associated VAR_048283 commonName VAR_048283 VAR_048283 disease not phenotype-associated VAR_048285 commonName VAR_048285 VAR_048285 disease not phenotype-associated VAR_048286 commonName VAR_048286 VAR_048286 disease not phenotype-associated VAR_048287 commonName VAR_048287 VAR_048287 disease not phenotype-associated VAR_048288 commonName VAR_048288 VAR_048288 disease not phenotype-associated VAR_048289 commonName VAR_048289 VAR_048289 disease not phenotype-associated VAR_048290 commonName VAR_048290 VAR_048290 disease not phenotype-associated VAR_048294 commonName VAR_048294 VAR_048294 disease not phenotype-associated VAR_048295 commonName VAR_048295 VAR_048295 disease not phenotype-associated VAR_048296 commonName VAR_048296 VAR_048296 disease not phenotype-associated VAR_048297 commonName VAR_048297 VAR_048297 disease not phenotype-associated VAR_048298 commonName VAR_048298 VAR_048298 disease not phenotype-associated VAR_048299 commonName VAR_048299 VAR_048299 disease not phenotype-associated VAR_048300 commonName VAR_048300 VAR_048300 disease not phenotype-associated VAR_048301 commonName VAR_048301 VAR_048301 disease not phenotype-associated VAR_048304 commonName VAR_048304 VAR_048304 disease not phenotype-associated VAR_048305 commonName VAR_048305 VAR_048305 disease not phenotype-associated VAR_048306 commonName VAR_048306 VAR_048306 disease not phenotype-associated VAR_048307 commonName VAR_048307 VAR_048307 disease not phenotype-associated VAR_048308 commonName VAR_048308 VAR_048308 disease not phenotype-associated VAR_048309 commonName VAR_048309 VAR_048309 disease not phenotype-associated VAR_048310 commonName VAR_048310 VAR_048310 disease not phenotype-associated VAR_048311 commonName VAR_048311 VAR_048311 disease not phenotype-associated VAR_048312 commonName VAR_048312 VAR_048312 disease not phenotype-associated VAR_048313 commonName VAR_048313 VAR_048313 disease not phenotype-associated VAR_048314 commonName VAR_048314 VAR_048314 disease not phenotype-associated VAR_048316 commonName VAR_048316 VAR_048316 disease not phenotype-associated VAR_048317 commonName VAR_048317 VAR_048317 disease not phenotype-associated VAR_048318 commonName VAR_048318 VAR_048318 disease not phenotype-associated VAR_048320 commonName VAR_048320 VAR_048320 disease not phenotype-associated VAR_048321 commonName VAR_048321 VAR_048321 disease not phenotype-associated VAR_048322 commonName VAR_048322 VAR_048322 disease not phenotype-associated VAR_048324 commonName VAR_048324 VAR_048324 disease not phenotype-associated VAR_048326 commonName VAR_048326 VAR_048326 disease not phenotype-associated VAR_048328 commonName VAR_048328 VAR_048328 disease not phenotype-associated VAR_048329 commonName VAR_048329 VAR_048329 disease not phenotype-associated VAR_048330 commonName VAR_048330 VAR_048330 disease not phenotype-associated VAR_048331 commonName VAR_048331 VAR_048331 disease not phenotype-associated VAR_048332 commonName VAR_048332 VAR_048332 disease not phenotype-associated VAR_048334 commonName VAR_048334 VAR_048334 disease not phenotype-associated VAR_048335 commonName VAR_048335 VAR_048335 disease not phenotype-associated VAR_048336 commonName VAR_048336 VAR_048336 disease not phenotype-associated VAR_048338 commonName VAR_048338 VAR_048338 disease not phenotype-associated VAR_048339 commonName VAR_048339 VAR_048339 disease not phenotype-associated VAR_048341 commonName VAR_048341 VAR_048341 disease not phenotype-associated VAR_048342 commonName VAR_048342 VAR_048342 disease not phenotype-associated VAR_048343 commonName VAR_048343 VAR_048343 disease not phenotype-associated VAR_048344 commonName VAR_048344 VAR_048344 disease not phenotype-associated VAR_048345 commonName VAR_048345 VAR_048345 disease not phenotype-associated VAR_048346 commonName VAR_048346 VAR_048346 disease not phenotype-associated VAR_048347 commonName VAR_048347 VAR_048347 disease not phenotype-associated VAR_048348 commonName VAR_048348 VAR_048348 disease not phenotype-associated VAR_048349 commonName VAR_048349 VAR_048349 disease not phenotype-associated VAR_048350 commonName VAR_048350 VAR_048350 disease not phenotype-associated VAR_048351 commonName VAR_048351 VAR_048351 disease not phenotype-associated VAR_048352 commonName VAR_048352 VAR_048352 disease not phenotype-associated VAR_048353 commonName VAR_048353 VAR_048353 disease not phenotype-associated VAR_048354 commonName VAR_048354 VAR_048354 disease not phenotype-associated VAR_048355 commonName VAR_048355 VAR_048355 disease not phenotype-associated VAR_048356 commonName VAR_048356 VAR_048356 disease not phenotype-associated VAR_048357 commonName VAR_048357 VAR_048357 disease not phenotype-associated VAR_048358 commonName VAR_048358 VAR_048358 disease not phenotype-associated VAR_048359 commonName VAR_048359 VAR_048359 disease not phenotype-associated VAR_048360 commonName VAR_048360 VAR_048360 disease not phenotype-associated VAR_048361 commonName VAR_048361 VAR_048361 disease not phenotype-associated VAR_048362 commonName VAR_048362 VAR_048362 disease not phenotype-associated VAR_048363 commonName VAR_048363 VAR_048363 disease not phenotype-associated VAR_048364 commonName VAR_048364 VAR_048364 disease not phenotype-associated VAR_048365 commonName VAR_048365 VAR_048365 disease not phenotype-associated VAR_048366 commonName VAR_048366 VAR_048366 disease not phenotype-associated VAR_048367 commonName VAR_048367 VAR_048367 disease not phenotype-associated VAR_048368 commonName VAR_048368 VAR_048368 disease not phenotype-associated VAR_048369 commonName VAR_048369 VAR_048369 disease not phenotype-associated VAR_048370 commonName VAR_048370 VAR_048370 disease not phenotype-associated VAR_048371 commonName VAR_048371 VAR_048371 disease not phenotype-associated VAR_048372 commonName VAR_048372 VAR_048372 disease not phenotype-associated VAR_048373 commonName VAR_048373 VAR_048373 disease not phenotype-associated VAR_048374 commonName VAR_048374 VAR_048374 disease not phenotype-associated VAR_048375 commonName VAR_048375 VAR_048375 disease not phenotype-associated VAR_048376 commonName VAR_048376 VAR_048376 disease not phenotype-associated VAR_048379 commonName VAR_048379 VAR_048379 disease not phenotype-associated VAR_048380 commonName VAR_048380 VAR_048380 disease not phenotype-associated VAR_048381 commonName VAR_048381 VAR_048381 disease not phenotype-associated VAR_048382 commonName VAR_048382 VAR_048382 disease not phenotype-associated VAR_048383 commonName VAR_048383 VAR_048383 disease not phenotype-associated VAR_048384 commonName VAR_048384 VAR_048384 disease not phenotype-associated VAR_048385 commonName VAR_048385 VAR_048385 disease not phenotype-associated VAR_048386 commonName VAR_048386 VAR_048386 disease not phenotype-associated VAR_048387 commonName VAR_048387 VAR_048387 disease not phenotype-associated VAR_048388 commonName VAR_048388 VAR_048388 disease not phenotype-associated VAR_048389 commonName VAR_048389 VAR_048389 disease not phenotype-associated VAR_048390 commonName VAR_048390 VAR_048390 disease not phenotype-associated VAR_048391 commonName VAR_048391 VAR_048391 disease not phenotype-associated VAR_048392 commonName VAR_048392 VAR_048392 disease not phenotype-associated VAR_048393 commonName VAR_048393 VAR_048393 disease not phenotype-associated VAR_048394 commonName VAR_048394 VAR_048394 disease not phenotype-associated VAR_048395 commonName VAR_048395 VAR_048395 disease not phenotype-associated VAR_048396 commonName VAR_048396 VAR_048396 disease not phenotype-associated VAR_048397 commonName VAR_048397 VAR_048397 disease not phenotype-associated VAR_048398 commonName VAR_048398 VAR_048398 disease not phenotype-associated VAR_048399 commonName VAR_048399 VAR_048399 disease not phenotype-associated VAR_048400 commonName VAR_048400 VAR_048400 disease not phenotype-associated VAR_048401 commonName VAR_048401 VAR_048401 disease not phenotype-associated VAR_048402 commonName VAR_048402 VAR_048402 disease not phenotype-associated VAR_048403 commonName VAR_048403 VAR_048403 disease not phenotype-associated VAR_048404 commonName VAR_048404 VAR_048404 disease not phenotype-associated VAR_048405 commonName VAR_048405 VAR_048405 disease not phenotype-associated VAR_048406 commonName VAR_048406 VAR_048406 disease not phenotype-associated VAR_048407 commonName VAR_048407 VAR_048407 disease not phenotype-associated VAR_048408 commonName VAR_048408 VAR_048408 disease not phenotype-associated VAR_048409 commonName VAR_048409 VAR_048409 disease not phenotype-associated VAR_048411 commonName VAR_048411 VAR_048411 disease not phenotype-associated VAR_048412 commonName VAR_048412 VAR_048412 disease not phenotype-associated VAR_048413 commonName VAR_048413 VAR_048413 disease not phenotype-associated VAR_048414 commonName VAR_048414 VAR_048414 disease not phenotype-associated VAR_048416 commonName VAR_048416 VAR_048416 disease not phenotype-associated VAR_048417 commonName VAR_048417 VAR_048417 disease not phenotype-associated VAR_048418 commonName VAR_048418 VAR_048418 disease not phenotype-associated VAR_048419 commonName VAR_048419 VAR_048419 disease not phenotype-associated VAR_048420 commonName VAR_048420 VAR_048420 disease not phenotype-associated VAR_048421 commonName VAR_048421 VAR_048421 disease not phenotype-associated VAR_048422 commonName VAR_048422 VAR_048422 disease not phenotype-associated VAR_048423 commonName VAR_048423 VAR_048423 disease not phenotype-associated VAR_048424 commonName VAR_048424 VAR_048424 disease not phenotype-associated VAR_048425 commonName VAR_048425 VAR_048425 disease not phenotype-associated VAR_048426 commonName VAR_048426 VAR_048426 disease not phenotype-associated VAR_048427 commonName VAR_048427 VAR_048427 disease not phenotype-associated VAR_048428 commonName VAR_048428 VAR_048428 disease not phenotype-associated VAR_048429 commonName VAR_048429 VAR_048429 disease not phenotype-associated VAR_048430 commonName VAR_048430 VAR_048430 disease not phenotype-associated VAR_048431 commonName VAR_048431 VAR_048431 disease not phenotype-associated VAR_048433 commonName VAR_048433 VAR_048433 disease not phenotype-associated VAR_048434 commonName VAR_048434 VAR_048434 disease not phenotype-associated VAR_048435 commonName VAR_048435 VAR_048435 disease not phenotype-associated VAR_048436 commonName VAR_048436 VAR_048436 disease not phenotype-associated VAR_048437 commonName VAR_048437 VAR_048437 disease not phenotype-associated VAR_048438 commonName VAR_048438 VAR_048438 disease not phenotype-associated VAR_048439 commonName VAR_048439 VAR_048439 disease not phenotype-associated VAR_048440 commonName VAR_048440 VAR_048440 disease not phenotype-associated VAR_048441 commonName VAR_048441 VAR_048441 disease not phenotype-associated VAR_048442 commonName VAR_048442 VAR_048442 disease not phenotype-associated VAR_048443 commonName VAR_048443 VAR_048443 disease not phenotype-associated VAR_048444 commonName VAR_048444 VAR_048444 disease not phenotype-associated VAR_048445 commonName VAR_048445 VAR_048445 disease not phenotype-associated VAR_048446 commonName VAR_048446 VAR_048446 disease not phenotype-associated VAR_048447 commonName VAR_048447 VAR_048447 disease not phenotype-associated VAR_048448 commonName VAR_048448 VAR_048448 disease not phenotype-associated VAR_048449 commonName VAR_048449 VAR_048449 disease not phenotype-associated VAR_048450 commonName VAR_048450 VAR_048450 disease not phenotype-associated VAR_048451 commonName VAR_048451 VAR_048451 disease not phenotype-associated VAR_048452 commonName VAR_048452 VAR_048452 disease not phenotype-associated VAR_048453 commonName VAR_048453 VAR_048453 disease not phenotype-associated VAR_048454 commonName VAR_048454 VAR_048454 disease not phenotype-associated VAR_048457 commonName VAR_048457 VAR_048457 disease not phenotype-associated VAR_048458 commonName VAR_048458 VAR_048458 disease not phenotype-associated VAR_048459 commonName VAR_048459 VAR_048459 disease not phenotype-associated VAR_048460 commonName VAR_048460 VAR_048460 disease not phenotype-associated VAR_048461 commonName VAR_048461 VAR_048461 disease not phenotype-associated VAR_048462 commonName VAR_048462 VAR_048462 disease not phenotype-associated VAR_048463 commonName VAR_048463 VAR_048463 disease not phenotype-associated VAR_048464 commonName VAR_048464 VAR_048464 disease not phenotype-associated VAR_048465 commonName VAR_048465 VAR_048465 disease not phenotype-associated VAR_048466 commonName VAR_048466 VAR_048466 disease phenotype-associated VAR_048466 phenoCommon Hypercalcemia infantile (HCAI) [MIM:143880] VAR_048467 commonName VAR_048467 VAR_048467 disease not phenotype-associated VAR_048468 commonName VAR_048468 VAR_048468 disease not phenotype-associated VAR_048469 commonName VAR_048469 VAR_048469 disease not phenotype-associated VAR_048470 commonName VAR_048470 VAR_048470 disease not phenotype-associated VAR_048471 commonName VAR_048471 VAR_048471 disease not phenotype-associated VAR_048472 commonName VAR_048472 VAR_048472 disease not phenotype-associated VAR_048473 commonName VAR_048473 VAR_048473 disease not phenotype-associated VAR_048474 commonName VAR_048474 VAR_048474 disease not phenotype-associated VAR_048475 commonName VAR_048475 VAR_048475 disease not phenotype-associated VAR_048476 commonName VAR_048476 VAR_048476 disease not phenotype-associated VAR_048477 commonName VAR_048477 VAR_048477 disease not phenotype-associated VAR_048478 commonName VAR_048478 VAR_048478 disease not phenotype-associated VAR_048479 commonName VAR_048479 VAR_048479 disease not phenotype-associated VAR_048480 commonName VAR_048480 VAR_048480 disease not phenotype-associated VAR_048481 commonName VAR_048481 VAR_048481 disease not phenotype-associated VAR_048482 commonName VAR_048482 VAR_048482 disease not phenotype-associated VAR_048483 commonName VAR_048483 VAR_048483 disease not phenotype-associated VAR_048484 commonName VAR_048484 VAR_048484 disease not phenotype-associated VAR_048485 commonName VAR_048485 VAR_048485 disease not phenotype-associated VAR_048486 commonName VAR_048486 VAR_048486 disease not phenotype-associated VAR_048487 commonName VAR_048487 VAR_048487 disease not phenotype-associated VAR_048488 commonName VAR_048488 VAR_048488 disease not phenotype-associated VAR_048489 commonName VAR_048489 VAR_048489 disease not phenotype-associated VAR_048490 commonName VAR_048490 VAR_048490 disease not phenotype-associated VAR_048491 commonName VAR_048491 VAR_048491 disease not phenotype-associated VAR_048492 commonName VAR_048492 VAR_048492 disease not phenotype-associated VAR_048493 commonName VAR_048493 VAR_048493 disease not phenotype-associated VAR_048494 commonName VAR_048494 VAR_048494 disease not phenotype-associated VAR_048495 commonName VAR_048495 VAR_048495 disease not phenotype-associated VAR_048496 commonName VAR_048496 VAR_048496 disease not phenotype-associated VAR_048497 commonName VAR_048497 VAR_048497 disease not phenotype-associated VAR_048498 commonName VAR_048498 VAR_048498 disease not phenotype-associated VAR_048499 commonName VAR_048499 VAR_048499 disease not phenotype-associated VAR_048500 commonName VAR_048500 VAR_048500 disease not phenotype-associated VAR_048501 commonName VAR_048501 VAR_048501 disease not phenotype-associated VAR_048502 commonName VAR_048502 VAR_048502 disease not phenotype-associated VAR_048503 commonName VAR_048503 VAR_048503 disease not phenotype-associated VAR_048504 commonName VAR_048504 VAR_048504 disease not phenotype-associated VAR_048505 commonName VAR_048505 VAR_048505 disease not phenotype-associated VAR_048506 commonName VAR_048506 VAR_048506 disease not phenotype-associated VAR_048507 commonName VAR_048507 VAR_048507 disease not phenotype-associated VAR_048508 commonName VAR_048508 VAR_048508 disease not phenotype-associated VAR_048509 commonName VAR_048509 VAR_048509 disease not phenotype-associated VAR_048510 commonName VAR_048510 VAR_048510 disease not phenotype-associated VAR_048511 commonName VAR_048511 VAR_048511 disease not phenotype-associated VAR_048512 commonName VAR_048512 VAR_048512 disease not phenotype-associated VAR_048513 commonName VAR_048513 VAR_048513 disease not phenotype-associated VAR_048514 commonName VAR_048514 VAR_048514 disease not phenotype-associated VAR_048515 commonName VAR_048515 VAR_048515 disease not phenotype-associated VAR_048516 commonName VAR_048516 VAR_048516 disease not phenotype-associated VAR_048517 commonName VAR_048517 VAR_048517 disease not phenotype-associated VAR_048518 commonName VAR_048518 VAR_048518 disease not phenotype-associated VAR_048519 commonName VAR_048519 VAR_048519 disease not phenotype-associated VAR_048520 commonName VAR_048520 VAR_048520 disease not phenotype-associated VAR_048521 commonName VAR_048521 VAR_048521 disease not phenotype-associated VAR_048522 commonName VAR_048522 VAR_048522 disease not phenotype-associated VAR_048523 commonName VAR_048523 VAR_048523 disease not phenotype-associated VAR_048524 commonName VAR_048524 VAR_048524 disease not phenotype-associated VAR_048525 commonName VAR_048525 VAR_048525 disease not phenotype-associated VAR_048526 commonName VAR_048526 VAR_048526 disease not phenotype-associated VAR_048527 commonName VAR_048527 VAR_048527 disease not phenotype-associated VAR_048528 commonName VAR_048528 VAR_048528 disease not phenotype-associated VAR_048529 commonName VAR_048529 VAR_048529 disease not phenotype-associated VAR_048530 commonName VAR_048530 VAR_048530 disease not phenotype-associated VAR_048531 commonName VAR_048531 VAR_048531 disease not phenotype-associated VAR_048532 commonName VAR_048532 VAR_048532 disease not phenotype-associated VAR_048533 commonName VAR_048533 VAR_048533 disease not phenotype-associated VAR_048534 commonName VAR_048534 VAR_048534 disease not phenotype-associated VAR_048535 commonName VAR_048535 VAR_048535 disease not phenotype-associated VAR_048536 commonName VAR_048536 VAR_048536 disease not phenotype-associated VAR_048537 commonName VAR_048537 VAR_048537 disease not phenotype-associated VAR_048538 commonName VAR_048538 VAR_048538 disease not phenotype-associated VAR_048539 commonName VAR_048539 VAR_048539 disease not phenotype-associated VAR_048540 commonName VAR_048540 VAR_048540 disease not phenotype-associated VAR_048541 commonName VAR_048541 VAR_048541 disease not phenotype-associated VAR_048542 commonName VAR_048542 VAR_048542 disease not phenotype-associated VAR_048543 commonName VAR_048543 VAR_048543 disease not phenotype-associated VAR_048544 commonName VAR_048544 VAR_048544 disease not phenotype-associated VAR_048545 commonName VAR_048545 VAR_048545 disease not phenotype-associated VAR_048546 commonName VAR_048546 VAR_048546 disease not phenotype-associated VAR_048547 commonName VAR_048547 VAR_048547 disease not phenotype-associated VAR_048548 commonName VAR_048548 VAR_048548 disease not phenotype-associated VAR_048549 commonName VAR_048549 VAR_048549 disease not phenotype-associated VAR_048550 commonName VAR_048550 VAR_048550 disease not phenotype-associated VAR_048551 commonName VAR_048551 VAR_048551 disease not phenotype-associated VAR_048552 commonName VAR_048552 VAR_048552 disease not phenotype-associated VAR_048553 commonName VAR_048553 VAR_048553 disease not phenotype-associated VAR_048555 commonName VAR_048555 VAR_048555 disease not phenotype-associated VAR_048556 commonName VAR_048556 VAR_048556 disease not phenotype-associated VAR_048557 commonName VAR_048557 VAR_048557 disease not phenotype-associated VAR_048558 commonName VAR_048558 VAR_048558 disease not phenotype-associated VAR_048559 commonName VAR_048559 VAR_048559 disease not phenotype-associated VAR_048560 commonName VAR_048560 VAR_048560 disease not phenotype-associated VAR_048561 commonName VAR_048561 VAR_048561 disease not phenotype-associated VAR_048562 commonName VAR_048562 VAR_048562 disease not phenotype-associated VAR_048563 commonName VAR_048563 VAR_048563 disease not phenotype-associated VAR_048564 commonName VAR_048564 VAR_048564 disease not phenotype-associated VAR_048565 commonName VAR_048565 VAR_048565 disease not phenotype-associated VAR_048566 commonName VAR_048566 VAR_048566 disease not phenotype-associated VAR_048567 commonName VAR_048567 VAR_048567 disease not phenotype-associated VAR_048568 commonName VAR_048568 VAR_048568 disease not phenotype-associated VAR_048569 commonName VAR_048569 VAR_048569 disease not phenotype-associated VAR_048570 commonName VAR_048570 VAR_048570 disease not phenotype-associated VAR_048571 commonName VAR_048571 VAR_048571 disease not phenotype-associated VAR_048572 commonName VAR_048572 VAR_048572 disease not phenotype-associated VAR_048573 commonName VAR_048573 VAR_048573 disease not phenotype-associated VAR_048574 commonName VAR_048574 VAR_048574 disease not phenotype-associated VAR_048575 commonName VAR_048575 VAR_048575 disease not phenotype-associated VAR_048576 commonName VAR_048576 VAR_048576 disease not phenotype-associated VAR_048577 commonName VAR_048577 VAR_048577 disease not phenotype-associated VAR_048578 commonName VAR_048578 VAR_048578 disease not phenotype-associated VAR_048579 commonName VAR_048579 VAR_048579 disease not phenotype-associated VAR_048580 commonName VAR_048580 VAR_048580 disease not phenotype-associated VAR_048581 commonName VAR_048581 VAR_048581 disease not phenotype-associated VAR_048582 commonName VAR_048582 VAR_048582 disease not phenotype-associated VAR_048583 commonName VAR_048583 VAR_048583 disease not phenotype-associated VAR_048584 commonName VAR_048584 VAR_048584 disease not phenotype-associated VAR_048585 commonName VAR_048585 VAR_048585 disease not phenotype-associated VAR_048586 commonName VAR_048586 VAR_048586 disease not phenotype-associated VAR_048587 commonName VAR_048587 VAR_048587 disease not phenotype-associated VAR_048588 commonName VAR_048588 VAR_048588 disease not phenotype-associated VAR_048589 commonName VAR_048589 VAR_048589 disease not phenotype-associated VAR_048590 commonName VAR_048590 VAR_048590 disease not phenotype-associated VAR_048591 commonName VAR_048591 VAR_048591 disease not phenotype-associated VAR_048592 commonName VAR_048592 VAR_048592 disease not phenotype-associated VAR_048593 commonName VAR_048593 VAR_048593 disease not phenotype-associated VAR_048594 commonName VAR_048594 VAR_048594 disease not phenotype-associated VAR_048595 commonName VAR_048595 VAR_048595 disease not phenotype-associated VAR_048596 commonName VAR_048596 VAR_048596 disease not phenotype-associated VAR_048597 commonName VAR_048597 VAR_048597 disease not phenotype-associated VAR_048598 commonName VAR_048598 VAR_048598 disease not phenotype-associated VAR_048599 commonName VAR_048599 VAR_048599 disease not phenotype-associated VAR_048600 commonName VAR_048600 VAR_048600 disease not phenotype-associated VAR_048601 commonName VAR_048601 VAR_048601 disease not phenotype-associated VAR_048602 commonName VAR_048602 VAR_048602 disease not phenotype-associated VAR_048603 commonName VAR_048603 VAR_048603 disease not phenotype-associated VAR_048604 commonName VAR_048604 VAR_048604 disease not phenotype-associated VAR_048605 commonName VAR_048605 VAR_048605 disease not phenotype-associated VAR_048606 commonName VAR_048606 VAR_048606 disease not phenotype-associated VAR_048607 commonName VAR_048607 VAR_048607 disease not phenotype-associated VAR_048608 commonName VAR_048608 VAR_048608 disease not phenotype-associated VAR_048609 commonName VAR_048609 VAR_048609 disease not phenotype-associated VAR_048610 commonName VAR_048610 VAR_048610 disease not phenotype-associated VAR_048611 commonName VAR_048611 VAR_048611 disease not phenotype-associated VAR_048612 commonName VAR_048612 VAR_048612 disease not phenotype-associated VAR_048613 commonName VAR_048613 VAR_048613 disease not phenotype-associated VAR_048614 commonName VAR_048614 VAR_048614 disease not phenotype-associated VAR_048615 commonName VAR_048615 VAR_048615 disease not phenotype-associated VAR_048616 commonName VAR_048616 VAR_048616 disease not phenotype-associated VAR_048617 commonName VAR_048617 VAR_048617 disease not phenotype-associated VAR_048618 commonName VAR_048618 VAR_048618 disease not phenotype-associated VAR_048619 commonName VAR_048619 VAR_048619 disease not phenotype-associated VAR_048620 commonName VAR_048620 VAR_048620 disease not phenotype-associated VAR_048621 commonName VAR_048621 VAR_048621 disease not phenotype-associated VAR_048622 commonName VAR_048622 VAR_048622 disease not phenotype-associated VAR_048623 commonName VAR_048623 VAR_048623 disease not phenotype-associated VAR_048624 commonName VAR_048624 VAR_048624 disease not phenotype-associated VAR_048631 commonName VAR_048631 VAR_048631 disease not phenotype-associated VAR_048632 commonName VAR_048632 VAR_048632 disease not phenotype-associated VAR_048633 commonName VAR_048633 VAR_048633 disease not phenotype-associated VAR_048634 commonName VAR_048634 VAR_048634 disease not phenotype-associated VAR_048635 commonName VAR_048635 VAR_048635 disease not phenotype-associated VAR_048636 commonName VAR_048636 VAR_048636 disease not phenotype-associated VAR_048637 commonName VAR_048637 VAR_048637 disease not phenotype-associated VAR_048638 commonName VAR_048638 VAR_048638 disease not phenotype-associated VAR_048639 commonName VAR_048639 VAR_048639 disease not phenotype-associated VAR_048640 commonName VAR_048640 VAR_048640 disease not phenotype-associated VAR_048643 commonName VAR_048643 VAR_048643 disease not phenotype-associated VAR_048644 commonName VAR_048644 VAR_048644 disease not phenotype-associated VAR_048645 commonName VAR_048645 VAR_048645 disease not phenotype-associated VAR_048646 commonName VAR_048646 VAR_048646 disease not phenotype-associated VAR_048647 commonName VAR_048647 VAR_048647 disease not phenotype-associated VAR_048648 commonName VAR_048648 VAR_048648 disease not phenotype-associated VAR_048649 commonName VAR_048649 VAR_048649 disease not phenotype-associated VAR_048650 commonName VAR_048650 VAR_048650 disease not phenotype-associated VAR_048651 commonName VAR_048651 VAR_048651 disease not phenotype-associated VAR_048652 commonName VAR_048652 VAR_048652 disease not phenotype-associated VAR_048653 commonName VAR_048653 VAR_048653 disease not phenotype-associated VAR_048654 commonName VAR_048654 VAR_048654 disease not phenotype-associated VAR_048655 commonName VAR_048655 VAR_048655 disease not phenotype-associated VAR_048656 commonName VAR_048656 VAR_048656 disease not phenotype-associated VAR_048657 commonName VAR_048657 VAR_048657 disease not phenotype-associated VAR_048659 commonName VAR_048659 VAR_048659 disease not phenotype-associated VAR_048660 commonName VAR_048660 VAR_048660 disease not phenotype-associated VAR_048661 commonName VAR_048661 VAR_048661 disease not phenotype-associated VAR_048662 commonName VAR_048662 VAR_048662 disease not phenotype-associated VAR_048663 commonName VAR_048663 VAR_048663 disease not phenotype-associated VAR_048664 commonName VAR_048664 VAR_048664 disease not phenotype-associated VAR_048666 commonName VAR_048666 VAR_048666 disease not phenotype-associated VAR_048667 commonName VAR_048667 VAR_048667 disease not phenotype-associated VAR_048668 commonName VAR_048668 VAR_048668 disease not phenotype-associated VAR_048669 commonName VAR_048669 VAR_048669 disease not phenotype-associated VAR_048670 commonName VAR_048670 VAR_048670 disease not phenotype-associated VAR_048671 commonName VAR_048671 VAR_048671 disease not phenotype-associated VAR_048672 commonName VAR_048672 VAR_048672 disease not phenotype-associated VAR_048673 commonName VAR_048673 VAR_048673 disease not phenotype-associated VAR_048674 commonName VAR_048674 VAR_048674 disease not phenotype-associated VAR_048677 commonName VAR_048677 VAR_048677 disease not phenotype-associated VAR_048678 commonName VAR_048678 VAR_048678 disease not phenotype-associated VAR_048679 commonName VAR_048679 VAR_048679 disease not phenotype-associated VAR_048680 commonName VAR_048680 VAR_048680 disease not phenotype-associated VAR_048681 commonName VAR_048681 VAR_048681 disease not phenotype-associated VAR_048682 commonName VAR_048682 VAR_048682 disease not phenotype-associated VAR_048683 commonName VAR_048683 VAR_048683 disease not phenotype-associated VAR_048684 commonName VAR_048684 VAR_048684 disease not phenotype-associated VAR_048685 commonName VAR_048685 VAR_048685 disease not phenotype-associated VAR_048686 commonName VAR_048686 VAR_048686 disease not phenotype-associated VAR_048687 commonName VAR_048687 VAR_048687 disease not phenotype-associated VAR_048689 commonName VAR_048689 VAR_048689 disease not phenotype-associated VAR_048690 commonName VAR_048690 VAR_048690 disease not phenotype-associated VAR_048691 commonName VAR_048691 VAR_048691 disease not phenotype-associated VAR_048692 commonName VAR_048692 VAR_048692 disease not phenotype-associated VAR_048693 commonName VAR_048693 VAR_048693 disease not phenotype-associated VAR_048694 commonName VAR_048694 VAR_048694 disease not phenotype-associated VAR_048695 commonName VAR_048695 VAR_048695 disease not phenotype-associated VAR_048696 commonName VAR_048696 VAR_048696 disease not phenotype-associated VAR_048697 commonName VAR_048697 VAR_048697 disease not phenotype-associated VAR_048698 commonName VAR_048698 VAR_048698 disease not phenotype-associated VAR_048699 commonName VAR_048699 VAR_048699 disease not phenotype-associated VAR_048700 commonName VAR_048700 VAR_048700 disease not phenotype-associated VAR_048701 commonName VAR_048701 VAR_048701 disease not phenotype-associated VAR_048702 commonName VAR_048702 VAR_048702 disease not phenotype-associated VAR_048703 commonName VAR_048703 VAR_048703 disease not phenotype-associated VAR_048704 commonName VAR_048704 VAR_048704 disease not phenotype-associated VAR_048705 commonName VAR_048705 VAR_048705 disease not phenotype-associated VAR_048706 commonName VAR_048706 VAR_048706 disease not phenotype-associated VAR_048707 commonName VAR_048707 VAR_048707 disease not phenotype-associated VAR_048708 commonName VAR_048708 VAR_048708 disease not phenotype-associated VAR_048709 commonName VAR_048709 VAR_048709 disease not phenotype-associated VAR_048710 commonName VAR_048710 VAR_048710 disease not phenotype-associated VAR_048711 commonName VAR_048711 VAR_048711 disease not phenotype-associated VAR_048712 commonName VAR_048712 VAR_048712 disease not phenotype-associated VAR_048713 commonName VAR_048713 VAR_048713 disease not phenotype-associated VAR_048714 commonName VAR_048714 VAR_048714 disease not phenotype-associated VAR_048715 commonName VAR_048715 VAR_048715 disease not phenotype-associated VAR_048716 commonName VAR_048716 VAR_048716 disease not phenotype-associated VAR_048719 commonName VAR_048719 VAR_048719 disease not phenotype-associated VAR_048721 commonName VAR_048721 VAR_048721 disease not phenotype-associated VAR_048722 commonName VAR_048722 VAR_048722 disease not phenotype-associated VAR_048723 commonName VAR_048723 VAR_048723 disease not phenotype-associated VAR_048724 commonName VAR_048724 VAR_048724 disease not phenotype-associated VAR_048725 commonName VAR_048725 VAR_048725 disease not phenotype-associated VAR_048726 commonName VAR_048726 VAR_048726 disease not phenotype-associated VAR_048727 commonName VAR_048727 VAR_048727 disease not phenotype-associated VAR_048728 commonName VAR_048728 VAR_048728 disease not phenotype-associated VAR_048729 commonName VAR_048729 VAR_048729 disease not phenotype-associated VAR_048730 commonName VAR_048730 VAR_048730 disease not phenotype-associated VAR_048731 commonName VAR_048731 VAR_048731 disease not phenotype-associated VAR_048732 commonName VAR_048732 VAR_048732 disease not phenotype-associated VAR_048733 commonName VAR_048733 VAR_048733 disease not phenotype-associated VAR_048736 commonName VAR_048736 VAR_048736 disease not phenotype-associated VAR_048737 commonName VAR_048737 VAR_048737 disease not phenotype-associated VAR_048738 commonName VAR_048738 VAR_048738 disease not phenotype-associated VAR_048739 commonName VAR_048739 VAR_048739 disease not phenotype-associated VAR_048740 commonName VAR_048740 VAR_048740 disease not phenotype-associated VAR_048741 commonName VAR_048741 VAR_048741 disease not phenotype-associated VAR_048742 commonName VAR_048742 VAR_048742 disease not phenotype-associated VAR_048743 commonName VAR_048743 VAR_048743 disease not phenotype-associated VAR_048745 commonName VAR_048745 VAR_048745 disease not phenotype-associated VAR_048746 commonName VAR_048746 VAR_048746 disease not phenotype-associated VAR_048747 commonName VAR_048747 VAR_048747 disease not phenotype-associated VAR_048748 commonName VAR_048748 VAR_048748 disease not phenotype-associated VAR_048749 commonName VAR_048749 VAR_048749 disease not phenotype-associated VAR_048750 commonName VAR_048750 VAR_048750 disease not phenotype-associated VAR_048751 commonName VAR_048751 VAR_048751 disease not phenotype-associated VAR_048752 commonName VAR_048752 VAR_048752 disease not phenotype-associated VAR_048753 commonName VAR_048753 VAR_048753 disease not phenotype-associated VAR_048754 commonName VAR_048754 VAR_048754 disease not phenotype-associated VAR_048755 commonName VAR_048755 VAR_048755 disease not phenotype-associated VAR_048756 commonName VAR_048756 VAR_048756 disease not phenotype-associated VAR_048757 commonName VAR_048757 VAR_048757 disease not phenotype-associated VAR_048758 commonName VAR_048758 VAR_048758 disease not phenotype-associated VAR_048759 commonName VAR_048759 VAR_048759 disease not phenotype-associated VAR_048760 commonName VAR_048760 VAR_048760 disease not phenotype-associated VAR_048761 commonName VAR_048761 VAR_048761 disease not phenotype-associated VAR_048762 commonName VAR_048762 VAR_048762 disease not phenotype-associated VAR_048763 commonName VAR_048763 VAR_048763 disease not phenotype-associated VAR_048764 commonName VAR_048764 VAR_048764 disease not phenotype-associated VAR_048765 commonName VAR_048765 VAR_048765 disease not phenotype-associated VAR_048766 commonName VAR_048766 VAR_048766 disease not phenotype-associated VAR_048767 commonName VAR_048767 VAR_048767 disease not phenotype-associated VAR_048768 commonName VAR_048768 VAR_048768 disease not phenotype-associated VAR_048769 commonName VAR_048769 VAR_048769 disease not phenotype-associated VAR_048770 commonName VAR_048770 VAR_048770 disease not phenotype-associated VAR_048771 commonName VAR_048771 VAR_048771 disease not phenotype-associated VAR_048772 commonName VAR_048772 VAR_048772 disease not phenotype-associated VAR_048773 commonName VAR_048773 VAR_048773 disease not phenotype-associated VAR_048774 commonName VAR_048774 VAR_048774 disease not phenotype-associated VAR_048775 commonName VAR_048775 VAR_048775 disease not phenotype-associated VAR_048776 commonName VAR_048776 VAR_048776 disease not phenotype-associated VAR_048777 commonName VAR_048777 VAR_048777 disease not phenotype-associated VAR_048778 commonName VAR_048778 VAR_048778 disease not phenotype-associated VAR_048779 commonName VAR_048779 VAR_048779 disease not phenotype-associated VAR_048780 commonName VAR_048780 VAR_048780 disease not phenotype-associated VAR_048781 commonName VAR_048781 VAR_048781 disease not phenotype-associated VAR_048782 commonName VAR_048782 VAR_048782 disease not phenotype-associated VAR_048783 commonName VAR_048783 VAR_048783 disease not phenotype-associated VAR_048784 commonName VAR_048784 VAR_048784 disease not phenotype-associated VAR_048785 commonName VAR_048785 VAR_048785 disease not phenotype-associated VAR_048786 commonName VAR_048786 VAR_048786 disease not phenotype-associated VAR_048787 commonName VAR_048787 VAR_048787 disease not phenotype-associated VAR_048788 commonName VAR_048788 VAR_048788 disease not phenotype-associated VAR_048789 commonName VAR_048789 VAR_048789 disease not phenotype-associated VAR_048790 commonName VAR_048790 VAR_048790 disease not phenotype-associated VAR_048791 commonName VAR_048791 VAR_048791 disease not phenotype-associated VAR_048792 commonName VAR_048792 VAR_048792 disease not phenotype-associated VAR_048793 commonName VAR_048793 VAR_048793 disease not phenotype-associated VAR_048794 commonName VAR_048794 VAR_048794 disease not phenotype-associated VAR_048795 commonName VAR_048795 VAR_048795 disease not phenotype-associated VAR_048796 commonName VAR_048796 VAR_048796 disease not phenotype-associated VAR_048797 commonName VAR_048797 VAR_048797 disease not phenotype-associated VAR_048799 commonName VAR_048799 VAR_048799 disease not phenotype-associated VAR_048800 commonName VAR_048800 VAR_048800 disease not phenotype-associated VAR_048801 commonName VAR_048801 VAR_048801 disease not phenotype-associated VAR_048802 commonName VAR_048802 VAR_048802 disease not phenotype-associated VAR_048803 commonName VAR_048803 VAR_048803 disease not phenotype-associated VAR_048808 commonName VAR_048808 VAR_048808 disease not phenotype-associated VAR_048809 commonName VAR_048809 VAR_048809 disease not phenotype-associated VAR_048810 commonName VAR_048810 VAR_048810 disease not phenotype-associated VAR_048811 commonName VAR_048811 VAR_048811 disease not phenotype-associated VAR_048812 commonName VAR_048812 VAR_048812 disease not phenotype-associated VAR_048813 commonName VAR_048813 VAR_048813 disease not phenotype-associated VAR_048814 commonName VAR_048814 VAR_048814 disease not phenotype-associated VAR_048815 commonName VAR_048815 VAR_048815 disease not phenotype-associated VAR_048817 commonName VAR_048817 VAR_048817 disease not phenotype-associated VAR_048818 commonName VAR_048818 VAR_048818 disease not phenotype-associated VAR_048819 commonName VAR_048819 VAR_048819 disease not phenotype-associated VAR_048820 commonName VAR_048820 VAR_048820 disease not phenotype-associated VAR_048821 commonName VAR_048821 VAR_048821 disease not phenotype-associated VAR_048822 commonName VAR_048822 VAR_048822 disease not phenotype-associated VAR_048825 commonName VAR_048825 VAR_048825 disease not phenotype-associated VAR_048827 commonName VAR_048827 VAR_048827 disease not phenotype-associated VAR_048828 commonName VAR_048828 VAR_048828 disease not phenotype-associated VAR_048829 commonName VAR_048829 VAR_048829 disease not phenotype-associated VAR_048830 commonName VAR_048830 VAR_048830 disease not phenotype-associated VAR_048831 commonName VAR_048831 VAR_048831 disease not phenotype-associated VAR_048832 commonName VAR_048832 VAR_048832 disease not phenotype-associated VAR_048833 commonName VAR_048833 VAR_048833 disease not phenotype-associated VAR_048834 commonName VAR_048834 VAR_048834 disease not phenotype-associated VAR_048837 commonName VAR_048837 VAR_048837 disease not phenotype-associated VAR_048838 commonName VAR_048838 VAR_048838 disease not phenotype-associated VAR_048839 commonName VAR_048839 VAR_048839 disease not phenotype-associated VAR_048841 commonName VAR_048841 VAR_048841 disease not phenotype-associated VAR_048842 commonName VAR_048842 VAR_048842 disease not phenotype-associated VAR_048848 commonName VAR_048848 VAR_048848 disease not phenotype-associated VAR_048849 commonName VAR_048849 VAR_048849 disease not phenotype-associated VAR_048850 commonName VAR_048850 VAR_048850 disease not phenotype-associated VAR_048851 commonName VAR_048851 VAR_048851 disease not phenotype-associated VAR_048852 commonName VAR_048852 VAR_048852 disease not phenotype-associated VAR_048853 commonName VAR_048853 VAR_048853 disease not phenotype-associated VAR_048854 commonName VAR_048854 VAR_048854 disease not phenotype-associated VAR_048855 commonName VAR_048855 VAR_048855 disease not phenotype-associated VAR_048856 commonName VAR_048856 VAR_048856 disease not phenotype-associated VAR_048857 commonName VAR_048857 VAR_048857 disease not phenotype-associated VAR_048858 commonName VAR_048858 VAR_048858 disease not phenotype-associated VAR_048859 commonName VAR_048859 VAR_048859 disease not phenotype-associated VAR_048861 commonName VAR_048861 VAR_048861 disease not phenotype-associated VAR_048862 commonName VAR_048862 VAR_048862 disease not phenotype-associated VAR_048863 commonName VAR_048863 VAR_048863 disease not phenotype-associated VAR_048864 commonName VAR_048864 VAR_048864 disease not phenotype-associated VAR_048865 commonName VAR_048865 VAR_048865 disease not phenotype-associated VAR_048866 commonName VAR_048866 VAR_048866 disease not phenotype-associated VAR_048867 commonName VAR_048867 VAR_048867 disease not phenotype-associated VAR_048868 commonName VAR_048868 VAR_048868 disease not phenotype-associated VAR_048869 commonName VAR_048869 VAR_048869 disease not phenotype-associated VAR_048870 commonName VAR_048870 VAR_048870 disease not phenotype-associated VAR_048871 commonName VAR_048871 VAR_048871 disease not phenotype-associated VAR_048872 commonName VAR_048872 VAR_048872 disease not phenotype-associated VAR_048873 commonName VAR_048873 VAR_048873 disease not phenotype-associated VAR_048875 commonName VAR_048875 VAR_048875 disease not phenotype-associated VAR_048876 commonName VAR_048876 VAR_048876 disease not phenotype-associated VAR_048877 commonName VAR_048877 VAR_048877 disease not phenotype-associated VAR_048878 commonName VAR_048878 VAR_048878 disease not phenotype-associated VAR_048879 commonName VAR_048879 VAR_048879 disease not phenotype-associated VAR_048880 commonName VAR_048880 VAR_048880 disease not phenotype-associated VAR_048881 commonName VAR_048881 VAR_048881 disease not phenotype-associated VAR_048882 commonName VAR_048882 VAR_048882 disease not phenotype-associated VAR_048883 commonName VAR_048883 VAR_048883 disease not phenotype-associated VAR_048884 commonName VAR_048884 VAR_048884 disease not phenotype-associated VAR_048885 commonName VAR_048885 VAR_048885 disease not phenotype-associated VAR_048886 commonName VAR_048886 VAR_048886 disease not phenotype-associated VAR_048887 commonName VAR_048887 VAR_048887 disease not phenotype-associated VAR_048888 commonName VAR_048888 VAR_048888 disease not phenotype-associated VAR_048889 commonName VAR_048889 VAR_048889 disease not phenotype-associated VAR_048890 commonName VAR_048890 VAR_048890 disease not phenotype-associated VAR_048892 commonName VAR_048892 VAR_048892 disease not phenotype-associated VAR_048893 commonName VAR_048893 VAR_048893 disease not phenotype-associated VAR_048894 commonName VAR_048894 VAR_048894 disease not phenotype-associated VAR_048895 commonName VAR_048895 VAR_048895 disease not phenotype-associated VAR_048897 commonName VAR_048897 VAR_048897 disease not phenotype-associated VAR_048898 commonName VAR_048898 VAR_048898 disease not phenotype-associated VAR_048899 commonName VAR_048899 VAR_048899 disease not phenotype-associated VAR_048900 commonName VAR_048900 VAR_048900 disease not phenotype-associated VAR_048901 commonName VAR_048901 VAR_048901 disease not phenotype-associated VAR_048902 commonName VAR_048902 VAR_048902 disease not phenotype-associated VAR_048903 commonName VAR_048903 VAR_048903 disease not phenotype-associated VAR_048904 commonName VAR_048904 VAR_048904 disease not phenotype-associated VAR_048905 commonName VAR_048905 VAR_048905 disease not phenotype-associated VAR_048906 commonName VAR_048906 VAR_048906 disease not phenotype-associated VAR_048907 commonName VAR_048907 VAR_048907 disease not phenotype-associated VAR_048908 commonName VAR_048908 VAR_048908 disease not phenotype-associated VAR_048909 commonName VAR_048909 VAR_048909 disease not phenotype-associated VAR_048910 commonName VAR_048910 VAR_048910 disease not phenotype-associated VAR_048911 commonName VAR_048911 VAR_048911 disease not phenotype-associated VAR_048912 commonName VAR_048912 VAR_048912 disease not phenotype-associated VAR_048913 commonName VAR_048913 VAR_048913 disease not phenotype-associated VAR_048914 commonName VAR_048914 VAR_048914 disease not phenotype-associated VAR_048915 commonName VAR_048915 VAR_048915 disease not phenotype-associated VAR_048916 commonName VAR_048916 VAR_048916 disease not phenotype-associated VAR_048917 commonName VAR_048917 VAR_048917 disease not phenotype-associated VAR_048918 commonName VAR_048918 VAR_048918 disease not phenotype-associated VAR_048919 commonName VAR_048919 VAR_048919 disease not phenotype-associated VAR_048920 commonName VAR_048920 VAR_048920 disease not phenotype-associated VAR_048921 commonName VAR_048921 VAR_048921 disease not phenotype-associated VAR_048922 commonName VAR_048922 VAR_048922 disease not phenotype-associated VAR_048923 commonName VAR_048923 VAR_048923 disease not phenotype-associated VAR_048924 commonName VAR_048924 VAR_048924 disease not phenotype-associated VAR_048925 commonName VAR_048925 VAR_048925 disease not phenotype-associated VAR_048926 commonName VAR_048926 VAR_048926 disease not phenotype-associated VAR_048927 commonName VAR_048927 VAR_048927 disease not phenotype-associated VAR_048929 commonName VAR_048929 VAR_048929 disease not phenotype-associated VAR_048930 commonName VAR_048930 VAR_048930 disease not phenotype-associated VAR_048931 commonName VAR_048931 VAR_048931 disease not phenotype-associated VAR_048932 commonName VAR_048932 VAR_048932 disease not phenotype-associated VAR_048934 commonName VAR_048934 VAR_048934 disease not phenotype-associated VAR_048935 commonName VAR_048935 VAR_048935 disease not phenotype-associated VAR_048936 commonName VAR_048936 VAR_048936 disease not phenotype-associated VAR_048937 commonName VAR_048937 VAR_048937 disease not phenotype-associated VAR_048938 commonName VAR_048938 VAR_048938 disease not phenotype-associated VAR_048939 commonName VAR_048939 VAR_048939 disease not phenotype-associated VAR_048940 commonName VAR_048940 VAR_048940 disease not phenotype-associated VAR_048941 commonName VAR_048941 VAR_048941 disease not phenotype-associated VAR_048942 commonName VAR_048942 VAR_048942 disease not phenotype-associated VAR_048943 commonName VAR_048943 VAR_048943 disease not phenotype-associated VAR_048944 commonName VAR_048944 VAR_048944 disease not phenotype-associated VAR_048945 commonName VAR_048945 VAR_048945 disease not phenotype-associated VAR_048946 commonName VAR_048946 VAR_048946 disease not phenotype-associated VAR_048947 commonName VAR_048947 VAR_048947 disease not phenotype-associated VAR_048948 commonName VAR_048948 VAR_048948 disease not phenotype-associated VAR_048949 commonName VAR_048949 VAR_048949 disease not phenotype-associated VAR_048950 commonName VAR_048950 VAR_048950 disease not phenotype-associated VAR_048951 commonName VAR_048951 VAR_048951 disease not phenotype-associated VAR_048952 commonName VAR_048952 VAR_048952 disease not phenotype-associated VAR_048955 commonName VAR_048955 VAR_048955 disease not phenotype-associated VAR_048956 commonName VAR_048956 VAR_048956 disease not phenotype-associated VAR_048957 commonName VAR_048957 VAR_048957 disease not phenotype-associated VAR_048958 commonName VAR_048958 VAR_048958 disease not phenotype-associated VAR_048959 commonName VAR_048959 VAR_048959 disease not phenotype-associated VAR_048960 commonName VAR_048960 VAR_048960 disease not phenotype-associated VAR_048961 commonName VAR_048961 VAR_048961 disease not phenotype-associated VAR_048962 commonName VAR_048962 VAR_048962 disease not phenotype-associated VAR_048963 commonName VAR_048963 VAR_048963 disease not phenotype-associated VAR_048964 commonName VAR_048964 VAR_048964 disease not phenotype-associated VAR_048965 commonName VAR_048965 VAR_048965 disease not phenotype-associated VAR_048966 commonName VAR_048966 VAR_048966 disease not phenotype-associated VAR_048967 commonName VAR_048967 VAR_048967 disease not phenotype-associated VAR_048968 commonName VAR_048968 VAR_048968 disease not phenotype-associated VAR_048969 commonName VAR_048969 VAR_048969 disease not phenotype-associated VAR_048970 commonName VAR_048970 VAR_048970 disease not phenotype-associated VAR_048971 commonName VAR_048971 VAR_048971 disease not phenotype-associated VAR_048972 commonName VAR_048972 VAR_048972 disease not phenotype-associated VAR_048973 commonName VAR_048973 VAR_048973 disease not phenotype-associated VAR_048974 commonName VAR_048974 VAR_048974 disease not phenotype-associated VAR_048975 commonName VAR_048975 VAR_048975 disease not phenotype-associated VAR_048976 commonName VAR_048976 VAR_048976 disease not phenotype-associated VAR_048977 commonName VAR_048977 VAR_048977 disease not phenotype-associated VAR_048978 commonName VAR_048978 VAR_048978 disease not phenotype-associated VAR_048981 commonName VAR_048981 VAR_048981 disease not phenotype-associated VAR_048982 commonName VAR_048982 VAR_048982 disease not phenotype-associated VAR_048984 commonName VAR_048984 VAR_048984 disease not phenotype-associated VAR_048985 commonName VAR_048985 VAR_048985 disease not phenotype-associated VAR_048986 commonName VAR_048986 VAR_048986 disease not phenotype-associated VAR_048987 commonName VAR_048987 VAR_048987 disease not phenotype-associated VAR_048988 commonName VAR_048988 VAR_048988 disease not phenotype-associated VAR_048990 commonName VAR_048990 VAR_048990 disease not phenotype-associated VAR_048994 commonName VAR_048994 VAR_048994 disease not phenotype-associated VAR_048995 commonName VAR_048995 VAR_048995 disease not phenotype-associated VAR_048996 commonName VAR_048996 VAR_048996 disease not phenotype-associated VAR_048997 commonName VAR_048997 VAR_048997 disease not phenotype-associated VAR_048998 commonName VAR_048998 VAR_048998 disease not phenotype-associated HbVar.683 ethnic French West Indies VAR_048999 commonName VAR_048999 VAR_048999 disease not phenotype-associated VAR_049000 commonName VAR_049000 VAR_049000 disease not phenotype-associated VAR_049001 commonName VAR_049001 VAR_049001 disease not phenotype-associated VAR_049002 commonName VAR_049002 VAR_049002 disease not phenotype-associated VAR_049003 commonName VAR_049003 VAR_049003 disease not phenotype-associated VAR_049004 commonName VAR_049004 VAR_049004 disease not phenotype-associated VAR_049005 commonName VAR_049005 VAR_049005 disease not phenotype-associated VAR_049006 commonName VAR_049006 VAR_049006 disease not phenotype-associated VAR_049007 commonName VAR_049007 VAR_049007 disease not phenotype-associated VAR_049008 commonName VAR_049008 VAR_049008 disease not phenotype-associated VAR_049009 commonName VAR_049009 VAR_049009 disease not phenotype-associated VAR_049010 commonName VAR_049010 VAR_049010 disease not phenotype-associated VAR_049011 commonName VAR_049011 VAR_049011 disease not phenotype-associated VAR_049012 commonName VAR_049012 VAR_049012 disease not phenotype-associated VAR_049013 commonName VAR_049013 VAR_049013 disease not phenotype-associated VAR_049014 commonName VAR_049014 VAR_049014 disease not phenotype-associated VAR_049015 commonName VAR_049015 VAR_049015 disease not phenotype-associated VAR_049016 commonName VAR_049016 VAR_049016 disease not phenotype-associated VAR_049017 commonName VAR_049017 VAR_049017 disease not phenotype-associated VAR_049018 commonName VAR_049018 VAR_049018 disease not phenotype-associated VAR_049019 commonName VAR_049019 VAR_049019 disease not phenotype-associated VAR_049020 commonName VAR_049020 VAR_049020 disease not phenotype-associated VAR_049021 commonName VAR_049021 VAR_049021 disease not phenotype-associated VAR_049022 commonName VAR_049022 VAR_049022 disease not phenotype-associated VAR_049023 commonName VAR_049023 VAR_049023 disease not phenotype-associated VAR_049024 commonName VAR_049024 VAR_049024 disease not phenotype-associated VAR_049025 commonName VAR_049025 VAR_049025 disease not phenotype-associated VAR_049026 commonName VAR_049026 VAR_049026 disease not phenotype-associated VAR_049027 commonName VAR_049027 VAR_049027 disease not phenotype-associated VAR_049028 commonName VAR_049028 VAR_049028 disease not phenotype-associated VAR_049029 commonName VAR_049029 VAR_049029 disease not phenotype-associated VAR_049030 commonName VAR_049030 VAR_049030 disease not phenotype-associated VAR_049031 commonName VAR_049031 VAR_049031 disease not phenotype-associated VAR_049032 commonName VAR_049032 VAR_049032 disease not phenotype-associated VAR_049033 commonName VAR_049033 VAR_049033 disease not phenotype-associated VAR_049036 commonName VAR_049036 VAR_049036 disease not phenotype-associated VAR_049037 commonName VAR_049037 VAR_049037 disease not phenotype-associated VAR_049038 commonName VAR_049038 VAR_049038 disease not phenotype-associated VAR_049039 commonName VAR_049039 VAR_049039 disease not phenotype-associated VAR_049041 commonName VAR_049041 VAR_049041 disease not phenotype-associated VAR_049042 commonName VAR_049042 VAR_049042 disease not phenotype-associated VAR_049043 commonName VAR_049043 VAR_049043 disease not phenotype-associated VAR_049044 commonName VAR_049044 VAR_049044 disease not phenotype-associated VAR_049045 commonName VAR_049045 VAR_049045 disease not phenotype-associated VAR_049046 commonName VAR_049046 VAR_049046 disease not phenotype-associated VAR_049047 commonName VAR_049047 VAR_049047 disease not phenotype-associated VAR_049048 commonName VAR_049048 VAR_049048 disease not phenotype-associated VAR_049049 commonName VAR_049049 VAR_049049 disease not phenotype-associated VAR_049050 commonName VAR_049050 VAR_049050 disease not phenotype-associated VAR_049051 commonName VAR_049051 VAR_049051 disease not phenotype-associated VAR_049052 commonName VAR_049052 VAR_049052 disease not phenotype-associated VAR_049053 commonName VAR_049053 VAR_049053 disease not phenotype-associated VAR_049054 commonName VAR_049054 VAR_049054 disease not phenotype-associated VAR_049055 commonName VAR_049055 VAR_049055 disease not phenotype-associated VAR_049056 commonName VAR_049056 VAR_049056 disease not phenotype-associated VAR_049057 commonName VAR_049057 VAR_049057 disease not phenotype-associated VAR_049058 commonName VAR_049058 VAR_049058 disease not phenotype-associated VAR_049059 commonName VAR_049059 VAR_049059 disease not phenotype-associated VAR_049060 commonName VAR_049060 VAR_049060 disease not phenotype-associated VAR_049061 commonName VAR_049061 VAR_049061 disease not phenotype-associated VAR_049063 commonName VAR_049063 VAR_049063 disease not phenotype-associated VAR_049064 commonName VAR_049064 VAR_049064 disease not phenotype-associated VAR_049065 commonName VAR_049065 VAR_049065 disease not phenotype-associated VAR_049066 commonName VAR_049066 VAR_049066 disease not phenotype-associated VAR_049067 commonName VAR_049067 VAR_049067 disease not phenotype-associated VAR_049068 commonName VAR_049068 VAR_049068 disease not phenotype-associated VAR_049069 commonName VAR_049069 VAR_049069 disease not phenotype-associated VAR_049070 commonName VAR_049070 VAR_049070 disease not phenotype-associated VAR_049071 commonName VAR_049071 VAR_049071 disease not phenotype-associated VAR_049072 commonName VAR_049072 VAR_049072 disease not phenotype-associated VAR_049073 commonName VAR_049073 VAR_049073 disease not phenotype-associated VAR_049074 commonName VAR_049074 VAR_049074 disease not phenotype-associated VAR_049075 commonName VAR_049075 VAR_049075 disease not phenotype-associated VAR_049076 commonName VAR_049076 VAR_049076 disease not phenotype-associated VAR_049077 commonName VAR_049077 VAR_049077 disease not phenotype-associated VAR_049078 commonName VAR_049078 VAR_049078 disease not phenotype-associated VAR_049079 commonName VAR_049079 VAR_049079 disease not phenotype-associated VAR_049080 commonName VAR_049080 VAR_049080 disease not phenotype-associated VAR_049081 commonName VAR_049081 VAR_049081 disease not phenotype-associated VAR_049087 commonName VAR_049087 VAR_049087 disease not phenotype-associated VAR_049088 commonName VAR_049088 VAR_049088 disease not phenotype-associated VAR_049089 commonName VAR_049089 VAR_049089 disease not phenotype-associated VAR_049090 commonName VAR_049090 VAR_049090 disease not phenotype-associated VAR_049091 commonName VAR_049091 VAR_049091 disease not phenotype-associated VAR_049092 commonName VAR_049092 VAR_049092 disease not phenotype-associated VAR_049093 commonName VAR_049093 VAR_049093 disease not phenotype-associated VAR_049094 commonName VAR_049094 VAR_049094 disease not phenotype-associated VAR_049095 commonName VAR_049095 VAR_049095 disease not phenotype-associated VAR_049096 commonName VAR_049096 VAR_049096 disease not phenotype-associated VAR_049097 commonName VAR_049097 VAR_049097 disease not phenotype-associated VAR_049098 commonName VAR_049098 VAR_049098 disease not phenotype-associated VAR_049099 commonName VAR_049099 VAR_049099 disease not phenotype-associated VAR_049100 commonName VAR_049100 VAR_049100 disease not phenotype-associated VAR_049101 commonName VAR_049101 VAR_049101 disease not phenotype-associated VAR_049102 commonName VAR_049102 VAR_049102 disease not phenotype-associated VAR_049103 commonName VAR_049103 VAR_049103 disease not phenotype-associated VAR_049105 commonName VAR_049105 VAR_049105 disease not phenotype-associated VAR_049106 commonName VAR_049106 VAR_049106 disease not phenotype-associated VAR_049107 commonName VAR_049107 VAR_049107 disease not phenotype-associated VAR_049108 commonName VAR_049108 VAR_049108 disease not phenotype-associated VAR_049109 commonName VAR_049109 VAR_049109 disease not phenotype-associated VAR_049110 commonName VAR_049110 VAR_049110 disease not phenotype-associated VAR_049111 commonName VAR_049111 VAR_049111 disease not phenotype-associated VAR_049112 commonName VAR_049112 VAR_049112 disease not phenotype-associated VAR_049113 commonName VAR_049113 VAR_049113 disease not phenotype-associated VAR_049114 commonName VAR_049114 VAR_049114 disease not phenotype-associated VAR_049115 commonName VAR_049115 VAR_049115 disease not phenotype-associated VAR_049117 commonName VAR_049117 VAR_049117 disease not phenotype-associated VAR_049118 commonName VAR_049118 VAR_049118 disease not phenotype-associated VAR_049119 commonName VAR_049119 VAR_049119 disease not phenotype-associated VAR_049120 commonName VAR_049120 VAR_049120 disease not phenotype-associated VAR_049121 commonName VAR_049121 VAR_049121 disease not phenotype-associated VAR_049122 commonName VAR_049122 VAR_049122 disease not phenotype-associated VAR_049123 commonName VAR_049123 VAR_049123 disease not phenotype-associated VAR_049124 commonName VAR_049124 VAR_049124 disease not phenotype-associated VAR_049125 commonName VAR_049125 VAR_049125 disease not phenotype-associated VAR_049126 commonName VAR_049126 VAR_049126 disease not phenotype-associated VAR_049127 commonName VAR_049127 VAR_049127 disease not phenotype-associated VAR_049128 commonName VAR_049128 VAR_049128 disease not phenotype-associated VAR_049129 commonName VAR_049129 VAR_049129 disease not phenotype-associated VAR_049130 commonName VAR_049130 VAR_049130 disease not phenotype-associated VAR_049131 commonName VAR_049131 VAR_049131 disease not phenotype-associated VAR_049132 commonName VAR_049132 VAR_049132 disease not phenotype-associated VAR_049133 commonName VAR_049133 VAR_049133 disease not phenotype-associated VAR_049134 commonName VAR_049134 VAR_049134 disease not phenotype-associated VAR_049135 commonName VAR_049135 VAR_049135 disease not phenotype-associated VAR_049137 commonName VAR_049137 VAR_049137 disease not phenotype-associated VAR_049138 commonName VAR_049138 VAR_049138 disease not phenotype-associated VAR_049139 commonName VAR_049139 VAR_049139 disease not phenotype-associated VAR_049140 commonName VAR_049140 VAR_049140 disease not phenotype-associated VAR_049141 commonName VAR_049141 VAR_049141 disease not phenotype-associated VAR_049145 commonName VAR_049145 VAR_049145 disease not phenotype-associated VAR_049146 commonName VAR_049146 VAR_049146 disease not phenotype-associated VAR_049147 commonName VAR_049147 VAR_049147 disease not phenotype-associated VAR_049148 commonName VAR_049148 HbVar.683 phenoCommon Hemoglobin variant VAR_049148 disease not phenotype-associated VAR_049149 commonName VAR_049149 VAR_049149 disease not phenotype-associated VAR_049150 commonName VAR_049150 VAR_049150 disease not phenotype-associated VAR_049151 commonName VAR_049151 VAR_049151 disease not phenotype-associated VAR_049152 commonName VAR_049152 VAR_049152 disease not phenotype-associated VAR_049153 commonName VAR_049153 VAR_049153 disease not phenotype-associated VAR_049154 commonName VAR_049154 VAR_049154 disease not phenotype-associated VAR_049155 commonName VAR_049155 VAR_049155 disease not phenotype-associated VAR_049156 commonName VAR_049156 VAR_049156 disease not phenotype-associated VAR_049157 commonName VAR_049157 VAR_049157 disease not phenotype-associated VAR_049158 commonName VAR_049158 VAR_049158 disease not phenotype-associated VAR_049159 commonName VAR_049159 VAR_049159 disease not phenotype-associated VAR_049160 commonName VAR_049160 VAR_049160 disease not phenotype-associated VAR_049161 commonName VAR_049161 VAR_049161 disease not phenotype-associated VAR_049162 commonName VAR_049162 VAR_049162 disease not phenotype-associated VAR_049163 commonName VAR_049163 VAR_049163 disease not phenotype-associated VAR_049164 commonName VAR_049164 VAR_049164 disease not phenotype-associated VAR_049165 commonName VAR_049165 VAR_049165 disease not phenotype-associated VAR_049167 commonName VAR_049167 VAR_049167 disease not phenotype-associated VAR_049168 commonName VAR_049168 VAR_049168 disease not phenotype-associated VAR_049169 commonName VAR_049169 VAR_049169 disease not phenotype-associated VAR_049170 commonName VAR_049170 VAR_049170 disease not phenotype-associated VAR_049171 commonName VAR_049171 VAR_049171 disease not phenotype-associated VAR_049172 commonName VAR_049172 VAR_049172 disease not phenotype-associated VAR_049173 commonName VAR_049173 VAR_049173 disease not phenotype-associated VAR_049174 commonName VAR_049174 VAR_049174 disease not phenotype-associated VAR_049175 commonName VAR_049175 VAR_049175 disease not phenotype-associated VAR_049176 commonName VAR_049176 VAR_049176 disease not phenotype-associated VAR_049177 commonName VAR_049177 VAR_049177 disease not phenotype-associated VAR_049178 commonName VAR_049178 VAR_049178 disease not phenotype-associated VAR_049179 commonName VAR_049179 VAR_049179 disease not phenotype-associated VAR_049180 commonName VAR_049180 VAR_049180 disease not phenotype-associated VAR_049181 commonName VAR_049181 VAR_049181 disease not phenotype-associated VAR_049182 commonName VAR_049182 VAR_049182 disease not phenotype-associated VAR_049183 commonName VAR_049183 VAR_049183 disease not phenotype-associated VAR_049184 commonName VAR_049184 VAR_049184 disease not phenotype-associated VAR_049185 commonName VAR_049185 VAR_049185 disease not phenotype-associated VAR_049187 commonName VAR_049187 VAR_049187 disease not phenotype-associated VAR_049188 commonName VAR_049188 VAR_049188 disease not phenotype-associated VAR_049189 commonName VAR_049189 VAR_049189 disease not phenotype-associated VAR_049190 commonName VAR_049190 VAR_049190 disease not phenotype-associated VAR_049191 commonName VAR_049191 VAR_049191 disease not phenotype-associated VAR_049192 commonName VAR_049192 VAR_049192 disease not phenotype-associated VAR_049197 commonName VAR_049197 VAR_049197 disease not phenotype-associated VAR_049198 commonName VAR_049198 VAR_049198 disease not phenotype-associated VAR_049199 commonName VAR_049199 VAR_049199 disease not phenotype-associated VAR_049200 commonName VAR_049200 VAR_049200 disease not phenotype-associated VAR_049201 commonName VAR_049201 VAR_049201 disease not phenotype-associated VAR_049202 commonName VAR_049202 VAR_049202 disease not phenotype-associated VAR_049204 commonName VAR_049204 VAR_049204 disease not phenotype-associated VAR_049205 commonName VAR_049205 VAR_049205 disease not phenotype-associated VAR_049206 commonName VAR_049206 VAR_049206 disease not phenotype-associated VAR_049207 commonName VAR_049207 VAR_049207 disease not phenotype-associated VAR_049208 commonName VAR_049208 VAR_049208 disease not phenotype-associated VAR_049209 commonName VAR_049209 VAR_049209 disease not phenotype-associated VAR_049210 commonName VAR_049210 VAR_049210 disease not phenotype-associated VAR_049213 commonName VAR_049213 VAR_049213 disease not phenotype-associated VAR_049214 commonName VAR_049214 VAR_049214 disease not phenotype-associated VAR_049215 commonName VAR_049215 VAR_049215 disease not phenotype-associated VAR_049216 commonName VAR_049216 VAR_049216 disease not phenotype-associated VAR_049218 commonName VAR_049218 VAR_049218 disease not phenotype-associated VAR_049219 commonName VAR_049219 VAR_049219 disease not phenotype-associated VAR_049220 commonName VAR_049220 VAR_049220 disease not phenotype-associated VAR_049221 commonName VAR_049221 VAR_049221 disease not phenotype-associated VAR_049222 commonName VAR_049222 VAR_049222 disease not phenotype-associated VAR_049225 commonName VAR_049225 VAR_049225 disease not phenotype-associated VAR_049226 commonName VAR_049226 VAR_049226 disease not phenotype-associated VAR_049227 commonName VAR_049227 VAR_049227 disease not phenotype-associated VAR_049228 commonName VAR_049228 VAR_049228 disease not phenotype-associated VAR_049229 commonName VAR_049229 VAR_049229 disease not phenotype-associated VAR_049230 commonName VAR_049230 VAR_049230 disease not phenotype-associated VAR_049233 commonName VAR_049233 VAR_049233 disease not phenotype-associated VAR_049234 commonName VAR_049234 VAR_049234 disease not phenotype-associated VAR_049235 commonName VAR_049235 VAR_049235 disease not phenotype-associated VAR_049237 commonName VAR_049237 VAR_049237 disease not phenotype-associated VAR_049238 commonName VAR_049238 VAR_049238 disease not phenotype-associated VAR_049239 commonName VAR_049239 VAR_049239 disease not phenotype-associated VAR_049240 commonName VAR_049240 VAR_049240 disease not phenotype-associated VAR_049241 commonName VAR_049241 VAR_049241 disease not phenotype-associated VAR_049242 commonName VAR_049242 VAR_049242 disease not phenotype-associated VAR_049243 commonName VAR_049243 VAR_049243 disease not phenotype-associated VAR_049244 commonName VAR_049244 VAR_049244 disease not phenotype-associated VAR_049245 commonName VAR_049245 VAR_049245 disease not phenotype-associated VAR_049247 commonName VAR_049247 VAR_049247 disease not phenotype-associated VAR_049248 commonName VAR_049248 VAR_049248 disease not phenotype-associated VAR_049249 commonName VAR_049249 VAR_049249 disease not phenotype-associated VAR_049251 commonName VAR_049251 VAR_049251 disease not phenotype-associated VAR_049252 commonName VAR_049252 VAR_049252 disease not phenotype-associated VAR_049253 commonName VAR_049253 VAR_049253 disease not phenotype-associated VAR_049254 commonName VAR_049254 VAR_049254 disease not phenotype-associated VAR_049255 commonName VAR_049255 VAR_049255 disease not phenotype-associated VAR_049256 commonName VAR_049256 VAR_049256 disease not phenotype-associated VAR_049257 commonName VAR_049257 VAR_049257 disease not phenotype-associated VAR_049259 commonName VAR_049259 VAR_049259 disease not phenotype-associated VAR_049260 commonName VAR_049260 VAR_049260 disease not phenotype-associated VAR_049261 commonName VAR_049261 VAR_049261 disease not phenotype-associated VAR_049262 commonName VAR_049262 VAR_049262 disease not phenotype-associated VAR_049263 commonName VAR_049263 VAR_049263 disease not phenotype-associated VAR_049264 commonName VAR_049264 VAR_049264 disease not phenotype-associated VAR_049265 commonName VAR_049265 VAR_049265 disease not phenotype-associated VAR_049266 commonName VAR_049266 VAR_049266 disease not phenotype-associated VAR_049267 commonName VAR_049267 VAR_049267 disease not phenotype-associated VAR_049268 commonName VAR_049268 VAR_049268 disease not phenotype-associated VAR_049269 commonName VAR_049269 VAR_049269 disease not phenotype-associated VAR_049270 commonName VAR_049270 VAR_049270 disease not phenotype-associated VAR_049271 commonName VAR_049271 VAR_049271 disease not phenotype-associated VAR_049272 commonName VAR_049272 VAR_049272 disease not phenotype-associated VAR_049273 commonName VAR_049273 VAR_049273 disease not phenotype-associated VAR_049274 commonName VAR_049274 VAR_049274 disease not phenotype-associated VAR_049275 commonName VAR_049275 VAR_049275 disease not phenotype-associated VAR_049276 commonName VAR_049276 VAR_049276 disease not phenotype-associated VAR_049277 commonName VAR_049277 VAR_049277 disease not phenotype-associated VAR_049278 commonName VAR_049278 VAR_049278 disease not phenotype-associated VAR_049280 commonName VAR_049280 VAR_049280 disease not phenotype-associated VAR_049281 commonName VAR_049281 VAR_049281 disease not phenotype-associated VAR_049282 commonName VAR_049282 VAR_049282 disease not phenotype-associated VAR_049283 commonName VAR_049283 VAR_049283 disease not phenotype-associated VAR_049284 commonName VAR_049284 VAR_049284 disease not phenotype-associated VAR_049285 commonName VAR_049285 VAR_049285 disease not phenotype-associated VAR_049286 commonName VAR_049286 VAR_049286 disease not phenotype-associated VAR_049287 commonName VAR_049287 VAR_049287 disease not phenotype-associated VAR_049288 commonName VAR_049288 VAR_049288 disease not phenotype-associated VAR_049289 commonName VAR_049289 VAR_049289 disease not phenotype-associated VAR_049290 commonName VAR_049290 VAR_049290 disease not phenotype-associated VAR_049291 commonName VAR_049291 VAR_049291 disease not phenotype-associated VAR_049292 commonName VAR_049292 VAR_049292 disease not phenotype-associated VAR_049293 commonName VAR_049293 VAR_049293 disease not phenotype-associated VAR_049294 commonName VAR_049294 VAR_049294 disease not phenotype-associated VAR_049295 commonName VAR_049295 VAR_049295 disease not phenotype-associated VAR_049296 commonName VAR_049296 VAR_049296 disease not phenotype-associated VAR_049297 commonName VAR_049297 VAR_049297 disease not phenotype-associated VAR_049298 commonName VAR_049298 VAR_049298 disease not phenotype-associated VAR_049299 commonName VAR_049299 VAR_049299 disease not phenotype-associated VAR_049300 commonName VAR_049300 VAR_049300 disease not phenotype-associated VAR_049301 commonName VAR_049301 VAR_049301 disease not phenotype-associated VAR_049302 commonName VAR_049302 VAR_049302 disease not phenotype-associated VAR_049303 commonName VAR_049303 VAR_049303 disease not phenotype-associated VAR_049304 commonName VAR_049304 VAR_049304 disease not phenotype-associated VAR_049305 commonName VAR_049305 VAR_049305 disease not phenotype-associated VAR_049306 commonName VAR_049306 VAR_049306 disease not phenotype-associated VAR_049307 commonName VAR_049307 VAR_049307 disease not phenotype-associated VAR_049308 commonName VAR_049308 VAR_049308 disease not phenotype-associated VAR_049309 commonName VAR_049309 VAR_049309 disease not phenotype-associated VAR_049310 commonName VAR_049310 VAR_049310 disease not phenotype-associated VAR_049311 commonName VAR_049311 VAR_049311 disease not phenotype-associated VAR_049312 commonName VAR_049312 VAR_049312 disease not phenotype-associated VAR_049313 commonName VAR_049313 VAR_049313 disease not phenotype-associated VAR_049314 commonName VAR_049314 VAR_049314 disease not phenotype-associated VAR_049315 commonName VAR_049315 VAR_049315 disease not phenotype-associated VAR_049316 commonName VAR_049316 VAR_049316 disease not phenotype-associated VAR_049317 commonName VAR_049317 VAR_049317 disease not phenotype-associated VAR_049318 commonName VAR_049318 VAR_049318 disease not phenotype-associated VAR_049319 commonName VAR_049319 VAR_049319 disease not phenotype-associated VAR_049320 commonName VAR_049320 VAR_049320 disease not phenotype-associated VAR_049321 commonName VAR_049321 VAR_049321 disease not phenotype-associated VAR_049322 commonName VAR_049322 VAR_049322 disease not phenotype-associated VAR_049323 commonName VAR_049323 VAR_049323 disease not phenotype-associated VAR_049324 commonName VAR_049324 VAR_049324 disease not phenotype-associated VAR_049325 commonName VAR_049325 VAR_049325 disease not phenotype-associated VAR_049326 commonName VAR_049326 VAR_049326 disease not phenotype-associated VAR_049327 commonName VAR_049327 VAR_049327 disease not phenotype-associated VAR_049328 commonName VAR_049328 VAR_049328 disease not phenotype-associated VAR_049329 commonName VAR_049329 VAR_049329 disease not phenotype-associated VAR_049330 commonName VAR_049330 VAR_049330 disease not phenotype-associated VAR_049331 commonName VAR_049331 VAR_049331 disease not phenotype-associated VAR_049332 commonName VAR_049332 VAR_049332 disease not phenotype-associated VAR_049333 commonName VAR_049333 VAR_049333 disease not phenotype-associated VAR_049334 commonName VAR_049334 VAR_049334 disease not phenotype-associated VAR_049335 commonName VAR_049335 VAR_049335 disease not phenotype-associated VAR_049336 commonName VAR_049336 VAR_049336 disease not phenotype-associated VAR_049337 commonName VAR_049337 VAR_049337 disease not phenotype-associated VAR_049338 commonName VAR_049338 VAR_049338 disease not phenotype-associated VAR_049339 commonName VAR_049339 VAR_049339 disease not phenotype-associated VAR_049340 commonName VAR_049340 VAR_049340 disease not phenotype-associated VAR_049341 commonName VAR_049341 VAR_049341 disease not phenotype-associated VAR_049342 commonName VAR_049342 VAR_049342 disease not phenotype-associated VAR_049343 commonName VAR_049343 VAR_049343 disease not phenotype-associated VAR_049344 commonName VAR_049344 VAR_049344 disease not phenotype-associated VAR_049345 commonName VAR_049345 VAR_049345 disease not phenotype-associated VAR_049346 commonName VAR_049346 VAR_049346 disease not phenotype-associated VAR_049347 commonName VAR_049347 VAR_049347 disease not phenotype-associated VAR_049348 commonName VAR_049348 VAR_049348 disease not phenotype-associated VAR_049349 commonName VAR_049349 VAR_049349 disease not phenotype-associated VAR_049351 commonName VAR_049351 VAR_049351 disease not phenotype-associated HbVar.684 protEffect HBB 7(A3) Glu>Val AND HBB 59(E2) Pro>Arg VAR_049352 commonName VAR_049352 VAR_049352 disease not phenotype-associated VAR_049353 commonName VAR_049353 VAR_049353 disease not phenotype-associated VAR_049354 commonName VAR_049354 VAR_049354 disease not phenotype-associated VAR_049355 commonName VAR_049355 VAR_049355 disease not phenotype-associated VAR_049356 commonName VAR_049356 VAR_049356 disease not phenotype-associated VAR_049357 commonName VAR_049357 VAR_049357 disease not phenotype-associated VAR_049359 commonName VAR_049359 VAR_049359 disease not phenotype-associated VAR_049360 commonName VAR_049360 VAR_049360 disease not phenotype-associated VAR_049361 commonName VAR_049361 VAR_049361 disease not phenotype-associated VAR_049366 commonName VAR_049366 VAR_049366 disease not phenotype-associated VAR_049367 commonName VAR_049367 VAR_049367 disease not phenotype-associated VAR_049368 commonName VAR_049368 VAR_049368 disease not phenotype-associated VAR_049369 commonName VAR_049369 VAR_049369 disease not phenotype-associated VAR_049370 commonName VAR_049370 VAR_049370 disease not phenotype-associated VAR_049371 commonName VAR_049371 VAR_049371 disease not phenotype-associated VAR_049372 commonName VAR_049372 VAR_049372 disease not phenotype-associated VAR_049373 commonName VAR_049373 VAR_049373 disease not phenotype-associated VAR_049374 commonName VAR_049374 VAR_049374 disease not phenotype-associated VAR_049375 commonName VAR_049375 VAR_049375 disease not phenotype-associated VAR_049376 commonName VAR_049376 VAR_049376 disease not phenotype-associated VAR_049377 commonName VAR_049377 VAR_049377 disease not phenotype-associated VAR_049378 commonName VAR_049378 VAR_049378 disease not phenotype-associated VAR_049379 commonName VAR_049379 VAR_049379 disease not phenotype-associated VAR_049380 commonName VAR_049380 VAR_049380 disease not phenotype-associated VAR_049381 commonName VAR_049381 VAR_049381 disease not phenotype-associated VAR_049382 commonName VAR_049382 VAR_049382 disease not phenotype-associated VAR_049383 commonName VAR_049383 VAR_049383 disease not phenotype-associated VAR_049384 commonName VAR_049384 VAR_049384 disease not phenotype-associated VAR_049385 commonName VAR_049385 VAR_049385 disease not phenotype-associated VAR_049386 commonName VAR_049386 VAR_049386 disease not phenotype-associated VAR_049387 commonName VAR_049387 VAR_049387 disease not phenotype-associated VAR_049388 commonName VAR_049388 VAR_049388 disease not phenotype-associated VAR_049389 commonName VAR_049389 VAR_049389 disease not phenotype-associated VAR_049390 commonName VAR_049390 VAR_049390 disease not phenotype-associated VAR_049391 commonName VAR_049391 VAR_049391 disease not phenotype-associated VAR_049392 commonName VAR_049392 VAR_049392 disease not phenotype-associated VAR_049393 commonName VAR_049393 VAR_049393 disease not phenotype-associated VAR_049394 commonName VAR_049394 VAR_049394 disease not phenotype-associated VAR_049395 commonName VAR_049395 VAR_049395 disease not phenotype-associated VAR_049396 commonName VAR_049396 VAR_049396 disease not phenotype-associated VAR_049397 commonName VAR_049397 VAR_049397 disease not phenotype-associated VAR_049398 commonName VAR_049398 VAR_049398 disease not phenotype-associated VAR_049399 commonName VAR_049399 VAR_049399 disease not phenotype-associated VAR_049400 commonName VAR_049400 VAR_049400 disease not phenotype-associated VAR_049401 commonName VAR_049401 VAR_049401 disease not phenotype-associated VAR_049402 commonName VAR_049402 VAR_049402 disease not phenotype-associated VAR_049403 commonName VAR_049403 VAR_049403 disease not phenotype-associated VAR_049404 commonName VAR_049404 VAR_049404 disease not phenotype-associated VAR_049405 commonName VAR_049405 VAR_049405 disease not phenotype-associated VAR_049406 commonName VAR_049406 VAR_049406 disease not phenotype-associated VAR_049407 commonName VAR_049407 VAR_049407 disease not phenotype-associated VAR_049408 commonName VAR_049408 VAR_049408 disease not phenotype-associated VAR_049409 commonName VAR_049409 VAR_049409 disease not phenotype-associated VAR_049410 commonName VAR_049410 VAR_049410 disease not phenotype-associated VAR_049411 commonName VAR_049411 VAR_049411 disease not phenotype-associated VAR_049412 commonName VAR_049412 VAR_049412 disease not phenotype-associated VAR_049413 commonName VAR_049413 VAR_049413 disease not phenotype-associated VAR_049414 commonName VAR_049414 VAR_049414 disease not phenotype-associated VAR_049415 commonName VAR_049415 VAR_049415 disease not phenotype-associated VAR_049417 commonName VAR_049417 VAR_049417 disease not phenotype-associated VAR_049418 commonName VAR_049418 VAR_049418 disease not phenotype-associated VAR_049419 commonName VAR_049419 VAR_049419 disease not phenotype-associated VAR_049420 commonName VAR_049420 VAR_049420 disease not phenotype-associated VAR_049421 commonName VAR_049421 VAR_049421 disease not phenotype-associated VAR_049422 commonName VAR_049422 VAR_049422 disease not phenotype-associated VAR_049423 commonName VAR_049423 VAR_049423 disease not phenotype-associated VAR_049424 commonName VAR_049424 VAR_049424 disease not phenotype-associated VAR_049425 commonName VAR_049425 VAR_049425 disease not phenotype-associated VAR_049426 commonName VAR_049426 VAR_049426 disease not phenotype-associated VAR_049427 commonName VAR_049427 VAR_049427 disease not phenotype-associated VAR_049428 commonName VAR_049428 VAR_049428 disease not phenotype-associated VAR_049429 commonName VAR_049429 VAR_049429 disease not phenotype-associated VAR_049430 commonName VAR_049430 VAR_049430 disease not phenotype-associated VAR_049431 commonName VAR_049431 VAR_049431 disease not phenotype-associated VAR_049432 commonName VAR_049432 VAR_049432 disease not phenotype-associated VAR_049433 commonName VAR_049433 VAR_049433 disease not phenotype-associated VAR_049434 commonName VAR_049434 VAR_049434 disease not phenotype-associated VAR_049435 commonName VAR_049435 VAR_049435 disease not phenotype-associated VAR_049436 commonName VAR_049436 VAR_049436 disease not phenotype-associated VAR_049437 commonName VAR_049437 VAR_049437 disease not phenotype-associated VAR_049438 commonName VAR_049438 VAR_049438 disease not phenotype-associated VAR_049440 commonName VAR_049440 VAR_049440 disease not phenotype-associated VAR_049441 commonName VAR_049441 VAR_049441 disease not phenotype-associated VAR_049442 commonName VAR_049442 VAR_049442 disease not phenotype-associated VAR_049443 commonName VAR_049443 VAR_049443 disease not phenotype-associated VAR_049444 commonName VAR_049444 VAR_049444 disease not phenotype-associated VAR_049445 commonName VAR_049445 VAR_049445 disease not phenotype-associated VAR_049446 commonName VAR_049446 VAR_049446 disease not phenotype-associated VAR_049447 commonName VAR_049447 VAR_049447 disease not phenotype-associated VAR_049448 commonName VAR_049448 VAR_049448 disease not phenotype-associated VAR_049449 commonName VAR_049449 VAR_049449 disease not phenotype-associated VAR_049450 commonName VAR_049450 VAR_049450 disease not phenotype-associated VAR_049451 commonName VAR_049451 VAR_049451 disease not phenotype-associated VAR_049452 commonName VAR_049452 VAR_049452 disease not phenotype-associated VAR_049453 commonName VAR_049453 VAR_049453 disease not phenotype-associated VAR_049454 commonName VAR_049454 VAR_049454 disease not phenotype-associated VAR_049455 commonName VAR_049455 VAR_049455 disease not phenotype-associated VAR_049456 commonName VAR_049456 VAR_049456 disease not phenotype-associated VAR_049457 commonName VAR_049457 VAR_049457 disease not phenotype-associated VAR_049459 commonName VAR_049459 VAR_049459 disease not phenotype-associated VAR_049460 commonName VAR_049460 VAR_049460 disease not phenotype-associated VAR_049461 commonName VAR_049461 VAR_049461 disease not phenotype-associated VAR_049462 commonName VAR_049462 VAR_049462 disease not phenotype-associated VAR_049463 commonName VAR_049463 VAR_049463 disease not phenotype-associated VAR_049464 commonName VAR_049464 VAR_049464 disease not phenotype-associated VAR_049465 commonName VAR_049465 VAR_049465 disease not phenotype-associated VAR_049466 commonName VAR_049466 VAR_049466 disease not phenotype-associated VAR_049467 commonName VAR_049467 VAR_049467 disease not phenotype-associated VAR_049468 commonName VAR_049468 VAR_049468 disease not phenotype-associated VAR_049469 commonName VAR_049469 VAR_049469 disease not phenotype-associated VAR_049470 commonName VAR_049470 VAR_049470 disease not phenotype-associated VAR_049471 commonName VAR_049471 VAR_049471 disease not phenotype-associated VAR_049472 commonName VAR_049472 VAR_049472 disease not phenotype-associated VAR_049473 commonName VAR_049473 VAR_049473 disease not phenotype-associated VAR_049474 commonName VAR_049474 VAR_049474 disease not phenotype-associated VAR_049475 commonName VAR_049475 VAR_049475 disease not phenotype-associated VAR_049476 commonName VAR_049476 VAR_049476 disease not phenotype-associated VAR_049480 commonName VAR_049480 VAR_049480 disease not phenotype-associated VAR_049481 commonName VAR_049481 VAR_049481 disease not phenotype-associated VAR_049482 commonName VAR_049482 VAR_049482 disease not phenotype-associated VAR_049483 commonName VAR_049483 VAR_049483 disease not phenotype-associated VAR_049484 commonName VAR_049484 VAR_049484 disease not phenotype-associated VAR_049485 commonName VAR_049485 VAR_049485 disease not phenotype-associated VAR_049486 commonName VAR_049486 VAR_049486 disease not phenotype-associated VAR_049491 commonName VAR_049491 VAR_049491 disease not phenotype-associated VAR_049492 commonName VAR_049492 VAR_049492 disease not phenotype-associated VAR_049493 commonName VAR_049493 VAR_049493 disease not phenotype-associated VAR_049494 commonName VAR_049494 VAR_049494 disease not phenotype-associated VAR_049495 commonName VAR_049495 VAR_049495 disease not phenotype-associated VAR_049496 commonName VAR_049496 VAR_049496 disease not phenotype-associated VAR_049497 commonName VAR_049497 VAR_049497 disease not phenotype-associated VAR_049498 commonName VAR_049498 VAR_049498 disease not phenotype-associated VAR_049499 commonName VAR_049499 VAR_049499 disease not phenotype-associated VAR_049500 commonName VAR_049500 VAR_049500 disease not phenotype-associated VAR_049501 commonName VAR_049501 VAR_049501 disease not phenotype-associated VAR_049502 commonName VAR_049502 VAR_049502 disease not phenotype-associated VAR_049503 commonName VAR_049503 VAR_049503 disease not phenotype-associated VAR_049504 commonName VAR_049504 VAR_049504 disease not phenotype-associated VAR_049505 commonName VAR_049505 VAR_049505 disease not phenotype-associated VAR_049506 commonName VAR_049506 VAR_049506 disease not phenotype-associated VAR_049507 commonName VAR_049507 VAR_049507 disease not phenotype-associated VAR_049508 commonName VAR_049508 VAR_049508 disease not phenotype-associated VAR_049509 commonName VAR_049509 VAR_049509 disease not phenotype-associated VAR_049510 commonName VAR_049510 VAR_049510 disease not phenotype-associated VAR_049511 commonName VAR_049511 VAR_049511 disease not phenotype-associated VAR_049514 commonName VAR_049514 VAR_049514 disease not phenotype-associated VAR_049520 commonName VAR_049520 VAR_049520 disease not phenotype-associated VAR_049521 commonName VAR_049521 VAR_049521 disease not phenotype-associated VAR_049522 commonName VAR_049522 VAR_049522 disease not phenotype-associated VAR_049523 commonName VAR_049523 VAR_049523 disease not phenotype-associated VAR_049524 commonName VAR_049524 VAR_049524 disease not phenotype-associated VAR_049525 commonName VAR_049525 VAR_049525 disease not phenotype-associated VAR_049526 commonName VAR_049526 VAR_049526 disease not phenotype-associated VAR_049527 commonName VAR_049527 VAR_049527 disease not phenotype-associated VAR_049528 commonName VAR_049528 VAR_049528 disease not phenotype-associated VAR_049529 commonName VAR_049529 VAR_049529 disease not phenotype-associated VAR_049530 commonName VAR_049530 VAR_049530 disease not phenotype-associated VAR_049531 commonName VAR_049531 VAR_049531 disease not phenotype-associated VAR_049532 commonName VAR_049532 VAR_049532 disease not phenotype-associated VAR_049533 commonName VAR_049533 VAR_049533 disease not phenotype-associated VAR_049534 commonName VAR_049534 VAR_049534 disease not phenotype-associated VAR_049535 commonName VAR_049535 VAR_049535 disease not phenotype-associated VAR_049536 commonName VAR_049536 VAR_049536 disease not phenotype-associated VAR_049537 commonName VAR_049537 VAR_049537 disease not phenotype-associated VAR_049538 commonName VAR_049538 VAR_049538 disease not phenotype-associated VAR_049539 commonName VAR_049539 VAR_049539 disease not phenotype-associated VAR_049540 commonName VAR_049540 VAR_049540 disease not phenotype-associated VAR_049541 commonName VAR_049541 VAR_049541 disease not phenotype-associated VAR_049542 commonName VAR_049542 VAR_049542 disease not phenotype-associated VAR_049543 commonName VAR_049543 VAR_049543 disease not phenotype-associated VAR_049544 commonName VAR_049544 VAR_049544 disease not phenotype-associated VAR_049545 commonName VAR_049545 VAR_049545 disease not phenotype-associated VAR_049546 commonName VAR_049546 VAR_049546 disease not phenotype-associated VAR_049547 commonName VAR_049547 VAR_049547 disease not phenotype-associated VAR_049548 commonName VAR_049548 VAR_049548 disease not phenotype-associated VAR_049549 commonName VAR_049549 VAR_049549 disease not phenotype-associated VAR_049550 commonName VAR_049550 VAR_049550 disease not phenotype-associated VAR_049551 commonName VAR_049551 VAR_049551 disease not phenotype-associated VAR_049552 commonName VAR_049552 VAR_049552 disease not phenotype-associated VAR_049553 commonName VAR_049553 VAR_049553 disease not phenotype-associated VAR_049555 commonName VAR_049555 VAR_049555 disease not phenotype-associated VAR_049556 commonName VAR_049556 VAR_049556 disease not phenotype-associated VAR_049557 commonName VAR_049557 VAR_049557 disease not phenotype-associated VAR_049558 commonName VAR_049558 VAR_049558 disease not phenotype-associated VAR_049559 commonName VAR_049559 VAR_049559 disease not phenotype-associated VAR_049560 commonName VAR_049560 VAR_049560 disease not phenotype-associated VAR_049561 commonName VAR_049561 VAR_049561 disease not phenotype-associated VAR_049562 commonName VAR_049562 VAR_049562 disease not phenotype-associated VAR_049563 commonName VAR_049563 VAR_049563 disease not phenotype-associated VAR_049564 commonName VAR_049564 VAR_049564 disease not phenotype-associated VAR_049565 commonName VAR_049565 VAR_049565 disease not phenotype-associated VAR_049566 commonName VAR_049566 VAR_049566 disease not phenotype-associated VAR_049567 commonName VAR_049567 VAR_049567 disease not phenotype-associated VAR_049568 commonName VAR_049568 VAR_049568 disease not phenotype-associated VAR_049569 commonName VAR_049569 VAR_049569 disease not phenotype-associated VAR_049570 commonName VAR_049570 VAR_049570 disease not phenotype-associated VAR_049571 commonName VAR_049571 VAR_049571 disease not phenotype-associated VAR_049572 commonName VAR_049572 VAR_049572 disease not phenotype-associated VAR_049573 commonName VAR_049573 VAR_049573 disease not phenotype-associated VAR_049574 commonName VAR_049574 VAR_049574 disease not phenotype-associated VAR_049575 commonName VAR_049575 VAR_049575 disease not phenotype-associated VAR_049576 commonName VAR_049576 VAR_049576 disease not phenotype-associated VAR_049577 commonName VAR_049577 VAR_049577 disease not phenotype-associated VAR_049578 commonName VAR_049578 VAR_049578 disease not phenotype-associated VAR_049579 commonName VAR_049579 VAR_049579 disease not phenotype-associated VAR_049580 commonName VAR_049580 VAR_049580 disease not phenotype-associated VAR_049581 commonName VAR_049581 VAR_049581 disease not phenotype-associated VAR_049582 commonName VAR_049582 VAR_049582 disease not phenotype-associated VAR_049583 commonName VAR_049583 VAR_049583 disease not phenotype-associated VAR_049584 commonName VAR_049584 VAR_049584 disease not phenotype-associated VAR_049585 commonName VAR_049585 VAR_049585 disease not phenotype-associated VAR_049586 commonName VAR_049586 VAR_049586 disease not phenotype-associated VAR_049587 commonName VAR_049587 VAR_049587 disease not phenotype-associated VAR_049588 commonName VAR_049588 VAR_049588 disease not phenotype-associated VAR_049589 commonName VAR_049589 VAR_049589 disease not phenotype-associated VAR_049590 commonName VAR_049590 VAR_049590 disease not phenotype-associated VAR_049591 commonName VAR_049591 VAR_049591 disease not phenotype-associated VAR_049592 commonName VAR_049592 VAR_049592 disease not phenotype-associated VAR_049593 commonName VAR_049593 VAR_049593 disease not phenotype-associated VAR_049594 commonName VAR_049594 VAR_049594 disease not phenotype-associated VAR_049595 commonName VAR_049595 VAR_049595 disease not phenotype-associated VAR_049596 commonName VAR_049596 VAR_049596 disease not phenotype-associated VAR_049597 commonName VAR_049597 VAR_049597 disease not phenotype-associated VAR_049598 commonName VAR_049598 VAR_049598 disease not phenotype-associated VAR_049599 commonName VAR_049599 VAR_049599 disease not phenotype-associated VAR_049600 commonName VAR_049600 VAR_049600 disease not phenotype-associated VAR_049601 commonName VAR_049601 VAR_049601 disease not phenotype-associated VAR_049604 commonName VAR_049604 VAR_049604 disease not phenotype-associated VAR_049605 commonName VAR_049605 VAR_049605 disease not phenotype-associated VAR_049606 commonName VAR_049606 VAR_049606 disease not phenotype-associated VAR_049607 commonName VAR_049607 VAR_049607 disease not phenotype-associated VAR_049608 commonName VAR_049608 VAR_049608 disease not phenotype-associated VAR_049609 commonName VAR_049609 VAR_049609 disease not phenotype-associated VAR_049610 commonName VAR_049610 VAR_049610 disease not phenotype-associated VAR_049611 commonName VAR_049611 VAR_049611 disease not phenotype-associated VAR_049612 commonName VAR_049612 VAR_049612 disease not phenotype-associated VAR_049613 commonName VAR_049613 VAR_049613 disease not phenotype-associated VAR_049614 commonName VAR_049614 VAR_049614 disease not phenotype-associated VAR_049615 commonName VAR_049615 VAR_049615 disease not phenotype-associated VAR_049616 commonName VAR_049616 VAR_049616 disease not phenotype-associated VAR_049617 commonName VAR_049617 VAR_049617 disease not phenotype-associated VAR_049618 commonName VAR_049618 VAR_049618 disease not phenotype-associated VAR_049619 commonName VAR_049619 VAR_049619 disease not phenotype-associated VAR_049621 commonName VAR_049621 VAR_049621 disease not phenotype-associated VAR_049622 commonName VAR_049622 VAR_049622 disease not phenotype-associated VAR_049623 commonName VAR_049623 VAR_049623 disease not phenotype-associated VAR_049624 commonName VAR_049624 VAR_049624 disease not phenotype-associated VAR_049625 commonName VAR_049625 VAR_049625 disease not phenotype-associated VAR_049627 commonName VAR_049627 VAR_049627 disease not phenotype-associated VAR_049628 commonName VAR_049628 VAR_049628 disease not phenotype-associated VAR_049629 commonName VAR_049629 VAR_049629 disease not phenotype-associated VAR_049630 commonName VAR_049630 VAR_049630 disease not phenotype-associated VAR_049631 commonName VAR_049631 VAR_049631 disease not phenotype-associated VAR_049632 commonName VAR_049632 VAR_049632 disease not phenotype-associated VAR_049633 commonName VAR_049633 VAR_049633 disease not phenotype-associated VAR_049634 commonName VAR_049634 VAR_049634 disease not phenotype-associated VAR_049635 commonName VAR_049635 VAR_049635 disease not phenotype-associated VAR_049636 commonName VAR_049636 VAR_049636 disease not phenotype-associated VAR_049637 commonName VAR_049637 VAR_049637 disease not phenotype-associated VAR_049638 commonName VAR_049638 VAR_049638 disease not phenotype-associated VAR_049639 commonName VAR_049639 VAR_049639 disease not phenotype-associated VAR_049640 commonName VAR_049640 VAR_049640 disease not phenotype-associated VAR_049641 commonName VAR_049641 VAR_049641 disease not phenotype-associated VAR_049642 commonName VAR_049642 VAR_049642 disease not phenotype-associated VAR_049643 commonName VAR_049643 VAR_049643 disease not phenotype-associated VAR_049645 commonName VAR_049645 VAR_049645 disease not phenotype-associated VAR_049646 commonName VAR_049646 VAR_049646 disease not phenotype-associated VAR_049647 commonName VAR_049647 VAR_049647 disease not phenotype-associated VAR_049648 commonName VAR_049648 VAR_049648 disease not phenotype-associated VAR_049649 commonName VAR_049649 VAR_049649 disease not phenotype-associated VAR_049650 commonName VAR_049650 VAR_049650 disease not phenotype-associated VAR_049651 commonName VAR_049651 VAR_049651 disease not phenotype-associated VAR_049652 commonName VAR_049652 VAR_049652 disease not phenotype-associated VAR_049653 commonName VAR_049653 VAR_049653 disease not phenotype-associated VAR_049654 commonName VAR_049654 VAR_049654 disease not phenotype-associated VAR_049655 commonName VAR_049655 VAR_049655 disease not phenotype-associated VAR_049656 commonName VAR_049656 VAR_049656 disease not phenotype-associated VAR_049657 commonName VAR_049657 VAR_049657 disease not phenotype-associated VAR_049660 commonName VAR_049660 VAR_049660 disease not phenotype-associated VAR_049661 commonName VAR_049661 VAR_049661 disease not phenotype-associated VAR_049662 commonName VAR_049662 VAR_049662 disease not phenotype-associated VAR_049664 commonName VAR_049664 VAR_049664 disease not phenotype-associated VAR_049665 commonName VAR_049665 VAR_049665 disease not phenotype-associated VAR_049666 commonName VAR_049666 VAR_049666 disease not phenotype-associated VAR_049667 commonName VAR_049667 VAR_049667 disease not phenotype-associated VAR_049668 commonName VAR_049668 VAR_049668 disease not phenotype-associated VAR_049669 commonName VAR_049669 VAR_049669 disease not phenotype-associated VAR_049670 commonName VAR_049670 VAR_049670 disease not phenotype-associated VAR_049671 commonName VAR_049671 VAR_049671 disease not phenotype-associated VAR_049672 commonName VAR_049672 VAR_049672 disease not phenotype-associated VAR_049673 commonName VAR_049673 VAR_049673 disease not phenotype-associated VAR_049674 commonName VAR_049674 VAR_049674 disease not phenotype-associated VAR_049675 commonName VAR_049675 VAR_049675 disease not phenotype-associated VAR_049676 commonName VAR_049676 VAR_049676 disease not phenotype-associated VAR_049677 commonName VAR_049677 VAR_049677 disease not phenotype-associated VAR_049678 commonName VAR_049678 VAR_049678 disease not phenotype-associated VAR_049679 commonName VAR_049679 VAR_049679 disease not phenotype-associated VAR_049680 commonName VAR_049680 VAR_049680 disease not phenotype-associated VAR_049681 commonName VAR_049681 VAR_049681 disease not phenotype-associated VAR_049682 commonName VAR_049682 VAR_049682 disease not phenotype-associated VAR_049683 commonName VAR_049683 VAR_049683 disease not phenotype-associated VAR_049684 commonName VAR_049684 VAR_049684 disease not phenotype-associated VAR_049685 commonName VAR_049685 VAR_049685 disease not phenotype-associated VAR_049686 commonName VAR_049686 VAR_049686 disease not phenotype-associated VAR_049687 commonName VAR_049687 VAR_049687 disease not phenotype-associated VAR_049688 commonName VAR_049688 VAR_049688 disease not phenotype-associated VAR_049689 commonName VAR_049689 VAR_049689 disease not phenotype-associated VAR_049690 commonName VAR_049690 VAR_049690 disease not phenotype-associated VAR_049691 commonName VAR_049691 VAR_049691 disease not phenotype-associated VAR_049692 commonName VAR_049692 VAR_049692 disease not phenotype-associated VAR_049693 commonName VAR_049693 VAR_049693 disease not phenotype-associated VAR_049695 commonName VAR_049695 VAR_049695 disease not phenotype-associated VAR_049696 commonName VAR_049696 VAR_049696 disease not phenotype-associated VAR_049697 commonName VAR_049697 VAR_049697 disease not phenotype-associated VAR_049698 commonName VAR_049698 VAR_049698 disease not phenotype-associated VAR_049699 commonName VAR_049699 VAR_049699 disease not phenotype-associated VAR_049700 commonName VAR_049700 VAR_049700 disease not phenotype-associated VAR_049701 commonName VAR_049701 VAR_049701 disease not phenotype-associated VAR_049702 commonName VAR_049702 VAR_049702 disease not phenotype-associated VAR_049703 commonName VAR_049703 VAR_049703 disease not phenotype-associated VAR_049704 commonName VAR_049704 VAR_049704 disease not phenotype-associated VAR_049705 commonName VAR_049705 VAR_049705 disease not phenotype-associated VAR_049706 commonName VAR_049706 VAR_049706 disease not phenotype-associated VAR_049707 commonName VAR_049707 VAR_049707 disease not phenotype-associated VAR_049708 commonName VAR_049708 VAR_049708 disease not phenotype-associated VAR_049709 commonName VAR_049709 VAR_049709 disease not phenotype-associated VAR_049710 commonName VAR_049710 VAR_049710 disease not phenotype-associated VAR_049712 commonName VAR_049712 VAR_049712 disease not phenotype-associated VAR_049713 commonName VAR_049713 VAR_049713 disease not phenotype-associated VAR_049714 commonName VAR_049714 VAR_049714 disease not phenotype-associated VAR_049715 commonName VAR_049715 VAR_049715 disease not phenotype-associated VAR_049717 commonName VAR_049717 VAR_049717 disease not phenotype-associated VAR_049718 commonName VAR_049718 VAR_049718 disease not phenotype-associated VAR_049719 commonName VAR_049719 VAR_049719 disease not phenotype-associated VAR_049720 commonName VAR_049720 VAR_049720 disease not phenotype-associated VAR_049722 commonName VAR_049722 VAR_049722 disease not phenotype-associated VAR_049724 commonName VAR_049724 VAR_049724 disease not phenotype-associated VAR_049725 commonName VAR_049725 VAR_049725 disease not phenotype-associated VAR_049726 commonName VAR_049726 VAR_049726 disease not phenotype-associated VAR_049727 commonName VAR_049727 VAR_049727 disease not phenotype-associated VAR_049728 commonName VAR_049728 VAR_049728 disease not phenotype-associated VAR_049729 commonName VAR_049729 VAR_049729 disease not phenotype-associated VAR_049730 commonName VAR_049730 VAR_049730 disease not phenotype-associated VAR_049732 commonName VAR_049732 VAR_049732 disease not phenotype-associated VAR_049733 commonName VAR_049733 VAR_049733 disease not phenotype-associated VAR_049734 commonName VAR_049734 VAR_049734 disease not phenotype-associated VAR_049735 commonName VAR_049735 VAR_049735 disease not phenotype-associated VAR_049736 commonName VAR_049736 VAR_049736 disease not phenotype-associated VAR_049737 commonName VAR_049737 VAR_049737 disease not phenotype-associated VAR_049738 commonName VAR_049738 VAR_049738 disease not phenotype-associated VAR_049739 commonName VAR_049739 VAR_049739 disease not phenotype-associated VAR_049740 commonName VAR_049740 VAR_049740 disease not phenotype-associated VAR_049741 commonName VAR_049741 VAR_049741 disease not phenotype-associated VAR_049742 commonName VAR_049742 VAR_049742 disease not phenotype-associated VAR_049743 commonName VAR_049743 VAR_049743 disease not phenotype-associated VAR_049744 commonName VAR_049744 VAR_049744 disease not phenotype-associated VAR_049745 commonName VAR_049745 VAR_049745 disease not phenotype-associated VAR_049746 commonName VAR_049746 VAR_049746 disease not phenotype-associated VAR_049747 commonName VAR_049747 VAR_049747 disease not phenotype-associated VAR_049748 commonName VAR_049748 VAR_049748 disease not phenotype-associated VAR_049749 commonName VAR_049749 VAR_049749 disease not phenotype-associated VAR_049750 commonName VAR_049750 VAR_049750 disease not phenotype-associated VAR_049751 commonName VAR_049751 VAR_049751 disease not phenotype-associated VAR_049752 commonName VAR_049752 VAR_049752 disease not phenotype-associated VAR_049753 commonName VAR_049753 VAR_049753 disease not phenotype-associated VAR_049754 commonName VAR_049754 VAR_049754 disease not phenotype-associated VAR_049755 commonName VAR_049755 VAR_049755 disease not phenotype-associated VAR_049756 commonName VAR_049756 VAR_049756 disease not phenotype-associated VAR_049757 commonName VAR_049757 VAR_049757 disease not phenotype-associated VAR_049758 commonName VAR_049758 VAR_049758 disease not phenotype-associated VAR_049759 commonName VAR_049759 VAR_049759 disease not phenotype-associated VAR_049760 commonName VAR_049760 VAR_049760 disease not phenotype-associated VAR_049761 commonName VAR_049761 VAR_049761 disease not phenotype-associated VAR_049762 commonName VAR_049762 VAR_049762 disease not phenotype-associated VAR_049763 commonName VAR_049763 VAR_049763 disease not phenotype-associated VAR_049764 commonName VAR_049764 VAR_049764 disease not phenotype-associated VAR_049766 commonName VAR_049766 VAR_049766 disease not phenotype-associated VAR_049767 commonName VAR_049767 VAR_049767 disease not phenotype-associated VAR_049768 commonName VAR_049768 VAR_049768 disease not phenotype-associated VAR_049769 commonName VAR_049769 VAR_049769 disease not phenotype-associated VAR_049770 commonName VAR_049770 VAR_049770 disease not phenotype-associated VAR_049771 commonName VAR_049771 VAR_049771 disease not phenotype-associated VAR_049772 commonName VAR_049772 VAR_049772 disease not phenotype-associated VAR_049773 commonName VAR_049773 VAR_049773 disease not phenotype-associated VAR_049774 commonName VAR_049774 VAR_049774 disease not phenotype-associated VAR_049775 commonName VAR_049775 VAR_049775 disease not phenotype-associated VAR_049776 commonName VAR_049776 VAR_049776 disease not phenotype-associated VAR_049777 commonName VAR_049777 VAR_049777 disease not phenotype-associated VAR_049778 commonName VAR_049778 VAR_049778 disease phenotype-associated VAR_049778 phenoCommon Cardiomyopathy dilated type 1T (CMD1T) [MIM:613740] VAR_049779 commonName VAR_049779 VAR_049779 disease not phenotype-associated VAR_049780 commonName VAR_049780 VAR_049780 disease not phenotype-associated VAR_049781 commonName VAR_049781 VAR_049781 disease not phenotype-associated VAR_049782 commonName VAR_049782 VAR_049782 disease not phenotype-associated VAR_049783 commonName VAR_049783 VAR_049783 disease not phenotype-associated VAR_049784 commonName VAR_049784 VAR_049784 disease not phenotype-associated VAR_049786 commonName VAR_049786 VAR_049786 disease not phenotype-associated VAR_049787 commonName VAR_049787 VAR_049787 disease not phenotype-associated VAR_049788 commonName VAR_049788 VAR_049788 disease not phenotype-associated VAR_049789 commonName VAR_049789 VAR_049789 disease not phenotype-associated VAR_049790 commonName VAR_049790 VAR_049790 disease not phenotype-associated VAR_049791 commonName VAR_049791 VAR_049791 disease not phenotype-associated VAR_049792 commonName VAR_049792 VAR_049792 disease not phenotype-associated VAR_049793 commonName VAR_049793 VAR_049793 disease not phenotype-associated VAR_049794 commonName VAR_049794 VAR_049794 disease not phenotype-associated VAR_049795 commonName VAR_049795 VAR_049795 disease not phenotype-associated VAR_049796 commonName VAR_049796 VAR_049796 disease not phenotype-associated VAR_049797 commonName VAR_049797 VAR_049797 disease not phenotype-associated VAR_049798 commonName VAR_049798 VAR_049798 disease not phenotype-associated VAR_049799 commonName VAR_049799 VAR_049799 disease not phenotype-associated VAR_049800 commonName VAR_049800 VAR_049800 disease not phenotype-associated VAR_049801 commonName VAR_049801 VAR_049801 disease not phenotype-associated VAR_049802 commonName VAR_049802 VAR_049802 disease not phenotype-associated VAR_049803 commonName VAR_049803 VAR_049803 disease not phenotype-associated VAR_049804 commonName VAR_049804 VAR_049804 disease not phenotype-associated VAR_049805 commonName VAR_049805 VAR_049805 disease not phenotype-associated VAR_049806 commonName VAR_049806 VAR_049806 disease not phenotype-associated VAR_049807 commonName VAR_049807 VAR_049807 disease not phenotype-associated VAR_049808 commonName VAR_049808 VAR_049808 disease not phenotype-associated VAR_049809 commonName VAR_049809 VAR_049809 disease not phenotype-associated VAR_049810 commonName VAR_049810 VAR_049810 disease not phenotype-associated VAR_049811 commonName VAR_049811 VAR_049811 disease not phenotype-associated VAR_049812 commonName VAR_049812 VAR_049812 disease not phenotype-associated VAR_049814 commonName VAR_049814 VAR_049814 disease not phenotype-associated VAR_049815 commonName VAR_049815 VAR_049815 disease not phenotype-associated VAR_049816 commonName VAR_049816 VAR_049816 disease not phenotype-associated VAR_049817 commonName VAR_049817 VAR_049817 disease not phenotype-associated VAR_049818 commonName VAR_049818 VAR_049818 disease not phenotype-associated VAR_049819 commonName VAR_049819 VAR_049819 disease not phenotype-associated VAR_049820 commonName VAR_049820 VAR_049820 disease not phenotype-associated VAR_049822 commonName VAR_049822 VAR_049822 disease not phenotype-associated VAR_049823 commonName VAR_049823 VAR_049823 disease not phenotype-associated VAR_049824 commonName VAR_049824 VAR_049824 disease not phenotype-associated VAR_049825 commonName VAR_049825 VAR_049825 disease not phenotype-associated VAR_049826 commonName VAR_049826 VAR_049826 disease not phenotype-associated VAR_049827 commonName VAR_049827 VAR_049827 disease not phenotype-associated VAR_049828 commonName VAR_049828 VAR_049828 disease not phenotype-associated VAR_049829 commonName VAR_049829 VAR_049829 disease not phenotype-associated VAR_049830 commonName VAR_049830 VAR_049830 disease not phenotype-associated VAR_049831 commonName VAR_049831 VAR_049831 disease not phenotype-associated VAR_049832 commonName VAR_049832 VAR_049832 disease not phenotype-associated VAR_049833 commonName VAR_049833 VAR_049833 disease not phenotype-associated VAR_049834 commonName VAR_049834 VAR_049834 disease not phenotype-associated VAR_049835 commonName VAR_049835 VAR_049835 disease not phenotype-associated VAR_049836 commonName VAR_049836 VAR_049836 disease not phenotype-associated VAR_049839 commonName VAR_049839 VAR_049839 disease not phenotype-associated VAR_049840 commonName VAR_049840 VAR_049840 disease not phenotype-associated VAR_049841 commonName VAR_049841 VAR_049841 disease not phenotype-associated VAR_049842 commonName VAR_049842 VAR_049842 disease not phenotype-associated VAR_049843 commonName VAR_049843 VAR_049843 disease not phenotype-associated VAR_049844 commonName VAR_049844 VAR_049844 disease not phenotype-associated VAR_049845 commonName VAR_049845 VAR_049845 disease not phenotype-associated VAR_049846 commonName VAR_049846 VAR_049846 disease not phenotype-associated VAR_049847 commonName VAR_049847 VAR_049847 disease not phenotype-associated VAR_049848 commonName VAR_049848 VAR_049848 disease not phenotype-associated VAR_049849 commonName VAR_049849 VAR_049849 disease not phenotype-associated VAR_049850 commonName VAR_049850 VAR_049850 disease not phenotype-associated VAR_049851 commonName VAR_049851 VAR_049851 disease not phenotype-associated VAR_049852 commonName VAR_049852 VAR_049852 disease not phenotype-associated VAR_049855 commonName VAR_049855 VAR_049855 disease not phenotype-associated VAR_049856 commonName VAR_049856 VAR_049856 disease not phenotype-associated VAR_049857 commonName VAR_049857 VAR_049857 disease not phenotype-associated VAR_049858 commonName VAR_049858 VAR_049858 disease not phenotype-associated VAR_049859 commonName VAR_049859 VAR_049859 disease not phenotype-associated VAR_049860 commonName VAR_049860 VAR_049860 disease not phenotype-associated VAR_049861 commonName VAR_049861 VAR_049861 disease not phenotype-associated VAR_049862 commonName VAR_049862 VAR_049862 disease not phenotype-associated VAR_049863 commonName VAR_049863 VAR_049863 disease not phenotype-associated VAR_049864 commonName VAR_049864 VAR_049864 disease not phenotype-associated VAR_049865 commonName VAR_049865 VAR_049865 disease not phenotype-associated VAR_049866 commonName VAR_049866 VAR_049866 disease not phenotype-associated VAR_049868 commonName VAR_049868 VAR_049868 disease not phenotype-associated VAR_049869 commonName VAR_049869 VAR_049869 disease not phenotype-associated VAR_049870 commonName VAR_049870 VAR_049870 disease not phenotype-associated VAR_049871 commonName VAR_049871 VAR_049871 disease not phenotype-associated VAR_049872 commonName VAR_049872 VAR_049872 disease not phenotype-associated VAR_049873 commonName VAR_049873 VAR_049873 disease not phenotype-associated VAR_049874 commonName VAR_049874 VAR_049874 disease not phenotype-associated VAR_049875 commonName VAR_049875 VAR_049875 disease not phenotype-associated VAR_049876 commonName VAR_049876 VAR_049876 disease not phenotype-associated VAR_049877 commonName VAR_049877 VAR_049877 disease not phenotype-associated VAR_049878 commonName VAR_049878 VAR_049878 disease not phenotype-associated VAR_049879 commonName VAR_049879 VAR_049879 disease not phenotype-associated VAR_049880 commonName VAR_049880 VAR_049880 disease not phenotype-associated VAR_049881 commonName VAR_049881 VAR_049881 disease not phenotype-associated VAR_049882 commonName VAR_049882 VAR_049882 disease not phenotype-associated VAR_049883 commonName VAR_049883 VAR_049883 disease not phenotype-associated VAR_049884 commonName VAR_049884 VAR_049884 disease not phenotype-associated VAR_049885 commonName VAR_049885 VAR_049885 disease not phenotype-associated VAR_049886 commonName VAR_049886 VAR_049886 disease not phenotype-associated VAR_049887 commonName VAR_049887 VAR_049887 disease not phenotype-associated VAR_049888 commonName VAR_049888 VAR_049888 disease not phenotype-associated VAR_049889 commonName VAR_049889 VAR_049889 disease not phenotype-associated VAR_049891 commonName VAR_049891 VAR_049891 disease not phenotype-associated VAR_049892 commonName VAR_049892 VAR_049892 disease not phenotype-associated VAR_049893 commonName VAR_049893 VAR_049893 disease not phenotype-associated VAR_049894 commonName VAR_049894 VAR_049894 disease not phenotype-associated VAR_049895 commonName VAR_049895 VAR_049895 disease not phenotype-associated VAR_049896 commonName VAR_049896 VAR_049896 disease not phenotype-associated VAR_049897 commonName VAR_049897 VAR_049897 disease not phenotype-associated VAR_049898 commonName VAR_049898 VAR_049898 disease not phenotype-associated VAR_049899 commonName VAR_049899 VAR_049899 disease not phenotype-associated VAR_049900 commonName VAR_049900 VAR_049900 disease not phenotype-associated VAR_049901 commonName VAR_049901 VAR_049901 disease not phenotype-associated VAR_049902 commonName VAR_049902 VAR_049902 disease not phenotype-associated VAR_049903 commonName VAR_049903 VAR_049903 disease not phenotype-associated VAR_049904 commonName VAR_049904 VAR_049904 disease not phenotype-associated VAR_049905 commonName VAR_049905 VAR_049905 disease not phenotype-associated VAR_049906 commonName VAR_049906 VAR_049906 disease not phenotype-associated VAR_049907 commonName VAR_049907 VAR_049907 disease not phenotype-associated VAR_049908 commonName VAR_049908 VAR_049908 disease not phenotype-associated VAR_049909 commonName VAR_049909 VAR_049909 disease not phenotype-associated VAR_049910 commonName VAR_049910 VAR_049910 disease not phenotype-associated VAR_049911 commonName VAR_049911 VAR_049911 disease not phenotype-associated VAR_049912 commonName VAR_049912 VAR_049912 disease not phenotype-associated VAR_049913 commonName VAR_049913 VAR_049913 disease not phenotype-associated VAR_049914 commonName VAR_049914 VAR_049914 disease not phenotype-associated VAR_049915 commonName VAR_049915 VAR_049915 disease not phenotype-associated VAR_049916 commonName VAR_049916 VAR_049916 disease not phenotype-associated VAR_049917 commonName VAR_049917 VAR_049917 disease not phenotype-associated VAR_049918 commonName VAR_049918 VAR_049918 disease not phenotype-associated VAR_049919 commonName VAR_049919 VAR_049919 disease not phenotype-associated VAR_049920 commonName VAR_049920 VAR_049920 disease not phenotype-associated VAR_049921 commonName VAR_049921 VAR_049921 disease not phenotype-associated VAR_049922 commonName VAR_049922 VAR_049922 disease not phenotype-associated VAR_049923 commonName VAR_049923 VAR_049923 disease not phenotype-associated VAR_049924 commonName VAR_049924 VAR_049924 disease not phenotype-associated VAR_049928 commonName VAR_049928 VAR_049928 disease not phenotype-associated VAR_049929 commonName VAR_049929 VAR_049929 disease not phenotype-associated VAR_049930 commonName VAR_049930 VAR_049930 disease not phenotype-associated VAR_049931 commonName VAR_049931 VAR_049931 disease not phenotype-associated VAR_049932 commonName VAR_049932 VAR_049932 disease not phenotype-associated VAR_049933 commonName VAR_049933 VAR_049933 disease not phenotype-associated VAR_049936 commonName VAR_049936 VAR_049936 disease not phenotype-associated VAR_049937 commonName VAR_049937 VAR_049937 disease not phenotype-associated VAR_049938 commonName VAR_049938 VAR_049938 disease not phenotype-associated VAR_049939 commonName VAR_049939 VAR_049939 disease not phenotype-associated VAR_049940 commonName VAR_049940 VAR_049940 disease not phenotype-associated VAR_049941 commonName VAR_049941 VAR_049941 disease not phenotype-associated VAR_049942 commonName VAR_049942 VAR_049942 disease not phenotype-associated VAR_049943 commonName VAR_049943 VAR_049943 disease not phenotype-associated VAR_049944 commonName VAR_049944 VAR_049944 disease not phenotype-associated VAR_049945 commonName VAR_049945 VAR_049945 disease not phenotype-associated VAR_049946 commonName VAR_049946 VAR_049946 disease not phenotype-associated VAR_049947 commonName VAR_049947 VAR_049947 disease not phenotype-associated VAR_049948 commonName VAR_049948 VAR_049948 disease not phenotype-associated VAR_049949 commonName VAR_049949 VAR_049949 disease not phenotype-associated VAR_049950 commonName VAR_049950 VAR_049950 disease not phenotype-associated VAR_049951 commonName VAR_049951 VAR_049951 disease not phenotype-associated VAR_049952 commonName VAR_049952 VAR_049952 disease not phenotype-associated VAR_049953 commonName VAR_049953 VAR_049953 disease not phenotype-associated VAR_049954 commonName VAR_049954 VAR_049954 disease not phenotype-associated VAR_049955 commonName VAR_049955 VAR_049955 disease not phenotype-associated VAR_049956 commonName VAR_049956 VAR_049956 disease not phenotype-associated VAR_049957 commonName VAR_049957 VAR_049957 disease not phenotype-associated VAR_049958 commonName VAR_049958 VAR_049958 disease not phenotype-associated VAR_049960 commonName VAR_049960 VAR_049960 disease not phenotype-associated VAR_049961 commonName VAR_049961 VAR_049961 disease not phenotype-associated VAR_049962 commonName VAR_049962 VAR_049962 disease not phenotype-associated VAR_049963 commonName VAR_049963 VAR_049963 disease not phenotype-associated VAR_049964 commonName VAR_049964 VAR_049964 disease not phenotype-associated VAR_049965 commonName VAR_049965 VAR_049965 disease not phenotype-associated VAR_049966 commonName VAR_049966 VAR_049966 disease not phenotype-associated VAR_049967 commonName VAR_049967 VAR_049967 disease not phenotype-associated VAR_049970 commonName VAR_049970 VAR_049970 disease not phenotype-associated VAR_049971 commonName VAR_049971 VAR_049971 disease not phenotype-associated VAR_049972 commonName VAR_049972 VAR_049972 disease not phenotype-associated VAR_049973 commonName VAR_049973 VAR_049973 disease not phenotype-associated VAR_049974 commonName VAR_049974 VAR_049974 disease not phenotype-associated VAR_049975 commonName VAR_049975 VAR_049975 disease not phenotype-associated VAR_049978 commonName VAR_049978 VAR_049978 disease not phenotype-associated VAR_049979 commonName VAR_049979 VAR_049979 disease not phenotype-associated VAR_049980 commonName VAR_049980 VAR_049980 disease not phenotype-associated VAR_049981 commonName VAR_049981 VAR_049981 disease not phenotype-associated VAR_049982 commonName VAR_049982 VAR_049982 disease not phenotype-associated VAR_049983 commonName VAR_049983 VAR_049983 disease not phenotype-associated VAR_049984 commonName VAR_049984 VAR_049984 disease not phenotype-associated VAR_049985 commonName VAR_049985 VAR_049985 disease not phenotype-associated VAR_049986 commonName VAR_049986 VAR_049986 disease not phenotype-associated VAR_049987 commonName VAR_049987 VAR_049987 disease not phenotype-associated VAR_049988 commonName VAR_049988 VAR_049988 disease not phenotype-associated VAR_049989 commonName VAR_049989 VAR_049989 disease not phenotype-associated VAR_049990 commonName VAR_049990 VAR_049990 disease not phenotype-associated VAR_049991 commonName VAR_049991 VAR_049991 disease not phenotype-associated VAR_049992 commonName VAR_049992 VAR_049992 disease not phenotype-associated VAR_049994 commonName VAR_049994 VAR_049994 disease not phenotype-associated VAR_049995 commonName VAR_049995 VAR_049995 disease not phenotype-associated VAR_049996 commonName VAR_049996 VAR_049996 disease not phenotype-associated VAR_049997 commonName VAR_049997 VAR_049997 disease not phenotype-associated VAR_049998 commonName VAR_049998 VAR_049998 disease not phenotype-associated VAR_050000 commonName VAR_050000 VAR_050000 disease not phenotype-associated VAR_050001 commonName VAR_050001 VAR_050001 disease not phenotype-associated VAR_050002 commonName VAR_050002 VAR_050002 disease not phenotype-associated VAR_050003 commonName VAR_050003 VAR_050003 disease not phenotype-associated VAR_050004 commonName VAR_050004 VAR_050004 disease not phenotype-associated VAR_050005 commonName VAR_050005 VAR_050005 disease not phenotype-associated VAR_050007 commonName VAR_050007 VAR_050007 disease not phenotype-associated VAR_050008 commonName VAR_050008 VAR_050008 disease not phenotype-associated VAR_050009 commonName VAR_050009 VAR_050009 disease not phenotype-associated VAR_050010 commonName VAR_050010 VAR_050010 disease not phenotype-associated VAR_050012 commonName VAR_050012 VAR_050012 disease not phenotype-associated VAR_050013 commonName VAR_050013 VAR_050013 disease not phenotype-associated VAR_050015 commonName VAR_050015 VAR_050015 disease not phenotype-associated VAR_050016 commonName VAR_050016 VAR_050016 disease not phenotype-associated VAR_050017 commonName VAR_050017 VAR_050017 disease not phenotype-associated VAR_050018 commonName VAR_050018 VAR_050018 disease not phenotype-associated VAR_050019 commonName VAR_050019 VAR_050019 disease not phenotype-associated VAR_050020 commonName VAR_050020 VAR_050020 disease not phenotype-associated VAR_050021 commonName VAR_050021 VAR_050021 disease not phenotype-associated VAR_050022 commonName VAR_050022 VAR_050022 disease not phenotype-associated VAR_050023 commonName VAR_050023 VAR_050023 disease not phenotype-associated VAR_050024 commonName VAR_050024 VAR_050024 disease not phenotype-associated VAR_050025 commonName VAR_050025 VAR_050025 disease not phenotype-associated VAR_050027 commonName VAR_050027 VAR_050027 disease not phenotype-associated VAR_050028 commonName VAR_050028 VAR_050028 disease not phenotype-associated VAR_050029 commonName VAR_050029 VAR_050029 disease not phenotype-associated VAR_050030 commonName VAR_050030 VAR_050030 disease not phenotype-associated VAR_050031 commonName VAR_050031 VAR_050031 disease not phenotype-associated VAR_050032 commonName VAR_050032 VAR_050032 disease not phenotype-associated VAR_050033 commonName VAR_050033 VAR_050033 disease not phenotype-associated VAR_050037 commonName VAR_050037 VAR_050037 disease not phenotype-associated VAR_050038 commonName VAR_050038 VAR_050038 disease not phenotype-associated VAR_050039 commonName VAR_050039 VAR_050039 disease not phenotype-associated VAR_050040 commonName VAR_050040 VAR_050040 disease not phenotype-associated VAR_050041 commonName VAR_050041 VAR_050041 disease not phenotype-associated VAR_050042 commonName VAR_050042 VAR_050042 disease not phenotype-associated VAR_050043 commonName VAR_050043 VAR_050043 disease not phenotype-associated VAR_050044 commonName VAR_050044 VAR_050044 disease not phenotype-associated VAR_050045 commonName VAR_050045 VAR_050045 disease not phenotype-associated VAR_050046 commonName VAR_050046 VAR_050046 disease not phenotype-associated VAR_050047 commonName VAR_050047 VAR_050047 disease not phenotype-associated VAR_050048 commonName VAR_050048 VAR_050048 disease not phenotype-associated VAR_050049 commonName VAR_050049 VAR_050049 disease not phenotype-associated VAR_050050 commonName VAR_050050 VAR_050050 disease not phenotype-associated VAR_050051 commonName VAR_050051 VAR_050051 disease not phenotype-associated VAR_050052 commonName VAR_050052 VAR_050052 disease not phenotype-associated VAR_050053 commonName VAR_050053 VAR_050053 disease not phenotype-associated VAR_050054 commonName VAR_050054 VAR_050054 disease not phenotype-associated VAR_050055 commonName VAR_050055 VAR_050055 disease not phenotype-associated VAR_050056 commonName VAR_050056 VAR_050056 disease not phenotype-associated VAR_050057 commonName VAR_050057 VAR_050057 disease not phenotype-associated VAR_050058 commonName VAR_050058 VAR_050058 disease not phenotype-associated VAR_050059 commonName VAR_050059 VAR_050059 disease not phenotype-associated VAR_050060 commonName VAR_050060 VAR_050060 disease not phenotype-associated VAR_050061 commonName VAR_050061 VAR_050061 disease not phenotype-associated VAR_050062 commonName VAR_050062 VAR_050062 disease not phenotype-associated VAR_050063 commonName VAR_050063 VAR_050063 disease not phenotype-associated VAR_050065 commonName VAR_050065 VAR_050065 disease not phenotype-associated VAR_050066 commonName VAR_050066 VAR_050066 disease not phenotype-associated VAR_050067 commonName VAR_050067 VAR_050067 disease not phenotype-associated VAR_050068 commonName VAR_050068 VAR_050068 disease not phenotype-associated VAR_050069 commonName VAR_050069 VAR_050069 disease not phenotype-associated VAR_050070 commonName VAR_050070 VAR_050070 disease not phenotype-associated VAR_050071 commonName VAR_050071 VAR_050071 disease not phenotype-associated VAR_050072 commonName VAR_050072 VAR_050072 disease not phenotype-associated VAR_050076 commonName VAR_050076 VAR_050076 disease not phenotype-associated VAR_050077 commonName VAR_050077 VAR_050077 disease not phenotype-associated VAR_050078 commonName VAR_050078 VAR_050078 disease not phenotype-associated VAR_050079 commonName VAR_050079 VAR_050079 disease not phenotype-associated VAR_050080 commonName VAR_050080 VAR_050080 disease not phenotype-associated VAR_050081 commonName VAR_050081 VAR_050081 disease not phenotype-associated VAR_050082 commonName VAR_050082 VAR_050082 disease not phenotype-associated VAR_050083 commonName VAR_050083 VAR_050083 disease not phenotype-associated VAR_050084 commonName VAR_050084 VAR_050084 disease not phenotype-associated VAR_050085 commonName VAR_050085 VAR_050085 disease not phenotype-associated VAR_050086 commonName VAR_050086 VAR_050086 disease not phenotype-associated VAR_050087 commonName VAR_050087 VAR_050087 disease not phenotype-associated VAR_050088 commonName VAR_050088 VAR_050088 disease not phenotype-associated VAR_050089 commonName VAR_050089 VAR_050089 disease not phenotype-associated VAR_050090 commonName VAR_050090 VAR_050090 disease not phenotype-associated VAR_050091 commonName VAR_050091 VAR_050091 disease not phenotype-associated VAR_050092 commonName VAR_050092 VAR_050092 disease not phenotype-associated VAR_050093 commonName VAR_050093 VAR_050093 disease not phenotype-associated VAR_050094 commonName VAR_050094 VAR_050094 disease not phenotype-associated VAR_050095 commonName VAR_050095 VAR_050095 disease not phenotype-associated VAR_050096 commonName VAR_050096 VAR_050096 disease not phenotype-associated VAR_050097 commonName VAR_050097 VAR_050097 disease not phenotype-associated VAR_050099 commonName VAR_050099 VAR_050099 disease not phenotype-associated VAR_050100 commonName VAR_050100 VAR_050100 disease not phenotype-associated VAR_050102 commonName VAR_050102 VAR_050102 disease not phenotype-associated VAR_050103 commonName VAR_050103 VAR_050103 disease not phenotype-associated VAR_050104 commonName VAR_050104 VAR_050104 disease not phenotype-associated VAR_050105 commonName VAR_050105 VAR_050105 disease not phenotype-associated VAR_050106 commonName VAR_050106 VAR_050106 disease not phenotype-associated VAR_050110 commonName VAR_050110 VAR_050110 disease not phenotype-associated VAR_050111 commonName VAR_050111 VAR_050111 disease not phenotype-associated VAR_050112 commonName VAR_050112 VAR_050112 disease not phenotype-associated VAR_050113 commonName VAR_050113 VAR_050113 disease not phenotype-associated VAR_050114 commonName VAR_050114 VAR_050114 disease not phenotype-associated VAR_050115 commonName VAR_050115 VAR_050115 disease not phenotype-associated VAR_050116 commonName VAR_050116 VAR_050116 disease not phenotype-associated VAR_050117 commonName VAR_050117 VAR_050117 disease not phenotype-associated VAR_050118 commonName VAR_050118 VAR_050118 disease not phenotype-associated VAR_050119 commonName VAR_050119 VAR_050119 disease not phenotype-associated VAR_050120 commonName VAR_050120 VAR_050120 disease not phenotype-associated VAR_050121 commonName VAR_050121 VAR_050121 disease not phenotype-associated VAR_050122 commonName VAR_050122 VAR_050122 disease not phenotype-associated VAR_050123 commonName VAR_050123 VAR_050123 disease not phenotype-associated VAR_050124 commonName VAR_050124 VAR_050124 disease not phenotype-associated VAR_050125 commonName VAR_050125 VAR_050125 disease not phenotype-associated VAR_050126 commonName VAR_050126 VAR_050126 disease not phenotype-associated VAR_050127 commonName VAR_050127 VAR_050127 disease not phenotype-associated VAR_050128 commonName VAR_050128 VAR_050128 disease not phenotype-associated VAR_050130 commonName VAR_050130 VAR_050130 disease not phenotype-associated VAR_050131 commonName VAR_050131 VAR_050131 disease not phenotype-associated VAR_050132 commonName VAR_050132 VAR_050132 disease not phenotype-associated VAR_050134 commonName VAR_050134 VAR_050134 disease not phenotype-associated VAR_050136 commonName VAR_050136 VAR_050136 disease not phenotype-associated VAR_050137 commonName VAR_050137 VAR_050137 disease not phenotype-associated VAR_050138 commonName VAR_050138 VAR_050138 disease not phenotype-associated VAR_050139 commonName VAR_050139 VAR_050139 disease not phenotype-associated VAR_050141 commonName VAR_050141 VAR_050141 disease not phenotype-associated VAR_050142 commonName VAR_050142 VAR_050142 disease not phenotype-associated VAR_050143 commonName VAR_050143 VAR_050143 disease not phenotype-associated VAR_050144 commonName VAR_050144 VAR_050144 disease not phenotype-associated VAR_050145 commonName VAR_050145 VAR_050145 disease not phenotype-associated VAR_050146 commonName VAR_050146 VAR_050146 disease not phenotype-associated VAR_050147 commonName VAR_050147 VAR_050147 disease not phenotype-associated VAR_050148 commonName VAR_050148 VAR_050148 disease not phenotype-associated VAR_050149 commonName VAR_050149 VAR_050149 disease not phenotype-associated VAR_050150 commonName VAR_050150 VAR_050150 disease not phenotype-associated VAR_050151 commonName VAR_050151 VAR_050151 disease not phenotype-associated VAR_050152 commonName VAR_050152 VAR_050152 disease not phenotype-associated VAR_050153 commonName VAR_050153 VAR_050153 disease not phenotype-associated VAR_050154 commonName VAR_050154 VAR_050154 disease not phenotype-associated VAR_050155 commonName VAR_050155 VAR_050155 disease not phenotype-associated VAR_050156 commonName VAR_050156 VAR_050156 disease not phenotype-associated VAR_050158 commonName VAR_050158 VAR_050158 disease not phenotype-associated VAR_050159 commonName VAR_050159 VAR_050159 disease not phenotype-associated VAR_050160 commonName VAR_050160 VAR_050160 disease not phenotype-associated VAR_050161 commonName VAR_050161 VAR_050161 disease not phenotype-associated VAR_050162 commonName VAR_050162 VAR_050162 disease not phenotype-associated VAR_050163 commonName VAR_050163 VAR_050163 disease not phenotype-associated VAR_050164 commonName VAR_050164 VAR_050164 disease not phenotype-associated VAR_050165 commonName VAR_050165 VAR_050165 disease not phenotype-associated VAR_050166 commonName VAR_050166 VAR_050166 disease not phenotype-associated VAR_050167 commonName VAR_050167 VAR_050167 disease not phenotype-associated VAR_050168 commonName VAR_050168 VAR_050168 disease not phenotype-associated VAR_050169 commonName VAR_050169 VAR_050169 disease not phenotype-associated VAR_050170 commonName VAR_050170 VAR_050170 disease not phenotype-associated VAR_050171 commonName VAR_050171 VAR_050171 disease not phenotype-associated VAR_050172 commonName VAR_050172 VAR_050172 disease not phenotype-associated VAR_050173 commonName VAR_050173 VAR_050173 disease not phenotype-associated VAR_050174 commonName VAR_050174 VAR_050174 disease not phenotype-associated VAR_050175 commonName VAR_050175 VAR_050175 disease not phenotype-associated VAR_050176 commonName VAR_050176 VAR_050176 disease not phenotype-associated VAR_050178 commonName VAR_050178 VAR_050178 disease not phenotype-associated VAR_050181 commonName VAR_050181 VAR_050181 disease not phenotype-associated VAR_050182 commonName VAR_050182 VAR_050182 disease not phenotype-associated VAR_050183 commonName VAR_050183 VAR_050183 disease not phenotype-associated VAR_050184 commonName VAR_050184 VAR_050184 disease not phenotype-associated VAR_050185 commonName VAR_050185 VAR_050185 disease not phenotype-associated VAR_050186 commonName VAR_050186 VAR_050186 disease not phenotype-associated VAR_050187 commonName VAR_050187 VAR_050187 disease not phenotype-associated VAR_050188 commonName VAR_050188 VAR_050188 disease not phenotype-associated VAR_050189 commonName VAR_050189 VAR_050189 disease not phenotype-associated VAR_050190 commonName VAR_050190 VAR_050190 disease not phenotype-associated VAR_050191 commonName VAR_050191 VAR_050191 disease not phenotype-associated VAR_050192 commonName VAR_050192 VAR_050192 disease not phenotype-associated VAR_050193 commonName VAR_050193 VAR_050193 disease not phenotype-associated VAR_050194 commonName VAR_050194 VAR_050194 disease not phenotype-associated VAR_050195 commonName VAR_050195 VAR_050195 disease not phenotype-associated VAR_050196 commonName VAR_050196 VAR_050196 disease not phenotype-associated VAR_050197 commonName VAR_050197 VAR_050197 disease not phenotype-associated VAR_050198 commonName VAR_050198 VAR_050198 disease not phenotype-associated VAR_050199 commonName VAR_050199 VAR_050199 disease not phenotype-associated VAR_050200 commonName VAR_050200 VAR_050200 disease not phenotype-associated VAR_050201 commonName VAR_050201 VAR_050201 disease not phenotype-associated VAR_050202 commonName VAR_050202 VAR_050202 disease not phenotype-associated VAR_050203 commonName VAR_050203 VAR_050203 disease not phenotype-associated VAR_050204 commonName VAR_050204 VAR_050204 disease not phenotype-associated VAR_050205 commonName VAR_050205 VAR_050205 disease not phenotype-associated VAR_050206 commonName VAR_050206 VAR_050206 disease not phenotype-associated VAR_050207 commonName VAR_050207 VAR_050207 disease not phenotype-associated VAR_050208 commonName VAR_050208 VAR_050208 disease not phenotype-associated VAR_050210 commonName VAR_050210 VAR_050210 disease not phenotype-associated VAR_050211 commonName VAR_050211 VAR_050211 disease not phenotype-associated VAR_050214 commonName VAR_050214 VAR_050214 disease not phenotype-associated VAR_050215 commonName VAR_050215 VAR_050215 disease not phenotype-associated VAR_050216 commonName VAR_050216 VAR_050216 disease not phenotype-associated VAR_050217 commonName VAR_050217 VAR_050217 disease not phenotype-associated VAR_050218 commonName VAR_050218 VAR_050218 disease not phenotype-associated VAR_050219 commonName VAR_050219 VAR_050219 disease not phenotype-associated VAR_050220 commonName VAR_050220 VAR_050220 disease not phenotype-associated VAR_050221 commonName VAR_050221 VAR_050221 disease not phenotype-associated VAR_050222 commonName VAR_050222 VAR_050222 disease not phenotype-associated VAR_050223 commonName VAR_050223 VAR_050223 disease not phenotype-associated VAR_050224 commonName VAR_050224 VAR_050224 disease not phenotype-associated VAR_050226 commonName VAR_050226 VAR_050226 disease not phenotype-associated VAR_050227 commonName VAR_050227 VAR_050227 disease not phenotype-associated VAR_050228 commonName VAR_050228 VAR_050228 disease not phenotype-associated VAR_050229 commonName VAR_050229 VAR_050229 disease not phenotype-associated VAR_050230 commonName VAR_050230 VAR_050230 disease not phenotype-associated VAR_050232 commonName VAR_050232 VAR_050232 disease not phenotype-associated VAR_050233 commonName VAR_050233 VAR_050233 disease not phenotype-associated VAR_050234 commonName VAR_050234 VAR_050234 disease not phenotype-associated VAR_050235 commonName VAR_050235 VAR_050235 disease not phenotype-associated VAR_050236 commonName VAR_050236 VAR_050236 disease not phenotype-associated VAR_050237 commonName VAR_050237 VAR_050237 disease not phenotype-associated VAR_050238 commonName VAR_050238 VAR_050238 disease not phenotype-associated VAR_050239 commonName VAR_050239 VAR_050239 disease not phenotype-associated VAR_050240 commonName VAR_050240 VAR_050240 disease not phenotype-associated VAR_050241 commonName VAR_050241 VAR_050241 disease not phenotype-associated VAR_050242 commonName VAR_050242 VAR_050242 disease not phenotype-associated VAR_050243 commonName VAR_050243 VAR_050243 disease not phenotype-associated VAR_050244 commonName VAR_050244 VAR_050244 disease not phenotype-associated VAR_050245 commonName VAR_050245 VAR_050245 disease not phenotype-associated VAR_050246 commonName VAR_050246 VAR_050246 disease not phenotype-associated VAR_050247 commonName VAR_050247 VAR_050247 disease not phenotype-associated VAR_050248 commonName VAR_050248 VAR_050248 disease not phenotype-associated VAR_050249 commonName VAR_050249 VAR_050249 disease not phenotype-associated VAR_050250 commonName VAR_050250 VAR_050250 disease not phenotype-associated VAR_050251 commonName VAR_050251 VAR_050251 disease not phenotype-associated VAR_050252 commonName VAR_050252 VAR_050252 disease not phenotype-associated VAR_050253 commonName VAR_050253 VAR_050253 disease not phenotype-associated VAR_050254 commonName VAR_050254 VAR_050254 disease not phenotype-associated VAR_050255 commonName VAR_050255 VAR_050255 disease not phenotype-associated VAR_050256 commonName VAR_050256 VAR_050256 disease not phenotype-associated VAR_050257 commonName VAR_050257 VAR_050257 disease not phenotype-associated VAR_050258 commonName VAR_050258 VAR_050258 disease not phenotype-associated VAR_050259 commonName VAR_050259 VAR_050259 disease not phenotype-associated VAR_050260 commonName VAR_050260 VAR_050260 disease not phenotype-associated VAR_050261 commonName VAR_050261 VAR_050261 disease not phenotype-associated VAR_050262 commonName VAR_050262 VAR_050262 disease not phenotype-associated VAR_050263 commonName VAR_050263 VAR_050263 disease not phenotype-associated VAR_050264 commonName VAR_050264 VAR_050264 disease not phenotype-associated VAR_050265 commonName VAR_050265 VAR_050265 disease not phenotype-associated VAR_050266 commonName VAR_050266 VAR_050266 disease not phenotype-associated VAR_050267 commonName VAR_050267 VAR_050267 disease not phenotype-associated VAR_050268 commonName VAR_050268 VAR_050268 disease not phenotype-associated VAR_050269 commonName VAR_050269 VAR_050269 disease not phenotype-associated VAR_050270 commonName VAR_050270 VAR_050270 disease not phenotype-associated VAR_050271 commonName VAR_050271 VAR_050271 disease not phenotype-associated VAR_050272 commonName VAR_050272 VAR_050272 disease not phenotype-associated VAR_050273 commonName VAR_050273 VAR_050273 disease not phenotype-associated VAR_050274 commonName VAR_050274 VAR_050274 disease not phenotype-associated VAR_050275 commonName VAR_050275 VAR_050275 disease not phenotype-associated VAR_050276 commonName VAR_050276 VAR_050276 disease not phenotype-associated VAR_050277 commonName VAR_050277 VAR_050277 disease not phenotype-associated VAR_050278 commonName VAR_050278 VAR_050278 disease not phenotype-associated VAR_050279 commonName VAR_050279 VAR_050279 disease not phenotype-associated VAR_050280 commonName VAR_050280 VAR_050280 disease not phenotype-associated VAR_050281 commonName VAR_050281 VAR_050281 disease not phenotype-associated VAR_050282 commonName VAR_050282 VAR_050282 disease not phenotype-associated VAR_050283 commonName VAR_050283 VAR_050283 disease not phenotype-associated VAR_050284 commonName VAR_050284 VAR_050284 disease not phenotype-associated VAR_050285 commonName VAR_050285 VAR_050285 disease not phenotype-associated VAR_050286 commonName VAR_050286 VAR_050286 disease not phenotype-associated VAR_050287 commonName VAR_050287 VAR_050287 disease not phenotype-associated VAR_050288 commonName VAR_050288 VAR_050288 disease not phenotype-associated VAR_050289 commonName VAR_050289 VAR_050289 disease not phenotype-associated VAR_050290 commonName VAR_050290 VAR_050290 disease not phenotype-associated VAR_050291 commonName VAR_050291 VAR_050291 disease not phenotype-associated VAR_050292 commonName VAR_050292 VAR_050292 disease not phenotype-associated VAR_050293 commonName VAR_050293 VAR_050293 disease not phenotype-associated VAR_050294 commonName VAR_050294 VAR_050294 disease not phenotype-associated VAR_050295 commonName VAR_050295 VAR_050295 disease not phenotype-associated VAR_050296 commonName VAR_050296 VAR_050296 disease not phenotype-associated VAR_050297 commonName VAR_050297 VAR_050297 disease not phenotype-associated VAR_050298 commonName VAR_050298 VAR_050298 disease not phenotype-associated VAR_050299 commonName VAR_050299 VAR_050299 disease not phenotype-associated VAR_050300 commonName VAR_050300 VAR_050300 disease not phenotype-associated VAR_050301 commonName VAR_050301 VAR_050301 disease not phenotype-associated VAR_050302 commonName VAR_050302 VAR_050302 disease not phenotype-associated VAR_050303 commonName VAR_050303 VAR_050303 disease not phenotype-associated VAR_050304 commonName VAR_050304 VAR_050304 disease not phenotype-associated VAR_050305 commonName VAR_050305 VAR_050305 disease not phenotype-associated VAR_050306 commonName VAR_050306 VAR_050306 disease not phenotype-associated VAR_050307 commonName VAR_050307 VAR_050307 disease not phenotype-associated VAR_050308 commonName VAR_050308 VAR_050308 disease not phenotype-associated VAR_050309 commonName VAR_050309 VAR_050309 disease not phenotype-associated VAR_050355 commonName VAR_050355 VAR_050355 disease not phenotype-associated VAR_050356 commonName VAR_050356 VAR_050356 disease not phenotype-associated VAR_050357 commonName VAR_050357 VAR_050357 disease not phenotype-associated VAR_050358 commonName VAR_050358 VAR_050358 disease not phenotype-associated VAR_050359 commonName VAR_050359 VAR_050359 disease not phenotype-associated VAR_050407 commonName VAR_050407 VAR_050407 disease not phenotype-associated VAR_050408 commonName VAR_050408 VAR_050408 disease not phenotype-associated VAR_050409 commonName VAR_050409 VAR_050409 disease not phenotype-associated VAR_050410 commonName VAR_050410 VAR_050410 disease not phenotype-associated VAR_050411 commonName VAR_050411 VAR_050411 disease not phenotype-associated VAR_050412 commonName VAR_050412 VAR_050412 disease not phenotype-associated VAR_050414 commonName VAR_050414 VAR_050414 disease not phenotype-associated VAR_050415 commonName VAR_050415 VAR_050415 disease not phenotype-associated VAR_050416 commonName VAR_050416 VAR_050416 disease not phenotype-associated VAR_050417 commonName VAR_050417 VAR_050417 disease not phenotype-associated VAR_050418 commonName VAR_050418 VAR_050418 disease not phenotype-associated VAR_050419 commonName VAR_050419 VAR_050419 disease not phenotype-associated VAR_050420 commonName VAR_050420 VAR_050420 disease not phenotype-associated VAR_050421 commonName VAR_050421 VAR_050421 disease not phenotype-associated VAR_050422 commonName VAR_050422 VAR_050422 disease not phenotype-associated VAR_050423 commonName VAR_050423 VAR_050423 disease not phenotype-associated VAR_050424 commonName VAR_050424 VAR_050424 disease not phenotype-associated VAR_050425 commonName VAR_050425 VAR_050425 disease not phenotype-associated VAR_050426 commonName VAR_050426 VAR_050426 disease not phenotype-associated VAR_050427 commonName VAR_050427 VAR_050427 disease not phenotype-associated VAR_050428 commonName VAR_050428 VAR_050428 disease not phenotype-associated VAR_050429 commonName VAR_050429 VAR_050429 disease not phenotype-associated VAR_050430 commonName VAR_050430 VAR_050430 disease not phenotype-associated VAR_050431 commonName VAR_050431 VAR_050431 disease not phenotype-associated VAR_050432 commonName VAR_050432 VAR_050432 disease not phenotype-associated VAR_050433 commonName VAR_050433 VAR_050433 disease not phenotype-associated VAR_050434 commonName VAR_050434 VAR_050434 disease not phenotype-associated VAR_050435 commonName VAR_050435 VAR_050435 disease not phenotype-associated VAR_050436 commonName VAR_050436 VAR_050436 disease not phenotype-associated VAR_050437 commonName VAR_050437 VAR_050437 disease not phenotype-associated VAR_050438 commonName VAR_050438 VAR_050438 disease not phenotype-associated VAR_050439 commonName VAR_050439 VAR_050439 disease not phenotype-associated VAR_050440 commonName VAR_050440 VAR_050440 disease not phenotype-associated VAR_050441 commonName VAR_050441 VAR_050441 disease not phenotype-associated VAR_050442 commonName VAR_050442 VAR_050442 disease not phenotype-associated VAR_050443 commonName VAR_050443 VAR_050443 disease not phenotype-associated VAR_050444 commonName VAR_050444 VAR_050444 disease not phenotype-associated VAR_050445 commonName VAR_050445 VAR_050445 disease not phenotype-associated VAR_050448 commonName VAR_050448 VAR_050448 disease not phenotype-associated VAR_050449 commonName VAR_050449 VAR_050449 disease not phenotype-associated VAR_050450 commonName VAR_050450 VAR_050450 disease not phenotype-associated VAR_050451 commonName VAR_050451 VAR_050451 disease not phenotype-associated VAR_050452 commonName VAR_050452 VAR_050452 disease not phenotype-associated VAR_050453 commonName VAR_050453 VAR_050453 disease not phenotype-associated VAR_050454 commonName VAR_050454 VAR_050454 disease not phenotype-associated VAR_050455 commonName VAR_050455 VAR_050455 disease not phenotype-associated VAR_050456 commonName VAR_050456 VAR_050456 disease not phenotype-associated VAR_050457 commonName VAR_050457 VAR_050457 disease not phenotype-associated VAR_050458 commonName VAR_050458 VAR_050458 disease not phenotype-associated VAR_050459 commonName VAR_050459 VAR_050459 disease not phenotype-associated VAR_050460 commonName VAR_050460 VAR_050460 disease not phenotype-associated VAR_050461 commonName VAR_050461 VAR_050461 disease not phenotype-associated VAR_050462 commonName VAR_050462 VAR_050462 disease not phenotype-associated VAR_050463 commonName VAR_050463 VAR_050463 disease not phenotype-associated VAR_050464 commonName VAR_050464 VAR_050464 disease not phenotype-associated VAR_050465 commonName VAR_050465 VAR_050465 disease not phenotype-associated VAR_050467 commonName VAR_050467 VAR_050467 disease not phenotype-associated VAR_050468 commonName VAR_050468 VAR_050468 disease not phenotype-associated VAR_050469 commonName VAR_050469 VAR_050469 disease not phenotype-associated VAR_050470 commonName VAR_050470 VAR_050470 disease not phenotype-associated VAR_050472 commonName VAR_050472 VAR_050472 disease not phenotype-associated VAR_050473 commonName VAR_050473 VAR_050473 disease not phenotype-associated VAR_050474 commonName VAR_050474 VAR_050474 disease not phenotype-associated VAR_050475 commonName VAR_050475 VAR_050475 disease not phenotype-associated VAR_050476 commonName VAR_050476 VAR_050476 disease not phenotype-associated VAR_050477 commonName VAR_050477 VAR_050477 disease not phenotype-associated VAR_050478 commonName VAR_050478 VAR_050478 disease not phenotype-associated VAR_050479 commonName VAR_050479 VAR_050479 disease not phenotype-associated VAR_050480 commonName VAR_050480 VAR_050480 disease not phenotype-associated VAR_050481 commonName VAR_050481 VAR_050481 disease not phenotype-associated VAR_050482 commonName VAR_050482 VAR_050482 disease not phenotype-associated VAR_050483 commonName VAR_050483 VAR_050483 disease not phenotype-associated VAR_050484 commonName VAR_050484 VAR_050484 disease not phenotype-associated VAR_050485 commonName VAR_050485 VAR_050485 disease not phenotype-associated VAR_050486 commonName VAR_050486 VAR_050486 disease not phenotype-associated VAR_050487 commonName VAR_050487 VAR_050487 disease not phenotype-associated VAR_050488 commonName VAR_050488 VAR_050488 disease not phenotype-associated VAR_050489 commonName VAR_050489 VAR_050489 disease not phenotype-associated VAR_050490 commonName VAR_050490 VAR_050490 disease not phenotype-associated VAR_050491 commonName VAR_050491 VAR_050491 disease not phenotype-associated VAR_050492 commonName VAR_050492 VAR_050492 disease not phenotype-associated VAR_050493 commonName VAR_050493 VAR_050493 disease not phenotype-associated VAR_050494 commonName VAR_050494 VAR_050494 disease not phenotype-associated VAR_050495 commonName VAR_050495 VAR_050495 disease not phenotype-associated VAR_050496 commonName VAR_050496 VAR_050496 disease not phenotype-associated VAR_050497 commonName VAR_050497 VAR_050497 disease not phenotype-associated VAR_050498 commonName VAR_050498 VAR_050498 disease not phenotype-associated VAR_050499 commonName VAR_050499 VAR_050499 disease not phenotype-associated VAR_050500 commonName VAR_050500 VAR_050500 disease not phenotype-associated VAR_050501 commonName VAR_050501 VAR_050501 disease not phenotype-associated VAR_050502 commonName VAR_050502 VAR_050502 disease not phenotype-associated VAR_050503 commonName VAR_050503 VAR_050503 disease not phenotype-associated VAR_050504 commonName VAR_050504 VAR_050504 disease not phenotype-associated VAR_050505 commonName VAR_050505 VAR_050505 disease not phenotype-associated VAR_050506 commonName VAR_050506 VAR_050506 disease not phenotype-associated VAR_050507 commonName VAR_050507 VAR_050507 disease not phenotype-associated VAR_050508 commonName VAR_050508 VAR_050508 disease not phenotype-associated VAR_050509 commonName VAR_050509 VAR_050509 disease not phenotype-associated VAR_050510 commonName VAR_050510 VAR_050510 disease not phenotype-associated VAR_050511 commonName VAR_050511 VAR_050511 disease not phenotype-associated VAR_050513 commonName VAR_050513 VAR_050513 disease not phenotype-associated VAR_050514 commonName VAR_050514 VAR_050514 disease not phenotype-associated VAR_050515 commonName VAR_050515 VAR_050515 disease not phenotype-associated VAR_050516 commonName VAR_050516 VAR_050516 disease not phenotype-associated VAR_050517 commonName VAR_050517 VAR_050517 disease not phenotype-associated VAR_050518 commonName VAR_050518 VAR_050518 disease not phenotype-associated VAR_050520 commonName VAR_050520 VAR_050520 disease not phenotype-associated VAR_050521 commonName VAR_050521 VAR_050521 disease not phenotype-associated VAR_050522 commonName VAR_050522 VAR_050522 disease not phenotype-associated VAR_050523 commonName VAR_050523 VAR_050523 disease not phenotype-associated VAR_050524 commonName VAR_050524 VAR_050524 disease not phenotype-associated VAR_050525 commonName VAR_050525 VAR_050525 disease not phenotype-associated VAR_050526 commonName VAR_050526 VAR_050526 disease not phenotype-associated VAR_050527 commonName VAR_050527 VAR_050527 disease not phenotype-associated VAR_050528 commonName VAR_050528 VAR_050528 disease not phenotype-associated VAR_050529 commonName VAR_050529 VAR_050529 disease not phenotype-associated VAR_050530 commonName VAR_050530 VAR_050530 disease not phenotype-associated VAR_050532 commonName VAR_050532 VAR_050532 disease not phenotype-associated VAR_050533 commonName VAR_050533 VAR_050533 disease not phenotype-associated VAR_050534 commonName VAR_050534 VAR_050534 disease not phenotype-associated VAR_050535 commonName VAR_050535 VAR_050535 disease not phenotype-associated VAR_050536 commonName VAR_050536 VAR_050536 disease not phenotype-associated VAR_050537 commonName VAR_050537 VAR_050537 disease not phenotype-associated VAR_050538 commonName VAR_050538 VAR_050538 disease not phenotype-associated VAR_050539 commonName VAR_050539 VAR_050539 disease not phenotype-associated VAR_050540 commonName VAR_050540 VAR_050540 disease not phenotype-associated VAR_050543 commonName VAR_050543 VAR_050543 disease not phenotype-associated VAR_050544 commonName VAR_050544 VAR_050544 disease not phenotype-associated VAR_050545 commonName VAR_050545 VAR_050545 disease not phenotype-associated VAR_050546 commonName VAR_050546 VAR_050546 disease not phenotype-associated VAR_050547 commonName VAR_050547 VAR_050547 disease not phenotype-associated VAR_050548 commonName VAR_050548 VAR_050548 disease not phenotype-associated VAR_050549 commonName VAR_050549 VAR_050549 disease not phenotype-associated VAR_050550 commonName VAR_050550 VAR_050550 disease not phenotype-associated VAR_050551 commonName VAR_050551 VAR_050551 disease not phenotype-associated VAR_050552 commonName VAR_050552 VAR_050552 disease not phenotype-associated VAR_050553 commonName VAR_050553 VAR_050553 disease not phenotype-associated VAR_050554 commonName VAR_050554 VAR_050554 disease not phenotype-associated VAR_050555 commonName VAR_050555 VAR_050555 disease not phenotype-associated VAR_050556 commonName VAR_050556 VAR_050556 disease not phenotype-associated VAR_050557 commonName VAR_050557 VAR_050557 disease not phenotype-associated VAR_050559 commonName VAR_050559 VAR_050559 disease not phenotype-associated VAR_050560 commonName VAR_050560 VAR_050560 disease not phenotype-associated VAR_050561 commonName VAR_050561 VAR_050561 disease not phenotype-associated VAR_050562 commonName VAR_050562 VAR_050562 disease not phenotype-associated VAR_050563 commonName VAR_050563 VAR_050563 disease not phenotype-associated VAR_050565 commonName VAR_050565 VAR_050565 disease not phenotype-associated VAR_050566 commonName VAR_050566 VAR_050566 disease not phenotype-associated VAR_050567 commonName VAR_050567 VAR_050567 disease not phenotype-associated VAR_050568 commonName VAR_050568 VAR_050568 disease not phenotype-associated VAR_050569 commonName VAR_050569 VAR_050569 disease not phenotype-associated VAR_050570 commonName VAR_050570 VAR_050570 disease not phenotype-associated VAR_050571 commonName VAR_050571 VAR_050571 disease not phenotype-associated VAR_050572 commonName VAR_050572 VAR_050572 disease not phenotype-associated VAR_050573 commonName VAR_050573 VAR_050573 disease not phenotype-associated VAR_050574 commonName VAR_050574 VAR_050574 disease not phenotype-associated VAR_050575 commonName VAR_050575 VAR_050575 disease not phenotype-associated VAR_050576 commonName VAR_050576 VAR_050576 disease not phenotype-associated VAR_050577 commonName VAR_050577 VAR_050577 disease not phenotype-associated VAR_050580 commonName VAR_050580 VAR_050580 disease not phenotype-associated VAR_050581 commonName VAR_050581 VAR_050581 disease not phenotype-associated VAR_050582 commonName VAR_050582 VAR_050582 disease not phenotype-associated VAR_050584 commonName VAR_050584 VAR_050584 disease not phenotype-associated VAR_050585 commonName VAR_050585 VAR_050585 disease not phenotype-associated VAR_050586 commonName VAR_050586 VAR_050586 disease not phenotype-associated VAR_050587 commonName VAR_050587 VAR_050587 disease not phenotype-associated VAR_050588 commonName VAR_050588 VAR_050588 disease not phenotype-associated VAR_050589 commonName VAR_050589 VAR_050589 disease not phenotype-associated VAR_050590 commonName VAR_050590 VAR_050590 disease not phenotype-associated VAR_050591 commonName VAR_050591 VAR_050591 disease not phenotype-associated VAR_050592 commonName VAR_050592 VAR_050592 disease not phenotype-associated VAR_050595 commonName VAR_050595 VAR_050595 disease not phenotype-associated VAR_050596 commonName VAR_050596 VAR_050596 disease not phenotype-associated VAR_050597 commonName VAR_050597 VAR_050597 disease not phenotype-associated VAR_050598 commonName VAR_050598 VAR_050598 disease not phenotype-associated VAR_050599 commonName VAR_050599 VAR_050599 disease not phenotype-associated VAR_050600 commonName VAR_050600 VAR_050600 disease not phenotype-associated VAR_050601 commonName VAR_050601 VAR_050601 disease not phenotype-associated VAR_050602 commonName VAR_050602 VAR_050602 disease not phenotype-associated VAR_050603 commonName VAR_050603 VAR_050603 disease not phenotype-associated VAR_050604 commonName VAR_050604 VAR_050604 disease not phenotype-associated VAR_050605 commonName VAR_050605 VAR_050605 disease not phenotype-associated VAR_050606 commonName VAR_050606 VAR_050606 disease not phenotype-associated VAR_050607 commonName VAR_050607 VAR_050607 disease not phenotype-associated VAR_050608 commonName VAR_050608 VAR_050608 disease not phenotype-associated VAR_050609 commonName VAR_050609 VAR_050609 disease not phenotype-associated VAR_050610 commonName VAR_050610 VAR_050610 disease not phenotype-associated VAR_050611 commonName VAR_050611 VAR_050611 disease not phenotype-associated VAR_050612 commonName VAR_050612 VAR_050612 disease not phenotype-associated VAR_050613 commonName VAR_050613 VAR_050613 disease not phenotype-associated VAR_050614 commonName VAR_050614 VAR_050614 disease not phenotype-associated VAR_050615 commonName VAR_050615 VAR_050615 disease not phenotype-associated VAR_050616 commonName VAR_050616 VAR_050616 disease not phenotype-associated VAR_050617 commonName VAR_050617 VAR_050617 disease not phenotype-associated VAR_050618 commonName VAR_050618 VAR_050618 disease not phenotype-associated VAR_050619 commonName VAR_050619 VAR_050619 disease not phenotype-associated VAR_050620 commonName VAR_050620 VAR_050620 disease not phenotype-associated VAR_050621 commonName VAR_050621 VAR_050621 disease not phenotype-associated VAR_050623 commonName VAR_050623 VAR_050623 disease not phenotype-associated VAR_050624 commonName VAR_050624 VAR_050624 disease not phenotype-associated VAR_050625 commonName VAR_050625 VAR_050625 disease not phenotype-associated VAR_050626 commonName VAR_050626 VAR_050626 disease not phenotype-associated VAR_050627 commonName VAR_050627 VAR_050627 disease not phenotype-associated VAR_050628 commonName VAR_050628 VAR_050628 disease not phenotype-associated VAR_050629 commonName VAR_050629 VAR_050629 disease not phenotype-associated VAR_050630 commonName VAR_050630 VAR_050630 disease not phenotype-associated VAR_050631 commonName VAR_050631 VAR_050631 disease not phenotype-associated VAR_050632 commonName VAR_050632 VAR_050632 disease not phenotype-associated VAR_050633 commonName VAR_050633 VAR_050633 disease not phenotype-associated VAR_050634 commonName VAR_050634 VAR_050634 disease not phenotype-associated VAR_050635 commonName VAR_050635 VAR_050635 disease not phenotype-associated VAR_050636 commonName VAR_050636 VAR_050636 disease not phenotype-associated VAR_050637 commonName VAR_050637 VAR_050637 disease not phenotype-associated VAR_050638 commonName VAR_050638 VAR_050638 disease not phenotype-associated VAR_050639 commonName VAR_050639 VAR_050639 disease not phenotype-associated VAR_050640 commonName VAR_050640 VAR_050640 disease not phenotype-associated VAR_050641 commonName VAR_050641 VAR_050641 disease not phenotype-associated VAR_050642 commonName VAR_050642 VAR_050642 disease not phenotype-associated VAR_050643 commonName VAR_050643 VAR_050643 disease not phenotype-associated VAR_050644 commonName VAR_050644 VAR_050644 disease not phenotype-associated VAR_050645 commonName VAR_050645 VAR_050645 disease not phenotype-associated VAR_050646 commonName VAR_050646 VAR_050646 disease not phenotype-associated VAR_050647 commonName VAR_050647 VAR_050647 disease not phenotype-associated VAR_050648 commonName VAR_050648 VAR_050648 disease not phenotype-associated VAR_050650 commonName VAR_050650 VAR_050650 disease not phenotype-associated VAR_050651 commonName VAR_050651 VAR_050651 disease not phenotype-associated VAR_050652 commonName VAR_050652 VAR_050652 disease not phenotype-associated VAR_050653 commonName VAR_050653 VAR_050653 disease not phenotype-associated VAR_050654 commonName VAR_050654 VAR_050654 disease not phenotype-associated VAR_050655 commonName VAR_050655 VAR_050655 disease not phenotype-associated VAR_050656 commonName VAR_050656 VAR_050656 disease not phenotype-associated VAR_050657 commonName VAR_050657 VAR_050657 disease not phenotype-associated VAR_050658 commonName VAR_050658 VAR_050658 disease not phenotype-associated VAR_050659 commonName VAR_050659 VAR_050659 disease not phenotype-associated VAR_050660 commonName VAR_050660 VAR_050660 disease not phenotype-associated VAR_050661 commonName VAR_050661 VAR_050661 disease not phenotype-associated VAR_050662 commonName VAR_050662 VAR_050662 disease not phenotype-associated VAR_050663 commonName VAR_050663 VAR_050663 disease not phenotype-associated VAR_050664 commonName VAR_050664 VAR_050664 disease not phenotype-associated VAR_050665 commonName VAR_050665 VAR_050665 disease not phenotype-associated VAR_050666 commonName VAR_050666 VAR_050666 disease not phenotype-associated VAR_050667 commonName VAR_050667 VAR_050667 disease not phenotype-associated VAR_050668 commonName VAR_050668 VAR_050668 disease not phenotype-associated VAR_050669 commonName VAR_050669 VAR_050669 disease not phenotype-associated VAR_050670 commonName VAR_050670 VAR_050670 disease not phenotype-associated VAR_050672 commonName VAR_050672 VAR_050672 disease not phenotype-associated VAR_050674 commonName VAR_050674 VAR_050674 disease not phenotype-associated VAR_050675 commonName VAR_050675 VAR_050675 disease not phenotype-associated VAR_050676 commonName VAR_050676 VAR_050676 disease not phenotype-associated VAR_050677 commonName VAR_050677 VAR_050677 disease not phenotype-associated VAR_050678 commonName VAR_050678 VAR_050678 disease not phenotype-associated VAR_050679 commonName VAR_050679 VAR_050679 disease not phenotype-associated VAR_050680 commonName VAR_050680 VAR_050680 disease not phenotype-associated VAR_050681 commonName VAR_050681 VAR_050681 disease not phenotype-associated VAR_050682 commonName VAR_050682 VAR_050682 disease not phenotype-associated VAR_050683 commonName VAR_050683 VAR_050683 disease not phenotype-associated VAR_050684 commonName VAR_050684 VAR_050684 disease not phenotype-associated VAR_050685 commonName VAR_050685 VAR_050685 disease not phenotype-associated VAR_050687 commonName VAR_050687 VAR_050687 disease not phenotype-associated VAR_050688 commonName VAR_050688 VAR_050688 disease not phenotype-associated VAR_050689 commonName VAR_050689 VAR_050689 disease not phenotype-associated VAR_050691 commonName VAR_050691 VAR_050691 disease not phenotype-associated VAR_050692 commonName VAR_050692 VAR_050692 disease not phenotype-associated VAR_050693 commonName VAR_050693 VAR_050693 disease not phenotype-associated VAR_050694 commonName VAR_050694 VAR_050694 disease not phenotype-associated VAR_050695 commonName VAR_050695 VAR_050695 disease not phenotype-associated VAR_050696 commonName VAR_050696 VAR_050696 disease not phenotype-associated VAR_050697 commonName VAR_050697 VAR_050697 disease not phenotype-associated VAR_050698 commonName VAR_050698 VAR_050698 disease not phenotype-associated VAR_050699 commonName VAR_050699 VAR_050699 disease not phenotype-associated VAR_050700 commonName VAR_050700 VAR_050700 disease not phenotype-associated VAR_050701 commonName VAR_050701 VAR_050701 disease not phenotype-associated VAR_050703 commonName VAR_050703 VAR_050703 disease not phenotype-associated VAR_050704 commonName VAR_050704 VAR_050704 disease not phenotype-associated VAR_050705 commonName VAR_050705 VAR_050705 disease not phenotype-associated VAR_050706 commonName VAR_050706 VAR_050706 disease not phenotype-associated VAR_050707 commonName VAR_050707 VAR_050707 disease not phenotype-associated VAR_050708 commonName VAR_050708 VAR_050708 disease not phenotype-associated VAR_050709 commonName VAR_050709 VAR_050709 disease not phenotype-associated VAR_050710 commonName VAR_050710 VAR_050710 disease not phenotype-associated VAR_050711 commonName VAR_050711 VAR_050711 disease not phenotype-associated VAR_050712 commonName VAR_050712 VAR_050712 disease not phenotype-associated VAR_050713 commonName VAR_050713 VAR_050713 disease not phenotype-associated VAR_050714 commonName VAR_050714 VAR_050714 disease not phenotype-associated VAR_050715 commonName VAR_050715 VAR_050715 disease not phenotype-associated VAR_050716 commonName VAR_050716 VAR_050716 disease not phenotype-associated VAR_050717 commonName VAR_050717 VAR_050717 disease not phenotype-associated VAR_050718 commonName VAR_050718 VAR_050718 disease not phenotype-associated VAR_050719 commonName VAR_050719 VAR_050719 disease not phenotype-associated VAR_050720 commonName VAR_050720 VAR_050720 disease not phenotype-associated VAR_050721 commonName VAR_050721 VAR_050721 disease not phenotype-associated VAR_050722 commonName VAR_050722 VAR_050722 disease not phenotype-associated VAR_050723 commonName VAR_050723 VAR_050723 disease not phenotype-associated VAR_050724 commonName VAR_050724 VAR_050724 disease not phenotype-associated VAR_050725 commonName VAR_050725 VAR_050725 disease not phenotype-associated VAR_050726 commonName VAR_050726 VAR_050726 disease not phenotype-associated VAR_050727 commonName VAR_050727 VAR_050727 disease not phenotype-associated VAR_050728 commonName VAR_050728 VAR_050728 disease not phenotype-associated VAR_050729 commonName VAR_050729 VAR_050729 disease not phenotype-associated VAR_050730 commonName VAR_050730 VAR_050730 disease not phenotype-associated VAR_050731 commonName VAR_050731 VAR_050731 disease not phenotype-associated VAR_050732 commonName VAR_050732 VAR_050732 disease not phenotype-associated VAR_050733 commonName VAR_050733 VAR_050733 disease not phenotype-associated VAR_050734 commonName VAR_050734 VAR_050734 disease not phenotype-associated VAR_050735 commonName VAR_050735 VAR_050735 disease not phenotype-associated VAR_050736 commonName VAR_050736 VAR_050736 disease not phenotype-associated VAR_050737 commonName VAR_050737 VAR_050737 disease not phenotype-associated VAR_050738 commonName VAR_050738 VAR_050738 disease not phenotype-associated VAR_050739 commonName VAR_050739 VAR_050739 disease not phenotype-associated VAR_050740 commonName VAR_050740 VAR_050740 disease not phenotype-associated VAR_050741 commonName VAR_050741 VAR_050741 disease not phenotype-associated VAR_050742 commonName VAR_050742 VAR_050742 disease not phenotype-associated VAR_050744 commonName VAR_050744 VAR_050744 disease not phenotype-associated VAR_050745 commonName VAR_050745 VAR_050745 disease not phenotype-associated VAR_050746 commonName VAR_050746 VAR_050746 disease not phenotype-associated VAR_050747 commonName VAR_050747 VAR_050747 disease not phenotype-associated VAR_050748 commonName VAR_050748 VAR_050748 disease not phenotype-associated VAR_050749 commonName VAR_050749 VAR_050749 disease not phenotype-associated VAR_050750 commonName VAR_050750 VAR_050750 disease not phenotype-associated VAR_050752 commonName VAR_050752 VAR_050752 disease not phenotype-associated VAR_050753 commonName VAR_050753 VAR_050753 disease not phenotype-associated VAR_050754 commonName VAR_050754 HbVar.684 commonName Hb C-Ziguinchor VAR_050754 disease not phenotype-associated VAR_050755 commonName VAR_050755 VAR_050755 disease not phenotype-associated VAR_050756 commonName VAR_050756 VAR_050756 disease not phenotype-associated VAR_050757 commonName VAR_050757 VAR_050757 disease not phenotype-associated VAR_050758 commonName VAR_050758 VAR_050758 disease not phenotype-associated VAR_050759 commonName VAR_050759 VAR_050759 disease not phenotype-associated VAR_050760 commonName VAR_050760 VAR_050760 disease not phenotype-associated VAR_050762 commonName VAR_050762 VAR_050762 disease not phenotype-associated VAR_050763 commonName VAR_050763 VAR_050763 disease not phenotype-associated VAR_050764 commonName VAR_050764 VAR_050764 disease not phenotype-associated VAR_050765 commonName VAR_050765 VAR_050765 disease not phenotype-associated VAR_050766 commonName VAR_050766 VAR_050766 disease not phenotype-associated VAR_050767 commonName VAR_050767 VAR_050767 disease not phenotype-associated VAR_050768 commonName VAR_050768 VAR_050768 disease not phenotype-associated VAR_050769 commonName VAR_050769 VAR_050769 disease not phenotype-associated VAR_050770 commonName VAR_050770 VAR_050770 disease not phenotype-associated VAR_050772 commonName VAR_050772 VAR_050772 disease not phenotype-associated VAR_050773 commonName VAR_050773 VAR_050773 disease not phenotype-associated VAR_050774 commonName VAR_050774 VAR_050774 disease not phenotype-associated VAR_050775 commonName VAR_050775 VAR_050775 disease not phenotype-associated VAR_050776 commonName VAR_050776 VAR_050776 disease not phenotype-associated VAR_050777 commonName VAR_050777 VAR_050777 disease not phenotype-associated VAR_050778 commonName VAR_050778 VAR_050778 disease not phenotype-associated VAR_050779 commonName VAR_050779 VAR_050779 disease not phenotype-associated VAR_050780 commonName VAR_050780 VAR_050780 disease not phenotype-associated VAR_050781 commonName VAR_050781 VAR_050781 disease not phenotype-associated VAR_050790 commonName VAR_050790 VAR_050790 disease not phenotype-associated VAR_050791 commonName VAR_050791 VAR_050791 disease not phenotype-associated VAR_050792 commonName VAR_050792 VAR_050792 disease not phenotype-associated VAR_050793 commonName VAR_050793 VAR_050793 disease not phenotype-associated VAR_050794 commonName VAR_050794 VAR_050794 disease not phenotype-associated VAR_050795 commonName VAR_050795 VAR_050795 disease not phenotype-associated VAR_050796 commonName VAR_050796 VAR_050796 disease not phenotype-associated VAR_050797 commonName VAR_050797 VAR_050797 disease not phenotype-associated VAR_050798 commonName VAR_050798 VAR_050798 disease not phenotype-associated VAR_050799 commonName VAR_050799 VAR_050799 disease not phenotype-associated VAR_050800 commonName VAR_050800 VAR_050800 disease not phenotype-associated VAR_050803 commonName VAR_050803 VAR_050803 disease not phenotype-associated VAR_050804 commonName VAR_050804 VAR_050804 disease not phenotype-associated VAR_050805 commonName VAR_050805 VAR_050805 disease not phenotype-associated VAR_050806 commonName VAR_050806 VAR_050806 disease not phenotype-associated VAR_050807 commonName VAR_050807 VAR_050807 disease not phenotype-associated VAR_050808 commonName VAR_050808 VAR_050808 disease not phenotype-associated VAR_050809 commonName VAR_050809 VAR_050809 disease not phenotype-associated VAR_050810 commonName VAR_050810 VAR_050810 disease not phenotype-associated VAR_050811 commonName VAR_050811 VAR_050811 disease not phenotype-associated VAR_050812 commonName VAR_050812 VAR_050812 disease not phenotype-associated VAR_050813 commonName VAR_050813 VAR_050813 disease not phenotype-associated VAR_050814 commonName VAR_050814 VAR_050814 disease not phenotype-associated VAR_050815 commonName VAR_050815 VAR_050815 disease not phenotype-associated VAR_050816 commonName VAR_050816 VAR_050816 disease not phenotype-associated VAR_050817 commonName VAR_050817 VAR_050817 disease not phenotype-associated VAR_050819 commonName VAR_050819 VAR_050819 disease not phenotype-associated VAR_050823 commonName VAR_050823 VAR_050823 disease not phenotype-associated VAR_050824 commonName VAR_050824 VAR_050824 disease not phenotype-associated VAR_050825 commonName VAR_050825 VAR_050825 disease not phenotype-associated VAR_050826 commonName VAR_050826 VAR_050826 disease not phenotype-associated VAR_050827 commonName VAR_050827 VAR_050827 disease not phenotype-associated VAR_050828 commonName VAR_050828 VAR_050828 disease not phenotype-associated VAR_050829 commonName VAR_050829 VAR_050829 disease not phenotype-associated VAR_050830 commonName VAR_050830 VAR_050830 disease not phenotype-associated VAR_050831 commonName VAR_050831 VAR_050831 disease not phenotype-associated VAR_050832 commonName VAR_050832 VAR_050832 disease not phenotype-associated VAR_050833 commonName VAR_050833 VAR_050833 disease not phenotype-associated VAR_050834 commonName VAR_050834 VAR_050834 disease not phenotype-associated VAR_050835 commonName VAR_050835 VAR_050835 disease not phenotype-associated VAR_050836 commonName VAR_050836 VAR_050836 disease not phenotype-associated VAR_050837 commonName VAR_050837 VAR_050837 disease not phenotype-associated VAR_050838 commonName VAR_050838 VAR_050838 disease not phenotype-associated VAR_050839 commonName VAR_050839 VAR_050839 disease not phenotype-associated VAR_050840 commonName VAR_050840 VAR_050840 disease not phenotype-associated VAR_050841 commonName VAR_050841 VAR_050841 disease not phenotype-associated VAR_050842 commonName VAR_050842 VAR_050842 disease not phenotype-associated VAR_050843 commonName VAR_050843 VAR_050843 disease not phenotype-associated VAR_050844 commonName VAR_050844 VAR_050844 disease not phenotype-associated VAR_050845 commonName VAR_050845 VAR_050845 disease not phenotype-associated VAR_050846 commonName VAR_050846 VAR_050846 disease not phenotype-associated VAR_050847 commonName VAR_050847 VAR_050847 disease not phenotype-associated VAR_050848 commonName VAR_050848 VAR_050848 disease not phenotype-associated VAR_050849 commonName VAR_050849 VAR_050849 disease not phenotype-associated VAR_050850 commonName VAR_050850 VAR_050850 disease not phenotype-associated VAR_050854 commonName VAR_050854 VAR_050854 disease not phenotype-associated VAR_050855 commonName VAR_050855 VAR_050855 disease not phenotype-associated VAR_050856 commonName VAR_050856 VAR_050856 disease not phenotype-associated VAR_050857 commonName VAR_050857 VAR_050857 disease not phenotype-associated VAR_050858 commonName VAR_050858 VAR_050858 disease not phenotype-associated VAR_050859 commonName VAR_050859 VAR_050859 disease not phenotype-associated VAR_050860 commonName VAR_050860 VAR_050860 disease not phenotype-associated VAR_050861 commonName VAR_050861 VAR_050861 disease not phenotype-associated VAR_050862 commonName VAR_050862 VAR_050862 disease not phenotype-associated VAR_050863 commonName VAR_050863 VAR_050863 disease not phenotype-associated VAR_050864 commonName VAR_050864 VAR_050864 disease not phenotype-associated VAR_050865 commonName VAR_050865 VAR_050865 disease not phenotype-associated VAR_050866 commonName VAR_050866 VAR_050866 disease not phenotype-associated VAR_050867 commonName VAR_050867 VAR_050867 disease not phenotype-associated VAR_050868 commonName VAR_050868 VAR_050868 disease not phenotype-associated VAR_050869 commonName VAR_050869 VAR_050869 disease not phenotype-associated VAR_050875 commonName VAR_050875 VAR_050875 disease not phenotype-associated VAR_050876 commonName VAR_050876 VAR_050876 disease not phenotype-associated VAR_050877 commonName VAR_050877 VAR_050877 disease not phenotype-associated VAR_050878 commonName VAR_050878 VAR_050878 disease not phenotype-associated VAR_050879 commonName VAR_050879 VAR_050879 disease not phenotype-associated VAR_050880 commonName VAR_050880 VAR_050880 disease not phenotype-associated VAR_050881 commonName VAR_050881 VAR_050881 disease not phenotype-associated VAR_050882 commonName VAR_050882 VAR_050882 disease not phenotype-associated VAR_050884 commonName VAR_050884 VAR_050884 disease not phenotype-associated VAR_050885 commonName VAR_050885 VAR_050885 disease not phenotype-associated VAR_050886 commonName VAR_050886 VAR_050886 disease not phenotype-associated VAR_050887 commonName VAR_050887 VAR_050887 disease not phenotype-associated VAR_050888 commonName VAR_050888 VAR_050888 disease not phenotype-associated VAR_050889 commonName VAR_050889 VAR_050889 disease not phenotype-associated VAR_050890 commonName VAR_050890 VAR_050890 disease not phenotype-associated VAR_050891 commonName VAR_050891 VAR_050891 disease not phenotype-associated VAR_050892 commonName VAR_050892 VAR_050892 disease not phenotype-associated VAR_050893 commonName VAR_050893 VAR_050893 disease not phenotype-associated VAR_050894 commonName VAR_050894 VAR_050894 disease not phenotype-associated VAR_050895 commonName VAR_050895 VAR_050895 disease not phenotype-associated VAR_050896 commonName VAR_050896 VAR_050896 disease not phenotype-associated VAR_050897 commonName VAR_050897 VAR_050897 disease not phenotype-associated VAR_050898 commonName VAR_050898 VAR_050898 disease not phenotype-associated VAR_050899 commonName VAR_050899 VAR_050899 disease not phenotype-associated VAR_050903 commonName VAR_050903 VAR_050903 disease not phenotype-associated VAR_050904 commonName VAR_050904 VAR_050904 disease not phenotype-associated VAR_050905 commonName VAR_050905 VAR_050905 disease not phenotype-associated VAR_050906 commonName VAR_050906 VAR_050906 disease not phenotype-associated VAR_050907 commonName VAR_050907 VAR_050907 disease not phenotype-associated VAR_050908 commonName VAR_050908 VAR_050908 disease not phenotype-associated VAR_050909 commonName VAR_050909 VAR_050909 disease not phenotype-associated VAR_050910 commonName VAR_050910 VAR_050910 disease not phenotype-associated VAR_050911 commonName VAR_050911 VAR_050911 disease not phenotype-associated VAR_050912 commonName VAR_050912 VAR_050912 disease not phenotype-associated VAR_050917 commonName VAR_050917 VAR_050917 disease not phenotype-associated VAR_050918 commonName VAR_050918 VAR_050918 disease not phenotype-associated VAR_050919 commonName VAR_050919 VAR_050919 disease not phenotype-associated VAR_050920 commonName VAR_050920 VAR_050920 disease not phenotype-associated VAR_050921 commonName VAR_050921 VAR_050921 disease not phenotype-associated VAR_050922 commonName VAR_050922 VAR_050922 disease not phenotype-associated VAR_050923 commonName VAR_050923 VAR_050923 disease not phenotype-associated VAR_050924 commonName VAR_050924 VAR_050924 disease not phenotype-associated VAR_050925 commonName VAR_050925 VAR_050925 disease not phenotype-associated VAR_050926 commonName VAR_050926 VAR_050926 disease not phenotype-associated VAR_050927 commonName VAR_050927 VAR_050927 disease not phenotype-associated VAR_050928 commonName VAR_050928 VAR_050928 disease not phenotype-associated VAR_050933 commonName VAR_050933 VAR_050933 disease not phenotype-associated VAR_050934 commonName VAR_050934 VAR_050934 disease not phenotype-associated VAR_050935 commonName VAR_050935 VAR_050935 disease not phenotype-associated VAR_050936 commonName VAR_050936 VAR_050936 disease not phenotype-associated VAR_050937 commonName VAR_050937 VAR_050937 disease not phenotype-associated VAR_050938 commonName VAR_050938 VAR_050938 disease not phenotype-associated VAR_050939 commonName VAR_050939 VAR_050939 disease not phenotype-associated VAR_050940 commonName VAR_050940 VAR_050940 disease not phenotype-associated VAR_050941 commonName VAR_050941 VAR_050941 disease not phenotype-associated VAR_050942 commonName VAR_050942 VAR_050942 disease not phenotype-associated VAR_050943 commonName VAR_050943 VAR_050943 disease not phenotype-associated VAR_050944 commonName VAR_050944 VAR_050944 disease not phenotype-associated VAR_050945 commonName VAR_050945 VAR_050945 disease not phenotype-associated VAR_050946 commonName VAR_050946 VAR_050946 disease not phenotype-associated VAR_050947 commonName VAR_050947 VAR_050947 disease not phenotype-associated VAR_050948 commonName VAR_050948 VAR_050948 disease not phenotype-associated VAR_050949 commonName VAR_050949 VAR_050949 disease not phenotype-associated VAR_050950 commonName VAR_050950 VAR_050950 disease not phenotype-associated VAR_050951 commonName VAR_050951 VAR_050951 disease not phenotype-associated VAR_050952 commonName VAR_050952 VAR_050952 disease not phenotype-associated VAR_050954 commonName VAR_050954 VAR_050954 disease not phenotype-associated VAR_050955 commonName VAR_050955 VAR_050955 disease not phenotype-associated VAR_050956 commonName VAR_050956 VAR_050956 disease not phenotype-associated VAR_050957 commonName VAR_050957 VAR_050957 disease not phenotype-associated VAR_050958 commonName VAR_050958 VAR_050958 disease not phenotype-associated VAR_050960 commonName VAR_050960 VAR_050960 disease not phenotype-associated VAR_050961 commonName VAR_050961 VAR_050961 disease not phenotype-associated VAR_050962 commonName VAR_050962 VAR_050962 disease not phenotype-associated VAR_050963 commonName VAR_050963 VAR_050963 disease not phenotype-associated VAR_050964 commonName VAR_050964 VAR_050964 disease not phenotype-associated VAR_050965 commonName VAR_050965 VAR_050965 disease not phenotype-associated VAR_050966 commonName VAR_050966 VAR_050966 disease not phenotype-associated VAR_050967 commonName VAR_050967 VAR_050967 disease not phenotype-associated VAR_050968 commonName VAR_050968 VAR_050968 disease not phenotype-associated VAR_050969 commonName VAR_050969 VAR_050969 disease not phenotype-associated VAR_050970 commonName VAR_050970 VAR_050970 disease not phenotype-associated VAR_050973 commonName VAR_050973 VAR_050973 disease not phenotype-associated VAR_050974 commonName VAR_050974 VAR_050974 disease not phenotype-associated VAR_050975 commonName VAR_050975 VAR_050975 disease not phenotype-associated VAR_050976 commonName VAR_050976 VAR_050976 disease not phenotype-associated VAR_050978 commonName VAR_050978 VAR_050978 disease not phenotype-associated VAR_050979 commonName VAR_050979 VAR_050979 disease not phenotype-associated VAR_050980 commonName VAR_050980 VAR_050980 disease not phenotype-associated VAR_050982 commonName VAR_050982 VAR_050982 disease not phenotype-associated VAR_050983 commonName VAR_050983 VAR_050983 disease not phenotype-associated VAR_050984 commonName VAR_050984 VAR_050984 disease not phenotype-associated VAR_050985 commonName VAR_050985 VAR_050985 disease not phenotype-associated VAR_050986 commonName VAR_050986 VAR_050986 disease not phenotype-associated VAR_050987 commonName VAR_050987 VAR_050987 disease not phenotype-associated VAR_050988 commonName VAR_050988 VAR_050988 disease not phenotype-associated VAR_050989 commonName VAR_050989 VAR_050989 disease not phenotype-associated VAR_050990 commonName VAR_050990 VAR_050990 disease not phenotype-associated VAR_050991 commonName VAR_050991 VAR_050991 disease not phenotype-associated VAR_050992 commonName VAR_050992 VAR_050992 disease not phenotype-associated VAR_050993 commonName VAR_050993 VAR_050993 disease not phenotype-associated VAR_050994 commonName VAR_050994 VAR_050994 disease not phenotype-associated VAR_050996 commonName VAR_050996 VAR_050996 disease not phenotype-associated VAR_050997 commonName VAR_050997 VAR_050997 disease not phenotype-associated VAR_050998 commonName VAR_050998 VAR_050998 disease not phenotype-associated VAR_050999 commonName VAR_050999 VAR_050999 disease not phenotype-associated VAR_051000 commonName VAR_051000 VAR_051000 disease not phenotype-associated VAR_051001 commonName VAR_051001 VAR_051001 disease not phenotype-associated VAR_051002 commonName VAR_051002 VAR_051002 disease not phenotype-associated VAR_051005 commonName VAR_051005 VAR_051005 disease not phenotype-associated VAR_051006 commonName VAR_051006 VAR_051006 disease not phenotype-associated VAR_051007 commonName VAR_051007 VAR_051007 disease not phenotype-associated VAR_051010 commonName VAR_051010 VAR_051010 disease not phenotype-associated VAR_051011 commonName VAR_051011 VAR_051011 disease not phenotype-associated VAR_051012 commonName VAR_051012 VAR_051012 disease not phenotype-associated VAR_051014 commonName VAR_051014 VAR_051014 disease not phenotype-associated VAR_051015 commonName VAR_051015 VAR_051015 disease not phenotype-associated VAR_051016 commonName VAR_051016 VAR_051016 disease not phenotype-associated VAR_051017 commonName VAR_051017 VAR_051017 disease not phenotype-associated VAR_051018 commonName VAR_051018 VAR_051018 disease not phenotype-associated VAR_051019 commonName VAR_051019 VAR_051019 disease not phenotype-associated VAR_051020 commonName VAR_051020 VAR_051020 disease not phenotype-associated VAR_051021 commonName VAR_051021 VAR_051021 disease not phenotype-associated VAR_051022 commonName VAR_051022 VAR_051022 disease not phenotype-associated VAR_051023 commonName VAR_051023 VAR_051023 disease not phenotype-associated VAR_051024 commonName VAR_051024 VAR_051024 disease not phenotype-associated VAR_051025 commonName VAR_051025 VAR_051025 disease not phenotype-associated VAR_051026 commonName VAR_051026 VAR_051026 disease not phenotype-associated VAR_051027 commonName VAR_051027 VAR_051027 disease not phenotype-associated VAR_051028 commonName VAR_051028 VAR_051028 disease not phenotype-associated VAR_051029 commonName VAR_051029 VAR_051029 disease not phenotype-associated VAR_051030 commonName VAR_051030 VAR_051030 disease not phenotype-associated VAR_051032 commonName VAR_051032 VAR_051032 disease not phenotype-associated VAR_051033 commonName VAR_051033 VAR_051033 disease not phenotype-associated VAR_051034 commonName VAR_051034 VAR_051034 disease not phenotype-associated VAR_051035 commonName VAR_051035 VAR_051035 disease not phenotype-associated VAR_051059 commonName VAR_051059 VAR_051059 disease not phenotype-associated VAR_051060 commonName VAR_051060 VAR_051060 disease not phenotype-associated VAR_051061 commonName VAR_051061 VAR_051061 disease not phenotype-associated VAR_051062 commonName VAR_051062 VAR_051062 disease not phenotype-associated VAR_051063 commonName VAR_051063 VAR_051063 disease not phenotype-associated VAR_051064 commonName VAR_051064 VAR_051064 disease not phenotype-associated VAR_051065 commonName VAR_051065 VAR_051065 disease not phenotype-associated VAR_051066 commonName VAR_051066 VAR_051066 disease not phenotype-associated VAR_051067 commonName VAR_051067 VAR_051067 disease not phenotype-associated VAR_051068 commonName VAR_051068 VAR_051068 disease not phenotype-associated VAR_051069 commonName VAR_051069 VAR_051069 disease not phenotype-associated VAR_051070 commonName VAR_051070 VAR_051070 disease not phenotype-associated VAR_051071 commonName VAR_051071 VAR_051071 disease not phenotype-associated VAR_051072 commonName VAR_051072 VAR_051072 disease not phenotype-associated VAR_051073 commonName VAR_051073 VAR_051073 disease not phenotype-associated VAR_051074 commonName VAR_051074 VAR_051074 disease not phenotype-associated VAR_051075 commonName VAR_051075 VAR_051075 disease not phenotype-associated VAR_051076 commonName VAR_051076 VAR_051076 disease not phenotype-associated VAR_051077 commonName VAR_051077 VAR_051077 disease not phenotype-associated VAR_051078 commonName VAR_051078 VAR_051078 disease not phenotype-associated VAR_051079 commonName VAR_051079 VAR_051079 disease not phenotype-associated VAR_051080 commonName VAR_051080 VAR_051080 disease not phenotype-associated VAR_051082 commonName VAR_051082 VAR_051082 disease not phenotype-associated VAR_051083 commonName VAR_051083 VAR_051083 disease not phenotype-associated VAR_051084 commonName VAR_051084 VAR_051084 disease not phenotype-associated VAR_051085 commonName VAR_051085 VAR_051085 disease not phenotype-associated VAR_051086 commonName VAR_051086 VAR_051086 disease not phenotype-associated VAR_051088 commonName VAR_051088 VAR_051088 disease not phenotype-associated VAR_051089 commonName VAR_051089 VAR_051089 disease not phenotype-associated VAR_051090 commonName VAR_051090 VAR_051090 disease not phenotype-associated VAR_051091 commonName VAR_051091 VAR_051091 disease not phenotype-associated VAR_051092 commonName VAR_051092 VAR_051092 disease not phenotype-associated VAR_051093 commonName VAR_051093 VAR_051093 disease not phenotype-associated VAR_051094 commonName VAR_051094 VAR_051094 disease not phenotype-associated VAR_051095 commonName VAR_051095 VAR_051095 disease not phenotype-associated VAR_051096 commonName VAR_051096 VAR_051096 disease not phenotype-associated VAR_051097 commonName VAR_051097 VAR_051097 disease not phenotype-associated VAR_051098 commonName VAR_051098 VAR_051098 disease not phenotype-associated VAR_051101 commonName VAR_051101 VAR_051101 disease not phenotype-associated VAR_051102 commonName VAR_051102 VAR_051102 disease not phenotype-associated VAR_051103 commonName VAR_051103 VAR_051103 disease not phenotype-associated VAR_051104 commonName VAR_051104 VAR_051104 disease not phenotype-associated VAR_051105 commonName VAR_051105 VAR_051105 disease not phenotype-associated VAR_051106 commonName VAR_051106 VAR_051106 disease not phenotype-associated VAR_051107 commonName VAR_051107 VAR_051107 disease not phenotype-associated VAR_051108 commonName VAR_051108 VAR_051108 disease not phenotype-associated VAR_051109 commonName VAR_051109 VAR_051109 disease not phenotype-associated VAR_051110 commonName VAR_051110 VAR_051110 disease not phenotype-associated VAR_051111 commonName VAR_051111 VAR_051111 disease not phenotype-associated VAR_051112 commonName VAR_051112 VAR_051112 disease not phenotype-associated VAR_051113 commonName VAR_051113 VAR_051113 disease not phenotype-associated VAR_051114 commonName VAR_051114 VAR_051114 disease not phenotype-associated VAR_051118 commonName VAR_051118 VAR_051118 disease not phenotype-associated VAR_051119 commonName VAR_051119 VAR_051119 disease not phenotype-associated VAR_051120 commonName VAR_051120 VAR_051120 disease not phenotype-associated VAR_051121 commonName VAR_051121 VAR_051121 disease not phenotype-associated VAR_051122 commonName VAR_051122 VAR_051122 disease not phenotype-associated VAR_051123 commonName VAR_051123 VAR_051123 disease not phenotype-associated VAR_051124 commonName VAR_051124 VAR_051124 disease not phenotype-associated VAR_051125 commonName VAR_051125 VAR_051125 disease not phenotype-associated VAR_051126 commonName VAR_051126 VAR_051126 disease not phenotype-associated VAR_051127 commonName VAR_051127 VAR_051127 disease not phenotype-associated VAR_051128 commonName VAR_051128 VAR_051128 disease not phenotype-associated VAR_051129 commonName VAR_051129 VAR_051129 disease not phenotype-associated VAR_051130 commonName VAR_051130 VAR_051130 disease not phenotype-associated VAR_051131 commonName VAR_051131 VAR_051131 disease not phenotype-associated VAR_051132 commonName VAR_051132 VAR_051132 disease not phenotype-associated VAR_051133 commonName VAR_051133 VAR_051133 disease not phenotype-associated VAR_051134 commonName VAR_051134 VAR_051134 disease not phenotype-associated VAR_051135 commonName VAR_051135 VAR_051135 disease not phenotype-associated VAR_051136 commonName VAR_051136 VAR_051136 disease not phenotype-associated VAR_051137 commonName VAR_051137 VAR_051137 disease not phenotype-associated VAR_051138 commonName VAR_051138 VAR_051138 disease not phenotype-associated VAR_051139 commonName VAR_051139 VAR_051139 disease not phenotype-associated VAR_051140 commonName VAR_051140 VAR_051140 disease not phenotype-associated VAR_051141 commonName VAR_051141 VAR_051141 disease not phenotype-associated VAR_051142 commonName VAR_051142 VAR_051142 disease not phenotype-associated VAR_051143 commonName VAR_051143 VAR_051143 disease not phenotype-associated VAR_051144 commonName VAR_051144 VAR_051144 disease not phenotype-associated VAR_051145 commonName VAR_051145 VAR_051145 disease not phenotype-associated VAR_051146 commonName VAR_051146 VAR_051146 disease not phenotype-associated VAR_051147 commonName VAR_051147 VAR_051147 disease not phenotype-associated VAR_051148 commonName VAR_051148 VAR_051148 disease not phenotype-associated VAR_051149 commonName VAR_051149 VAR_051149 disease not phenotype-associated VAR_051150 commonName VAR_051150 VAR_051150 disease not phenotype-associated VAR_051151 commonName VAR_051151 VAR_051151 disease not phenotype-associated VAR_051152 commonName VAR_051152 VAR_051152 disease not phenotype-associated VAR_051153 commonName VAR_051153 VAR_051153 disease not phenotype-associated VAR_051154 commonName VAR_051154 VAR_051154 disease not phenotype-associated VAR_051155 commonName VAR_051155 VAR_051155 disease not phenotype-associated VAR_051156 commonName VAR_051156 VAR_051156 disease not phenotype-associated VAR_051157 commonName VAR_051157 VAR_051157 disease not phenotype-associated VAR_051158 commonName VAR_051158 VAR_051158 disease not phenotype-associated VAR_051159 commonName VAR_051159 VAR_051159 disease not phenotype-associated VAR_051171 commonName VAR_051171 VAR_051171 disease not phenotype-associated VAR_051172 commonName VAR_051172 VAR_051172 disease not phenotype-associated VAR_051173 commonName VAR_051173 VAR_051173 disease not phenotype-associated VAR_051174 commonName VAR_051174 VAR_051174 disease not phenotype-associated VAR_051175 commonName VAR_051175 VAR_051175 disease not phenotype-associated VAR_051176 commonName VAR_051176 VAR_051176 disease not phenotype-associated VAR_051177 commonName VAR_051177 VAR_051177 disease not phenotype-associated VAR_051178 commonName VAR_051178 VAR_051178 disease not phenotype-associated VAR_051179 commonName VAR_051179 VAR_051179 disease not phenotype-associated VAR_051180 commonName VAR_051180 VAR_051180 disease not phenotype-associated VAR_051181 commonName VAR_051181 VAR_051181 disease not phenotype-associated VAR_051182 commonName VAR_051182 VAR_051182 disease not phenotype-associated VAR_051183 commonName VAR_051183 VAR_051183 disease not phenotype-associated VAR_051185 commonName VAR_051185 VAR_051185 disease not phenotype-associated VAR_051186 commonName VAR_051186 VAR_051186 disease not phenotype-associated VAR_051188 commonName VAR_051188 VAR_051188 disease not phenotype-associated VAR_051189 commonName VAR_051189 VAR_051189 disease not phenotype-associated VAR_051190 commonName VAR_051190 VAR_051190 disease not phenotype-associated VAR_051191 commonName VAR_051191 VAR_051191 disease not phenotype-associated VAR_051192 commonName VAR_051192 VAR_051192 disease not phenotype-associated VAR_051193 commonName VAR_051193 VAR_051193 disease not phenotype-associated VAR_051194 commonName VAR_051194 VAR_051194 disease not phenotype-associated VAR_051195 commonName VAR_051195 VAR_051195 disease not phenotype-associated VAR_051196 commonName VAR_051196 VAR_051196 disease not phenotype-associated VAR_051197 commonName VAR_051197 VAR_051197 disease not phenotype-associated VAR_051198 commonName VAR_051198 VAR_051198 disease not phenotype-associated VAR_051199 commonName VAR_051199 VAR_051199 disease not phenotype-associated VAR_051200 commonName VAR_051200 VAR_051200 disease not phenotype-associated VAR_051201 commonName VAR_051201 VAR_051201 disease not phenotype-associated VAR_051202 commonName VAR_051202 VAR_051202 disease not phenotype-associated VAR_051203 commonName VAR_051203 VAR_051203 disease not phenotype-associated VAR_051204 commonName VAR_051204 VAR_051204 disease not phenotype-associated VAR_051205 commonName VAR_051205 VAR_051205 disease not phenotype-associated VAR_051206 commonName VAR_051206 VAR_051206 disease not phenotype-associated VAR_051207 commonName VAR_051207 VAR_051207 disease not phenotype-associated VAR_051208 commonName VAR_051208 VAR_051208 disease not phenotype-associated VAR_051209 commonName VAR_051209 VAR_051209 disease not phenotype-associated VAR_051210 commonName VAR_051210 VAR_051210 disease not phenotype-associated VAR_051211 commonName VAR_051211 VAR_051211 disease not phenotype-associated VAR_051215 commonName VAR_051215 VAR_051215 disease not phenotype-associated VAR_051216 commonName VAR_051216 VAR_051216 disease not phenotype-associated VAR_051217 commonName VAR_051217 VAR_051217 disease not phenotype-associated VAR_051218 commonName VAR_051218 VAR_051218 disease not phenotype-associated VAR_051219 commonName VAR_051219 VAR_051219 disease not phenotype-associated VAR_051220 commonName VAR_051220 VAR_051220 disease not phenotype-associated VAR_051221 commonName VAR_051221 VAR_051221 disease not phenotype-associated VAR_051222 commonName VAR_051222 VAR_051222 disease not phenotype-associated VAR_051223 commonName VAR_051223 VAR_051223 disease not phenotype-associated VAR_051224 commonName VAR_051224 VAR_051224 disease not phenotype-associated VAR_051225 commonName VAR_051225 VAR_051225 disease not phenotype-associated VAR_051226 commonName VAR_051226 VAR_051226 disease not phenotype-associated VAR_051227 commonName VAR_051227 VAR_051227 disease not phenotype-associated VAR_051228 commonName VAR_051228 VAR_051228 disease not phenotype-associated VAR_051229 commonName VAR_051229 VAR_051229 disease not phenotype-associated VAR_051230 commonName VAR_051230 VAR_051230 disease not phenotype-associated VAR_051231 commonName VAR_051231 VAR_051231 disease not phenotype-associated VAR_051232 commonName VAR_051232 VAR_051232 disease not phenotype-associated VAR_051233 commonName VAR_051233 VAR_051233 disease not phenotype-associated VAR_051235 commonName VAR_051235 VAR_051235 disease not phenotype-associated VAR_051236 commonName VAR_051236 VAR_051236 disease not phenotype-associated VAR_051237 commonName VAR_051237 VAR_051237 disease not phenotype-associated VAR_051238 commonName VAR_051238 VAR_051238 disease not phenotype-associated VAR_051239 commonName VAR_051239 VAR_051239 disease not phenotype-associated VAR_051240 commonName VAR_051240 VAR_051240 disease not phenotype-associated VAR_051241 commonName VAR_051241 VAR_051241 disease not phenotype-associated VAR_051242 commonName VAR_051242 VAR_051242 disease not phenotype-associated VAR_051243 commonName VAR_051243 VAR_051243 disease not phenotype-associated VAR_051246 commonName VAR_051246 VAR_051246 disease not phenotype-associated VAR_051247 commonName VAR_051247 VAR_051247 disease not phenotype-associated VAR_051249 commonName VAR_051249 VAR_051249 disease not phenotype-associated VAR_051250 commonName VAR_051250 VAR_051250 disease not phenotype-associated VAR_051251 commonName VAR_051251 VAR_051251 disease not phenotype-associated VAR_051252 commonName VAR_051252 VAR_051252 disease not phenotype-associated VAR_051253 commonName VAR_051253 VAR_051253 disease not phenotype-associated VAR_051254 commonName VAR_051254 VAR_051254 disease not phenotype-associated VAR_051255 commonName VAR_051255 VAR_051255 disease not phenotype-associated VAR_051256 commonName VAR_051256 VAR_051256 disease not phenotype-associated VAR_051257 commonName VAR_051257 VAR_051257 disease not phenotype-associated VAR_051258 commonName VAR_051258 VAR_051258 disease not phenotype-associated VAR_051259 commonName VAR_051259 VAR_051259 disease not phenotype-associated VAR_051260 commonName VAR_051260 VAR_051260 disease not phenotype-associated VAR_051261 commonName VAR_051261 VAR_051261 disease not phenotype-associated VAR_051262 commonName VAR_051262 VAR_051262 disease not phenotype-associated VAR_051263 commonName VAR_051263 VAR_051263 disease not phenotype-associated VAR_051264 commonName VAR_051264 VAR_051264 disease not phenotype-associated VAR_051265 commonName VAR_051265 VAR_051265 disease not phenotype-associated VAR_051266 commonName VAR_051266 VAR_051266 disease not phenotype-associated VAR_051267 commonName VAR_051267 VAR_051267 disease not phenotype-associated VAR_051268 commonName VAR_051268 VAR_051268 disease not phenotype-associated VAR_051269 commonName VAR_051269 VAR_051269 disease not phenotype-associated VAR_051270 commonName VAR_051270 VAR_051270 disease not phenotype-associated VAR_051272 commonName VAR_051272 VAR_051272 disease not phenotype-associated VAR_051273 commonName VAR_051273 VAR_051273 disease not phenotype-associated VAR_051274 commonName VAR_051274 VAR_051274 disease not phenotype-associated VAR_051276 commonName VAR_051276 VAR_051276 disease not phenotype-associated VAR_051277 commonName VAR_051277 VAR_051277 disease not phenotype-associated VAR_051278 commonName VAR_051278 VAR_051278 disease not phenotype-associated VAR_051279 commonName VAR_051279 VAR_051279 disease not phenotype-associated VAR_051280 commonName VAR_051280 VAR_051280 disease not phenotype-associated VAR_051281 commonName VAR_051281 VAR_051281 disease not phenotype-associated VAR_051282 commonName VAR_051282 VAR_051282 disease not phenotype-associated VAR_051283 commonName VAR_051283 VAR_051283 disease not phenotype-associated VAR_051284 commonName VAR_051284 VAR_051284 disease not phenotype-associated VAR_051285 commonName VAR_051285 VAR_051285 disease not phenotype-associated VAR_051286 commonName VAR_051286 VAR_051286 disease not phenotype-associated VAR_051287 commonName VAR_051287 VAR_051287 disease not phenotype-associated VAR_051288 commonName VAR_051288 VAR_051288 disease not phenotype-associated VAR_051289 commonName VAR_051289 VAR_051289 disease not phenotype-associated VAR_051290 commonName VAR_051290 VAR_051290 disease not phenotype-associated VAR_051291 commonName VAR_051291 VAR_051291 disease not phenotype-associated VAR_051292 commonName VAR_051292 VAR_051292 disease not phenotype-associated VAR_051293 commonName VAR_051293 VAR_051293 disease not phenotype-associated VAR_051294 commonName VAR_051294 VAR_051294 disease not phenotype-associated VAR_051295 commonName VAR_051295 VAR_051295 disease not phenotype-associated VAR_051296 commonName VAR_051296 VAR_051296 disease not phenotype-associated VAR_051297 commonName VAR_051297 VAR_051297 disease not phenotype-associated VAR_051298 commonName VAR_051298 VAR_051298 disease not phenotype-associated VAR_051299 commonName VAR_051299 VAR_051299 disease not phenotype-associated VAR_051300 commonName VAR_051300 VAR_051300 disease not phenotype-associated VAR_051301 commonName VAR_051301 VAR_051301 disease not phenotype-associated VAR_051302 commonName VAR_051302 VAR_051302 disease not phenotype-associated VAR_051304 commonName VAR_051304 VAR_051304 disease not phenotype-associated VAR_051305 commonName VAR_051305 VAR_051305 disease not phenotype-associated VAR_051306 commonName VAR_051306 VAR_051306 disease not phenotype-associated VAR_051308 commonName VAR_051308 VAR_051308 disease not phenotype-associated VAR_051309 commonName VAR_051309 VAR_051309 disease not phenotype-associated VAR_051310 commonName VAR_051310 VAR_051310 disease not phenotype-associated VAR_051311 commonName VAR_051311 VAR_051311 disease not phenotype-associated VAR_051312 commonName VAR_051312 VAR_051312 disease not phenotype-associated VAR_051313 commonName VAR_051313 VAR_051313 disease not phenotype-associated VAR_051315 commonName VAR_051315 VAR_051315 disease not phenotype-associated VAR_051316 commonName VAR_051316 VAR_051316 disease not phenotype-associated VAR_051317 commonName VAR_051317 VAR_051317 disease not phenotype-associated VAR_051318 commonName VAR_051318 VAR_051318 disease not phenotype-associated VAR_051319 commonName VAR_051319 VAR_051319 disease not phenotype-associated VAR_051320 commonName VAR_051320 VAR_051320 disease not phenotype-associated VAR_051321 commonName VAR_051321 VAR_051321 disease not phenotype-associated VAR_051322 commonName VAR_051322 VAR_051322 disease not phenotype-associated VAR_051323 commonName VAR_051323 VAR_051323 disease not phenotype-associated VAR_051324 commonName VAR_051324 VAR_051324 disease not phenotype-associated VAR_051325 commonName VAR_051325 VAR_051325 disease not phenotype-associated VAR_051326 commonName VAR_051326 VAR_051326 disease not phenotype-associated VAR_051327 commonName VAR_051327 VAR_051327 disease not phenotype-associated VAR_051328 commonName VAR_051328 VAR_051328 disease not phenotype-associated VAR_051329 commonName VAR_051329 VAR_051329 disease not phenotype-associated VAR_051330 commonName VAR_051330 VAR_051330 disease not phenotype-associated VAR_051331 commonName VAR_051331 VAR_051331 disease not phenotype-associated VAR_051332 commonName VAR_051332 VAR_051332 disease not phenotype-associated VAR_051333 commonName VAR_051333 VAR_051333 disease not phenotype-associated VAR_051334 commonName VAR_051334 VAR_051334 disease not phenotype-associated VAR_051335 commonName VAR_051335 VAR_051335 disease not phenotype-associated VAR_051336 commonName VAR_051336 VAR_051336 disease not phenotype-associated VAR_051337 commonName VAR_051337 VAR_051337 disease not phenotype-associated VAR_051339 commonName VAR_051339 VAR_051339 disease not phenotype-associated VAR_051341 commonName VAR_051341 VAR_051341 disease not phenotype-associated VAR_051342 commonName VAR_051342 VAR_051342 disease not phenotype-associated VAR_051343 commonName VAR_051343 VAR_051343 disease not phenotype-associated VAR_051344 commonName VAR_051344 VAR_051344 disease not phenotype-associated VAR_051345 commonName VAR_051345 VAR_051345 disease not phenotype-associated VAR_051346 commonName VAR_051346 VAR_051346 disease not phenotype-associated VAR_051347 commonName VAR_051347 VAR_051347 disease not phenotype-associated VAR_051348 commonName VAR_051348 VAR_051348 disease not phenotype-associated VAR_051349 commonName VAR_051349 VAR_051349 disease not phenotype-associated VAR_051350 commonName VAR_051350 VAR_051350 disease not phenotype-associated VAR_051351 commonName VAR_051351 VAR_051351 disease not phenotype-associated VAR_051352 commonName VAR_051352 VAR_051352 disease not phenotype-associated VAR_051353 commonName VAR_051353 VAR_051353 disease not phenotype-associated VAR_051354 commonName VAR_051354 VAR_051354 disease not phenotype-associated VAR_051355 commonName VAR_051355 VAR_051355 disease not phenotype-associated VAR_051356 commonName VAR_051356 VAR_051356 disease not phenotype-associated VAR_051357 commonName VAR_051357 VAR_051357 disease not phenotype-associated VAR_051358 commonName VAR_051358 VAR_051358 disease not phenotype-associated VAR_051359 commonName VAR_051359 VAR_051359 disease not phenotype-associated VAR_051360 commonName VAR_051360 VAR_051360 disease not phenotype-associated VAR_051361 commonName VAR_051361 VAR_051361 disease not phenotype-associated VAR_051362 commonName VAR_051362 VAR_051362 disease not phenotype-associated VAR_051363 commonName VAR_051363 VAR_051363 disease not phenotype-associated VAR_051364 commonName VAR_051364 VAR_051364 disease not phenotype-associated VAR_051365 commonName VAR_051365 VAR_051365 disease not phenotype-associated VAR_051367 commonName VAR_051367 VAR_051367 disease not phenotype-associated VAR_051369 commonName VAR_051369 VAR_051369 disease not phenotype-associated VAR_051370 commonName VAR_051370 VAR_051370 disease not phenotype-associated VAR_051371 commonName VAR_051371 VAR_051371 disease not phenotype-associated VAR_051372 commonName VAR_051372 VAR_051372 disease not phenotype-associated VAR_051373 commonName VAR_051373 VAR_051373 disease not phenotype-associated VAR_051375 commonName VAR_051375 VAR_051375 disease not phenotype-associated VAR_051376 commonName VAR_051376 VAR_051376 disease not phenotype-associated VAR_051377 commonName VAR_051377 VAR_051377 disease not phenotype-associated VAR_051378 commonName VAR_051378 VAR_051378 disease not phenotype-associated VAR_051379 commonName VAR_051379 VAR_051379 disease not phenotype-associated VAR_051380 commonName VAR_051380 VAR_051380 disease not phenotype-associated VAR_051381 commonName VAR_051381 VAR_051381 disease not phenotype-associated VAR_051382 commonName VAR_051382 VAR_051382 disease not phenotype-associated VAR_051383 commonName VAR_051383 VAR_051383 disease not phenotype-associated VAR_051384 commonName VAR_051384 VAR_051384 disease not phenotype-associated VAR_051385 commonName VAR_051385 VAR_051385 disease not phenotype-associated VAR_051386 commonName VAR_051386 VAR_051386 disease not phenotype-associated VAR_051388 commonName VAR_051388 VAR_051388 disease not phenotype-associated VAR_051389 commonName VAR_051389 VAR_051389 disease not phenotype-associated VAR_051390 commonName VAR_051390 VAR_051390 disease not phenotype-associated VAR_051391 commonName VAR_051391 VAR_051391 disease not phenotype-associated VAR_051392 commonName VAR_051392 VAR_051392 disease not phenotype-associated VAR_051393 commonName VAR_051393 VAR_051393 disease not phenotype-associated VAR_051394 commonName VAR_051394 VAR_051394 disease not phenotype-associated VAR_051395 commonName VAR_051395 VAR_051395 disease not phenotype-associated VAR_051396 commonName VAR_051396 VAR_051396 disease not phenotype-associated VAR_051397 commonName VAR_051397 VAR_051397 disease not phenotype-associated VAR_051398 commonName VAR_051398 VAR_051398 disease not phenotype-associated VAR_051399 commonName VAR_051399 VAR_051399 disease not phenotype-associated VAR_051400 commonName VAR_051400 VAR_051400 disease not phenotype-associated VAR_051401 commonName VAR_051401 VAR_051401 disease not phenotype-associated VAR_051402 commonName VAR_051402 VAR_051402 disease not phenotype-associated VAR_051403 commonName VAR_051403 VAR_051403 disease not phenotype-associated VAR_051404 commonName VAR_051404 VAR_051404 disease not phenotype-associated VAR_051405 commonName VAR_051405 VAR_051405 disease not phenotype-associated VAR_051406 commonName VAR_051406 VAR_051406 disease not phenotype-associated VAR_051407 commonName VAR_051407 VAR_051407 disease not phenotype-associated VAR_051408 commonName VAR_051408 VAR_051408 disease not phenotype-associated VAR_051409 commonName VAR_051409 VAR_051409 disease not phenotype-associated VAR_051410 commonName VAR_051410 VAR_051410 disease not phenotype-associated VAR_051411 commonName VAR_051411 VAR_051411 disease not phenotype-associated VAR_051412 commonName VAR_051412 VAR_051412 disease not phenotype-associated VAR_051415 commonName VAR_051415 VAR_051415 disease not phenotype-associated VAR_051416 commonName VAR_051416 VAR_051416 disease not phenotype-associated VAR_051417 commonName VAR_051417 VAR_051417 disease not phenotype-associated VAR_051418 commonName VAR_051418 VAR_051418 disease not phenotype-associated VAR_051419 commonName VAR_051419 VAR_051419 disease not phenotype-associated VAR_051420 commonName VAR_051420 VAR_051420 disease not phenotype-associated VAR_051421 commonName VAR_051421 VAR_051421 disease not phenotype-associated VAR_051422 commonName VAR_051422 VAR_051422 disease not phenotype-associated VAR_051423 commonName VAR_051423 VAR_051423 disease not phenotype-associated VAR_051424 commonName VAR_051424 VAR_051424 disease not phenotype-associated VAR_051425 commonName VAR_051425 VAR_051425 disease not phenotype-associated VAR_051426 commonName VAR_051426 VAR_051426 disease not phenotype-associated VAR_051427 commonName VAR_051427 VAR_051427 disease not phenotype-associated VAR_051428 commonName VAR_051428 VAR_051428 disease not phenotype-associated VAR_051429 commonName VAR_051429 VAR_051429 disease not phenotype-associated VAR_051430 commonName VAR_051430 VAR_051430 disease not phenotype-associated VAR_051431 commonName VAR_051431 VAR_051431 disease not phenotype-associated VAR_051432 commonName VAR_051432 VAR_051432 disease not phenotype-associated VAR_051433 commonName VAR_051433 VAR_051433 disease not phenotype-associated VAR_051434 commonName VAR_051434 VAR_051434 disease not phenotype-associated VAR_051435 commonName VAR_051435 VAR_051435 disease not phenotype-associated VAR_051436 commonName VAR_051436 VAR_051436 disease not phenotype-associated VAR_051437 commonName VAR_051437 VAR_051437 disease not phenotype-associated VAR_051438 commonName VAR_051438 VAR_051438 disease not phenotype-associated VAR_051439 commonName VAR_051439 VAR_051439 disease not phenotype-associated VAR_051440 commonName VAR_051440 VAR_051440 disease not phenotype-associated VAR_051441 commonName VAR_051441 VAR_051441 disease not phenotype-associated VAR_051442 commonName VAR_051442 VAR_051442 disease not phenotype-associated VAR_051443 commonName VAR_051443 VAR_051443 disease not phenotype-associated VAR_051444 commonName VAR_051444 VAR_051444 disease not phenotype-associated VAR_051445 commonName VAR_051445 VAR_051445 disease not phenotype-associated VAR_051446 commonName VAR_051446 VAR_051446 disease not phenotype-associated VAR_051447 commonName VAR_051447 VAR_051447 disease not phenotype-associated VAR_051448 commonName VAR_051448 VAR_051448 disease not phenotype-associated VAR_051449 commonName VAR_051449 VAR_051449 disease not phenotype-associated VAR_051450 commonName VAR_051450 VAR_051450 disease not phenotype-associated VAR_051451 commonName VAR_051451 VAR_051451 disease not phenotype-associated VAR_051452 commonName VAR_051452 VAR_051452 disease not phenotype-associated VAR_051453 commonName VAR_051453 VAR_051453 disease not phenotype-associated VAR_051454 commonName VAR_051454 VAR_051454 disease not phenotype-associated VAR_051455 commonName VAR_051455 VAR_051455 disease not phenotype-associated VAR_051456 commonName VAR_051456 VAR_051456 disease not phenotype-associated VAR_051457 commonName VAR_051457 VAR_051457 disease not phenotype-associated VAR_051458 commonName VAR_051458 VAR_051458 disease not phenotype-associated VAR_051459 commonName VAR_051459 VAR_051459 disease not phenotype-associated VAR_051460 commonName VAR_051460 VAR_051460 disease not phenotype-associated VAR_051461 commonName VAR_051461 VAR_051461 disease not phenotype-associated VAR_051462 commonName VAR_051462 VAR_051462 disease not phenotype-associated VAR_051463 commonName VAR_051463 VAR_051463 disease not phenotype-associated VAR_051464 commonName VAR_051464 VAR_051464 disease not phenotype-associated VAR_051465 commonName VAR_051465 VAR_051465 disease not phenotype-associated VAR_051466 commonName VAR_051466 VAR_051466 disease not phenotype-associated VAR_051469 commonName VAR_051469 VAR_051469 disease not phenotype-associated VAR_051470 commonName VAR_051470 VAR_051470 disease not phenotype-associated VAR_051471 commonName VAR_051471 VAR_051471 disease not phenotype-associated VAR_051472 commonName VAR_051472 VAR_051472 disease not phenotype-associated VAR_051473 commonName VAR_051473 VAR_051473 disease not phenotype-associated VAR_051474 commonName VAR_051474 VAR_051474 disease not phenotype-associated VAR_051475 commonName VAR_051475 VAR_051475 disease not phenotype-associated VAR_051476 commonName VAR_051476 VAR_051476 disease not phenotype-associated VAR_051477 commonName VAR_051477 VAR_051477 disease not phenotype-associated VAR_051478 commonName VAR_051478 VAR_051478 disease not phenotype-associated VAR_051479 commonName VAR_051479 VAR_051479 disease not phenotype-associated VAR_051480 commonName VAR_051480 VAR_051480 disease not phenotype-associated VAR_051482 commonName VAR_051482 VAR_051482 disease not phenotype-associated VAR_051483 commonName VAR_051483 VAR_051483 disease not phenotype-associated VAR_051484 commonName VAR_051484 VAR_051484 disease not phenotype-associated VAR_051485 commonName VAR_051485 VAR_051485 disease not phenotype-associated VAR_051486 commonName VAR_051486 VAR_051486 disease not phenotype-associated VAR_051487 commonName VAR_051487 VAR_051487 disease not phenotype-associated VAR_051489 commonName VAR_051489 VAR_051489 disease not phenotype-associated VAR_051490 commonName VAR_051490 VAR_051490 disease not phenotype-associated VAR_051491 commonName VAR_051491 VAR_051491 disease not phenotype-associated VAR_051493 commonName VAR_051493 VAR_051493 disease not phenotype-associated VAR_051494 commonName VAR_051494 VAR_051494 disease not phenotype-associated VAR_051495 commonName VAR_051495 VAR_051495 disease not phenotype-associated VAR_051496 commonName VAR_051496 VAR_051496 disease not phenotype-associated VAR_051497 commonName VAR_051497 VAR_051497 disease not phenotype-associated VAR_051499 commonName VAR_051499 VAR_051499 disease not phenotype-associated VAR_051500 commonName VAR_051500 VAR_051500 disease not phenotype-associated VAR_051501 commonName VAR_051501 VAR_051501 disease not phenotype-associated VAR_051502 commonName VAR_051502 VAR_051502 disease not phenotype-associated VAR_051503 commonName VAR_051503 VAR_051503 disease not phenotype-associated VAR_051504 commonName VAR_051504 VAR_051504 disease not phenotype-associated VAR_051505 commonName VAR_051505 VAR_051505 disease not phenotype-associated VAR_051506 commonName VAR_051506 VAR_051506 disease not phenotype-associated VAR_051507 commonName VAR_051507 VAR_051507 disease not phenotype-associated VAR_051508 commonName VAR_051508 VAR_051508 disease not phenotype-associated VAR_051509 commonName VAR_051509 VAR_051509 disease not phenotype-associated VAR_051510 commonName VAR_051510 VAR_051510 disease not phenotype-associated VAR_051511 commonName VAR_051511 VAR_051511 disease not phenotype-associated VAR_051512 commonName VAR_051512 VAR_051512 disease not phenotype-associated VAR_051513 commonName VAR_051513 VAR_051513 disease not phenotype-associated VAR_051514 commonName VAR_051514 VAR_051514 disease not phenotype-associated VAR_051516 commonName VAR_051516 VAR_051516 disease not phenotype-associated VAR_051517 commonName VAR_051517 VAR_051517 disease not phenotype-associated VAR_051518 commonName VAR_051518 VAR_051518 disease not phenotype-associated VAR_051519 commonName VAR_051519 VAR_051519 disease not phenotype-associated VAR_051520 commonName VAR_051520 VAR_051520 disease not phenotype-associated VAR_051522 commonName VAR_051522 VAR_051522 disease not phenotype-associated VAR_051523 commonName VAR_051523 VAR_051523 disease not phenotype-associated VAR_051524 commonName VAR_051524 VAR_051524 disease not phenotype-associated VAR_051525 commonName VAR_051525 VAR_051525 disease not phenotype-associated VAR_051528 commonName VAR_051528 VAR_051528 disease not phenotype-associated VAR_051529 commonName VAR_051529 VAR_051529 disease not phenotype-associated VAR_051530 commonName VAR_051530 VAR_051530 disease not phenotype-associated VAR_051531 commonName VAR_051531 VAR_051531 disease not phenotype-associated VAR_051532 commonName VAR_051532 VAR_051532 disease not phenotype-associated VAR_051533 commonName VAR_051533 VAR_051533 disease not phenotype-associated VAR_051534 commonName VAR_051534 VAR_051534 disease not phenotype-associated VAR_051535 commonName VAR_051535 VAR_051535 disease not phenotype-associated VAR_051536 commonName VAR_051536 VAR_051536 disease not phenotype-associated VAR_051540 commonName VAR_051540 VAR_051540 disease not phenotype-associated VAR_051542 commonName VAR_051542 VAR_051542 disease not phenotype-associated VAR_051544 commonName VAR_051544 VAR_051544 disease not phenotype-associated VAR_051547 commonName VAR_051547 VAR_051547 disease not phenotype-associated VAR_051549 commonName VAR_051549 VAR_051549 disease not phenotype-associated VAR_051550 commonName VAR_051550 VAR_051550 disease not phenotype-associated VAR_051554 commonName VAR_051554 VAR_051554 disease not phenotype-associated VAR_051555 commonName VAR_051555 VAR_051555 disease not phenotype-associated VAR_051556 commonName VAR_051556 VAR_051556 disease not phenotype-associated VAR_051557 commonName VAR_051557 VAR_051557 disease not phenotype-associated VAR_051559 commonName VAR_051559 VAR_051559 disease not phenotype-associated VAR_051560 commonName VAR_051560 VAR_051560 disease not phenotype-associated VAR_051561 commonName VAR_051561 VAR_051561 disease not phenotype-associated VAR_051562 commonName VAR_051562 VAR_051562 disease not phenotype-associated VAR_051563 commonName VAR_051563 VAR_051563 disease not phenotype-associated VAR_051564 commonName VAR_051564 VAR_051564 disease not phenotype-associated VAR_051565 commonName VAR_051565 VAR_051565 disease not phenotype-associated VAR_051567 commonName VAR_051567 VAR_051567 disease not phenotype-associated VAR_051568 commonName VAR_051568 VAR_051568 disease not phenotype-associated VAR_051569 commonName VAR_051569 VAR_051569 disease not phenotype-associated VAR_051570 commonName VAR_051570 VAR_051570 disease not phenotype-associated VAR_051571 commonName VAR_051571 VAR_051571 disease not phenotype-associated VAR_051574 commonName VAR_051574 VAR_051574 disease not phenotype-associated VAR_051575 commonName VAR_051575 VAR_051575 disease not phenotype-associated VAR_051576 commonName VAR_051576 VAR_051576 disease not phenotype-associated VAR_051577 commonName VAR_051577 VAR_051577 disease not phenotype-associated VAR_051578 commonName VAR_051578 VAR_051578 disease not phenotype-associated VAR_051579 commonName VAR_051579 VAR_051579 disease not phenotype-associated VAR_051580 commonName VAR_051580 VAR_051580 disease not phenotype-associated VAR_051581 commonName VAR_051581 VAR_051581 disease not phenotype-associated VAR_051582 commonName VAR_051582 VAR_051582 disease not phenotype-associated VAR_051583 commonName VAR_051583 VAR_051583 disease not phenotype-associated VAR_051584 commonName VAR_051584 VAR_051584 disease not phenotype-associated VAR_051586 commonName VAR_051586 VAR_051586 disease not phenotype-associated VAR_051587 commonName VAR_051587 VAR_051587 disease not phenotype-associated VAR_051588 commonName VAR_051588 VAR_051588 disease not phenotype-associated VAR_051589 commonName VAR_051589 VAR_051589 disease not phenotype-associated VAR_051590 commonName VAR_051590 VAR_051590 disease not phenotype-associated VAR_051591 commonName VAR_051591 VAR_051591 disease not phenotype-associated VAR_051592 commonName VAR_051592 VAR_051592 disease not phenotype-associated VAR_051593 commonName VAR_051593 VAR_051593 disease not phenotype-associated VAR_051594 commonName VAR_051594 VAR_051594 disease not phenotype-associated VAR_051595 commonName VAR_051595 VAR_051595 disease not phenotype-associated VAR_051596 commonName VAR_051596 VAR_051596 disease not phenotype-associated VAR_051597 commonName VAR_051597 VAR_051597 disease not phenotype-associated VAR_051599 commonName VAR_051599 VAR_051599 disease not phenotype-associated VAR_051601 commonName VAR_051601 VAR_051601 disease not phenotype-associated VAR_051602 commonName VAR_051602 VAR_051602 disease not phenotype-associated VAR_051603 commonName VAR_051603 VAR_051603 disease not phenotype-associated VAR_051606 commonName VAR_051606 VAR_051606 disease not phenotype-associated VAR_051607 commonName VAR_051607 VAR_051607 disease not phenotype-associated VAR_051608 commonName VAR_051608 VAR_051608 disease not phenotype-associated VAR_051609 commonName VAR_051609 VAR_051609 disease not phenotype-associated VAR_051610 commonName VAR_051610 VAR_051610 disease not phenotype-associated VAR_051611 commonName VAR_051611 VAR_051611 disease not phenotype-associated VAR_051612 commonName VAR_051612 VAR_051612 disease not phenotype-associated VAR_051613 commonName VAR_051613 VAR_051613 disease not phenotype-associated VAR_051614 commonName VAR_051614 VAR_051614 disease not phenotype-associated VAR_051615 commonName VAR_051615 VAR_051615 disease not phenotype-associated VAR_051616 commonName VAR_051616 VAR_051616 disease not phenotype-associated VAR_051617 commonName VAR_051617 VAR_051617 disease not phenotype-associated VAR_051618 commonName VAR_051618 VAR_051618 disease not phenotype-associated VAR_051619 commonName VAR_051619 VAR_051619 disease not phenotype-associated VAR_051621 commonName VAR_051621 VAR_051621 disease not phenotype-associated VAR_051622 commonName VAR_051622 VAR_051622 disease not phenotype-associated VAR_051623 commonName VAR_051623 VAR_051623 disease not phenotype-associated VAR_051624 commonName VAR_051624 VAR_051624 disease not phenotype-associated VAR_051625 commonName VAR_051625 VAR_051625 disease not phenotype-associated VAR_051626 commonName VAR_051626 VAR_051626 disease not phenotype-associated VAR_051627 commonName VAR_051627 VAR_051627 disease not phenotype-associated VAR_051628 commonName VAR_051628 VAR_051628 disease not phenotype-associated VAR_051629 commonName VAR_051629 VAR_051629 disease not phenotype-associated VAR_051630 commonName VAR_051630 VAR_051630 disease not phenotype-associated VAR_051631 commonName VAR_051631 VAR_051631 disease not phenotype-associated VAR_051632 commonName VAR_051632 VAR_051632 disease not phenotype-associated VAR_051633 commonName VAR_051633 VAR_051633 disease not phenotype-associated VAR_051634 commonName VAR_051634 VAR_051634 disease not phenotype-associated VAR_051635 commonName VAR_051635 VAR_051635 disease not phenotype-associated VAR_051636 commonName VAR_051636 VAR_051636 disease not phenotype-associated VAR_051637 commonName VAR_051637 VAR_051637 disease not phenotype-associated VAR_051638 commonName VAR_051638 VAR_051638 disease not phenotype-associated VAR_051639 commonName VAR_051639 VAR_051639 disease not phenotype-associated VAR_051640 commonName VAR_051640 VAR_051640 disease not phenotype-associated VAR_051641 commonName VAR_051641 VAR_051641 disease not phenotype-associated VAR_051643 commonName VAR_051643 VAR_051643 disease not phenotype-associated VAR_051644 commonName VAR_051644 VAR_051644 disease not phenotype-associated VAR_051645 commonName VAR_051645 VAR_051645 disease not phenotype-associated VAR_051646 commonName VAR_051646 VAR_051646 disease not phenotype-associated VAR_051647 commonName VAR_051647 VAR_051647 disease not phenotype-associated VAR_051648 commonName VAR_051648 VAR_051648 disease not phenotype-associated VAR_051650 commonName VAR_051650 VAR_051650 disease not phenotype-associated VAR_051651 commonName VAR_051651 VAR_051651 disease not phenotype-associated VAR_051652 commonName VAR_051652 VAR_051652 disease not phenotype-associated VAR_051653 commonName VAR_051653 VAR_051653 disease not phenotype-associated VAR_051654 commonName VAR_051654 VAR_051654 disease not phenotype-associated VAR_051655 commonName VAR_051655 VAR_051655 disease not phenotype-associated VAR_051656 commonName VAR_051656 VAR_051656 disease not phenotype-associated VAR_051657 commonName VAR_051657 VAR_051657 disease not phenotype-associated VAR_051658 commonName VAR_051658 VAR_051658 disease not phenotype-associated VAR_051659 commonName VAR_051659 VAR_051659 disease not phenotype-associated VAR_051660 commonName VAR_051660 VAR_051660 disease not phenotype-associated VAR_051661 commonName VAR_051661 VAR_051661 disease not phenotype-associated VAR_051662 commonName VAR_051662 VAR_051662 disease not phenotype-associated VAR_051663 commonName VAR_051663 VAR_051663 disease not phenotype-associated VAR_051664 commonName VAR_051664 VAR_051664 disease not phenotype-associated VAR_051665 commonName VAR_051665 VAR_051665 disease not phenotype-associated VAR_051666 commonName VAR_051666 VAR_051666 disease not phenotype-associated VAR_051667 commonName VAR_051667 VAR_051667 disease not phenotype-associated VAR_051668 commonName VAR_051668 VAR_051668 disease not phenotype-associated VAR_051669 commonName VAR_051669 VAR_051669 disease not phenotype-associated VAR_051670 commonName VAR_051670 VAR_051670 disease not phenotype-associated VAR_051671 commonName VAR_051671 VAR_051671 disease not phenotype-associated VAR_051672 commonName VAR_051672 VAR_051672 disease not phenotype-associated VAR_051673 commonName VAR_051673 VAR_051673 disease not phenotype-associated VAR_051674 commonName VAR_051674 VAR_051674 disease not phenotype-associated VAR_051675 commonName VAR_051675 VAR_051675 disease not phenotype-associated VAR_051676 commonName VAR_051676 VAR_051676 disease not phenotype-associated VAR_051677 commonName VAR_051677 VAR_051677 disease not phenotype-associated VAR_051678 commonName VAR_051678 VAR_051678 disease not phenotype-associated VAR_051679 commonName VAR_051679 VAR_051679 disease not phenotype-associated VAR_051681 commonName VAR_051681 VAR_051681 disease not phenotype-associated VAR_051682 commonName VAR_051682 VAR_051682 disease not phenotype-associated VAR_051683 commonName VAR_051683 VAR_051683 disease not phenotype-associated VAR_051684 commonName VAR_051684 VAR_051684 disease not phenotype-associated VAR_051685 commonName VAR_051685 VAR_051685 disease not phenotype-associated VAR_051687 commonName VAR_051687 VAR_051687 disease not phenotype-associated VAR_051688 commonName VAR_051688 VAR_051688 disease not phenotype-associated VAR_051689 commonName VAR_051689 VAR_051689 disease not phenotype-associated VAR_051690 commonName VAR_051690 VAR_051690 disease not phenotype-associated VAR_051691 commonName VAR_051691 VAR_051691 disease not phenotype-associated VAR_051692 commonName VAR_051692 VAR_051692 disease not phenotype-associated VAR_051693 commonName VAR_051693 VAR_051693 disease not phenotype-associated VAR_051694 commonName VAR_051694 VAR_051694 disease not phenotype-associated VAR_051695 commonName VAR_051695 VAR_051695 disease not phenotype-associated VAR_051696 commonName VAR_051696 VAR_051696 disease not phenotype-associated VAR_051697 commonName VAR_051697 VAR_051697 disease not phenotype-associated VAR_051698 commonName VAR_051698 VAR_051698 disease not phenotype-associated VAR_051699 commonName VAR_051699 VAR_051699 disease not phenotype-associated VAR_051700 commonName VAR_051700 VAR_051700 disease not phenotype-associated VAR_051701 commonName VAR_051701 VAR_051701 disease not phenotype-associated VAR_051702 commonName VAR_051702 VAR_051702 disease not phenotype-associated VAR_051703 commonName VAR_051703 VAR_051703 disease not phenotype-associated VAR_051704 commonName VAR_051704 VAR_051704 disease not phenotype-associated VAR_051705 commonName VAR_051705 VAR_051705 disease not phenotype-associated VAR_051706 commonName VAR_051706 VAR_051706 disease not phenotype-associated VAR_051707 commonName VAR_051707 VAR_051707 disease not phenotype-associated VAR_051708 commonName VAR_051708 VAR_051708 disease not phenotype-associated VAR_051710 commonName VAR_051710 VAR_051710 disease not phenotype-associated VAR_051711 commonName VAR_051711 VAR_051711 disease not phenotype-associated VAR_051712 commonName VAR_051712 VAR_051712 disease not phenotype-associated VAR_051713 commonName VAR_051713 VAR_051713 disease not phenotype-associated VAR_051714 commonName VAR_051714 VAR_051714 disease not phenotype-associated VAR_051715 commonName VAR_051715 VAR_051715 disease not phenotype-associated VAR_051716 commonName VAR_051716 VAR_051716 disease not phenotype-associated VAR_051717 commonName VAR_051717 VAR_051717 disease not phenotype-associated VAR_051718 commonName VAR_051718 VAR_051718 disease not phenotype-associated VAR_051719 commonName VAR_051719 VAR_051719 disease not phenotype-associated VAR_051720 commonName VAR_051720 VAR_051720 disease not phenotype-associated VAR_051721 commonName VAR_051721 VAR_051721 disease not phenotype-associated VAR_051722 commonName VAR_051722 VAR_051722 disease not phenotype-associated VAR_051723 commonName VAR_051723 VAR_051723 disease not phenotype-associated VAR_051724 commonName VAR_051724 VAR_051724 disease not phenotype-associated VAR_051725 commonName VAR_051725 VAR_051725 disease not phenotype-associated VAR_051726 commonName VAR_051726 VAR_051726 disease not phenotype-associated VAR_051727 commonName VAR_051727 VAR_051727 disease not phenotype-associated VAR_051728 commonName VAR_051728 VAR_051728 disease not phenotype-associated VAR_051730 commonName VAR_051730 VAR_051730 disease not phenotype-associated VAR_051731 commonName VAR_051731 VAR_051731 disease not phenotype-associated VAR_051732 commonName VAR_051732 VAR_051732 disease not phenotype-associated VAR_051733 commonName VAR_051733 VAR_051733 disease not phenotype-associated VAR_051734 commonName VAR_051734 VAR_051734 disease not phenotype-associated VAR_051735 commonName VAR_051735 VAR_051735 disease not phenotype-associated VAR_051736 commonName VAR_051736 VAR_051736 disease not phenotype-associated VAR_051737 commonName VAR_051737 VAR_051737 disease not phenotype-associated VAR_051738 commonName VAR_051738 VAR_051738 disease not phenotype-associated VAR_051739 commonName VAR_051739 VAR_051739 disease not phenotype-associated VAR_051740 commonName VAR_051740 VAR_051740 disease not phenotype-associated VAR_051741 commonName VAR_051741 VAR_051741 disease not phenotype-associated VAR_051742 commonName VAR_051742 VAR_051742 disease not phenotype-associated VAR_051743 commonName VAR_051743 VAR_051743 disease not phenotype-associated VAR_051744 commonName VAR_051744 VAR_051744 disease not phenotype-associated VAR_051746 commonName VAR_051746 VAR_051746 disease not phenotype-associated VAR_051748 commonName VAR_051748 VAR_051748 disease not phenotype-associated VAR_051749 commonName VAR_051749 VAR_051749 disease not phenotype-associated VAR_051750 commonName VAR_051750 VAR_051750 disease not phenotype-associated VAR_051751 commonName VAR_051751 VAR_051751 disease not phenotype-associated VAR_051752 commonName VAR_051752 VAR_051752 disease not phenotype-associated VAR_051753 commonName VAR_051753 VAR_051753 disease not phenotype-associated VAR_051754 commonName VAR_051754 VAR_051754 disease not phenotype-associated VAR_051755 commonName VAR_051755 VAR_051755 disease not phenotype-associated VAR_051756 commonName VAR_051756 VAR_051756 disease not phenotype-associated VAR_051757 commonName VAR_051757 VAR_051757 disease not phenotype-associated VAR_051758 commonName VAR_051758 VAR_051758 disease not phenotype-associated VAR_051759 commonName VAR_051759 VAR_051759 disease not phenotype-associated VAR_051760 commonName VAR_051760 VAR_051760 disease not phenotype-associated VAR_051761 commonName VAR_051761 VAR_051761 disease not phenotype-associated VAR_051762 commonName VAR_051762 VAR_051762 disease not phenotype-associated VAR_051763 commonName VAR_051763 VAR_051763 disease not phenotype-associated VAR_051764 commonName VAR_051764 VAR_051764 disease not phenotype-associated VAR_051765 commonName VAR_051765 VAR_051765 disease not phenotype-associated VAR_051766 commonName VAR_051766 VAR_051766 disease not phenotype-associated VAR_051767 commonName VAR_051767 VAR_051767 disease not phenotype-associated VAR_051768 commonName VAR_051768 VAR_051768 disease not phenotype-associated VAR_051769 commonName VAR_051769 VAR_051769 disease not phenotype-associated VAR_051770 commonName VAR_051770 VAR_051770 disease not phenotype-associated VAR_051771 commonName VAR_051771 VAR_051771 disease not phenotype-associated VAR_051772 commonName VAR_051772 VAR_051772 disease not phenotype-associated VAR_051773 commonName VAR_051773 VAR_051773 disease not phenotype-associated VAR_051774 commonName VAR_051774 VAR_051774 disease not phenotype-associated VAR_051775 commonName VAR_051775 VAR_051775 disease not phenotype-associated VAR_051776 commonName VAR_051776 VAR_051776 disease not phenotype-associated VAR_051777 commonName VAR_051777 VAR_051777 disease not phenotype-associated VAR_051778 commonName VAR_051778 VAR_051778 disease not phenotype-associated VAR_051779 commonName VAR_051779 VAR_051779 disease not phenotype-associated VAR_051780 commonName VAR_051780 VAR_051780 disease not phenotype-associated VAR_051781 commonName VAR_051781 VAR_051781 disease not phenotype-associated VAR_051782 commonName VAR_051782 VAR_051782 disease not phenotype-associated VAR_051783 commonName VAR_051783 VAR_051783 disease not phenotype-associated VAR_051784 commonName VAR_051784 VAR_051784 disease not phenotype-associated VAR_051785 commonName VAR_051785 VAR_051785 disease not phenotype-associated VAR_051786 commonName VAR_051786 VAR_051786 disease not phenotype-associated VAR_051787 commonName VAR_051787 VAR_051787 disease not phenotype-associated VAR_051788 commonName VAR_051788 VAR_051788 disease not phenotype-associated VAR_051790 commonName VAR_051790 VAR_051790 disease not phenotype-associated VAR_051791 commonName VAR_051791 VAR_051791 disease not phenotype-associated VAR_051792 commonName VAR_051792 VAR_051792 disease not phenotype-associated VAR_051793 commonName VAR_051793 VAR_051793 disease not phenotype-associated VAR_051794 commonName VAR_051794 VAR_051794 disease not phenotype-associated VAR_051796 commonName VAR_051796 VAR_051796 disease not phenotype-associated VAR_051797 commonName VAR_051797 VAR_051797 disease not phenotype-associated VAR_051799 commonName VAR_051799 VAR_051799 disease not phenotype-associated VAR_051800 commonName VAR_051800 VAR_051800 disease not phenotype-associated VAR_051801 commonName VAR_051801 VAR_051801 disease not phenotype-associated VAR_051802 commonName VAR_051802 VAR_051802 disease not phenotype-associated VAR_051803 commonName VAR_051803 VAR_051803 disease not phenotype-associated VAR_051804 commonName VAR_051804 VAR_051804 disease not phenotype-associated VAR_051805 commonName VAR_051805 VAR_051805 disease not phenotype-associated VAR_051806 commonName VAR_051806 VAR_051806 disease not phenotype-associated VAR_051807 commonName VAR_051807 VAR_051807 disease not phenotype-associated VAR_051809 commonName VAR_051809 VAR_051809 disease not phenotype-associated VAR_051810 commonName VAR_051810 VAR_051810 disease not phenotype-associated VAR_051811 commonName VAR_051811 VAR_051811 disease not phenotype-associated VAR_051812 commonName VAR_051812 VAR_051812 disease not phenotype-associated VAR_051813 commonName VAR_051813 VAR_051813 disease not phenotype-associated VAR_051814 commonName VAR_051814 VAR_051814 disease not phenotype-associated VAR_051815 commonName VAR_051815 VAR_051815 disease not phenotype-associated VAR_051816 commonName VAR_051816 VAR_051816 disease not phenotype-associated VAR_051817 commonName VAR_051817 VAR_051817 disease not phenotype-associated VAR_051818 commonName VAR_051818 VAR_051818 disease not phenotype-associated VAR_051819 commonName VAR_051819 VAR_051819 disease not phenotype-associated VAR_051820 commonName VAR_051820 VAR_051820 disease not phenotype-associated VAR_051821 commonName VAR_051821 VAR_051821 disease not phenotype-associated VAR_051822 commonName VAR_051822 VAR_051822 disease not phenotype-associated VAR_051823 commonName VAR_051823 VAR_051823 disease not phenotype-associated VAR_051824 commonName VAR_051824 VAR_051824 disease not phenotype-associated VAR_051825 commonName VAR_051825 VAR_051825 disease not phenotype-associated VAR_051826 commonName VAR_051826 VAR_051826 disease not phenotype-associated VAR_051827 commonName VAR_051827 VAR_051827 disease not phenotype-associated VAR_051828 commonName VAR_051828 VAR_051828 disease not phenotype-associated VAR_051829 commonName VAR_051829 VAR_051829 disease not phenotype-associated VAR_051830 commonName VAR_051830 VAR_051830 disease not phenotype-associated VAR_051831 commonName VAR_051831 VAR_051831 disease not phenotype-associated VAR_051832 commonName VAR_051832 VAR_051832 disease not phenotype-associated VAR_051833 commonName VAR_051833 VAR_051833 disease not phenotype-associated VAR_051834 commonName VAR_051834 VAR_051834 disease not phenotype-associated VAR_051835 commonName VAR_051835 VAR_051835 disease not phenotype-associated VAR_051836 commonName VAR_051836 VAR_051836 disease not phenotype-associated VAR_051837 commonName VAR_051837 VAR_051837 disease not phenotype-associated VAR_051838 commonName VAR_051838 VAR_051838 disease not phenotype-associated VAR_051839 commonName VAR_051839 VAR_051839 disease not phenotype-associated VAR_051840 commonName VAR_051840 VAR_051840 disease not phenotype-associated VAR_051841 commonName VAR_051841 VAR_051841 disease not phenotype-associated VAR_051842 commonName VAR_051842 VAR_051842 disease not phenotype-associated VAR_051843 commonName VAR_051843 VAR_051843 disease not phenotype-associated VAR_051844 commonName VAR_051844 VAR_051844 disease not phenotype-associated VAR_051845 commonName VAR_051845 VAR_051845 disease not phenotype-associated VAR_051846 commonName VAR_051846 VAR_051846 disease not phenotype-associated VAR_051848 commonName VAR_051848 VAR_051848 disease not phenotype-associated VAR_051849 commonName VAR_051849 VAR_051849 disease not phenotype-associated VAR_051850 commonName VAR_051850 VAR_051850 disease not phenotype-associated VAR_051851 commonName VAR_051851 VAR_051851 disease not phenotype-associated VAR_051852 commonName VAR_051852 VAR_051852 disease not phenotype-associated VAR_051855 commonName VAR_051855 VAR_051855 disease not phenotype-associated VAR_051856 commonName VAR_051856 VAR_051856 disease not phenotype-associated VAR_051857 commonName VAR_051857 VAR_051857 disease not phenotype-associated VAR_051859 commonName VAR_051859 VAR_051859 disease not phenotype-associated VAR_051860 commonName VAR_051860 VAR_051860 disease not phenotype-associated VAR_051861 commonName VAR_051861 VAR_051861 disease not phenotype-associated VAR_051862 commonName VAR_051862 VAR_051862 disease not phenotype-associated VAR_051863 commonName VAR_051863 VAR_051863 disease not phenotype-associated VAR_051864 commonName VAR_051864 VAR_051864 disease not phenotype-associated VAR_051865 commonName VAR_051865 VAR_051865 disease not phenotype-associated VAR_051866 commonName VAR_051866 VAR_051866 disease not phenotype-associated VAR_051867 commonName VAR_051867 VAR_051867 disease not phenotype-associated VAR_051868 commonName VAR_051868 VAR_051868 disease not phenotype-associated VAR_051869 commonName VAR_051869 VAR_051869 disease not phenotype-associated VAR_051870 commonName VAR_051870 VAR_051870 disease not phenotype-associated VAR_051871 commonName VAR_051871 VAR_051871 disease not phenotype-associated VAR_051872 commonName VAR_051872 VAR_051872 disease not phenotype-associated VAR_051873 commonName VAR_051873 VAR_051873 disease not phenotype-associated VAR_051874 commonName VAR_051874 VAR_051874 disease not phenotype-associated VAR_051875 commonName VAR_051875 VAR_051875 disease not phenotype-associated VAR_051876 commonName VAR_051876 VAR_051876 disease not phenotype-associated VAR_051877 commonName VAR_051877 VAR_051877 disease not phenotype-associated VAR_051878 commonName VAR_051878 VAR_051878 disease not phenotype-associated VAR_051879 commonName VAR_051879 VAR_051879 disease not phenotype-associated VAR_051880 commonName VAR_051880 VAR_051880 disease not phenotype-associated VAR_051881 commonName VAR_051881 VAR_051881 disease not phenotype-associated VAR_051882 commonName VAR_051882 VAR_051882 disease not phenotype-associated VAR_051883 commonName VAR_051883 VAR_051883 disease not phenotype-associated VAR_051884 commonName VAR_051884 VAR_051884 disease not phenotype-associated VAR_051885 commonName VAR_051885 VAR_051885 disease not phenotype-associated VAR_051886 commonName VAR_051886 VAR_051886 disease not phenotype-associated VAR_051887 commonName VAR_051887 VAR_051887 disease not phenotype-associated VAR_051888 commonName VAR_051888 VAR_051888 disease not phenotype-associated VAR_051889 commonName VAR_051889 VAR_051889 disease not phenotype-associated VAR_051890 commonName VAR_051890 VAR_051890 disease not phenotype-associated VAR_051891 commonName VAR_051891 VAR_051891 disease not phenotype-associated VAR_051892 commonName VAR_051892 VAR_051892 disease not phenotype-associated VAR_051893 commonName VAR_051893 VAR_051893 disease not phenotype-associated VAR_051894 commonName VAR_051894 VAR_051894 disease not phenotype-associated VAR_051895 commonName VAR_051895 VAR_051895 disease not phenotype-associated VAR_051896 commonName VAR_051896 VAR_051896 disease not phenotype-associated VAR_051897 commonName VAR_051897 VAR_051897 disease not phenotype-associated VAR_051898 commonName VAR_051898 VAR_051898 disease not phenotype-associated VAR_051899 commonName VAR_051899 VAR_051899 disease not phenotype-associated VAR_051900 commonName VAR_051900 VAR_051900 disease not phenotype-associated VAR_051901 commonName VAR_051901 VAR_051901 disease not phenotype-associated VAR_051902 commonName VAR_051902 VAR_051902 disease not phenotype-associated VAR_051905 commonName VAR_051905 VAR_051905 disease not phenotype-associated VAR_051906 commonName VAR_051906 VAR_051906 disease not phenotype-associated VAR_051907 commonName VAR_051907 VAR_051907 disease not phenotype-associated VAR_051908 commonName VAR_051908 VAR_051908 disease not phenotype-associated VAR_051909 commonName VAR_051909 VAR_051909 disease not phenotype-associated VAR_051910 commonName VAR_051910 VAR_051910 disease not phenotype-associated VAR_051911 commonName VAR_051911 VAR_051911 disease not phenotype-associated VAR_051912 commonName VAR_051912 VAR_051912 disease not phenotype-associated VAR_051913 commonName VAR_051913 VAR_051913 disease not phenotype-associated VAR_051914 commonName VAR_051914 VAR_051914 disease not phenotype-associated VAR_051915 commonName VAR_051915 VAR_051915 disease not phenotype-associated VAR_051916 commonName VAR_051916 VAR_051916 disease not phenotype-associated VAR_051917 commonName VAR_051917 VAR_051917 disease not phenotype-associated VAR_051918 commonName VAR_051918 VAR_051918 disease not phenotype-associated VAR_051919 commonName VAR_051919 VAR_051919 disease not phenotype-associated VAR_051920 commonName VAR_051920 VAR_051920 disease not phenotype-associated VAR_051921 commonName VAR_051921 VAR_051921 disease not phenotype-associated VAR_051922 commonName VAR_051922 VAR_051922 disease not phenotype-associated VAR_051923 commonName VAR_051923 VAR_051923 disease not phenotype-associated VAR_051924 commonName VAR_051924 VAR_051924 disease not phenotype-associated VAR_051925 commonName VAR_051925 VAR_051925 disease not phenotype-associated VAR_051926 commonName VAR_051926 VAR_051926 disease not phenotype-associated VAR_051927 commonName VAR_051927 VAR_051927 disease not phenotype-associated VAR_051928 commonName VAR_051928 VAR_051928 disease not phenotype-associated VAR_051929 commonName VAR_051929 VAR_051929 disease not phenotype-associated VAR_051930 commonName VAR_051930 VAR_051930 disease not phenotype-associated VAR_051931 commonName VAR_051931 VAR_051931 disease not phenotype-associated VAR_051932 commonName VAR_051932 VAR_051932 disease not phenotype-associated VAR_051933 commonName VAR_051933 VAR_051933 disease not phenotype-associated VAR_051934 commonName VAR_051934 VAR_051934 disease not phenotype-associated VAR_051935 commonName VAR_051935 VAR_051935 disease not phenotype-associated VAR_051936 commonName VAR_051936 VAR_051936 disease not phenotype-associated VAR_051937 commonName VAR_051937 VAR_051937 disease not phenotype-associated VAR_051938 commonName VAR_051938 VAR_051938 disease not phenotype-associated VAR_051939 commonName VAR_051939 VAR_051939 disease not phenotype-associated VAR_051940 commonName VAR_051940 VAR_051940 disease not phenotype-associated VAR_051941 commonName VAR_051941 VAR_051941 disease not phenotype-associated VAR_051942 commonName VAR_051942 VAR_051942 disease not phenotype-associated VAR_051943 commonName VAR_051943 VAR_051943 disease not phenotype-associated VAR_051944 commonName VAR_051944 VAR_051944 disease not phenotype-associated VAR_051945 commonName VAR_051945 VAR_051945 disease not phenotype-associated VAR_051946 commonName VAR_051946 VAR_051946 disease not phenotype-associated VAR_051949 commonName VAR_051949 VAR_051949 disease not phenotype-associated VAR_051950 commonName VAR_051950 VAR_051950 disease not phenotype-associated VAR_051951 commonName VAR_051951 VAR_051951 disease not phenotype-associated VAR_051952 commonName VAR_051952 VAR_051952 disease not phenotype-associated VAR_051953 commonName VAR_051953 VAR_051953 disease not phenotype-associated VAR_051954 commonName VAR_051954 VAR_051954 disease not phenotype-associated VAR_051955 commonName VAR_051955 VAR_051955 disease not phenotype-associated VAR_051956 commonName VAR_051956 VAR_051956 disease not phenotype-associated VAR_051957 commonName VAR_051957 VAR_051957 disease not phenotype-associated VAR_051958 commonName VAR_051958 VAR_051958 disease not phenotype-associated VAR_051959 commonName VAR_051959 VAR_051959 disease not phenotype-associated VAR_051960 commonName VAR_051960 VAR_051960 disease not phenotype-associated VAR_051961 commonName VAR_051961 VAR_051961 disease not phenotype-associated VAR_051962 commonName VAR_051962 VAR_051962 disease not phenotype-associated VAR_051963 commonName VAR_051963 VAR_051963 disease not phenotype-associated VAR_051964 commonName VAR_051964 VAR_051964 disease not phenotype-associated VAR_051965 commonName VAR_051965 VAR_051965 disease not phenotype-associated VAR_051966 commonName VAR_051966 VAR_051966 disease not phenotype-associated VAR_051968 commonName VAR_051968 VAR_051968 disease not phenotype-associated VAR_051969 commonName VAR_051969 VAR_051969 disease not phenotype-associated VAR_051970 commonName VAR_051970 VAR_051970 disease not phenotype-associated VAR_051974 commonName VAR_051974 VAR_051974 disease not phenotype-associated VAR_051975 commonName VAR_051975 VAR_051975 disease not phenotype-associated VAR_051976 commonName VAR_051976 VAR_051976 disease not phenotype-associated VAR_051977 commonName VAR_051977 VAR_051977 disease not phenotype-associated VAR_051978 commonName VAR_051978 VAR_051978 disease not phenotype-associated VAR_051980 commonName VAR_051980 VAR_051980 disease not phenotype-associated VAR_051981 commonName VAR_051981 VAR_051981 disease not phenotype-associated VAR_051983 commonName VAR_051983 VAR_051983 disease not phenotype-associated VAR_051984 commonName VAR_051984 VAR_051984 disease not phenotype-associated VAR_051985 commonName VAR_051985 VAR_051985 disease not phenotype-associated VAR_051986 commonName VAR_051986 VAR_051986 disease not phenotype-associated VAR_051987 commonName VAR_051987 VAR_051987 disease not phenotype-associated VAR_051988 commonName VAR_051988 VAR_051988 disease not phenotype-associated VAR_051991 commonName VAR_051991 VAR_051991 disease not phenotype-associated VAR_051992 commonName VAR_051992 VAR_051992 disease not phenotype-associated VAR_051993 commonName VAR_051993 VAR_051993 disease not phenotype-associated VAR_051994 commonName VAR_051994 VAR_051994 disease not phenotype-associated VAR_051995 commonName VAR_051995 VAR_051995 disease not phenotype-associated VAR_051997 commonName VAR_051997 VAR_051997 disease not phenotype-associated VAR_051998 commonName VAR_051998 VAR_051998 disease not phenotype-associated VAR_051999 commonName VAR_051999 VAR_051999 disease not phenotype-associated VAR_052000 commonName VAR_052000 VAR_052000 disease not phenotype-associated VAR_052001 commonName VAR_052001 VAR_052001 disease not phenotype-associated VAR_052002 commonName VAR_052002 VAR_052002 disease not phenotype-associated VAR_052003 commonName VAR_052003 VAR_052003 disease not phenotype-associated VAR_052004 commonName VAR_052004 VAR_052004 disease not phenotype-associated VAR_052006 commonName VAR_052006 VAR_052006 disease not phenotype-associated VAR_052007 commonName VAR_052007 VAR_052007 disease not phenotype-associated VAR_052008 commonName VAR_052008 VAR_052008 disease not phenotype-associated VAR_052009 commonName VAR_052009 VAR_052009 disease not phenotype-associated VAR_052010 commonName VAR_052010 VAR_052010 disease not phenotype-associated VAR_052011 commonName VAR_052011 VAR_052011 disease not phenotype-associated VAR_052012 commonName VAR_052012 VAR_052012 disease not phenotype-associated VAR_052013 commonName VAR_052013 VAR_052013 disease not phenotype-associated VAR_052014 commonName VAR_052014 VAR_052014 disease not phenotype-associated VAR_052015 commonName VAR_052015 VAR_052015 disease not phenotype-associated VAR_052016 commonName VAR_052016 VAR_052016 disease not phenotype-associated VAR_052017 commonName VAR_052017 VAR_052017 disease not phenotype-associated VAR_052018 commonName VAR_052018 VAR_052018 disease not phenotype-associated VAR_052019 commonName VAR_052019 VAR_052019 disease not phenotype-associated VAR_052020 commonName VAR_052020 VAR_052020 disease not phenotype-associated VAR_052021 commonName VAR_052021 VAR_052021 disease not phenotype-associated VAR_052022 commonName VAR_052022 VAR_052022 disease not phenotype-associated VAR_052023 commonName VAR_052023 VAR_052023 disease not phenotype-associated VAR_052024 commonName VAR_052024 VAR_052024 disease not phenotype-associated VAR_052025 commonName VAR_052025 VAR_052025 disease not phenotype-associated VAR_052026 commonName VAR_052026 VAR_052026 disease not phenotype-associated VAR_052027 commonName VAR_052027 VAR_052027 disease not phenotype-associated VAR_052028 commonName VAR_052028 VAR_052028 disease not phenotype-associated VAR_052029 commonName VAR_052029 VAR_052029 disease not phenotype-associated VAR_052030 commonName VAR_052030 VAR_052030 disease not phenotype-associated VAR_052032 commonName VAR_052032 VAR_052032 disease not phenotype-associated VAR_052033 commonName VAR_052033 VAR_052033 disease not phenotype-associated VAR_052034 commonName VAR_052034 VAR_052034 disease not phenotype-associated VAR_052036 commonName VAR_052036 VAR_052036 disease not phenotype-associated VAR_052037 commonName VAR_052037 VAR_052037 disease not phenotype-associated VAR_052038 commonName VAR_052038 VAR_052038 disease not phenotype-associated VAR_052039 commonName VAR_052039 VAR_052039 disease not phenotype-associated VAR_052040 commonName VAR_052040 VAR_052040 disease not phenotype-associated VAR_052041 commonName VAR_052041 VAR_052041 disease not phenotype-associated VAR_052042 commonName VAR_052042 VAR_052042 disease not phenotype-associated VAR_052045 commonName VAR_052045 VAR_052045 disease not phenotype-associated VAR_052046 commonName VAR_052046 VAR_052046 disease not phenotype-associated VAR_052047 commonName VAR_052047 VAR_052047 disease not phenotype-associated VAR_052048 commonName VAR_052048 VAR_052048 disease not phenotype-associated VAR_052049 commonName VAR_052049 VAR_052049 disease not phenotype-associated VAR_052050 commonName VAR_052050 VAR_052050 disease not phenotype-associated VAR_052051 commonName VAR_052051 VAR_052051 disease not phenotype-associated VAR_052054 commonName VAR_052054 VAR_052054 disease not phenotype-associated VAR_052055 commonName VAR_052055 VAR_052055 disease not phenotype-associated VAR_052057 commonName VAR_052057 VAR_052057 disease not phenotype-associated VAR_052058 commonName VAR_052058 VAR_052058 disease not phenotype-associated VAR_052060 commonName VAR_052060 VAR_052060 disease not phenotype-associated VAR_052061 commonName VAR_052061 VAR_052061 disease not phenotype-associated VAR_052062 commonName VAR_052062 VAR_052062 disease not phenotype-associated VAR_052063 commonName VAR_052063 VAR_052063 disease not phenotype-associated VAR_052064 commonName VAR_052064 VAR_052064 disease not phenotype-associated VAR_052065 commonName VAR_052065 VAR_052065 disease not phenotype-associated VAR_052066 commonName VAR_052066 VAR_052066 disease not phenotype-associated VAR_052067 commonName VAR_052067 VAR_052067 disease not phenotype-associated VAR_052068 commonName VAR_052068 VAR_052068 disease not phenotype-associated VAR_052069 commonName VAR_052069 VAR_052069 disease not phenotype-associated VAR_052070 commonName VAR_052070 VAR_052070 disease not phenotype-associated VAR_052071 commonName VAR_052071 VAR_052071 disease not phenotype-associated VAR_052072 commonName VAR_052072 VAR_052072 disease not phenotype-associated VAR_052073 commonName VAR_052073 VAR_052073 disease not phenotype-associated VAR_052074 commonName VAR_052074 VAR_052074 disease not phenotype-associated VAR_052075 commonName VAR_052075 VAR_052075 disease not phenotype-associated VAR_052076 commonName VAR_052076 VAR_052076 disease not phenotype-associated VAR_052077 commonName VAR_052077 VAR_052077 disease not phenotype-associated VAR_052081 commonName VAR_052081 VAR_052081 disease not phenotype-associated VAR_052082 commonName VAR_052082 VAR_052082 disease not phenotype-associated VAR_052085 commonName VAR_052085 VAR_052085 disease not phenotype-associated VAR_052086 commonName VAR_052086 VAR_052086 disease not phenotype-associated VAR_052087 commonName VAR_052087 VAR_052087 disease not phenotype-associated VAR_052091 commonName VAR_052091 VAR_052091 disease not phenotype-associated VAR_052092 commonName VAR_052092 VAR_052092 disease not phenotype-associated VAR_052093 commonName VAR_052093 VAR_052093 disease not phenotype-associated VAR_052094 commonName VAR_052094 VAR_052094 disease not phenotype-associated VAR_052095 commonName VAR_052095 VAR_052095 disease not phenotype-associated VAR_052096 commonName VAR_052096 VAR_052096 disease not phenotype-associated VAR_052098 commonName VAR_052098 VAR_052098 disease not phenotype-associated VAR_052099 commonName VAR_052099 VAR_052099 disease not phenotype-associated VAR_052100 commonName VAR_052100 VAR_052100 disease not phenotype-associated VAR_052103 commonName VAR_052103 VAR_052103 disease not phenotype-associated VAR_052104 commonName VAR_052104 VAR_052104 disease not phenotype-associated VAR_052105 commonName VAR_052105 VAR_052105 disease not phenotype-associated VAR_052106 commonName VAR_052106 VAR_052106 disease not phenotype-associated VAR_052107 commonName VAR_052107 VAR_052107 disease not phenotype-associated VAR_052108 commonName VAR_052108 VAR_052108 disease not phenotype-associated VAR_052109 commonName VAR_052109 VAR_052109 disease not phenotype-associated VAR_052111 commonName VAR_052111 VAR_052111 disease not phenotype-associated VAR_052112 commonName VAR_052112 VAR_052112 disease not phenotype-associated VAR_052113 commonName VAR_052113 VAR_052113 disease not phenotype-associated VAR_052114 commonName VAR_052114 VAR_052114 disease not phenotype-associated VAR_052116 commonName VAR_052116 VAR_052116 disease not phenotype-associated VAR_052117 commonName VAR_052117 VAR_052117 disease not phenotype-associated VAR_052118 commonName VAR_052118 VAR_052118 disease not phenotype-associated VAR_052119 commonName VAR_052119 VAR_052119 disease not phenotype-associated VAR_052120 commonName VAR_052120 VAR_052120 disease not phenotype-associated VAR_052121 commonName VAR_052121 VAR_052121 disease not phenotype-associated VAR_052122 commonName VAR_052122 VAR_052122 disease not phenotype-associated VAR_052123 commonName VAR_052123 VAR_052123 disease not phenotype-associated VAR_052124 commonName VAR_052124 VAR_052124 disease not phenotype-associated VAR_052125 commonName VAR_052125 VAR_052125 disease not phenotype-associated VAR_052134 commonName VAR_052134 VAR_052134 disease not phenotype-associated VAR_052135 commonName VAR_052135 VAR_052135 disease not phenotype-associated VAR_052136 commonName VAR_052136 VAR_052136 disease not phenotype-associated VAR_052137 commonName VAR_052137 VAR_052137 disease not phenotype-associated VAR_052142 commonName VAR_052142 VAR_052142 disease not phenotype-associated VAR_052143 commonName VAR_052143 VAR_052143 disease not phenotype-associated VAR_052144 commonName VAR_052144 VAR_052144 disease not phenotype-associated VAR_052145 commonName VAR_052145 VAR_052145 disease not phenotype-associated VAR_052147 commonName VAR_052147 VAR_052147 disease not phenotype-associated VAR_052148 commonName VAR_052148 VAR_052148 disease not phenotype-associated VAR_052149 commonName VAR_052149 VAR_052149 disease not phenotype-associated VAR_052150 commonName VAR_052150 VAR_052150 disease not phenotype-associated VAR_052151 commonName VAR_052151 VAR_052151 disease not phenotype-associated VAR_052152 commonName VAR_052152 VAR_052152 disease not phenotype-associated VAR_052153 commonName VAR_052153 VAR_052153 disease not phenotype-associated VAR_052154 commonName VAR_052154 VAR_052154 disease not phenotype-associated VAR_052155 commonName VAR_052155 VAR_052155 disease not phenotype-associated VAR_052156 commonName VAR_052156 VAR_052156 disease not phenotype-associated VAR_052157 commonName VAR_052157 VAR_052157 disease not phenotype-associated VAR_052158 commonName VAR_052158 VAR_052158 disease not phenotype-associated VAR_052159 commonName VAR_052159 VAR_052159 disease not phenotype-associated VAR_052160 commonName VAR_052160 VAR_052160 disease not phenotype-associated VAR_052161 commonName VAR_052161 VAR_052161 disease not phenotype-associated VAR_052162 commonName VAR_052162 VAR_052162 disease not phenotype-associated VAR_052163 commonName VAR_052163 VAR_052163 disease not phenotype-associated VAR_052164 commonName VAR_052164 VAR_052164 disease not phenotype-associated VAR_052166 commonName VAR_052166 VAR_052166 disease not phenotype-associated VAR_052168 commonName VAR_052168 VAR_052168 disease not phenotype-associated VAR_052169 commonName VAR_052169 VAR_052169 disease not phenotype-associated VAR_052170 commonName VAR_052170 VAR_052170 disease not phenotype-associated VAR_052171 commonName VAR_052171 VAR_052171 disease not phenotype-associated VAR_052172 commonName VAR_052172 VAR_052172 disease not phenotype-associated VAR_052173 commonName VAR_052173 VAR_052173 disease not phenotype-associated VAR_052175 commonName VAR_052175 VAR_052175 disease not phenotype-associated VAR_052176 commonName VAR_052176 VAR_052176 disease not phenotype-associated VAR_052177 commonName VAR_052177 VAR_052177 disease not phenotype-associated VAR_052178 commonName VAR_052178 VAR_052178 disease not phenotype-associated VAR_052179 commonName VAR_052179 VAR_052179 disease not phenotype-associated VAR_052180 commonName VAR_052180 VAR_052180 disease not phenotype-associated VAR_052181 commonName VAR_052181 VAR_052181 disease not phenotype-associated VAR_052182 commonName VAR_052182 VAR_052182 disease not phenotype-associated VAR_052183 commonName VAR_052183 VAR_052183 disease not phenotype-associated VAR_052184 commonName VAR_052184 VAR_052184 disease not phenotype-associated VAR_052185 commonName VAR_052185 VAR_052185 disease not phenotype-associated VAR_052186 commonName VAR_052186 VAR_052186 disease not phenotype-associated VAR_052187 commonName VAR_052187 VAR_052187 disease not phenotype-associated VAR_052188 commonName VAR_052188 VAR_052188 disease not phenotype-associated VAR_052189 commonName VAR_052189 VAR_052189 disease not phenotype-associated VAR_052190 commonName VAR_052190 VAR_052190 disease not phenotype-associated VAR_052191 commonName VAR_052191 VAR_052191 disease not phenotype-associated VAR_052192 commonName VAR_052192 VAR_052192 disease not phenotype-associated VAR_052193 commonName VAR_052193 VAR_052193 disease not phenotype-associated VAR_052194 commonName VAR_052194 VAR_052194 disease not phenotype-associated VAR_052195 commonName VAR_052195 VAR_052195 disease not phenotype-associated VAR_052196 commonName VAR_052196 VAR_052196 disease not phenotype-associated VAR_052197 commonName VAR_052197 VAR_052197 disease not phenotype-associated VAR_052198 commonName VAR_052198 VAR_052198 disease not phenotype-associated VAR_052199 commonName VAR_052199 VAR_052199 disease not phenotype-associated VAR_052200 commonName VAR_052200 VAR_052200 disease not phenotype-associated VAR_052201 commonName VAR_052201 VAR_052201 disease not phenotype-associated VAR_052203 commonName VAR_052203 VAR_052203 disease not phenotype-associated VAR_052204 commonName VAR_052204 VAR_052204 disease not phenotype-associated VAR_052205 commonName VAR_052205 VAR_052205 disease not phenotype-associated VAR_052206 commonName VAR_052206 VAR_052206 disease not phenotype-associated VAR_052207 commonName VAR_052207 VAR_052207 disease not phenotype-associated VAR_052208 commonName VAR_052208 VAR_052208 disease not phenotype-associated VAR_052209 commonName VAR_052209 VAR_052209 disease not phenotype-associated VAR_052210 commonName VAR_052210 VAR_052210 disease not phenotype-associated VAR_052211 commonName VAR_052211 VAR_052211 disease not phenotype-associated VAR_052212 commonName VAR_052212 VAR_052212 disease not phenotype-associated VAR_052213 commonName VAR_052213 VAR_052213 disease not phenotype-associated VAR_052214 commonName VAR_052214 VAR_052214 disease not phenotype-associated VAR_052215 commonName VAR_052215 VAR_052215 disease not phenotype-associated VAR_052217 commonName VAR_052217 VAR_052217 disease not phenotype-associated VAR_052218 commonName VAR_052218 VAR_052218 disease not phenotype-associated VAR_052219 commonName VAR_052219 VAR_052219 disease not phenotype-associated VAR_052220 commonName VAR_052220 VAR_052220 disease not phenotype-associated VAR_052221 commonName VAR_052221 VAR_052221 disease not phenotype-associated VAR_052223 commonName VAR_052223 VAR_052223 disease not phenotype-associated VAR_052224 commonName VAR_052224 VAR_052224 disease not phenotype-associated VAR_052225 commonName VAR_052225 VAR_052225 disease not phenotype-associated VAR_052226 commonName VAR_052226 VAR_052226 disease not phenotype-associated VAR_052227 commonName VAR_052227 VAR_052227 disease not phenotype-associated VAR_052228 commonName VAR_052228 VAR_052228 disease not phenotype-associated VAR_052229 commonName VAR_052229 VAR_052229 disease not phenotype-associated VAR_052230 commonName VAR_052230 VAR_052230 disease not phenotype-associated VAR_052231 commonName VAR_052231 VAR_052231 disease not phenotype-associated VAR_052232 commonName VAR_052232 VAR_052232 disease not phenotype-associated VAR_052233 commonName VAR_052233 VAR_052233 disease not phenotype-associated VAR_052234 commonName VAR_052234 VAR_052234 disease not phenotype-associated VAR_052235 commonName VAR_052235 VAR_052235 disease not phenotype-associated VAR_052236 commonName VAR_052236 VAR_052236 disease not phenotype-associated VAR_052237 commonName VAR_052237 VAR_052237 disease not phenotype-associated VAR_052239 commonName VAR_052239 VAR_052239 disease not phenotype-associated VAR_052240 commonName VAR_052240 VAR_052240 disease not phenotype-associated VAR_052241 commonName VAR_052241 VAR_052241 disease not phenotype-associated VAR_052242 commonName VAR_052242 VAR_052242 disease not phenotype-associated VAR_052243 commonName VAR_052243 VAR_052243 disease not phenotype-associated VAR_052245 commonName VAR_052245 VAR_052245 disease not phenotype-associated VAR_052246 commonName VAR_052246 VAR_052246 disease not phenotype-associated VAR_052247 commonName VAR_052247 VAR_052247 disease not phenotype-associated VAR_052248 commonName VAR_052248 VAR_052248 disease not phenotype-associated VAR_052249 commonName VAR_052249 VAR_052249 disease not phenotype-associated VAR_052250 commonName VAR_052250 VAR_052250 disease not phenotype-associated VAR_052251 commonName VAR_052251 VAR_052251 disease not phenotype-associated VAR_052252 commonName VAR_052252 VAR_052252 disease not phenotype-associated VAR_052253 commonName VAR_052253 VAR_052253 disease not phenotype-associated VAR_052254 commonName VAR_052254 VAR_052254 disease not phenotype-associated VAR_052255 commonName VAR_052255 VAR_052255 disease not phenotype-associated VAR_052256 commonName VAR_052256 VAR_052256 disease not phenotype-associated VAR_052257 commonName VAR_052257 VAR_052257 disease not phenotype-associated VAR_052258 commonName VAR_052258 VAR_052258 disease not phenotype-associated VAR_052259 commonName VAR_052259 VAR_052259 disease not phenotype-associated VAR_052260 commonName VAR_052260 VAR_052260 disease not phenotype-associated VAR_052261 commonName VAR_052261 VAR_052261 disease not phenotype-associated VAR_052262 commonName VAR_052262 VAR_052262 disease not phenotype-associated VAR_052263 commonName VAR_052263 VAR_052263 disease not phenotype-associated VAR_052264 commonName VAR_052264 VAR_052264 disease not phenotype-associated VAR_052265 commonName VAR_052265 VAR_052265 disease not phenotype-associated VAR_052266 commonName VAR_052266 VAR_052266 disease not phenotype-associated VAR_052267 commonName VAR_052267 VAR_052267 disease not phenotype-associated VAR_052268 commonName VAR_052268 VAR_052268 disease not phenotype-associated VAR_052269 commonName VAR_052269 VAR_052269 disease not phenotype-associated VAR_052270 commonName VAR_052270 VAR_052270 disease not phenotype-associated VAR_052271 commonName VAR_052271 VAR_052271 disease not phenotype-associated VAR_052272 commonName VAR_052272 VAR_052272 disease not phenotype-associated VAR_052274 commonName VAR_052274 VAR_052274 disease not phenotype-associated VAR_052275 commonName VAR_052275 VAR_052275 disease not phenotype-associated VAR_052276 commonName VAR_052276 VAR_052276 disease not phenotype-associated VAR_052277 commonName VAR_052277 VAR_052277 disease not phenotype-associated VAR_052278 commonName VAR_052278 VAR_052278 disease not phenotype-associated VAR_052280 commonName VAR_052280 VAR_052280 disease not phenotype-associated VAR_052281 commonName VAR_052281 VAR_052281 disease not phenotype-associated VAR_052282 commonName VAR_052282 VAR_052282 disease not phenotype-associated VAR_052283 commonName VAR_052283 VAR_052283 disease not phenotype-associated VAR_052284 commonName VAR_052284 VAR_052284 disease not phenotype-associated VAR_052285 commonName VAR_052285 VAR_052285 disease not phenotype-associated VAR_052286 commonName VAR_052286 VAR_052286 disease not phenotype-associated VAR_052288 commonName VAR_052288 VAR_052288 disease not phenotype-associated VAR_052289 commonName VAR_052289 VAR_052289 disease not phenotype-associated VAR_052290 commonName VAR_052290 VAR_052290 disease not phenotype-associated VAR_052291 commonName VAR_052291 VAR_052291 disease not phenotype-associated VAR_052292 commonName VAR_052292 VAR_052292 disease not phenotype-associated VAR_052293 commonName VAR_052293 VAR_052293 disease not phenotype-associated VAR_052294 commonName VAR_052294 VAR_052294 disease not phenotype-associated VAR_052295 commonName VAR_052295 VAR_052295 disease not phenotype-associated VAR_052296 commonName VAR_052296 VAR_052296 disease not phenotype-associated VAR_052297 commonName VAR_052297 VAR_052297 disease not phenotype-associated VAR_052298 commonName VAR_052298 VAR_052298 disease not phenotype-associated VAR_052299 commonName VAR_052299 VAR_052299 disease not phenotype-associated VAR_052300 commonName VAR_052300 VAR_052300 disease not phenotype-associated VAR_052301 commonName VAR_052301 VAR_052301 disease not phenotype-associated VAR_052302 commonName VAR_052302 VAR_052302 disease not phenotype-associated VAR_052303 commonName VAR_052303 VAR_052303 disease not phenotype-associated VAR_052304 commonName VAR_052304 VAR_052304 disease not phenotype-associated VAR_052305 commonName VAR_052305 VAR_052305 disease not phenotype-associated VAR_052306 commonName VAR_052306 VAR_052306 disease not phenotype-associated VAR_052307 commonName VAR_052307 VAR_052307 disease not phenotype-associated VAR_052308 commonName VAR_052308 VAR_052308 disease not phenotype-associated VAR_052309 commonName VAR_052309 VAR_052309 disease not phenotype-associated VAR_052310 commonName VAR_052310 VAR_052310 disease not phenotype-associated VAR_052311 commonName VAR_052311 VAR_052311 disease not phenotype-associated VAR_052312 commonName VAR_052312 VAR_052312 disease not phenotype-associated VAR_052317 commonName VAR_052317 VAR_052317 disease not phenotype-associated VAR_052318 commonName VAR_052318 VAR_052318 disease not phenotype-associated VAR_052319 commonName VAR_052319 VAR_052319 disease not phenotype-associated VAR_052320 commonName VAR_052320 VAR_052320 disease not phenotype-associated VAR_052321 commonName VAR_052321 VAR_052321 disease not phenotype-associated VAR_052322 commonName VAR_052322 VAR_052322 disease not phenotype-associated VAR_052323 commonName VAR_052323 VAR_052323 disease not phenotype-associated VAR_052324 commonName VAR_052324 VAR_052324 disease not phenotype-associated VAR_052325 commonName VAR_052325 VAR_052325 disease not phenotype-associated VAR_052326 commonName VAR_052326 VAR_052326 disease not phenotype-associated VAR_052327 commonName VAR_052327 VAR_052327 disease not phenotype-associated VAR_052328 commonName VAR_052328 VAR_052328 disease not phenotype-associated VAR_052329 commonName VAR_052329 VAR_052329 disease not phenotype-associated VAR_052330 commonName VAR_052330 VAR_052330 disease not phenotype-associated VAR_052331 commonName VAR_052331 VAR_052331 disease not phenotype-associated VAR_052332 commonName VAR_052332 VAR_052332 disease not phenotype-associated VAR_052333 commonName VAR_052333 VAR_052333 disease not phenotype-associated VAR_052334 commonName VAR_052334 VAR_052334 disease not phenotype-associated VAR_052335 commonName VAR_052335 VAR_052335 disease not phenotype-associated VAR_052336 commonName VAR_052336 VAR_052336 disease not phenotype-associated VAR_052337 commonName VAR_052337 VAR_052337 disease not phenotype-associated VAR_052338 commonName VAR_052338 VAR_052338 disease not phenotype-associated VAR_052339 commonName VAR_052339 VAR_052339 disease not phenotype-associated VAR_052340 commonName VAR_052340 VAR_052340 disease not phenotype-associated VAR_052341 commonName VAR_052341 VAR_052341 disease not phenotype-associated VAR_052342 commonName VAR_052342 VAR_052342 disease not phenotype-associated VAR_052343 commonName VAR_052343 VAR_052343 disease not phenotype-associated VAR_052344 commonName VAR_052344 VAR_052344 disease not phenotype-associated VAR_052345 commonName VAR_052345 VAR_052345 disease not phenotype-associated VAR_052346 commonName VAR_052346 VAR_052346 disease not phenotype-associated VAR_052347 commonName VAR_052347 VAR_052347 disease not phenotype-associated VAR_052348 commonName VAR_052348 VAR_052348 disease not phenotype-associated VAR_052349 commonName VAR_052349 VAR_052349 disease not phenotype-associated VAR_052350 commonName VAR_052350 VAR_052350 disease not phenotype-associated VAR_052351 commonName VAR_052351 VAR_052351 disease not phenotype-associated VAR_052352 commonName VAR_052352 VAR_052352 disease not phenotype-associated VAR_052353 commonName VAR_052353 VAR_052353 disease not phenotype-associated VAR_052354 commonName VAR_052354 VAR_052354 disease not phenotype-associated VAR_052355 commonName VAR_052355 VAR_052355 disease not phenotype-associated VAR_052356 commonName VAR_052356 VAR_052356 disease not phenotype-associated VAR_052358 commonName VAR_052358 VAR_052358 disease not phenotype-associated VAR_052359 commonName VAR_052359 VAR_052359 disease not phenotype-associated VAR_052360 commonName VAR_052360 VAR_052360 disease not phenotype-associated VAR_052361 commonName VAR_052361 VAR_052361 disease not phenotype-associated VAR_052362 commonName VAR_052362 VAR_052362 disease not phenotype-associated VAR_052363 commonName VAR_052363 VAR_052363 disease not phenotype-associated VAR_052364 commonName VAR_052364 VAR_052364 disease not phenotype-associated VAR_052365 commonName VAR_052365 VAR_052365 disease not phenotype-associated VAR_052366 commonName VAR_052366 VAR_052366 disease not phenotype-associated VAR_052367 commonName VAR_052367 VAR_052367 disease not phenotype-associated VAR_052368 commonName VAR_052368 VAR_052368 disease not phenotype-associated VAR_052369 commonName VAR_052369 VAR_052369 disease not phenotype-associated VAR_052370 commonName VAR_052370 VAR_052370 disease not phenotype-associated VAR_052371 commonName VAR_052371 VAR_052371 disease not phenotype-associated VAR_052372 commonName VAR_052372 VAR_052372 disease not phenotype-associated VAR_052373 commonName VAR_052373 VAR_052373 disease not phenotype-associated VAR_052374 commonName VAR_052374 VAR_052374 disease not phenotype-associated VAR_052375 commonName VAR_052375 VAR_052375 disease not phenotype-associated VAR_052376 commonName VAR_052376 VAR_052376 disease not phenotype-associated VAR_052377 commonName VAR_052377 VAR_052377 disease not phenotype-associated VAR_052378 commonName VAR_052378 VAR_052378 disease not phenotype-associated VAR_052379 commonName VAR_052379 VAR_052379 disease not phenotype-associated VAR_052380 commonName VAR_052380 VAR_052380 disease not phenotype-associated VAR_052381 commonName VAR_052381 VAR_052381 disease not phenotype-associated VAR_052382 commonName VAR_052382 VAR_052382 disease not phenotype-associated VAR_052383 commonName VAR_052383 VAR_052383 disease not phenotype-associated VAR_052384 commonName VAR_052384 VAR_052384 disease not phenotype-associated VAR_052385 commonName VAR_052385 VAR_052385 disease not phenotype-associated VAR_052386 commonName VAR_052386 VAR_052386 disease not phenotype-associated VAR_052387 commonName VAR_052387 VAR_052387 disease not phenotype-associated VAR_052388 commonName VAR_052388 VAR_052388 disease not phenotype-associated VAR_052389 commonName VAR_052389 VAR_052389 disease not phenotype-associated VAR_052391 commonName VAR_052391 VAR_052391 disease not phenotype-associated VAR_052393 commonName VAR_052393 VAR_052393 disease not phenotype-associated VAR_052394 commonName VAR_052394 VAR_052394 disease not phenotype-associated VAR_052395 commonName VAR_052395 VAR_052395 disease not phenotype-associated VAR_052396 commonName VAR_052396 VAR_052396 disease not phenotype-associated VAR_052397 commonName VAR_052397 VAR_052397 disease not phenotype-associated VAR_052398 commonName VAR_052398 VAR_052398 disease not phenotype-associated VAR_052399 commonName VAR_052399 VAR_052399 disease not phenotype-associated VAR_052401 commonName VAR_052401 VAR_052401 disease not phenotype-associated VAR_052402 commonName VAR_052402 VAR_052402 disease not phenotype-associated VAR_052403 commonName VAR_052403 VAR_052403 disease not phenotype-associated VAR_052405 commonName VAR_052405 VAR_052405 disease not phenotype-associated VAR_052406 commonName VAR_052406 VAR_052406 disease not phenotype-associated VAR_052408 commonName VAR_052408 VAR_052408 disease not phenotype-associated VAR_052409 commonName VAR_052409 VAR_052409 disease not phenotype-associated VAR_052410 commonName VAR_052410 VAR_052410 disease not phenotype-associated VAR_052411 commonName VAR_052411 VAR_052411 disease not phenotype-associated VAR_052412 commonName VAR_052412 VAR_052412 disease not phenotype-associated VAR_052413 commonName VAR_052413 VAR_052413 disease not phenotype-associated VAR_052414 commonName VAR_052414 VAR_052414 disease not phenotype-associated VAR_052415 commonName VAR_052415 VAR_052415 disease not phenotype-associated VAR_052416 commonName VAR_052416 VAR_052416 disease not phenotype-associated VAR_052417 commonName VAR_052417 VAR_052417 disease not phenotype-associated VAR_052418 commonName VAR_052418 VAR_052418 disease not phenotype-associated VAR_052419 commonName VAR_052419 VAR_052419 disease not phenotype-associated VAR_052420 commonName VAR_052420 VAR_052420 disease not phenotype-associated VAR_052421 commonName VAR_052421 VAR_052421 disease not phenotype-associated VAR_052422 commonName VAR_052422 VAR_052422 disease not phenotype-associated VAR_052423 commonName VAR_052423 VAR_052423 disease not phenotype-associated VAR_052424 commonName VAR_052424 VAR_052424 disease not phenotype-associated VAR_052425 commonName VAR_052425 VAR_052425 disease not phenotype-associated VAR_052426 commonName VAR_052426 VAR_052426 disease not phenotype-associated VAR_052428 commonName VAR_052428 VAR_052428 disease not phenotype-associated VAR_052429 commonName VAR_052429 VAR_052429 disease not phenotype-associated VAR_052430 commonName VAR_052430 VAR_052430 disease not phenotype-associated VAR_052431 commonName VAR_052431 VAR_052431 disease not phenotype-associated VAR_052432 commonName VAR_052432 VAR_052432 disease not phenotype-associated VAR_052433 commonName VAR_052433 VAR_052433 disease not phenotype-associated VAR_052434 commonName VAR_052434 VAR_052434 disease not phenotype-associated VAR_052435 commonName VAR_052435 VAR_052435 disease not phenotype-associated VAR_052436 commonName VAR_052436 VAR_052436 disease not phenotype-associated VAR_052437 commonName VAR_052437 VAR_052437 disease not phenotype-associated VAR_052438 commonName VAR_052438 VAR_052438 disease not phenotype-associated VAR_052439 commonName VAR_052439 VAR_052439 disease not phenotype-associated VAR_052440 commonName VAR_052440 VAR_052440 disease not phenotype-associated VAR_052441 commonName VAR_052441 VAR_052441 disease not phenotype-associated VAR_052442 commonName VAR_052442 VAR_052442 disease not phenotype-associated VAR_052443 commonName VAR_052443 VAR_052443 disease not phenotype-associated VAR_052444 commonName VAR_052444 VAR_052444 disease not phenotype-associated VAR_052445 commonName VAR_052445 VAR_052445 disease not phenotype-associated VAR_052446 commonName VAR_052446 VAR_052446 disease not phenotype-associated VAR_052447 commonName VAR_052447 VAR_052447 disease not phenotype-associated VAR_052448 commonName VAR_052448 VAR_052448 disease not phenotype-associated VAR_052449 commonName VAR_052449 VAR_052449 disease not phenotype-associated VAR_052450 commonName VAR_052450 VAR_052450 disease not phenotype-associated VAR_052451 commonName VAR_052451 VAR_052451 disease not phenotype-associated VAR_052452 commonName VAR_052452 VAR_052452 disease not phenotype-associated VAR_052453 commonName VAR_052453 VAR_052453 disease not phenotype-associated VAR_052454 commonName VAR_052454 VAR_052454 disease not phenotype-associated VAR_052455 commonName VAR_052455 VAR_052455 disease not phenotype-associated VAR_052456 commonName VAR_052456 VAR_052456 disease not phenotype-associated VAR_052457 commonName VAR_052457 VAR_052457 disease not phenotype-associated VAR_052458 commonName VAR_052458 VAR_052458 disease not phenotype-associated VAR_052459 commonName VAR_052459 VAR_052459 disease not phenotype-associated VAR_052460 commonName VAR_052460 VAR_052460 disease not phenotype-associated VAR_052461 commonName VAR_052461 VAR_052461 disease not phenotype-associated VAR_052462 commonName VAR_052462 VAR_052462 disease not phenotype-associated VAR_052463 commonName VAR_052463 VAR_052463 disease not phenotype-associated VAR_052464 commonName VAR_052464 VAR_052464 disease not phenotype-associated VAR_052465 commonName VAR_052465 VAR_052465 disease not phenotype-associated VAR_052466 commonName VAR_052466 VAR_052466 disease not phenotype-associated VAR_052467 commonName VAR_052467 VAR_052467 disease not phenotype-associated VAR_052468 commonName VAR_052468 VAR_052468 disease not phenotype-associated VAR_052469 commonName VAR_052469 VAR_052469 disease not phenotype-associated VAR_052470 commonName VAR_052470 VAR_052470 disease not phenotype-associated VAR_052471 commonName VAR_052471 VAR_052471 disease not phenotype-associated VAR_052472 commonName VAR_052472 VAR_052472 disease not phenotype-associated VAR_052473 commonName VAR_052473 VAR_052473 disease not phenotype-associated VAR_052474 commonName VAR_052474 VAR_052474 disease not phenotype-associated VAR_052475 commonName VAR_052475 VAR_052475 disease not phenotype-associated VAR_052476 commonName VAR_052476 VAR_052476 disease not phenotype-associated VAR_052477 commonName VAR_052477 VAR_052477 disease not phenotype-associated VAR_052478 commonName VAR_052478 VAR_052478 disease not phenotype-associated VAR_052479 commonName VAR_052479 VAR_052479 disease not phenotype-associated VAR_052480 commonName VAR_052480 VAR_052480 disease not phenotype-associated VAR_052481 commonName VAR_052481 VAR_052481 disease not phenotype-associated VAR_052482 commonName VAR_052482 VAR_052482 disease not phenotype-associated VAR_052483 commonName VAR_052483 VAR_052483 disease not phenotype-associated VAR_052484 commonName VAR_052484 VAR_052484 disease not phenotype-associated VAR_052485 commonName VAR_052485 VAR_052485 disease not phenotype-associated VAR_052486 commonName VAR_052486 VAR_052486 disease not phenotype-associated VAR_052487 commonName VAR_052487 VAR_052487 disease not phenotype-associated VAR_052488 commonName VAR_052488 VAR_052488 disease not phenotype-associated VAR_052489 commonName VAR_052489 VAR_052489 disease not phenotype-associated VAR_052490 commonName VAR_052490 VAR_052490 disease not phenotype-associated VAR_052491 commonName VAR_052491 VAR_052491 disease not phenotype-associated VAR_052492 commonName VAR_052492 VAR_052492 disease not phenotype-associated VAR_052493 commonName VAR_052493 VAR_052493 disease not phenotype-associated VAR_052494 commonName VAR_052494 VAR_052494 disease not phenotype-associated VAR_052495 commonName VAR_052495 VAR_052495 disease not phenotype-associated VAR_052496 commonName VAR_052496 VAR_052496 disease not phenotype-associated VAR_052497 commonName VAR_052497 VAR_052497 disease not phenotype-associated VAR_052498 commonName VAR_052498 VAR_052498 disease not phenotype-associated VAR_052499 commonName VAR_052499 VAR_052499 disease not phenotype-associated VAR_052500 commonName VAR_052500 VAR_052500 disease not phenotype-associated VAR_052502 commonName VAR_052502 VAR_052502 disease not phenotype-associated VAR_052503 commonName VAR_052503 VAR_052503 disease not phenotype-associated VAR_052504 commonName VAR_052504 VAR_052504 disease not phenotype-associated VAR_052505 commonName VAR_052505 VAR_052505 disease not phenotype-associated VAR_052506 commonName VAR_052506 VAR_052506 disease not phenotype-associated VAR_052507 commonName VAR_052507 VAR_052507 disease not phenotype-associated VAR_052508 commonName VAR_052508 VAR_052508 disease not phenotype-associated VAR_052509 commonName VAR_052509 VAR_052509 disease not phenotype-associated VAR_052510 commonName VAR_052510 VAR_052510 disease not phenotype-associated VAR_052511 commonName VAR_052511 VAR_052511 disease not phenotype-associated VAR_052512 commonName VAR_052512 VAR_052512 disease not phenotype-associated VAR_052513 commonName VAR_052513 VAR_052513 disease not phenotype-associated VAR_052514 commonName VAR_052514 VAR_052514 disease not phenotype-associated VAR_052518 commonName VAR_052518 VAR_052518 disease not phenotype-associated VAR_052519 commonName VAR_052519 VAR_052519 disease not phenotype-associated VAR_052520 commonName VAR_052520 VAR_052520 disease not phenotype-associated VAR_052521 commonName VAR_052521 VAR_052521 disease not phenotype-associated VAR_052522 commonName VAR_052522 VAR_052522 disease not phenotype-associated VAR_052523 commonName VAR_052523 VAR_052523 disease not phenotype-associated VAR_052524 commonName VAR_052524 VAR_052524 disease not phenotype-associated VAR_052525 commonName VAR_052525 VAR_052525 disease not phenotype-associated VAR_052526 commonName VAR_052526 VAR_052526 disease not phenotype-associated VAR_052528 commonName VAR_052528 VAR_052528 disease not phenotype-associated VAR_052529 commonName VAR_052529 VAR_052529 disease not phenotype-associated VAR_052530 commonName VAR_052530 VAR_052530 disease not phenotype-associated VAR_052531 commonName VAR_052531 VAR_052531 disease not phenotype-associated VAR_052532 commonName VAR_052532 VAR_052532 disease not phenotype-associated VAR_052533 commonName VAR_052533 VAR_052533 disease not phenotype-associated VAR_052534 commonName VAR_052534 VAR_052534 disease not phenotype-associated VAR_052535 commonName VAR_052535 VAR_052535 disease not phenotype-associated VAR_052536 commonName VAR_052536 VAR_052536 disease not phenotype-associated VAR_052537 commonName VAR_052537 VAR_052537 disease not phenotype-associated VAR_052538 commonName VAR_052538 VAR_052538 disease not phenotype-associated VAR_052539 commonName VAR_052539 VAR_052539 disease not phenotype-associated VAR_052540 commonName VAR_052540 VAR_052540 disease not phenotype-associated VAR_052541 commonName VAR_052541 VAR_052541 disease not phenotype-associated VAR_052543 commonName VAR_052543 VAR_052543 disease not phenotype-associated VAR_052544 commonName VAR_052544 VAR_052544 disease not phenotype-associated VAR_052545 commonName VAR_052545 VAR_052545 disease not phenotype-associated VAR_052546 commonName VAR_052546 VAR_052546 disease not phenotype-associated VAR_052547 commonName VAR_052547 VAR_052547 disease not phenotype-associated VAR_052549 commonName VAR_052549 VAR_052549 disease not phenotype-associated VAR_052550 commonName VAR_052550 VAR_052550 disease not phenotype-associated VAR_052551 commonName VAR_052551 VAR_052551 disease not phenotype-associated VAR_052552 commonName VAR_052552 VAR_052552 disease not phenotype-associated VAR_052553 commonName VAR_052553 VAR_052553 disease not phenotype-associated VAR_052554 commonName VAR_052554 VAR_052554 disease not phenotype-associated VAR_052555 commonName VAR_052555 VAR_052555 disease not phenotype-associated VAR_052556 commonName VAR_052556 VAR_052556 disease not phenotype-associated VAR_052557 commonName VAR_052557 VAR_052557 disease not phenotype-associated VAR_052558 commonName VAR_052558 VAR_052558 disease not phenotype-associated VAR_052559 commonName VAR_052559 VAR_052559 disease not phenotype-associated VAR_052560 commonName VAR_052560 VAR_052560 disease not phenotype-associated VAR_052561 commonName VAR_052561 VAR_052561 disease not phenotype-associated VAR_052562 commonName VAR_052562 VAR_052562 disease not phenotype-associated VAR_052563 commonName VAR_052563 VAR_052563 disease not phenotype-associated VAR_052566 commonName VAR_052566 VAR_052566 disease not phenotype-associated VAR_052567 commonName VAR_052567 VAR_052567 disease not phenotype-associated VAR_052568 commonName VAR_052568 VAR_052568 disease not phenotype-associated VAR_052569 commonName VAR_052569 VAR_052569 disease not phenotype-associated VAR_052570 commonName VAR_052570 VAR_052570 disease not phenotype-associated VAR_052571 commonName VAR_052571 VAR_052571 disease not phenotype-associated VAR_052572 commonName VAR_052572 VAR_052572 disease not phenotype-associated VAR_052573 commonName VAR_052573 VAR_052573 disease not phenotype-associated VAR_052574 commonName VAR_052574 VAR_052574 disease not phenotype-associated VAR_052575 commonName VAR_052575 VAR_052575 disease not phenotype-associated VAR_052576 commonName VAR_052576 VAR_052576 disease not phenotype-associated VAR_052577 commonName VAR_052577 VAR_052577 disease not phenotype-associated VAR_052578 commonName VAR_052578 VAR_052578 disease not phenotype-associated VAR_052579 commonName VAR_052579 VAR_052579 disease not phenotype-associated VAR_052580 commonName VAR_052580 VAR_052580 disease not phenotype-associated VAR_052581 commonName VAR_052581 VAR_052581 disease not phenotype-associated VAR_052582 commonName VAR_052582 VAR_052582 disease not phenotype-associated VAR_052583 commonName VAR_052583 VAR_052583 disease not phenotype-associated VAR_052584 commonName VAR_052584 VAR_052584 disease not phenotype-associated VAR_052585 commonName VAR_052585 VAR_052585 disease not phenotype-associated VAR_052586 commonName VAR_052586 VAR_052586 disease not phenotype-associated VAR_052587 commonName VAR_052587 VAR_052587 disease not phenotype-associated VAR_052588 commonName VAR_052588 VAR_052588 disease not phenotype-associated VAR_052591 commonName VAR_052591 VAR_052591 disease not phenotype-associated VAR_052592 commonName VAR_052592 VAR_052592 disease not phenotype-associated VAR_052593 commonName VAR_052593 VAR_052593 disease not phenotype-associated VAR_052594 commonName VAR_052594 VAR_052594 disease not phenotype-associated VAR_052595 commonName VAR_052595 VAR_052595 disease not phenotype-associated VAR_052596 commonName VAR_052596 VAR_052596 disease not phenotype-associated VAR_052597 commonName VAR_052597 VAR_052597 disease not phenotype-associated VAR_052598 commonName VAR_052598 VAR_052598 disease not phenotype-associated VAR_052599 commonName VAR_052599 VAR_052599 disease not phenotype-associated VAR_052600 commonName VAR_052600 VAR_052600 disease not phenotype-associated VAR_052601 commonName VAR_052601 VAR_052601 disease not phenotype-associated VAR_052602 commonName VAR_052602 VAR_052602 disease not phenotype-associated VAR_052603 commonName VAR_052603 VAR_052603 disease not phenotype-associated VAR_052604 commonName VAR_052604 VAR_052604 disease not phenotype-associated VAR_052605 commonName VAR_052605 VAR_052605 disease not phenotype-associated VAR_052607 commonName VAR_052607 VAR_052607 disease not phenotype-associated VAR_052608 commonName VAR_052608 VAR_052608 disease not phenotype-associated VAR_052609 commonName VAR_052609 VAR_052609 disease not phenotype-associated VAR_052610 commonName VAR_052610 VAR_052610 disease not phenotype-associated VAR_052611 commonName VAR_052611 VAR_052611 disease not phenotype-associated VAR_052612 commonName VAR_052612 VAR_052612 disease not phenotype-associated VAR_052613 commonName VAR_052613 VAR_052613 disease not phenotype-associated VAR_052614 commonName VAR_052614 VAR_052614 disease not phenotype-associated VAR_052615 commonName VAR_052615 VAR_052615 disease not phenotype-associated VAR_052616 commonName VAR_052616 VAR_052616 disease not phenotype-associated VAR_052617 commonName VAR_052617 VAR_052617 disease not phenotype-associated VAR_052618 commonName VAR_052618 VAR_052618 disease not phenotype-associated VAR_052619 commonName VAR_052619 VAR_052619 disease not phenotype-associated VAR_052620 commonName VAR_052620 VAR_052620 disease not phenotype-associated VAR_052621 commonName VAR_052621 VAR_052621 disease phenotype-associated VAR_052621 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710] VAR_052622 commonName VAR_052622 VAR_052622 disease not phenotype-associated VAR_052623 commonName VAR_052623 VAR_052623 disease not phenotype-associated VAR_052624 commonName VAR_052624 VAR_052624 disease not phenotype-associated VAR_052625 commonName VAR_052625 VAR_052625 disease not phenotype-associated VAR_052627 commonName VAR_052627 VAR_052627 disease not phenotype-associated VAR_052628 commonName VAR_052628 VAR_052628 disease not phenotype-associated VAR_052629 commonName VAR_052629 VAR_052629 disease not phenotype-associated VAR_052630 commonName VAR_052630 VAR_052630 disease not phenotype-associated VAR_052631 commonName VAR_052631 VAR_052631 disease not phenotype-associated VAR_052632 commonName VAR_052632 VAR_052632 disease not phenotype-associated VAR_052633 commonName VAR_052633 VAR_052633 disease not phenotype-associated VAR_052634 commonName VAR_052634 VAR_052634 disease not phenotype-associated VAR_052635 commonName VAR_052635 VAR_052635 disease not phenotype-associated VAR_052636 commonName VAR_052636 VAR_052636 disease not phenotype-associated VAR_052637 commonName VAR_052637 VAR_052637 disease not phenotype-associated VAR_052638 commonName VAR_052638 VAR_052638 disease not phenotype-associated VAR_052639 commonName VAR_052639 VAR_052639 disease not phenotype-associated VAR_052640 commonName VAR_052640 VAR_052640 disease not phenotype-associated VAR_052641 commonName VAR_052641 VAR_052641 disease not phenotype-associated VAR_052642 commonName VAR_052642 VAR_052642 disease not phenotype-associated VAR_052643 commonName VAR_052643 VAR_052643 disease not phenotype-associated VAR_052644 commonName VAR_052644 VAR_052644 disease not phenotype-associated VAR_052645 commonName VAR_052645 VAR_052645 disease not phenotype-associated VAR_052646 commonName VAR_052646 VAR_052646 disease not phenotype-associated VAR_052652 commonName VAR_052652 VAR_052652 disease not phenotype-associated VAR_052653 commonName VAR_052653 VAR_052653 disease not phenotype-associated VAR_052654 commonName VAR_052654 VAR_052654 disease not phenotype-associated VAR_052655 commonName VAR_052655 VAR_052655 disease not phenotype-associated VAR_052656 commonName VAR_052656 VAR_052656 disease not phenotype-associated VAR_052657 commonName VAR_052657 VAR_052657 disease not phenotype-associated VAR_052658 commonName VAR_052658 VAR_052658 disease not phenotype-associated VAR_052659 commonName VAR_052659 VAR_052659 disease not phenotype-associated VAR_052660 commonName VAR_052660 VAR_052660 disease not phenotype-associated VAR_052661 commonName VAR_052661 VAR_052661 disease not phenotype-associated VAR_052662 commonName VAR_052662 VAR_052662 disease not phenotype-associated VAR_052664 commonName VAR_052664 VAR_052664 disease not phenotype-associated VAR_052665 commonName VAR_052665 VAR_052665 disease not phenotype-associated VAR_052666 commonName VAR_052666 VAR_052666 disease not phenotype-associated VAR_052667 commonName VAR_052667 VAR_052667 disease not phenotype-associated VAR_052668 commonName VAR_052668 VAR_052668 disease not phenotype-associated VAR_052669 commonName VAR_052669 VAR_052669 disease not phenotype-associated VAR_052670 commonName VAR_052670 VAR_052670 disease not phenotype-associated VAR_052671 commonName VAR_052671 VAR_052671 disease not phenotype-associated VAR_052672 commonName VAR_052672 VAR_052672 disease not phenotype-associated VAR_052673 commonName VAR_052673 VAR_052673 disease not phenotype-associated VAR_052674 commonName VAR_052674 VAR_052674 disease not phenotype-associated VAR_052675 commonName VAR_052675 VAR_052675 disease not phenotype-associated VAR_052676 commonName VAR_052676 VAR_052676 disease not phenotype-associated VAR_052677 commonName VAR_052677 VAR_052677 disease not phenotype-associated VAR_052678 commonName VAR_052678 VAR_052678 disease not phenotype-associated VAR_052679 commonName VAR_052679 VAR_052679 disease not phenotype-associated VAR_052680 commonName VAR_052680 VAR_052680 disease not phenotype-associated VAR_052681 commonName VAR_052681 VAR_052681 disease not phenotype-associated VAR_052682 commonName VAR_052682 VAR_052682 disease not phenotype-associated VAR_052683 commonName VAR_052683 VAR_052683 disease not phenotype-associated VAR_052684 commonName VAR_052684 VAR_052684 disease not phenotype-associated VAR_052685 commonName VAR_052685 VAR_052685 disease not phenotype-associated VAR_052687 commonName VAR_052687 VAR_052687 disease not phenotype-associated VAR_052688 commonName VAR_052688 VAR_052688 disease not phenotype-associated VAR_052691 commonName VAR_052691 VAR_052691 disease not phenotype-associated VAR_052692 commonName VAR_052692 VAR_052692 disease not phenotype-associated VAR_052694 commonName VAR_052694 VAR_052694 disease not phenotype-associated VAR_052695 commonName VAR_052695 VAR_052695 disease not phenotype-associated VAR_052696 commonName VAR_052696 VAR_052696 disease not phenotype-associated VAR_052697 commonName VAR_052697 VAR_052697 disease not phenotype-associated VAR_052698 commonName VAR_052698 VAR_052698 disease not phenotype-associated VAR_052699 commonName VAR_052699 VAR_052699 disease not phenotype-associated VAR_052700 commonName VAR_052700 VAR_052700 disease not phenotype-associated VAR_052701 commonName VAR_052701 VAR_052701 disease not phenotype-associated VAR_052702 commonName VAR_052702 VAR_052702 disease not phenotype-associated VAR_052703 commonName VAR_052703 VAR_052703 disease not phenotype-associated VAR_052704 commonName VAR_052704 VAR_052704 disease not phenotype-associated VAR_052705 commonName VAR_052705 VAR_052705 disease not phenotype-associated VAR_052706 commonName VAR_052706 VAR_052706 disease not phenotype-associated VAR_052707 commonName VAR_052707 VAR_052707 disease not phenotype-associated VAR_052708 commonName VAR_052708 VAR_052708 disease not phenotype-associated VAR_052709 commonName VAR_052709 VAR_052709 disease not phenotype-associated VAR_052710 commonName VAR_052710 VAR_052710 disease not phenotype-associated VAR_052711 commonName VAR_052711 VAR_052711 disease not phenotype-associated VAR_052712 commonName VAR_052712 VAR_052712 disease not phenotype-associated VAR_052713 commonName VAR_052713 VAR_052713 disease not phenotype-associated VAR_052714 commonName VAR_052714 VAR_052714 disease not phenotype-associated VAR_052715 commonName VAR_052715 VAR_052715 disease not phenotype-associated VAR_052716 commonName VAR_052716 VAR_052716 disease not phenotype-associated VAR_052717 commonName VAR_052717 VAR_052717 disease not phenotype-associated VAR_052718 commonName VAR_052718 VAR_052718 disease not phenotype-associated VAR_052719 commonName VAR_052719 VAR_052719 disease not phenotype-associated VAR_052720 commonName VAR_052720 VAR_052720 disease not phenotype-associated VAR_052721 commonName VAR_052721 VAR_052721 disease not phenotype-associated VAR_052722 commonName VAR_052722 VAR_052722 disease not phenotype-associated VAR_052724 commonName VAR_052724 VAR_052724 disease not phenotype-associated VAR_052725 commonName VAR_052725 VAR_052725 disease not phenotype-associated VAR_052726 commonName VAR_052726 VAR_052726 disease not phenotype-associated VAR_052727 commonName VAR_052727 VAR_052727 disease not phenotype-associated VAR_052729 commonName VAR_052729 VAR_052729 disease not phenotype-associated VAR_052730 commonName VAR_052730 VAR_052730 disease not phenotype-associated VAR_052731 commonName VAR_052731 VAR_052731 disease not phenotype-associated VAR_052732 commonName VAR_052732 VAR_052732 disease not phenotype-associated VAR_052733 commonName VAR_052733 VAR_052733 disease not phenotype-associated VAR_052734 commonName VAR_052734 VAR_052734 disease not phenotype-associated VAR_052735 commonName VAR_052735 VAR_052735 disease not phenotype-associated VAR_052736 commonName VAR_052736 VAR_052736 disease not phenotype-associated VAR_052737 commonName VAR_052737 VAR_052737 disease not phenotype-associated VAR_052738 commonName VAR_052738 VAR_052738 disease not phenotype-associated VAR_052739 commonName VAR_052739 VAR_052739 disease not phenotype-associated VAR_052740 commonName VAR_052740 VAR_052740 disease not phenotype-associated VAR_052741 commonName VAR_052741 VAR_052741 disease not phenotype-associated VAR_052742 commonName VAR_052742 VAR_052742 disease not phenotype-associated VAR_052743 commonName VAR_052743 VAR_052743 disease not phenotype-associated VAR_052744 commonName VAR_052744 VAR_052744 disease not phenotype-associated VAR_052746 commonName VAR_052746 VAR_052746 disease not phenotype-associated VAR_052747 commonName VAR_052747 VAR_052747 disease not phenotype-associated VAR_052749 commonName VAR_052749 VAR_052749 disease not phenotype-associated VAR_052750 commonName VAR_052750 VAR_052750 disease not phenotype-associated VAR_052751 commonName VAR_052751 VAR_052751 disease not phenotype-associated VAR_052752 commonName VAR_052752 VAR_052752 disease not phenotype-associated VAR_052753 commonName VAR_052753 VAR_052753 disease not phenotype-associated VAR_052754 commonName VAR_052754 VAR_052754 disease not phenotype-associated VAR_052755 commonName VAR_052755 VAR_052755 disease not phenotype-associated VAR_052756 commonName VAR_052756 VAR_052756 disease not phenotype-associated VAR_052757 commonName VAR_052757 VAR_052757 disease not phenotype-associated VAR_052758 commonName VAR_052758 VAR_052758 disease not phenotype-associated VAR_052759 commonName VAR_052759 VAR_052759 disease not phenotype-associated VAR_052760 commonName VAR_052760 VAR_052760 disease not phenotype-associated VAR_052761 commonName VAR_052761 VAR_052761 disease not phenotype-associated VAR_052762 commonName VAR_052762 VAR_052762 disease not phenotype-associated VAR_052763 commonName VAR_052763 VAR_052763 disease not phenotype-associated VAR_052764 commonName VAR_052764 VAR_052764 disease not phenotype-associated VAR_052765 commonName VAR_052765 VAR_052765 disease not phenotype-associated VAR_052766 commonName VAR_052766 VAR_052766 disease not phenotype-associated VAR_052768 commonName VAR_052768 VAR_052768 disease not phenotype-associated VAR_052769 commonName VAR_052769 VAR_052769 disease not phenotype-associated VAR_052770 commonName VAR_052770 VAR_052770 disease not phenotype-associated VAR_052771 commonName VAR_052771 VAR_052771 disease not phenotype-associated VAR_052772 commonName VAR_052772 VAR_052772 disease not phenotype-associated VAR_052773 commonName VAR_052773 VAR_052773 disease not phenotype-associated VAR_052774 commonName VAR_052774 VAR_052774 disease not phenotype-associated VAR_052779 commonName VAR_052779 VAR_052779 disease not phenotype-associated VAR_052780 commonName VAR_052780 VAR_052780 disease not phenotype-associated VAR_052781 commonName VAR_052781 VAR_052781 disease not phenotype-associated VAR_052782 commonName VAR_052782 VAR_052782 disease not phenotype-associated VAR_052783 commonName VAR_052783 VAR_052783 disease not phenotype-associated VAR_052784 commonName VAR_052784 VAR_052784 disease not phenotype-associated VAR_052785 commonName VAR_052785 VAR_052785 disease not phenotype-associated VAR_052786 commonName VAR_052786 VAR_052786 disease not phenotype-associated VAR_052787 commonName VAR_052787 VAR_052787 disease not phenotype-associated VAR_052788 commonName VAR_052788 VAR_052788 disease not phenotype-associated VAR_052789 commonName VAR_052789 VAR_052789 disease not phenotype-associated VAR_052790 commonName VAR_052790 VAR_052790 disease not phenotype-associated VAR_052794 commonName VAR_052794 VAR_052794 disease not phenotype-associated VAR_052795 commonName VAR_052795 VAR_052795 disease not phenotype-associated VAR_052796 commonName VAR_052796 VAR_052796 disease not phenotype-associated VAR_052797 commonName VAR_052797 VAR_052797 disease not phenotype-associated VAR_052798 commonName VAR_052798 VAR_052798 disease not phenotype-associated VAR_052799 commonName VAR_052799 VAR_052799 disease not phenotype-associated VAR_052800 commonName VAR_052800 VAR_052800 disease not phenotype-associated VAR_052801 commonName VAR_052801 VAR_052801 disease not phenotype-associated VAR_052802 commonName VAR_052802 VAR_052802 disease not phenotype-associated VAR_052803 commonName VAR_052803 VAR_052803 disease not phenotype-associated VAR_052804 commonName VAR_052804 VAR_052804 disease not phenotype-associated VAR_052805 commonName VAR_052805 VAR_052805 disease not phenotype-associated VAR_052807 commonName VAR_052807 VAR_052807 disease not phenotype-associated VAR_052808 commonName VAR_052808 VAR_052808 disease not phenotype-associated VAR_052809 commonName VAR_052809 VAR_052809 disease not phenotype-associated VAR_052810 commonName VAR_052810 VAR_052810 disease not phenotype-associated VAR_052811 commonName VAR_052811 VAR_052811 disease not phenotype-associated VAR_052812 commonName VAR_052812 VAR_052812 disease not phenotype-associated VAR_052813 commonName VAR_052813 VAR_052813 disease not phenotype-associated VAR_052814 commonName VAR_052814 VAR_052814 disease not phenotype-associated VAR_052815 commonName VAR_052815 VAR_052815 disease not phenotype-associated VAR_052816 commonName VAR_052816 VAR_052816 disease not phenotype-associated VAR_052817 commonName VAR_052817 VAR_052817 disease not phenotype-associated VAR_052818 commonName VAR_052818 VAR_052818 disease not phenotype-associated VAR_052819 commonName VAR_052819 VAR_052819 disease not phenotype-associated VAR_052820 commonName VAR_052820 VAR_052820 disease not phenotype-associated VAR_052821 commonName VAR_052821 VAR_052821 disease not phenotype-associated VAR_052823 commonName VAR_052823 VAR_052823 disease not phenotype-associated VAR_052824 commonName VAR_052824 VAR_052824 disease not phenotype-associated VAR_052825 commonName VAR_052825 VAR_052825 disease not phenotype-associated VAR_052826 commonName VAR_052826 VAR_052826 disease not phenotype-associated VAR_052827 commonName VAR_052827 VAR_052827 disease not phenotype-associated VAR_052828 commonName VAR_052828 VAR_052828 disease not phenotype-associated VAR_052829 commonName VAR_052829 VAR_052829 disease not phenotype-associated VAR_052830 commonName VAR_052830 VAR_052830 disease not phenotype-associated VAR_052831 commonName VAR_052831 VAR_052831 disease not phenotype-associated VAR_052832 commonName VAR_052832 VAR_052832 disease not phenotype-associated VAR_052834 commonName VAR_052834 VAR_052834 disease not phenotype-associated VAR_052835 commonName VAR_052835 VAR_052835 disease not phenotype-associated VAR_052836 commonName VAR_052836 VAR_052836 disease not phenotype-associated VAR_052837 commonName VAR_052837 VAR_052837 disease not phenotype-associated VAR_052838 commonName VAR_052838 VAR_052838 disease not phenotype-associated VAR_052839 commonName VAR_052839 VAR_052839 disease not phenotype-associated VAR_052840 commonName VAR_052840 VAR_052840 disease not phenotype-associated VAR_052841 commonName VAR_052841 VAR_052841 disease not phenotype-associated VAR_052842 commonName VAR_052842 VAR_052842 disease not phenotype-associated VAR_052843 commonName VAR_052843 VAR_052843 disease not phenotype-associated VAR_052844 commonName VAR_052844 VAR_052844 disease not phenotype-associated VAR_052845 commonName VAR_052845 VAR_052845 disease not phenotype-associated VAR_052846 commonName VAR_052846 VAR_052846 disease not phenotype-associated VAR_052847 commonName VAR_052847 VAR_052847 disease not phenotype-associated VAR_052848 commonName VAR_052848 VAR_052848 disease not phenotype-associated VAR_052849 commonName VAR_052849 VAR_052849 disease not phenotype-associated VAR_052850 commonName VAR_052850 VAR_052850 disease not phenotype-associated VAR_052851 commonName VAR_052851 VAR_052851 disease not phenotype-associated VAR_052852 commonName VAR_052852 VAR_052852 disease not phenotype-associated VAR_052853 commonName VAR_052853 VAR_052853 disease not phenotype-associated VAR_052854 commonName VAR_052854 VAR_052854 disease not phenotype-associated VAR_052855 commonName VAR_052855 VAR_052855 disease not phenotype-associated VAR_052856 commonName VAR_052856 VAR_052856 disease not phenotype-associated VAR_052857 commonName VAR_052857 VAR_052857 disease not phenotype-associated VAR_052859 commonName VAR_052859 VAR_052859 disease not phenotype-associated VAR_052861 commonName VAR_052861 VAR_052861 disease not phenotype-associated VAR_052862 commonName VAR_052862 VAR_052862 disease not phenotype-associated VAR_052863 commonName VAR_052863 VAR_052863 disease not phenotype-associated VAR_052864 commonName VAR_052864 VAR_052864 disease not phenotype-associated VAR_052865 commonName VAR_052865 VAR_052865 disease not phenotype-associated VAR_052866 commonName VAR_052866 VAR_052866 disease not phenotype-associated VAR_052867 commonName VAR_052867 VAR_052867 disease not phenotype-associated VAR_052869 commonName VAR_052869 VAR_052869 disease not phenotype-associated VAR_052870 commonName VAR_052870 VAR_052870 disease not phenotype-associated VAR_052871 commonName VAR_052871 VAR_052871 disease not phenotype-associated VAR_052872 commonName VAR_052872 VAR_052872 disease not phenotype-associated VAR_052873 commonName VAR_052873 VAR_052873 disease not phenotype-associated VAR_052874 commonName VAR_052874 VAR_052874 disease not phenotype-associated VAR_052875 commonName VAR_052875 VAR_052875 disease not phenotype-associated VAR_052876 commonName VAR_052876 VAR_052876 disease not phenotype-associated VAR_052877 commonName VAR_052877 VAR_052877 disease not phenotype-associated VAR_052878 commonName VAR_052878 VAR_052878 disease not phenotype-associated VAR_052879 commonName VAR_052879 VAR_052879 disease not phenotype-associated VAR_052880 commonName VAR_052880 VAR_052880 disease not phenotype-associated VAR_052881 commonName VAR_052881 VAR_052881 disease not phenotype-associated VAR_052882 commonName VAR_052882 VAR_052882 disease not phenotype-associated VAR_052883 commonName VAR_052883 VAR_052883 disease not phenotype-associated VAR_052884 commonName VAR_052884 VAR_052884 disease not phenotype-associated VAR_052885 commonName VAR_052885 VAR_052885 disease not phenotype-associated VAR_052886 commonName VAR_052886 VAR_052886 disease not phenotype-associated VAR_052887 commonName VAR_052887 VAR_052887 disease not phenotype-associated VAR_052888 commonName VAR_052888 VAR_052888 disease not phenotype-associated VAR_052889 commonName VAR_052889 VAR_052889 disease not phenotype-associated VAR_052890 commonName VAR_052890 VAR_052890 disease not phenotype-associated VAR_052891 commonName VAR_052891 VAR_052891 disease not phenotype-associated VAR_052892 commonName VAR_052892 VAR_052892 disease not phenotype-associated VAR_052894 commonName VAR_052894 VAR_052894 disease not phenotype-associated VAR_052895 commonName VAR_052895 VAR_052895 disease not phenotype-associated VAR_052896 commonName VAR_052896 VAR_052896 disease not phenotype-associated VAR_052897 commonName VAR_052897 VAR_052897 disease not phenotype-associated VAR_052898 commonName VAR_052898 VAR_052898 disease not phenotype-associated VAR_052899 commonName VAR_052899 VAR_052899 disease not phenotype-associated VAR_052900 commonName VAR_052900 VAR_052900 disease not phenotype-associated VAR_052901 commonName VAR_052901 VAR_052901 disease not phenotype-associated VAR_052902 commonName VAR_052902 VAR_052902 disease not phenotype-associated VAR_052903 commonName VAR_052903 VAR_052903 disease not phenotype-associated VAR_052904 commonName VAR_052904 VAR_052904 disease not phenotype-associated VAR_052905 commonName VAR_052905 VAR_052905 disease not phenotype-associated VAR_052906 commonName VAR_052906 VAR_052906 disease not phenotype-associated VAR_052907 commonName VAR_052907 VAR_052907 disease not phenotype-associated VAR_052908 commonName VAR_052908 VAR_052908 disease not phenotype-associated VAR_052909 commonName VAR_052909 VAR_052909 disease not phenotype-associated VAR_052910 commonName VAR_052910 VAR_052910 disease not phenotype-associated VAR_052913 commonName VAR_052913 VAR_052913 disease not phenotype-associated VAR_052914 commonName VAR_052914 VAR_052914 disease not phenotype-associated VAR_052915 commonName VAR_052915 VAR_052915 disease not phenotype-associated VAR_052916 commonName VAR_052916 VAR_052916 disease not phenotype-associated VAR_052917 commonName VAR_052917 VAR_052917 disease not phenotype-associated VAR_052918 commonName VAR_052918 VAR_052918 disease not phenotype-associated VAR_052919 commonName VAR_052919 VAR_052919 disease not phenotype-associated VAR_052920 commonName VAR_052920 VAR_052920 disease not phenotype-associated VAR_052921 commonName VAR_052921 VAR_052921 disease not phenotype-associated VAR_052922 commonName VAR_052922 VAR_052922 disease not phenotype-associated VAR_052923 commonName VAR_052923 VAR_052923 disease not phenotype-associated VAR_052924 commonName VAR_052924 VAR_052924 disease not phenotype-associated VAR_052925 commonName VAR_052925 VAR_052925 disease not phenotype-associated VAR_052926 commonName VAR_052926 VAR_052926 disease not phenotype-associated VAR_052929 commonName VAR_052929 VAR_052929 disease not phenotype-associated VAR_052930 commonName VAR_052930 VAR_052930 disease not phenotype-associated VAR_052931 commonName VAR_052931 VAR_052931 disease not phenotype-associated VAR_052932 commonName VAR_052932 VAR_052932 disease not phenotype-associated VAR_052933 commonName VAR_052933 VAR_052933 disease not phenotype-associated VAR_052934 commonName VAR_052934 VAR_052934 disease not phenotype-associated VAR_052935 commonName VAR_052935 VAR_052935 disease not phenotype-associated VAR_052936 commonName VAR_052936 VAR_052936 disease not phenotype-associated VAR_052937 commonName VAR_052937 VAR_052937 disease not phenotype-associated VAR_052938 commonName VAR_052938 VAR_052938 disease not phenotype-associated VAR_052939 commonName VAR_052939 VAR_052939 disease not phenotype-associated VAR_052940 commonName VAR_052940 VAR_052940 disease not phenotype-associated VAR_052941 commonName VAR_052941 VAR_052941 disease not phenotype-associated VAR_052942 commonName VAR_052942 VAR_052942 disease not phenotype-associated VAR_052943 commonName VAR_052943 VAR_052943 disease not phenotype-associated VAR_052944 commonName VAR_052944 VAR_052944 disease not phenotype-associated VAR_052945 commonName VAR_052945 VAR_052945 disease not phenotype-associated VAR_052946 commonName VAR_052946 VAR_052946 disease not phenotype-associated VAR_052947 commonName VAR_052947 VAR_052947 disease not phenotype-associated VAR_052948 commonName VAR_052948 VAR_052948 disease not phenotype-associated VAR_052949 commonName VAR_052949 VAR_052949 disease not phenotype-associated VAR_052950 commonName VAR_052950 VAR_052950 disease not phenotype-associated VAR_052951 commonName VAR_052951 VAR_052951 disease not phenotype-associated VAR_052952 commonName VAR_052952 VAR_052952 disease not phenotype-associated VAR_052953 commonName VAR_052953 VAR_052953 disease not phenotype-associated VAR_052954 commonName VAR_052954 VAR_052954 disease not phenotype-associated VAR_052955 commonName VAR_052955 VAR_052955 disease not phenotype-associated VAR_052956 commonName VAR_052956 VAR_052956 disease not phenotype-associated VAR_052957 commonName VAR_052957 VAR_052957 disease not phenotype-associated VAR_052958 commonName VAR_052958 VAR_052958 disease not phenotype-associated VAR_052959 commonName VAR_052959 VAR_052959 disease not phenotype-associated VAR_052961 commonName VAR_052961 VAR_052961 disease not phenotype-associated VAR_052962 commonName VAR_052962 VAR_052962 disease not phenotype-associated VAR_052964 commonName VAR_052964 VAR_052964 disease not phenotype-associated VAR_052965 commonName VAR_052965 VAR_052965 disease not phenotype-associated VAR_052966 commonName VAR_052966 VAR_052966 disease not phenotype-associated VAR_052967 commonName VAR_052967 VAR_052967 disease not phenotype-associated VAR_052968 commonName VAR_052968 VAR_052968 disease not phenotype-associated VAR_052969 commonName VAR_052969 VAR_052969 disease not phenotype-associated VAR_052970 commonName VAR_052970 VAR_052970 disease not phenotype-associated VAR_052972 commonName VAR_052972 VAR_052972 disease not phenotype-associated VAR_052973 commonName VAR_052973 VAR_052973 disease not phenotype-associated VAR_052974 commonName VAR_052974 VAR_052974 disease not phenotype-associated VAR_052975 commonName VAR_052975 VAR_052975 disease not phenotype-associated VAR_052978 commonName VAR_052978 VAR_052978 disease not phenotype-associated VAR_052979 commonName VAR_052979 VAR_052979 disease not phenotype-associated VAR_052980 commonName VAR_052980 VAR_052980 disease not phenotype-associated VAR_052981 commonName VAR_052981 VAR_052981 disease not phenotype-associated VAR_052982 commonName VAR_052982 VAR_052982 disease not phenotype-associated VAR_052983 commonName VAR_052983 VAR_052983 disease not phenotype-associated VAR_052984 commonName VAR_052984 VAR_052984 disease not phenotype-associated VAR_052985 commonName VAR_052985 VAR_052985 disease not phenotype-associated VAR_052986 commonName VAR_052986 VAR_052986 disease not phenotype-associated VAR_052987 commonName VAR_052987 VAR_052987 disease not phenotype-associated VAR_052988 commonName VAR_052988 VAR_052988 disease not phenotype-associated VAR_052989 commonName VAR_052989 VAR_052989 disease not phenotype-associated VAR_052990 commonName VAR_052990 VAR_052990 disease not phenotype-associated VAR_052992 commonName VAR_052992 VAR_052992 disease not phenotype-associated VAR_052994 commonName VAR_052994 VAR_052994 disease not phenotype-associated VAR_052995 commonName VAR_052995 VAR_052995 disease not phenotype-associated VAR_052996 commonName VAR_052996 VAR_052996 disease not phenotype-associated VAR_052997 commonName VAR_052997 VAR_052997 disease not phenotype-associated VAR_052998 commonName VAR_052998 VAR_052998 disease not phenotype-associated VAR_052999 commonName VAR_052999 VAR_052999 disease not phenotype-associated VAR_053000 commonName VAR_053000 VAR_053000 disease not phenotype-associated VAR_053001 commonName VAR_053001 VAR_053001 disease not phenotype-associated VAR_053003 commonName VAR_053003 VAR_053003 disease not phenotype-associated VAR_053004 commonName VAR_053004 VAR_053004 disease not phenotype-associated VAR_053005 commonName VAR_053005 VAR_053005 disease not phenotype-associated VAR_053006 commonName VAR_053006 VAR_053006 disease not phenotype-associated VAR_053007 commonName VAR_053007 VAR_053007 disease not phenotype-associated VAR_053008 commonName VAR_053008 VAR_053008 disease not phenotype-associated VAR_053009 commonName VAR_053009 VAR_053009 disease not phenotype-associated VAR_053010 commonName VAR_053010 VAR_053010 disease not phenotype-associated VAR_053012 commonName VAR_053012 VAR_053012 disease not phenotype-associated VAR_053013 commonName VAR_053013 VAR_053013 disease not phenotype-associated VAR_053014 commonName VAR_053014 VAR_053014 disease not phenotype-associated VAR_053015 commonName VAR_053015 VAR_053015 disease not phenotype-associated VAR_053016 commonName VAR_053016 VAR_053016 disease not phenotype-associated VAR_053017 commonName VAR_053017 VAR_053017 disease not phenotype-associated VAR_053018 commonName VAR_053018 VAR_053018 disease not phenotype-associated VAR_053019 commonName VAR_053019 VAR_053019 disease not phenotype-associated VAR_053020 commonName VAR_053020 VAR_053020 disease not phenotype-associated VAR_053021 commonName VAR_053021 VAR_053021 disease not phenotype-associated VAR_053022 commonName VAR_053022 VAR_053022 disease not phenotype-associated VAR_053023 commonName VAR_053023 VAR_053023 disease not phenotype-associated VAR_053024 commonName VAR_053024 VAR_053024 disease not phenotype-associated VAR_053025 commonName VAR_053025 VAR_053025 disease not phenotype-associated VAR_053026 commonName VAR_053026 VAR_053026 disease not phenotype-associated VAR_053027 commonName VAR_053027 VAR_053027 disease not phenotype-associated VAR_053028 comment Melanoma VAR_053028 commonName VAR_053028 VAR_053029 commonName VAR_053029 VAR_053029 disease not phenotype-associated VAR_053030 commonName VAR_053030 VAR_053030 disease not phenotype-associated VAR_053031 commonName VAR_053031 VAR_053031 disease not phenotype-associated VAR_053032 commonName VAR_053032 VAR_053032 disease not phenotype-associated VAR_053033 commonName VAR_053033 VAR_053033 disease not phenotype-associated VAR_053034 commonName VAR_053034 VAR_053034 disease not phenotype-associated VAR_053035 commonName VAR_053035 VAR_053035 disease not phenotype-associated VAR_053036 commonName VAR_053036 VAR_053036 disease not phenotype-associated VAR_053037 commonName VAR_053037 VAR_053037 disease not phenotype-associated VAR_053038 commonName VAR_053038 VAR_053038 disease not phenotype-associated VAR_053039 commonName VAR_053039 VAR_053039 disease not phenotype-associated VAR_053040 commonName VAR_053040 VAR_053040 disease not phenotype-associated VAR_053041 commonName VAR_053041 VAR_053041 disease not phenotype-associated VAR_053043 commonName VAR_053043 VAR_053043 disease not phenotype-associated VAR_053044 commonName VAR_053044 VAR_053044 disease not phenotype-associated VAR_053045 commonName VAR_053045 VAR_053045 disease not phenotype-associated VAR_053046 commonName VAR_053046 VAR_053046 disease not phenotype-associated VAR_053047 commonName VAR_053047 VAR_053047 disease not phenotype-associated VAR_053048 commonName VAR_053048 VAR_053048 disease not phenotype-associated VAR_053049 commonName VAR_053049 VAR_053049 disease not phenotype-associated VAR_053051 commonName VAR_053051 VAR_053051 disease not phenotype-associated VAR_053052 commonName VAR_053052 VAR_053052 disease not phenotype-associated VAR_053053 commonName VAR_053053 VAR_053053 disease not phenotype-associated VAR_053054 commonName VAR_053054 VAR_053054 disease not phenotype-associated VAR_053055 commonName VAR_053055 VAR_053055 disease not phenotype-associated VAR_053056 commonName VAR_053056 VAR_053056 disease not phenotype-associated VAR_053057 commonName VAR_053057 VAR_053057 disease not phenotype-associated VAR_053058 commonName VAR_053058 VAR_053058 disease not phenotype-associated VAR_053061 commonName VAR_053061 VAR_053061 disease not phenotype-associated VAR_053062 commonName VAR_053062 VAR_053062 disease not phenotype-associated VAR_053063 commonName VAR_053063 VAR_053063 disease not phenotype-associated VAR_053064 commonName VAR_053064 VAR_053064 disease not phenotype-associated VAR_053065 commonName VAR_053065 VAR_053065 disease not phenotype-associated VAR_053069 commonName VAR_053069 VAR_053069 disease not phenotype-associated VAR_053070 commonName VAR_053070 VAR_053070 disease not phenotype-associated VAR_053071 commonName VAR_053071 VAR_053071 disease not phenotype-associated VAR_053072 commonName VAR_053072 VAR_053072 disease not phenotype-associated VAR_053073 commonName VAR_053073 VAR_053073 disease not phenotype-associated VAR_053074 commonName VAR_053074 VAR_053074 disease not phenotype-associated VAR_053075 commonName VAR_053075 VAR_053075 disease not phenotype-associated VAR_053078 commonName VAR_053078 VAR_053078 disease not phenotype-associated VAR_053079 commonName VAR_053079 VAR_053079 disease not phenotype-associated VAR_053082 commonName VAR_053082 VAR_053082 disease not phenotype-associated VAR_053084 commonName VAR_053084 VAR_053084 disease not phenotype-associated VAR_053085 commonName VAR_053085 VAR_053085 disease not phenotype-associated VAR_053086 commonName VAR_053086 VAR_053086 disease not phenotype-associated VAR_053087 commonName VAR_053087 VAR_053087 disease not phenotype-associated VAR_053088 commonName VAR_053088 VAR_053088 disease not phenotype-associated VAR_053089 commonName VAR_053089 VAR_053089 disease not phenotype-associated VAR_053090 commonName VAR_053090 VAR_053090 disease not phenotype-associated VAR_053091 commonName VAR_053091 VAR_053091 disease not phenotype-associated VAR_053092 commonName VAR_053092 VAR_053092 disease not phenotype-associated VAR_053093 commonName VAR_053093 VAR_053093 disease not phenotype-associated VAR_053094 commonName VAR_053094 VAR_053094 disease not phenotype-associated VAR_053095 commonName VAR_053095 VAR_053095 disease not phenotype-associated VAR_053096 commonName VAR_053096 VAR_053096 disease not phenotype-associated VAR_053097 commonName VAR_053097 VAR_053097 disease not phenotype-associated VAR_053098 commonName VAR_053098 VAR_053098 disease not phenotype-associated VAR_053099 commonName VAR_053099 VAR_053099 disease not phenotype-associated VAR_053100 commonName VAR_053100 VAR_053100 disease not phenotype-associated VAR_053101 commonName VAR_053101 VAR_053101 disease not phenotype-associated VAR_053102 commonName VAR_053102 VAR_053102 disease not phenotype-associated VAR_053103 commonName VAR_053103 VAR_053103 disease not phenotype-associated VAR_053104 commonName VAR_053104 VAR_053104 disease not phenotype-associated VAR_053105 commonName VAR_053105 VAR_053105 disease not phenotype-associated VAR_053106 commonName VAR_053106 VAR_053106 disease not phenotype-associated VAR_053107 commonName VAR_053107 VAR_053107 disease not phenotype-associated VAR_053108 commonName VAR_053108 VAR_053108 disease not phenotype-associated VAR_053109 commonName VAR_053109 VAR_053109 disease not phenotype-associated VAR_053110 commonName VAR_053110 VAR_053110 disease not phenotype-associated VAR_053111 commonName VAR_053111 VAR_053111 disease not phenotype-associated VAR_053112 commonName VAR_053112 VAR_053112 disease not phenotype-associated VAR_053114 commonName VAR_053114 VAR_053114 disease not phenotype-associated VAR_053115 commonName VAR_053115 VAR_053115 disease not phenotype-associated VAR_053116 commonName VAR_053116 VAR_053116 disease not phenotype-associated VAR_053117 commonName VAR_053117 VAR_053117 disease not phenotype-associated VAR_053118 commonName VAR_053118 VAR_053118 disease not phenotype-associated VAR_053119 commonName VAR_053119 VAR_053119 disease not phenotype-associated VAR_053120 commonName VAR_053120 VAR_053120 disease not phenotype-associated VAR_053121 commonName VAR_053121 VAR_053121 disease not phenotype-associated VAR_053122 commonName VAR_053122 VAR_053122 disease not phenotype-associated VAR_053123 commonName VAR_053123 VAR_053123 disease not phenotype-associated VAR_053124 commonName VAR_053124 HbVar.684 ethnic African VAR_053124 disease not phenotype-associated VAR_053125 commonName VAR_053125 VAR_053125 disease not phenotype-associated VAR_053126 commonName VAR_053126 VAR_053126 disease not phenotype-associated VAR_053127 commonName VAR_053127 VAR_053127 disease not phenotype-associated VAR_053128 commonName VAR_053128 VAR_053128 disease not phenotype-associated VAR_053129 commonName VAR_053129 VAR_053129 disease not phenotype-associated VAR_053130 commonName VAR_053130 VAR_053130 disease not phenotype-associated VAR_053131 commonName VAR_053131 VAR_053131 disease not phenotype-associated VAR_053132 commonName VAR_053132 VAR_053132 disease not phenotype-associated VAR_053133 commonName VAR_053133 VAR_053133 disease not phenotype-associated VAR_053134 commonName VAR_053134 VAR_053134 disease not phenotype-associated VAR_053135 commonName VAR_053135 VAR_053135 disease not phenotype-associated VAR_053136 commonName VAR_053136 VAR_053136 disease not phenotype-associated VAR_053137 commonName VAR_053137 VAR_053137 disease not phenotype-associated VAR_053138 commonName VAR_053138 VAR_053138 disease not phenotype-associated VAR_053139 commonName VAR_053139 VAR_053139 disease not phenotype-associated VAR_053140 commonName VAR_053140 VAR_053140 disease not phenotype-associated VAR_053141 commonName VAR_053141 VAR_053141 disease not phenotype-associated VAR_053142 commonName VAR_053142 VAR_053142 disease not phenotype-associated VAR_053144 commonName VAR_053144 VAR_053144 disease not phenotype-associated VAR_053145 commonName VAR_053145 VAR_053145 disease not phenotype-associated VAR_053146 commonName VAR_053146 VAR_053146 disease not phenotype-associated VAR_053147 commonName VAR_053147 VAR_053147 disease not phenotype-associated VAR_053148 commonName VAR_053148 VAR_053148 disease not phenotype-associated VAR_053149 commonName VAR_053149 VAR_053149 disease not phenotype-associated VAR_053150 commonName VAR_053150 VAR_053150 disease not phenotype-associated VAR_053151 commonName VAR_053151 VAR_053151 disease not phenotype-associated VAR_053152 commonName VAR_053152 VAR_053152 disease not phenotype-associated VAR_053153 commonName VAR_053153 VAR_053153 disease not phenotype-associated VAR_053154 commonName VAR_053154 VAR_053154 disease not phenotype-associated VAR_053155 commonName VAR_053155 VAR_053155 disease not phenotype-associated VAR_053156 commonName VAR_053156 VAR_053156 disease not phenotype-associated VAR_053157 commonName VAR_053157 VAR_053157 disease not phenotype-associated VAR_053158 commonName VAR_053158 VAR_053158 disease not phenotype-associated VAR_053159 commonName VAR_053159 VAR_053159 disease not phenotype-associated VAR_053160 commonName VAR_053160 VAR_053160 disease not phenotype-associated VAR_053161 commonName VAR_053161 VAR_053161 disease not phenotype-associated VAR_053162 commonName VAR_053162 VAR_053162 disease not phenotype-associated VAR_053163 commonName VAR_053163 VAR_053163 disease not phenotype-associated VAR_053164 commonName VAR_053164 VAR_053164 disease not phenotype-associated VAR_053165 commonName VAR_053165 VAR_053165 disease not phenotype-associated VAR_053166 commonName VAR_053166 VAR_053166 disease not phenotype-associated VAR_053167 commonName VAR_053167 VAR_053167 disease not phenotype-associated VAR_053168 commonName VAR_053168 VAR_053168 disease not phenotype-associated VAR_053169 commonName VAR_053169 VAR_053169 disease not phenotype-associated VAR_053170 commonName VAR_053170 VAR_053170 disease not phenotype-associated VAR_053171 commonName VAR_053171 VAR_053171 disease not phenotype-associated VAR_053172 commonName VAR_053172 VAR_053172 disease not phenotype-associated VAR_053173 commonName VAR_053173 VAR_053173 disease not phenotype-associated VAR_053174 commonName VAR_053174 VAR_053174 disease not phenotype-associated VAR_053175 commonName VAR_053175 VAR_053175 disease not phenotype-associated VAR_053176 commonName VAR_053176 VAR_053176 disease not phenotype-associated VAR_053177 commonName VAR_053177 VAR_053177 disease not phenotype-associated VAR_053178 commonName VAR_053178 VAR_053178 disease not phenotype-associated VAR_053179 commonName VAR_053179 VAR_053179 disease not phenotype-associated VAR_053180 commonName VAR_053180 VAR_053180 disease not phenotype-associated VAR_053181 commonName VAR_053181 VAR_053181 disease not phenotype-associated VAR_053182 commonName VAR_053182 VAR_053182 disease not phenotype-associated VAR_053183 commonName VAR_053183 VAR_053183 disease not phenotype-associated VAR_053184 commonName VAR_053184 VAR_053184 disease not phenotype-associated VAR_053185 commonName VAR_053185 VAR_053185 disease not phenotype-associated VAR_053186 commonName VAR_053186 VAR_053186 disease not phenotype-associated VAR_053187 commonName VAR_053187 VAR_053187 disease not phenotype-associated VAR_053188 commonName VAR_053188 VAR_053188 disease not phenotype-associated VAR_053189 commonName VAR_053189 VAR_053189 disease not phenotype-associated VAR_053190 commonName VAR_053190 VAR_053190 disease not phenotype-associated VAR_053191 commonName VAR_053191 VAR_053191 disease not phenotype-associated VAR_053192 commonName VAR_053192 VAR_053192 disease not phenotype-associated VAR_053193 commonName VAR_053193 VAR_053193 disease not phenotype-associated VAR_053194 commonName VAR_053194 VAR_053194 disease not phenotype-associated VAR_053195 commonName VAR_053195 VAR_053195 disease not phenotype-associated VAR_053196 commonName VAR_053196 VAR_053196 disease not phenotype-associated VAR_053197 commonName VAR_053197 VAR_053197 disease not phenotype-associated VAR_053198 commonName VAR_053198 VAR_053198 disease not phenotype-associated VAR_053199 commonName VAR_053199 VAR_053199 disease not phenotype-associated VAR_053200 commonName VAR_053200 VAR_053200 disease not phenotype-associated VAR_053201 commonName VAR_053201 VAR_053201 disease not phenotype-associated VAR_053202 commonName VAR_053202 VAR_053202 disease not phenotype-associated VAR_053203 commonName VAR_053203 VAR_053203 disease not phenotype-associated VAR_053204 commonName VAR_053204 VAR_053204 disease not phenotype-associated VAR_053205 commonName VAR_053205 VAR_053205 disease not phenotype-associated VAR_053206 commonName VAR_053206 VAR_053206 disease not phenotype-associated VAR_053207 commonName VAR_053207 VAR_053207 disease not phenotype-associated VAR_053208 commonName VAR_053208 VAR_053208 disease not phenotype-associated VAR_053209 commonName VAR_053209 VAR_053209 disease not phenotype-associated VAR_053210 commonName VAR_053210 VAR_053210 disease not phenotype-associated VAR_053213 commonName VAR_053213 VAR_053213 disease not phenotype-associated VAR_053214 commonName VAR_053214 VAR_053214 disease not phenotype-associated VAR_053215 commonName VAR_053215 VAR_053215 disease not phenotype-associated VAR_053216 commonName VAR_053216 VAR_053216 disease not phenotype-associated VAR_053217 commonName VAR_053217 VAR_053217 disease not phenotype-associated VAR_053218 commonName VAR_053218 VAR_053218 disease not phenotype-associated VAR_053219 commonName VAR_053219 VAR_053219 disease not phenotype-associated VAR_053220 commonName VAR_053220 VAR_053220 disease not phenotype-associated VAR_053221 commonName VAR_053221 VAR_053221 disease not phenotype-associated VAR_053222 commonName VAR_053222 VAR_053222 disease not phenotype-associated VAR_053223 commonName VAR_053223 VAR_053223 disease not phenotype-associated VAR_053224 commonName VAR_053224 VAR_053224 disease not phenotype-associated VAR_053225 commonName VAR_053225 VAR_053225 disease not phenotype-associated VAR_053226 commonName VAR_053226 VAR_053226 disease not phenotype-associated VAR_053227 commonName VAR_053227 VAR_053227 disease not phenotype-associated VAR_053228 commonName VAR_053228 VAR_053228 disease not phenotype-associated VAR_053229 commonName VAR_053229 VAR_053229 disease not phenotype-associated VAR_053230 commonName VAR_053230 VAR_053230 disease not phenotype-associated VAR_053231 commonName VAR_053231 VAR_053231 disease not phenotype-associated VAR_053232 commonName VAR_053232 VAR_053232 disease not phenotype-associated VAR_053233 commonName VAR_053233 VAR_053233 disease not phenotype-associated VAR_053234 commonName VAR_053234 VAR_053234 disease not phenotype-associated VAR_053235 commonName VAR_053235 VAR_053235 disease not phenotype-associated VAR_053236 commonName VAR_053236 VAR_053236 disease not phenotype-associated VAR_053237 commonName VAR_053237 VAR_053237 disease not phenotype-associated VAR_053238 commonName VAR_053238 VAR_053238 disease not phenotype-associated VAR_053239 commonName VAR_053239 VAR_053239 disease not phenotype-associated VAR_053240 commonName VAR_053240 VAR_053240 disease not phenotype-associated VAR_053241 commonName VAR_053241 VAR_053241 disease not phenotype-associated VAR_053242 commonName VAR_053242 VAR_053242 disease not phenotype-associated VAR_053243 commonName VAR_053243 VAR_053243 disease not phenotype-associated VAR_053244 commonName VAR_053244 VAR_053244 disease not phenotype-associated VAR_053245 commonName VAR_053245 VAR_053245 disease not phenotype-associated VAR_053246 commonName VAR_053246 VAR_053246 disease not phenotype-associated VAR_053253 commonName VAR_053253 VAR_053253 disease not phenotype-associated VAR_053257 commonName VAR_053257 VAR_053257 disease not phenotype-associated VAR_053258 commonName VAR_053258 VAR_053258 disease not phenotype-associated VAR_053259 commonName VAR_053259 VAR_053259 disease not phenotype-associated VAR_053260 commonName VAR_053260 VAR_053260 disease not phenotype-associated VAR_053261 commonName VAR_053261 VAR_053261 disease not phenotype-associated VAR_053262 commonName VAR_053262 VAR_053262 disease not phenotype-associated VAR_053263 commonName VAR_053263 VAR_053263 disease not phenotype-associated VAR_053264 commonName VAR_053264 VAR_053264 disease not phenotype-associated VAR_053265 commonName VAR_053265 VAR_053265 disease not phenotype-associated VAR_053266 commonName VAR_053266 VAR_053266 disease not phenotype-associated VAR_053267 commonName VAR_053267 VAR_053267 disease not phenotype-associated VAR_053268 commonName VAR_053268 VAR_053268 disease not phenotype-associated VAR_053269 commonName VAR_053269 VAR_053269 disease not phenotype-associated VAR_053270 commonName VAR_053270 VAR_053270 disease not phenotype-associated VAR_053271 commonName VAR_053271 VAR_053271 disease not phenotype-associated VAR_053272 commonName VAR_053272 VAR_053272 disease not phenotype-associated VAR_053273 commonName VAR_053273 VAR_053273 disease not phenotype-associated VAR_053274 commonName VAR_053274 VAR_053274 disease not phenotype-associated VAR_053275 commonName VAR_053275 VAR_053275 disease not phenotype-associated VAR_053276 commonName VAR_053276 VAR_053276 disease not phenotype-associated VAR_053277 commonName VAR_053277 VAR_053277 disease not phenotype-associated VAR_053278 commonName VAR_053278 VAR_053278 disease not phenotype-associated VAR_053279 commonName VAR_053279 VAR_053279 disease not phenotype-associated VAR_053280 commonName VAR_053280 VAR_053280 disease not phenotype-associated VAR_053281 commonName VAR_053281 VAR_053281 disease not phenotype-associated VAR_053282 commonName VAR_053282 VAR_053282 disease not phenotype-associated VAR_053283 commonName VAR_053283 VAR_053283 disease not phenotype-associated VAR_053284 commonName VAR_053284 VAR_053284 disease not phenotype-associated VAR_053285 commonName VAR_053285 VAR_053285 disease not phenotype-associated VAR_053286 commonName VAR_053286 VAR_053286 disease not phenotype-associated VAR_053287 commonName VAR_053287 VAR_053287 disease not phenotype-associated VAR_053288 commonName VAR_053288 VAR_053288 disease not phenotype-associated VAR_053289 commonName VAR_053289 VAR_053289 disease not phenotype-associated VAR_053290 commonName VAR_053290 VAR_053290 disease not phenotype-associated VAR_053291 commonName VAR_053291 VAR_053291 disease not phenotype-associated VAR_053292 commonName VAR_053292 VAR_053292 disease not phenotype-associated VAR_053293 commonName VAR_053293 VAR_053293 disease not phenotype-associated VAR_053295 commonName VAR_053295 VAR_053295 disease not phenotype-associated VAR_053296 commonName VAR_053296 VAR_053296 disease not phenotype-associated VAR_053297 commonName VAR_053297 VAR_053297 disease not phenotype-associated VAR_053299 commonName VAR_053299 VAR_053299 disease not phenotype-associated VAR_053300 commonName VAR_053300 VAR_053300 disease not phenotype-associated VAR_053301 commonName VAR_053301 VAR_053301 disease not phenotype-associated VAR_053302 commonName VAR_053302 VAR_053302 disease not phenotype-associated VAR_053303 commonName VAR_053303 VAR_053303 disease not phenotype-associated VAR_053304 commonName VAR_053304 VAR_053304 disease not phenotype-associated VAR_053305 commonName VAR_053305 VAR_053305 disease not phenotype-associated VAR_053306 commonName VAR_053306 VAR_053306 disease not phenotype-associated VAR_053307 commonName VAR_053307 VAR_053307 disease not phenotype-associated VAR_053308 commonName VAR_053308 VAR_053308 disease not phenotype-associated VAR_053309 commonName VAR_053309 VAR_053309 disease not phenotype-associated VAR_053310 commonName VAR_053310 VAR_053310 disease not phenotype-associated VAR_053311 commonName VAR_053311 VAR_053311 disease not phenotype-associated VAR_053312 commonName VAR_053312 VAR_053312 disease not phenotype-associated VAR_053313 commonName VAR_053313 VAR_053313 disease not phenotype-associated VAR_053314 commonName VAR_053314 VAR_053314 disease not phenotype-associated VAR_053315 commonName VAR_053315 VAR_053315 disease not phenotype-associated VAR_053316 commonName VAR_053316 VAR_053316 disease not phenotype-associated VAR_053317 commonName VAR_053317 VAR_053317 disease not phenotype-associated VAR_053318 commonName VAR_053318 VAR_053318 disease not phenotype-associated VAR_053319 commonName VAR_053319 VAR_053319 disease not phenotype-associated VAR_053320 commonName VAR_053320 VAR_053320 disease not phenotype-associated VAR_053321 commonName VAR_053321 VAR_053321 disease not phenotype-associated VAR_053322 commonName VAR_053322 VAR_053322 disease not phenotype-associated VAR_053323 commonName VAR_053323 VAR_053323 disease not phenotype-associated VAR_053324 commonName VAR_053324 VAR_053324 disease not phenotype-associated VAR_053325 commonName VAR_053325 VAR_053325 disease not phenotype-associated VAR_053326 commonName VAR_053326 VAR_053326 disease not phenotype-associated VAR_053327 commonName VAR_053327 VAR_053327 disease not phenotype-associated VAR_053328 commonName VAR_053328 VAR_053328 disease not phenotype-associated VAR_053329 commonName VAR_053329 VAR_053329 disease not phenotype-associated VAR_053330 commonName VAR_053330 VAR_053330 disease not phenotype-associated VAR_053331 commonName VAR_053331 VAR_053331 disease not phenotype-associated VAR_053332 commonName VAR_053332 VAR_053332 disease not phenotype-associated VAR_053333 commonName VAR_053333 VAR_053333 disease not phenotype-associated VAR_053334 commonName VAR_053334 VAR_053334 disease not phenotype-associated VAR_053335 commonName VAR_053335 VAR_053335 disease not phenotype-associated VAR_053336 commonName VAR_053336 VAR_053336 disease not phenotype-associated VAR_053337 commonName VAR_053337 VAR_053337 disease not phenotype-associated VAR_053338 commonName VAR_053338 VAR_053338 disease not phenotype-associated VAR_053339 commonName VAR_053339 VAR_053339 disease not phenotype-associated VAR_053340 commonName VAR_053340 VAR_053340 disease not phenotype-associated VAR_053341 commonName VAR_053341 VAR_053341 disease not phenotype-associated VAR_053342 commonName VAR_053342 VAR_053342 disease not phenotype-associated VAR_053343 commonName VAR_053343 VAR_053343 disease not phenotype-associated VAR_053344 commonName VAR_053344 VAR_053344 disease not phenotype-associated VAR_053345 commonName VAR_053345 VAR_053345 disease not phenotype-associated VAR_053346 commonName VAR_053346 VAR_053346 disease not phenotype-associated VAR_053347 commonName VAR_053347 VAR_053347 disease not phenotype-associated VAR_053348 commonName VAR_053348 VAR_053348 disease not phenotype-associated VAR_053349 commonName VAR_053349 VAR_053349 disease not phenotype-associated VAR_053350 commonName VAR_053350 VAR_053350 disease not phenotype-associated VAR_053351 commonName VAR_053351 VAR_053351 disease not phenotype-associated VAR_053352 commonName VAR_053352 VAR_053352 disease not phenotype-associated VAR_053353 commonName VAR_053353 VAR_053353 disease not phenotype-associated VAR_053354 commonName VAR_053354 VAR_053354 disease not phenotype-associated VAR_053355 commonName VAR_053355 VAR_053355 disease not phenotype-associated VAR_053356 commonName VAR_053356 VAR_053356 disease not phenotype-associated VAR_053357 commonName VAR_053357 VAR_053357 disease not phenotype-associated VAR_053358 commonName VAR_053358 VAR_053358 disease not phenotype-associated VAR_053359 commonName VAR_053359 VAR_053359 disease not phenotype-associated VAR_053360 commonName VAR_053360 VAR_053360 disease not phenotype-associated VAR_053361 commonName VAR_053361 VAR_053361 disease not phenotype-associated VAR_053362 commonName VAR_053362 VAR_053362 disease not phenotype-associated VAR_053363 commonName VAR_053363 VAR_053363 disease not phenotype-associated VAR_053364 commonName VAR_053364 VAR_053364 disease not phenotype-associated VAR_053365 commonName VAR_053365 VAR_053365 disease not phenotype-associated VAR_053366 commonName VAR_053366 VAR_053366 disease not phenotype-associated VAR_053367 commonName VAR_053367 VAR_053367 disease not phenotype-associated VAR_053368 commonName VAR_053368 VAR_053368 disease not phenotype-associated VAR_053369 commonName VAR_053369 VAR_053369 disease not phenotype-associated VAR_053370 commonName VAR_053370 VAR_053370 disease not phenotype-associated VAR_053371 commonName VAR_053371 VAR_053371 disease not phenotype-associated VAR_053372 commonName VAR_053372 VAR_053372 disease not phenotype-associated VAR_053373 commonName VAR_053373 VAR_053373 disease not phenotype-associated VAR_053374 commonName VAR_053374 VAR_053374 disease not phenotype-associated VAR_053375 commonName VAR_053375 VAR_053375 disease not phenotype-associated VAR_053376 commonName VAR_053376 VAR_053376 disease not phenotype-associated VAR_053377 commonName VAR_053377 VAR_053377 disease not phenotype-associated VAR_053378 commonName VAR_053378 VAR_053378 disease not phenotype-associated VAR_053379 commonName VAR_053379 VAR_053379 disease not phenotype-associated VAR_053380 commonName VAR_053380 VAR_053380 disease not phenotype-associated VAR_053381 commonName VAR_053381 VAR_053381 disease not phenotype-associated VAR_053382 commonName VAR_053382 VAR_053382 disease not phenotype-associated VAR_053383 commonName VAR_053383 VAR_053383 disease not phenotype-associated VAR_053384 commonName VAR_053384 VAR_053384 disease not phenotype-associated VAR_053385 commonName VAR_053385 VAR_053385 disease not phenotype-associated VAR_053386 commonName VAR_053386 VAR_053386 disease not phenotype-associated VAR_053387 commonName VAR_053387 VAR_053387 disease not phenotype-associated VAR_053388 commonName VAR_053388 VAR_053388 disease not phenotype-associated VAR_053389 commonName VAR_053389 VAR_053389 disease not phenotype-associated VAR_053390 commonName VAR_053390 VAR_053390 disease not phenotype-associated VAR_053391 commonName VAR_053391 VAR_053391 disease not phenotype-associated VAR_053392 commonName VAR_053392 VAR_053392 disease not phenotype-associated VAR_053394 commonName VAR_053394 VAR_053394 disease not phenotype-associated VAR_053395 commonName VAR_053395 VAR_053395 disease not phenotype-associated VAR_053396 commonName VAR_053396 VAR_053396 disease not phenotype-associated VAR_053397 commonName VAR_053397 VAR_053397 disease not phenotype-associated VAR_053398 commonName VAR_053398 VAR_053398 disease not phenotype-associated VAR_053399 commonName VAR_053399 VAR_053399 disease not phenotype-associated VAR_053400 commonName VAR_053400 VAR_053400 disease not phenotype-associated VAR_053401 commonName VAR_053401 VAR_053401 disease not phenotype-associated VAR_053402 commonName VAR_053402 VAR_053402 disease not phenotype-associated VAR_053403 commonName VAR_053403 VAR_053403 disease not phenotype-associated VAR_053404 commonName VAR_053404 VAR_053404 disease not phenotype-associated VAR_053405 commonName VAR_053405 VAR_053405 disease not phenotype-associated VAR_053406 commonName VAR_053406 VAR_053406 disease not phenotype-associated VAR_053407 commonName VAR_053407 VAR_053407 disease not phenotype-associated VAR_053408 commonName VAR_053408 VAR_053408 disease not phenotype-associated VAR_053409 commonName VAR_053409 VAR_053409 disease not phenotype-associated VAR_053410 commonName VAR_053410 VAR_053410 disease not phenotype-associated VAR_053411 commonName VAR_053411 VAR_053411 disease not phenotype-associated VAR_053412 commonName VAR_053412 VAR_053412 disease not phenotype-associated VAR_053413 commonName VAR_053413 VAR_053413 disease not phenotype-associated VAR_053414 commonName VAR_053414 VAR_053414 disease not phenotype-associated VAR_053415 commonName VAR_053415 VAR_053415 disease not phenotype-associated VAR_053416 commonName VAR_053416 VAR_053416 disease not phenotype-associated VAR_053417 commonName VAR_053417 VAR_053417 disease not phenotype-associated VAR_053418 commonName VAR_053418 VAR_053418 disease not phenotype-associated VAR_053419 commonName VAR_053419 VAR_053419 disease not phenotype-associated VAR_053421 commonName VAR_053421 VAR_053421 disease not phenotype-associated VAR_053422 commonName VAR_053422 VAR_053422 disease not phenotype-associated VAR_053423 commonName VAR_053423 VAR_053423 disease not phenotype-associated VAR_053426 commonName VAR_053426 VAR_053426 disease not phenotype-associated VAR_053427 commonName VAR_053427 VAR_053427 disease not phenotype-associated VAR_053428 commonName VAR_053428 VAR_053428 disease not phenotype-associated VAR_053429 commonName VAR_053429 VAR_053429 disease not phenotype-associated VAR_053430 commonName VAR_053430 VAR_053430 disease not phenotype-associated VAR_053431 commonName VAR_053431 VAR_053431 disease not phenotype-associated VAR_053432 commonName VAR_053432 VAR_053432 disease not phenotype-associated VAR_053435 commonName VAR_053435 VAR_053435 disease not phenotype-associated VAR_053436 commonName VAR_053436 VAR_053436 disease not phenotype-associated VAR_053437 commonName VAR_053437 VAR_053437 disease not phenotype-associated VAR_053438 commonName VAR_053438 VAR_053438 disease not phenotype-associated VAR_053439 commonName VAR_053439 VAR_053439 disease not phenotype-associated VAR_053440 commonName VAR_053440 VAR_053440 disease not phenotype-associated VAR_053441 commonName VAR_053441 VAR_053441 disease not phenotype-associated VAR_053442 commonName VAR_053442 VAR_053442 disease not phenotype-associated VAR_053444 commonName VAR_053444 VAR_053444 disease not phenotype-associated VAR_053445 commonName VAR_053445 VAR_053445 disease not phenotype-associated VAR_053447 commonName VAR_053447 VAR_053447 disease not phenotype-associated VAR_053448 commonName VAR_053448 VAR_053448 disease not phenotype-associated VAR_053449 commonName VAR_053449 VAR_053449 disease not phenotype-associated VAR_053450 commonName VAR_053450 VAR_053450 disease not phenotype-associated VAR_053451 commonName VAR_053451 VAR_053451 disease not phenotype-associated VAR_053452 commonName VAR_053452 VAR_053452 disease not phenotype-associated VAR_053453 commonName VAR_053453 VAR_053453 disease not phenotype-associated VAR_053454 commonName VAR_053454 VAR_053454 disease not phenotype-associated VAR_053455 commonName VAR_053455 VAR_053455 disease not phenotype-associated VAR_053456 commonName VAR_053456 VAR_053456 disease not phenotype-associated VAR_053457 commonName VAR_053457 VAR_053457 disease not phenotype-associated VAR_053458 commonName VAR_053458 VAR_053458 disease not phenotype-associated VAR_053459 commonName VAR_053459 VAR_053459 disease not phenotype-associated VAR_053460 commonName VAR_053460 VAR_053460 disease not phenotype-associated VAR_053461 commonName VAR_053461 VAR_053461 disease not phenotype-associated VAR_053462 commonName VAR_053462 VAR_053462 disease not phenotype-associated VAR_053463 commonName VAR_053463 VAR_053463 disease not phenotype-associated VAR_053464 commonName VAR_053464 VAR_053464 disease not phenotype-associated VAR_053465 commonName VAR_053465 VAR_053465 disease not phenotype-associated VAR_053466 commonName VAR_053466 VAR_053466 disease not phenotype-associated VAR_053467 commonName VAR_053467 VAR_053467 disease not phenotype-associated VAR_053468 commonName VAR_053468 VAR_053468 disease not phenotype-associated VAR_053469 commonName VAR_053469 VAR_053469 disease not phenotype-associated VAR_053470 commonName VAR_053470 VAR_053470 disease not phenotype-associated VAR_053471 commonName VAR_053471 VAR_053471 disease not phenotype-associated VAR_053472 commonName VAR_053472 VAR_053472 disease not phenotype-associated VAR_053473 commonName VAR_053473 VAR_053473 disease not phenotype-associated VAR_053474 commonName VAR_053474 VAR_053474 disease not phenotype-associated VAR_053475 commonName VAR_053475 VAR_053475 disease not phenotype-associated VAR_053476 commonName VAR_053476 VAR_053476 disease not phenotype-associated VAR_053477 commonName VAR_053477 VAR_053477 disease not phenotype-associated VAR_053478 commonName VAR_053478 VAR_053478 disease not phenotype-associated VAR_053479 commonName VAR_053479 VAR_053479 disease not phenotype-associated VAR_053480 commonName VAR_053480 VAR_053480 disease not phenotype-associated VAR_053481 commonName VAR_053481 VAR_053481 disease not phenotype-associated VAR_053482 commonName VAR_053482 VAR_053482 disease not phenotype-associated VAR_053483 commonName VAR_053483 VAR_053483 disease not phenotype-associated VAR_053484 commonName VAR_053484 VAR_053484 disease not phenotype-associated VAR_053485 commonName VAR_053485 VAR_053485 disease not phenotype-associated VAR_053486 commonName VAR_053486 VAR_053486 disease not phenotype-associated VAR_053487 commonName VAR_053487 VAR_053487 disease not phenotype-associated VAR_053488 commonName VAR_053488 VAR_053488 disease not phenotype-associated VAR_053489 commonName VAR_053489 VAR_053489 disease not phenotype-associated VAR_053490 commonName VAR_053490 VAR_053490 disease not phenotype-associated VAR_053491 commonName VAR_053491 VAR_053491 disease not phenotype-associated VAR_053492 commonName VAR_053492 VAR_053492 disease not phenotype-associated VAR_053493 commonName VAR_053493 VAR_053493 disease not phenotype-associated VAR_053494 commonName VAR_053494 VAR_053494 disease not phenotype-associated VAR_053495 commonName VAR_053495 VAR_053495 disease not phenotype-associated VAR_053496 commonName VAR_053496 VAR_053496 disease not phenotype-associated VAR_053497 commonName VAR_053497 VAR_053497 disease not phenotype-associated VAR_053498 commonName VAR_053498 VAR_053498 disease not phenotype-associated VAR_053499 commonName VAR_053499 VAR_053499 disease not phenotype-associated VAR_053500 commonName VAR_053500 VAR_053500 disease not phenotype-associated VAR_053501 commonName VAR_053501 VAR_053501 disease not phenotype-associated VAR_053502 commonName VAR_053502 VAR_053502 disease not phenotype-associated VAR_053503 commonName VAR_053503 VAR_053503 disease not phenotype-associated VAR_053504 commonName VAR_053504 VAR_053504 disease not phenotype-associated VAR_053505 commonName VAR_053505 VAR_053505 disease not phenotype-associated VAR_053506 commonName VAR_053506 VAR_053506 disease not phenotype-associated VAR_053507 commonName VAR_053507 VAR_053507 disease not phenotype-associated VAR_053508 commonName VAR_053508 VAR_053508 disease not phenotype-associated VAR_053509 commonName VAR_053509 VAR_053509 disease not phenotype-associated VAR_053510 commonName VAR_053510 VAR_053510 disease not phenotype-associated VAR_053511 commonName VAR_053511 VAR_053511 disease not phenotype-associated VAR_053512 commonName VAR_053512 VAR_053512 disease not phenotype-associated VAR_053513 commonName VAR_053513 VAR_053513 disease not phenotype-associated VAR_053515 commonName VAR_053515 VAR_053515 disease not phenotype-associated VAR_053517 commonName VAR_053517 VAR_053517 disease not phenotype-associated VAR_053518 commonName VAR_053518 VAR_053518 disease not phenotype-associated VAR_053519 commonName VAR_053519 VAR_053519 disease not phenotype-associated VAR_053520 commonName VAR_053520 VAR_053520 disease not phenotype-associated VAR_053521 commonName VAR_053521 VAR_053521 disease not phenotype-associated VAR_053522 commonName VAR_053522 VAR_053522 disease not phenotype-associated VAR_053523 commonName VAR_053523 VAR_053523 disease not phenotype-associated VAR_053524 commonName VAR_053524 VAR_053524 disease not phenotype-associated VAR_053525 commonName VAR_053525 VAR_053525 disease not phenotype-associated VAR_053526 commonName VAR_053526 VAR_053526 disease not phenotype-associated VAR_053527 commonName VAR_053527 VAR_053527 disease not phenotype-associated VAR_053528 commonName VAR_053528 VAR_053528 disease not phenotype-associated VAR_053529 commonName VAR_053529 VAR_053529 disease not phenotype-associated VAR_053530 commonName VAR_053530 VAR_053530 disease not phenotype-associated VAR_053531 commonName VAR_053531 VAR_053531 disease not phenotype-associated VAR_053533 commonName VAR_053533 VAR_053533 disease not phenotype-associated VAR_053534 commonName VAR_053534 VAR_053534 disease not phenotype-associated VAR_053535 commonName VAR_053535 VAR_053535 disease not phenotype-associated VAR_053536 commonName VAR_053536 VAR_053536 disease not phenotype-associated VAR_053537 commonName VAR_053537 VAR_053537 disease not phenotype-associated VAR_053538 commonName VAR_053538 VAR_053538 disease not phenotype-associated VAR_053540 commonName VAR_053540 VAR_053540 disease not phenotype-associated VAR_053541 commonName VAR_053541 VAR_053541 disease not phenotype-associated VAR_053542 commonName VAR_053542 VAR_053542 disease not phenotype-associated VAR_053543 commonName VAR_053543 VAR_053543 disease not phenotype-associated VAR_053544 commonName VAR_053544 VAR_053544 disease not phenotype-associated VAR_053545 commonName VAR_053545 VAR_053545 disease not phenotype-associated VAR_053546 commonName VAR_053546 VAR_053546 disease not phenotype-associated VAR_053548 commonName VAR_053548 VAR_053548 disease not phenotype-associated VAR_053550 commonName VAR_053550 VAR_053550 disease not phenotype-associated VAR_053551 commonName VAR_053551 VAR_053551 disease not phenotype-associated VAR_053552 commonName VAR_053552 VAR_053552 disease not phenotype-associated VAR_053553 commonName VAR_053553 VAR_053553 disease not phenotype-associated VAR_053554 commonName VAR_053554 VAR_053554 disease not phenotype-associated VAR_053555 commonName VAR_053555 VAR_053555 disease not phenotype-associated VAR_053556 commonName VAR_053556 VAR_053556 disease not phenotype-associated VAR_053557 commonName VAR_053557 VAR_053557 disease not phenotype-associated VAR_053558 commonName VAR_053558 VAR_053558 disease not phenotype-associated VAR_053559 commonName VAR_053559 VAR_053559 disease not phenotype-associated VAR_053560 commonName VAR_053560 VAR_053560 disease not phenotype-associated VAR_053561 commonName VAR_053561 VAR_053561 disease not phenotype-associated VAR_053562 commonName VAR_053562 VAR_053562 disease not phenotype-associated VAR_053563 commonName VAR_053563 VAR_053563 disease not phenotype-associated VAR_053564 commonName VAR_053564 VAR_053564 disease not phenotype-associated VAR_053565 commonName VAR_053565 VAR_053565 disease not phenotype-associated VAR_053566 commonName VAR_053566 VAR_053566 disease not phenotype-associated VAR_053567 commonName VAR_053567 VAR_053567 disease not phenotype-associated VAR_053568 commonName VAR_053568 VAR_053568 disease not phenotype-associated VAR_053569 commonName VAR_053569 VAR_053569 disease not phenotype-associated VAR_053570 commonName VAR_053570 VAR_053570 disease not phenotype-associated VAR_053571 commonName VAR_053571 VAR_053571 disease not phenotype-associated VAR_053572 commonName VAR_053572 VAR_053572 disease not phenotype-associated VAR_053573 commonName VAR_053573 VAR_053573 disease not phenotype-associated VAR_053574 commonName VAR_053574 VAR_053574 disease not phenotype-associated VAR_053575 commonName VAR_053575 VAR_053575 disease not phenotype-associated VAR_053576 commonName VAR_053576 VAR_053576 disease not phenotype-associated VAR_053577 commonName VAR_053577 VAR_053577 disease not phenotype-associated VAR_053578 commonName VAR_053578 VAR_053578 disease not phenotype-associated VAR_053579 commonName VAR_053579 VAR_053579 disease not phenotype-associated VAR_053580 commonName VAR_053580 VAR_053580 disease not phenotype-associated VAR_053581 commonName VAR_053581 VAR_053581 disease not phenotype-associated VAR_053582 commonName VAR_053582 VAR_053582 disease not phenotype-associated VAR_053584 commonName VAR_053584 VAR_053584 disease not phenotype-associated VAR_053585 commonName VAR_053585 VAR_053585 disease not phenotype-associated VAR_053586 commonName VAR_053586 VAR_053586 disease not phenotype-associated VAR_053587 commonName VAR_053587 VAR_053587 disease not phenotype-associated VAR_053588 commonName VAR_053588 VAR_053588 disease not phenotype-associated VAR_053589 commonName VAR_053589 VAR_053589 disease not phenotype-associated VAR_053590 commonName VAR_053590 VAR_053590 disease not phenotype-associated VAR_053591 commonName VAR_053591 VAR_053591 disease not phenotype-associated VAR_053592 commonName VAR_053592 VAR_053592 disease not phenotype-associated VAR_053593 commonName VAR_053593 VAR_053593 disease not phenotype-associated VAR_053594 commonName VAR_053594 VAR_053594 disease not phenotype-associated VAR_053595 commonName VAR_053595 VAR_053595 disease not phenotype-associated VAR_053596 commonName VAR_053596 VAR_053596 disease not phenotype-associated VAR_053597 commonName VAR_053597 VAR_053597 disease not phenotype-associated VAR_053598 commonName VAR_053598 VAR_053598 disease not phenotype-associated VAR_053599 commonName VAR_053599 VAR_053599 disease not phenotype-associated VAR_053600 commonName VAR_053600 VAR_053600 disease not phenotype-associated VAR_053601 commonName VAR_053601 VAR_053601 disease not phenotype-associated VAR_053602 commonName VAR_053602 VAR_053602 disease not phenotype-associated VAR_053603 commonName VAR_053603 VAR_053603 disease not phenotype-associated VAR_053604 commonName VAR_053604 VAR_053604 disease not phenotype-associated VAR_053605 commonName VAR_053605 VAR_053605 disease not phenotype-associated VAR_053606 commonName VAR_053606 VAR_053606 disease not phenotype-associated VAR_053607 commonName VAR_053607 VAR_053607 disease not phenotype-associated VAR_053608 commonName VAR_053608 VAR_053608 disease not phenotype-associated VAR_053609 commonName VAR_053609 VAR_053609 disease not phenotype-associated VAR_053610 commonName VAR_053610 VAR_053610 disease not phenotype-associated VAR_053611 commonName VAR_053611 VAR_053611 disease not phenotype-associated VAR_053612 commonName VAR_053612 VAR_053612 disease not phenotype-associated VAR_053613 commonName VAR_053613 VAR_053613 disease not phenotype-associated VAR_053614 commonName VAR_053614 VAR_053614 disease not phenotype-associated VAR_053615 commonName VAR_053615 VAR_053615 disease not phenotype-associated VAR_053616 commonName VAR_053616 VAR_053616 disease not phenotype-associated VAR_053617 commonName VAR_053617 VAR_053617 disease not phenotype-associated VAR_053618 commonName VAR_053618 VAR_053618 disease not phenotype-associated VAR_053619 commonName VAR_053619 VAR_053619 disease not phenotype-associated VAR_053620 commonName VAR_053620 VAR_053620 disease not phenotype-associated VAR_053621 commonName VAR_053621 VAR_053621 disease not phenotype-associated VAR_053622 commonName VAR_053622 VAR_053622 disease not phenotype-associated VAR_053623 commonName VAR_053623 VAR_053623 disease not phenotype-associated VAR_053624 commonName VAR_053624 VAR_053624 disease not phenotype-associated VAR_053625 commonName VAR_053625 VAR_053625 disease not phenotype-associated VAR_053626 commonName VAR_053626 VAR_053626 disease not phenotype-associated VAR_053627 commonName VAR_053627 VAR_053627 disease not phenotype-associated VAR_053628 commonName VAR_053628 VAR_053628 disease not phenotype-associated VAR_053629 commonName VAR_053629 VAR_053629 disease not phenotype-associated VAR_053630 commonName VAR_053630 VAR_053630 disease not phenotype-associated VAR_053631 commonName VAR_053631 VAR_053631 disease not phenotype-associated VAR_053632 commonName VAR_053632 VAR_053632 disease not phenotype-associated VAR_053633 commonName VAR_053633 VAR_053633 disease not phenotype-associated VAR_053634 commonName VAR_053634 VAR_053634 disease not phenotype-associated VAR_053635 commonName VAR_053635 VAR_053635 disease not phenotype-associated VAR_053636 commonName VAR_053636 VAR_053636 disease not phenotype-associated VAR_053637 commonName VAR_053637 VAR_053637 disease not phenotype-associated VAR_053638 commonName VAR_053638 VAR_053638 disease not phenotype-associated VAR_053639 commonName VAR_053639 VAR_053639 disease not phenotype-associated VAR_053640 commonName VAR_053640 VAR_053640 disease not phenotype-associated VAR_053641 commonName VAR_053641 VAR_053641 disease not phenotype-associated VAR_053642 commonName VAR_053642 VAR_053642 disease not phenotype-associated VAR_053643 commonName VAR_053643 VAR_053643 disease not phenotype-associated VAR_053644 commonName VAR_053644 VAR_053644 disease not phenotype-associated VAR_053645 commonName VAR_053645 VAR_053645 disease not phenotype-associated VAR_053646 commonName VAR_053646 VAR_053646 disease not phenotype-associated VAR_053647 commonName VAR_053647 VAR_053647 disease not phenotype-associated VAR_053648 commonName VAR_053648 VAR_053648 disease not phenotype-associated VAR_053649 commonName VAR_053649 VAR_053649 disease not phenotype-associated VAR_053650 commonName VAR_053650 VAR_053650 disease not phenotype-associated VAR_053651 commonName VAR_053651 VAR_053651 disease not phenotype-associated VAR_053652 commonName VAR_053652 VAR_053652 disease not phenotype-associated VAR_053653 commonName VAR_053653 VAR_053653 disease not phenotype-associated VAR_053654 commonName VAR_053654 VAR_053654 disease not phenotype-associated VAR_053655 commonName VAR_053655 VAR_053655 disease not phenotype-associated VAR_053656 commonName VAR_053656 VAR_053656 disease not phenotype-associated VAR_053657 commonName VAR_053657 VAR_053657 disease not phenotype-associated VAR_053658 commonName VAR_053658 VAR_053658 disease not phenotype-associated VAR_053659 commonName VAR_053659 VAR_053659 disease not phenotype-associated VAR_053660 commonName VAR_053660 VAR_053660 disease not phenotype-associated VAR_053661 commonName VAR_053661 VAR_053661 disease not phenotype-associated VAR_053662 commonName VAR_053662 VAR_053662 disease not phenotype-associated VAR_053663 commonName VAR_053663 VAR_053663 disease not phenotype-associated VAR_053664 commonName VAR_053664 VAR_053664 disease not phenotype-associated VAR_053665 commonName VAR_053665 VAR_053665 disease not phenotype-associated VAR_053666 commonName VAR_053666 VAR_053666 disease not phenotype-associated VAR_053667 commonName VAR_053667 VAR_053667 disease not phenotype-associated VAR_053668 commonName VAR_053668 VAR_053668 disease not phenotype-associated VAR_053669 commonName VAR_053669 VAR_053669 disease not phenotype-associated VAR_053670 commonName VAR_053670 VAR_053670 disease not phenotype-associated VAR_053671 commonName VAR_053671 VAR_053671 disease not phenotype-associated VAR_053672 commonName VAR_053672 VAR_053672 disease not phenotype-associated VAR_053673 commonName VAR_053673 VAR_053673 disease not phenotype-associated VAR_053675 commonName VAR_053675 VAR_053675 disease not phenotype-associated VAR_053676 commonName VAR_053676 VAR_053676 disease not phenotype-associated VAR_053677 commonName VAR_053677 VAR_053677 disease not phenotype-associated VAR_053678 commonName VAR_053678 VAR_053678 disease not phenotype-associated VAR_053679 commonName VAR_053679 VAR_053679 disease not phenotype-associated VAR_053680 commonName VAR_053680 VAR_053680 disease not phenotype-associated VAR_053681 commonName VAR_053681 VAR_053681 disease not phenotype-associated VAR_053682 commonName VAR_053682 VAR_053682 disease not phenotype-associated VAR_053683 commonName VAR_053683 VAR_053683 disease not phenotype-associated VAR_053684 commonName VAR_053684 VAR_053684 disease not phenotype-associated VAR_053685 commonName VAR_053685 VAR_053685 disease not phenotype-associated VAR_053686 commonName VAR_053686 VAR_053686 disease not phenotype-associated VAR_053687 commonName VAR_053687 VAR_053687 disease not phenotype-associated VAR_053688 commonName VAR_053688 VAR_053688 disease not phenotype-associated VAR_053690 commonName VAR_053690 VAR_053690 disease not phenotype-associated VAR_053691 commonName VAR_053691 VAR_053691 disease not phenotype-associated VAR_053694 commonName VAR_053694 VAR_053694 disease not phenotype-associated VAR_053695 commonName VAR_053695 VAR_053695 disease not phenotype-associated VAR_053696 commonName VAR_053696 VAR_053696 disease not phenotype-associated VAR_053697 commonName VAR_053697 VAR_053697 disease not phenotype-associated VAR_053698 commonName VAR_053698 VAR_053698 disease not phenotype-associated VAR_053699 commonName VAR_053699 VAR_053699 disease not phenotype-associated VAR_053700 commonName VAR_053700 VAR_053700 disease not phenotype-associated VAR_053703 commonName VAR_053703 VAR_053703 disease not phenotype-associated VAR_053704 commonName VAR_053704 VAR_053704 disease not phenotype-associated VAR_053705 commonName VAR_053705 VAR_053705 disease not phenotype-associated VAR_053706 commonName VAR_053706 VAR_053706 disease not phenotype-associated VAR_053707 commonName VAR_053707 VAR_053707 disease not phenotype-associated VAR_053708 commonName VAR_053708 VAR_053708 disease not phenotype-associated VAR_053709 commonName VAR_053709 VAR_053709 disease not phenotype-associated VAR_053710 commonName VAR_053710 VAR_053710 disease not phenotype-associated VAR_053711 commonName VAR_053711 VAR_053711 disease not phenotype-associated VAR_053712 commonName VAR_053712 VAR_053712 disease not phenotype-associated VAR_053713 commonName VAR_053713 VAR_053713 disease not phenotype-associated VAR_053714 commonName VAR_053714 VAR_053714 disease not phenotype-associated VAR_053715 commonName VAR_053715 VAR_053715 disease not phenotype-associated VAR_053716 commonName VAR_053716 VAR_053716 disease not phenotype-associated VAR_053717 commonName VAR_053717 VAR_053717 disease not phenotype-associated VAR_053718 commonName VAR_053718 VAR_053718 disease not phenotype-associated VAR_053719 commonName VAR_053719 VAR_053719 disease not phenotype-associated VAR_053720 commonName VAR_053720 VAR_053720 disease not phenotype-associated VAR_053721 commonName VAR_053721 VAR_053721 disease not phenotype-associated VAR_053722 commonName VAR_053722 VAR_053722 disease not phenotype-associated VAR_053723 commonName VAR_053723 VAR_053723 disease not phenotype-associated VAR_053724 commonName VAR_053724 VAR_053724 disease not phenotype-associated VAR_053725 commonName VAR_053725 VAR_053725 disease not phenotype-associated VAR_053726 commonName VAR_053726 VAR_053726 disease not phenotype-associated VAR_053727 commonName VAR_053727 VAR_053727 disease not phenotype-associated VAR_053728 commonName VAR_053728 VAR_053728 disease not phenotype-associated VAR_053729 commonName VAR_053729 VAR_053729 disease not phenotype-associated VAR_053730 commonName VAR_053730 VAR_053730 disease not phenotype-associated VAR_053731 commonName VAR_053731 VAR_053731 disease not phenotype-associated VAR_053732 commonName VAR_053732 VAR_053732 disease not phenotype-associated VAR_053733 commonName VAR_053733 VAR_053733 disease not phenotype-associated VAR_053734 commonName VAR_053734 VAR_053734 disease not phenotype-associated VAR_053735 commonName VAR_053735 VAR_053735 disease not phenotype-associated VAR_053736 commonName VAR_053736 VAR_053736 disease not phenotype-associated VAR_053737 commonName VAR_053737 VAR_053737 disease not phenotype-associated VAR_053738 commonName VAR_053738 VAR_053738 disease not phenotype-associated VAR_053739 commonName VAR_053739 VAR_053739 disease not phenotype-associated VAR_053740 commonName VAR_053740 VAR_053740 disease not phenotype-associated VAR_053741 commonName VAR_053741 VAR_053741 disease not phenotype-associated VAR_053742 commonName VAR_053742 VAR_053742 disease not phenotype-associated VAR_053743 commonName VAR_053743 VAR_053743 disease not phenotype-associated VAR_053744 commonName VAR_053744 VAR_053744 disease not phenotype-associated VAR_053745 commonName VAR_053745 VAR_053745 disease not phenotype-associated VAR_053747 commonName VAR_053747 VAR_053747 disease not phenotype-associated VAR_053748 commonName VAR_053748 VAR_053748 disease not phenotype-associated VAR_053749 commonName VAR_053749 VAR_053749 disease not phenotype-associated VAR_053750 commonName VAR_053750 VAR_053750 disease not phenotype-associated VAR_053751 commonName VAR_053751 VAR_053751 disease not phenotype-associated VAR_053752 commonName VAR_053752 VAR_053752 disease not phenotype-associated VAR_053753 commonName VAR_053753 VAR_053753 disease not phenotype-associated VAR_053754 commonName VAR_053754 VAR_053754 disease not phenotype-associated VAR_053755 commonName VAR_053755 VAR_053755 disease not phenotype-associated VAR_053756 commonName VAR_053756 VAR_053756 disease not phenotype-associated VAR_053757 commonName VAR_053757 VAR_053757 disease not phenotype-associated VAR_053758 commonName VAR_053758 VAR_053758 disease not phenotype-associated VAR_053759 commonName VAR_053759 VAR_053759 disease not phenotype-associated VAR_053760 commonName VAR_053760 VAR_053760 disease not phenotype-associated VAR_053761 commonName VAR_053761 VAR_053761 disease not phenotype-associated VAR_053762 commonName VAR_053762 VAR_053762 disease not phenotype-associated VAR_053763 commonName VAR_053763 VAR_053763 disease not phenotype-associated VAR_053764 commonName VAR_053764 VAR_053764 disease not phenotype-associated VAR_053765 commonName VAR_053765 VAR_053765 disease not phenotype-associated VAR_053766 commonName VAR_053766 VAR_053766 disease not phenotype-associated VAR_053767 commonName VAR_053767 VAR_053767 disease not phenotype-associated VAR_053768 commonName VAR_053768 VAR_053768 disease not phenotype-associated VAR_053769 commonName VAR_053769 VAR_053769 disease not phenotype-associated VAR_053770 commonName VAR_053770 VAR_053770 disease not phenotype-associated VAR_053771 commonName VAR_053771 VAR_053771 disease not phenotype-associated VAR_053773 commonName VAR_053773 VAR_053773 disease not phenotype-associated VAR_053774 commonName VAR_053774 VAR_053774 disease not phenotype-associated VAR_053775 commonName VAR_053775 VAR_053775 disease not phenotype-associated VAR_053776 commonName VAR_053776 VAR_053776 disease not phenotype-associated VAR_053777 commonName VAR_053777 VAR_053777 disease not phenotype-associated VAR_053778 commonName VAR_053778 VAR_053778 disease not phenotype-associated VAR_053779 commonName VAR_053779 VAR_053779 disease not phenotype-associated VAR_053780 commonName VAR_053780 VAR_053780 disease not phenotype-associated VAR_053781 commonName VAR_053781 VAR_053781 disease not phenotype-associated VAR_053782 commonName VAR_053782 VAR_053782 disease not phenotype-associated VAR_053783 commonName VAR_053783 VAR_053783 disease not phenotype-associated VAR_053784 commonName VAR_053784 VAR_053784 disease not phenotype-associated VAR_053785 commonName VAR_053785 VAR_053785 disease not phenotype-associated VAR_053787 commonName VAR_053787 VAR_053787 disease not phenotype-associated VAR_053788 commonName VAR_053788 VAR_053788 disease not phenotype-associated VAR_053789 commonName VAR_053789 VAR_053789 disease not phenotype-associated VAR_053790 commonName VAR_053790 VAR_053790 disease not phenotype-associated VAR_053792 commonName VAR_053792 VAR_053792 disease not phenotype-associated VAR_053793 commonName VAR_053793 VAR_053793 disease not phenotype-associated VAR_053794 commonName VAR_053794 VAR_053794 disease not phenotype-associated VAR_053795 commonName VAR_053795 VAR_053795 disease not phenotype-associated VAR_053796 commonName VAR_053796 VAR_053796 disease not phenotype-associated VAR_053797 commonName VAR_053797 VAR_053797 disease not phenotype-associated VAR_053798 commonName VAR_053798 VAR_053798 disease not phenotype-associated VAR_053799 commonName VAR_053799 VAR_053799 disease not phenotype-associated VAR_053800 commonName VAR_053800 VAR_053800 disease not phenotype-associated VAR_053801 commonName VAR_053801 VAR_053801 disease not phenotype-associated VAR_053802 commonName VAR_053802 VAR_053802 disease not phenotype-associated VAR_053803 commonName VAR_053803 VAR_053803 disease not phenotype-associated VAR_053804 commonName VAR_053804 VAR_053804 disease not phenotype-associated VAR_053805 commonName VAR_053805 VAR_053805 disease not phenotype-associated VAR_053806 commonName VAR_053806 VAR_053806 disease not phenotype-associated VAR_053807 commonName VAR_053807 VAR_053807 disease not phenotype-associated VAR_053808 commonName VAR_053808 VAR_053808 disease not phenotype-associated VAR_053809 commonName VAR_053809 VAR_053809 disease not phenotype-associated VAR_053810 commonName VAR_053810 VAR_053810 disease not phenotype-associated VAR_053811 commonName VAR_053811 VAR_053811 disease not phenotype-associated VAR_053812 commonName VAR_053812 VAR_053812 disease not phenotype-associated VAR_053813 commonName VAR_053813 VAR_053813 disease not phenotype-associated VAR_053814 commonName VAR_053814 VAR_053814 disease not phenotype-associated VAR_053815 commonName VAR_053815 VAR_053815 disease not phenotype-associated VAR_053816 commonName VAR_053816 VAR_053816 disease not phenotype-associated VAR_053817 commonName VAR_053817 VAR_053817 disease not phenotype-associated VAR_053818 commonName VAR_053818 VAR_053818 disease not phenotype-associated VAR_053819 commonName VAR_053819 VAR_053819 disease not phenotype-associated VAR_053820 commonName VAR_053820 VAR_053820 disease not phenotype-associated VAR_053821 commonName VAR_053821 VAR_053821 disease not phenotype-associated VAR_053822 commonName VAR_053822 VAR_053822 disease not phenotype-associated VAR_053823 commonName VAR_053823 VAR_053823 disease not phenotype-associated VAR_053825 commonName VAR_053825 VAR_053825 disease not phenotype-associated VAR_053826 commonName VAR_053826 VAR_053826 disease not phenotype-associated VAR_053827 commonName VAR_053827 VAR_053827 disease not phenotype-associated VAR_053828 commonName VAR_053828 VAR_053828 disease not phenotype-associated VAR_053829 commonName VAR_053829 VAR_053829 disease not phenotype-associated VAR_053831 commonName VAR_053831 VAR_053831 disease not phenotype-associated VAR_053833 commonName VAR_053833 VAR_053833 disease not phenotype-associated VAR_053834 commonName VAR_053834 VAR_053834 disease not phenotype-associated VAR_053835 commonName VAR_053835 VAR_053835 disease not phenotype-associated VAR_053836 commonName VAR_053836 VAR_053836 disease not phenotype-associated VAR_053837 commonName VAR_053837 VAR_053837 disease not phenotype-associated VAR_053840 commonName VAR_053840 VAR_053840 disease not phenotype-associated VAR_053841 commonName VAR_053841 VAR_053841 disease not phenotype-associated VAR_053842 commonName VAR_053842 VAR_053842 disease not phenotype-associated VAR_053843 commonName VAR_053843 VAR_053843 disease not phenotype-associated VAR_053844 commonName VAR_053844 VAR_053844 disease not phenotype-associated VAR_053845 commonName VAR_053845 VAR_053845 disease not phenotype-associated VAR_053846 commonName VAR_053846 VAR_053846 disease not phenotype-associated VAR_053847 commonName VAR_053847 VAR_053847 disease not phenotype-associated VAR_053848 commonName VAR_053848 VAR_053848 disease not phenotype-associated VAR_053849 commonName VAR_053849 VAR_053849 disease not phenotype-associated VAR_053850 commonName VAR_053850 VAR_053850 disease not phenotype-associated VAR_053851 commonName VAR_053851 VAR_053851 disease not phenotype-associated VAR_053853 commonName VAR_053853 VAR_053853 disease not phenotype-associated VAR_053854 commonName VAR_053854 VAR_053854 disease not phenotype-associated VAR_053855 commonName VAR_053855 VAR_053855 disease not phenotype-associated VAR_053856 commonName VAR_053856 VAR_053856 disease not phenotype-associated VAR_053857 commonName VAR_053857 VAR_053857 disease not phenotype-associated VAR_053858 commonName VAR_053858 VAR_053858 disease not phenotype-associated VAR_053859 commonName VAR_053859 VAR_053859 disease not phenotype-associated VAR_053860 commonName VAR_053860 VAR_053860 disease not phenotype-associated VAR_053861 commonName VAR_053861 VAR_053861 disease not phenotype-associated VAR_053862 commonName VAR_053862 VAR_053862 disease not phenotype-associated VAR_053863 commonName VAR_053863 VAR_053863 disease not phenotype-associated VAR_053864 commonName VAR_053864 VAR_053864 disease not phenotype-associated VAR_053865 commonName VAR_053865 VAR_053865 disease not phenotype-associated VAR_053866 commonName VAR_053866 VAR_053866 disease not phenotype-associated VAR_053867 commonName VAR_053867 VAR_053867 disease not phenotype-associated VAR_053868 commonName VAR_053868 VAR_053868 disease not phenotype-associated VAR_053869 commonName VAR_053869 VAR_053869 disease not phenotype-associated VAR_053870 commonName VAR_053870 VAR_053870 disease not phenotype-associated VAR_053871 commonName VAR_053871 VAR_053871 disease not phenotype-associated VAR_053872 commonName VAR_053872 VAR_053872 disease not phenotype-associated VAR_053873 commonName VAR_053873 VAR_053873 disease not phenotype-associated VAR_053875 commonName VAR_053875 VAR_053875 disease not phenotype-associated VAR_053876 commonName VAR_053876 VAR_053876 disease not phenotype-associated VAR_053877 commonName VAR_053877 VAR_053877 disease not phenotype-associated VAR_053878 commonName VAR_053878 VAR_053878 disease not phenotype-associated VAR_053879 commonName VAR_053879 VAR_053879 disease not phenotype-associated VAR_053880 commonName VAR_053880 VAR_053880 disease not phenotype-associated VAR_053881 commonName VAR_053881 VAR_053881 disease not phenotype-associated VAR_053882 commonName VAR_053882 VAR_053882 disease not phenotype-associated VAR_053885 commonName VAR_053885 VAR_053885 disease not phenotype-associated VAR_053886 commonName VAR_053886 VAR_053886 disease not phenotype-associated VAR_053887 commonName VAR_053887 VAR_053887 disease not phenotype-associated VAR_053888 commonName VAR_053888 VAR_053888 disease not phenotype-associated VAR_053889 commonName VAR_053889 VAR_053889 disease not phenotype-associated VAR_053890 commonName VAR_053890 VAR_053890 disease not phenotype-associated VAR_053891 commonName VAR_053891 VAR_053891 disease not phenotype-associated VAR_053892 commonName VAR_053892 VAR_053892 disease not phenotype-associated VAR_053893 commonName VAR_053893 VAR_053893 disease not phenotype-associated VAR_053894 commonName VAR_053894 VAR_053894 disease not phenotype-associated VAR_053895 commonName VAR_053895 VAR_053895 disease not phenotype-associated VAR_053896 commonName VAR_053896 VAR_053896 disease not phenotype-associated VAR_053897 commonName VAR_053897 VAR_053897 disease not phenotype-associated VAR_053898 commonName VAR_053898 VAR_053898 disease not phenotype-associated VAR_053899 commonName VAR_053899 VAR_053899 disease not phenotype-associated VAR_053900 commonName VAR_053900 VAR_053900 disease not phenotype-associated VAR_053901 commonName VAR_053901 VAR_053901 disease not phenotype-associated VAR_053902 commonName VAR_053902 VAR_053902 disease not phenotype-associated VAR_053903 commonName VAR_053903 VAR_053903 disease not phenotype-associated VAR_053904 commonName VAR_053904 VAR_053904 disease not phenotype-associated VAR_053905 commonName VAR_053905 VAR_053905 disease not phenotype-associated VAR_053907 commonName VAR_053907 VAR_053907 disease not phenotype-associated VAR_053908 commonName VAR_053908 VAR_053908 disease not phenotype-associated VAR_053909 commonName VAR_053909 VAR_053909 disease not phenotype-associated VAR_053910 commonName VAR_053910 VAR_053910 disease not phenotype-associated VAR_053911 commonName VAR_053911 VAR_053911 disease not phenotype-associated VAR_053913 commonName VAR_053913 VAR_053913 disease not phenotype-associated VAR_053914 commonName VAR_053914 VAR_053914 disease not phenotype-associated VAR_053915 commonName VAR_053915 VAR_053915 disease not phenotype-associated VAR_053916 commonName VAR_053916 VAR_053916 disease not phenotype-associated VAR_053917 commonName VAR_053917 VAR_053917 disease not phenotype-associated VAR_053918 commonName VAR_053918 VAR_053918 disease not phenotype-associated VAR_053919 commonName VAR_053919 VAR_053919 disease not phenotype-associated VAR_053921 commonName VAR_053921 VAR_053921 disease not phenotype-associated VAR_053922 commonName VAR_053922 VAR_053922 disease not phenotype-associated VAR_053923 commonName VAR_053923 VAR_053923 disease not phenotype-associated VAR_053924 commonName VAR_053924 VAR_053924 disease not phenotype-associated VAR_053925 commonName VAR_053925 VAR_053925 disease not phenotype-associated VAR_053926 commonName VAR_053926 VAR_053926 disease not phenotype-associated VAR_053927 commonName VAR_053927 VAR_053927 disease not phenotype-associated VAR_053928 commonName VAR_053928 VAR_053928 disease not phenotype-associated VAR_053929 commonName VAR_053929 VAR_053929 disease not phenotype-associated VAR_053930 commonName VAR_053930 VAR_053930 disease not phenotype-associated VAR_053931 commonName VAR_053931 VAR_053931 disease not phenotype-associated VAR_053932 commonName VAR_053932 VAR_053932 disease not phenotype-associated VAR_053933 commonName VAR_053933 VAR_053933 disease not phenotype-associated VAR_053934 commonName VAR_053934 VAR_053934 disease not phenotype-associated VAR_053935 commonName VAR_053935 VAR_053935 disease not phenotype-associated VAR_053936 commonName VAR_053936 VAR_053936 disease not phenotype-associated VAR_053937 commonName VAR_053937 VAR_053937 disease not phenotype-associated VAR_053938 commonName VAR_053938 VAR_053938 disease not phenotype-associated VAR_053939 commonName VAR_053939 VAR_053939 disease not phenotype-associated VAR_053940 commonName VAR_053940 VAR_053940 disease not phenotype-associated VAR_053941 commonName VAR_053941 VAR_053941 disease not phenotype-associated VAR_053942 commonName VAR_053942 VAR_053942 disease not phenotype-associated VAR_053943 commonName VAR_053943 VAR_053943 disease not phenotype-associated VAR_053944 commonName VAR_053944 VAR_053944 disease not phenotype-associated VAR_053945 commonName VAR_053945 VAR_053945 disease not phenotype-associated VAR_053946 commonName VAR_053946 VAR_053946 disease not phenotype-associated VAR_053947 commonName VAR_053947 VAR_053947 disease not phenotype-associated VAR_053948 commonName VAR_053948 VAR_053948 disease not phenotype-associated VAR_053949 commonName VAR_053949 VAR_053949 disease not phenotype-associated VAR_053950 commonName VAR_053950 VAR_053950 disease not phenotype-associated VAR_053951 commonName VAR_053951 VAR_053951 disease not phenotype-associated VAR_053953 commonName VAR_053953 VAR_053953 disease not phenotype-associated VAR_053954 commonName VAR_053954 VAR_053954 disease not phenotype-associated VAR_053955 commonName VAR_053955 VAR_053955 disease not phenotype-associated VAR_053956 commonName VAR_053956 VAR_053956 disease not phenotype-associated VAR_053957 commonName VAR_053957 VAR_053957 disease not phenotype-associated VAR_053958 commonName VAR_053958 VAR_053958 disease not phenotype-associated VAR_053959 commonName VAR_053959 VAR_053959 disease not phenotype-associated VAR_053961 commonName VAR_053961 VAR_053961 disease not phenotype-associated VAR_053962 commonName VAR_053962 VAR_053962 disease not phenotype-associated VAR_053963 commonName VAR_053963 VAR_053963 disease not phenotype-associated VAR_053964 commonName VAR_053964 VAR_053964 disease not phenotype-associated VAR_053965 commonName VAR_053965 VAR_053965 disease not phenotype-associated VAR_053966 commonName VAR_053966 VAR_053966 disease not phenotype-associated VAR_053967 commonName VAR_053967 VAR_053967 disease not phenotype-associated VAR_053968 commonName VAR_053968 VAR_053968 disease not phenotype-associated VAR_053969 commonName VAR_053969 VAR_053969 disease not phenotype-associated VAR_053970 commonName VAR_053970 VAR_053970 disease not phenotype-associated VAR_053971 commonName VAR_053971 VAR_053971 disease not phenotype-associated VAR_053972 commonName VAR_053972 VAR_053972 disease not phenotype-associated VAR_053973 commonName VAR_053973 VAR_053973 disease not phenotype-associated VAR_053974 commonName VAR_053974 VAR_053974 disease not phenotype-associated VAR_053975 commonName VAR_053975 VAR_053975 disease not phenotype-associated VAR_053976 commonName VAR_053976 VAR_053976 disease not phenotype-associated VAR_053977 commonName VAR_053977 VAR_053977 disease not phenotype-associated VAR_053979 commonName VAR_053979 VAR_053979 disease not phenotype-associated VAR_053980 commonName VAR_053980 VAR_053980 disease not phenotype-associated VAR_053981 commonName VAR_053981 VAR_053981 disease not phenotype-associated VAR_053982 commonName VAR_053982 VAR_053982 disease not phenotype-associated VAR_053983 commonName VAR_053983 VAR_053983 disease not phenotype-associated VAR_053984 commonName VAR_053984 VAR_053984 disease not phenotype-associated VAR_053985 commonName VAR_053985 VAR_053985 disease not phenotype-associated VAR_053986 commonName VAR_053986 VAR_053986 disease not phenotype-associated VAR_053987 commonName VAR_053987 VAR_053987 disease not phenotype-associated VAR_053988 commonName VAR_053988 VAR_053988 disease not phenotype-associated VAR_053989 commonName VAR_053989 VAR_053989 disease not phenotype-associated VAR_053990 commonName VAR_053990 VAR_053990 disease not phenotype-associated VAR_053991 commonName VAR_053991 VAR_053991 disease not phenotype-associated VAR_053992 commonName VAR_053992 VAR_053992 disease not phenotype-associated VAR_053993 commonName VAR_053993 VAR_053993 disease not phenotype-associated VAR_053994 commonName VAR_053994 VAR_053994 disease not phenotype-associated VAR_053995 commonName VAR_053995 VAR_053995 disease not phenotype-associated VAR_053996 commonName VAR_053996 VAR_053996 disease not phenotype-associated VAR_053997 commonName VAR_053997 VAR_053997 disease not phenotype-associated VAR_053998 commonName VAR_053998 VAR_053998 disease not phenotype-associated VAR_053999 commonName VAR_053999 VAR_053999 disease not phenotype-associated VAR_054000 commonName VAR_054000 VAR_054000 disease not phenotype-associated VAR_054001 commonName VAR_054001 VAR_054001 disease not phenotype-associated VAR_054002 commonName VAR_054002 VAR_054002 disease not phenotype-associated VAR_054003 commonName VAR_054003 VAR_054003 disease not phenotype-associated VAR_054004 commonName VAR_054004 VAR_054004 disease not phenotype-associated VAR_054005 commonName VAR_054005 VAR_054005 disease not phenotype-associated VAR_054006 commonName VAR_054006 VAR_054006 disease not phenotype-associated VAR_054008 commonName VAR_054008 VAR_054008 disease not phenotype-associated VAR_054009 commonName VAR_054009 VAR_054009 disease not phenotype-associated VAR_054010 commonName VAR_054010 VAR_054010 disease not phenotype-associated VAR_054011 commonName VAR_054011 VAR_054011 disease not phenotype-associated VAR_054012 commonName VAR_054012 VAR_054012 disease not phenotype-associated VAR_054013 commonName VAR_054013 VAR_054013 disease not phenotype-associated VAR_054014 commonName VAR_054014 VAR_054014 disease not phenotype-associated VAR_054016 commonName VAR_054016 VAR_054016 disease not phenotype-associated VAR_054017 commonName VAR_054017 VAR_054017 disease not phenotype-associated VAR_054018 commonName VAR_054018 VAR_054018 disease not phenotype-associated VAR_054019 commonName VAR_054019 VAR_054019 disease not phenotype-associated VAR_054020 commonName VAR_054020 VAR_054020 disease not phenotype-associated VAR_054021 commonName VAR_054021 VAR_054021 disease not phenotype-associated VAR_054022 commonName VAR_054022 VAR_054022 disease not phenotype-associated VAR_054023 commonName VAR_054023 VAR_054023 disease not phenotype-associated VAR_054024 commonName VAR_054024 VAR_054024 disease not phenotype-associated VAR_054025 commonName VAR_054025 VAR_054025 disease not phenotype-associated VAR_054026 commonName VAR_054026 VAR_054026 disease not phenotype-associated VAR_054027 commonName VAR_054027 VAR_054027 disease not phenotype-associated VAR_054028 commonName VAR_054028 VAR_054028 disease not phenotype-associated VAR_054029 commonName VAR_054029 VAR_054029 disease not phenotype-associated VAR_054030 commonName VAR_054030 VAR_054030 disease not phenotype-associated VAR_054032 commonName VAR_054032 VAR_054032 disease not phenotype-associated VAR_054033 commonName VAR_054033 VAR_054033 disease not phenotype-associated VAR_054034 commonName VAR_054034 VAR_054034 disease not phenotype-associated VAR_054035 commonName VAR_054035 VAR_054035 disease not phenotype-associated VAR_054036 commonName VAR_054036 VAR_054036 disease not phenotype-associated VAR_054037 commonName VAR_054037 VAR_054037 disease not phenotype-associated VAR_054038 commonName VAR_054038 VAR_054038 disease not phenotype-associated VAR_054039 commonName VAR_054039 VAR_054039 disease not phenotype-associated VAR_054040 commonName VAR_054040 VAR_054040 disease not phenotype-associated VAR_054041 commonName VAR_054041 VAR_054041 disease not phenotype-associated VAR_054042 commonName VAR_054042 VAR_054042 disease not phenotype-associated VAR_054043 commonName VAR_054043 VAR_054043 disease not phenotype-associated VAR_054044 commonName VAR_054044 VAR_054044 disease not phenotype-associated VAR_054045 commonName VAR_054045 VAR_054045 disease not phenotype-associated VAR_054047 commonName VAR_054047 VAR_054047 disease not phenotype-associated VAR_054048 commonName VAR_054048 VAR_054048 disease not phenotype-associated VAR_054049 commonName VAR_054049 VAR_054049 disease not phenotype-associated VAR_054050 commonName VAR_054050 VAR_054050 disease not phenotype-associated VAR_054051 commonName VAR_054051 VAR_054051 disease not phenotype-associated VAR_054052 commonName VAR_054052 VAR_054052 disease not phenotype-associated VAR_054053 commonName VAR_054053 VAR_054053 disease not phenotype-associated VAR_054056 commonName VAR_054056 VAR_054056 disease not phenotype-associated VAR_054057 commonName VAR_054057 VAR_054057 disease not phenotype-associated VAR_054058 commonName VAR_054058 VAR_054058 disease not phenotype-associated VAR_054059 commonName VAR_054059 VAR_054059 disease not phenotype-associated VAR_054060 commonName VAR_054060 VAR_054060 disease not phenotype-associated VAR_054061 commonName VAR_054061 VAR_054061 disease not phenotype-associated VAR_054063 commonName VAR_054063 VAR_054063 disease not phenotype-associated VAR_054064 commonName VAR_054064 VAR_054064 disease not phenotype-associated VAR_054065 commonName VAR_054065 VAR_054065 disease not phenotype-associated VAR_054066 commonName VAR_054066 VAR_054066 disease not phenotype-associated VAR_054067 commonName VAR_054067 VAR_054067 disease not phenotype-associated VAR_054068 commonName VAR_054068 VAR_054068 disease not phenotype-associated VAR_054069 commonName VAR_054069 VAR_054069 disease not phenotype-associated VAR_054070 commonName VAR_054070 VAR_054070 disease not phenotype-associated VAR_054071 commonName VAR_054071 VAR_054071 disease not phenotype-associated VAR_054078 commonName VAR_054078 VAR_054078 disease not phenotype-associated VAR_054079 commonName VAR_054079 VAR_054079 disease not phenotype-associated VAR_054080 commonName VAR_054080 VAR_054080 disease not phenotype-associated VAR_054081 commonName VAR_054081 VAR_054081 disease not phenotype-associated VAR_054082 commonName VAR_054082 VAR_054082 disease not phenotype-associated VAR_054083 commonName VAR_054083 VAR_054083 disease not phenotype-associated VAR_054084 commonName VAR_054084 VAR_054084 disease not phenotype-associated VAR_054085 commonName VAR_054085 VAR_054085 disease not phenotype-associated VAR_054086 commonName VAR_054086 VAR_054086 disease not phenotype-associated VAR_054087 commonName VAR_054087 VAR_054087 disease not phenotype-associated VAR_054088 commonName VAR_054088 VAR_054088 disease not phenotype-associated VAR_054089 commonName VAR_054089 VAR_054089 disease not phenotype-associated VAR_054090 commonName VAR_054090 VAR_054090 disease not phenotype-associated VAR_054091 commonName VAR_054091 VAR_054091 disease not phenotype-associated VAR_054092 commonName VAR_054092 VAR_054092 disease not phenotype-associated VAR_054093 commonName VAR_054093 VAR_054093 disease not phenotype-associated VAR_054094 commonName VAR_054094 VAR_054094 disease not phenotype-associated VAR_054095 commonName VAR_054095 VAR_054095 disease not phenotype-associated VAR_054098 commonName VAR_054098 VAR_054098 disease not phenotype-associated VAR_054099 commonName VAR_054099 VAR_054099 disease not phenotype-associated VAR_054101 commonName VAR_054101 VAR_054101 disease not phenotype-associated VAR_054102 commonName VAR_054102 VAR_054102 disease not phenotype-associated VAR_054103 commonName VAR_054103 VAR_054103 disease not phenotype-associated VAR_054104 commonName VAR_054104 VAR_054104 disease not phenotype-associated VAR_054105 commonName VAR_054105 VAR_054105 disease not phenotype-associated VAR_054106 commonName VAR_054106 VAR_054106 disease not phenotype-associated VAR_054107 commonName VAR_054107 VAR_054107 disease not phenotype-associated VAR_054108 commonName VAR_054108 VAR_054108 disease not phenotype-associated VAR_054109 commonName VAR_054109 VAR_054109 disease not phenotype-associated VAR_054110 commonName VAR_054110 VAR_054110 disease not phenotype-associated VAR_054111 commonName VAR_054111 VAR_054111 disease not phenotype-associated VAR_054112 commonName VAR_054112 VAR_054112 disease phenotype-associated VAR_054112 phenoCommon Dystonia type 5 (DYT5) [MIM:128230] VAR_054113 commonName VAR_054113 VAR_054113 disease phenotype-associated VAR_054113 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850] VAR_054114 commonName VAR_054114 VAR_054114 disease phenotype-associated VAR_054114 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850] VAR_054115 commonName VAR_054115 VAR_054115 disease phenotype-associated VAR_054115 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850] VAR_054116 commonName VAR_054116 VAR_054116 disease phenotype-associated VAR_054116 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850] VAR_054117 commonName VAR_054117 VAR_054117 disease phenotype-associated VAR_054117 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850] VAR_054118 commonName VAR_054118 VAR_054118 disease phenotype-associated VAR_054118 phenoCommon Giant axonal neuropathy (GAN) [MIM:256850] VAR_054119 commonName VAR_054119 VAR_054119 disease phenotype-associated VAR_054119 phenoCommon Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] VAR_054120 commonName VAR_054120 VAR_054120 disease phenotype-associated VAR_054120 phenoCommon Ichthyosis congenital autosomal recessive ichthyin-related (ARCII) [MIM:612281] VAR_054121 commonName VAR_054121 VAR_054121 disease not phenotype-associated VAR_054122 commonName VAR_054122 VAR_054122 disease not phenotype-associated VAR_054123 commonName VAR_054123 VAR_054123 disease not phenotype-associated VAR_054124 commonName VAR_054124 VAR_054124 disease not phenotype-associated VAR_054125 commonName VAR_054125 VAR_054125 disease not phenotype-associated VAR_054126 commonName VAR_054126 VAR_054126 disease not phenotype-associated VAR_054128 commonName VAR_054128 VAR_054128 disease not phenotype-associated VAR_054129 commonName VAR_054129 VAR_054129 disease not phenotype-associated VAR_054130 commonName VAR_054130 VAR_054130 disease phenotype-associated VAR_054130 phenoCommon Deafness autosomal dominant type 25 (DFNA25) [MIM:605583] VAR_054131 commonName VAR_054131 VAR_054131 disease not phenotype-associated VAR_054132 commonName VAR_054132 VAR_054132 disease not phenotype-associated VAR_054133 commonName VAR_054133 VAR_054133 disease not phenotype-associated VAR_054134 commonName VAR_054134 VAR_054134 disease not phenotype-associated VAR_054135 commonName VAR_054135 VAR_054135 disease not phenotype-associated VAR_054136 commonName VAR_054136 VAR_054136 disease not phenotype-associated VAR_054137 commonName VAR_054137 VAR_054137 disease not phenotype-associated VAR_054138 commonName VAR_054138 VAR_054138 disease not phenotype-associated VAR_054144 comment An acute myeloid leukemia sample VAR_054144 commonName VAR_054144 VAR_054147 comment An acute myeloid leukemia sample VAR_054147 commonName VAR_054147 VAR_054148 comment An acute myeloid leukemia sample VAR_054148 commonName VAR_054148 VAR_054149 commonName VAR_054149 VAR_054149 disease not phenotype-associated VAR_054150 commonName VAR_054150 VAR_054150 disease not phenotype-associated VAR_054151 commonName VAR_054151 VAR_054151 disease not phenotype-associated VAR_054152 commonName VAR_054152 VAR_054152 disease not phenotype-associated VAR_054153 commonName VAR_054153 VAR_054153 disease not phenotype-associated VAR_054154 commonName VAR_054154 VAR_054154 disease not phenotype-associated VAR_054157 commonName VAR_054157 VAR_054157 disease not phenotype-associated VAR_054158 commonName VAR_054158 VAR_054158 disease not phenotype-associated VAR_054159 commonName VAR_054159 VAR_054159 disease not phenotype-associated VAR_054160 commonName VAR_054160 VAR_054160 disease not phenotype-associated VAR_054161 commonName VAR_054161 VAR_054161 disease not phenotype-associated VAR_054163 commonName VAR_054163 VAR_054163 disease not phenotype-associated VAR_054164 commonName VAR_054164 VAR_054164 disease phenotype-associated VAR_054164 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054165 commonName VAR_054165 VAR_054165 disease phenotype-associated VAR_054165 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054166 commonName VAR_054166 VAR_054166 disease phenotype-associated VAR_054166 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054167 commonName VAR_054167 VAR_054167 disease phenotype-associated VAR_054167 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054168 commonName VAR_054168 VAR_054168 disease phenotype-associated VAR_054168 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054169 commonName VAR_054169 VAR_054169 disease phenotype-associated VAR_054169 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054170 commonName VAR_054170 VAR_054170 disease phenotype-associated VAR_054170 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054171 commonName VAR_054171 VAR_054171 disease phenotype-associated VAR_054171 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054172 commonName VAR_054172 VAR_054172 disease phenotype-associated VAR_054172 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054174 commonName VAR_054174 VAR_054174 disease phenotype-associated VAR_054174 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054175 commonName VAR_054175 VAR_054175 disease phenotype-associated VAR_054175 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054176 commonName VAR_054176 VAR_054176 disease phenotype-associated VAR_054176 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054177 commonName VAR_054177 VAR_054177 disease phenotype-associated VAR_054177 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054178 commonName VAR_054178 VAR_054178 disease phenotype-associated VAR_054178 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054179 commonName VAR_054179 VAR_054179 disease phenotype-associated VAR_054179 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054180 commonName VAR_054180 VAR_054180 disease phenotype-associated VAR_054180 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054181 commonName VAR_054181 VAR_054181 disease phenotype-associated VAR_054181 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054182 commonName VAR_054182 VAR_054182 disease phenotype-associated VAR_054182 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054183 commonName VAR_054183 VAR_054183 disease phenotype-associated VAR_054183 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054184 commonName VAR_054184 VAR_054184 disease phenotype-associated VAR_054184 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054185 commonName VAR_054185 VAR_054185 disease phenotype-associated VAR_054185 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054186 commonName VAR_054186 VAR_054186 disease phenotype-associated VAR_054186 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054187 commonName VAR_054187 VAR_054187 disease phenotype-associated VAR_054187 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054188 commonName VAR_054188 VAR_054188 disease phenotype-associated VAR_054188 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054189 commonName VAR_054189 VAR_054189 disease phenotype-associated VAR_054189 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054190 commonName VAR_054190 VAR_054190 disease phenotype-associated VAR_054190 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054191 commonName VAR_054191 VAR_054191 disease phenotype-associated VAR_054191 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054192 commonName VAR_054192 VAR_054192 disease phenotype-associated VAR_054192 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054193 commonName VAR_054193 VAR_054193 disease phenotype-associated VAR_054193 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054194 commonName VAR_054194 VAR_054194 disease phenotype-associated VAR_054194 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054195 commonName VAR_054195 VAR_054195 disease phenotype-associated VAR_054195 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054196 commonName VAR_054196 VAR_054196 disease phenotype-associated VAR_054196 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054197 commonName VAR_054197 VAR_054197 disease phenotype-associated VAR_054197 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054198 commonName VAR_054198 VAR_054198 disease phenotype-associated VAR_054198 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054199 commonName VAR_054199 VAR_054199 disease phenotype-associated VAR_054199 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054200 commonName VAR_054200 VAR_054200 disease phenotype-associated VAR_054200 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054201 commonName VAR_054201 VAR_054201 disease phenotype-associated VAR_054201 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054202 commonName VAR_054202 VAR_054202 disease phenotype-associated VAR_054202 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054203 commonName VAR_054203 VAR_054203 disease phenotype-associated VAR_054203 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054204 commonName VAR_054204 VAR_054204 disease phenotype-associated VAR_054204 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054205 commonName VAR_054205 VAR_054205 disease phenotype-associated VAR_054205 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054206 commonName VAR_054206 VAR_054206 disease phenotype-associated VAR_054206 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054207 commonName VAR_054207 VAR_054207 disease phenotype-associated VAR_054207 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_054212 commonName VAR_054212 VAR_054212 disease not phenotype-associated VAR_054213 commonName VAR_054213 VAR_054213 disease not phenotype-associated VAR_054215 commonName VAR_054215 VAR_054215 disease not phenotype-associated VAR_054216 commonName VAR_054216 VAR_054216 disease not phenotype-associated VAR_054219 commonName VAR_054219 VAR_054219 disease not phenotype-associated VAR_054220 commonName VAR_054220 VAR_054220 disease not phenotype-associated VAR_054221 commonName VAR_054221 VAR_054221 disease not phenotype-associated VAR_054222 commonName VAR_054222 VAR_054222 disease not phenotype-associated VAR_054223 commonName VAR_054223 VAR_054223 disease not phenotype-associated VAR_054224 commonName VAR_054224 VAR_054224 disease not phenotype-associated VAR_054225 commonName VAR_054225 VAR_054225 disease not phenotype-associated VAR_054226 commonName VAR_054226 VAR_054226 disease not phenotype-associated VAR_054227 commonName VAR_054227 VAR_054227 disease phenotype-associated VAR_054227 phenoCommon Primary open angle glaucoma (POAG) [MIM:137760] VAR_054228 commonName VAR_054228 VAR_054228 disease not phenotype-associated VAR_054229 commonName VAR_054229 VAR_054229 disease phenotype-associated VAR_054229 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_054230 commonName VAR_054230 VAR_054230 disease phenotype-associated VAR_054230 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_054231 commonName VAR_054231 VAR_054231 disease phenotype-associated VAR_054231 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_054232 commonName VAR_054232 VAR_054232 disease not phenotype-associated VAR_054233 commonName VAR_054233 VAR_054233 disease phenotype-associated VAR_054233 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_054234 commonName VAR_054234 VAR_054234 disease phenotype-associated VAR_054234 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_054235 commonName VAR_054235 VAR_054235 disease phenotype-associated VAR_054235 phenoCommon Primary open angle glaucoma (POAG) [MIM:137760] VAR_054236 commonName VAR_054236 VAR_054236 disease not phenotype-associated VAR_054237 commonName VAR_054237 VAR_054238 commonName VAR_054238 VAR_054238 disease phenotype-associated VAR_054238 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_054239 commonName VAR_054239 VAR_054239 disease phenotype-associated VAR_054239 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_054240 commonName VAR_054240 VAR_054240 disease phenotype-associated VAR_054240 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_054241 commonName VAR_054241 VAR_054241 disease phenotype-associated VAR_054241 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_054242 commonName VAR_054242 VAR_054242 disease phenotype-associated VAR_054242 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_054243 commonName VAR_054243 VAR_054243 disease phenotype-associated VAR_054243 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_054243 phenoCommon Primary open angle glaucoma (POAG) [MIM:137760] VAR_054244 commonName VAR_054244 VAR_054244 disease phenotype-associated VAR_054244 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_054244 phenoCommon Primary open angle glaucoma (POAG) [MIM:137760] VAR_054245 commonName VAR_054245 VAR_054245 disease phenotype-associated VAR_054245 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_054247 commonName VAR_054247 VAR_054247 disease phenotype-associated VAR_054247 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_054248 commonName VAR_054248 VAR_054248 disease phenotype-associated VAR_054248 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_054249 commonName VAR_054249 VAR_054251 commonName VAR_054251 VAR_054251 disease phenotype-associated VAR_054251 phenoCommon Primary open angle glaucoma (POAG) [MIM:137760] VAR_054253 commonName VAR_054253 VAR_054253 disease phenotype-associated VAR_054253 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_054254 commonName VAR_054254 VAR_054254 disease phenotype-associated VAR_054254 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_054255 commonName VAR_054255 VAR_054255 disease phenotype-associated VAR_054255 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_054256 commonName VAR_054256 VAR_054256 disease phenotype-associated VAR_054256 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_054257 commonName VAR_054257 VAR_054257 disease phenotype-associated VAR_054257 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_054258 commonName VAR_054258 VAR_054258 disease phenotype-associated VAR_054258 phenoCommon Primary open angle glaucoma (POAG) [MIM:137760] VAR_054259 commonName VAR_054259 VAR_054259 disease not phenotype-associated VAR_054260 commonName VAR_054260 VAR_054260 disease phenotype-associated VAR_054260 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_054260 phenoCommon Primary open angle glaucoma (POAG) [MIM:137760] VAR_054261 commonName VAR_054261 VAR_054261 disease phenotype-associated VAR_054261 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_054262 commonName VAR_054262 VAR_054262 disease phenotype-associated VAR_054262 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_054263 commonName VAR_054263 VAR_054263 disease phenotype-associated VAR_054263 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_054264 commonName VAR_054264 VAR_054264 disease phenotype-associated VAR_054264 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_054265 commonName VAR_054265 VAR_054265 disease phenotype-associated VAR_054265 phenoCommon Primary open angle glaucoma (POAG) [MIM:137760] VAR_054266 commonName VAR_054266 VAR_054266 disease not phenotype-associated VAR_054267 commonName VAR_054267 VAR_054267 disease phenotype-associated VAR_054267 phenoCommon Primary open angle glaucoma (POAG) [MIM:137760] VAR_054268 commonName VAR_054268 VAR_054268 disease phenotype-associated VAR_054268 phenoCommon Primary open angle glaucoma (POAG) [MIM:137760] VAR_054269 commonName VAR_054269 VAR_054269 disease not phenotype-associated VAR_054270 commonName VAR_054270 VAR_054270 disease not phenotype-associated VAR_054271 commonName VAR_054271 VAR_054271 disease phenotype-associated VAR_054271 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_054272 commonName VAR_054272 VAR_054272 disease phenotype-associated VAR_054272 phenoCommon Primary congenital glaucoma type 3A (GLC3A) [MIM:231300] VAR_054272 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_054273 commonName VAR_054273 VAR_054273 disease not phenotype-associated VAR_054274 commonName VAR_054274 VAR_054274 disease not phenotype-associated VAR_054275 commonName VAR_054275 VAR_054275 disease not phenotype-associated VAR_054276 commonName VAR_054276 VAR_054276 disease not phenotype-associated VAR_054277 commonName VAR_054277 VAR_054277 disease phenotype-associated VAR_054277 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_054278 commonName VAR_054278 VAR_054278 disease phenotype-associated VAR_054278 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_054279 commonName VAR_054279 VAR_054279 disease not phenotype-associated VAR_054280 commonName VAR_054280 VAR_054280 disease phenotype-associated VAR_054280 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_054281 commonName VAR_054281 VAR_054281 disease phenotype-associated VAR_054281 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_054282 commonName VAR_054282 VAR_054282 disease phenotype-associated VAR_054282 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_054283 commonName VAR_054283 VAR_054283 disease phenotype-associated VAR_054283 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_054284 commonName VAR_054284 VAR_054284 disease phenotype-associated VAR_054284 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_054285 commonName VAR_054285 VAR_054286 commonName VAR_054286 VAR_054286 disease phenotype-associated VAR_054286 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_054287 commonName VAR_054287 VAR_054287 disease phenotype-associated VAR_054287 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_054288 commonName VAR_054288 VAR_054288 disease phenotype-associated VAR_054288 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_054289 commonName VAR_054289 VAR_054289 disease phenotype-associated VAR_054289 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_054290 commonName VAR_054290 VAR_054290 disease phenotype-associated VAR_054290 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_054291 commonName VAR_054291 VAR_054291 disease phenotype-associated VAR_054291 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_054292 commonName VAR_054292 VAR_054292 disease phenotype-associated VAR_054292 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_054293 commonName VAR_054293 VAR_054293 disease phenotype-associated VAR_054293 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_054294 commonName VAR_054294 VAR_054294 disease phenotype-associated VAR_054294 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_054295 commonName VAR_054295 VAR_054295 disease phenotype-associated VAR_054295 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_054296 commonName VAR_054296 VAR_054296 disease phenotype-associated VAR_054296 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_054297 commonName VAR_054297 VAR_054297 disease phenotype-associated VAR_054297 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_054298 commonName VAR_054298 VAR_054298 disease phenotype-associated VAR_054298 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_054299 commonName VAR_054299 VAR_054299 disease phenotype-associated VAR_054299 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_054300 commonName VAR_054300 VAR_054300 disease phenotype-associated VAR_054300 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_054301 commonName VAR_054301 VAR_054301 disease not phenotype-associated VAR_054302 commonName VAR_054302 VAR_054302 disease phenotype-associated VAR_054302 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_054303 commonName VAR_054303 VAR_054303 disease phenotype-associated VAR_054303 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_054304 commonName VAR_054304 VAR_054304 disease phenotype-associated VAR_054304 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_054305 commonName VAR_054305 VAR_054305 disease phenotype-associated VAR_054305 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_054306 commonName VAR_054306 VAR_054306 disease phenotype-associated VAR_054306 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_054307 commonName VAR_054307 VAR_054307 disease not phenotype-associated VAR_054308 commonName VAR_054308 VAR_054308 disease phenotype-associated VAR_054308 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_054309 commonName VAR_054309 VAR_054309 disease phenotype-associated VAR_054309 phenoCommon Primary open angle glaucoma type 1A (GLC1A) [MIM:137750] VAR_054310 commonName VAR_054310 VAR_054310 disease not phenotype-associated VAR_054311 commonName VAR_054311 VAR_054311 disease not phenotype-associated VAR_054314 commonName VAR_054314 VAR_054314 disease not phenotype-associated VAR_054315 commonName VAR_054315 VAR_054315 disease not phenotype-associated VAR_054316 commonName VAR_054316 VAR_054316 disease not phenotype-associated VAR_054317 commonName VAR_054317 VAR_054317 disease not phenotype-associated VAR_054318 commonName VAR_054318 VAR_054318 disease not phenotype-associated VAR_054319 commonName VAR_054319 VAR_054319 disease not phenotype-associated VAR_054320 commonName VAR_054320 VAR_054320 disease not phenotype-associated VAR_054321 commonName VAR_054321 VAR_054321 disease not phenotype-associated VAR_054322 commonName VAR_054322 VAR_054322 disease not phenotype-associated VAR_054323 commonName VAR_054323 VAR_054323 disease not phenotype-associated VAR_054324 commonName VAR_054324 VAR_054324 disease not phenotype-associated VAR_054325 commonName VAR_054325 VAR_054325 disease not phenotype-associated VAR_054326 commonName VAR_054326 VAR_054326 disease not phenotype-associated VAR_054327 commonName VAR_054327 VAR_054327 disease not phenotype-associated VAR_054328 commonName VAR_054328 VAR_054328 disease not phenotype-associated VAR_054329 commonName VAR_054329 VAR_054329 disease not phenotype-associated VAR_054330 commonName VAR_054330 VAR_054330 disease not phenotype-associated VAR_054331 commonName VAR_054331 VAR_054331 disease not phenotype-associated VAR_054332 commonName VAR_054332 VAR_054332 disease not phenotype-associated VAR_054333 commonName VAR_054333 VAR_054333 disease not phenotype-associated VAR_054334 commonName VAR_054334 VAR_054334 disease not phenotype-associated VAR_054335 commonName VAR_054335 VAR_054335 disease not phenotype-associated VAR_054337 commonName VAR_054337 VAR_054337 disease not phenotype-associated VAR_054339 commonName VAR_054339 VAR_054339 disease not phenotype-associated VAR_054340 commonName VAR_054340 VAR_054340 disease not phenotype-associated VAR_054341 commonName VAR_054341 VAR_054341 disease not phenotype-associated VAR_054342 commonName VAR_054342 VAR_054342 disease not phenotype-associated VAR_054343 commonName VAR_054343 VAR_054343 disease not phenotype-associated VAR_054344 commonName VAR_054344 VAR_054344 disease not phenotype-associated VAR_054345 commonName VAR_054345 VAR_054345 disease not phenotype-associated VAR_054346 commonName VAR_054346 VAR_054346 disease not phenotype-associated VAR_054347 commonName VAR_054347 VAR_054347 disease not phenotype-associated VAR_054348 commonName VAR_054348 VAR_054348 disease not phenotype-associated VAR_054349 commonName VAR_054349 VAR_054349 disease not phenotype-associated VAR_054350 commonName VAR_054350 VAR_054350 disease not phenotype-associated VAR_054351 commonName VAR_054351 VAR_054351 disease not phenotype-associated VAR_054352 commonName VAR_054352 VAR_054352 disease not phenotype-associated VAR_054353 commonName VAR_054353 VAR_054353 disease not phenotype-associated VAR_054354 commonName VAR_054354 VAR_054354 disease not phenotype-associated VAR_054355 commonName VAR_054355 VAR_054355 disease not phenotype-associated VAR_054356 commonName VAR_054356 VAR_054356 disease not phenotype-associated VAR_054357 commonName VAR_054357 VAR_054357 disease not phenotype-associated VAR_054358 commonName VAR_054358 VAR_054358 disease not phenotype-associated VAR_054359 commonName VAR_054359 VAR_054359 disease not phenotype-associated VAR_054360 commonName VAR_054360 VAR_054360 disease not phenotype-associated VAR_054361 commonName VAR_054361 VAR_054361 disease not phenotype-associated VAR_054362 commonName VAR_054362 VAR_054362 disease not phenotype-associated VAR_054363 commonName VAR_054363 VAR_054363 disease not phenotype-associated VAR_054364 commonName VAR_054364 VAR_054364 disease not phenotype-associated VAR_054365 commonName VAR_054365 VAR_054365 disease not phenotype-associated VAR_054366 commonName VAR_054366 VAR_054366 disease not phenotype-associated VAR_054369 commonName VAR_054369 VAR_054369 disease not phenotype-associated VAR_054371 commonName VAR_054371 VAR_054371 disease phenotype-associated VAR_054371 phenoCommon Joubert syndrome type 8 (JBTS8) [MIM:612291] VAR_054372 commonName VAR_054372 VAR_054372 disease phenotype-associated VAR_054372 phenoCommon Joubert syndrome type 8 (JBTS8) [MIM:612291] VAR_054373 commonName VAR_054373 VAR_054373 disease phenotype-associated VAR_054373 phenoCommon Birk-Barel mental retardation dysmorphism syndrome (BIBAS) [MIM:612292] VAR_054374 commonName VAR_054374 VAR_054374 disease not phenotype-associated VAR_054375 commonName VAR_054375 VAR_054375 disease not phenotype-associated VAR_054376 commonName VAR_054376 VAR_054376 disease phenotype-associated VAR_054376 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_054377 commonName VAR_054377 VAR_054377 disease phenotype-associated VAR_054377 phenoCommon Paragangliomas type 4 (PGL4) [MIM:115310] VAR_054377 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_054378 commonName VAR_054378 VAR_054378 disease phenotype-associated VAR_054378 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_054379 commonName VAR_054379 VAR_054379 disease phenotype-associated VAR_054379 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_054380 commonName VAR_054380 VAR_054380 disease phenotype-associated VAR_054380 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_054381 commonName VAR_054381 VAR_054381 disease phenotype-associated VAR_054381 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_054382 commonName VAR_054382 VAR_054382 disease not phenotype-associated VAR_054383 commonName VAR_054383 VAR_054383 disease phenotype-associated VAR_054383 phenoCommon Pheochromocytoma (PCC) [MIM:171300] VAR_054384 commonName VAR_054384 VAR_054385 commonName VAR_054385 VAR_054385 disease phenotype-associated VAR_054385 phenoCommon Paragangliomas type 1 (PGL1) [MIM:168000] VAR_054386 comment A bladder tumor VAR_054386 commonName VAR_054386 VAR_054387 commonName VAR_054387 VAR_054387 disease phenotype-associated VAR_054387 phenoCommon Tuberous sclerosis type 1 (TSC1) [MIM:191100] VAR_054388 comment A bladder tumor VAR_054388 commonName VAR_054388 VAR_054389 comment A bladder tumor VAR_054389 commonName VAR_054389 VAR_054390 comment A bladder tumor VAR_054390 commonName VAR_054390 VAR_054391 commonName VAR_054391 VAR_054391 disease phenotype-associated VAR_054391 phenoCommon Tuberous sclerosis type 1 (TSC1) [MIM:191100] VAR_054392 commonName VAR_054392 VAR_054392 disease not phenotype-associated VAR_054393 commonName VAR_054393 VAR_054393 disease phenotype-associated VAR_054393 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_054396 commonName VAR_054396 VAR_054397 commonName VAR_054397 VAR_054397 disease phenotype-associated VAR_054397 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_054398 commonName VAR_054398 VAR_054398 disease phenotype-associated VAR_054398 phenoCommon Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200] VAR_054400 commonName VAR_054400 VAR_054400 disease not phenotype-associated VAR_054401 commonName VAR_054401 VAR_054409 commonName VAR_054409 VAR_054409 disease not phenotype-associated VAR_054410 commonName VAR_054410 VAR_054410 disease not phenotype-associated VAR_054412 commonName VAR_054412 VAR_054412 disease not phenotype-associated VAR_054413 commonName VAR_054413 VAR_054413 disease not phenotype-associated VAR_054414 commonName VAR_054414 VAR_054414 disease not phenotype-associated VAR_054416 commonName VAR_054416 VAR_054416 disease not phenotype-associated VAR_054417 commonName VAR_054417 VAR_054417 disease not phenotype-associated VAR_054419 commonName VAR_054419 VAR_054419 disease not phenotype-associated VAR_054420 commonName VAR_054420 VAR_054420 disease not phenotype-associated VAR_054421 commonName VAR_054421 VAR_054421 disease not phenotype-associated VAR_054422 commonName VAR_054422 VAR_054422 disease not phenotype-associated VAR_054423 commonName VAR_054423 VAR_054423 disease not phenotype-associated VAR_054424 commonName VAR_054424 VAR_054424 disease not phenotype-associated VAR_054425 commonName VAR_054425 VAR_054425 disease not phenotype-associated VAR_054426 commonName VAR_054426 VAR_054426 disease not phenotype-associated VAR_054427 commonName VAR_054427 VAR_054427 disease not phenotype-associated VAR_054428 commonName VAR_054428 VAR_054428 disease not phenotype-associated VAR_054429 commonName VAR_054429 VAR_054429 disease not phenotype-associated VAR_054430 commonName VAR_054430 VAR_054430 disease not phenotype-associated VAR_054431 commonName VAR_054431 VAR_054431 disease not phenotype-associated VAR_054432 commonName VAR_054432 VAR_054432 disease not phenotype-associated VAR_054433 commonName VAR_054433 VAR_054433 disease not phenotype-associated VAR_054434 commonName VAR_054434 VAR_054434 disease not phenotype-associated VAR_054435 commonName VAR_054435 VAR_054435 disease not phenotype-associated VAR_054436 commonName VAR_054436 VAR_054436 disease not phenotype-associated VAR_054437 commonName VAR_054437 VAR_054437 disease not phenotype-associated VAR_054438 commonName VAR_054438 VAR_054438 disease not phenotype-associated VAR_054439 commonName VAR_054439 VAR_054439 disease phenotype-associated VAR_054439 phenoCommon Weill-Marchesani syndrome autosomal recessive (ARWMS) [MIM:277600] VAR_054440 commonName VAR_054440 VAR_054440 disease not phenotype-associated VAR_054441 commonName VAR_054441 VAR_054441 disease not phenotype-associated VAR_054442 commonName VAR_054442 VAR_054442 disease phenotype-associated VAR_054442 phenoCommon Osteogenesis imperfecta type 7 (OI7) [MIM:610682] VAR_054443 commonName VAR_054443 VAR_054444 commonName VAR_054444 VAR_054444 disease phenotype-associated VAR_054444 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900] VAR_054445 commonName VAR_054445 VAR_054445 disease phenotype-associated VAR_054445 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900] VAR_054446 commonName VAR_054446 VAR_054446 disease phenotype-associated VAR_054446 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900] VAR_054447 commonName VAR_054447 VAR_054447 disease phenotype-associated VAR_054447 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900] VAR_054448 commonName VAR_054448 VAR_054448 disease phenotype-associated VAR_054448 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900] VAR_054449 commonName VAR_054449 VAR_054449 disease phenotype-associated VAR_054449 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900] VAR_054450 commonName VAR_054450 VAR_054450 disease phenotype-associated VAR_054450 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900] VAR_054451 commonName VAR_054451 VAR_054451 disease phenotype-associated VAR_054451 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900] VAR_054452 commonName VAR_054452 VAR_054452 disease phenotype-associated VAR_054452 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900] VAR_054453 commonName VAR_054453 VAR_054453 disease phenotype-associated VAR_054453 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900] VAR_054454 commonName VAR_054454 VAR_054454 disease phenotype-associated VAR_054454 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_054455 commonName VAR_054455 VAR_054455 disease phenotype-associated VAR_054455 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_054456 commonName VAR_054456 VAR_054456 disease phenotype-associated VAR_054456 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_054460 commonName VAR_054460 VAR_054460 disease phenotype-associated VAR_054460 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_054462 commonName VAR_054462 VAR_054462 disease phenotype-associated VAR_054462 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_054463 commonName VAR_054463 VAR_054463 disease phenotype-associated VAR_054463 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_054464 commonName VAR_054464 VAR_054464 disease phenotype-associated VAR_054464 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_054466 commonName VAR_054466 VAR_054466 disease phenotype-associated VAR_054466 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_054467 commonName VAR_054467 VAR_054467 disease phenotype-associated VAR_054467 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_054468 commonName VAR_054468 VAR_054468 disease phenotype-associated VAR_054468 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_054469 commonName VAR_054469 VAR_054469 disease phenotype-associated VAR_054469 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_054470 commonName VAR_054470 VAR_054470 disease phenotype-associated VAR_054470 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_054471 commonName VAR_054471 VAR_054471 disease phenotype-associated VAR_054471 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_054472 commonName VAR_054472 VAR_054472 disease phenotype-associated VAR_054472 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_054473 commonName VAR_054473 VAR_054473 disease phenotype-associated VAR_054473 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_054474 commonName VAR_054474 VAR_054474 disease phenotype-associated VAR_054474 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_054475 commonName VAR_054475 VAR_054475 disease phenotype-associated VAR_054475 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_054476 commonName VAR_054476 VAR_054476 disease phenotype-associated VAR_054476 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_054477 commonName VAR_054477 VAR_054477 disease not phenotype-associated VAR_054478 commonName VAR_054478 VAR_054478 disease not phenotype-associated VAR_054479 commonName VAR_054479 VAR_054479 disease not phenotype-associated VAR_054480 commonName VAR_054480 VAR_054480 disease not phenotype-associated VAR_054481 commonName VAR_054481 VAR_054481 disease not phenotype-associated VAR_054482 commonName VAR_054482 VAR_054482 disease not phenotype-associated VAR_054484 commonName VAR_054484 VAR_054484 disease not phenotype-associated VAR_054485 commonName VAR_054485 VAR_054485 disease not phenotype-associated VAR_054486 commonName VAR_054486 VAR_054486 disease not phenotype-associated VAR_054487 commonName VAR_054487 VAR_054487 disease not phenotype-associated VAR_054488 commonName VAR_054488 VAR_054488 disease not phenotype-associated VAR_054489 commonName VAR_054489 VAR_054489 disease not phenotype-associated VAR_054490 commonName VAR_054490 VAR_054490 disease not phenotype-associated VAR_054491 commonName VAR_054491 VAR_054491 disease not phenotype-associated VAR_054492 commonName VAR_054492 VAR_054492 disease not phenotype-associated VAR_054493 commonName VAR_054493 VAR_054493 disease not phenotype-associated VAR_054494 commonName VAR_054494 VAR_054494 disease not phenotype-associated VAR_054495 commonName VAR_054495 VAR_054495 disease not phenotype-associated VAR_054496 commonName VAR_054496 VAR_054496 disease not phenotype-associated VAR_054497 commonName VAR_054497 VAR_054497 disease not phenotype-associated VAR_054498 commonName VAR_054498 VAR_054498 disease not phenotype-associated VAR_054499 commonName VAR_054499 VAR_054499 disease phenotype-associated VAR_054499 phenoCommon Dyggve-Melchior-Clausen syndrome (DMC) [MIM:223800] VAR_054500 commonName VAR_054500 VAR_054500 disease not phenotype-associated VAR_054501 commonName VAR_054501 VAR_054501 disease not phenotype-associated VAR_054502 commonName VAR_054502 VAR_054502 disease not phenotype-associated VAR_054503 commonName VAR_054503 VAR_054503 disease not phenotype-associated VAR_054504 commonName VAR_054504 VAR_054504 disease not phenotype-associated VAR_054505 commonName VAR_054505 VAR_054505 disease not phenotype-associated VAR_054506 commonName VAR_054506 VAR_054506 disease not phenotype-associated VAR_054507 commonName VAR_054507 VAR_054507 disease not phenotype-associated VAR_054508 commonName VAR_054508 VAR_054508 disease not phenotype-associated VAR_054509 commonName VAR_054509 VAR_054509 disease not phenotype-associated VAR_054510 commonName VAR_054510 VAR_054510 disease phenotype-associated VAR_054510 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900] VAR_054511 commonName VAR_054511 VAR_054511 disease phenotype-associated VAR_054511 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_054512 commonName VAR_054512 VAR_054512 disease phenotype-associated VAR_054512 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_054513 commonName VAR_054513 VAR_054513 disease phenotype-associated VAR_054513 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_054514 commonName VAR_054514 VAR_054515 commonName VAR_054515 VAR_054516 commonName VAR_054516 VAR_054517 commonName VAR_054517 VAR_054518 commonName VAR_054518 VAR_054519 commonName VAR_054519 VAR_054522 commonName VAR_054522 VAR_054523 commonName VAR_054523 VAR_054524 commonName VAR_054524 VAR_054525 commonName VAR_054525 VAR_054526 commonName VAR_054526 VAR_054527 commonName VAR_054527 VAR_054528 commonName VAR_054528 VAR_054529 commonName VAR_054529 VAR_054530 commonName VAR_054530 VAR_054531 commonName VAR_054531 VAR_054532 commonName VAR_054532 VAR_054533 commonName VAR_054533 VAR_054534 commonName VAR_054534 VAR_054535 commonName VAR_054535 VAR_054536 commonName VAR_054536 VAR_054537 commonName VAR_054537 VAR_054538 commonName VAR_054538 VAR_054539 commonName VAR_054539 VAR_054539 disease not phenotype-associated VAR_054540 commonName VAR_054540 VAR_054540 disease not phenotype-associated VAR_054541 commonName VAR_054541 VAR_054541 disease not phenotype-associated VAR_054542 commonName VAR_054542 VAR_054542 disease not phenotype-associated VAR_054543 commonName VAR_054543 VAR_054543 disease not phenotype-associated VAR_054544 commonName VAR_054544 VAR_054544 disease not phenotype-associated VAR_054545 commonName VAR_054545 VAR_054545 disease not phenotype-associated VAR_054546 commonName VAR_054546 VAR_054546 disease not phenotype-associated VAR_054547 commonName VAR_054547 VAR_054547 disease not phenotype-associated VAR_054548 commonName VAR_054548 VAR_054548 disease not phenotype-associated VAR_054549 commonName VAR_054549 VAR_054549 disease not phenotype-associated VAR_054550 commonName VAR_054550 VAR_054550 disease not phenotype-associated VAR_054551 commonName VAR_054551 VAR_054551 disease not phenotype-associated VAR_054552 commonName VAR_054552 VAR_054552 disease not phenotype-associated VAR_054553 commonName VAR_054553 VAR_054553 disease not phenotype-associated VAR_054554 commonName VAR_054554 VAR_054554 disease not phenotype-associated VAR_054555 commonName VAR_054555 VAR_054555 disease phenotype-associated VAR_054555 phenoCommon Usher syndrome type 3A (USH3A) [MIM:276902] VAR_054556 commonName VAR_054556 VAR_054556 disease phenotype-associated VAR_054556 phenoCommon Usher syndrome type 3A (USH3A) [MIM:276902] VAR_054557 commonName VAR_054557 VAR_054557 disease phenotype-associated VAR_054557 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054558 commonName VAR_054558 VAR_054558 disease phenotype-associated VAR_054558 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054559 commonName VAR_054559 VAR_054559 disease phenotype-associated VAR_054559 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054560 commonName VAR_054560 VAR_054560 disease phenotype-associated VAR_054560 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054561 commonName VAR_054561 VAR_054561 disease phenotype-associated VAR_054561 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054562 commonName VAR_054562 VAR_054562 disease phenotype-associated VAR_054562 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054563 commonName VAR_054563 VAR_054563 disease phenotype-associated VAR_054563 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054564 commonName VAR_054564 VAR_054564 disease phenotype-associated VAR_054564 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054565 commonName VAR_054565 VAR_054565 disease phenotype-associated VAR_054565 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054566 commonName VAR_054566 VAR_054566 disease not phenotype-associated VAR_054567 commonName VAR_054567 VAR_054567 disease phenotype-associated VAR_054567 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054568 commonName VAR_054568 VAR_054568 disease phenotype-associated VAR_054568 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054569 commonName VAR_054569 VAR_054569 disease not phenotype-associated VAR_054570 commonName VAR_054570 VAR_054570 disease phenotype-associated VAR_054570 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054571 commonName VAR_054571 VAR_054571 disease phenotype-associated VAR_054571 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054572 commonName VAR_054572 VAR_054572 disease phenotype-associated VAR_054572 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054574 commonName VAR_054574 VAR_054574 disease not phenotype-associated VAR_054575 commonName VAR_054575 VAR_054575 disease phenotype-associated VAR_054575 phenoCommon Retinitis pigmentosa type 39 (RP39) [MIM:613809] VAR_054576 commonName VAR_054576 VAR_054576 disease phenotype-associated VAR_054576 phenoCommon Retinitis pigmentosa type 39 (RP39) [MIM:613809] VAR_054577 commonName VAR_054577 VAR_054577 disease not phenotype-associated VAR_054578 commonName VAR_054578 VAR_054578 disease phenotype-associated VAR_054578 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054579 commonName VAR_054579 VAR_054579 disease phenotype-associated VAR_054579 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054580 commonName VAR_054580 VAR_054580 disease not phenotype-associated VAR_054581 commonName VAR_054581 VAR_054581 disease phenotype-associated VAR_054581 phenoCommon Retinitis pigmentosa type 39 (RP39) [MIM:613809] VAR_054582 commonName VAR_054582 VAR_054582 disease not phenotype-associated VAR_054583 commonName VAR_054583 VAR_054583 disease not phenotype-associated VAR_054584 commonName VAR_054584 VAR_054584 disease phenotype-associated VAR_054584 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054585 commonName VAR_054585 VAR_054585 disease not phenotype-associated VAR_054586 commonName VAR_054586 VAR_054586 disease not phenotype-associated VAR_054587 commonName VAR_054587 VAR_054587 disease not phenotype-associated VAR_054588 commonName VAR_054588 VAR_054588 disease phenotype-associated VAR_054588 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054590 commonName VAR_054590 VAR_054590 disease not phenotype-associated VAR_054591 commonName VAR_054591 VAR_054591 disease phenotype-associated VAR_054591 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054592 commonName VAR_054592 VAR_054592 disease not phenotype-associated VAR_054593 commonName VAR_054593 VAR_054593 disease phenotype-associated VAR_054593 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054594 commonName VAR_054594 VAR_054594 disease not phenotype-associated VAR_054595 commonName VAR_054595 VAR_054595 disease not phenotype-associated VAR_054596 commonName VAR_054596 VAR_054596 disease not phenotype-associated VAR_054597 commonName VAR_054597 VAR_054597 disease phenotype-associated VAR_054597 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054598 commonName VAR_054598 VAR_054598 disease phenotype-associated VAR_054598 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054599 commonName VAR_054599 VAR_054599 disease phenotype-associated VAR_054599 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054600 commonName VAR_054600 VAR_054600 disease phenotype-associated VAR_054600 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054602 commonName VAR_054602 VAR_054602 disease phenotype-associated VAR_054602 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054603 commonName VAR_054603 VAR_054603 disease phenotype-associated VAR_054603 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054604 commonName VAR_054604 VAR_054604 disease phenotype-associated VAR_054604 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054605 commonName VAR_054605 VAR_054605 disease not phenotype-associated VAR_054606 commonName VAR_054606 VAR_054606 disease not phenotype-associated VAR_054607 commonName VAR_054607 VAR_054607 disease not phenotype-associated VAR_054608 commonName VAR_054608 VAR_054608 disease phenotype-associated VAR_054608 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054609 commonName VAR_054609 VAR_054609 disease phenotype-associated VAR_054609 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054610 commonName VAR_054610 VAR_054610 disease phenotype-associated VAR_054610 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054611 commonName VAR_054611 VAR_054611 disease phenotype-associated VAR_054611 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054612 commonName VAR_054612 VAR_054612 disease phenotype-associated VAR_054612 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054613 commonName VAR_054613 VAR_054613 disease not phenotype-associated VAR_054614 commonName VAR_054614 VAR_054614 disease phenotype-associated VAR_054614 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054615 commonName VAR_054615 VAR_054615 disease phenotype-associated VAR_054615 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054616 commonName VAR_054616 VAR_054616 disease phenotype-associated VAR_054616 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054617 commonName VAR_054617 VAR_054617 disease not phenotype-associated VAR_054618 commonName VAR_054618 VAR_054618 disease phenotype-associated VAR_054618 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054619 commonName VAR_054619 VAR_054619 disease phenotype-associated VAR_054619 phenoCommon Usher syndrome type 2A (USH2A) [MIM:276901] VAR_054620 commonName VAR_054620 VAR_054620 disease not phenotype-associated VAR_054621 commonName VAR_054621 VAR_054621 disease not phenotype-associated VAR_054622 commonName VAR_054622 VAR_054622 disease not phenotype-associated VAR_054623 commonName VAR_054623 VAR_054623 disease phenotype-associated VAR_054623 phenoCommon Kallmann syndrome type 5 (KAL5) [MIM:612370] VAR_054624 commonName VAR_054624 VAR_054624 disease phenotype-associated VAR_054624 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110] VAR_054625 commonName VAR_054625 VAR_054625 disease not phenotype-associated VAR_054626 commonName VAR_054626 VAR_054626 disease phenotype-associated VAR_054626 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110] VAR_054627 commonName VAR_054627 VAR_054627 disease phenotype-associated VAR_054627 phenoCommon Kallmann syndrome type 5 (KAL5) [MIM:612370] VAR_054628 commonName VAR_054628 VAR_054628 disease phenotype-associated VAR_054628 phenoCommon Cardiomyopathy dilated type 1AA (CMD1AA) [MIM:612158] VAR_054629 commonName VAR_054629 VAR_054629 disease phenotype-associated VAR_054629 phenoCommon Erythropoietic protoporphyria (EPP) [MIM:177000] VAR_054630 commonName VAR_054630 VAR_054630 disease phenotype-associated VAR_054630 phenoCommon Reticular dysgenesis (RDYS) [MIM:267500] VAR_054631 commonName VAR_054631 VAR_054631 disease phenotype-associated VAR_054631 phenoCommon Reticular dysgenesis (RDYS) [MIM:267500] VAR_054632 commonName VAR_054632 VAR_054632 disease not phenotype-associated VAR_054633 commonName VAR_054633 VAR_054633 disease not phenotype-associated VAR_054634 commonName VAR_054634 VAR_054634 disease not phenotype-associated VAR_054635 commonName VAR_054635 VAR_054635 disease not phenotype-associated VAR_054636 commonName VAR_054636 VAR_054636 disease not phenotype-associated VAR_054637 commonName VAR_054637 VAR_054637 disease not phenotype-associated VAR_054638 commonName VAR_054638 VAR_054638 disease not phenotype-associated VAR_054639 commonName VAR_054639 VAR_054639 disease not phenotype-associated VAR_054640 commonName VAR_054640 VAR_054640 disease not phenotype-associated VAR_054641 commonName VAR_054641 VAR_054641 disease not phenotype-associated VAR_054646 commonName VAR_054646 VAR_054646 disease not phenotype-associated VAR_054647 commonName VAR_054647 VAR_054647 disease not phenotype-associated VAR_054648 commonName VAR_054648 VAR_054648 disease not phenotype-associated VAR_054649 commonName VAR_054649 VAR_054649 disease not phenotype-associated VAR_054650 commonName VAR_054650 VAR_054650 disease not phenotype-associated VAR_054651 commonName VAR_054651 VAR_054651 disease not phenotype-associated VAR_054652 commonName VAR_054652 VAR_054652 disease not phenotype-associated VAR_054653 commonName VAR_054653 VAR_054653 disease not phenotype-associated VAR_054654 commonName VAR_054654 VAR_054654 disease not phenotype-associated VAR_054655 commonName VAR_054655 VAR_054655 disease not phenotype-associated VAR_054656 commonName VAR_054656 VAR_054656 disease not phenotype-associated VAR_054657 commonName VAR_054657 VAR_054657 disease not phenotype-associated VAR_054660 commonName VAR_054660 VAR_054660 disease not phenotype-associated VAR_054661 commonName VAR_054661 VAR_054661 disease not phenotype-associated VAR_054663 commonName VAR_054663 VAR_054663 disease phenotype-associated VAR_054663 phenoCommon Progressive myoclonic epilepsy type 1B (EPM1B) [MIM:612437] VAR_054664 commonName VAR_054664 VAR_054664 disease not phenotype-associated VAR_054665 commonName VAR_054665 VAR_054665 disease not phenotype-associated VAR_054666 commonName VAR_054666 VAR_054666 disease not phenotype-associated VAR_054667 commonName VAR_054667 VAR_054667 disease not phenotype-associated VAR_054668 commonName VAR_054668 VAR_054668 disease not phenotype-associated VAR_054669 commonName VAR_054669 VAR_054669 disease not phenotype-associated VAR_054670 commonName VAR_054670 VAR_054670 disease phenotype-associated VAR_054670 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_054671 commonName VAR_054671 VAR_054671 disease phenotype-associated VAR_054671 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_054672 commonName VAR_054672 VAR_054672 disease phenotype-associated VAR_054672 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_054673 commonName VAR_054673 VAR_054673 disease phenotype-associated VAR_054673 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_054674 commonName VAR_054674 VAR_054674 disease phenotype-associated VAR_054674 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_054675 commonName VAR_054675 VAR_054675 disease phenotype-associated VAR_054675 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_054676 commonName VAR_054676 VAR_054676 disease phenotype-associated VAR_054676 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_054677 commonName VAR_054677 VAR_054677 disease phenotype-associated VAR_054677 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_054678 commonName VAR_054678 VAR_054678 disease phenotype-associated VAR_054678 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_054679 commonName VAR_054679 VAR_054679 disease phenotype-associated VAR_054679 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_054680 commonName VAR_054680 VAR_054680 disease phenotype-associated VAR_054680 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_054681 commonName VAR_054681 VAR_054681 disease phenotype-associated VAR_054681 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_054682 commonName VAR_054682 VAR_054682 disease phenotype-associated VAR_054682 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_054683 commonName VAR_054683 VAR_054683 disease phenotype-associated VAR_054683 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_054684 commonName VAR_054684 VAR_054684 disease phenotype-associated VAR_054684 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_054685 commonName VAR_054685 VAR_054685 disease phenotype-associated VAR_054685 phenoCommon Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900] VAR_054699 commonName VAR_054699 VAR_054699 disease phenotype-associated VAR_054699 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054700 commonName VAR_054700 VAR_054700 disease phenotype-associated VAR_054700 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054701 commonName VAR_054701 VAR_054701 disease phenotype-associated VAR_054701 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054702 commonName VAR_054702 VAR_054702 disease phenotype-associated VAR_054702 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054703 commonName VAR_054703 VAR_054703 disease phenotype-associated VAR_054703 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054704 commonName VAR_054704 VAR_054704 disease phenotype-associated VAR_054704 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054705 commonName VAR_054705 VAR_054705 disease phenotype-associated VAR_054705 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054706 commonName VAR_054706 VAR_054706 disease phenotype-associated VAR_054706 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054707 commonName VAR_054707 VAR_054707 disease phenotype-associated VAR_054707 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054708 commonName VAR_054708 VAR_054708 disease phenotype-associated VAR_054708 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054709 commonName VAR_054709 VAR_054709 disease phenotype-associated VAR_054709 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054710 commonName VAR_054710 VAR_054710 disease phenotype-associated VAR_054710 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054711 commonName VAR_054711 VAR_054711 disease phenotype-associated VAR_054711 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054712 commonName VAR_054712 VAR_054712 disease phenotype-associated VAR_054712 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054713 commonName VAR_054713 VAR_054713 disease phenotype-associated VAR_054713 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054714 commonName VAR_054714 VAR_054714 disease phenotype-associated VAR_054714 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054715 commonName VAR_054715 VAR_054715 disease phenotype-associated VAR_054715 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054716 commonName VAR_054716 VAR_054716 disease phenotype-associated VAR_054716 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054717 commonName VAR_054717 VAR_054717 disease phenotype-associated VAR_054717 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054718 commonName VAR_054718 VAR_054718 disease phenotype-associated VAR_054718 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054719 commonName VAR_054719 VAR_054719 disease phenotype-associated VAR_054719 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054720 commonName VAR_054720 VAR_054720 disease phenotype-associated VAR_054720 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054721 commonName VAR_054721 VAR_054721 disease phenotype-associated VAR_054721 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054722 commonName VAR_054722 VAR_054722 disease phenotype-associated VAR_054722 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054723 commonName VAR_054723 VAR_054723 disease phenotype-associated VAR_054723 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054724 commonName VAR_054724 VAR_054724 disease phenotype-associated VAR_054724 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054725 commonName VAR_054725 VAR_054725 disease phenotype-associated VAR_054725 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054726 commonName VAR_054726 VAR_054726 disease phenotype-associated VAR_054726 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054727 commonName VAR_054727 VAR_054727 disease phenotype-associated VAR_054727 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054728 commonName VAR_054728 VAR_054728 disease phenotype-associated VAR_054728 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054729 commonName VAR_054729 VAR_054729 disease phenotype-associated VAR_054729 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054730 commonName VAR_054730 VAR_054730 disease phenotype-associated VAR_054730 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054731 commonName VAR_054731 VAR_054731 disease phenotype-associated VAR_054731 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054732 commonName VAR_054732 VAR_054732 disease phenotype-associated VAR_054732 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054733 commonName VAR_054733 VAR_054733 disease phenotype-associated VAR_054733 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054734 commonName VAR_054734 VAR_054734 disease phenotype-associated VAR_054734 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054735 commonName VAR_054735 VAR_054735 disease phenotype-associated VAR_054735 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054736 commonName VAR_054736 VAR_054736 disease phenotype-associated VAR_054736 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054737 commonName VAR_054737 VAR_054737 disease phenotype-associated VAR_054737 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054738 commonName VAR_054738 VAR_054738 disease phenotype-associated VAR_054738 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054739 commonName VAR_054739 VAR_054739 disease phenotype-associated VAR_054739 phenoCommon Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920] VAR_054740 commonName VAR_054740 VAR_054740 disease not phenotype-associated VAR_054741 commonName VAR_054741 VAR_054741 disease phenotype-associated VAR_054741 phenoCommon Parkinson disease type 8 (PARK8) [MIM:607060] VAR_054742 commonName VAR_054742 VAR_054742 disease not phenotype-associated VAR_054743 commonName VAR_054743 VAR_054743 disease not phenotype-associated VAR_054752 commonName VAR_054752 VAR_054752 disease not phenotype-associated VAR_054753 commonName VAR_054753 VAR_054753 disease not phenotype-associated VAR_054754 commonName VAR_054754 VAR_054754 disease not phenotype-associated VAR_054755 commonName VAR_054755 VAR_054755 disease phenotype-associated VAR_054755 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] VAR_054756 commonName VAR_054756 VAR_054756 disease phenotype-associated VAR_054756 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] VAR_054757 commonName VAR_054757 VAR_054757 disease phenotype-associated VAR_054757 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] VAR_054757 phenoCommon GLUT1 deficiency syndrome type 2 (GLUT1DS2) [MIM:612126] VAR_054758 commonName VAR_054758 VAR_054758 disease phenotype-associated VAR_054758 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] VAR_054759 commonName VAR_054759 VAR_054759 disease phenotype-associated VAR_054759 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] VAR_054761 commonName VAR_054761 VAR_054761 disease phenotype-associated VAR_054761 phenoCommon GLUT1 deficiency syndrome type 2 (GLUT1DS2) [MIM:612126] VAR_054763 commonName VAR_054763 VAR_054763 disease phenotype-associated VAR_054763 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] VAR_054764 commonName VAR_054764 VAR_054764 disease phenotype-associated VAR_054764 phenoCommon GLUT1 deficiency syndrome type 2 (GLUT1DS2) [MIM:612126] VAR_054765 commonName VAR_054765 VAR_054765 disease not phenotype-associated VAR_054766 commonName VAR_054766 VAR_054766 disease not phenotype-associated VAR_054767 commonName VAR_054767 VAR_054767 disease not phenotype-associated VAR_054768 commonName VAR_054768 VAR_054768 disease not phenotype-associated VAR_054769 commonName VAR_054769 VAR_054769 disease not phenotype-associated VAR_054774 commonName VAR_054774 VAR_054774 disease not phenotype-associated VAR_054775 commonName VAR_054775 VAR_054775 disease phenotype-associated VAR_054775 phenoCommon Congenital bile acid synthesis defect type 1 (CBAS1) [MIM:607765] VAR_054776 commonName VAR_054776 VAR_054776 disease phenotype-associated VAR_054776 phenoCommon Congenital bile acid synthesis defect type 1 (CBAS1) [MIM:607765] VAR_054777 commonName VAR_054777 VAR_054777 disease not phenotype-associated VAR_054778 commonName VAR_054778 VAR_054778 disease not phenotype-associated VAR_054779 commonName VAR_054779 VAR_054779 disease not phenotype-associated VAR_054780 commonName VAR_054780 VAR_054780 disease not phenotype-associated VAR_054781 commonName VAR_054781 VAR_054781 disease not phenotype-associated VAR_054782 commonName VAR_054782 VAR_054782 disease not phenotype-associated VAR_054783 commonName VAR_054783 VAR_054783 disease not phenotype-associated VAR_054784 commonName VAR_054784 VAR_054784 disease not phenotype-associated VAR_054785 commonName VAR_054785 VAR_054785 disease phenotype-associated VAR_054785 phenoCommon Leukodystrophy hypomyelinating type 4 (HLD4) [MIM:612233] VAR_054786 commonName VAR_054786 VAR_054786 disease not phenotype-associated VAR_054788 commonName VAR_054788 VAR_054788 disease phenotype-associated VAR_054788 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_054791 commonName VAR_054791 VAR_054791 disease not phenotype-associated VAR_054792 commonName VAR_054792 VAR_054792 disease not phenotype-associated VAR_054793 commonName VAR_054793 VAR_054793 disease not phenotype-associated VAR_054794 commonName VAR_054794 VAR_054794 disease not phenotype-associated VAR_054795 commonName VAR_054795 VAR_054795 disease not phenotype-associated VAR_054796 commonName VAR_054796 VAR_054796 disease not phenotype-associated VAR_054797 commonName VAR_054797 VAR_054797 disease not phenotype-associated VAR_054798 commonName VAR_054798 VAR_054798 disease not phenotype-associated VAR_054799 commonName VAR_054799 VAR_054799 disease not phenotype-associated VAR_054800 commonName VAR_054800 VAR_054800 disease not phenotype-associated VAR_054802 commonName VAR_054802 VAR_054802 disease not phenotype-associated VAR_054803 commonName VAR_054803 VAR_054803 disease not phenotype-associated VAR_054804 commonName VAR_054804 VAR_054804 disease not phenotype-associated VAR_054805 commonName VAR_054805 VAR_054805 disease phenotype-associated VAR_054805 phenoCommon Brachyolmia type 3 (BRAC3) [MIM:113500] VAR_054806 commonName VAR_054806 VAR_054806 disease phenotype-associated VAR_054806 phenoCommon Brachyolmia type 3 (BRAC3) [MIM:113500] VAR_054807 commonName VAR_054807 VAR_054807 disease phenotype-associated VAR_054807 phenoCommon Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078] VAR_054808 commonName VAR_054808 VAR_054808 disease phenotype-associated VAR_054808 phenoCommon Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078] VAR_054809 commonName VAR_054809 VAR_054809 disease phenotype-associated VAR_054809 phenoCommon Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078] VAR_054810 commonName VAR_054810 VAR_054810 disease phenotype-associated VAR_054810 phenoCommon Pontocerebellar hypoplasia type 2B (PCH2B) [MIM:612389] VAR_054811 commonName VAR_054811 VAR_054811 disease phenotype-associated VAR_054811 phenoCommon Pontocerebellar hypoplasia type 2C (PCH2C) [MIM:612390] VAR_054812 commonName VAR_054812 VAR_054812 disease phenotype-associated VAR_054812 phenoCommon Pontocerebellar hypoplasia type 4 (PCH4) [MIM:225753] VAR_054813 commonName VAR_054813 VAR_054813 disease phenotype-associated VAR_054813 phenoCommon Pontocerebellar hypoplasia type 2A (PCH2A) [MIM:277470] VAR_054813 phenoCommon Pontocerebellar hypoplasia type 4 (PCH4) [MIM:225753] VAR_054814 commonName VAR_054814 VAR_054814 disease not phenotype-associated VAR_054815 commonName VAR_054815 VAR_054815 disease not phenotype-associated VAR_054816 commonName VAR_054816 VAR_054816 disease not phenotype-associated VAR_054817 commonName VAR_054817 VAR_054817 disease not phenotype-associated VAR_054818 commonName VAR_054818 VAR_054818 disease not phenotype-associated VAR_054819 commonName VAR_054819 VAR_054819 disease not phenotype-associated VAR_054820 commonName VAR_054820 VAR_054820 disease not phenotype-associated VAR_054821 commonName VAR_054821 VAR_054821 disease not phenotype-associated VAR_054822 commonName VAR_054822 VAR_054822 disease not phenotype-associated VAR_054828 commonName VAR_054828 VAR_054828 disease phenotype-associated VAR_054828 phenoCommon Mental retardation autosomal dominant type 4 (MRD4) [MIM:612581] VAR_054829 commonName VAR_054829 VAR_054829 disease phenotype-associated VAR_054829 phenoCommon Mental retardation autosomal dominant type 4 (MRD4) [MIM:612581] VAR_054830 commonName VAR_054830 VAR_054830 disease phenotype-associated VAR_054830 phenoCommon Mental retardation autosomal dominant type 4 (MRD4) [MIM:612581] VAR_054831 commonName VAR_054831 VAR_054831 disease not phenotype-associated VAR_054832 commonName VAR_054832 VAR_054832 disease phenotype-associated VAR_054832 phenoCommon Amyotrophic lateral sclerosis type 11 (ALS11) [MIM:612577] VAR_054833 commonName VAR_054833 VAR_054833 disease not phenotype-associated VAR_054834 commonName VAR_054834 VAR_054834 disease not phenotype-associated VAR_054835 commonName VAR_054835 VAR_054835 disease not phenotype-associated VAR_054836 commonName VAR_054836 VAR_054836 disease not phenotype-associated VAR_054837 commonName VAR_054837 VAR_054837 disease phenotype-associated VAR_054837 phenoCommon Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030] VAR_054838 commonName VAR_054838 VAR_054838 disease phenotype-associated VAR_054838 phenoCommon Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030] VAR_054839 commonName VAR_054839 VAR_054839 disease phenotype-associated VAR_054839 phenoCommon Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030] VAR_054840 commonName VAR_054840 VAR_054840 disease phenotype-associated VAR_054840 phenoCommon Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030] VAR_054841 commonName VAR_054841 VAR_054842 commonName VAR_054842 VAR_054842 disease phenotype-associated VAR_054842 phenoCommon Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030] VAR_054843 commonName VAR_054843 VAR_054843 disease phenotype-associated VAR_054843 phenoCommon Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030] VAR_054844 commonName VAR_054844 VAR_054844 disease phenotype-associated VAR_054844 phenoCommon Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030] VAR_054845 commonName VAR_054845 VAR_054845 disease phenotype-associated VAR_054845 phenoCommon Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030] VAR_054846 commonName VAR_054846 VAR_054846 disease phenotype-associated VAR_054846 phenoCommon Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030] VAR_054847 commonName VAR_054847 VAR_054847 disease phenotype-associated VAR_054847 phenoCommon Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030] VAR_054848 commonName VAR_054848 VAR_054848 disease phenotype-associated VAR_054848 phenoCommon Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030] VAR_054849 commonName VAR_054849 VAR_054849 disease phenotype-associated VAR_054849 phenoCommon Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030] VAR_054850 commonName VAR_054850 VAR_054850 disease phenotype-associated VAR_054850 phenoCommon Spastic paraplegia autosomal dominant type 42 (SPG42) [MIM:612539] VAR_054851 commonName VAR_054851 VAR_054851 disease phenotype-associated VAR_054851 phenoCommon Retinitis pigmentosa type 46 (RP46) [MIM:612572] VAR_054852 commonName VAR_054852 VAR_054852 disease phenotype-associated VAR_054852 phenoCommon Glutaric aciduria type 3 (GA3) [MIM:231690] VAR_054853 commonName VAR_054853 VAR_054853 disease not phenotype-associated VAR_054854 commonName VAR_054854 VAR_054854 disease phenotype-associated VAR_054854 phenoCommon Molybdenum cofactor deficiency type B (MOCOD type B) [MIM:252150] VAR_054855 commonName VAR_054855 VAR_054855 disease not phenotype-associated VAR_054856 commonName VAR_054856 VAR_054856 disease not phenotype-associated VAR_054857 commonName VAR_054857 VAR_054857 disease not phenotype-associated VAR_054858 commonName VAR_054858 VAR_054858 disease not phenotype-associated VAR_054859 commonName VAR_054859 VAR_054859 disease not phenotype-associated VAR_054860 comment Polymorphism associated with increased risk of lung cancer VAR_054860 commonName VAR_054860 VAR_054861 commonName VAR_054861 VAR_054861 disease not phenotype-associated VAR_054862 commonName VAR_054862 VAR_054862 disease not phenotype-associated VAR_054863 commonName VAR_054863 VAR_054863 disease not phenotype-associated VAR_054864 commonName VAR_054864 VAR_054864 disease not phenotype-associated VAR_054865 commonName VAR_054865 VAR_054865 disease not phenotype-associated VAR_054866 commonName VAR_054866 VAR_054866 disease not phenotype-associated VAR_054867 commonName VAR_054867 VAR_054867 disease not phenotype-associated VAR_054868 commonName VAR_054868 VAR_054868 disease not phenotype-associated VAR_054869 commonName VAR_054869 VAR_054869 disease not phenotype-associated VAR_054870 commonName VAR_054870 VAR_054870 disease not phenotype-associated VAR_054871 commonName VAR_054871 VAR_054871 disease not phenotype-associated VAR_054872 commonName VAR_054872 VAR_054872 disease not phenotype-associated VAR_054873 commonName VAR_054873 VAR_054873 disease phenotype-associated VAR_054873 phenoCommon Complete pure gonadal dysgenesis 46,XY type (GDXYM) [MIM:233420] VAR_054874 commonName VAR_054874 VAR_054874 disease phenotype-associated VAR_054874 phenoCommon Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050] VAR_054875 commonName VAR_054875 VAR_054875 disease phenotype-associated VAR_054875 phenoCommon Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050] VAR_054876 commonName VAR_054876 VAR_054876 disease phenotype-associated VAR_054876 phenoCommon Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050] VAR_054877 commonName VAR_054877 VAR_054877 disease phenotype-associated VAR_054877 phenoCommon Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050] VAR_054878 commonName VAR_054878 VAR_054878 disease not phenotype-associated VAR_054879 commonName VAR_054879 VAR_054879 disease not phenotype-associated VAR_054880 commonName VAR_054880 VAR_054881 commonName VAR_054881 VAR_054882 commonName VAR_054882 VAR_054883 commonName VAR_054883 VAR_054883 disease phenotype-associated VAR_054883 phenoCommon Maturity-onset diabetes of the young type 9 (MODY9) [MIM:612225] VAR_054884 commonName VAR_054884 VAR_054884 disease not phenotype-associated VAR_054885 commonName VAR_054885 VAR_054885 disease not phenotype-associated VAR_054886 commonName VAR_054886 VAR_054886 disease not phenotype-associated VAR_054887 commonName VAR_054887 VAR_054887 disease phenotype-associated VAR_054887 phenoCommon Herpes simplex encephalitis type 2 (HSE2) [MIM:613002] VAR_054888 commonName VAR_054888 VAR_054888 disease not phenotype-associated VAR_054889 commonName VAR_054889 VAR_054889 disease not phenotype-associated VAR_054890 commonName VAR_054890 VAR_054890 disease not phenotype-associated VAR_054891 commonName VAR_054891 VAR_054891 disease not phenotype-associated VAR_054892 commonName VAR_054892 VAR_054892 disease not phenotype-associated VAR_054893 commonName VAR_054893 VAR_054893 disease phenotype-associated VAR_054893 phenoCommon Spastic paraplegia autosomal recessive type 35 (SPG35) [MIM:612319] VAR_054894 commonName VAR_054894 VAR_054894 disease phenotype-associated VAR_054894 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_054895 commonName VAR_054895 VAR_054895 disease phenotype-associated VAR_054895 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_054896 commonName VAR_054896 VAR_054896 disease phenotype-associated VAR_054896 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_054897 commonName VAR_054897 VAR_054897 disease phenotype-associated VAR_054897 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_054898 commonName VAR_054898 VAR_054898 disease phenotype-associated VAR_054898 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_054899 commonName VAR_054899 VAR_054899 disease phenotype-associated VAR_054899 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_054900 commonName VAR_054900 VAR_054900 disease phenotype-associated VAR_054900 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_054901 commonName VAR_054901 VAR_054901 disease phenotype-associated VAR_054901 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_054902 commonName VAR_054902 VAR_054902 disease phenotype-associated VAR_054902 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_054903 commonName VAR_054903 VAR_054903 disease phenotype-associated VAR_054903 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_054904 commonName VAR_054904 VAR_054904 disease phenotype-associated VAR_054904 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_054905 commonName VAR_054905 VAR_054905 disease phenotype-associated VAR_054905 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_054906 commonName VAR_054906 VAR_054906 disease phenotype-associated VAR_054906 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_054907 commonName VAR_054907 VAR_054907 disease phenotype-associated VAR_054907 phenoCommon Prekallikrein deficiency (PKK deficiency) [MIM:612423] VAR_054909 commonName VAR_054909 VAR_054909 disease phenotype-associated VAR_054909 phenoCommon Symphalangism proximal syndrome (SYM1) [MIM:185800] VAR_054910 commonName VAR_054910 VAR_054910 disease phenotype-associated VAR_054910 phenoCommon Du Pan syndrome (DPS) [MIM:228900] VAR_054911 commonName VAR_054911 VAR_054911 disease phenotype-associated VAR_054911 phenoCommon Du Pan syndrome (DPS) [MIM:228900] VAR_054913 commonName VAR_054913 VAR_054913 disease phenotype-associated VAR_054913 phenoCommon Lysyl hydroxylase 3 deficiency (LH3 deficiency) [MIM:612394] VAR_054914 commonName VAR_054914 VAR_054914 disease not phenotype-associated VAR_054915 commonName VAR_054915 VAR_054915 disease not phenotype-associated VAR_054916 commonName VAR_054916 VAR_054916 disease not phenotype-associated VAR_054917 commonName VAR_054917 VAR_054917 disease not phenotype-associated VAR_054918 commonName VAR_054918 VAR_054918 disease not phenotype-associated VAR_054919 commonName VAR_054919 VAR_054919 disease not phenotype-associated VAR_054920 commonName VAR_054920 VAR_054920 disease not phenotype-associated VAR_054921 commonName VAR_054921 VAR_054921 disease not phenotype-associated VAR_054922 commonName VAR_054922 VAR_054922 disease not phenotype-associated VAR_054923 commonName VAR_054923 VAR_054923 disease not phenotype-associated VAR_054924 commonName VAR_054924 VAR_054924 disease not phenotype-associated VAR_054925 commonName VAR_054925 VAR_054925 disease not phenotype-associated VAR_054926 commonName VAR_054926 VAR_054926 disease not phenotype-associated VAR_054934 commonName VAR_054934 VAR_054934 disease phenotype-associated VAR_054934 phenoCommon Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] VAR_054935 commonName VAR_054935 VAR_054935 disease phenotype-associated VAR_054935 phenoCommon Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345] VAR_054936 commonName VAR_054936 VAR_054936 disease phenotype-associated VAR_054936 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] VAR_054937 commonName VAR_054937 VAR_054937 disease phenotype-associated VAR_054937 phenoCommon Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] VAR_054938 commonName VAR_054938 VAR_054938 disease phenotype-associated VAR_054938 phenoCommon Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] VAR_054939 commonName VAR_054939 VAR_054939 disease phenotype-associated VAR_054939 phenoCommon Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345] VAR_054940 commonName VAR_054940 VAR_054940 disease phenotype-associated VAR_054940 phenoCommon Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] VAR_054941 commonName VAR_054941 VAR_054941 disease phenotype-associated VAR_054941 phenoCommon Periodic paralysis hyperkalemic (HYPP) [MIM:170500] VAR_054941 phenoCommon Periodic paralysis normokalemic (NKPP) [MIM:170500] VAR_054942 commonName VAR_054942 VAR_054942 disease phenotype-associated VAR_054942 phenoCommon Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] VAR_054943 commonName VAR_054943 VAR_054943 disease phenotype-associated VAR_054943 phenoCommon Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345] VAR_054944 commonName VAR_054944 VAR_054944 disease phenotype-associated VAR_054944 phenoCommon Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345] VAR_054945 commonName VAR_054945 VAR_054945 disease phenotype-associated VAR_054945 phenoCommon Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] VAR_054946 commonName VAR_054946 VAR_054946 disease phenotype-associated VAR_054946 phenoCommon Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] VAR_054947 commonName VAR_054947 VAR_054947 disease phenotype-associated VAR_054947 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] VAR_054948 commonName VAR_054948 VAR_054948 disease phenotype-associated VAR_054948 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] VAR_054949 commonName VAR_054949 VAR_054949 disease phenotype-associated VAR_054949 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] VAR_054950 commonName VAR_054950 VAR_054950 disease phenotype-associated VAR_054950 phenoCommon Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] VAR_054951 commonName VAR_054951 VAR_054951 disease phenotype-associated VAR_054951 phenoCommon Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] VAR_054952 commonName VAR_054952 VAR_054952 disease phenotype-associated VAR_054952 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] VAR_054953 commonName VAR_054953 VAR_054953 disease phenotype-associated VAR_054953 phenoCommon Periodic paralysis hypokalemic type 1 (HOKPP1) [MIM:170400] VAR_054954 commonName VAR_054954 VAR_054954 disease phenotype-associated VAR_054954 phenoCommon Periodic paralysis hypokalemic type 1 (HOKPP1) [MIM:170400] VAR_054955 commonName VAR_054955 VAR_054955 disease phenotype-associated VAR_054955 phenoCommon Deafness autosomal recessive type 63 (DFNB63) [MIM:611451] VAR_054956 commonName VAR_054956 VAR_054956 disease phenotype-associated VAR_054956 phenoCommon Deafness autosomal recessive type 63 (DFNB63) [MIM:611451] VAR_054957 commonName VAR_054957 VAR_054957 disease phenotype-associated VAR_054957 phenoCommon Deafness autosomal recessive type 63 (DFNB63) [MIM:611451] VAR_054958 commonName VAR_054958 VAR_054958 disease not phenotype-associated VAR_054959 commonName VAR_054959 VAR_054959 disease not phenotype-associated VAR_054960 commonName VAR_054960 VAR_054960 disease not phenotype-associated VAR_054961 commonName VAR_054961 VAR_054961 disease not phenotype-associated VAR_054962 commonName VAR_054962 VAR_054962 disease not phenotype-associated VAR_054963 commonName VAR_054963 VAR_054963 disease not phenotype-associated VAR_054964 commonName VAR_054964 VAR_054964 disease not phenotype-associated VAR_054965 commonName VAR_054965 VAR_054965 disease not phenotype-associated VAR_054966 commonName VAR_054966 VAR_054967 commonName VAR_054967 VAR_054967 disease phenotype-associated VAR_054967 phenoCommon Mental retardation autosomal dominant type 3 (MRD3) [MIM:612580] VAR_054968 commonName VAR_054968 VAR_054968 disease phenotype-associated VAR_054968 phenoCommon Mental retardation autosomal dominant type 3 (MRD3) [MIM:612580] VAR_054969 commonName VAR_054969 VAR_054969 disease phenotype-associated VAR_054969 phenoCommon Mental retardation autosomal dominant type 3 (MRD3) [MIM:612580] VAR_054970 commonName VAR_054970 VAR_054970 disease not phenotype-associated VAR_054972 commonName VAR_054972 VAR_054972 disease not phenotype-associated VAR_054973 commonName VAR_054973 VAR_054973 disease phenotype-associated VAR_054973 phenoCommon Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600] VAR_054974 commonName VAR_054974 VAR_054974 disease not phenotype-associated VAR_054975 commonName VAR_054975 VAR_054975 disease not phenotype-associated VAR_054976 commonName VAR_054976 VAR_054976 disease not phenotype-associated VAR_054977 commonName VAR_054977 VAR_054977 disease phenotype-associated VAR_054977 phenoCommon Thrombophilia due to heparin cofactor 2 deficiency (THPH10) [MIM:612356] VAR_054978 commonName VAR_054978 VAR_054978 disease phenotype-associated VAR_054978 phenoCommon Thrombophilia due to heparin cofactor 2 deficiency (THPH10) [MIM:612356] VAR_054979 commonName VAR_054979 VAR_054979 disease not phenotype-associated VAR_054980 commonName VAR_054980 VAR_054980 disease not phenotype-associated VAR_054981 commonName VAR_054981 VAR_054981 disease phenotype-associated VAR_054981 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050] VAR_054982 commonName VAR_054982 VAR_054982 disease phenotype-associated VAR_054982 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050] VAR_054983 commonName VAR_054983 VAR_054983 disease phenotype-associated VAR_054983 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050] VAR_054984 commonName VAR_054984 VAR_054984 disease phenotype-associated VAR_054984 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050] VAR_054985 commonName VAR_054985 VAR_054985 disease phenotype-associated VAR_054985 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050] VAR_054986 commonName VAR_054986 VAR_054986 disease phenotype-associated VAR_054986 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050] VAR_054987 commonName VAR_054987 VAR_054987 disease phenotype-associated VAR_054987 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050] VAR_054988 commonName VAR_054988 VAR_054988 disease not phenotype-associated VAR_054989 commonName VAR_054989 VAR_054989 disease not phenotype-associated VAR_054990 commonName VAR_054990 VAR_054990 disease not phenotype-associated VAR_054991 commonName VAR_054991 VAR_054991 disease phenotype-associated VAR_054991 phenoCommon Spherocytosis type 1 (SPH1) [MIM:182900] VAR_054992 commonName VAR_054992 VAR_054992 disease phenotype-associated VAR_054992 phenoCommon Spherocytosis type 1 (SPH1) [MIM:182900] VAR_054993 commonName VAR_054993 VAR_054993 disease phenotype-associated VAR_054993 phenoCommon Diarrhea type 2 (DIAR2) [MIM:251850] VAR_054994 commonName VAR_054994 VAR_054994 disease phenotype-associated VAR_054994 phenoCommon Diarrhea type 2 (DIAR2) [MIM:251850] VAR_054995 commonName VAR_054995 VAR_054995 disease phenotype-associated VAR_054995 phenoCommon Diarrhea type 2 (DIAR2) [MIM:251850] VAR_054997 commonName VAR_054997 VAR_054997 disease phenotype-associated VAR_054997 phenoCommon Encephalopathy acute infection-induced type 3 (IIAE3) [MIM:608033] VAR_054998 commonName VAR_054998 VAR_054998 disease phenotype-associated VAR_054998 phenoCommon Encephalopathy acute infection-induced type 3 (IIAE3) [MIM:608033] VAR_054999 commonName VAR_054999 VAR_054999 disease phenotype-associated VAR_054999 phenoCommon Encephalopathy acute infection-induced type 3 (IIAE3) [MIM:608033] VAR_055000 commonName VAR_055000 VAR_055001 commonName VAR_055001 VAR_055002 commonName VAR_055002 VAR_055002 disease phenotype-associated VAR_055002 phenoCommon Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955] VAR_055003 commonName VAR_055003 VAR_055003 disease not phenotype-associated VAR_055004 commonName VAR_055004 VAR_055004 disease not phenotype-associated VAR_055005 commonName VAR_055005 VAR_055005 disease not phenotype-associated VAR_055006 commonName VAR_055006 VAR_055006 disease not phenotype-associated VAR_055007 commonName VAR_055007 VAR_055007 disease not phenotype-associated VAR_055008 commonName VAR_055008 VAR_055008 disease not phenotype-associated VAR_055009 commonName VAR_055009 VAR_055009 disease not phenotype-associated VAR_055010 commonName VAR_055010 VAR_055010 disease not phenotype-associated VAR_055011 commonName VAR_055011 VAR_055011 disease not phenotype-associated VAR_055012 commonName VAR_055012 VAR_055012 disease not phenotype-associated VAR_055013 commonName VAR_055013 VAR_055013 disease not phenotype-associated VAR_055014 commonName VAR_055014 VAR_055014 disease not phenotype-associated VAR_055015 commonName VAR_055015 VAR_055015 disease not phenotype-associated VAR_055016 commonName VAR_055016 VAR_055016 disease not phenotype-associated VAR_055017 commonName VAR_055017 VAR_055017 disease not phenotype-associated VAR_055018 commonName VAR_055018 VAR_055018 disease not phenotype-associated VAR_055019 commonName VAR_055019 VAR_055019 disease not phenotype-associated VAR_055020 commonName VAR_055020 VAR_055020 disease not phenotype-associated VAR_055021 commonName VAR_055021 VAR_055021 disease not phenotype-associated VAR_055022 commonName VAR_055022 VAR_055022 disease not phenotype-associated VAR_055023 commonName VAR_055023 VAR_055023 disease not phenotype-associated VAR_055024 commonName VAR_055024 VAR_055024 disease not phenotype-associated VAR_055025 commonName VAR_055025 VAR_055025 disease not phenotype-associated VAR_055026 commonName VAR_055026 VAR_055026 disease not phenotype-associated VAR_055027 commonName VAR_055027 VAR_055027 disease not phenotype-associated VAR_055028 commonName VAR_055028 VAR_055028 disease not phenotype-associated VAR_055029 commonName VAR_055029 VAR_055029 disease not phenotype-associated VAR_055030 commonName VAR_055030 VAR_055030 disease not phenotype-associated VAR_055033 commonName VAR_055033 VAR_055033 disease not phenotype-associated VAR_055034 commonName VAR_055034 VAR_055034 disease not phenotype-associated VAR_055035 commonName VAR_055035 VAR_055035 disease not phenotype-associated VAR_055036 commonName VAR_055036 VAR_055036 disease not phenotype-associated VAR_055037 commonName VAR_055037 VAR_055037 disease not phenotype-associated VAR_055038 commonName VAR_055038 VAR_055038 disease not phenotype-associated VAR_055039 commonName VAR_055039 VAR_055039 disease not phenotype-associated VAR_055040 commonName VAR_055040 VAR_055040 disease not phenotype-associated VAR_055041 commonName VAR_055041 VAR_055041 disease not phenotype-associated VAR_055042 commonName VAR_055042 VAR_055042 disease not phenotype-associated VAR_055043 commonName VAR_055043 VAR_055043 disease not phenotype-associated VAR_055044 commonName VAR_055044 VAR_055044 disease not phenotype-associated VAR_055045 commonName VAR_055045 VAR_055045 disease not phenotype-associated VAR_055046 commonName VAR_055046 VAR_055046 disease not phenotype-associated VAR_055047 commonName VAR_055047 VAR_055047 disease not phenotype-associated VAR_055048 commonName VAR_055048 VAR_055048 disease not phenotype-associated VAR_055049 commonName VAR_055049 VAR_055049 disease not phenotype-associated VAR_055050 commonName VAR_055050 VAR_055050 disease not phenotype-associated VAR_055051 commonName VAR_055051 VAR_055051 disease not phenotype-associated VAR_055052 commonName VAR_055052 VAR_055052 disease not phenotype-associated VAR_055053 commonName VAR_055053 VAR_055053 disease not phenotype-associated VAR_055054 commonName VAR_055054 VAR_055054 disease not phenotype-associated VAR_055055 commonName VAR_055055 VAR_055055 disease not phenotype-associated VAR_055056 commonName VAR_055056 VAR_055056 disease not phenotype-associated VAR_055057 commonName VAR_055057 VAR_055057 disease not phenotype-associated VAR_055058 commonName VAR_055058 VAR_055058 disease not phenotype-associated VAR_055059 commonName VAR_055059 VAR_055059 disease not phenotype-associated VAR_055060 commonName VAR_055060 VAR_055060 disease not phenotype-associated VAR_055061 commonName VAR_055061 VAR_055061 disease not phenotype-associated VAR_055062 commonName VAR_055062 VAR_055062 disease not phenotype-associated VAR_055063 commonName VAR_055063 VAR_055063 disease not phenotype-associated VAR_055064 commonName VAR_055064 VAR_055064 disease not phenotype-associated VAR_055065 commonName VAR_055065 VAR_055065 disease not phenotype-associated VAR_055066 commonName VAR_055066 VAR_055066 disease not phenotype-associated VAR_055067 commonName VAR_055067 VAR_055067 disease not phenotype-associated VAR_055068 commonName VAR_055068 VAR_055068 disease not phenotype-associated VAR_055069 commonName VAR_055069 VAR_055069 disease not phenotype-associated VAR_055070 commonName VAR_055070 VAR_055070 disease not phenotype-associated VAR_055071 commonName VAR_055071 VAR_055071 disease not phenotype-associated VAR_055072 commonName VAR_055072 VAR_055072 disease not phenotype-associated VAR_055073 commonName VAR_055073 VAR_055073 disease not phenotype-associated VAR_055074 commonName VAR_055074 VAR_055074 disease phenotype-associated VAR_055074 phenoCommon Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] VAR_055075 commonName VAR_055075 VAR_055075 disease not phenotype-associated VAR_055076 commonName VAR_055076 VAR_055076 disease not phenotype-associated VAR_055077 commonName VAR_055077 VAR_055077 disease not phenotype-associated VAR_055078 commonName VAR_055078 VAR_055078 disease not phenotype-associated VAR_055079 commonName VAR_055079 VAR_055079 disease not phenotype-associated VAR_055080 commonName VAR_055080 VAR_055080 disease not phenotype-associated VAR_055081 commonName VAR_055081 VAR_055081 disease not phenotype-associated VAR_055082 commonName VAR_055082 VAR_055082 disease not phenotype-associated VAR_055083 commonName VAR_055083 VAR_055083 disease not phenotype-associated VAR_055084 commonName VAR_055084 VAR_055084 disease not phenotype-associated VAR_055085 commonName VAR_055085 VAR_055085 disease not phenotype-associated VAR_055086 commonName VAR_055086 VAR_055086 disease phenotype-associated VAR_055086 phenoCommon Delayed sleep phase syndrome (DSPS) [MIM:614163] VAR_055087 commonName VAR_055087 VAR_055087 disease not phenotype-associated VAR_055088 commonName VAR_055088 VAR_055088 disease not phenotype-associated VAR_055089 commonName VAR_055089 VAR_055089 disease not phenotype-associated VAR_055090 commonName VAR_055090 VAR_055090 disease not phenotype-associated VAR_055091 commonName VAR_055091 VAR_055091 disease not phenotype-associated VAR_055093 commonName VAR_055093 VAR_055093 disease not phenotype-associated VAR_055094 commonName VAR_055094 VAR_055094 disease not phenotype-associated VAR_055095 commonName VAR_055095 VAR_055095 disease not phenotype-associated VAR_055096 commonName VAR_055096 VAR_055096 disease not phenotype-associated VAR_055097 commonName VAR_055097 VAR_055097 disease not phenotype-associated VAR_055100 commonName VAR_055100 VAR_055100 disease not phenotype-associated VAR_055101 commonName VAR_055101 VAR_055101 disease not phenotype-associated VAR_055102 commonName VAR_055102 VAR_055102 disease not phenotype-associated VAR_055103 commonName VAR_055103 VAR_055103 disease not phenotype-associated VAR_055104 commonName VAR_055104 VAR_055104 disease not phenotype-associated VAR_055105 commonName VAR_055105 VAR_055105 disease not phenotype-associated VAR_055106 commonName VAR_055106 VAR_055106 disease not phenotype-associated VAR_055107 commonName VAR_055107 VAR_055107 disease not phenotype-associated VAR_055108 commonName VAR_055108 VAR_055108 disease not phenotype-associated VAR_055109 commonName VAR_055109 VAR_055109 disease not phenotype-associated VAR_055110 commonName VAR_055110 VAR_055110 disease not phenotype-associated VAR_055111 commonName VAR_055111 VAR_055111 disease not phenotype-associated VAR_055112 commonName VAR_055112 VAR_055112 disease not phenotype-associated VAR_055113 commonName VAR_055113 VAR_055113 disease not phenotype-associated VAR_055114 commonName VAR_055114 VAR_055114 disease not phenotype-associated VAR_055115 commonName VAR_055115 VAR_055115 disease not phenotype-associated VAR_055116 commonName VAR_055116 VAR_055116 disease not phenotype-associated VAR_055117 commonName VAR_055117 VAR_055117 disease not phenotype-associated VAR_055118 commonName VAR_055118 VAR_055118 disease not phenotype-associated VAR_055119 commonName VAR_055119 VAR_055119 disease not phenotype-associated VAR_055121 commonName VAR_055121 VAR_055121 disease not phenotype-associated VAR_055122 commonName VAR_055122 VAR_055122 disease not phenotype-associated VAR_055123 commonName VAR_055123 VAR_055123 disease not phenotype-associated VAR_055124 commonName VAR_055124 VAR_055124 disease not phenotype-associated VAR_055125 commonName VAR_055125 VAR_055125 disease not phenotype-associated VAR_055126 commonName VAR_055126 VAR_055126 disease not phenotype-associated VAR_055127 commonName VAR_055127 VAR_055127 disease not phenotype-associated VAR_055128 commonName VAR_055128 VAR_055128 disease not phenotype-associated VAR_055129 commonName VAR_055129 VAR_055129 disease not phenotype-associated VAR_055130 commonName VAR_055130 VAR_055130 disease not phenotype-associated VAR_055131 commonName VAR_055131 VAR_055131 disease not phenotype-associated VAR_055132 commonName VAR_055132 VAR_055132 disease not phenotype-associated VAR_055133 commonName VAR_055133 VAR_055133 disease not phenotype-associated VAR_055134 commonName VAR_055134 VAR_055134 disease not phenotype-associated VAR_055135 commonName VAR_055135 VAR_055135 disease not phenotype-associated VAR_055136 commonName VAR_055136 VAR_055136 disease not phenotype-associated VAR_055137 commonName VAR_055137 VAR_055137 disease not phenotype-associated VAR_055138 commonName VAR_055138 VAR_055138 disease not phenotype-associated VAR_055139 commonName VAR_055139 VAR_055139 disease not phenotype-associated VAR_055140 commonName VAR_055140 VAR_055140 disease not phenotype-associated VAR_055141 commonName VAR_055141 VAR_055141 disease not phenotype-associated VAR_055142 commonName VAR_055142 VAR_055142 disease not phenotype-associated VAR_055143 commonName VAR_055143 VAR_055143 disease not phenotype-associated VAR_055144 commonName VAR_055144 VAR_055144 disease not phenotype-associated VAR_055145 commonName VAR_055145 VAR_055145 disease not phenotype-associated VAR_055146 commonName VAR_055146 VAR_055146 disease not phenotype-associated VAR_055147 commonName VAR_055147 VAR_055147 disease not phenotype-associated VAR_055148 commonName VAR_055148 VAR_055148 disease not phenotype-associated VAR_055150 commonName VAR_055150 VAR_055150 disease not phenotype-associated VAR_055151 commonName VAR_055151 VAR_055151 disease not phenotype-associated VAR_055152 commonName VAR_055152 VAR_055152 disease not phenotype-associated VAR_055153 commonName VAR_055153 VAR_055153 disease not phenotype-associated VAR_055154 commonName VAR_055154 VAR_055154 disease not phenotype-associated VAR_055155 commonName VAR_055155 VAR_055155 disease not phenotype-associated VAR_055156 commonName VAR_055156 VAR_055156 disease phenotype-associated VAR_055156 phenoCommon Neutropenia severe congenital autosomal recessive type 4 (SCN4) [MIM:612541] VAR_055157 commonName VAR_055157 VAR_055157 disease phenotype-associated VAR_055157 phenoCommon Neutropenia severe congenital autosomal recessive type 4 (SCN4) [MIM:612541] VAR_055158 commonName VAR_055158 VAR_055158 disease phenotype-associated VAR_055158 phenoCommon Neutropenia severe congenital autosomal recessive type 4 (SCN4) [MIM:612541] VAR_055159 commonName VAR_055159 VAR_055159 disease phenotype-associated VAR_055159 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_055160 commonName VAR_055160 VAR_055160 disease phenotype-associated VAR_055160 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_055161 commonName VAR_055161 VAR_055161 disease phenotype-associated VAR_055161 phenoCommon Familial atrial fibrillation type 10 (ATFB10) [MIM:614022] VAR_055162 commonName VAR_055162 VAR_055162 disease phenotype-associated VAR_055162 phenoCommon Progressive familial heart block type 1A (PFHB1A) [MIM:113900] VAR_055163 commonName VAR_055163 VAR_055163 disease not phenotype-associated VAR_055164 commonName VAR_055164 VAR_055164 disease phenotype-associated VAR_055164 phenoCommon Progressive familial heart block type 1A (PFHB1A) [MIM:113900] VAR_055165 commonName VAR_055165 VAR_055165 disease not phenotype-associated VAR_055166 commonName VAR_055166 VAR_055166 disease phenotype-associated VAR_055166 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_055167 commonName VAR_055167 VAR_055167 disease phenotype-associated VAR_055167 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_055168 commonName VAR_055168 VAR_055168 disease phenotype-associated VAR_055168 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_055169 commonName VAR_055169 VAR_055170 commonName VAR_055170 VAR_055170 disease phenotype-associated VAR_055170 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_055171 commonName VAR_055171 VAR_055171 disease phenotype-associated VAR_055171 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_055172 commonName VAR_055172 VAR_055172 disease phenotype-associated VAR_055172 phenoCommon Familial atrial fibrillation type 10 (ATFB10) [MIM:614022] VAR_055173 commonName VAR_055173 VAR_055173 disease phenotype-associated VAR_055173 phenoCommon Familial atrial fibrillation type 10 (ATFB10) [MIM:614022] VAR_055174 commonName VAR_055174 VAR_055174 disease not phenotype-associated VAR_055175 commonName VAR_055175 VAR_055175 disease phenotype-associated VAR_055175 phenoCommon Familial atrial fibrillation type 10 (ATFB10) [MIM:614022] VAR_055176 commonName VAR_055176 VAR_055177 commonName VAR_055177 VAR_055177 disease phenotype-associated VAR_055177 phenoCommon Sudden infant death syndrome (SIDS) [MIM:272120] VAR_055178 commonName VAR_055178 VAR_055178 disease phenotype-associated VAR_055178 phenoCommon Familial atrial fibrillation type 10 (ATFB10) [MIM:614022] VAR_055178 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_055180 commonName VAR_055180 VAR_055180 disease phenotype-associated VAR_055180 phenoCommon Familial atrial fibrillation type 10 (ATFB10) [MIM:614022] VAR_055181 commonName VAR_055181 VAR_055181 disease phenotype-associated VAR_055181 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_055182 commonName VAR_055182 VAR_055182 disease phenotype-associated VAR_055182 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_055183 commonName VAR_055183 VAR_055183 disease phenotype-associated VAR_055183 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_055184 commonName VAR_055184 VAR_055184 disease phenotype-associated VAR_055184 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_055185 commonName VAR_055185 VAR_055185 disease phenotype-associated VAR_055185 phenoCommon Sudden infant death syndrome (SIDS) [MIM:272120] VAR_055186 commonName VAR_055186 VAR_055186 disease phenotype-associated VAR_055186 phenoCommon Familial atrial fibrillation type 10 (ATFB10) [MIM:614022] VAR_055187 commonName VAR_055187 VAR_055187 disease phenotype-associated VAR_055187 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_055188 commonName VAR_055188 VAR_055188 disease not phenotype-associated VAR_055189 commonName VAR_055189 VAR_055189 disease phenotype-associated VAR_055189 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_055190 commonName VAR_055190 VAR_055190 disease phenotype-associated VAR_055190 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_055191 commonName VAR_055191 VAR_055191 disease phenotype-associated VAR_055191 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_055192 commonName VAR_055192 VAR_055192 disease phenotype-associated VAR_055192 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_055193 commonName VAR_055193 VAR_055193 disease phenotype-associated VAR_055193 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_055194 commonName VAR_055194 VAR_055194 disease phenotype-associated VAR_055194 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_055195 commonName VAR_055195 VAR_055195 disease phenotype-associated VAR_055195 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_055196 commonName VAR_055196 VAR_055196 disease phenotype-associated VAR_055196 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_055198 commonName VAR_055198 VAR_055198 disease phenotype-associated VAR_055198 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_055199 commonName VAR_055199 VAR_055199 disease phenotype-associated VAR_055199 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_055201 commonName VAR_055201 VAR_055201 disease phenotype-associated VAR_055201 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_055201 phenoCommon Progressive familial heart block type 1A (PFHB1A) [MIM:113900] VAR_055202 commonName VAR_055202 VAR_055202 disease phenotype-associated VAR_055202 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_055203 commonName VAR_055203 VAR_055203 disease phenotype-associated VAR_055203 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_055203 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_055204 commonName VAR_055204 VAR_055204 disease phenotype-associated VAR_055204 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_055205 commonName VAR_055205 VAR_055205 disease phenotype-associated VAR_055205 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_055206 commonName VAR_055206 VAR_055206 disease phenotype-associated VAR_055206 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_055207 commonName VAR_055207 VAR_055207 disease phenotype-associated VAR_055207 phenoCommon Sudden infant death syndrome (SIDS) [MIM:272120] VAR_055208 commonName VAR_055208 VAR_055208 disease phenotype-associated VAR_055208 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_055209 commonName VAR_055209 VAR_055209 disease phenotype-associated VAR_055209 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_055210 commonName VAR_055210 VAR_055210 disease phenotype-associated VAR_055210 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_055211 commonName VAR_055211 VAR_055211 disease phenotype-associated VAR_055211 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_055212 commonName VAR_055212 VAR_055212 disease phenotype-associated VAR_055212 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_055213 commonName VAR_055213 VAR_055213 disease phenotype-associated VAR_055213 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_055214 commonName VAR_055214 VAR_055214 disease phenotype-associated VAR_055214 phenoCommon Familial atrial fibrillation type 10 (ATFB10) [MIM:614022] VAR_055215 commonName VAR_055215 VAR_055215 disease phenotype-associated VAR_055215 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_055216 commonName VAR_055216 VAR_055217 commonName VAR_055217 VAR_055217 disease phenotype-associated VAR_055217 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_055218 commonName VAR_055218 VAR_055218 disease phenotype-associated VAR_055218 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_055219 commonName VAR_055219 VAR_055219 disease phenotype-associated VAR_055219 phenoCommon Familial atrial fibrillation type 10 (ATFB10) [MIM:614022] VAR_055220 commonName VAR_055220 VAR_055220 disease phenotype-associated VAR_055220 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_055221 commonName VAR_055221 VAR_055221 disease phenotype-associated VAR_055221 phenoCommon Brugada syndrome type 1 (BRGDA1) [MIM:601144] VAR_055221 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_055222 commonName VAR_055222 VAR_055222 disease phenotype-associated VAR_055222 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_055223 commonName VAR_055223 VAR_055223 disease not phenotype-associated VAR_055224 commonName VAR_055224 VAR_055224 disease not phenotype-associated VAR_055225 commonName VAR_055225 VAR_055225 disease not phenotype-associated VAR_055226 commonName VAR_055226 VAR_055226 disease not phenotype-associated VAR_055228 commonName VAR_055228 VAR_055228 disease not phenotype-associated VAR_055229 commonName VAR_055229 VAR_055229 disease not phenotype-associated VAR_055230 commonName VAR_055230 VAR_055230 disease not phenotype-associated VAR_055231 commonName VAR_055231 VAR_055231 disease not phenotype-associated VAR_055232 commonName VAR_055232 VAR_055232 disease phenotype-associated VAR_055232 phenoCommon Factor II deficiency (FA2D) [MIM:613679] VAR_055234 commonName VAR_055234 VAR_055234 disease phenotype-associated VAR_055234 phenoCommon Catecholaminergic polymorphic ventricular tachycardia type 2 (CPVT2) [MIM:611938] VAR_055235 commonName VAR_055235 VAR_055235 disease phenotype-associated VAR_055235 phenoCommon Primary ciliary dyskinesia type 11 (CILD11) [MIM:612649] VAR_055237 commonName VAR_055237 VAR_055237 disease not phenotype-associated VAR_055238 commonName VAR_055238 VAR_055238 disease not phenotype-associated VAR_055239 commonName VAR_055239 VAR_055239 disease not phenotype-associated VAR_055240 commonName VAR_055240 VAR_055240 disease not phenotype-associated VAR_055241 commonName VAR_055241 VAR_055241 disease not phenotype-associated VAR_055242 commonName VAR_055242 VAR_055242 disease not phenotype-associated VAR_055243 commonName VAR_055243 VAR_055243 disease not phenotype-associated VAR_055244 commonName VAR_055244 VAR_055244 disease not phenotype-associated VAR_055245 commonName VAR_055245 VAR_055245 disease not phenotype-associated VAR_055246 commonName VAR_055246 VAR_055246 disease not phenotype-associated VAR_055247 commonName VAR_055247 VAR_055247 disease not phenotype-associated VAR_055248 commonName VAR_055248 VAR_055248 disease not phenotype-associated VAR_055249 commonName VAR_055249 VAR_055249 disease not phenotype-associated VAR_055250 commonName VAR_055250 VAR_055250 disease not phenotype-associated VAR_055251 commonName VAR_055251 VAR_055251 disease not phenotype-associated VAR_055252 commonName VAR_055252 VAR_055252 disease not phenotype-associated VAR_055253 commonName VAR_055253 VAR_055253 disease not phenotype-associated VAR_055254 commonName VAR_055254 VAR_055254 disease not phenotype-associated VAR_055255 commonName VAR_055255 VAR_055255 disease not phenotype-associated VAR_055257 commonName VAR_055257 VAR_055257 disease not phenotype-associated VAR_055258 commonName VAR_055258 VAR_055258 disease not phenotype-associated VAR_055259 commonName VAR_055259 VAR_055259 disease not phenotype-associated VAR_055260 commonName VAR_055260 VAR_055260 disease not phenotype-associated VAR_055261 commonName VAR_055261 VAR_055261 disease not phenotype-associated VAR_055262 commonName VAR_055262 VAR_055262 disease not phenotype-associated VAR_055263 commonName VAR_055263 VAR_055263 disease not phenotype-associated VAR_055264 commonName VAR_055264 VAR_055264 disease not phenotype-associated VAR_055265 commonName VAR_055265 VAR_055265 disease not phenotype-associated VAR_055266 commonName VAR_055266 VAR_055266 disease not phenotype-associated VAR_055267 commonName VAR_055267 VAR_055267 disease not phenotype-associated VAR_055268 commonName VAR_055268 VAR_055268 disease not phenotype-associated VAR_055269 commonName VAR_055269 VAR_055269 disease not phenotype-associated VAR_055270 commonName VAR_055270 VAR_055270 disease not phenotype-associated VAR_055271 commonName VAR_055271 VAR_055271 disease not phenotype-associated VAR_055272 commonName VAR_055272 VAR_055272 disease not phenotype-associated VAR_055273 commonName VAR_055273 VAR_055273 disease not phenotype-associated VAR_055274 commonName VAR_055274 VAR_055274 disease not phenotype-associated VAR_055275 commonName VAR_055275 VAR_055275 disease not phenotype-associated VAR_055276 commonName VAR_055276 VAR_055276 disease not phenotype-associated VAR_055277 commonName VAR_055277 VAR_055277 disease not phenotype-associated VAR_055278 commonName VAR_055278 VAR_055278 disease not phenotype-associated VAR_055279 commonName VAR_055279 VAR_055279 disease not phenotype-associated VAR_055280 commonName VAR_055280 VAR_055280 disease not phenotype-associated VAR_055281 commonName VAR_055281 VAR_055281 disease not phenotype-associated VAR_055282 commonName VAR_055282 VAR_055282 disease not phenotype-associated VAR_055283 commonName VAR_055283 VAR_055283 disease not phenotype-associated VAR_055284 commonName VAR_055284 VAR_055284 disease not phenotype-associated VAR_055285 commonName VAR_055285 VAR_055285 disease not phenotype-associated VAR_055286 commonName VAR_055286 VAR_055286 disease not phenotype-associated VAR_055287 commonName VAR_055287 VAR_055287 disease not phenotype-associated VAR_055288 commonName VAR_055288 VAR_055288 disease not phenotype-associated VAR_055289 commonName VAR_055289 VAR_055289 disease not phenotype-associated VAR_055290 commonName VAR_055290 VAR_055290 disease not phenotype-associated VAR_055291 commonName VAR_055291 VAR_055291 disease not phenotype-associated VAR_055292 commonName VAR_055292 VAR_055292 disease not phenotype-associated VAR_055293 commonName VAR_055293 VAR_055293 disease not phenotype-associated VAR_055294 commonName VAR_055294 VAR_055294 disease not phenotype-associated VAR_055295 commonName VAR_055295 VAR_055295 disease not phenotype-associated VAR_055296 commonName VAR_055296 VAR_055296 disease not phenotype-associated VAR_055297 commonName VAR_055297 VAR_055297 disease not phenotype-associated VAR_055298 commonName VAR_055298 VAR_055298 disease not phenotype-associated VAR_055299 commonName VAR_055299 VAR_055299 disease not phenotype-associated VAR_055300 commonName VAR_055300 VAR_055300 disease not phenotype-associated VAR_055301 commonName VAR_055301 VAR_055301 disease not phenotype-associated VAR_055302 commonName VAR_055302 VAR_055302 disease not phenotype-associated VAR_055303 commonName VAR_055303 VAR_055303 disease not phenotype-associated VAR_055304 commonName VAR_055304 VAR_055304 disease not phenotype-associated VAR_055305 commonName VAR_055305 VAR_055305 disease not phenotype-associated VAR_055306 commonName VAR_055306 VAR_055306 disease not phenotype-associated VAR_055307 commonName VAR_055307 VAR_055307 disease not phenotype-associated VAR_055311 commonName VAR_055311 VAR_055311 disease not phenotype-associated VAR_055312 commonName VAR_055312 VAR_055312 disease not phenotype-associated VAR_055313 commonName VAR_055313 VAR_055313 disease not phenotype-associated VAR_055314 commonName VAR_055314 VAR_055314 disease not phenotype-associated VAR_055315 commonName VAR_055315 VAR_055315 disease not phenotype-associated VAR_055316 commonName VAR_055316 VAR_055316 disease not phenotype-associated VAR_055317 commonName VAR_055317 VAR_055317 disease not phenotype-associated VAR_055318 commonName VAR_055318 VAR_055318 disease not phenotype-associated VAR_055319 commonName VAR_055319 VAR_055319 disease not phenotype-associated VAR_055320 commonName VAR_055320 VAR_055320 disease not phenotype-associated VAR_055321 commonName VAR_055321 VAR_055321 disease phenotype-associated VAR_055321 phenoCommon Joubert syndrome type 9 (JBTS9) [MIM:612285] VAR_055322 commonName VAR_055322 VAR_055322 disease phenotype-associated VAR_055322 phenoCommon Joubert syndrome type 9 (JBTS9) [MIM:612285] VAR_055323 commonName VAR_055323 VAR_055323 disease phenotype-associated VAR_055323 phenoCommon COACH syndrome (COACHS) [MIM:216360] VAR_055323 phenoCommon Joubert syndrome type 9 (JBTS9) [MIM:612285] VAR_055324 commonName VAR_055324 VAR_055324 disease phenotype-associated VAR_055324 phenoCommon Joubert syndrome type 9 (JBTS9) [MIM:612285] VAR_055325 commonName VAR_055325 VAR_055325 disease not phenotype-associated VAR_055326 commonName VAR_055326 VAR_055326 disease not phenotype-associated VAR_055327 commonName VAR_055327 VAR_055327 disease not phenotype-associated VAR_055328 commonName VAR_055328 VAR_055328 disease not phenotype-associated VAR_055329 commonName VAR_055329 VAR_055329 disease not phenotype-associated VAR_055330 commonName VAR_055330 VAR_055330 disease not phenotype-associated VAR_055331 commonName VAR_055331 VAR_055331 disease not phenotype-associated VAR_055332 commonName VAR_055332 VAR_055332 disease not phenotype-associated VAR_055333 commonName VAR_055333 VAR_055333 disease not phenotype-associated VAR_055334 commonName VAR_055334 VAR_055334 disease not phenotype-associated VAR_055335 commonName VAR_055335 VAR_055335 disease not phenotype-associated VAR_055336 commonName VAR_055336 VAR_055336 disease not phenotype-associated VAR_055337 commonName VAR_055337 VAR_055337 disease phenotype-associated VAR_055337 phenoCommon Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631] VAR_055338 commonName VAR_055338 VAR_055338 disease phenotype-associated VAR_055338 phenoCommon Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631] VAR_055340 commonName VAR_055340 VAR_055340 disease phenotype-associated VAR_055340 phenoCommon Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631] VAR_055341 commonName VAR_055341 VAR_055341 disease not phenotype-associated VAR_055342 commonName VAR_055342 VAR_055342 disease not phenotype-associated VAR_055343 commonName VAR_055343 VAR_055344 commonName VAR_055344 VAR_055344 disease not phenotype-associated VAR_055345 commonName VAR_055345 VAR_055345 disease not phenotype-associated VAR_055346 commonName VAR_055346 VAR_055346 disease not phenotype-associated VAR_055347 commonName VAR_055347 VAR_055347 disease not phenotype-associated VAR_055348 commonName VAR_055348 VAR_055348 disease not phenotype-associated VAR_055349 commonName VAR_055349 VAR_055349 disease not phenotype-associated VAR_055350 commonName VAR_055350 VAR_055350 disease not phenotype-associated VAR_055351 commonName VAR_055351 VAR_055351 disease not phenotype-associated VAR_055352 commonName VAR_055352 VAR_055352 disease not phenotype-associated VAR_055353 commonName VAR_055353 VAR_055353 disease not phenotype-associated VAR_055354 commonName VAR_055354 VAR_055354 disease not phenotype-associated VAR_055355 commonName VAR_055355 VAR_055355 disease not phenotype-associated VAR_055356 commonName VAR_055356 VAR_055356 disease not phenotype-associated VAR_055357 commonName VAR_055357 VAR_055357 disease not phenotype-associated VAR_055358 commonName VAR_055358 VAR_055358 disease not phenotype-associated VAR_055359 commonName VAR_055359 VAR_055359 disease not phenotype-associated VAR_055360 commonName VAR_055360 VAR_055360 disease not phenotype-associated VAR_055361 commonName VAR_055361 VAR_055361 disease not phenotype-associated VAR_055362 commonName VAR_055362 VAR_055362 disease not phenotype-associated VAR_055363 commonName VAR_055363 VAR_055363 disease not phenotype-associated VAR_055364 commonName VAR_055364 VAR_055364 disease not phenotype-associated VAR_055365 commonName VAR_055365 VAR_055365 disease not phenotype-associated VAR_055366 commonName VAR_055366 VAR_055366 disease not phenotype-associated VAR_055367 commonName VAR_055367 VAR_055367 disease not phenotype-associated VAR_055368 commonName VAR_055368 VAR_055368 disease not phenotype-associated VAR_055369 commonName VAR_055369 VAR_055369 disease not phenotype-associated VAR_055370 commonName VAR_055370 VAR_055370 disease not phenotype-associated VAR_055372 commonName VAR_055372 VAR_055372 disease not phenotype-associated VAR_055373 commonName VAR_055373 VAR_055373 disease not phenotype-associated VAR_055374 commonName VAR_055374 VAR_055374 disease not phenotype-associated VAR_055375 commonName VAR_055375 VAR_055375 disease not phenotype-associated VAR_055376 commonName VAR_055376 VAR_055376 disease not phenotype-associated VAR_055377 commonName VAR_055377 VAR_055377 disease not phenotype-associated VAR_055378 commonName VAR_055378 VAR_055378 disease not phenotype-associated VAR_055379 commonName VAR_055379 VAR_055379 disease not phenotype-associated VAR_055380 commonName VAR_055380 VAR_055380 disease not phenotype-associated VAR_055381 commonName VAR_055381 VAR_055381 disease not phenotype-associated VAR_055382 commonName VAR_055382 VAR_055382 disease not phenotype-associated VAR_055384 commonName VAR_055384 VAR_055384 disease not phenotype-associated VAR_055385 commonName VAR_055385 VAR_055385 disease not phenotype-associated VAR_055386 commonName VAR_055386 VAR_055386 disease not phenotype-associated VAR_055387 commonName VAR_055387 VAR_055387 disease not phenotype-associated VAR_055388 commonName VAR_055388 VAR_055388 disease not phenotype-associated VAR_055389 commonName VAR_055389 VAR_055389 disease not phenotype-associated VAR_055390 commonName VAR_055390 VAR_055390 disease not phenotype-associated VAR_055391 commonName VAR_055391 VAR_055391 disease not phenotype-associated VAR_055392 commonName VAR_055392 VAR_055392 disease not phenotype-associated VAR_055393 commonName VAR_055393 VAR_055393 disease not phenotype-associated VAR_055394 commonName VAR_055394 VAR_055394 disease not phenotype-associated VAR_055395 commonName VAR_055395 VAR_055395 disease not phenotype-associated VAR_055396 commonName VAR_055396 VAR_055396 disease not phenotype-associated VAR_055397 commonName VAR_055397 VAR_055399 commonName VAR_055399 VAR_055399 disease not phenotype-associated VAR_055400 commonName VAR_055400 VAR_055400 disease not phenotype-associated VAR_055401 commonName VAR_055401 VAR_055401 disease not phenotype-associated VAR_055402 commonName VAR_055402 VAR_055402 disease not phenotype-associated VAR_055403 commonName VAR_055403 VAR_055403 disease not phenotype-associated VAR_055404 commonName VAR_055404 VAR_055404 disease not phenotype-associated VAR_055405 commonName VAR_055405 VAR_055405 disease not phenotype-associated VAR_055406 commonName VAR_055406 VAR_055406 disease not phenotype-associated VAR_055407 commonName VAR_055407 VAR_055407 disease not phenotype-associated VAR_055408 commonName VAR_055408 VAR_055408 disease not phenotype-associated VAR_055409 commonName VAR_055409 VAR_055409 disease not phenotype-associated VAR_055410 commonName VAR_055410 VAR_055410 disease not phenotype-associated VAR_055411 commonName VAR_055411 VAR_055411 disease not phenotype-associated VAR_055412 commonName VAR_055412 VAR_055413 commonName VAR_055413 VAR_055414 commonName VAR_055414 VAR_055414 disease not phenotype-associated VAR_055415 commonName VAR_055415 VAR_055415 disease not phenotype-associated VAR_055416 commonName VAR_055416 VAR_055416 disease not phenotype-associated VAR_055417 commonName VAR_055417 VAR_055417 disease not phenotype-associated VAR_055418 commonName VAR_055418 VAR_055418 disease not phenotype-associated VAR_055419 commonName VAR_055419 VAR_055419 disease not phenotype-associated VAR_055420 commonName VAR_055420 VAR_055420 disease not phenotype-associated VAR_055421 commonName VAR_055421 VAR_055421 disease phenotype-associated VAR_055421 phenoCommon Ovarian cancer (OC) [MIM:167000] VAR_055422 commonName VAR_055422 VAR_055422 disease phenotype-associated VAR_055422 phenoCommon Breast cancer (BC) [MIM:114480] VAR_055422 phenoCommon Proteus syndrome (PROTEUSS) [MIM:176920] VAR_055423 commonName VAR_055423 VAR_055423 disease not phenotype-associated VAR_055424 commonName VAR_055424 VAR_055424 disease not phenotype-associated VAR_055425 commonName VAR_055425 VAR_055425 disease not phenotype-associated VAR_055426 commonName VAR_055426 VAR_055426 disease not phenotype-associated VAR_055427 commonName VAR_055427 VAR_055427 disease not phenotype-associated VAR_055428 commonName VAR_055428 VAR_055428 disease not phenotype-associated VAR_055429 commonName VAR_055429 VAR_055429 disease not phenotype-associated VAR_055431 commonName VAR_055431 VAR_055432 comment A lung adenocarcinoma sample VAR_055432 commonName VAR_055432 VAR_055435 comment A glioblastoma sample VAR_055435 commonName VAR_055435 VAR_055438 commonName VAR_055438 VAR_055438 disease phenotype-associated VAR_055438 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] VAR_055439 commonName VAR_055439 VAR_055439 disease phenotype-associated VAR_055439 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] VAR_055440 commonName VAR_055440 VAR_055440 disease phenotype-associated VAR_055440 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] VAR_055441 commonName VAR_055441 VAR_055441 disease phenotype-associated VAR_055441 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] VAR_055442 commonName VAR_055442 VAR_055442 disease phenotype-associated VAR_055442 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] VAR_055444 commonName VAR_055444 VAR_055444 disease phenotype-associated VAR_055444 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] VAR_055445 commonName VAR_055445 VAR_055445 disease phenotype-associated VAR_055445 phenoCommon Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650] VAR_055447 commonName VAR_055447 VAR_055447 disease phenotype-associated VAR_055447 phenoCommon Diamond-Blackfan anemia type 5 (DBA5) [MIM:612528] VAR_055448 commonName VAR_055448 VAR_055448 disease phenotype-associated VAR_055448 phenoCommon Diamond-Blackfan anemia type 7 (DBA7) [MIM:612562] VAR_055450 commonName VAR_055450 VAR_055450 disease phenotype-associated VAR_055450 phenoCommon Diamond-Blackfan anemia type 6 (DBA6) [MIM:612561] VAR_055452 commonName VAR_055452 VAR_055452 disease not phenotype-associated VAR_055453 commonName VAR_055453 VAR_055453 disease not phenotype-associated VAR_055454 comment A glioma sample VAR_055454 commonName VAR_055454 VAR_055455 comment A glioma sample VAR_055455 commonName VAR_055455 VAR_055456 comment A glioma sample VAR_055456 commonName VAR_055456 VAR_055457 comment A glioma sample VAR_055457 commonName VAR_055457 VAR_055458 commonName VAR_055458 VAR_055458 disease not phenotype-associated VAR_055459 commonName VAR_055459 VAR_055459 disease not phenotype-associated VAR_055460 commonName VAR_055460 VAR_055460 disease not phenotype-associated VAR_055461 commonName VAR_055461 VAR_055461 disease not phenotype-associated VAR_055462 commonName VAR_055462 VAR_055462 disease not phenotype-associated VAR_055463 commonName VAR_055463 VAR_055463 disease not phenotype-associated VAR_055467 commonName VAR_055467 VAR_055467 disease not phenotype-associated VAR_055468 commonName VAR_055468 VAR_055468 disease not phenotype-associated VAR_055469 commonName VAR_055469 VAR_055469 disease not phenotype-associated VAR_055470 commonName VAR_055470 VAR_055470 disease not phenotype-associated VAR_055471 commonName VAR_055471 VAR_055471 disease not phenotype-associated VAR_055472 commonName VAR_055472 VAR_055472 disease not phenotype-associated VAR_055473 commonName VAR_055473 VAR_055473 disease not phenotype-associated VAR_055474 commonName VAR_055474 VAR_055474 disease not phenotype-associated VAR_055475 commonName VAR_055475 VAR_055475 disease not phenotype-associated VAR_055476 commonName VAR_055476 VAR_055476 disease not phenotype-associated VAR_055477 commonName VAR_055477 VAR_055477 disease not phenotype-associated VAR_055478 commonName VAR_055478 VAR_055478 disease not phenotype-associated VAR_055479 commonName VAR_055479 VAR_055479 disease not phenotype-associated VAR_055480 commonName VAR_055480 VAR_055480 disease not phenotype-associated VAR_055481 commonName VAR_055481 VAR_055481 disease not phenotype-associated VAR_055482 commonName VAR_055482 VAR_055482 disease not phenotype-associated VAR_055483 commonName VAR_055483 VAR_055483 disease not phenotype-associated VAR_055484 commonName VAR_055484 VAR_055484 disease not phenotype-associated VAR_055485 commonName VAR_055485 VAR_055485 disease not phenotype-associated VAR_055486 commonName VAR_055486 VAR_055486 disease not phenotype-associated VAR_055487 commonName VAR_055487 VAR_055487 disease not phenotype-associated VAR_055488 commonName VAR_055488 VAR_055488 disease not phenotype-associated VAR_055489 commonName VAR_055489 VAR_055489 disease not phenotype-associated VAR_055490 commonName VAR_055490 VAR_055490 disease not phenotype-associated VAR_055491 commonName VAR_055491 VAR_055491 disease not phenotype-associated VAR_055492 commonName VAR_055492 VAR_055492 disease not phenotype-associated VAR_055493 commonName VAR_055493 VAR_055493 disease not phenotype-associated VAR_055494 commonName VAR_055494 VAR_055494 disease not phenotype-associated VAR_055495 commonName VAR_055495 VAR_055495 disease not phenotype-associated VAR_055496 commonName VAR_055496 VAR_055496 disease not phenotype-associated VAR_055500 commonName VAR_055500 VAR_055500 disease not phenotype-associated VAR_055501 commonName VAR_055501 VAR_055501 disease not phenotype-associated VAR_055502 commonName VAR_055502 VAR_055502 disease not phenotype-associated VAR_055503 commonName VAR_055503 VAR_055503 disease not phenotype-associated VAR_055506 commonName VAR_055506 VAR_055506 disease not phenotype-associated VAR_055507 commonName VAR_055507 VAR_055507 disease not phenotype-associated VAR_055508 commonName VAR_055508 VAR_055508 disease not phenotype-associated VAR_055509 commonName VAR_055509 VAR_055509 disease not phenotype-associated VAR_055510 commonName VAR_055510 VAR_055510 disease not phenotype-associated VAR_055513 commonName VAR_055513 VAR_055513 disease not phenotype-associated VAR_055514 commonName VAR_055514 VAR_055514 disease not phenotype-associated VAR_055515 commonName VAR_055515 VAR_055515 disease not phenotype-associated VAR_055517 commonName VAR_055517 VAR_055517 disease not phenotype-associated VAR_055518 commonName VAR_055518 VAR_055518 disease not phenotype-associated VAR_055519 commonName VAR_055519 VAR_055519 disease not phenotype-associated VAR_055520 commonName VAR_055520 VAR_055520 disease not phenotype-associated VAR_055521 commonName VAR_055521 VAR_055521 disease not phenotype-associated VAR_055522 commonName VAR_055522 VAR_055522 disease not phenotype-associated VAR_055523 commonName VAR_055523 VAR_055523 disease not phenotype-associated VAR_055524 commonName VAR_055524 VAR_055524 disease not phenotype-associated VAR_055525 commonName VAR_055525 VAR_055525 disease not phenotype-associated VAR_055526 commonName VAR_055526 VAR_055526 disease not phenotype-associated VAR_055527 commonName VAR_055527 VAR_055527 disease not phenotype-associated VAR_055528 commonName VAR_055528 VAR_055528 disease not phenotype-associated VAR_055529 commonName VAR_055529 VAR_055529 disease not phenotype-associated VAR_055530 commonName VAR_055530 VAR_055530 disease not phenotype-associated VAR_055531 commonName VAR_055531 VAR_055531 disease not phenotype-associated VAR_055533 commonName VAR_055533 VAR_055533 disease not phenotype-associated VAR_055534 commonName VAR_055534 VAR_055534 disease not phenotype-associated VAR_055535 commonName VAR_055535 VAR_055535 disease not phenotype-associated VAR_055536 commonName VAR_055536 VAR_055536 disease not phenotype-associated VAR_055537 commonName VAR_055537 VAR_055537 disease not phenotype-associated VAR_055538 commonName VAR_055538 VAR_055538 disease not phenotype-associated VAR_055539 commonName VAR_055539 VAR_055539 disease not phenotype-associated VAR_055540 commonName VAR_055540 VAR_055540 disease not phenotype-associated VAR_055541 commonName VAR_055541 VAR_055541 disease not phenotype-associated VAR_055542 commonName VAR_055542 VAR_055542 disease not phenotype-associated VAR_055544 commonName VAR_055544 VAR_055544 disease not phenotype-associated VAR_055545 commonName VAR_055545 VAR_055545 disease not phenotype-associated VAR_055546 commonName VAR_055546 VAR_055546 disease not phenotype-associated VAR_055547 commonName VAR_055547 VAR_055547 disease not phenotype-associated VAR_055548 commonName VAR_055548 VAR_055548 disease not phenotype-associated VAR_055549 commonName VAR_055549 VAR_055549 disease not phenotype-associated VAR_055550 commonName VAR_055550 VAR_055550 disease not phenotype-associated VAR_055551 commonName VAR_055551 VAR_055551 disease not phenotype-associated VAR_055552 commonName VAR_055552 VAR_055552 disease not phenotype-associated VAR_055553 commonName VAR_055553 VAR_055553 disease not phenotype-associated VAR_055554 commonName VAR_055554 VAR_055554 disease not phenotype-associated VAR_055555 commonName VAR_055555 VAR_055555 disease not phenotype-associated VAR_055556 commonName VAR_055556 VAR_055556 disease not phenotype-associated VAR_055557 commonName VAR_055557 VAR_055557 disease not phenotype-associated VAR_055558 commonName VAR_055558 VAR_055558 disease not phenotype-associated VAR_055559 commonName VAR_055559 VAR_055559 disease not phenotype-associated VAR_055560 commonName VAR_055560 VAR_055560 disease not phenotype-associated VAR_055562 commonName VAR_055562 VAR_055562 disease not phenotype-associated VAR_055564 commonName VAR_055564 VAR_055564 disease not phenotype-associated VAR_055565 commonName VAR_055565 VAR_055565 disease not phenotype-associated VAR_055567 commonName VAR_055567 VAR_055567 disease not phenotype-associated VAR_055568 commonName VAR_055568 VAR_055568 disease not phenotype-associated VAR_055569 commonName VAR_055569 VAR_055569 disease not phenotype-associated VAR_055573 commonName VAR_055573 VAR_055573 disease not phenotype-associated VAR_055574 commonName VAR_055574 VAR_055574 disease not phenotype-associated VAR_055575 commonName VAR_055575 VAR_055575 disease not phenotype-associated VAR_055576 commonName VAR_055576 VAR_055576 disease not phenotype-associated VAR_055577 commonName VAR_055577 VAR_055577 disease not phenotype-associated VAR_055578 commonName VAR_055578 VAR_055578 disease not phenotype-associated VAR_055579 commonName VAR_055579 VAR_055579 disease not phenotype-associated VAR_055580 commonName VAR_055580 VAR_055580 disease not phenotype-associated VAR_055581 commonName VAR_055581 VAR_055581 disease not phenotype-associated VAR_055582 commonName VAR_055582 VAR_055582 disease not phenotype-associated VAR_055583 commonName VAR_055583 VAR_055583 disease not phenotype-associated VAR_055584 commonName VAR_055584 VAR_055584 disease not phenotype-associated VAR_055585 commonName VAR_055585 VAR_055585 disease not phenotype-associated VAR_055586 commonName VAR_055586 VAR_055586 disease not phenotype-associated VAR_055587 commonName VAR_055587 VAR_055587 disease not phenotype-associated VAR_055588 commonName VAR_055588 VAR_055588 disease not phenotype-associated VAR_055589 commonName VAR_055589 VAR_055589 disease not phenotype-associated VAR_055590 commonName VAR_055590 VAR_055590 disease not phenotype-associated VAR_055591 commonName VAR_055591 VAR_055591 disease not phenotype-associated VAR_055592 commonName VAR_055592 VAR_055592 disease not phenotype-associated VAR_055593 commonName VAR_055593 VAR_055593 disease not phenotype-associated VAR_055594 commonName VAR_055594 VAR_055594 disease not phenotype-associated VAR_055595 commonName VAR_055595 VAR_055595 disease not phenotype-associated VAR_055596 commonName VAR_055596 VAR_055596 disease not phenotype-associated VAR_055597 commonName VAR_055597 VAR_055597 disease not phenotype-associated VAR_055598 commonName VAR_055598 VAR_055598 disease not phenotype-associated VAR_055599 commonName VAR_055599 VAR_055599 disease not phenotype-associated VAR_055600 commonName VAR_055600 VAR_055600 disease not phenotype-associated VAR_055601 commonName VAR_055601 VAR_055601 disease not phenotype-associated VAR_055602 commonName VAR_055602 VAR_055602 disease not phenotype-associated VAR_055603 commonName VAR_055603 VAR_055603 disease not phenotype-associated VAR_055604 commonName VAR_055604 VAR_055604 disease not phenotype-associated VAR_055605 commonName VAR_055605 VAR_055605 disease not phenotype-associated VAR_055606 commonName VAR_055606 VAR_055606 disease not phenotype-associated VAR_055607 commonName VAR_055607 VAR_055607 disease not phenotype-associated VAR_055608 commonName VAR_055608 VAR_055608 disease not phenotype-associated VAR_055609 commonName VAR_055609 VAR_055609 disease not phenotype-associated VAR_055610 commonName VAR_055610 VAR_055610 disease not phenotype-associated VAR_055611 commonName VAR_055611 VAR_055611 disease not phenotype-associated VAR_055612 commonName VAR_055612 VAR_055612 disease not phenotype-associated VAR_055613 commonName VAR_055613 VAR_055613 disease not phenotype-associated VAR_055614 commonName VAR_055614 VAR_055614 disease not phenotype-associated VAR_055615 commonName VAR_055615 VAR_055615 disease not phenotype-associated VAR_055616 commonName VAR_055616 VAR_055616 disease not phenotype-associated VAR_055617 commonName VAR_055617 VAR_055617 disease not phenotype-associated VAR_055618 commonName VAR_055618 VAR_055618 disease not phenotype-associated VAR_055619 commonName VAR_055619 VAR_055619 disease not phenotype-associated VAR_055620 commonName VAR_055620 VAR_055620 disease not phenotype-associated VAR_055621 commonName VAR_055621 VAR_055621 disease not phenotype-associated VAR_055622 commonName VAR_055622 VAR_055622 disease not phenotype-associated VAR_055632 commonName VAR_055632 VAR_055632 disease not phenotype-associated VAR_055633 commonName VAR_055633 VAR_055633 disease not phenotype-associated VAR_055634 commonName VAR_055634 VAR_055634 disease not phenotype-associated VAR_055635 commonName VAR_055635 VAR_055635 disease not phenotype-associated VAR_055636 commonName VAR_055636 VAR_055636 disease not phenotype-associated VAR_055638 commonName VAR_055638 VAR_055638 disease not phenotype-associated VAR_055641 commonName VAR_055641 VAR_055641 disease not phenotype-associated VAR_055642 commonName VAR_055642 VAR_055642 disease not phenotype-associated VAR_055643 commonName VAR_055643 VAR_055643 disease not phenotype-associated VAR_055644 commonName VAR_055644 VAR_055644 disease not phenotype-associated VAR_055645 commonName VAR_055645 VAR_055645 disease not phenotype-associated VAR_055647 commonName VAR_055647 VAR_055647 disease not phenotype-associated VAR_055648 commonName VAR_055648 VAR_055648 disease not phenotype-associated VAR_055649 commonName VAR_055649 VAR_055649 disease not phenotype-associated VAR_055650 commonName VAR_055650 VAR_055650 disease not phenotype-associated VAR_055652 commonName VAR_055652 VAR_055652 disease not phenotype-associated VAR_055653 commonName VAR_055653 VAR_055653 disease not phenotype-associated VAR_055654 commonName VAR_055654 VAR_055654 disease not phenotype-associated VAR_055655 commonName VAR_055655 VAR_055655 disease not phenotype-associated VAR_055656 commonName VAR_055656 VAR_055656 disease not phenotype-associated VAR_055657 commonName VAR_055657 VAR_055657 disease not phenotype-associated VAR_055658 commonName VAR_055658 VAR_055658 disease not phenotype-associated VAR_055659 commonName VAR_055659 VAR_055659 disease not phenotype-associated VAR_055661 commonName VAR_055661 VAR_055661 disease not phenotype-associated VAR_055662 commonName VAR_055662 VAR_055662 disease not phenotype-associated VAR_055664 commonName VAR_055664 VAR_055664 disease not phenotype-associated VAR_055665 commonName VAR_055665 VAR_055665 disease not phenotype-associated VAR_055666 commonName VAR_055666 VAR_055666 disease not phenotype-associated VAR_055667 commonName VAR_055667 VAR_055667 disease not phenotype-associated VAR_055668 commonName VAR_055668 VAR_055668 disease not phenotype-associated VAR_055669 commonName VAR_055669 VAR_055669 disease not phenotype-associated VAR_055670 commonName VAR_055670 VAR_055670 disease not phenotype-associated VAR_055671 commonName VAR_055671 VAR_055671 disease not phenotype-associated VAR_055672 commonName VAR_055672 VAR_055672 disease not phenotype-associated VAR_055673 commonName VAR_055673 VAR_055673 disease not phenotype-associated VAR_055674 commonName VAR_055674 VAR_055674 disease not phenotype-associated VAR_055675 commonName VAR_055675 VAR_055675 disease not phenotype-associated VAR_055676 commonName VAR_055676 VAR_055676 disease not phenotype-associated VAR_055677 commonName VAR_055677 VAR_055677 disease not phenotype-associated VAR_055678 commonName VAR_055678 VAR_055678 disease not phenotype-associated VAR_055679 commonName VAR_055679 VAR_055679 disease not phenotype-associated VAR_055680 commonName VAR_055680 VAR_055680 disease not phenotype-associated VAR_055681 commonName VAR_055681 VAR_055681 disease not phenotype-associated VAR_055682 commonName VAR_055682 VAR_055682 disease not phenotype-associated VAR_055683 commonName VAR_055683 VAR_055683 disease not phenotype-associated VAR_055684 commonName VAR_055684 VAR_055684 disease not phenotype-associated VAR_055685 commonName VAR_055685 VAR_055685 disease not phenotype-associated VAR_055686 commonName VAR_055686 VAR_055686 disease not phenotype-associated VAR_055687 commonName VAR_055687 VAR_055687 disease not phenotype-associated VAR_055688 commonName VAR_055688 VAR_055688 disease not phenotype-associated VAR_055689 commonName VAR_055689 VAR_055689 disease not phenotype-associated VAR_055690 commonName VAR_055690 VAR_055690 disease not phenotype-associated VAR_055691 commonName VAR_055691 VAR_055691 disease not phenotype-associated VAR_055692 commonName VAR_055692 VAR_055692 disease not phenotype-associated VAR_055693 commonName VAR_055693 VAR_055693 disease not phenotype-associated VAR_055694 commonName VAR_055694 VAR_055694 disease not phenotype-associated VAR_055695 commonName VAR_055695 VAR_055695 disease not phenotype-associated VAR_055696 commonName VAR_055696 VAR_055696 disease not phenotype-associated VAR_055697 commonName VAR_055697 VAR_055697 disease not phenotype-associated VAR_055698 commonName VAR_055698 VAR_055698 disease not phenotype-associated VAR_055699 commonName VAR_055699 VAR_055699 disease not phenotype-associated VAR_055700 commonName VAR_055700 VAR_055700 disease not phenotype-associated VAR_055701 commonName VAR_055701 VAR_055701 disease not phenotype-associated VAR_055702 commonName VAR_055702 VAR_055702 disease not phenotype-associated VAR_055703 commonName VAR_055703 VAR_055703 disease not phenotype-associated VAR_055704 commonName VAR_055704 VAR_055704 disease not phenotype-associated VAR_055706 commonName VAR_055706 VAR_055706 disease not phenotype-associated VAR_055707 commonName VAR_055707 VAR_055707 disease not phenotype-associated VAR_055708 commonName VAR_055708 VAR_055708 disease not phenotype-associated VAR_055709 commonName VAR_055709 VAR_055709 disease not phenotype-associated VAR_055710 commonName VAR_055710 VAR_055710 disease not phenotype-associated VAR_055711 commonName VAR_055711 VAR_055711 disease not phenotype-associated VAR_055712 commonName VAR_055712 VAR_055712 disease not phenotype-associated VAR_055714 commonName VAR_055714 VAR_055714 disease not phenotype-associated VAR_055715 commonName VAR_055715 VAR_055715 disease not phenotype-associated VAR_055716 commonName VAR_055716 VAR_055716 disease not phenotype-associated VAR_055717 commonName VAR_055717 VAR_055717 disease not phenotype-associated VAR_055718 commonName VAR_055718 VAR_055718 disease not phenotype-associated VAR_055719 commonName VAR_055719 VAR_055719 disease not phenotype-associated VAR_055720 commonName VAR_055720 VAR_055720 disease not phenotype-associated VAR_055722 commonName VAR_055722 VAR_055722 disease not phenotype-associated VAR_055736 commonName VAR_055736 VAR_055736 disease not phenotype-associated VAR_055737 commonName VAR_055737 VAR_055737 disease not phenotype-associated VAR_055738 commonName VAR_055738 VAR_055738 disease not phenotype-associated VAR_055739 commonName VAR_055739 VAR_055739 disease not phenotype-associated VAR_055740 commonName VAR_055740 VAR_055740 disease not phenotype-associated VAR_055741 commonName VAR_055741 VAR_055741 disease not phenotype-associated VAR_055742 commonName VAR_055742 VAR_055742 disease not phenotype-associated VAR_055743 commonName VAR_055743 VAR_055743 disease not phenotype-associated VAR_055744 commonName VAR_055744 VAR_055744 disease not phenotype-associated VAR_055745 commonName VAR_055745 VAR_055745 disease not phenotype-associated VAR_055746 commonName VAR_055746 VAR_055746 disease not phenotype-associated VAR_055747 commonName VAR_055747 VAR_055747 disease not phenotype-associated VAR_055748 commonName VAR_055748 VAR_055748 disease not phenotype-associated VAR_055749 commonName VAR_055749 VAR_055749 disease not phenotype-associated VAR_055750 commonName VAR_055750 VAR_055750 disease not phenotype-associated VAR_055751 commonName VAR_055751 VAR_055751 disease not phenotype-associated VAR_055752 commonName VAR_055752 VAR_055752 disease not phenotype-associated VAR_055753 commonName VAR_055753 VAR_055753 disease not phenotype-associated VAR_055754 commonName VAR_055754 VAR_055754 disease not phenotype-associated VAR_055755 commonName VAR_055755 VAR_055755 disease not phenotype-associated VAR_055756 commonName VAR_055756 VAR_055756 disease not phenotype-associated VAR_055757 commonName VAR_055757 VAR_055757 disease not phenotype-associated VAR_055760 commonName VAR_055760 VAR_055760 disease not phenotype-associated VAR_055761 commonName VAR_055761 VAR_055761 disease not phenotype-associated VAR_055762 commonName VAR_055762 VAR_055762 disease not phenotype-associated VAR_055763 commonName VAR_055763 VAR_055763 disease not phenotype-associated VAR_055764 commonName VAR_055764 VAR_055764 disease not phenotype-associated VAR_055765 commonName VAR_055765 VAR_055765 disease not phenotype-associated VAR_055766 commonName VAR_055766 VAR_055766 disease not phenotype-associated VAR_055767 commonName VAR_055767 VAR_055767 disease not phenotype-associated VAR_055768 commonName VAR_055768 VAR_055768 disease not phenotype-associated VAR_055769 commonName VAR_055769 VAR_055769 disease not phenotype-associated VAR_055770 commonName VAR_055770 VAR_055770 disease not phenotype-associated VAR_055771 commonName VAR_055771 VAR_055771 disease not phenotype-associated VAR_055772 commonName VAR_055772 VAR_055772 disease not phenotype-associated VAR_055773 commonName VAR_055773 VAR_055773 disease not phenotype-associated VAR_055774 commonName VAR_055774 VAR_055774 disease not phenotype-associated VAR_055775 commonName VAR_055775 VAR_055775 disease not phenotype-associated VAR_055778 commonName VAR_055778 VAR_055778 disease not phenotype-associated VAR_055779 commonName VAR_055779 VAR_055779 disease not phenotype-associated VAR_055780 commonName VAR_055780 VAR_055780 disease not phenotype-associated VAR_055785 commonName VAR_055785 VAR_055785 disease not phenotype-associated VAR_055786 commonName VAR_055786 VAR_055786 disease not phenotype-associated VAR_055787 commonName VAR_055787 VAR_055787 disease not phenotype-associated VAR_055788 commonName VAR_055788 VAR_055788 disease not phenotype-associated VAR_055789 commonName VAR_055789 VAR_055789 disease not phenotype-associated VAR_055790 commonName VAR_055790 VAR_055790 disease not phenotype-associated VAR_055791 commonName VAR_055791 VAR_055791 disease not phenotype-associated VAR_055792 commonName VAR_055792 VAR_055792 disease not phenotype-associated VAR_055793 commonName VAR_055793 VAR_055793 disease not phenotype-associated VAR_055794 commonName VAR_055794 VAR_055794 disease not phenotype-associated VAR_055795 commonName VAR_055795 VAR_055795 disease not phenotype-associated VAR_055796 commonName VAR_055796 VAR_055796 disease not phenotype-associated VAR_055797 commonName VAR_055797 VAR_055797 disease not phenotype-associated VAR_055798 commonName VAR_055798 VAR_055798 disease not phenotype-associated VAR_055799 commonName VAR_055799 VAR_055799 disease not phenotype-associated VAR_055801 commonName VAR_055801 VAR_055801 disease not phenotype-associated VAR_055803 commonName VAR_055803 VAR_055803 disease not phenotype-associated VAR_055804 commonName VAR_055804 VAR_055804 disease not phenotype-associated VAR_055805 commonName VAR_055805 VAR_055805 disease not phenotype-associated VAR_055806 commonName VAR_055806 VAR_055806 disease not phenotype-associated VAR_055819 commonName VAR_055819 VAR_055819 disease not phenotype-associated VAR_055822 commonName VAR_055822 VAR_055822 disease not phenotype-associated VAR_055823 commonName VAR_055823 VAR_055823 disease not phenotype-associated VAR_055824 commonName VAR_055824 VAR_055824 disease not phenotype-associated VAR_055825 commonName VAR_055825 VAR_055825 disease not phenotype-associated VAR_055826 commonName VAR_055826 VAR_055826 disease not phenotype-associated VAR_055827 commonName VAR_055827 VAR_055827 disease not phenotype-associated VAR_055828 commonName VAR_055828 VAR_055828 disease not phenotype-associated VAR_055829 commonName VAR_055829 VAR_055829 disease not phenotype-associated VAR_055830 commonName VAR_055830 VAR_055830 disease not phenotype-associated VAR_055831 commonName VAR_055831 VAR_055831 disease not phenotype-associated VAR_055832 commonName VAR_055832 VAR_055832 disease not phenotype-associated VAR_055833 commonName VAR_055833 VAR_055833 disease not phenotype-associated VAR_055835 commonName VAR_055835 VAR_055835 disease not phenotype-associated VAR_055836 commonName VAR_055836 VAR_055836 disease not phenotype-associated VAR_055837 commonName VAR_055837 VAR_055837 disease not phenotype-associated VAR_055839 commonName VAR_055839 VAR_055839 disease not phenotype-associated VAR_055840 commonName VAR_055840 VAR_055840 disease not phenotype-associated VAR_055841 commonName VAR_055841 VAR_055841 disease not phenotype-associated VAR_055844 commonName VAR_055844 VAR_055844 disease not phenotype-associated VAR_055845 commonName VAR_055845 VAR_055845 disease not phenotype-associated VAR_055846 commonName VAR_055846 VAR_055846 disease not phenotype-associated VAR_055847 commonName VAR_055847 VAR_055847 disease not phenotype-associated VAR_055848 commonName VAR_055848 VAR_055848 disease not phenotype-associated VAR_055849 commonName VAR_055849 VAR_055849 disease not phenotype-associated VAR_055850 commonName VAR_055850 VAR_055850 disease not phenotype-associated VAR_055851 commonName VAR_055851 VAR_055851 disease not phenotype-associated VAR_055852 commonName VAR_055852 VAR_055852 disease not phenotype-associated VAR_055853 commonName VAR_055853 VAR_055853 disease not phenotype-associated VAR_055854 commonName VAR_055854 VAR_055854 disease not phenotype-associated VAR_055855 commonName VAR_055855 VAR_055855 disease not phenotype-associated VAR_055856 commonName VAR_055856 VAR_055856 disease not phenotype-associated VAR_055857 commonName VAR_055857 VAR_055857 disease not phenotype-associated VAR_055858 commonName VAR_055858 VAR_055858 disease not phenotype-associated VAR_055859 commonName VAR_055859 VAR_055859 disease not phenotype-associated VAR_055860 commonName VAR_055860 VAR_055860 disease not phenotype-associated VAR_055861 commonName VAR_055861 VAR_055861 disease not phenotype-associated VAR_055862 commonName VAR_055862 VAR_055862 disease not phenotype-associated VAR_055863 commonName VAR_055863 VAR_055863 disease not phenotype-associated VAR_055864 commonName VAR_055864 VAR_055864 disease not phenotype-associated VAR_055865 commonName VAR_055865 VAR_055865 disease not phenotype-associated VAR_055866 commonName VAR_055866 VAR_055866 disease not phenotype-associated VAR_055867 commonName VAR_055867 VAR_055867 disease not phenotype-associated VAR_055868 commonName VAR_055868 VAR_055868 disease not phenotype-associated VAR_055869 commonName VAR_055869 VAR_055869 disease not phenotype-associated VAR_055870 commonName VAR_055870 VAR_055870 disease not phenotype-associated VAR_055871 commonName VAR_055871 VAR_055871 disease not phenotype-associated VAR_055875 commonName VAR_055875 VAR_055875 disease not phenotype-associated VAR_055876 commonName VAR_055876 VAR_055876 disease not phenotype-associated VAR_055877 commonName VAR_055877 VAR_055877 disease not phenotype-associated VAR_055878 commonName VAR_055878 VAR_055878 disease not phenotype-associated VAR_055879 commonName VAR_055879 VAR_055879 disease not phenotype-associated VAR_055880 commonName VAR_055880 VAR_055880 disease not phenotype-associated VAR_055881 commonName VAR_055881 VAR_055881 disease not phenotype-associated VAR_055882 commonName VAR_055882 VAR_055882 disease not phenotype-associated VAR_055883 commonName VAR_055883 VAR_055883 disease not phenotype-associated VAR_055884 commonName VAR_055884 VAR_055884 disease not phenotype-associated VAR_055885 commonName VAR_055885 VAR_055885 disease not phenotype-associated VAR_055886 commonName VAR_055886 VAR_055886 disease not phenotype-associated VAR_055887 commonName VAR_055887 VAR_055887 disease not phenotype-associated VAR_055892 commonName VAR_055892 VAR_055892 disease not phenotype-associated VAR_055893 commonName VAR_055893 VAR_055893 disease not phenotype-associated VAR_055894 commonName VAR_055894 VAR_055894 disease not phenotype-associated VAR_055895 commonName VAR_055895 VAR_055895 disease not phenotype-associated VAR_055896 commonName VAR_055896 VAR_055896 disease not phenotype-associated VAR_055897 commonName VAR_055897 VAR_055897 disease not phenotype-associated VAR_055898 commonName VAR_055898 VAR_055898 disease not phenotype-associated VAR_055899 commonName VAR_055899 VAR_055899 disease not phenotype-associated VAR_055900 commonName VAR_055900 VAR_055900 disease not phenotype-associated VAR_055902 commonName VAR_055902 VAR_055902 disease not phenotype-associated VAR_055903 commonName VAR_055903 VAR_055903 disease not phenotype-associated VAR_055904 commonName VAR_055904 VAR_055904 disease not phenotype-associated VAR_055905 commonName VAR_055905 VAR_055905 disease not phenotype-associated VAR_055908 commonName VAR_055908 VAR_055908 disease not phenotype-associated VAR_055909 commonName VAR_055909 VAR_055909 disease not phenotype-associated VAR_055910 commonName VAR_055910 VAR_055910 disease not phenotype-associated VAR_055911 commonName VAR_055911 VAR_055911 disease not phenotype-associated VAR_055912 commonName VAR_055912 VAR_055912 disease not phenotype-associated VAR_055913 commonName VAR_055913 VAR_055913 disease not phenotype-associated VAR_055914 commonName VAR_055914 VAR_055914 disease not phenotype-associated VAR_055915 commonName VAR_055915 VAR_055915 disease not phenotype-associated VAR_055916 commonName VAR_055916 VAR_055916 disease not phenotype-associated VAR_055917 commonName VAR_055917 VAR_055917 disease not phenotype-associated VAR_055918 commonName VAR_055918 VAR_055918 disease not phenotype-associated VAR_055919 commonName VAR_055919 VAR_055919 disease not phenotype-associated VAR_055920 commonName VAR_055920 VAR_055920 disease not phenotype-associated VAR_055921 commonName VAR_055921 VAR_055921 disease not phenotype-associated VAR_055922 commonName VAR_055922 VAR_055922 disease not phenotype-associated VAR_055923 commonName VAR_055923 VAR_055923 disease not phenotype-associated VAR_055924 commonName VAR_055924 VAR_055924 disease not phenotype-associated VAR_055925 commonName VAR_055925 VAR_055925 disease not phenotype-associated VAR_055926 commonName VAR_055926 VAR_055926 disease not phenotype-associated VAR_055927 commonName VAR_055927 VAR_055927 disease not phenotype-associated VAR_055929 commonName VAR_055929 VAR_055929 disease not phenotype-associated VAR_055930 commonName VAR_055930 VAR_055930 disease not phenotype-associated VAR_055931 commonName VAR_055931 VAR_055931 disease not phenotype-associated VAR_055932 commonName VAR_055932 VAR_055932 disease not phenotype-associated VAR_055933 commonName VAR_055933 VAR_055933 disease not phenotype-associated VAR_055934 commonName VAR_055934 VAR_055934 disease not phenotype-associated VAR_055935 commonName VAR_055935 VAR_055935 disease not phenotype-associated VAR_055936 commonName VAR_055936 VAR_055936 disease not phenotype-associated VAR_055937 commonName VAR_055937 VAR_055937 disease not phenotype-associated VAR_055938 commonName VAR_055938 VAR_055938 disease not phenotype-associated VAR_055939 commonName VAR_055939 VAR_055939 disease not phenotype-associated VAR_055940 commonName VAR_055940 VAR_055940 disease not phenotype-associated VAR_055941 commonName VAR_055941 VAR_055941 disease not phenotype-associated VAR_055942 commonName VAR_055942 VAR_055942 disease not phenotype-associated VAR_055943 commonName VAR_055943 VAR_055943 disease not phenotype-associated VAR_055944 commonName VAR_055944 VAR_055944 disease not phenotype-associated VAR_055945 commonName VAR_055945 VAR_055945 disease not phenotype-associated VAR_055946 commonName VAR_055946 VAR_055946 disease not phenotype-associated VAR_055947 commonName VAR_055947 VAR_055947 disease not phenotype-associated VAR_055948 commonName VAR_055948 VAR_055948 disease not phenotype-associated VAR_055949 commonName VAR_055949 VAR_055949 disease not phenotype-associated VAR_055950 commonName VAR_055950 VAR_055950 disease not phenotype-associated VAR_055952 commonName VAR_055952 VAR_055952 disease not phenotype-associated VAR_055953 commonName VAR_055953 VAR_055953 disease not phenotype-associated VAR_055954 commonName VAR_055954 VAR_055954 disease not phenotype-associated VAR_055955 commonName VAR_055955 VAR_055955 disease not phenotype-associated VAR_055956 commonName VAR_055956 VAR_055956 disease not phenotype-associated VAR_055957 commonName VAR_055957 VAR_055957 disease not phenotype-associated VAR_055959 commonName VAR_055959 VAR_055959 disease not phenotype-associated VAR_055960 commonName VAR_055960 VAR_055960 disease not phenotype-associated VAR_055961 commonName VAR_055961 VAR_055961 disease not phenotype-associated VAR_055962 commonName VAR_055962 VAR_055962 disease not phenotype-associated VAR_055963 commonName VAR_055963 VAR_055963 disease not phenotype-associated VAR_055964 commonName VAR_055964 VAR_055964 disease not phenotype-associated VAR_055965 commonName VAR_055965 VAR_055965 disease not phenotype-associated VAR_055966 commonName VAR_055966 VAR_055966 disease not phenotype-associated VAR_055967 commonName VAR_055967 VAR_055967 disease not phenotype-associated VAR_055968 commonName VAR_055968 VAR_055968 disease not phenotype-associated VAR_055969 commonName VAR_055969 VAR_055969 disease not phenotype-associated VAR_055970 commonName VAR_055970 VAR_055970 disease not phenotype-associated VAR_055971 commonName VAR_055971 VAR_055971 disease not phenotype-associated VAR_055973 commonName VAR_055973 VAR_055973 disease not phenotype-associated VAR_055974 commonName VAR_055974 VAR_055974 disease not phenotype-associated VAR_055975 commonName VAR_055975 VAR_055975 disease not phenotype-associated VAR_055976 commonName VAR_055976 VAR_055976 disease not phenotype-associated VAR_055977 commonName VAR_055977 VAR_055977 disease not phenotype-associated VAR_055979 commonName VAR_055979 VAR_055979 disease not phenotype-associated VAR_055980 commonName VAR_055980 VAR_055980 disease not phenotype-associated VAR_055981 commonName VAR_055981 VAR_055981 disease not phenotype-associated VAR_055983 commonName VAR_055983 VAR_055983 disease not phenotype-associated VAR_055984 commonName VAR_055984 VAR_055984 disease not phenotype-associated VAR_055985 commonName VAR_055985 VAR_055985 disease not phenotype-associated VAR_055987 commonName VAR_055987 VAR_055987 disease not phenotype-associated VAR_055988 commonName VAR_055988 VAR_055988 disease not phenotype-associated VAR_055989 commonName VAR_055989 VAR_055989 disease not phenotype-associated VAR_055990 commonName VAR_055990 VAR_055990 disease not phenotype-associated VAR_055991 commonName VAR_055991 VAR_055991 disease not phenotype-associated VAR_055992 commonName VAR_055992 VAR_055992 disease not phenotype-associated VAR_055993 commonName VAR_055993 VAR_055993 disease not phenotype-associated VAR_055994 commonName VAR_055994 VAR_055994 disease not phenotype-associated VAR_055995 commonName VAR_055995 VAR_055995 disease not phenotype-associated VAR_055996 commonName VAR_055996 VAR_055996 disease not phenotype-associated VAR_055998 commonName VAR_055998 VAR_055998 disease not phenotype-associated VAR_055999 commonName VAR_055999 VAR_055999 disease not phenotype-associated VAR_056000 commonName VAR_056000 VAR_056000 disease not phenotype-associated VAR_056001 commonName VAR_056001 VAR_056001 disease not phenotype-associated VAR_056002 commonName VAR_056002 VAR_056002 disease not phenotype-associated VAR_056003 commonName VAR_056003 VAR_056003 disease not phenotype-associated VAR_056004 commonName VAR_056004 VAR_056004 disease not phenotype-associated VAR_056005 commonName VAR_056005 VAR_056005 disease not phenotype-associated VAR_056006 commonName VAR_056006 VAR_056006 disease not phenotype-associated VAR_056007 commonName VAR_056007 VAR_056007 disease not phenotype-associated VAR_056008 commonName VAR_056008 VAR_056008 disease not phenotype-associated VAR_056009 commonName VAR_056009 VAR_056009 disease not phenotype-associated VAR_056010 commonName VAR_056010 VAR_056010 disease not phenotype-associated VAR_056011 commonName VAR_056011 VAR_056011 disease not phenotype-associated VAR_056012 commonName VAR_056012 VAR_056012 disease not phenotype-associated VAR_056013 commonName VAR_056013 VAR_056013 disease not phenotype-associated VAR_056014 commonName VAR_056014 VAR_056014 disease not phenotype-associated VAR_056015 commonName VAR_056015 VAR_056015 disease not phenotype-associated VAR_056016 commonName VAR_056016 VAR_056016 disease not phenotype-associated VAR_056017 commonName VAR_056017 VAR_056017 disease not phenotype-associated VAR_056018 commonName VAR_056018 VAR_056018 disease not phenotype-associated VAR_056019 commonName VAR_056019 VAR_056019 disease not phenotype-associated VAR_056020 commonName VAR_056020 VAR_056020 disease not phenotype-associated VAR_056021 commonName VAR_056021 VAR_056021 disease not phenotype-associated VAR_056022 commonName VAR_056022 VAR_056022 disease not phenotype-associated VAR_056023 commonName VAR_056023 VAR_056023 disease not phenotype-associated VAR_056027 commonName VAR_056027 VAR_056027 disease not phenotype-associated VAR_056028 commonName VAR_056028 VAR_056028 disease not phenotype-associated VAR_056029 commonName VAR_056029 VAR_056029 disease not phenotype-associated VAR_056030 commonName VAR_056030 VAR_056030 disease not phenotype-associated VAR_056031 commonName VAR_056031 VAR_056031 disease not phenotype-associated VAR_056032 commonName VAR_056032 VAR_056032 disease not phenotype-associated VAR_056033 commonName VAR_056033 VAR_056033 disease not phenotype-associated VAR_056034 commonName VAR_056034 VAR_056034 disease not phenotype-associated VAR_056035 commonName VAR_056035 VAR_056035 disease not phenotype-associated VAR_056036 commonName VAR_056036 VAR_056036 disease not phenotype-associated VAR_056037 commonName VAR_056037 VAR_056037 disease not phenotype-associated VAR_056038 commonName VAR_056038 VAR_056038 disease not phenotype-associated VAR_056039 commonName VAR_056039 VAR_056039 disease not phenotype-associated VAR_056040 commonName VAR_056040 VAR_056040 disease not phenotype-associated VAR_056041 commonName VAR_056041 VAR_056041 disease not phenotype-associated VAR_056042 commonName VAR_056042 VAR_056042 disease not phenotype-associated VAR_056043 commonName VAR_056043 VAR_056043 disease not phenotype-associated VAR_056044 commonName VAR_056044 VAR_056044 disease not phenotype-associated VAR_056045 commonName VAR_056045 VAR_056045 disease not phenotype-associated VAR_056046 commonName VAR_056046 VAR_056046 disease not phenotype-associated VAR_056047 commonName VAR_056047 VAR_056047 disease not phenotype-associated VAR_056048 commonName VAR_056048 VAR_056048 disease not phenotype-associated VAR_056049 commonName VAR_056049 VAR_056049 disease not phenotype-associated VAR_056051 commonName VAR_056051 VAR_056051 disease not phenotype-associated VAR_056052 commonName VAR_056052 VAR_056052 disease not phenotype-associated VAR_056053 commonName VAR_056053 VAR_056053 disease not phenotype-associated VAR_056054 commonName VAR_056054 VAR_056054 disease not phenotype-associated VAR_056055 commonName VAR_056055 VAR_056055 disease not phenotype-associated VAR_056057 commonName VAR_056057 VAR_056057 disease not phenotype-associated VAR_056058 commonName VAR_056058 VAR_056058 disease not phenotype-associated VAR_056059 commonName VAR_056059 VAR_056059 disease not phenotype-associated VAR_056060 commonName VAR_056060 VAR_056060 disease not phenotype-associated VAR_056061 commonName VAR_056061 VAR_056061 disease not phenotype-associated VAR_056062 commonName VAR_056062 VAR_056062 disease not phenotype-associated VAR_056063 commonName VAR_056063 VAR_056063 disease not phenotype-associated VAR_056064 commonName VAR_056064 VAR_056064 disease not phenotype-associated VAR_056065 commonName VAR_056065 VAR_056065 disease not phenotype-associated VAR_056066 commonName VAR_056066 VAR_056066 disease not phenotype-associated VAR_056067 commonName VAR_056067 VAR_056067 disease not phenotype-associated VAR_056068 commonName VAR_056068 VAR_056068 disease not phenotype-associated VAR_056069 commonName VAR_056069 VAR_056069 disease not phenotype-associated VAR_056070 commonName VAR_056070 VAR_056070 disease not phenotype-associated VAR_056071 commonName VAR_056071 VAR_056071 disease not phenotype-associated VAR_056072 commonName VAR_056072 VAR_056072 disease not phenotype-associated VAR_056073 commonName VAR_056073 VAR_056073 disease not phenotype-associated VAR_056074 commonName VAR_056074 VAR_056074 disease not phenotype-associated VAR_056075 commonName VAR_056075 VAR_056075 disease not phenotype-associated VAR_056076 commonName VAR_056076 VAR_056076 disease not phenotype-associated VAR_056077 commonName VAR_056077 VAR_056077 disease not phenotype-associated VAR_056078 commonName VAR_056078 VAR_056078 disease not phenotype-associated VAR_056079 commonName VAR_056079 VAR_056079 disease not phenotype-associated VAR_056080 commonName VAR_056080 VAR_056080 disease not phenotype-associated VAR_056090 commonName VAR_056090 VAR_056090 disease not phenotype-associated VAR_056092 commonName VAR_056092 VAR_056092 disease not phenotype-associated VAR_056098 commonName VAR_056098 VAR_056098 disease not phenotype-associated VAR_056099 commonName VAR_056099 VAR_056099 disease not phenotype-associated VAR_056100 commonName VAR_056100 VAR_056100 disease not phenotype-associated VAR_056101 commonName VAR_056101 VAR_056101 disease not phenotype-associated VAR_056102 commonName VAR_056102 VAR_056102 disease not phenotype-associated VAR_056103 commonName VAR_056103 VAR_056103 disease not phenotype-associated VAR_056104 commonName VAR_056104 VAR_056104 disease not phenotype-associated VAR_056105 commonName VAR_056105 VAR_056105 disease not phenotype-associated VAR_056106 commonName VAR_056106 VAR_056106 disease not phenotype-associated VAR_056107 commonName VAR_056107 VAR_056107 disease not phenotype-associated VAR_056108 commonName VAR_056108 VAR_056108 disease not phenotype-associated VAR_056109 commonName VAR_056109 VAR_056109 disease not phenotype-associated VAR_056111 commonName VAR_056111 VAR_056111 disease not phenotype-associated VAR_056112 commonName VAR_056112 VAR_056112 disease not phenotype-associated VAR_056113 commonName VAR_056113 VAR_056113 disease not phenotype-associated VAR_056115 commonName VAR_056115 VAR_056115 disease not phenotype-associated VAR_056116 commonName VAR_056116 VAR_056116 disease not phenotype-associated VAR_056117 commonName VAR_056117 VAR_056117 disease not phenotype-associated VAR_056118 commonName VAR_056118 VAR_056118 disease not phenotype-associated VAR_056119 commonName VAR_056119 VAR_056119 disease not phenotype-associated VAR_056120 commonName VAR_056120 VAR_056120 disease not phenotype-associated VAR_056122 commonName VAR_056122 VAR_056122 disease not phenotype-associated VAR_056123 commonName VAR_056123 VAR_056123 disease not phenotype-associated VAR_056124 commonName VAR_056124 VAR_056124 disease not phenotype-associated VAR_056125 commonName VAR_056125 VAR_056125 disease not phenotype-associated VAR_056126 commonName VAR_056126 VAR_056126 disease not phenotype-associated VAR_056127 commonName VAR_056127 VAR_056127 disease not phenotype-associated VAR_056128 commonName VAR_056128 VAR_056128 disease not phenotype-associated VAR_056132 commonName VAR_056132 VAR_056132 disease not phenotype-associated VAR_056133 commonName VAR_056133 VAR_056133 disease not phenotype-associated VAR_056134 commonName VAR_056134 VAR_056134 disease not phenotype-associated VAR_056135 commonName VAR_056135 VAR_056135 disease not phenotype-associated VAR_056136 commonName VAR_056136 VAR_056136 disease not phenotype-associated VAR_056137 commonName VAR_056137 VAR_056137 disease not phenotype-associated VAR_056138 commonName VAR_056138 VAR_056138 disease not phenotype-associated VAR_056140 commonName VAR_056140 VAR_056140 disease not phenotype-associated VAR_056141 commonName VAR_056141 VAR_056141 disease not phenotype-associated VAR_056142 commonName VAR_056142 VAR_056142 disease not phenotype-associated VAR_056143 commonName VAR_056143 VAR_056143 disease not phenotype-associated VAR_056144 commonName VAR_056144 VAR_056144 disease not phenotype-associated VAR_056145 commonName VAR_056145 VAR_056145 disease not phenotype-associated VAR_056146 commonName VAR_056146 VAR_056146 disease not phenotype-associated VAR_056147 commonName VAR_056147 VAR_056147 disease not phenotype-associated VAR_056148 commonName VAR_056148 VAR_056148 disease not phenotype-associated VAR_056149 commonName VAR_056149 VAR_056149 disease not phenotype-associated VAR_056150 commonName VAR_056150 VAR_056150 disease not phenotype-associated VAR_056151 commonName VAR_056151 VAR_056151 disease not phenotype-associated VAR_056156 commonName VAR_056156 VAR_056156 disease not phenotype-associated VAR_056157 commonName VAR_056157 VAR_056157 disease not phenotype-associated VAR_056158 commonName VAR_056158 VAR_056158 disease not phenotype-associated VAR_056159 commonName VAR_056159 VAR_056159 disease not phenotype-associated VAR_056160 commonName VAR_056160 VAR_056160 disease not phenotype-associated VAR_056161 commonName VAR_056161 VAR_056161 disease not phenotype-associated VAR_056162 commonName VAR_056162 VAR_056162 disease not phenotype-associated VAR_056164 commonName VAR_056164 VAR_056164 disease not phenotype-associated VAR_056166 commonName VAR_056166 VAR_056166 disease not phenotype-associated VAR_056167 commonName VAR_056167 VAR_056167 disease not phenotype-associated VAR_056168 commonName VAR_056168 VAR_056168 disease not phenotype-associated VAR_056169 commonName VAR_056169 VAR_056169 disease not phenotype-associated VAR_056170 commonName VAR_056170 VAR_056170 disease not phenotype-associated VAR_056171 commonName VAR_056171 VAR_056171 disease not phenotype-associated VAR_056172 commonName VAR_056172 VAR_056172 disease not phenotype-associated VAR_056173 commonName VAR_056173 VAR_056173 disease not phenotype-associated VAR_056174 commonName VAR_056174 VAR_056174 disease not phenotype-associated VAR_056175 commonName VAR_056175 VAR_056175 disease not phenotype-associated VAR_056176 commonName VAR_056176 VAR_056176 disease not phenotype-associated VAR_056177 commonName VAR_056177 VAR_056177 disease not phenotype-associated VAR_056178 commonName VAR_056178 VAR_056178 disease not phenotype-associated VAR_056179 commonName VAR_056179 VAR_056179 disease not phenotype-associated VAR_056180 commonName VAR_056180 VAR_056180 disease not phenotype-associated VAR_056181 commonName VAR_056181 VAR_056181 disease not phenotype-associated VAR_056182 commonName VAR_056182 VAR_056182 disease not phenotype-associated VAR_056183 commonName VAR_056183 VAR_056183 disease not phenotype-associated VAR_056184 commonName VAR_056184 VAR_056184 disease not phenotype-associated VAR_056185 commonName VAR_056185 VAR_056185 disease not phenotype-associated VAR_056186 commonName VAR_056186 VAR_056186 disease not phenotype-associated VAR_056187 commonName VAR_056187 VAR_056187 disease not phenotype-associated VAR_056188 commonName VAR_056188 VAR_056188 disease not phenotype-associated VAR_056189 commonName VAR_056189 VAR_056189 disease not phenotype-associated VAR_056190 commonName VAR_056190 VAR_056190 disease not phenotype-associated VAR_056191 commonName VAR_056191 VAR_056191 disease not phenotype-associated VAR_056192 commonName VAR_056192 VAR_056192 disease not phenotype-associated VAR_056193 commonName VAR_056193 VAR_056193 disease not phenotype-associated VAR_056194 commonName VAR_056194 VAR_056194 disease not phenotype-associated VAR_056195 commonName VAR_056195 VAR_056195 disease not phenotype-associated VAR_056196 commonName VAR_056196 VAR_056196 disease not phenotype-associated VAR_056197 commonName VAR_056197 VAR_056197 disease not phenotype-associated VAR_056198 commonName VAR_056198 VAR_056198 disease not phenotype-associated VAR_056203 commonName VAR_056203 VAR_056203 disease not phenotype-associated VAR_056204 commonName VAR_056204 VAR_056204 disease not phenotype-associated VAR_056205 commonName VAR_056205 VAR_056205 disease not phenotype-associated VAR_056206 commonName VAR_056206 VAR_056206 disease not phenotype-associated VAR_056207 commonName VAR_056207 VAR_056207 disease not phenotype-associated VAR_056208 commonName VAR_056208 VAR_056208 disease not phenotype-associated VAR_056209 commonName VAR_056209 VAR_056209 disease not phenotype-associated VAR_056210 commonName VAR_056210 VAR_056210 disease not phenotype-associated VAR_056211 commonName VAR_056211 VAR_056211 disease not phenotype-associated VAR_056212 commonName VAR_056212 VAR_056212 disease not phenotype-associated VAR_056213 commonName VAR_056213 VAR_056213 disease not phenotype-associated VAR_056214 commonName VAR_056214 VAR_056214 disease not phenotype-associated VAR_056215 commonName VAR_056215 VAR_056215 disease not phenotype-associated VAR_056216 commonName VAR_056216 VAR_056216 disease not phenotype-associated VAR_056217 commonName VAR_056217 VAR_056217 disease not phenotype-associated VAR_056218 commonName VAR_056218 VAR_056218 disease not phenotype-associated VAR_056219 commonName VAR_056219 VAR_056219 disease not phenotype-associated VAR_056220 commonName VAR_056220 VAR_056220 disease not phenotype-associated VAR_056221 commonName VAR_056221 VAR_056221 disease not phenotype-associated VAR_056222 commonName VAR_056222 VAR_056222 disease not phenotype-associated VAR_056223 commonName VAR_056223 VAR_056223 disease not phenotype-associated VAR_056224 commonName VAR_056224 VAR_056224 disease not phenotype-associated VAR_056225 commonName VAR_056225 VAR_056225 disease not phenotype-associated VAR_056226 commonName VAR_056226 VAR_056226 disease not phenotype-associated VAR_056227 commonName VAR_056227 VAR_056227 disease not phenotype-associated VAR_056228 commonName VAR_056228 VAR_056228 disease not phenotype-associated VAR_056229 commonName VAR_056229 VAR_056229 disease not phenotype-associated VAR_056230 commonName VAR_056230 VAR_056230 disease not phenotype-associated VAR_056231 commonName VAR_056231 VAR_056231 disease not phenotype-associated VAR_056232 commonName VAR_056232 VAR_056232 disease not phenotype-associated VAR_056233 commonName VAR_056233 VAR_056233 disease not phenotype-associated VAR_056234 commonName VAR_056234 VAR_056234 disease not phenotype-associated VAR_056235 commonName VAR_056235 VAR_056235 disease not phenotype-associated VAR_056236 commonName VAR_056236 VAR_056236 disease not phenotype-associated VAR_056237 commonName VAR_056237 VAR_056237 disease not phenotype-associated VAR_056238 commonName VAR_056238 VAR_056238 disease not phenotype-associated VAR_056239 commonName VAR_056239 VAR_056239 disease not phenotype-associated VAR_056240 commonName VAR_056240 VAR_056240 disease not phenotype-associated VAR_056241 commonName VAR_056241 VAR_056241 disease not phenotype-associated VAR_056242 commonName VAR_056242 VAR_056242 disease not phenotype-associated VAR_056243 commonName VAR_056243 VAR_056243 disease not phenotype-associated VAR_056244 commonName VAR_056244 VAR_056244 disease not phenotype-associated VAR_056245 commonName VAR_056245 VAR_056245 disease not phenotype-associated VAR_056575 commonName VAR_056575 VAR_056575 disease not phenotype-associated VAR_056578 commonName VAR_056578 VAR_056578 disease not phenotype-associated VAR_056579 commonName VAR_056579 VAR_056579 disease not phenotype-associated VAR_056580 commonName VAR_056580 VAR_056580 disease not phenotype-associated VAR_056581 commonName VAR_056581 VAR_056581 disease not phenotype-associated VAR_056582 commonName VAR_056582 VAR_056582 disease not phenotype-associated VAR_056583 commonName VAR_056583 VAR_056583 disease not phenotype-associated VAR_056584 commonName VAR_056584 VAR_056584 disease not phenotype-associated VAR_056588 commonName VAR_056588 VAR_056588 disease not phenotype-associated VAR_056589 commonName VAR_056589 VAR_056589 disease not phenotype-associated VAR_056590 commonName VAR_056590 VAR_056590 disease not phenotype-associated VAR_056591 commonName VAR_056591 VAR_056591 disease not phenotype-associated VAR_056642 commonName VAR_056642 VAR_056642 disease not phenotype-associated VAR_056643 commonName VAR_056643 VAR_056643 disease not phenotype-associated VAR_056644 commonName VAR_056644 VAR_056644 disease not phenotype-associated VAR_056645 commonName VAR_056645 VAR_056645 disease not phenotype-associated VAR_056646 commonName VAR_056646 VAR_056646 disease not phenotype-associated VAR_056647 commonName VAR_056647 VAR_056647 disease not phenotype-associated VAR_056648 commonName VAR_056648 VAR_056648 disease not phenotype-associated VAR_056649 commonName VAR_056649 VAR_056649 disease not phenotype-associated VAR_056650 commonName VAR_056650 VAR_056650 disease not phenotype-associated VAR_056651 commonName VAR_056651 VAR_056651 disease not phenotype-associated VAR_056654 commonName VAR_056654 VAR_056654 disease not phenotype-associated VAR_056655 commonName VAR_056655 VAR_056655 disease not phenotype-associated VAR_056656 commonName VAR_056656 VAR_056656 disease not phenotype-associated VAR_056657 commonName VAR_056657 VAR_056657 disease not phenotype-associated VAR_056658 commonName VAR_056658 VAR_056658 disease not phenotype-associated VAR_056661 commonName VAR_056661 VAR_056661 disease not phenotype-associated VAR_056663 commonName VAR_056663 VAR_056663 disease not phenotype-associated VAR_056664 commonName VAR_056664 VAR_056664 disease not phenotype-associated VAR_056665 commonName VAR_056665 VAR_056665 disease not phenotype-associated VAR_056666 commonName VAR_056666 VAR_056666 disease not phenotype-associated VAR_056667 commonName VAR_056667 VAR_056667 disease not phenotype-associated VAR_056668 commonName VAR_056668 VAR_056668 disease not phenotype-associated VAR_056669 commonName VAR_056669 VAR_056669 disease not phenotype-associated VAR_056670 commonName VAR_056670 VAR_056670 disease not phenotype-associated VAR_056671 commonName VAR_056671 VAR_056671 disease not phenotype-associated VAR_056672 commonName VAR_056672 VAR_056672 disease not phenotype-associated VAR_056673 commonName VAR_056673 VAR_056673 disease not phenotype-associated VAR_056674 commonName VAR_056674 VAR_056674 disease not phenotype-associated VAR_056675 commonName VAR_056675 VAR_056675 disease not phenotype-associated VAR_056676 commonName VAR_056676 VAR_056676 disease not phenotype-associated VAR_056677 commonName VAR_056677 VAR_056677 disease not phenotype-associated VAR_056678 commonName VAR_056678 VAR_056678 disease not phenotype-associated VAR_056679 commonName VAR_056679 VAR_056679 disease not phenotype-associated VAR_056680 commonName VAR_056680 VAR_056680 disease not phenotype-associated VAR_056681 commonName VAR_056681 VAR_056681 disease not phenotype-associated VAR_056682 commonName VAR_056682 VAR_056682 disease not phenotype-associated VAR_056683 commonName VAR_056683 VAR_056683 disease not phenotype-associated VAR_056684 commonName VAR_056684 VAR_056684 disease not phenotype-associated VAR_056685 commonName VAR_056685 VAR_056685 disease not phenotype-associated VAR_056686 commonName VAR_056686 VAR_056686 disease not phenotype-associated VAR_056693 commonName VAR_056693 VAR_056693 disease not phenotype-associated VAR_056694 commonName VAR_056694 VAR_056694 disease not phenotype-associated VAR_056695 commonName VAR_056695 VAR_056695 disease not phenotype-associated VAR_056696 commonName VAR_056696 VAR_056696 disease not phenotype-associated VAR_056697 commonName VAR_056697 VAR_056697 disease phenotype-associated VAR_056697 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_056698 commonName VAR_056698 VAR_056698 disease not phenotype-associated VAR_056699 commonName VAR_056699 VAR_056699 disease not phenotype-associated VAR_056700 commonName VAR_056700 VAR_056700 disease not phenotype-associated VAR_056701 commonName VAR_056701 VAR_056701 disease not phenotype-associated VAR_056702 commonName VAR_056702 VAR_056702 disease not phenotype-associated VAR_056703 commonName VAR_056703 VAR_056703 disease not phenotype-associated VAR_056704 commonName VAR_056704 VAR_056704 disease not phenotype-associated VAR_056705 commonName VAR_056705 VAR_056705 disease not phenotype-associated VAR_056706 commonName VAR_056706 VAR_056706 disease not phenotype-associated VAR_056707 commonName VAR_056707 VAR_056707 disease not phenotype-associated VAR_056708 commonName VAR_056708 VAR_056708 disease not phenotype-associated VAR_056709 commonName VAR_056709 VAR_056709 disease not phenotype-associated VAR_056710 commonName VAR_056710 VAR_056710 disease not phenotype-associated VAR_056711 commonName VAR_056711 VAR_056711 disease not phenotype-associated VAR_056712 commonName VAR_056712 VAR_056712 disease not phenotype-associated VAR_056713 commonName VAR_056713 VAR_056713 disease not phenotype-associated VAR_056714 commonName VAR_056714 VAR_056714 disease not phenotype-associated VAR_056715 commonName VAR_056715 VAR_056715 disease not phenotype-associated VAR_056716 commonName VAR_056716 VAR_056716 disease not phenotype-associated VAR_056717 commonName VAR_056717 VAR_056717 disease not phenotype-associated VAR_056718 commonName VAR_056718 VAR_056718 disease not phenotype-associated VAR_056719 commonName VAR_056719 VAR_056719 disease not phenotype-associated VAR_056720 commonName VAR_056720 VAR_056720 disease not phenotype-associated VAR_056722 commonName VAR_056722 VAR_056722 disease not phenotype-associated VAR_056723 commonName VAR_056723 VAR_056723 disease not phenotype-associated VAR_056724 commonName VAR_056724 VAR_056724 disease not phenotype-associated VAR_056725 commonName VAR_056725 VAR_056725 disease not phenotype-associated VAR_056726 commonName VAR_056726 VAR_056726 disease not phenotype-associated VAR_056727 commonName VAR_056727 VAR_056727 disease not phenotype-associated VAR_056728 commonName VAR_056728 VAR_056728 disease not phenotype-associated VAR_056729 commonName VAR_056729 VAR_056729 disease not phenotype-associated VAR_056730 commonName VAR_056730 VAR_056730 disease not phenotype-associated VAR_056731 commonName VAR_056731 VAR_056731 disease not phenotype-associated VAR_056732 commonName VAR_056732 VAR_056732 disease not phenotype-associated VAR_056733 commonName VAR_056733 VAR_056733 disease not phenotype-associated VAR_056734 commonName VAR_056734 VAR_056734 disease not phenotype-associated VAR_056739 commonName VAR_056739 VAR_056739 disease not phenotype-associated VAR_056740 commonName VAR_056740 VAR_056740 disease not phenotype-associated VAR_056743 commonName VAR_056743 VAR_056743 disease not phenotype-associated VAR_056744 commonName VAR_056744 VAR_056744 disease not phenotype-associated VAR_056745 commonName VAR_056745 VAR_056745 disease not phenotype-associated VAR_056746 commonName VAR_056746 VAR_056746 disease not phenotype-associated VAR_056747 commonName VAR_056747 VAR_056747 disease not phenotype-associated VAR_056748 commonName VAR_056748 VAR_056748 disease not phenotype-associated VAR_056749 commonName VAR_056749 VAR_056749 disease not phenotype-associated VAR_056750 commonName VAR_056750 VAR_056750 disease not phenotype-associated VAR_056751 commonName VAR_056751 VAR_056751 disease not phenotype-associated VAR_056752 commonName VAR_056752 VAR_056752 disease not phenotype-associated VAR_056753 commonName VAR_056753 VAR_056753 disease not phenotype-associated VAR_056754 commonName VAR_056754 VAR_056754 disease not phenotype-associated VAR_056755 commonName VAR_056755 VAR_056755 disease not phenotype-associated VAR_056756 commonName VAR_056756 VAR_056756 disease not phenotype-associated VAR_056757 commonName VAR_056757 VAR_056757 disease not phenotype-associated VAR_056758 commonName VAR_056758 VAR_056758 disease not phenotype-associated VAR_056759 commonName VAR_056759 VAR_056759 disease not phenotype-associated VAR_056760 commonName VAR_056760 VAR_056760 disease not phenotype-associated VAR_056761 commonName VAR_056761 VAR_056761 disease not phenotype-associated VAR_056762 commonName VAR_056762 VAR_056762 disease not phenotype-associated VAR_056764 commonName VAR_056764 VAR_056764 disease not phenotype-associated VAR_056765 commonName VAR_056765 VAR_056765 disease not phenotype-associated VAR_056766 commonName VAR_056766 VAR_056766 disease not phenotype-associated VAR_056767 commonName VAR_056767 VAR_056767 disease not phenotype-associated VAR_056769 commonName VAR_056769 VAR_056769 disease not phenotype-associated VAR_056770 commonName VAR_056770 VAR_056770 disease not phenotype-associated VAR_056771 commonName VAR_056771 VAR_056771 disease not phenotype-associated VAR_056772 commonName VAR_056772 VAR_056772 disease not phenotype-associated VAR_056773 commonName VAR_056773 VAR_056773 disease not phenotype-associated VAR_056774 commonName VAR_056774 VAR_056774 disease not phenotype-associated VAR_056775 commonName VAR_056775 VAR_056775 disease not phenotype-associated VAR_056776 commonName VAR_056776 VAR_056776 disease not phenotype-associated VAR_056777 commonName VAR_056777 VAR_056777 disease not phenotype-associated VAR_056778 commonName VAR_056778 VAR_056778 disease not phenotype-associated VAR_056779 commonName VAR_056779 VAR_056779 disease not phenotype-associated VAR_056780 commonName VAR_056780 VAR_056780 disease not phenotype-associated VAR_056781 commonName VAR_056781 VAR_056781 disease not phenotype-associated VAR_056782 commonName VAR_056782 VAR_056782 disease not phenotype-associated VAR_056784 commonName VAR_056784 VAR_056784 disease not phenotype-associated VAR_056785 commonName VAR_056785 VAR_056785 disease not phenotype-associated VAR_056786 commonName VAR_056786 VAR_056786 disease not phenotype-associated VAR_056787 commonName VAR_056787 VAR_056787 disease not phenotype-associated VAR_056788 commonName VAR_056788 VAR_056788 disease not phenotype-associated VAR_056789 commonName VAR_056789 VAR_056789 disease not phenotype-associated VAR_056790 commonName VAR_056790 VAR_056790 disease not phenotype-associated VAR_056791 commonName VAR_056791 VAR_056791 disease not phenotype-associated VAR_056792 commonName VAR_056792 VAR_056792 disease not phenotype-associated VAR_056799 commonName VAR_056799 VAR_056799 disease not phenotype-associated VAR_056800 commonName VAR_056800 VAR_056800 disease not phenotype-associated VAR_056801 commonName VAR_056801 VAR_056801 disease not phenotype-associated VAR_056802 commonName VAR_056802 VAR_056802 disease not phenotype-associated VAR_056803 commonName VAR_056803 VAR_056803 disease not phenotype-associated VAR_056804 commonName VAR_056804 VAR_056804 disease not phenotype-associated VAR_056805 commonName VAR_056805 VAR_056805 disease not phenotype-associated VAR_056806 commonName VAR_056806 VAR_056806 disease not phenotype-associated VAR_056808 commonName VAR_056808 VAR_056808 disease not phenotype-associated VAR_056809 commonName VAR_056809 VAR_056809 disease not phenotype-associated VAR_056810 commonName VAR_056810 VAR_056810 disease not phenotype-associated VAR_056811 commonName VAR_056811 VAR_056811 disease not phenotype-associated VAR_056812 commonName VAR_056812 VAR_056812 disease not phenotype-associated VAR_056813 commonName VAR_056813 VAR_056813 disease not phenotype-associated VAR_056814 commonName VAR_056814 VAR_056814 disease not phenotype-associated VAR_056817 commonName VAR_056817 VAR_056817 disease not phenotype-associated VAR_056818 commonName VAR_056818 VAR_056818 disease not phenotype-associated VAR_056819 commonName VAR_056819 VAR_056819 disease not phenotype-associated VAR_056820 commonName VAR_056820 VAR_056820 disease not phenotype-associated VAR_056827 commonName VAR_056827 VAR_056827 disease not phenotype-associated VAR_056828 commonName VAR_056828 VAR_056828 disease not phenotype-associated VAR_056829 commonName VAR_056829 VAR_056829 disease not phenotype-associated VAR_056830 commonName VAR_056830 VAR_056830 disease not phenotype-associated VAR_056831 commonName VAR_056831 VAR_056831 disease not phenotype-associated VAR_056833 commonName VAR_056833 VAR_056833 disease not phenotype-associated VAR_056834 commonName VAR_056834 VAR_056834 disease not phenotype-associated VAR_056835 commonName VAR_056835 VAR_056835 disease not phenotype-associated VAR_056836 commonName VAR_056836 VAR_056836 disease not phenotype-associated VAR_056837 commonName VAR_056837 VAR_056837 disease not phenotype-associated VAR_056838 commonName VAR_056838 VAR_056838 disease not phenotype-associated VAR_056839 commonName VAR_056839 VAR_056839 disease not phenotype-associated VAR_056840 commonName VAR_056840 VAR_056840 disease not phenotype-associated VAR_056841 commonName VAR_056841 VAR_056841 disease not phenotype-associated VAR_056842 commonName VAR_056842 VAR_056842 disease not phenotype-associated VAR_056843 commonName VAR_056843 VAR_056843 disease not phenotype-associated VAR_056844 commonName VAR_056844 VAR_056844 disease not phenotype-associated VAR_056845 commonName VAR_056845 VAR_056845 disease not phenotype-associated VAR_056847 commonName VAR_056847 VAR_056847 disease not phenotype-associated VAR_056849 commonName VAR_056849 VAR_056849 disease not phenotype-associated VAR_056850 commonName VAR_056850 VAR_056850 disease not phenotype-associated VAR_056851 commonName VAR_056851 VAR_056851 disease not phenotype-associated VAR_056852 commonName VAR_056852 VAR_056852 disease not phenotype-associated VAR_056853 commonName VAR_056853 VAR_056853 disease not phenotype-associated VAR_056854 commonName VAR_056854 VAR_056854 disease not phenotype-associated VAR_056855 commonName VAR_056855 VAR_056855 disease not phenotype-associated VAR_056856 commonName VAR_056856 VAR_056856 disease not phenotype-associated VAR_056857 commonName VAR_056857 VAR_056857 disease not phenotype-associated VAR_056858 commonName VAR_056858 VAR_056858 disease not phenotype-associated VAR_056859 commonName VAR_056859 VAR_056859 disease not phenotype-associated VAR_056860 commonName VAR_056860 VAR_056860 disease not phenotype-associated VAR_056861 commonName VAR_056861 VAR_056861 disease not phenotype-associated VAR_056862 commonName VAR_056862 VAR_056862 disease not phenotype-associated VAR_056863 commonName VAR_056863 VAR_056863 disease not phenotype-associated VAR_056864 commonName VAR_056864 VAR_056864 disease not phenotype-associated VAR_056865 commonName VAR_056865 VAR_056865 disease not phenotype-associated VAR_056866 commonName VAR_056866 VAR_056866 disease not phenotype-associated VAR_056867 commonName VAR_056867 VAR_056867 disease not phenotype-associated VAR_056868 commonName VAR_056868 VAR_056868 disease not phenotype-associated VAR_056870 commonName VAR_056870 VAR_056870 disease not phenotype-associated VAR_056871 commonName VAR_056871 VAR_056871 disease not phenotype-associated VAR_056872 commonName VAR_056872 VAR_056872 disease not phenotype-associated VAR_056873 commonName VAR_056873 VAR_056873 disease not phenotype-associated VAR_056874 commonName VAR_056874 VAR_056874 disease not phenotype-associated VAR_056875 commonName VAR_056875 VAR_056875 disease not phenotype-associated VAR_056876 commonName VAR_056876 VAR_056876 disease not phenotype-associated VAR_056877 commonName VAR_056877 VAR_056877 disease not phenotype-associated VAR_056878 commonName VAR_056878 VAR_056878 disease not phenotype-associated VAR_056879 commonName VAR_056879 VAR_056879 disease not phenotype-associated VAR_056880 commonName VAR_056880 VAR_056880 disease not phenotype-associated VAR_056881 commonName VAR_056881 VAR_056881 disease not phenotype-associated VAR_056882 commonName VAR_056882 VAR_056882 disease not phenotype-associated VAR_056883 commonName VAR_056883 VAR_056883 disease not phenotype-associated VAR_056891 commonName VAR_056891 VAR_056891 disease not phenotype-associated VAR_056892 commonName VAR_056892 VAR_056892 disease not phenotype-associated VAR_056893 commonName VAR_056893 VAR_056893 disease not phenotype-associated VAR_056894 commonName VAR_056894 VAR_056894 disease not phenotype-associated VAR_056895 commonName VAR_056895 VAR_056895 disease not phenotype-associated VAR_056896 commonName VAR_056896 VAR_056896 disease not phenotype-associated VAR_056897 commonName VAR_056897 VAR_056897 disease not phenotype-associated VAR_056898 commonName VAR_056898 VAR_056898 disease not phenotype-associated VAR_056899 commonName VAR_056899 VAR_056899 disease not phenotype-associated VAR_056900 commonName VAR_056900 VAR_056900 disease not phenotype-associated VAR_056901 commonName VAR_056901 VAR_056901 disease not phenotype-associated VAR_056902 commonName VAR_056902 VAR_056902 disease not phenotype-associated VAR_056903 commonName VAR_056903 VAR_056903 disease not phenotype-associated VAR_056905 commonName VAR_056905 VAR_056905 disease not phenotype-associated VAR_056906 commonName VAR_056906 VAR_056906 disease not phenotype-associated VAR_056907 commonName VAR_056907 VAR_056907 disease not phenotype-associated VAR_056908 commonName VAR_056908 VAR_056908 disease not phenotype-associated VAR_056909 commonName VAR_056909 VAR_056909 disease not phenotype-associated VAR_056910 commonName VAR_056910 VAR_056910 disease not phenotype-associated VAR_056911 commonName VAR_056911 VAR_056911 disease not phenotype-associated VAR_056912 commonName VAR_056912 VAR_056912 disease not phenotype-associated VAR_056913 commonName VAR_056913 VAR_056913 disease not phenotype-associated VAR_056914 commonName VAR_056914 VAR_056914 disease not phenotype-associated VAR_056915 commonName VAR_056915 VAR_056915 disease not phenotype-associated VAR_056916 commonName VAR_056916 VAR_056916 disease not phenotype-associated VAR_056917 commonName VAR_056917 VAR_056917 disease not phenotype-associated VAR_056918 commonName VAR_056918 VAR_056918 disease not phenotype-associated VAR_056919 commonName VAR_056919 VAR_056919 disease not phenotype-associated VAR_056920 commonName VAR_056920 VAR_056920 disease not phenotype-associated VAR_056922 commonName VAR_056922 VAR_056922 disease not phenotype-associated VAR_056923 commonName VAR_056923 VAR_056923 disease not phenotype-associated VAR_056924 commonName VAR_056924 VAR_056924 disease not phenotype-associated VAR_056925 commonName VAR_056925 VAR_056925 disease not phenotype-associated VAR_056926 commonName VAR_056926 VAR_056926 disease not phenotype-associated VAR_056927 commonName VAR_056927 VAR_056927 disease not phenotype-associated VAR_056930 commonName VAR_056930 VAR_056930 disease not phenotype-associated VAR_056932 commonName VAR_056932 VAR_056932 disease not phenotype-associated VAR_056933 commonName VAR_056933 VAR_056933 disease not phenotype-associated VAR_056935 commonName VAR_056935 VAR_056935 disease not phenotype-associated VAR_056936 commonName VAR_056936 VAR_056936 disease not phenotype-associated VAR_056937 commonName VAR_056937 VAR_056937 disease not phenotype-associated VAR_056938 commonName VAR_056938 VAR_056938 disease not phenotype-associated VAR_056939 commonName VAR_056939 VAR_056939 disease not phenotype-associated VAR_056940 commonName VAR_056940 VAR_056940 disease not phenotype-associated VAR_056941 commonName VAR_056941 VAR_056941 disease not phenotype-associated VAR_056942 commonName VAR_056942 VAR_056942 disease not phenotype-associated VAR_056943 commonName VAR_056943 VAR_056943 disease not phenotype-associated VAR_056944 commonName VAR_056944 VAR_056944 disease not phenotype-associated VAR_056945 commonName VAR_056945 VAR_056945 disease not phenotype-associated VAR_056946 commonName VAR_056946 VAR_056946 disease not phenotype-associated VAR_056947 commonName VAR_056947 VAR_056947 disease not phenotype-associated VAR_056948 commonName VAR_056948 VAR_056948 disease not phenotype-associated VAR_056951 commonName VAR_056951 VAR_056951 disease not phenotype-associated VAR_056952 commonName VAR_056952 VAR_056952 disease not phenotype-associated VAR_056953 commonName VAR_056953 VAR_056953 disease not phenotype-associated VAR_056954 commonName VAR_056954 VAR_056954 disease not phenotype-associated VAR_056955 commonName VAR_056955 VAR_056955 disease not phenotype-associated VAR_056956 commonName VAR_056956 VAR_056956 disease not phenotype-associated VAR_056958 commonName VAR_056958 VAR_056958 disease not phenotype-associated VAR_056961 commonName VAR_056961 VAR_056961 disease not phenotype-associated VAR_056962 commonName VAR_056962 VAR_056962 disease not phenotype-associated VAR_056963 commonName VAR_056963 VAR_056963 disease not phenotype-associated VAR_056964 commonName VAR_056964 VAR_056964 disease not phenotype-associated VAR_056965 commonName VAR_056965 VAR_056965 disease not phenotype-associated VAR_056966 commonName VAR_056966 VAR_056966 disease not phenotype-associated VAR_056967 commonName VAR_056967 VAR_056967 disease not phenotype-associated VAR_056968 commonName VAR_056968 VAR_056968 disease not phenotype-associated VAR_056969 commonName VAR_056969 VAR_056969 disease not phenotype-associated VAR_056970 commonName VAR_056970 VAR_056970 disease not phenotype-associated VAR_056971 commonName VAR_056971 VAR_056971 disease not phenotype-associated VAR_056972 commonName VAR_056972 VAR_056972 disease not phenotype-associated VAR_056973 commonName VAR_056973 VAR_056973 disease not phenotype-associated VAR_056974 commonName VAR_056974 VAR_056974 disease not phenotype-associated VAR_056975 commonName VAR_056975 VAR_056975 disease not phenotype-associated VAR_056976 commonName VAR_056976 VAR_056976 disease not phenotype-associated VAR_056977 commonName VAR_056977 VAR_056977 disease not phenotype-associated VAR_056978 commonName VAR_056978 VAR_056978 disease not phenotype-associated VAR_056983 commonName VAR_056983 VAR_056983 disease not phenotype-associated VAR_056986 commonName VAR_056986 VAR_056986 disease not phenotype-associated VAR_056989 commonName VAR_056989 VAR_056989 disease not phenotype-associated VAR_056990 commonName VAR_056990 VAR_056990 disease not phenotype-associated VAR_056994 commonName VAR_056994 VAR_056994 disease not phenotype-associated VAR_056995 commonName VAR_056995 VAR_056995 disease not phenotype-associated VAR_056998 commonName VAR_056998 VAR_056998 disease not phenotype-associated VAR_056999 commonName VAR_056999 VAR_056999 disease not phenotype-associated VAR_057001 commonName VAR_057001 VAR_057001 disease not phenotype-associated VAR_057002 commonName VAR_057002 VAR_057002 disease not phenotype-associated VAR_057003 commonName VAR_057003 VAR_057003 disease not phenotype-associated VAR_057004 commonName VAR_057004 VAR_057004 disease not phenotype-associated VAR_057005 commonName VAR_057005 VAR_057005 disease not phenotype-associated VAR_057006 commonName VAR_057006 VAR_057006 disease not phenotype-associated VAR_057007 commonName VAR_057007 VAR_057007 disease not phenotype-associated VAR_057008 commonName VAR_057008 VAR_057008 disease not phenotype-associated VAR_057009 commonName VAR_057009 VAR_057009 disease not phenotype-associated VAR_057010 commonName VAR_057010 VAR_057010 disease not phenotype-associated VAR_057011 commonName VAR_057011 VAR_057011 disease not phenotype-associated VAR_057012 commonName VAR_057012 VAR_057012 disease not phenotype-associated VAR_057013 commonName VAR_057013 VAR_057013 disease not phenotype-associated VAR_057014 commonName VAR_057014 VAR_057014 disease not phenotype-associated VAR_057015 commonName VAR_057015 VAR_057015 disease not phenotype-associated VAR_057016 commonName VAR_057016 VAR_057016 disease not phenotype-associated VAR_057017 commonName VAR_057017 VAR_057017 disease not phenotype-associated VAR_057018 commonName VAR_057018 VAR_057018 disease not phenotype-associated VAR_057019 commonName VAR_057019 VAR_057019 disease not phenotype-associated VAR_057020 commonName VAR_057020 VAR_057020 disease not phenotype-associated VAR_057023 commonName VAR_057023 VAR_057023 disease not phenotype-associated VAR_057024 commonName VAR_057024 VAR_057024 disease not phenotype-associated VAR_057025 commonName VAR_057025 VAR_057025 disease not phenotype-associated VAR_057026 commonName VAR_057026 VAR_057026 disease not phenotype-associated VAR_057027 commonName VAR_057027 VAR_057027 disease not phenotype-associated VAR_057028 commonName VAR_057028 VAR_057028 disease not phenotype-associated VAR_057029 commonName VAR_057029 VAR_057029 disease not phenotype-associated VAR_057030 commonName VAR_057030 VAR_057030 disease not phenotype-associated VAR_057031 commonName VAR_057031 VAR_057031 disease not phenotype-associated VAR_057032 commonName VAR_057032 VAR_057032 disease not phenotype-associated VAR_057033 commonName VAR_057033 VAR_057033 disease not phenotype-associated VAR_057038 commonName VAR_057038 VAR_057038 disease not phenotype-associated VAR_057039 commonName VAR_057039 VAR_057039 disease not phenotype-associated VAR_057040 commonName VAR_057040 VAR_057040 disease not phenotype-associated VAR_057041 commonName VAR_057041 VAR_057041 disease not phenotype-associated VAR_057042 commonName VAR_057042 VAR_057042 disease not phenotype-associated VAR_057043 commonName VAR_057043 VAR_057043 disease not phenotype-associated VAR_057044 commonName VAR_057044 VAR_057044 disease not phenotype-associated VAR_057045 commonName VAR_057045 VAR_057045 disease not phenotype-associated VAR_057047 commonName VAR_057047 VAR_057047 disease not phenotype-associated VAR_057048 commonName VAR_057048 VAR_057048 disease not phenotype-associated VAR_057049 commonName VAR_057049 VAR_057049 disease not phenotype-associated VAR_057050 commonName VAR_057050 VAR_057050 disease not phenotype-associated VAR_057051 commonName VAR_057051 VAR_057051 disease not phenotype-associated VAR_057052 commonName VAR_057052 VAR_057052 disease not phenotype-associated VAR_057053 commonName VAR_057053 VAR_057053 disease not phenotype-associated VAR_057054 commonName VAR_057054 VAR_057054 disease not phenotype-associated VAR_057055 commonName VAR_057055 VAR_057055 disease not phenotype-associated VAR_057056 commonName VAR_057056 VAR_057056 disease not phenotype-associated VAR_057057 commonName VAR_057057 VAR_057057 disease not phenotype-associated VAR_057058 commonName VAR_057058 VAR_057058 disease not phenotype-associated VAR_057063 commonName VAR_057063 VAR_057063 disease not phenotype-associated VAR_057064 commonName VAR_057064 VAR_057064 disease not phenotype-associated VAR_057065 commonName VAR_057065 VAR_057065 disease not phenotype-associated VAR_057066 commonName VAR_057066 VAR_057066 disease not phenotype-associated VAR_057067 commonName VAR_057067 VAR_057067 disease not phenotype-associated VAR_057068 commonName VAR_057068 VAR_057068 disease not phenotype-associated VAR_057073 commonName VAR_057073 VAR_057073 disease not phenotype-associated VAR_057074 commonName VAR_057074 VAR_057074 disease not phenotype-associated VAR_057075 commonName VAR_057075 VAR_057075 disease not phenotype-associated VAR_057076 commonName VAR_057076 VAR_057076 disease not phenotype-associated VAR_057077 commonName VAR_057077 VAR_057077 disease not phenotype-associated VAR_057078 commonName VAR_057078 VAR_057078 disease not phenotype-associated VAR_057079 commonName VAR_057079 VAR_057079 disease not phenotype-associated VAR_057080 commonName VAR_057080 VAR_057080 disease not phenotype-associated VAR_057081 commonName VAR_057081 VAR_057081 disease not phenotype-associated VAR_057082 commonName VAR_057082 VAR_057082 disease not phenotype-associated VAR_057087 commonName VAR_057087 VAR_057087 disease not phenotype-associated VAR_057088 commonName VAR_057088 VAR_057088 disease not phenotype-associated VAR_057089 commonName VAR_057089 VAR_057089 disease not phenotype-associated VAR_057090 commonName VAR_057090 VAR_057090 disease not phenotype-associated VAR_057091 commonName VAR_057091 VAR_057091 disease not phenotype-associated VAR_057092 commonName VAR_057092 VAR_057092 disease not phenotype-associated VAR_057093 commonName VAR_057093 VAR_057093 disease not phenotype-associated VAR_057094 commonName VAR_057094 VAR_057094 disease not phenotype-associated VAR_057095 commonName VAR_057095 VAR_057095 disease not phenotype-associated VAR_057096 commonName VAR_057096 VAR_057096 disease not phenotype-associated VAR_057097 commonName VAR_057097 VAR_057097 disease not phenotype-associated VAR_057098 commonName VAR_057098 VAR_057098 disease not phenotype-associated VAR_057099 commonName VAR_057099 VAR_057099 disease not phenotype-associated VAR_057101 commonName VAR_057101 VAR_057101 disease not phenotype-associated VAR_057102 commonName VAR_057102 VAR_057102 disease not phenotype-associated VAR_057103 commonName VAR_057103 VAR_057103 disease not phenotype-associated VAR_057105 commonName VAR_057105 VAR_057105 disease not phenotype-associated VAR_057106 commonName VAR_057106 VAR_057106 disease not phenotype-associated VAR_057107 commonName VAR_057107 VAR_057107 disease not phenotype-associated VAR_057108 commonName VAR_057108 VAR_057108 disease not phenotype-associated VAR_057109 commonName VAR_057109 VAR_057109 disease not phenotype-associated VAR_057110 commonName VAR_057110 VAR_057110 disease not phenotype-associated VAR_057112 commonName VAR_057112 VAR_057112 disease not phenotype-associated VAR_057113 commonName VAR_057113 VAR_057113 disease not phenotype-associated VAR_057114 commonName VAR_057114 VAR_057114 disease not phenotype-associated VAR_057115 commonName VAR_057115 VAR_057115 disease not phenotype-associated VAR_057116 commonName VAR_057116 VAR_057116 disease not phenotype-associated VAR_057117 commonName VAR_057117 VAR_057117 disease not phenotype-associated VAR_057118 commonName VAR_057118 VAR_057118 disease not phenotype-associated VAR_057119 commonName VAR_057119 VAR_057119 disease not phenotype-associated VAR_057120 commonName VAR_057120 VAR_057120 disease not phenotype-associated VAR_057121 commonName VAR_057121 VAR_057121 disease not phenotype-associated VAR_057122 commonName VAR_057122 VAR_057122 disease not phenotype-associated VAR_057123 commonName VAR_057123 VAR_057123 disease not phenotype-associated VAR_057124 commonName VAR_057124 VAR_057124 disease not phenotype-associated VAR_057125 commonName VAR_057125 VAR_057125 disease not phenotype-associated VAR_057126 commonName VAR_057126 VAR_057126 disease not phenotype-associated VAR_057128 commonName VAR_057128 VAR_057128 disease not phenotype-associated VAR_057130 commonName VAR_057130 VAR_057130 disease not phenotype-associated VAR_057131 commonName VAR_057131 VAR_057131 disease not phenotype-associated VAR_057132 commonName VAR_057132 VAR_057132 disease not phenotype-associated VAR_057133 commonName VAR_057133 VAR_057133 disease not phenotype-associated VAR_057134 commonName VAR_057134 VAR_057134 disease not phenotype-associated VAR_057135 commonName VAR_057135 VAR_057135 disease not phenotype-associated VAR_057136 commonName VAR_057136 VAR_057136 disease not phenotype-associated VAR_057137 commonName VAR_057137 VAR_057137 disease not phenotype-associated VAR_057138 commonName VAR_057138 VAR_057138 disease not phenotype-associated VAR_057139 commonName VAR_057139 VAR_057139 disease not phenotype-associated VAR_057140 commonName VAR_057140 VAR_057140 disease not phenotype-associated VAR_057141 commonName VAR_057141 VAR_057141 disease not phenotype-associated VAR_057143 commonName VAR_057143 VAR_057143 disease not phenotype-associated VAR_057144 commonName VAR_057144 VAR_057144 disease not phenotype-associated VAR_057145 commonName VAR_057145 VAR_057145 disease not phenotype-associated VAR_057148 commonName VAR_057148 VAR_057148 disease not phenotype-associated VAR_057149 commonName VAR_057149 VAR_057149 disease not phenotype-associated VAR_057150 commonName VAR_057150 VAR_057150 disease not phenotype-associated VAR_057151 commonName VAR_057151 VAR_057151 disease not phenotype-associated VAR_057152 commonName VAR_057152 VAR_057152 disease not phenotype-associated VAR_057153 commonName VAR_057153 VAR_057153 disease not phenotype-associated VAR_057154 commonName VAR_057154 VAR_057154 disease not phenotype-associated VAR_057155 commonName VAR_057155 VAR_057155 disease not phenotype-associated VAR_057156 commonName VAR_057156 VAR_057156 disease not phenotype-associated VAR_057157 commonName VAR_057157 VAR_057157 disease not phenotype-associated VAR_057158 commonName VAR_057158 VAR_057158 disease not phenotype-associated VAR_057159 commonName VAR_057159 VAR_057159 disease not phenotype-associated VAR_057161 commonName VAR_057161 VAR_057161 disease not phenotype-associated VAR_057162 commonName VAR_057162 VAR_057162 disease not phenotype-associated VAR_057163 commonName VAR_057163 VAR_057163 disease not phenotype-associated VAR_057164 commonName VAR_057164 VAR_057164 disease not phenotype-associated VAR_057165 commonName VAR_057165 VAR_057165 disease not phenotype-associated VAR_057166 commonName VAR_057166 VAR_057166 disease not phenotype-associated VAR_057168 commonName VAR_057168 VAR_057168 disease not phenotype-associated VAR_057169 commonName VAR_057169 VAR_057169 disease not phenotype-associated VAR_057172 commonName VAR_057172 VAR_057172 disease not phenotype-associated VAR_057173 commonName VAR_057173 VAR_057173 disease not phenotype-associated VAR_057175 commonName VAR_057175 VAR_057175 disease not phenotype-associated VAR_057176 commonName VAR_057176 VAR_057176 disease not phenotype-associated VAR_057178 commonName VAR_057178 VAR_057178 disease not phenotype-associated VAR_057179 commonName VAR_057179 VAR_057179 disease not phenotype-associated VAR_057180 commonName VAR_057180 VAR_057180 disease not phenotype-associated VAR_057181 commonName VAR_057181 VAR_057181 disease not phenotype-associated VAR_057182 commonName VAR_057182 VAR_057182 disease not phenotype-associated VAR_057183 commonName VAR_057183 VAR_057183 disease not phenotype-associated VAR_057184 commonName VAR_057184 VAR_057184 disease not phenotype-associated VAR_057185 commonName VAR_057185 VAR_057185 disease not phenotype-associated VAR_057187 commonName VAR_057187 VAR_057187 disease not phenotype-associated VAR_057189 commonName VAR_057189 VAR_057189 disease not phenotype-associated VAR_057190 commonName VAR_057190 VAR_057190 disease not phenotype-associated VAR_057191 commonName VAR_057191 VAR_057191 disease not phenotype-associated VAR_057192 commonName VAR_057192 VAR_057192 disease not phenotype-associated VAR_057193 commonName VAR_057193 VAR_057193 disease not phenotype-associated VAR_057194 commonName VAR_057194 VAR_057194 disease not phenotype-associated VAR_057195 commonName VAR_057195 VAR_057195 disease not phenotype-associated VAR_057196 commonName VAR_057196 VAR_057196 disease not phenotype-associated VAR_057197 commonName VAR_057197 VAR_057197 disease not phenotype-associated VAR_057198 commonName VAR_057198 VAR_057198 disease not phenotype-associated VAR_057199 commonName VAR_057199 VAR_057199 disease not phenotype-associated VAR_057200 commonName VAR_057200 VAR_057200 disease not phenotype-associated VAR_057201 commonName VAR_057201 VAR_057201 disease not phenotype-associated VAR_057202 commonName VAR_057202 VAR_057202 disease not phenotype-associated VAR_057203 commonName VAR_057203 VAR_057203 disease not phenotype-associated VAR_057204 commonName VAR_057204 VAR_057204 disease not phenotype-associated VAR_057205 commonName VAR_057205 VAR_057205 disease not phenotype-associated VAR_057210 commonName VAR_057210 VAR_057210 disease not phenotype-associated VAR_057211 commonName VAR_057211 VAR_057211 disease not phenotype-associated VAR_057212 commonName VAR_057212 VAR_057212 disease not phenotype-associated VAR_057213 commonName VAR_057213 VAR_057213 disease not phenotype-associated VAR_057215 commonName VAR_057215 VAR_057215 disease not phenotype-associated VAR_057218 commonName VAR_057218 VAR_057218 disease not phenotype-associated VAR_057219 commonName VAR_057219 VAR_057219 disease not phenotype-associated VAR_057220 commonName VAR_057220 VAR_057220 disease not phenotype-associated VAR_057224 commonName VAR_057224 VAR_057224 disease not phenotype-associated VAR_057225 commonName VAR_057225 VAR_057225 disease not phenotype-associated VAR_057226 commonName VAR_057226 VAR_057226 disease not phenotype-associated VAR_057227 commonName VAR_057227 VAR_057227 disease not phenotype-associated VAR_057228 commonName VAR_057228 VAR_057228 disease not phenotype-associated VAR_057229 commonName VAR_057229 VAR_057229 disease not phenotype-associated VAR_057230 commonName VAR_057230 VAR_057230 disease not phenotype-associated VAR_057234 commonName VAR_057234 VAR_057234 disease not phenotype-associated VAR_057235 commonName VAR_057235 HbVar.684 phenoCommon Hemoglobin variant VAR_057235 disease not phenotype-associated VAR_057239 commonName VAR_057239 VAR_057239 disease not phenotype-associated VAR_057241 commonName VAR_057241 VAR_057241 disease not phenotype-associated VAR_057242 commonName VAR_057242 VAR_057242 disease not phenotype-associated VAR_057243 commonName VAR_057243 VAR_057243 disease not phenotype-associated VAR_057244 commonName VAR_057244 VAR_057244 disease not phenotype-associated VAR_057245 commonName VAR_057245 VAR_057245 disease not phenotype-associated VAR_057246 commonName VAR_057246 VAR_057246 disease not phenotype-associated VAR_057247 commonName VAR_057247 VAR_057247 disease not phenotype-associated VAR_057248 commonName VAR_057248 VAR_057248 disease not phenotype-associated VAR_057249 commonName VAR_057249 VAR_057249 disease not phenotype-associated VAR_057251 commonName VAR_057251 VAR_057251 disease not phenotype-associated VAR_057252 commonName VAR_057252 VAR_057252 disease not phenotype-associated VAR_057253 commonName VAR_057253 VAR_057253 disease not phenotype-associated VAR_057254 commonName VAR_057254 VAR_057254 disease not phenotype-associated VAR_057255 commonName VAR_057255 VAR_057255 disease not phenotype-associated VAR_057256 commonName VAR_057256 VAR_057256 disease not phenotype-associated VAR_057257 commonName VAR_057257 VAR_057257 disease not phenotype-associated VAR_057258 commonName VAR_057258 VAR_057258 disease not phenotype-associated VAR_057259 commonName VAR_057259 VAR_057259 disease not phenotype-associated VAR_057260 commonName VAR_057260 VAR_057260 disease not phenotype-associated VAR_057261 commonName VAR_057261 VAR_057261 disease not phenotype-associated VAR_057263 commonName VAR_057263 VAR_057263 disease not phenotype-associated VAR_057264 commonName VAR_057264 VAR_057264 disease not phenotype-associated VAR_057265 commonName VAR_057265 VAR_057265 disease not phenotype-associated VAR_057266 commonName VAR_057266 VAR_057266 disease not phenotype-associated VAR_057267 commonName VAR_057267 VAR_057267 disease not phenotype-associated VAR_057269 commonName VAR_057269 VAR_057269 disease not phenotype-associated VAR_057271 commonName VAR_057271 VAR_057271 disease not phenotype-associated VAR_057272 commonName VAR_057272 VAR_057272 disease not phenotype-associated VAR_057273 commonName VAR_057273 VAR_057273 disease not phenotype-associated VAR_057274 commonName VAR_057274 VAR_057274 disease not phenotype-associated VAR_057275 commonName VAR_057275 VAR_057275 disease not phenotype-associated VAR_057276 commonName VAR_057276 VAR_057276 disease not phenotype-associated VAR_057279 commonName VAR_057279 VAR_057279 disease not phenotype-associated VAR_057280 commonName VAR_057280 VAR_057280 disease not phenotype-associated VAR_057281 commonName VAR_057281 VAR_057281 disease not phenotype-associated VAR_057282 commonName VAR_057282 VAR_057282 disease not phenotype-associated VAR_057283 commonName VAR_057283 VAR_057283 disease not phenotype-associated VAR_057284 commonName VAR_057284 VAR_057284 disease not phenotype-associated VAR_057285 commonName VAR_057285 VAR_057285 disease not phenotype-associated VAR_057287 commonName VAR_057287 VAR_057287 disease not phenotype-associated VAR_057288 commonName VAR_057288 VAR_057288 disease not phenotype-associated VAR_057289 commonName VAR_057289 VAR_057289 disease not phenotype-associated VAR_057290 commonName VAR_057290 VAR_057290 disease not phenotype-associated VAR_057291 commonName VAR_057291 VAR_057291 disease not phenotype-associated VAR_057292 commonName VAR_057292 VAR_057292 disease not phenotype-associated VAR_057293 commonName VAR_057293 VAR_057293 disease not phenotype-associated VAR_057294 commonName VAR_057294 VAR_057294 disease not phenotype-associated VAR_057295 commonName VAR_057295 VAR_057295 disease not phenotype-associated VAR_057296 commonName VAR_057296 VAR_057296 disease not phenotype-associated VAR_057297 commonName VAR_057297 VAR_057297 disease not phenotype-associated VAR_057298 commonName VAR_057298 VAR_057298 disease not phenotype-associated VAR_057299 commonName VAR_057299 VAR_057299 disease not phenotype-associated VAR_057300 commonName VAR_057300 VAR_057300 disease not phenotype-associated VAR_057301 commonName VAR_057301 VAR_057301 disease not phenotype-associated VAR_057302 commonName VAR_057302 VAR_057302 disease not phenotype-associated VAR_057303 commonName VAR_057303 VAR_057303 disease not phenotype-associated VAR_057304 commonName VAR_057304 VAR_057304 disease not phenotype-associated VAR_057307 commonName VAR_057307 VAR_057307 disease not phenotype-associated VAR_057308 commonName VAR_057308 VAR_057308 disease not phenotype-associated VAR_057309 commonName VAR_057309 VAR_057309 disease not phenotype-associated VAR_057311 commonName VAR_057311 VAR_057311 disease not phenotype-associated VAR_057312 commonName VAR_057312 VAR_057312 disease not phenotype-associated VAR_057313 commonName VAR_057313 VAR_057313 disease not phenotype-associated VAR_057314 commonName VAR_057314 VAR_057314 disease not phenotype-associated VAR_057315 commonName VAR_057315 VAR_057315 disease not phenotype-associated VAR_057320 commonName VAR_057320 VAR_057320 disease not phenotype-associated VAR_057321 commonName VAR_057321 VAR_057321 disease not phenotype-associated VAR_057323 commonName VAR_057323 VAR_057323 disease not phenotype-associated VAR_057326 commonName VAR_057326 VAR_057326 disease not phenotype-associated VAR_057327 commonName VAR_057327 VAR_057327 disease not phenotype-associated VAR_057328 commonName VAR_057328 VAR_057328 disease not phenotype-associated VAR_057329 commonName VAR_057329 VAR_057329 disease not phenotype-associated VAR_057330 commonName VAR_057330 VAR_057330 disease not phenotype-associated VAR_057334 commonName VAR_057334 VAR_057334 disease not phenotype-associated VAR_057335 commonName VAR_057335 VAR_057335 disease not phenotype-associated VAR_057336 commonName VAR_057336 VAR_057336 disease not phenotype-associated VAR_057337 commonName VAR_057337 VAR_057337 disease not phenotype-associated VAR_057338 commonName VAR_057338 VAR_057338 disease not phenotype-associated VAR_057339 commonName VAR_057339 VAR_057339 disease not phenotype-associated VAR_057340 commonName VAR_057340 VAR_057340 disease not phenotype-associated VAR_057341 commonName VAR_057341 VAR_057341 disease not phenotype-associated VAR_057342 commonName VAR_057342 VAR_057342 disease not phenotype-associated VAR_057343 commonName VAR_057343 VAR_057343 disease not phenotype-associated VAR_057344 commonName VAR_057344 VAR_057344 disease not phenotype-associated VAR_057345 commonName VAR_057345 VAR_057345 disease not phenotype-associated VAR_057346 commonName VAR_057346 VAR_057346 disease not phenotype-associated VAR_057347 commonName VAR_057347 VAR_057347 disease not phenotype-associated VAR_057349 commonName VAR_057349 VAR_057349 disease not phenotype-associated VAR_057350 commonName VAR_057350 VAR_057350 disease not phenotype-associated VAR_057351 commonName VAR_057351 VAR_057351 disease not phenotype-associated VAR_057352 commonName VAR_057352 VAR_057352 disease not phenotype-associated VAR_057355 commonName VAR_057355 VAR_057355 disease not phenotype-associated VAR_057356 commonName VAR_057356 VAR_057356 disease not phenotype-associated VAR_057357 commonName VAR_057357 VAR_057357 disease not phenotype-associated VAR_057359 commonName VAR_057359 VAR_057359 disease not phenotype-associated VAR_057360 commonName VAR_057360 VAR_057360 disease not phenotype-associated VAR_057361 commonName VAR_057361 VAR_057361 disease not phenotype-associated VAR_057362 commonName VAR_057362 VAR_057362 disease not phenotype-associated VAR_057363 commonName VAR_057363 VAR_057363 disease not phenotype-associated VAR_057364 commonName VAR_057364 VAR_057364 disease not phenotype-associated VAR_057365 commonName VAR_057365 VAR_057365 disease not phenotype-associated VAR_057366 commonName VAR_057366 VAR_057366 disease not phenotype-associated VAR_057367 commonName VAR_057367 VAR_057367 disease not phenotype-associated VAR_057369 commonName VAR_057369 VAR_057369 disease not phenotype-associated VAR_057370 commonName VAR_057370 VAR_057370 disease not phenotype-associated VAR_057371 commonName VAR_057371 VAR_057371 disease not phenotype-associated VAR_057372 commonName VAR_057372 VAR_057372 disease not phenotype-associated VAR_057373 commonName VAR_057373 VAR_057373 disease not phenotype-associated VAR_057374 commonName VAR_057374 VAR_057374 disease not phenotype-associated VAR_057375 commonName VAR_057375 VAR_057375 disease not phenotype-associated VAR_057376 commonName VAR_057376 VAR_057376 disease not phenotype-associated VAR_057377 commonName VAR_057377 VAR_057377 disease not phenotype-associated VAR_057378 commonName VAR_057378 VAR_057378 disease not phenotype-associated VAR_057379 commonName VAR_057379 VAR_057379 disease not phenotype-associated VAR_057380 commonName VAR_057380 VAR_057380 disease not phenotype-associated VAR_057381 commonName VAR_057381 VAR_057381 disease not phenotype-associated VAR_057382 commonName VAR_057382 VAR_057382 disease not phenotype-associated VAR_057383 commonName VAR_057383 VAR_057383 disease not phenotype-associated VAR_057384 commonName VAR_057384 VAR_057384 disease not phenotype-associated VAR_057385 commonName VAR_057385 VAR_057385 disease not phenotype-associated VAR_057386 commonName VAR_057386 VAR_057386 disease not phenotype-associated VAR_057387 commonName VAR_057387 VAR_057387 disease not phenotype-associated VAR_057388 commonName VAR_057388 VAR_057388 disease not phenotype-associated VAR_057389 commonName VAR_057389 VAR_057389 disease not phenotype-associated VAR_057390 commonName VAR_057390 VAR_057390 disease not phenotype-associated VAR_057391 commonName VAR_057391 VAR_057391 disease not phenotype-associated VAR_057392 commonName VAR_057392 VAR_057392 disease not phenotype-associated VAR_057393 commonName VAR_057393 VAR_057393 disease not phenotype-associated VAR_057394 commonName VAR_057394 VAR_057394 disease not phenotype-associated VAR_057395 commonName VAR_057395 VAR_057395 disease not phenotype-associated VAR_057396 commonName VAR_057396 VAR_057396 disease not phenotype-associated VAR_057397 commonName VAR_057397 VAR_057397 disease not phenotype-associated VAR_057398 commonName VAR_057398 VAR_057398 disease not phenotype-associated VAR_057399 commonName VAR_057399 VAR_057399 disease not phenotype-associated VAR_057400 commonName VAR_057400 VAR_057400 disease not phenotype-associated VAR_057401 commonName VAR_057401 VAR_057401 disease not phenotype-associated VAR_057402 commonName VAR_057402 VAR_057402 disease not phenotype-associated VAR_057403 commonName VAR_057403 VAR_057403 disease not phenotype-associated VAR_057404 commonName VAR_057404 VAR_057404 disease not phenotype-associated VAR_057405 commonName VAR_057405 VAR_057405 disease not phenotype-associated VAR_057406 commonName VAR_057406 VAR_057406 disease not phenotype-associated VAR_057407 commonName VAR_057407 VAR_057407 disease not phenotype-associated VAR_057408 commonName VAR_057408 VAR_057408 disease not phenotype-associated VAR_057409 commonName VAR_057409 VAR_057409 disease not phenotype-associated VAR_057410 commonName VAR_057410 VAR_057410 disease not phenotype-associated VAR_057411 commonName VAR_057411 VAR_057411 disease not phenotype-associated VAR_057412 commonName VAR_057412 VAR_057412 disease not phenotype-associated VAR_057413 commonName VAR_057413 VAR_057413 disease not phenotype-associated VAR_057414 commonName VAR_057414 VAR_057414 disease not phenotype-associated VAR_057415 commonName VAR_057415 VAR_057415 disease not phenotype-associated VAR_057419 commonName VAR_057419 VAR_057419 disease not phenotype-associated VAR_057420 commonName VAR_057420 VAR_057420 disease not phenotype-associated VAR_057421 commonName VAR_057421 VAR_057421 disease not phenotype-associated VAR_057422 commonName VAR_057422 VAR_057422 disease not phenotype-associated VAR_057423 commonName VAR_057423 VAR_057423 disease not phenotype-associated VAR_057424 commonName VAR_057424 VAR_057424 disease not phenotype-associated VAR_057425 commonName VAR_057425 VAR_057425 disease not phenotype-associated VAR_057426 commonName VAR_057426 VAR_057426 disease not phenotype-associated VAR_057427 commonName VAR_057427 VAR_057427 disease not phenotype-associated VAR_057428 commonName VAR_057428 VAR_057428 disease not phenotype-associated VAR_057430 commonName VAR_057430 VAR_057430 disease not phenotype-associated VAR_057431 commonName VAR_057431 VAR_057431 disease not phenotype-associated VAR_057432 commonName VAR_057432 VAR_057432 disease not phenotype-associated VAR_057433 commonName VAR_057433 VAR_057433 disease not phenotype-associated VAR_057434 commonName VAR_057434 VAR_057434 disease not phenotype-associated VAR_057435 commonName VAR_057435 VAR_057435 disease not phenotype-associated VAR_057436 commonName VAR_057436 VAR_057436 disease not phenotype-associated VAR_057437 commonName VAR_057437 VAR_057437 disease not phenotype-associated VAR_057438 commonName VAR_057438 VAR_057438 disease not phenotype-associated VAR_057439 commonName VAR_057439 VAR_057439 disease not phenotype-associated VAR_057440 commonName VAR_057440 VAR_057440 disease not phenotype-associated VAR_057441 commonName VAR_057441 VAR_057441 disease not phenotype-associated VAR_057442 commonName VAR_057442 VAR_057442 disease not phenotype-associated VAR_057443 commonName VAR_057443 VAR_057443 disease not phenotype-associated VAR_057444 commonName VAR_057444 VAR_057444 disease not phenotype-associated VAR_057445 commonName VAR_057445 VAR_057445 disease not phenotype-associated VAR_057446 commonName VAR_057446 VAR_057446 disease not phenotype-associated VAR_057447 commonName VAR_057447 VAR_057447 disease not phenotype-associated VAR_057453 commonName VAR_057453 VAR_057453 disease not phenotype-associated VAR_057454 commonName VAR_057454 VAR_057454 disease not phenotype-associated VAR_057455 commonName VAR_057455 VAR_057455 disease not phenotype-associated VAR_057456 commonName VAR_057456 VAR_057456 disease not phenotype-associated VAR_057458 commonName VAR_057458 VAR_057458 disease not phenotype-associated VAR_057459 commonName VAR_057459 VAR_057459 disease not phenotype-associated VAR_057461 commonName VAR_057461 VAR_057461 disease not phenotype-associated VAR_057462 commonName VAR_057462 VAR_057462 disease not phenotype-associated VAR_057463 commonName VAR_057463 VAR_057463 disease not phenotype-associated VAR_057464 commonName VAR_057464 VAR_057464 disease not phenotype-associated VAR_057467 commonName VAR_057467 VAR_057467 disease not phenotype-associated VAR_057468 commonName VAR_057468 VAR_057468 disease not phenotype-associated VAR_057469 commonName VAR_057469 VAR_057469 disease not phenotype-associated VAR_057470 commonName VAR_057470 VAR_057470 disease not phenotype-associated VAR_057472 commonName VAR_057472 VAR_057472 disease not phenotype-associated VAR_057473 commonName VAR_057473 VAR_057473 disease not phenotype-associated VAR_057474 commonName VAR_057474 VAR_057474 disease not phenotype-associated VAR_057475 commonName VAR_057475 VAR_057475 disease not phenotype-associated VAR_057476 commonName VAR_057476 VAR_057476 disease not phenotype-associated VAR_057477 commonName VAR_057477 VAR_057477 disease not phenotype-associated VAR_057480 commonName VAR_057480 VAR_057480 disease not phenotype-associated VAR_057481 commonName VAR_057481 VAR_057481 disease not phenotype-associated VAR_057482 commonName VAR_057482 VAR_057482 disease not phenotype-associated VAR_057483 commonName VAR_057483 VAR_057483 disease not phenotype-associated VAR_057484 commonName VAR_057484 VAR_057484 disease not phenotype-associated VAR_057485 commonName VAR_057485 VAR_057485 disease not phenotype-associated VAR_057486 commonName VAR_057486 VAR_057486 disease not phenotype-associated VAR_057487 commonName VAR_057487 VAR_057487 disease not phenotype-associated VAR_057488 commonName VAR_057488 VAR_057488 disease not phenotype-associated VAR_057489 commonName VAR_057489 VAR_057489 disease not phenotype-associated VAR_057490 commonName VAR_057490 VAR_057490 disease not phenotype-associated VAR_057491 commonName VAR_057491 VAR_057491 disease not phenotype-associated VAR_057492 commonName VAR_057492 VAR_057492 disease not phenotype-associated VAR_057494 commonName VAR_057494 VAR_057494 disease not phenotype-associated VAR_057495 commonName VAR_057495 VAR_057495 disease not phenotype-associated VAR_057496 commonName VAR_057496 VAR_057496 disease not phenotype-associated VAR_057497 commonName VAR_057497 VAR_057497 disease not phenotype-associated VAR_057498 commonName VAR_057498 VAR_057498 disease not phenotype-associated VAR_057499 commonName VAR_057499 VAR_057499 disease not phenotype-associated VAR_057500 commonName VAR_057500 VAR_057500 disease not phenotype-associated VAR_057501 commonName VAR_057501 VAR_057501 disease not phenotype-associated VAR_057503 commonName VAR_057503 VAR_057503 disease not phenotype-associated VAR_057504 commonName VAR_057504 VAR_057504 disease not phenotype-associated VAR_057505 commonName VAR_057505 VAR_057505 disease not phenotype-associated VAR_057506 commonName VAR_057506 VAR_057506 disease not phenotype-associated VAR_057507 commonName VAR_057507 VAR_057507 disease not phenotype-associated VAR_057508 commonName VAR_057508 VAR_057508 disease not phenotype-associated VAR_057509 commonName VAR_057509 VAR_057509 disease not phenotype-associated VAR_057510 commonName VAR_057510 VAR_057510 disease not phenotype-associated VAR_057511 commonName VAR_057511 VAR_057511 disease not phenotype-associated VAR_057512 commonName VAR_057512 VAR_057512 disease not phenotype-associated VAR_057513 commonName VAR_057513 VAR_057513 disease not phenotype-associated VAR_057514 commonName VAR_057514 VAR_057514 disease not phenotype-associated VAR_057515 commonName VAR_057515 VAR_057515 disease not phenotype-associated VAR_057516 commonName VAR_057516 VAR_057516 disease not phenotype-associated VAR_057517 commonName VAR_057517 VAR_057517 disease not phenotype-associated VAR_057518 commonName VAR_057518 VAR_057518 disease not phenotype-associated VAR_057519 commonName VAR_057519 VAR_057519 disease not phenotype-associated VAR_057520 commonName VAR_057520 VAR_057520 disease not phenotype-associated VAR_057521 commonName VAR_057521 VAR_057521 disease not phenotype-associated VAR_057522 commonName VAR_057522 VAR_057522 disease not phenotype-associated VAR_057523 commonName VAR_057523 VAR_057523 disease not phenotype-associated VAR_057525 commonName VAR_057525 VAR_057525 disease not phenotype-associated VAR_057526 commonName VAR_057526 VAR_057526 disease not phenotype-associated VAR_057527 commonName VAR_057527 VAR_057527 disease not phenotype-associated VAR_057528 commonName VAR_057528 VAR_057528 disease not phenotype-associated VAR_057529 commonName VAR_057529 VAR_057529 disease not phenotype-associated VAR_057531 commonName VAR_057531 VAR_057531 disease not phenotype-associated VAR_057532 commonName VAR_057532 VAR_057532 disease not phenotype-associated VAR_057533 commonName VAR_057533 VAR_057533 disease not phenotype-associated VAR_057534 commonName VAR_057534 VAR_057534 disease not phenotype-associated VAR_057535 commonName VAR_057535 VAR_057535 disease not phenotype-associated VAR_057536 commonName VAR_057536 VAR_057536 disease not phenotype-associated VAR_057537 commonName VAR_057537 VAR_057537 disease not phenotype-associated VAR_057538 commonName VAR_057538 VAR_057538 disease not phenotype-associated VAR_057539 commonName VAR_057539 VAR_057539 disease not phenotype-associated VAR_057541 commonName VAR_057541 VAR_057541 disease not phenotype-associated VAR_057542 commonName VAR_057542 VAR_057542 disease not phenotype-associated VAR_057543 commonName VAR_057543 VAR_057543 disease not phenotype-associated VAR_057544 commonName VAR_057544 VAR_057544 disease not phenotype-associated VAR_057545 commonName VAR_057545 VAR_057545 disease not phenotype-associated VAR_057546 commonName VAR_057546 VAR_057546 disease not phenotype-associated VAR_057547 commonName VAR_057547 VAR_057547 disease not phenotype-associated VAR_057548 commonName VAR_057548 VAR_057548 disease not phenotype-associated VAR_057549 commonName VAR_057549 VAR_057549 disease not phenotype-associated VAR_057550 commonName VAR_057550 VAR_057550 disease not phenotype-associated VAR_057551 commonName VAR_057551 VAR_057551 disease not phenotype-associated VAR_057552 commonName VAR_057552 VAR_057552 disease not phenotype-associated VAR_057553 commonName VAR_057553 VAR_057553 disease not phenotype-associated VAR_057554 commonName VAR_057554 VAR_057554 disease not phenotype-associated VAR_057555 commonName VAR_057555 VAR_057555 disease not phenotype-associated VAR_057556 commonName VAR_057556 VAR_057556 disease not phenotype-associated VAR_057557 commonName VAR_057557 VAR_057557 disease not phenotype-associated VAR_057558 commonName VAR_057558 VAR_057558 disease not phenotype-associated VAR_057559 commonName VAR_057559 VAR_057559 disease not phenotype-associated VAR_057560 commonName VAR_057560 VAR_057560 disease not phenotype-associated VAR_057561 commonName VAR_057561 VAR_057561 disease not phenotype-associated VAR_057562 commonName VAR_057562 VAR_057562 disease not phenotype-associated VAR_057563 commonName VAR_057563 VAR_057563 disease not phenotype-associated VAR_057564 commonName VAR_057564 VAR_057564 disease not phenotype-associated VAR_057565 commonName VAR_057565 VAR_057565 disease not phenotype-associated VAR_057566 commonName VAR_057566 VAR_057566 disease not phenotype-associated VAR_057567 commonName VAR_057567 VAR_057567 disease not phenotype-associated VAR_057568 commonName VAR_057568 VAR_057568 disease not phenotype-associated VAR_057576 commonName VAR_057576 VAR_057576 disease not phenotype-associated VAR_057577 commonName VAR_057577 VAR_057577 disease not phenotype-associated VAR_057578 commonName VAR_057578 VAR_057578 disease not phenotype-associated VAR_057579 commonName VAR_057579 VAR_057579 disease not phenotype-associated VAR_057580 commonName VAR_057580 VAR_057580 disease not phenotype-associated VAR_057581 commonName VAR_057581 VAR_057581 disease not phenotype-associated VAR_057583 commonName VAR_057583 VAR_057583 disease not phenotype-associated VAR_057584 commonName VAR_057584 VAR_057584 disease not phenotype-associated VAR_057585 commonName VAR_057585 VAR_057585 disease not phenotype-associated VAR_057586 commonName VAR_057586 VAR_057586 disease not phenotype-associated VAR_057587 commonName VAR_057587 VAR_057587 disease not phenotype-associated VAR_057588 commonName VAR_057588 VAR_057588 disease not phenotype-associated VAR_057589 commonName VAR_057589 VAR_057589 disease not phenotype-associated VAR_057590 commonName VAR_057590 VAR_057590 disease not phenotype-associated VAR_057591 commonName VAR_057591 VAR_057591 disease not phenotype-associated VAR_057592 commonName VAR_057592 VAR_057592 disease not phenotype-associated VAR_057593 commonName VAR_057593 VAR_057593 disease not phenotype-associated VAR_057594 commonName VAR_057594 VAR_057594 disease not phenotype-associated VAR_057595 commonName VAR_057595 VAR_057595 disease not phenotype-associated VAR_057596 commonName VAR_057596 VAR_057596 disease not phenotype-associated VAR_057597 commonName VAR_057597 VAR_057597 disease not phenotype-associated VAR_057598 commonName VAR_057598 VAR_057598 disease not phenotype-associated VAR_057600 commonName VAR_057600 VAR_057600 disease not phenotype-associated VAR_057601 commonName VAR_057601 VAR_057601 disease not phenotype-associated VAR_057602 commonName VAR_057602 VAR_057602 disease not phenotype-associated VAR_057603 commonName VAR_057603 VAR_057603 disease not phenotype-associated VAR_057604 commonName VAR_057604 VAR_057604 disease not phenotype-associated VAR_057605 commonName VAR_057605 VAR_057605 disease not phenotype-associated VAR_057606 commonName VAR_057606 VAR_057606 disease not phenotype-associated VAR_057607 commonName VAR_057607 VAR_057607 disease not phenotype-associated VAR_057608 commonName VAR_057608 VAR_057608 disease not phenotype-associated VAR_057609 commonName VAR_057609 VAR_057609 disease not phenotype-associated VAR_057610 commonName VAR_057610 VAR_057610 disease not phenotype-associated VAR_057611 commonName VAR_057611 VAR_057611 disease not phenotype-associated VAR_057612 commonName VAR_057612 VAR_057612 disease not phenotype-associated VAR_057613 commonName VAR_057613 VAR_057613 disease not phenotype-associated VAR_057614 commonName VAR_057614 VAR_057614 disease not phenotype-associated VAR_057615 commonName VAR_057615 VAR_057615 disease not phenotype-associated VAR_057616 commonName VAR_057616 VAR_057616 disease not phenotype-associated VAR_057617 commonName VAR_057617 VAR_057617 disease not phenotype-associated VAR_057618 commonName VAR_057618 VAR_057618 disease not phenotype-associated VAR_057619 commonName VAR_057619 VAR_057619 disease not phenotype-associated VAR_057620 commonName VAR_057620 VAR_057620 disease not phenotype-associated VAR_057621 commonName VAR_057621 VAR_057621 disease not phenotype-associated VAR_057622 commonName VAR_057622 VAR_057622 disease not phenotype-associated VAR_057623 commonName VAR_057623 VAR_057623 disease not phenotype-associated VAR_057624 commonName VAR_057624 VAR_057624 disease not phenotype-associated VAR_057625 commonName VAR_057625 VAR_057625 disease not phenotype-associated VAR_057627 commonName VAR_057627 VAR_057627 disease not phenotype-associated VAR_057628 commonName VAR_057628 VAR_057628 disease not phenotype-associated VAR_057629 commonName VAR_057629 VAR_057629 disease not phenotype-associated VAR_057630 commonName VAR_057630 VAR_057630 disease not phenotype-associated VAR_057631 commonName VAR_057631 VAR_057631 disease not phenotype-associated VAR_057633 commonName VAR_057633 VAR_057633 disease not phenotype-associated VAR_057634 commonName VAR_057634 VAR_057634 disease not phenotype-associated VAR_057635 commonName VAR_057635 VAR_057635 disease not phenotype-associated VAR_057636 commonName VAR_057636 VAR_057636 disease not phenotype-associated VAR_057638 commonName VAR_057638 VAR_057638 disease not phenotype-associated VAR_057639 commonName VAR_057639 VAR_057639 disease not phenotype-associated VAR_057640 commonName VAR_057640 VAR_057640 disease not phenotype-associated VAR_057641 commonName VAR_057641 VAR_057641 disease not phenotype-associated VAR_057642 commonName VAR_057642 VAR_057642 disease not phenotype-associated VAR_057643 commonName VAR_057643 VAR_057643 disease not phenotype-associated VAR_057644 commonName VAR_057644 VAR_057644 disease not phenotype-associated VAR_057645 commonName VAR_057645 VAR_057645 disease not phenotype-associated VAR_057646 commonName VAR_057646 VAR_057646 disease not phenotype-associated VAR_057647 commonName VAR_057647 VAR_057647 disease not phenotype-associated VAR_057649 commonName VAR_057649 VAR_057649 disease not phenotype-associated VAR_057650 commonName VAR_057650 VAR_057650 disease not phenotype-associated VAR_057651 commonName VAR_057651 VAR_057651 disease not phenotype-associated VAR_057652 commonName VAR_057652 VAR_057652 disease not phenotype-associated VAR_057653 commonName VAR_057653 VAR_057653 disease not phenotype-associated VAR_057654 commonName VAR_057654 VAR_057654 disease not phenotype-associated VAR_057656 commonName VAR_057656 VAR_057656 disease not phenotype-associated VAR_057657 commonName VAR_057657 VAR_057657 disease not phenotype-associated VAR_057660 commonName VAR_057660 VAR_057660 disease not phenotype-associated VAR_057661 commonName VAR_057661 VAR_057661 disease not phenotype-associated VAR_057662 commonName VAR_057662 VAR_057662 disease not phenotype-associated VAR_057663 commonName VAR_057663 VAR_057663 disease not phenotype-associated VAR_057664 commonName VAR_057664 VAR_057664 disease not phenotype-associated VAR_057665 commonName VAR_057665 VAR_057665 disease not phenotype-associated VAR_057666 commonName VAR_057666 VAR_057666 disease not phenotype-associated VAR_057667 commonName VAR_057667 VAR_057667 disease not phenotype-associated VAR_057668 commonName VAR_057668 VAR_057668 disease not phenotype-associated VAR_057669 commonName VAR_057669 VAR_057669 disease not phenotype-associated VAR_057670 commonName VAR_057670 VAR_057670 disease not phenotype-associated VAR_057671 commonName VAR_057671 VAR_057671 disease not phenotype-associated VAR_057672 commonName VAR_057672 VAR_057672 disease not phenotype-associated VAR_057673 commonName VAR_057673 VAR_057673 disease not phenotype-associated VAR_057674 commonName VAR_057674 VAR_057674 disease not phenotype-associated VAR_057675 commonName VAR_057675 VAR_057675 disease not phenotype-associated VAR_057676 commonName VAR_057676 VAR_057676 disease not phenotype-associated VAR_057677 commonName VAR_057677 VAR_057677 disease not phenotype-associated VAR_057678 commonName VAR_057678 VAR_057678 disease not phenotype-associated VAR_057679 commonName VAR_057679 VAR_057679 disease not phenotype-associated VAR_057680 commonName VAR_057680 VAR_057680 disease not phenotype-associated VAR_057698 commonName VAR_057698 VAR_057698 disease not phenotype-associated VAR_057700 commonName VAR_057700 VAR_057700 disease not phenotype-associated VAR_057701 commonName VAR_057701 VAR_057701 disease not phenotype-associated VAR_057702 commonName VAR_057702 VAR_057702 disease not phenotype-associated VAR_057703 commonName VAR_057703 VAR_057703 disease not phenotype-associated VAR_057704 commonName VAR_057704 VAR_057704 disease not phenotype-associated VAR_057705 commonName VAR_057705 VAR_057705 disease not phenotype-associated VAR_057706 commonName VAR_057706 VAR_057706 disease not phenotype-associated VAR_057707 commonName VAR_057707 VAR_057707 disease not phenotype-associated VAR_057708 commonName VAR_057708 VAR_057708 disease not phenotype-associated VAR_057709 commonName VAR_057709 VAR_057709 disease not phenotype-associated VAR_057710 commonName VAR_057710 VAR_057710 disease not phenotype-associated VAR_057711 commonName VAR_057711 VAR_057711 disease not phenotype-associated VAR_057712 commonName VAR_057712 VAR_057712 disease not phenotype-associated VAR_057713 commonName VAR_057713 VAR_057713 disease not phenotype-associated VAR_057714 commonName VAR_057714 VAR_057714 disease not phenotype-associated VAR_057715 commonName VAR_057715 VAR_057715 disease not phenotype-associated VAR_057718 commonName VAR_057718 VAR_057718 disease not phenotype-associated VAR_057719 commonName VAR_057719 VAR_057719 disease not phenotype-associated VAR_057720 commonName VAR_057720 VAR_057720 disease not phenotype-associated VAR_057721 commonName VAR_057721 VAR_057721 disease not phenotype-associated VAR_057722 commonName VAR_057722 VAR_057722 disease not phenotype-associated VAR_057724 commonName VAR_057724 VAR_057724 disease not phenotype-associated VAR_057725 commonName VAR_057725 VAR_057725 disease not phenotype-associated VAR_057727 commonName VAR_057727 VAR_057727 disease not phenotype-associated VAR_057729 commonName VAR_057729 VAR_057729 disease not phenotype-associated VAR_057730 commonName VAR_057730 VAR_057730 disease not phenotype-associated VAR_057731 commonName VAR_057731 VAR_057731 disease not phenotype-associated VAR_057732 commonName VAR_057732 VAR_057732 disease not phenotype-associated VAR_057733 commonName VAR_057733 VAR_057733 disease not phenotype-associated VAR_057734 commonName VAR_057734 VAR_057734 disease not phenotype-associated VAR_057735 commonName VAR_057735 VAR_057735 disease not phenotype-associated VAR_057738 commonName VAR_057738 VAR_057738 disease not phenotype-associated VAR_057739 commonName VAR_057739 VAR_057739 disease not phenotype-associated VAR_057740 commonName VAR_057740 VAR_057740 disease not phenotype-associated VAR_057741 commonName VAR_057741 VAR_057741 disease not phenotype-associated VAR_057743 commonName VAR_057743 VAR_057743 disease not phenotype-associated VAR_057744 commonName VAR_057744 VAR_057744 disease not phenotype-associated VAR_057745 commonName VAR_057745 VAR_057745 disease not phenotype-associated VAR_057746 commonName VAR_057746 VAR_057746 disease not phenotype-associated VAR_057747 commonName VAR_057747 VAR_057747 disease not phenotype-associated VAR_057748 commonName VAR_057748 VAR_057748 disease not phenotype-associated VAR_057749 commonName VAR_057749 VAR_057749 disease not phenotype-associated VAR_057750 commonName VAR_057750 VAR_057750 disease not phenotype-associated VAR_057751 commonName VAR_057751 VAR_057751 disease not phenotype-associated VAR_057752 commonName VAR_057752 VAR_057752 disease not phenotype-associated VAR_057753 commonName VAR_057753 VAR_057753 disease not phenotype-associated VAR_057756 commonName VAR_057756 VAR_057756 disease not phenotype-associated VAR_057757 commonName VAR_057757 VAR_057757 disease not phenotype-associated VAR_057758 commonName VAR_057758 VAR_057758 disease not phenotype-associated VAR_057759 commonName VAR_057759 VAR_057759 disease not phenotype-associated VAR_057765 commonName VAR_057765 VAR_057765 disease not phenotype-associated VAR_057766 commonName VAR_057766 VAR_057766 disease not phenotype-associated VAR_057767 commonName VAR_057767 VAR_057767 disease not phenotype-associated VAR_057769 commonName VAR_057769 VAR_057769 disease not phenotype-associated VAR_057770 commonName VAR_057770 VAR_057770 disease not phenotype-associated VAR_057771 commonName VAR_057771 VAR_057771 disease not phenotype-associated VAR_057772 commonName VAR_057772 VAR_057772 disease not phenotype-associated VAR_057775 commonName VAR_057775 VAR_057775 disease not phenotype-associated VAR_057776 commonName VAR_057776 VAR_057776 disease not phenotype-associated VAR_057777 commonName VAR_057777 VAR_057777 disease not phenotype-associated VAR_057778 commonName VAR_057778 VAR_057778 disease not phenotype-associated VAR_057779 commonName VAR_057779 VAR_057779 disease not phenotype-associated VAR_057780 commonName VAR_057780 VAR_057780 disease not phenotype-associated VAR_057781 commonName VAR_057781 VAR_057781 disease not phenotype-associated VAR_057782 commonName VAR_057782 VAR_057782 disease not phenotype-associated VAR_057783 commonName VAR_057783 VAR_057783 disease not phenotype-associated VAR_057784 commonName VAR_057784 VAR_057784 disease not phenotype-associated VAR_057785 commonName VAR_057785 VAR_057785 disease not phenotype-associated VAR_057786 commonName VAR_057786 VAR_057786 disease not phenotype-associated VAR_057787 commonName VAR_057787 VAR_057787 disease not phenotype-associated VAR_057788 commonName VAR_057788 VAR_057788 disease not phenotype-associated VAR_057789 commonName VAR_057789 VAR_057789 disease not phenotype-associated VAR_057791 commonName VAR_057791 VAR_057791 disease not phenotype-associated VAR_057792 commonName VAR_057792 VAR_057792 disease not phenotype-associated VAR_057793 commonName VAR_057793 VAR_057793 disease not phenotype-associated VAR_057794 commonName VAR_057794 VAR_057794 disease not phenotype-associated VAR_057795 commonName VAR_057795 VAR_057795 disease not phenotype-associated VAR_057796 commonName VAR_057796 VAR_057796 disease not phenotype-associated VAR_057797 commonName VAR_057797 VAR_057797 disease not phenotype-associated VAR_057798 commonName VAR_057798 VAR_057798 disease not phenotype-associated VAR_057799 commonName VAR_057799 VAR_057799 disease not phenotype-associated VAR_057800 commonName VAR_057800 VAR_057800 disease not phenotype-associated VAR_057802 commonName VAR_057802 VAR_057802 disease not phenotype-associated VAR_057803 commonName VAR_057803 VAR_057803 disease not phenotype-associated VAR_057804 commonName VAR_057804 VAR_057804 disease not phenotype-associated VAR_057805 commonName VAR_057805 VAR_057805 disease not phenotype-associated VAR_057806 commonName VAR_057806 VAR_057806 disease not phenotype-associated VAR_057808 commonName VAR_057808 VAR_057808 disease not phenotype-associated VAR_057809 commonName VAR_057809 VAR_057809 disease not phenotype-associated VAR_057810 commonName VAR_057810 VAR_057810 disease not phenotype-associated VAR_057812 commonName VAR_057812 VAR_057812 disease not phenotype-associated VAR_057813 commonName VAR_057813 VAR_057813 disease not phenotype-associated VAR_057814 commonName VAR_057814 VAR_057814 disease not phenotype-associated VAR_057815 commonName VAR_057815 VAR_057815 disease not phenotype-associated VAR_057816 commonName VAR_057816 VAR_057816 disease not phenotype-associated VAR_057817 commonName VAR_057817 VAR_057817 disease not phenotype-associated VAR_057818 commonName VAR_057818 VAR_057818 disease not phenotype-associated VAR_057819 commonName VAR_057819 VAR_057819 disease not phenotype-associated VAR_057820 commonName VAR_057820 VAR_057820 disease not phenotype-associated VAR_057821 commonName VAR_057821 VAR_057821 disease not phenotype-associated VAR_057822 commonName VAR_057822 VAR_057822 disease not phenotype-associated VAR_057823 commonName VAR_057823 VAR_057823 disease not phenotype-associated VAR_057824 commonName VAR_057824 VAR_057824 disease not phenotype-associated VAR_057825 commonName VAR_057825 VAR_057825 disease not phenotype-associated VAR_057826 commonName VAR_057826 VAR_057826 disease not phenotype-associated VAR_057827 commonName VAR_057827 VAR_057827 disease not phenotype-associated VAR_057828 commonName VAR_057828 VAR_057828 disease not phenotype-associated VAR_057829 commonName VAR_057829 VAR_057829 disease not phenotype-associated VAR_057831 commonName VAR_057831 VAR_057831 disease not phenotype-associated VAR_057833 commonName VAR_057833 VAR_057833 disease phenotype-associated VAR_057833 phenoCommon Agammaglobulinemia type 6 (AGM6) [MIM:612692] VAR_057834 commonName VAR_057834 VAR_057834 disease phenotype-associated VAR_057834 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] VAR_057835 commonName VAR_057835 VAR_057835 disease phenotype-associated VAR_057835 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] VAR_057835 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] VAR_057836 commonName VAR_057836 VAR_057836 disease not phenotype-associated VAR_057837 commonName VAR_057837 VAR_057837 disease phenotype-associated VAR_057837 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] VAR_057838 commonName VAR_057838 VAR_057838 disease phenotype-associated VAR_057838 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] VAR_057839 commonName VAR_057839 VAR_057839 disease phenotype-associated VAR_057839 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] VAR_057840 commonName VAR_057840 VAR_057840 disease phenotype-associated VAR_057840 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] VAR_057841 commonName VAR_057841 VAR_057841 disease phenotype-associated VAR_057841 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] VAR_057842 commonName VAR_057842 VAR_057842 disease not phenotype-associated VAR_057843 commonName VAR_057843 VAR_057844 commonName VAR_057844 VAR_057844 disease phenotype-associated VAR_057844 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] VAR_057846 commonName VAR_057846 VAR_057846 disease phenotype-associated VAR_057846 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] VAR_057847 commonName VAR_057847 VAR_057847 disease not phenotype-associated VAR_057848 commonName VAR_057848 VAR_057848 disease phenotype-associated VAR_057848 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] VAR_057849 commonName VAR_057849 VAR_057849 disease phenotype-associated VAR_057849 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] VAR_057850 commonName VAR_057850 VAR_057850 disease phenotype-associated VAR_057850 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] VAR_057851 commonName VAR_057851 VAR_057851 disease phenotype-associated VAR_057851 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] VAR_057851 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] VAR_057852 commonName VAR_057852 VAR_057852 disease phenotype-associated VAR_057852 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] VAR_057853 commonName VAR_057853 VAR_057853 disease phenotype-associated VAR_057853 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] VAR_057854 commonName VAR_057854 VAR_057854 disease phenotype-associated VAR_057854 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] VAR_057855 commonName VAR_057855 VAR_057855 disease not phenotype-associated VAR_057856 commonName VAR_057856 VAR_057856 disease phenotype-associated VAR_057856 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] VAR_057857 commonName VAR_057857 VAR_057857 disease phenotype-associated VAR_057857 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] VAR_057858 commonName VAR_057858 VAR_057858 disease phenotype-associated VAR_057858 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] VAR_057859 commonName VAR_057859 VAR_057859 disease phenotype-associated VAR_057859 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] VAR_057860 commonName VAR_057860 VAR_057860 disease phenotype-associated VAR_057860 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] VAR_057861 commonName VAR_057861 VAR_057861 disease not phenotype-associated VAR_057862 commonName VAR_057862 VAR_057862 disease phenotype-associated VAR_057862 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] VAR_057863 commonName VAR_057863 VAR_057863 disease phenotype-associated VAR_057863 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] VAR_057864 commonName VAR_057864 VAR_057864 disease phenotype-associated VAR_057864 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] VAR_057865 commonName VAR_057865 VAR_057865 disease phenotype-associated VAR_057865 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] VAR_057866 commonName VAR_057866 VAR_057866 disease phenotype-associated VAR_057866 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] VAR_057867 commonName VAR_057867 VAR_057867 disease not phenotype-associated VAR_057868 commonName VAR_057868 VAR_057868 disease phenotype-associated VAR_057868 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] VAR_057869 commonName VAR_057869 VAR_057870 commonName VAR_057870 VAR_057870 disease phenotype-associated VAR_057870 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] VAR_057871 commonName VAR_057871 VAR_057871 disease phenotype-associated VAR_057871 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] VAR_057872 commonName VAR_057872 VAR_057872 disease phenotype-associated VAR_057872 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] VAR_057873 commonName VAR_057873 VAR_057873 disease phenotype-associated VAR_057873 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] VAR_057874 commonName VAR_057874 VAR_057874 disease phenotype-associated VAR_057874 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] VAR_057875 commonName VAR_057875 VAR_057875 disease phenotype-associated VAR_057875 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] VAR_057876 commonName VAR_057876 VAR_057876 disease phenotype-associated VAR_057876 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] VAR_057878 commonName VAR_057878 VAR_057878 disease phenotype-associated VAR_057878 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] VAR_057879 commonName VAR_057879 VAR_057879 disease not phenotype-associated VAR_057880 commonName VAR_057880 VAR_057880 disease phenotype-associated VAR_057880 phenoCommon Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601] VAR_057881 commonName VAR_057881 VAR_057881 disease phenotype-associated VAR_057881 phenoCommon Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130] VAR_057882 commonName VAR_057882 VAR_057882 disease not phenotype-associated VAR_057883 commonName VAR_057883 VAR_057883 disease not phenotype-associated VAR_057886 commonName VAR_057886 VAR_057887 commonName VAR_057887 VAR_057888 commonName VAR_057888 VAR_057889 commonName VAR_057889 VAR_057890 commonName VAR_057890 VAR_057891 commonName VAR_057891 VAR_057892 commonName VAR_057892 VAR_057893 commonName VAR_057893 VAR_057894 commonName VAR_057894 VAR_057895 commonName VAR_057895 VAR_057895 disease not phenotype-associated VAR_057896 commonName VAR_057896 VAR_057896 disease not phenotype-associated VAR_057897 commonName VAR_057897 VAR_057897 disease not phenotype-associated VAR_057898 commonName VAR_057898 VAR_057898 disease not phenotype-associated VAR_057899 commonName VAR_057899 VAR_057899 disease not phenotype-associated VAR_057900 commonName VAR_057900 VAR_057900 disease not phenotype-associated VAR_057901 commonName VAR_057901 VAR_057901 disease phenotype-associated VAR_057901 phenoCommon Arthrogryposis-renal dysfunction-cholestasis syndrome type 1 (ARCS1) [MIM:208085] VAR_057902 commonName VAR_057902 VAR_057902 disease phenotype-associated VAR_057902 phenoCommon Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000] VAR_057902 phenoCommon Ehlers-Danlos syndrome type 2 (EDS2) [MIM:130010] VAR_057903 commonName VAR_057903 VAR_057903 disease phenotype-associated VAR_057903 phenoCommon Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000] VAR_057903 phenoCommon Ehlers-Danlos syndrome type 2 (EDS2) [MIM:130010] VAR_057904 commonName VAR_057904 VAR_057905 commonName VAR_057905 VAR_057906 commonName VAR_057906 VAR_057907 commonName VAR_057907 VAR_057908 commonName VAR_057908 VAR_057908 disease not phenotype-associated VAR_057909 commonName VAR_057909 VAR_057909 disease phenotype-associated VAR_057909 phenoCommon Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000] VAR_057909 phenoCommon Ehlers-Danlos syndrome type 2 (EDS2) [MIM:130010] VAR_057910 commonName VAR_057910 VAR_057910 disease not phenotype-associated VAR_057911 commonName VAR_057911 VAR_057911 disease not phenotype-associated VAR_057912 commonName VAR_057912 VAR_057912 disease not phenotype-associated VAR_057913 commonName VAR_057913 VAR_057913 disease not phenotype-associated VAR_057914 commonName VAR_057914 VAR_057914 disease phenotype-associated VAR_057914 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_057915 commonName VAR_057915 VAR_057915 disease phenotype-associated VAR_057915 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_057916 commonName VAR_057916 VAR_057916 disease phenotype-associated VAR_057916 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_057917 commonName VAR_057917 VAR_057917 disease phenotype-associated VAR_057917 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_057918 commonName VAR_057918 VAR_057918 disease phenotype-associated VAR_057918 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_057919 commonName VAR_057919 VAR_057919 disease phenotype-associated VAR_057919 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_057920 commonName VAR_057920 VAR_057920 disease phenotype-associated VAR_057920 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_057921 commonName VAR_057921 VAR_057921 disease phenotype-associated VAR_057921 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_057922 commonName VAR_057922 VAR_057922 disease phenotype-associated VAR_057922 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_057923 commonName VAR_057923 VAR_057923 disease phenotype-associated VAR_057923 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_057924 commonName VAR_057924 VAR_057924 disease phenotype-associated VAR_057924 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_057925 commonName VAR_057925 VAR_057925 disease phenotype-associated VAR_057925 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_057926 commonName VAR_057926 VAR_057926 disease phenotype-associated VAR_057926 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_057927 commonName VAR_057927 VAR_057927 disease phenotype-associated VAR_057927 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_057928 commonName VAR_057928 VAR_057928 disease phenotype-associated VAR_057928 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_057929 commonName VAR_057929 VAR_057929 disease phenotype-associated VAR_057929 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_057930 commonName VAR_057930 VAR_057930 disease phenotype-associated VAR_057930 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_057931 commonName VAR_057931 VAR_057931 disease phenotype-associated VAR_057931 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_057932 commonName VAR_057932 VAR_057932 disease phenotype-associated VAR_057932 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_057933 commonName VAR_057933 VAR_057933 disease phenotype-associated VAR_057933 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_057934 commonName VAR_057934 VAR_057934 disease phenotype-associated VAR_057934 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_057935 commonName VAR_057935 VAR_057935 disease phenotype-associated VAR_057935 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_057936 commonName VAR_057936 VAR_057936 disease phenotype-associated VAR_057936 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_057937 commonName VAR_057937 VAR_057937 disease phenotype-associated VAR_057937 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_057938 commonName VAR_057938 VAR_057938 disease phenotype-associated VAR_057938 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_057939 commonName VAR_057939 VAR_057939 disease phenotype-associated VAR_057939 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_057940 commonName VAR_057940 VAR_057940 disease phenotype-associated VAR_057940 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_057941 commonName VAR_057941 VAR_057941 disease phenotype-associated VAR_057941 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_057942 commonName VAR_057942 VAR_057942 disease phenotype-associated VAR_057942 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_057943 commonName VAR_057943 VAR_057943 disease phenotype-associated VAR_057943 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_057944 commonName VAR_057944 VAR_057944 disease phenotype-associated VAR_057944 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_057945 commonName VAR_057945 VAR_057945 disease phenotype-associated VAR_057945 phenoCommon Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] VAR_057946 commonName VAR_057946 VAR_057946 disease not phenotype-associated VAR_057947 commonName VAR_057947 VAR_057947 disease not phenotype-associated VAR_057948 commonName VAR_057948 VAR_057948 disease not phenotype-associated VAR_057949 commonName VAR_057949 VAR_057949 disease not phenotype-associated VAR_057950 commonName VAR_057950 VAR_057950 disease not phenotype-associated VAR_057951 commonName VAR_057951 VAR_057951 disease not phenotype-associated VAR_057953 commonName VAR_057953 VAR_057954 commonName VAR_057954 VAR_057954 disease phenotype-associated VAR_057954 phenoCommon Chanarin-Dorfman syndrome (CDS) [MIM:275630] VAR_057955 commonName VAR_057955 VAR_057955 disease not phenotype-associated VAR_057956 commonName VAR_057956 VAR_057956 disease not phenotype-associated VAR_057957 commonName VAR_057957 VAR_057957 disease not phenotype-associated VAR_057958 commonName VAR_057958 VAR_057958 disease not phenotype-associated VAR_057959 commonName VAR_057959 VAR_057960 commonName VAR_057960 VAR_057961 commonName VAR_057961 VAR_057961 disease phenotype-associated VAR_057961 phenoCommon Cone-rod dystrophy type 12 (CORD12) [MIM:612657] VAR_057961 phenoCommon Retinal macular dystrophy type 2 (MCDR2) [MIM:608051] VAR_057961 phenoCommon Stargardt disease type 4 (STGD4) [MIM:603786] VAR_057962 commonName VAR_057962 VAR_057962 disease phenotype-associated VAR_057962 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110] VAR_057963 commonName VAR_057963 VAR_057963 disease phenotype-associated VAR_057963 phenoCommon Kallmann syndrome type 6 (KAL6) [MIM:612702] VAR_057964 commonName VAR_057964 VAR_057964 disease phenotype-associated VAR_057964 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110] VAR_057965 commonName VAR_057965 VAR_057965 disease phenotype-associated VAR_057965 phenoCommon Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110] VAR_057966 commonName VAR_057966 VAR_057966 disease phenotype-associated VAR_057966 phenoCommon Kallmann syndrome type 6 (KAL6) [MIM:612702] VAR_057968 commonName VAR_057968 VAR_057968 disease not phenotype-associated VAR_057969 commonName VAR_057969 VAR_057969 disease not phenotype-associated VAR_057970 commonName VAR_057970 VAR_057970 disease not phenotype-associated VAR_057971 commonName VAR_057971 VAR_057971 disease not phenotype-associated VAR_057972 commonName VAR_057972 VAR_057972 disease not phenotype-associated VAR_057973 commonName VAR_057973 VAR_057973 disease not phenotype-associated VAR_057974 commonName VAR_057974 VAR_057974 disease not phenotype-associated VAR_057975 commonName VAR_057975 VAR_057975 disease not phenotype-associated VAR_057976 commonName VAR_057976 VAR_057976 disease not phenotype-associated VAR_057977 commonName VAR_057977 VAR_057977 disease not phenotype-associated VAR_057978 commonName VAR_057978 VAR_057978 disease not phenotype-associated VAR_057979 commonName VAR_057979 VAR_057979 disease not phenotype-associated VAR_057980 commonName VAR_057980 VAR_057980 disease not phenotype-associated VAR_057981 comment A glioma cell line VAR_057981 commonName VAR_057981 VAR_057982 comment A glioma cell line VAR_057982 commonName VAR_057982 VAR_057983 commonName VAR_057983 VAR_057983 disease not phenotype-associated VAR_057984 commonName VAR_057984 VAR_057984 disease not phenotype-associated VAR_057985 commonName VAR_057985 VAR_057985 disease not phenotype-associated VAR_057986 commonName VAR_057986 VAR_057986 disease not phenotype-associated VAR_057987 commonName VAR_057987 VAR_057987 disease not phenotype-associated VAR_057988 commonName VAR_057988 VAR_057988 disease not phenotype-associated VAR_057989 commonName VAR_057989 VAR_057989 disease not phenotype-associated VAR_057990 commonName VAR_057990 VAR_057990 disease not phenotype-associated VAR_057992 commonName VAR_057992 VAR_057992 disease not phenotype-associated VAR_057993 commonName VAR_057993 VAR_057993 disease not phenotype-associated VAR_057994 commonName VAR_057994 VAR_057994 disease phenotype-associated VAR_057994 phenoCommon Endocrine-cerebroosteodysplasia (ECO) [MIM:612651] VAR_057995 commonName VAR_057995 VAR_057995 disease phenotype-associated VAR_057995 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_057996 commonName VAR_057996 VAR_057996 disease phenotype-associated VAR_057996 phenoCommon Familial hemiplegic migraine type 3 (FHM3) [MIM:609634] VAR_057997 commonName VAR_057997 VAR_057997 disease phenotype-associated VAR_057997 phenoCommon Familial hemiplegic migraine type 3 (FHM3) [MIM:609634] VAR_057998 commonName VAR_057998 VAR_057998 disease phenotype-associated VAR_057998 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] VAR_057999 commonName VAR_057999 VAR_057999 disease phenotype-associated VAR_057999 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] VAR_058000 commonName VAR_058000 VAR_058000 disease phenotype-associated VAR_058000 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] VAR_058001 commonName VAR_058001 VAR_058001 disease not phenotype-associated VAR_058002 commonName VAR_058002 VAR_058002 disease not phenotype-associated VAR_058005 commonName VAR_058005 VAR_058005 disease phenotype-associated VAR_058005 phenoCommon Hereditary coproporphyria (HCP) [MIM:121300] VAR_058007 commonName VAR_058007 VAR_058007 disease phenotype-associated VAR_058007 phenoCommon Dystonia DOPA-responsive due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716] VAR_058008 commonName VAR_058008 VAR_058008 disease phenotype-associated VAR_058008 phenoCommon Dystonia DOPA-responsive due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716] VAR_058009 commonName VAR_058009 VAR_058009 disease not phenotype-associated VAR_058010 commonName VAR_058010 VAR_058010 disease not phenotype-associated VAR_058011 commonName VAR_058011 VAR_058011 disease not phenotype-associated VAR_058012 commonName VAR_058012 VAR_058012 disease not phenotype-associated VAR_058014 commonName VAR_058014 VAR_058014 disease not phenotype-associated VAR_058015 commonName VAR_058015 VAR_058015 disease not phenotype-associated VAR_058016 commonName VAR_058016 VAR_058016 disease not phenotype-associated VAR_058017 commonName VAR_058017 VAR_058017 disease not phenotype-associated VAR_058018 commonName VAR_058018 VAR_058018 disease not phenotype-associated VAR_058019 commonName VAR_058019 VAR_058019 disease not phenotype-associated VAR_058020 commonName VAR_058020 VAR_058020 disease not phenotype-associated VAR_058022 commonName VAR_058022 VAR_058022 disease phenotype-associated VAR_058022 phenoCommon Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672] VAR_058023 commonName VAR_058023 VAR_058023 disease phenotype-associated VAR_058023 phenoCommon Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672] VAR_058024 commonName VAR_058024 VAR_058024 disease phenotype-associated VAR_058024 phenoCommon Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672] VAR_058025 commonName VAR_058025 VAR_058025 disease phenotype-associated VAR_058025 phenoCommon Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672] VAR_058026 commonName VAR_058026 VAR_058026 disease phenotype-associated VAR_058026 phenoCommon Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672] VAR_058027 commonName VAR_058027 VAR_058027 disease phenotype-associated VAR_058027 phenoCommon Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672] VAR_058028 commonName VAR_058028 VAR_058028 disease phenotype-associated VAR_058028 phenoCommon Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672] VAR_058029 commonName VAR_058029 VAR_058029 disease phenotype-associated VAR_058029 phenoCommon Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672] VAR_058030 commonName VAR_058030 VAR_058030 disease phenotype-associated VAR_058030 phenoCommon Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672] VAR_058031 commonName VAR_058031 VAR_058031 disease not phenotype-associated VAR_058032 commonName VAR_058032 VAR_058032 disease phenotype-associated VAR_058032 phenoCommon Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672] VAR_058033 commonName VAR_058033 VAR_058033 disease not phenotype-associated VAR_058035 commonName VAR_058035 VAR_058035 disease not phenotype-associated VAR_058036 commonName VAR_058036 VAR_058036 disease not phenotype-associated VAR_058037 commonName VAR_058037 VAR_058038 commonName VAR_058038 VAR_058038 disease phenotype-associated VAR_058038 phenoCommon Spherocytosis type 4 (SPH4) [MIM:612653] VAR_058039 commonName VAR_058039 VAR_058039 disease phenotype-associated VAR_058039 phenoCommon Spherocytosis type 4 (SPH4) [MIM:612653] VAR_058044 commonName VAR_058044 VAR_058044 disease phenotype-associated VAR_058044 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200] VAR_058045 commonName VAR_058045 VAR_058045 disease phenotype-associated VAR_058045 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200] VAR_058046 commonName VAR_058046 VAR_058046 disease phenotype-associated VAR_058046 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] VAR_058047 commonName VAR_058047 VAR_058047 disease phenotype-associated VAR_058047 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] VAR_058048 commonName VAR_058048 VAR_058049 commonName VAR_058049 VAR_058050 commonName VAR_058050 VAR_058050 disease phenotype-associated VAR_058050 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200] VAR_058051 commonName VAR_058051 VAR_058051 disease phenotype-associated VAR_058051 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200] VAR_058052 commonName VAR_058052 VAR_058052 disease phenotype-associated VAR_058052 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200] VAR_058053 commonName VAR_058053 VAR_058053 disease phenotype-associated VAR_058053 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200] VAR_058054 commonName VAR_058054 VAR_058054 disease phenotype-associated VAR_058054 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200] VAR_058055 commonName VAR_058055 VAR_058055 disease phenotype-associated VAR_058055 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200] VAR_058056 commonName VAR_058056 VAR_058057 commonName VAR_058057 VAR_058057 disease phenotype-associated VAR_058057 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] VAR_058058 commonName VAR_058058 VAR_058058 disease phenotype-associated VAR_058058 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200] VAR_058059 commonName VAR_058059 VAR_058060 commonName VAR_058060 VAR_058061 commonName VAR_058061 VAR_058062 commonName VAR_058062 VAR_058063 commonName VAR_058063 VAR_058064 commonName VAR_058064 VAR_058064 disease phenotype-associated VAR_058064 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] VAR_058065 commonName VAR_058065 VAR_058066 commonName VAR_058066 VAR_058066 disease phenotype-associated VAR_058066 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] VAR_058067 commonName VAR_058067 VAR_058068 commonName VAR_058068 VAR_058069 commonName VAR_058069 VAR_058069 disease phenotype-associated VAR_058069 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] VAR_058070 commonName VAR_058070 VAR_058070 disease phenotype-associated VAR_058070 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200] VAR_058071 commonName VAR_058071 VAR_058071 disease phenotype-associated VAR_058071 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200] VAR_058072 commonName VAR_058072 VAR_058073 commonName VAR_058073 VAR_058073 disease phenotype-associated VAR_058073 phenoCommon Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200] VAR_058074 commonName VAR_058074 VAR_058075 commonName VAR_058075 VAR_058075 disease phenotype-associated VAR_058075 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200] VAR_058076 commonName VAR_058076 VAR_058077 commonName VAR_058077 VAR_058078 commonName VAR_058078 VAR_058079 commonName VAR_058079 VAR_058079 disease phenotype-associated VAR_058079 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200] VAR_058080 commonName VAR_058080 VAR_058080 disease phenotype-associated VAR_058080 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200] VAR_058081 commonName VAR_058081 VAR_058081 disease phenotype-associated VAR_058081 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200] VAR_058082 commonName VAR_058082 VAR_058082 disease phenotype-associated VAR_058082 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200] VAR_058083 commonName VAR_058083 VAR_058083 disease phenotype-associated VAR_058083 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] VAR_058084 commonName VAR_058084 VAR_058085 commonName VAR_058085 VAR_058085 disease not phenotype-associated VAR_058086 commonName VAR_058086 VAR_058088 commonName VAR_058088 VAR_058088 disease not phenotype-associated VAR_058089 commonName VAR_058089 VAR_058089 disease not phenotype-associated VAR_058091 commonName VAR_058091 VAR_058091 disease not phenotype-associated VAR_058092 commonName VAR_058092 VAR_058092 disease not phenotype-associated VAR_058093 commonName VAR_058093 VAR_058093 disease phenotype-associated VAR_058093 phenoCommon Anemia sideroblastic pyridoxine-refractory autosomal recessive (PRARSA) [MIM:205950] VAR_058094 commonName VAR_058094 VAR_058094 disease phenotype-associated VAR_058094 phenoCommon Anemia sideroblastic pyridoxine-refractory autosomal recessive (PRARSA) [MIM:205950] VAR_058095 commonName VAR_058095 VAR_058095 disease phenotype-associated VAR_058095 phenoCommon Anemia sideroblastic pyridoxine-refractory autosomal recessive (PRARSA) [MIM:205950] VAR_058096 commonName VAR_058096 VAR_058096 disease phenotype-associated VAR_058096 phenoCommon Anemia sideroblastic pyridoxine-refractory autosomal recessive (PRARSA) [MIM:205950] VAR_058097 commonName VAR_058097 VAR_058097 disease phenotype-associated VAR_058097 phenoCommon Mitochondrial complex II deficiency (MT-C2D) [MIM:252011] VAR_058098 commonName VAR_058098 VAR_058098 disease phenotype-associated VAR_058098 phenoCommon Mitochondrial complex II deficiency (MT-C2D) [MIM:252011] VAR_058099 commonName VAR_058099 VAR_058099 disease phenotype-associated VAR_058099 phenoCommon Spherocytosis type 5 (SPH5) [MIM:612690] VAR_058100 commonName VAR_058100 VAR_058100 disease phenotype-associated VAR_058100 phenoCommon Spherocytosis type 5 (SPH5) [MIM:612690] VAR_058101 commonName VAR_058101 VAR_058101 disease phenotype-associated VAR_058101 phenoCommon Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis (EPIDACH) [MIM:612714] VAR_058102 commonName VAR_058102 VAR_058102 disease phenotype-associated VAR_058102 phenoCommon Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736] VAR_058103 commonName VAR_058103 VAR_058103 disease phenotype-associated VAR_058103 phenoCommon Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736] VAR_058104 commonName VAR_058104 VAR_058104 disease phenotype-associated VAR_058104 phenoCommon Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736] VAR_058105 commonName VAR_058105 VAR_058105 disease phenotype-associated VAR_058105 phenoCommon Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736] VAR_058106 commonName VAR_058106 VAR_058106 disease phenotype-associated VAR_058106 phenoCommon Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736] VAR_058107 commonName VAR_058107 VAR_058107 disease phenotype-associated VAR_058107 phenoCommon Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736] VAR_058108 commonName VAR_058108 VAR_058109 commonName VAR_058109 VAR_058110 commonName VAR_058110 VAR_058111 commonName VAR_058111 VAR_058112 commonName VAR_058112 VAR_058112 disease phenotype-associated VAR_058112 phenoCommon Autosomal dominant hypercarotenemia and vitamin A deficiency (ADHVAD) [MIM:115300] VAR_058113 commonName VAR_058113 VAR_058113 disease phenotype-associated VAR_058113 phenoCommon Congenital clubfoot (CCF) [MIM:119800] VAR_058114 commonName VAR_058114 VAR_058114 disease not phenotype-associated VAR_058115 commonName VAR_058115 VAR_058115 disease not phenotype-associated VAR_058116 commonName VAR_058116 VAR_058116 disease phenotype-associated VAR_058116 phenoCommon Chorea-acanthocytosis (CHAC) [MIM:200150] VAR_058117 commonName VAR_058117 VAR_058117 disease not phenotype-associated VAR_058118 commonName VAR_058118 VAR_058118 disease not phenotype-associated VAR_058119 commonName VAR_058119 VAR_058119 disease not phenotype-associated VAR_058120 commonName VAR_058120 VAR_058120 disease phenotype-associated VAR_058120 phenoCommon Chorea-acanthocytosis (CHAC) [MIM:200150] VAR_058121 commonName VAR_058121 VAR_058121 disease not phenotype-associated VAR_058122 commonName VAR_058122 VAR_058122 disease not phenotype-associated VAR_058123 commonName VAR_058123 VAR_058123 disease not phenotype-associated VAR_058124 commonName VAR_058124 VAR_058124 disease not phenotype-associated VAR_058125 commonName VAR_058125 VAR_058125 disease not phenotype-associated VAR_058128 commonName VAR_058128 VAR_058128 disease not phenotype-associated VAR_058129 commonName VAR_058129 VAR_058129 disease not phenotype-associated VAR_058130 commonName VAR_058130 VAR_058130 disease not phenotype-associated VAR_058131 comment Chronic myelomonocytic leukemia VAR_058131 commonName VAR_058131 VAR_058132 commonName VAR_058132 VAR_058132 disease not phenotype-associated VAR_058133 commonName VAR_058133 VAR_058134 commonName VAR_058134 VAR_058134 disease not phenotype-associated VAR_058135 commonName VAR_058135 VAR_058136 commonName VAR_058136 VAR_058136 disease not phenotype-associated VAR_058137 commonName VAR_058137 VAR_058137 disease not phenotype-associated VAR_058138 comment A chronic myelomonocytic leukemia sample VAR_058138 commonName VAR_058138 VAR_058171 commonName VAR_058171 VAR_058171 disease not phenotype-associated VAR_058172 comment A chronic myelomonocytic leukemia sample VAR_058172 commonName VAR_058172 VAR_058173 commonName VAR_058173 VAR_058173 disease not phenotype-associated VAR_058174 comment An acute myeloid leukemia sample VAR_058174 commonName VAR_058174 VAR_058175 comment A chronic myelomonocytic leukemia sample VAR_058175 commonName VAR_058175 VAR_058176 comment A chronic myelomonocytic leukemia sample VAR_058176 commonName VAR_058176 VAR_058177 commonName VAR_058177 VAR_058177 disease not phenotype-associated VAR_058178 comment A chronic myelomonocytic leukemia sample VAR_058178 commonName VAR_058178 VAR_058179 commonName VAR_058179 VAR_058179 disease not phenotype-associated VAR_058180 commonName VAR_058180 VAR_058180 disease not phenotype-associated VAR_058181 commonName VAR_058181 VAR_058199 commonName VAR_058199 VAR_058199 disease not phenotype-associated VAR_058200 commonName VAR_058200 VAR_058200 disease not phenotype-associated VAR_058201 commonName VAR_058201 VAR_058201 disease not phenotype-associated VAR_058202 commonName VAR_058202 VAR_058202 disease not phenotype-associated VAR_058203 commonName VAR_058203 VAR_058203 disease not phenotype-associated VAR_058204 commonName VAR_058204 VAR_058204 disease not phenotype-associated VAR_058205 commonName VAR_058205 VAR_058205 disease not phenotype-associated VAR_058206 commonName VAR_058206 VAR_058206 disease not phenotype-associated VAR_058207 commonName VAR_058207 VAR_058207 disease not phenotype-associated VAR_058208 commonName VAR_058208 VAR_058208 disease not phenotype-associated VAR_058209 commonName VAR_058209 VAR_058209 disease not phenotype-associated VAR_058210 commonName VAR_058210 VAR_058210 disease phenotype-associated VAR_058210 phenoCommon Hereditary folate malabsorption (HFM) [MIM:229050] VAR_058211 commonName VAR_058211 VAR_058211 disease phenotype-associated VAR_058211 phenoCommon Hereditary fructose intolerance (HFI) [MIM:229600] VAR_058212 commonName VAR_058212 VAR_058212 disease phenotype-associated VAR_058212 phenoCommon Hereditary fructose intolerance (HFI) [MIM:229600] VAR_058213 commonName VAR_058213 VAR_058213 disease phenotype-associated VAR_058213 phenoCommon Bethlem myopathy (BM) [MIM:158810] VAR_058214 commonName VAR_058214 VAR_058214 disease phenotype-associated VAR_058214 phenoCommon Bethlem myopathy (BM) [MIM:158810] VAR_058215 commonName VAR_058215 VAR_058215 disease phenotype-associated VAR_058215 phenoCommon Bethlem myopathy (BM) [MIM:158810] VAR_058216 commonName VAR_058216 VAR_058216 disease phenotype-associated VAR_058216 phenoCommon Bethlem myopathy (BM) [MIM:158810] VAR_058217 commonName VAR_058217 VAR_058217 disease phenotype-associated VAR_058217 phenoCommon Ullrich congenital muscular dystrophy (UCMD) [MIM:254090] VAR_058218 commonName VAR_058218 VAR_058218 disease phenotype-associated VAR_058218 phenoCommon Ullrich congenital muscular dystrophy (UCMD) [MIM:254090] VAR_058219 commonName VAR_058219 VAR_058219 disease phenotype-associated VAR_058219 phenoCommon Bethlem myopathy (BM) [MIM:158810] VAR_058219 phenoCommon Ullrich congenital muscular dystrophy (UCMD) [MIM:254090] VAR_058220 commonName VAR_058220 VAR_058220 disease not phenotype-associated VAR_058221 commonName VAR_058221 VAR_058221 disease phenotype-associated VAR_058221 phenoCommon Bethlem myopathy (BM) [MIM:158810] VAR_058222 commonName VAR_058222 VAR_058222 disease phenotype-associated VAR_058222 phenoCommon Bethlem myopathy (BM) [MIM:158810] VAR_058223 commonName VAR_058223 VAR_058223 disease not phenotype-associated VAR_058224 commonName VAR_058224 VAR_058224 disease not phenotype-associated VAR_058225 commonName VAR_058225 VAR_058225 disease phenotype-associated VAR_058225 phenoCommon Bethlem myopathy (BM) [MIM:158810] VAR_058226 commonName VAR_058226 VAR_058226 disease phenotype-associated VAR_058226 phenoCommon Ullrich congenital muscular dystrophy (UCMD) [MIM:254090] VAR_058227 commonName VAR_058227 VAR_058227 disease not phenotype-associated VAR_058228 commonName VAR_058228 VAR_058228 disease phenotype-associated VAR_058228 phenoCommon Ullrich congenital muscular dystrophy (UCMD) [MIM:254090] VAR_058229 commonName VAR_058229 VAR_058229 disease not phenotype-associated VAR_058230 commonName VAR_058230 VAR_058230 disease phenotype-associated VAR_058230 phenoCommon Ullrich congenital muscular dystrophy (UCMD) [MIM:254090] VAR_058231 commonName VAR_058231 VAR_058231 disease phenotype-associated VAR_058231 phenoCommon Bethlem myopathy (BM) [MIM:158810] VAR_058232 commonName VAR_058232 VAR_058232 disease not phenotype-associated VAR_058233 commonName VAR_058233 VAR_058233 disease phenotype-associated VAR_058233 phenoCommon Bethlem myopathy (BM) [MIM:158810] VAR_058234 commonName VAR_058234 VAR_058234 disease phenotype-associated VAR_058234 phenoCommon Ullrich congenital muscular dystrophy (UCMD) [MIM:254090] VAR_058235 commonName VAR_058235 VAR_058235 disease not phenotype-associated VAR_058236 commonName VAR_058236 VAR_058236 disease phenotype-associated VAR_058236 phenoCommon Ullrich congenital muscular dystrophy (UCMD) [MIM:254090] VAR_058237 commonName VAR_058237 VAR_058237 disease phenotype-associated VAR_058237 phenoCommon Bethlem myopathy (BM) [MIM:158810] VAR_058238 commonName VAR_058238 VAR_058238 disease phenotype-associated VAR_058238 phenoCommon Ullrich congenital muscular dystrophy (UCMD) [MIM:254090] VAR_058239 commonName VAR_058239 VAR_058239 disease not phenotype-associated VAR_058241 commonName VAR_058241 VAR_058241 disease phenotype-associated VAR_058241 phenoCommon Bethlem myopathy (BM) [MIM:158810] VAR_058242 commonName VAR_058242 VAR_058242 disease not phenotype-associated VAR_058243 commonName VAR_058243 VAR_058243 disease not phenotype-associated VAR_058244 commonName VAR_058244 VAR_058244 disease not phenotype-associated VAR_058245 commonName VAR_058245 VAR_058245 disease phenotype-associated VAR_058245 phenoCommon Bethlem myopathy (BM) [MIM:158810] VAR_058246 commonName VAR_058246 VAR_058246 disease not phenotype-associated VAR_058247 commonName VAR_058247 VAR_058247 disease not phenotype-associated VAR_058248 commonName VAR_058248 VAR_058248 disease phenotype-associated VAR_058248 phenoCommon Bethlem myopathy (BM) [MIM:158810] VAR_058249 commonName VAR_058249 VAR_058249 disease phenotype-associated VAR_058249 phenoCommon Ullrich congenital muscular dystrophy (UCMD) [MIM:254090] VAR_058250 commonName VAR_058250 VAR_058250 disease phenotype-associated VAR_058250 phenoCommon Bethlem myopathy (BM) [MIM:158810] VAR_058251 commonName VAR_058251 VAR_058251 disease phenotype-associated VAR_058251 phenoCommon Ullrich congenital muscular dystrophy (UCMD) [MIM:254090] VAR_058252 commonName VAR_058252 VAR_058252 disease phenotype-associated VAR_058252 phenoCommon Bethlem myopathy (BM) [MIM:158810] VAR_058253 commonName VAR_058253 VAR_058253 disease not phenotype-associated VAR_058254 commonName VAR_058254 VAR_058254 disease not phenotype-associated VAR_058255 commonName VAR_058255 VAR_058255 disease phenotype-associated VAR_058255 phenoCommon Ullrich congenital muscular dystrophy (UCMD) [MIM:254090] VAR_058256 commonName VAR_058256 VAR_058256 disease not phenotype-associated VAR_058257 commonName VAR_058257 VAR_058257 disease phenotype-associated VAR_058257 phenoCommon Bethlem myopathy (BM) [MIM:158810] VAR_058258 commonName VAR_058258 VAR_058258 disease phenotype-associated VAR_058258 phenoCommon Bethlem myopathy (BM) [MIM:158810] VAR_058259 commonName VAR_058259 VAR_058259 disease phenotype-associated VAR_058259 phenoCommon Bethlem myopathy (BM) [MIM:158810] VAR_058260 commonName VAR_058260 VAR_058260 disease phenotype-associated VAR_058260 phenoCommon Bethlem myopathy (BM) [MIM:158810] VAR_058261 commonName VAR_058261 VAR_058261 disease phenotype-associated VAR_058261 phenoCommon Bethlem myopathy (BM) [MIM:158810] VAR_058262 commonName VAR_058262 VAR_058262 disease not phenotype-associated VAR_058263 commonName VAR_058263 VAR_058263 disease not phenotype-associated VAR_058264 commonName VAR_058264 VAR_058264 disease phenotype-associated VAR_058264 phenoCommon Bethlem myopathy (BM) [MIM:158810] VAR_058265 commonName VAR_058265 VAR_058265 disease phenotype-associated VAR_058265 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] VAR_058266 commonName VAR_058266 VAR_058266 disease phenotype-associated VAR_058266 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] VAR_058267 commonName VAR_058267 VAR_058267 disease phenotype-associated VAR_058267 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] VAR_058268 commonName VAR_058268 VAR_058268 disease phenotype-associated VAR_058268 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] VAR_058269 commonName VAR_058269 VAR_058269 disease phenotype-associated VAR_058269 phenoCommon BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640] VAR_058272 commonName VAR_058272 VAR_058272 disease not phenotype-associated VAR_058273 commonName VAR_058273 VAR_058273 disease phenotype-associated VAR_058273 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_058274 commonName VAR_058274 VAR_058274 disease phenotype-associated VAR_058274 phenoCommon Vitreoretinochoroidopathy autosomal dominant (ADVIRC) [MIM:193220] VAR_058275 commonName VAR_058275 VAR_058275 disease phenotype-associated VAR_058275 phenoCommon Vitreoretinochoroidopathy autosomal dominant (ADVIRC) [MIM:193220] VAR_058276 commonName VAR_058276 VAR_058276 disease phenotype-associated VAR_058276 phenoCommon Vitreoretinochoroidopathy autosomal dominant (ADVIRC) [MIM:193220] VAR_058277 commonName VAR_058277 VAR_058277 disease phenotype-associated VAR_058277 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_058285 commonName VAR_058285 VAR_058285 disease not phenotype-associated VAR_058286 commonName VAR_058286 VAR_058286 disease not phenotype-associated VAR_058290 commonName VAR_058290 VAR_058290 disease not phenotype-associated VAR_058291 commonName VAR_058291 VAR_058291 disease not phenotype-associated VAR_058292 commonName VAR_058292 VAR_058292 disease not phenotype-associated VAR_058293 commonName VAR_058293 VAR_058293 disease not phenotype-associated VAR_058294 commonName VAR_058294 VAR_058294 disease not phenotype-associated VAR_058296 commonName VAR_058296 VAR_058296 disease not phenotype-associated VAR_058298 commonName VAR_058298 VAR_058298 disease not phenotype-associated VAR_058299 commonName VAR_058299 VAR_058299 disease not phenotype-associated VAR_058300 commonName VAR_058300 VAR_058300 disease not phenotype-associated VAR_058301 commonName VAR_058301 VAR_058301 disease not phenotype-associated VAR_058302 commonName VAR_058302 VAR_058302 disease not phenotype-associated VAR_058303 commonName VAR_058303 VAR_058303 disease not phenotype-associated VAR_058304 commonName VAR_058304 VAR_058304 disease not phenotype-associated VAR_058305 commonName VAR_058305 VAR_058305 disease not phenotype-associated VAR_058306 commonName VAR_058306 VAR_058306 disease not phenotype-associated VAR_058307 commonName VAR_058307 VAR_058307 disease not phenotype-associated VAR_058308 commonName VAR_058308 VAR_058308 disease not phenotype-associated VAR_058310 commonName VAR_058310 VAR_058310 disease not phenotype-associated VAR_058313 commonName VAR_058313 VAR_058313 disease phenotype-associated VAR_058313 phenoCommon Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700] VAR_058314 commonName VAR_058314 VAR_058314 disease not phenotype-associated VAR_058315 commonName VAR_058315 VAR_058315 disease phenotype-associated VAR_058315 phenoCommon Non-syndromic orofacial cleft type 11 (OFC11) [MIM:600625] VAR_058316 commonName VAR_058316 VAR_058316 disease not phenotype-associated VAR_058317 commonName VAR_058317 VAR_058317 disease phenotype-associated VAR_058317 phenoCommon Non-syndromic orofacial cleft type 11 (OFC11) [MIM:600625] VAR_058318 commonName VAR_058318 VAR_058318 disease phenotype-associated VAR_058318 phenoCommon Non-syndromic orofacial cleft type 11 (OFC11) [MIM:600625] VAR_058319 commonName VAR_058319 VAR_058319 disease phenotype-associated VAR_058319 phenoCommon Jalili syndrome (JALIS) [MIM:217080] VAR_058320 commonName VAR_058320 VAR_058320 disease phenotype-associated VAR_058320 phenoCommon Jalili syndrome (JALIS) [MIM:217080] VAR_058321 commonName VAR_058321 VAR_058321 disease phenotype-associated VAR_058321 phenoCommon Jalili syndrome (JALIS) [MIM:217080] VAR_058322 commonName VAR_058322 VAR_058322 disease phenotype-associated VAR_058322 phenoCommon Jalili syndrome (JALIS) [MIM:217080] VAR_058323 commonName VAR_058323 VAR_058323 disease not phenotype-associated VAR_058324 commonName VAR_058324 VAR_058324 disease not phenotype-associated VAR_058325 commonName VAR_058325 VAR_058325 disease not phenotype-associated VAR_058326 commonName VAR_058326 VAR_058326 disease not phenotype-associated VAR_058327 commonName VAR_058327 VAR_058327 disease not phenotype-associated VAR_058328 commonName VAR_058328 VAR_058328 disease not phenotype-associated VAR_058329 commonName VAR_058329 VAR_058329 disease not phenotype-associated VAR_058330 commonName VAR_058330 VAR_058330 disease not phenotype-associated VAR_058331 commonName VAR_058331 VAR_058331 disease not phenotype-associated VAR_058332 commonName VAR_058332 VAR_058332 disease not phenotype-associated VAR_058333 commonName VAR_058333 VAR_058333 disease not phenotype-associated VAR_058334 commonName VAR_058334 VAR_058334 disease not phenotype-associated VAR_058335 commonName VAR_058335 VAR_058335 disease not phenotype-associated VAR_058336 commonName VAR_058336 VAR_058336 disease not phenotype-associated VAR_058337 commonName VAR_058337 VAR_058337 disease phenotype-associated VAR_058337 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_058338 commonName VAR_058338 VAR_058338 disease phenotype-associated VAR_058338 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_058339 commonName VAR_058339 VAR_058339 disease phenotype-associated VAR_058339 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_058340 commonName VAR_058340 VAR_058340 disease phenotype-associated VAR_058340 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_058341 commonName VAR_058341 VAR_058341 disease phenotype-associated VAR_058341 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_058342 commonName VAR_058342 VAR_058342 disease phenotype-associated VAR_058342 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_058343 commonName VAR_058343 VAR_058343 disease phenotype-associated VAR_058343 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_058344 commonName VAR_058344 VAR_058344 disease phenotype-associated VAR_058344 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_058345 commonName VAR_058345 VAR_058345 disease phenotype-associated VAR_058345 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_058346 commonName VAR_058346 VAR_058346 disease phenotype-associated VAR_058346 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_058347 commonName VAR_058347 VAR_058347 disease phenotype-associated VAR_058347 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_058348 commonName VAR_058348 VAR_058348 disease phenotype-associated VAR_058348 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_058349 commonName VAR_058349 VAR_058349 disease phenotype-associated VAR_058349 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_058350 commonName VAR_058350 VAR_058350 disease phenotype-associated VAR_058350 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_058351 commonName VAR_058351 VAR_058351 disease phenotype-associated VAR_058351 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_058352 commonName VAR_058352 VAR_058352 disease phenotype-associated VAR_058352 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_058353 commonName VAR_058353 VAR_058353 disease phenotype-associated VAR_058353 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_058354 commonName VAR_058354 VAR_058354 disease phenotype-associated VAR_058354 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_058355 commonName VAR_058355 VAR_058355 disease phenotype-associated VAR_058355 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_058356 commonName VAR_058356 VAR_058356 disease phenotype-associated VAR_058356 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_058357 commonName VAR_058357 VAR_058357 disease phenotype-associated VAR_058357 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_058358 commonName VAR_058358 VAR_058358 disease phenotype-associated VAR_058358 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_058359 commonName VAR_058359 VAR_058359 disease phenotype-associated VAR_058359 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_058360 commonName VAR_058360 VAR_058360 disease phenotype-associated VAR_058360 phenoCommon Citrullinemia type 1 (CTLN1) [MIM:215700] VAR_058361 commonName VAR_058361 VAR_058361 disease not phenotype-associated VAR_058362 commonName VAR_058362 VAR_058362 disease not phenotype-associated VAR_058363 commonName VAR_058363 VAR_058363 disease not phenotype-associated VAR_058364 commonName VAR_058364 VAR_058364 disease phenotype-associated VAR_058364 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050] VAR_058365 commonName VAR_058365 VAR_058365 disease phenotype-associated VAR_058365 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050] VAR_058366 commonName VAR_058366 VAR_058366 disease phenotype-associated VAR_058366 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050] VAR_058367 commonName VAR_058367 VAR_058367 disease phenotype-associated VAR_058367 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050] VAR_058368 commonName VAR_058368 VAR_058368 disease phenotype-associated VAR_058368 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050] VAR_058369 commonName VAR_058369 VAR_058369 disease phenotype-associated VAR_058369 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050] VAR_058370 commonName VAR_058370 VAR_058370 disease phenotype-associated VAR_058370 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050] VAR_058371 commonName VAR_058371 VAR_058371 disease phenotype-associated VAR_058371 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050] VAR_058372 commonName VAR_058372 VAR_058372 disease phenotype-associated VAR_058372 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050] VAR_058373 commonName VAR_058373 VAR_058373 disease phenotype-associated VAR_058373 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050] VAR_058374 commonName VAR_058374 VAR_058374 disease phenotype-associated VAR_058374 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050] VAR_058375 commonName VAR_058375 VAR_058375 disease phenotype-associated VAR_058375 phenoCommon Distal arthrogryposis type 9 (DA9) [MIM:121050] VAR_058376 commonName VAR_058376 VAR_058376 disease phenotype-associated VAR_058376 phenoCommon Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:602136] VAR_058377 commonName VAR_058377 VAR_058377 disease phenotype-associated VAR_058377 phenoCommon Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:602136] VAR_058378 commonName VAR_058378 VAR_058378 disease phenotype-associated VAR_058378 phenoCommon Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:602136] VAR_058379 commonName VAR_058379 VAR_058379 disease not phenotype-associated VAR_058381 commonName VAR_058381 VAR_058381 disease not phenotype-associated VAR_058382 commonName VAR_058382 VAR_058382 disease phenotype-associated VAR_058382 phenoCommon Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498] VAR_058383 commonName VAR_058383 VAR_058383 disease not phenotype-associated VAR_058384 commonName VAR_058384 VAR_058384 disease phenotype-associated VAR_058384 phenoCommon Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498] VAR_058385 commonName VAR_058385 VAR_058385 disease phenotype-associated VAR_058385 phenoCommon Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498] VAR_058386 commonName VAR_058386 VAR_058386 disease phenotype-associated VAR_058386 phenoCommon Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498] VAR_058387 commonName VAR_058387 VAR_058387 disease not phenotype-associated VAR_058388 commonName VAR_058388 VAR_058388 disease not phenotype-associated VAR_058389 commonName VAR_058389 VAR_058389 disease phenotype-associated VAR_058389 phenoCommon Peroxisome biogenesis disorder complementation group 3 (PBD-CG3) [MIM:601758] VAR_058392 comment A lung cancer cell line VAR_058392 commonName VAR_058392 VAR_058394 comment A lung cancer cell line VAR_058394 commonName VAR_058394 VAR_058395 commonName VAR_058395 VAR_058395 disease not phenotype-associated VAR_058396 commonName VAR_058396 VAR_058396 disease not phenotype-associated VAR_058397 commonName VAR_058397 VAR_058397 disease not phenotype-associated VAR_058398 commonName VAR_058398 VAR_058398 disease not phenotype-associated VAR_058399 commonName VAR_058399 VAR_058399 disease not phenotype-associated VAR_058400 commonName VAR_058400 VAR_058400 disease not phenotype-associated VAR_058401 commonName VAR_058401 VAR_058401 disease not phenotype-associated VAR_058402 commonName VAR_058402 VAR_058402 disease not phenotype-associated VAR_058403 commonName VAR_058403 VAR_058403 disease not phenotype-associated VAR_058404 commonName VAR_058404 VAR_058404 disease not phenotype-associated VAR_058405 commonName VAR_058405 VAR_058405 disease not phenotype-associated VAR_058406 commonName VAR_058406 VAR_058406 disease not phenotype-associated VAR_058408 commonName VAR_058408 VAR_058408 disease not phenotype-associated VAR_058409 commonName VAR_058409 VAR_058409 disease not phenotype-associated VAR_058410 commonName VAR_058410 VAR_058410 disease not phenotype-associated VAR_058411 commonName VAR_058411 VAR_058411 disease not phenotype-associated VAR_058412 commonName VAR_058412 VAR_058412 disease not phenotype-associated VAR_058413 commonName VAR_058413 VAR_058413 disease not phenotype-associated VAR_058414 commonName VAR_058414 VAR_058414 disease not phenotype-associated VAR_058415 commonName VAR_058415 VAR_058415 disease not phenotype-associated VAR_058416 commonName VAR_058416 VAR_058416 disease not phenotype-associated VAR_058417 commonName VAR_058417 VAR_058417 disease phenotype-associated VAR_058417 phenoCommon Spastic paraplegia autosomal recessive type 11 (SPG11) [MIM:604360] VAR_058419 commonName VAR_058419 VAR_058419 disease phenotype-associated VAR_058419 phenoCommon Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] VAR_058420 commonName VAR_058420 VAR_058420 disease phenotype-associated VAR_058420 phenoCommon Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] VAR_058421 commonName VAR_058421 VAR_058421 disease phenotype-associated VAR_058421 phenoCommon Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] VAR_058422 commonName VAR_058422 VAR_058422 disease phenotype-associated VAR_058422 phenoCommon Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] VAR_058423 commonName VAR_058423 VAR_058423 disease phenotype-associated VAR_058423 phenoCommon Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] VAR_058424 commonName VAR_058424 VAR_058424 disease phenotype-associated VAR_058424 phenoCommon Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] VAR_058425 commonName VAR_058425 VAR_058425 disease phenotype-associated VAR_058425 phenoCommon Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] VAR_058426 commonName VAR_058426 VAR_058427 commonName VAR_058427 VAR_058427 disease phenotype-associated VAR_058427 phenoCommon Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951] VAR_058428 commonName VAR_058428 VAR_058428 disease phenotype-associated VAR_058428 phenoCommon Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951] VAR_058429 commonName VAR_058429 VAR_058429 disease phenotype-associated VAR_058429 phenoCommon Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951] VAR_058430 commonName VAR_058430 VAR_058430 disease phenotype-associated VAR_058430 phenoCommon Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951] VAR_058431 commonName VAR_058431 VAR_058431 disease phenotype-associated VAR_058431 phenoCommon Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951] VAR_058432 commonName VAR_058432 VAR_058432 disease phenotype-associated VAR_058432 phenoCommon Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951] VAR_058433 commonName VAR_058433 VAR_058433 disease phenotype-associated VAR_058433 phenoCommon Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951] VAR_058434 commonName VAR_058434 VAR_058434 disease phenotype-associated VAR_058434 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] VAR_058436 commonName VAR_058436 VAR_058436 disease phenotype-associated VAR_058436 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780] VAR_058437 commonName VAR_058437 VAR_058437 disease phenotype-associated VAR_058437 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780] VAR_058438 commonName VAR_058438 VAR_058438 disease phenotype-associated VAR_058438 phenoCommon Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143] VAR_058439 commonName VAR_058439 VAR_058439 disease phenotype-associated VAR_058439 phenoCommon Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143] VAR_058440 commonName VAR_058440 VAR_058440 disease phenotype-associated VAR_058440 phenoCommon 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] VAR_058441 commonName VAR_058441 VAR_058441 disease phenotype-associated VAR_058441 phenoCommon 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] VAR_058442 commonName VAR_058442 VAR_058442 disease phenotype-associated VAR_058442 phenoCommon 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] VAR_058443 commonName VAR_058443 VAR_058443 disease phenotype-associated VAR_058443 phenoCommon 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] VAR_058444 commonName VAR_058444 VAR_058444 disease phenotype-associated VAR_058444 phenoCommon 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] VAR_058445 commonName VAR_058445 VAR_058445 disease phenotype-associated VAR_058445 phenoCommon 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] VAR_058446 commonName VAR_058446 VAR_058446 disease phenotype-associated VAR_058446 phenoCommon 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] VAR_058447 commonName VAR_058447 VAR_058447 disease phenotype-associated VAR_058447 phenoCommon 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] VAR_058448 commonName VAR_058448 VAR_058448 disease phenotype-associated VAR_058448 phenoCommon 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] VAR_058451 commonName VAR_058451 VAR_058451 disease not phenotype-associated VAR_058452 commonName VAR_058452 VAR_058452 disease not phenotype-associated VAR_058453 commonName VAR_058453 VAR_058453 disease not phenotype-associated VAR_058454 commonName VAR_058454 VAR_058454 disease not phenotype-associated VAR_058455 commonName VAR_058455 VAR_058455 disease phenotype-associated VAR_058455 phenoCommon Kufor-Rakeb syndrome (KRS) [MIM:606693] VAR_058456 commonName VAR_058456 VAR_058457 commonName VAR_058457 VAR_058457 disease not phenotype-associated VAR_058458 commonName VAR_058458 VAR_058458 disease not phenotype-associated VAR_058459 commonName VAR_058459 VAR_058459 disease not phenotype-associated VAR_058460 commonName VAR_058460 VAR_058460 disease not phenotype-associated VAR_058461 commonName VAR_058461 VAR_058461 disease not phenotype-associated VAR_058462 commonName VAR_058462 VAR_058462 disease phenotype-associated VAR_058462 phenoCommon Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771] VAR_058463 commonName VAR_058463 VAR_058463 disease phenotype-associated VAR_058463 phenoCommon Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771] VAR_058464 commonName VAR_058464 VAR_058464 disease phenotype-associated VAR_058464 phenoCommon Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771] VAR_058465 commonName VAR_058465 VAR_058465 disease not phenotype-associated VAR_058466 commonName VAR_058466 VAR_058466 disease not phenotype-associated VAR_058467 commonName VAR_058467 VAR_058467 disease phenotype-associated VAR_058467 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_058469 commonName VAR_058469 VAR_058469 disease phenotype-associated VAR_058469 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_058470 commonName VAR_058470 VAR_058470 disease phenotype-associated VAR_058470 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_058471 commonName VAR_058471 VAR_058471 disease phenotype-associated VAR_058471 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_058472 commonName VAR_058472 VAR_058472 disease phenotype-associated VAR_058472 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_058473 commonName VAR_058473 VAR_058473 disease phenotype-associated VAR_058473 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_058474 commonName VAR_058474 VAR_058474 disease phenotype-associated VAR_058474 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_058475 commonName VAR_058475 VAR_058475 disease phenotype-associated VAR_058475 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_058476 commonName VAR_058476 VAR_058476 disease phenotype-associated VAR_058476 phenoCommon Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] VAR_058477 commonName VAR_058477 VAR_058477 disease not phenotype-associated VAR_058478 commonName VAR_058478 VAR_058478 disease not phenotype-associated VAR_058480 commonName VAR_058480 VAR_058480 disease not phenotype-associated VAR_058481 commonName VAR_058481 VAR_058481 disease phenotype-associated VAR_058481 phenoCommon Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952] VAR_058482 commonName VAR_058482 VAR_058482 disease phenotype-associated VAR_058482 phenoCommon Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952] VAR_058483 commonName VAR_058483 VAR_058483 disease phenotype-associated VAR_058483 phenoCommon Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952] VAR_058484 commonName VAR_058484 VAR_058484 disease phenotype-associated VAR_058484 phenoCommon Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952] VAR_058485 commonName VAR_058485 VAR_058485 disease phenotype-associated VAR_058485 phenoCommon Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952] VAR_058485 phenoCommon Chilblain lupus type 2 (CHBL2) [MIM:614415] VAR_058486 commonName VAR_058486 VAR_058486 disease phenotype-associated VAR_058486 phenoCommon Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952] VAR_058487 commonName VAR_058487 VAR_058487 disease phenotype-associated VAR_058487 phenoCommon Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952] VAR_058488 commonName VAR_058488 VAR_058488 disease phenotype-associated VAR_058488 phenoCommon Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952] VAR_058489 commonName VAR_058489 VAR_058489 disease phenotype-associated VAR_058489 phenoCommon Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952] VAR_058490 commonName VAR_058490 VAR_058490 disease not phenotype-associated VAR_058491 commonName VAR_058491 VAR_058491 disease phenotype-associated VAR_058491 phenoCommon Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] VAR_058492 commonName VAR_058492 VAR_058492 disease phenotype-associated VAR_058492 phenoCommon Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] VAR_058493 commonName VAR_058493 VAR_058493 disease not phenotype-associated VAR_058495 commonName VAR_058495 VAR_058495 disease not phenotype-associated VAR_058497 commonName VAR_058497 VAR_058497 disease phenotype-associated VAR_058497 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] VAR_058498 commonName VAR_058498 VAR_058498 disease phenotype-associated VAR_058498 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] VAR_058499 commonName VAR_058499 VAR_058499 disease phenotype-associated VAR_058499 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] VAR_058500 commonName VAR_058500 VAR_058500 disease phenotype-associated VAR_058500 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] VAR_058501 commonName VAR_058501 VAR_058501 disease phenotype-associated VAR_058501 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] VAR_058502 commonName VAR_058502 VAR_058502 disease phenotype-associated VAR_058502 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] VAR_058503 commonName VAR_058503 VAR_058503 disease phenotype-associated VAR_058503 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] VAR_058504 commonName VAR_058504 VAR_058504 disease phenotype-associated VAR_058504 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] VAR_058505 commonName VAR_058505 VAR_058505 disease phenotype-associated VAR_058505 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] VAR_058506 commonName VAR_058506 VAR_058506 disease phenotype-associated VAR_058506 phenoCommon Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320] VAR_058507 commonName VAR_058507 VAR_058507 disease phenotype-associated VAR_058507 phenoCommon Pulmonary surfactant metabolism dysfunction type 4 (SMDP4) [MIM:300770] VAR_058508 commonName VAR_058508 VAR_058508 disease phenotype-associated VAR_058508 phenoCommon Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650] VAR_058509 commonName VAR_058509 VAR_058509 disease not phenotype-associated VAR_058510 commonName VAR_058510 VAR_058510 disease not phenotype-associated VAR_058511 commonName VAR_058511 VAR_058511 disease phenotype-associated VAR_058511 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_058512 commonName VAR_058512 VAR_058512 disease phenotype-associated VAR_058512 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_058513 commonName VAR_058513 VAR_058513 disease phenotype-associated VAR_058513 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_058514 commonName VAR_058514 VAR_058514 disease phenotype-associated VAR_058514 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_058516 commonName VAR_058516 VAR_058516 disease phenotype-associated VAR_058516 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_058517 commonName VAR_058517 VAR_058517 disease phenotype-associated VAR_058517 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_058518 commonName VAR_058518 VAR_058518 disease phenotype-associated VAR_058518 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_058519 commonName VAR_058519 VAR_058519 disease phenotype-associated VAR_058519 phenoCommon Mucopolysaccharidosis type 7 (MPS7) [MIM:253220] VAR_058520 commonName VAR_058520 VAR_058520 disease not phenotype-associated VAR_058521 commonName VAR_058521 VAR_058521 disease not phenotype-associated VAR_058522 commonName VAR_058522 VAR_058522 disease not phenotype-associated VAR_058523 commonName VAR_058523 VAR_058523 disease not phenotype-associated VAR_058524 commonName VAR_058524 VAR_058524 disease phenotype-associated VAR_058524 phenoCommon Hypercholesterolemia autosomal dominant type 3 (HCHOLA3) [MIM:603776] VAR_058525 commonName VAR_058525 VAR_058525 disease not phenotype-associated VAR_058526 commonName VAR_058526 VAR_058526 disease phenotype-associated VAR_058526 phenoCommon Hypercholesterolemia autosomal dominant type 3 (HCHOLA3) [MIM:603776] VAR_058527 commonName VAR_058527 VAR_058527 disease phenotype-associated VAR_058527 phenoCommon Hypercholesterolemia autosomal dominant type 3 (HCHOLA3) [MIM:603776] VAR_058528 commonName VAR_058528 VAR_058528 disease not phenotype-associated VAR_058529 commonName VAR_058529 VAR_058529 disease not phenotype-associated VAR_058530 commonName VAR_058530 VAR_058530 disease phenotype-associated VAR_058530 phenoCommon Hypercholesterolemia autosomal dominant type 3 (HCHOLA3) [MIM:603776] VAR_058531 commonName VAR_058531 VAR_058531 disease phenotype-associated VAR_058531 phenoCommon Hypercholesterolemia autosomal dominant type 3 (HCHOLA3) [MIM:603776] VAR_058532 commonName VAR_058532 VAR_058532 disease phenotype-associated VAR_058532 phenoCommon Hypercholesterolemia autosomal dominant type 3 (HCHOLA3) [MIM:603776] VAR_058533 commonName VAR_058533 VAR_058533 disease not phenotype-associated VAR_058534 commonName VAR_058534 VAR_058534 disease phenotype-associated VAR_058534 phenoCommon Hypercholesterolemia autosomal dominant type 3 (HCHOLA3) [MIM:603776] VAR_058535 commonName VAR_058535 VAR_058535 disease not phenotype-associated VAR_058536 commonName VAR_058536 VAR_058536 disease not phenotype-associated VAR_058537 commonName VAR_058537 VAR_058537 disease not phenotype-associated VAR_058538 commonName VAR_058538 VAR_058538 disease phenotype-associated VAR_058538 phenoCommon Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512] VAR_058539 commonName VAR_058539 VAR_058539 disease phenotype-associated VAR_058539 phenoCommon Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512] VAR_058540 commonName VAR_058540 VAR_058540 disease phenotype-associated VAR_058540 phenoCommon Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512] VAR_058541 commonName VAR_058541 VAR_058541 disease phenotype-associated VAR_058541 phenoCommon Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512] VAR_058542 commonName VAR_058542 VAR_058542 disease phenotype-associated VAR_058542 phenoCommon Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512] VAR_058543 commonName VAR_058543 VAR_058543 disease phenotype-associated VAR_058543 phenoCommon Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512] VAR_058544 commonName VAR_058544 VAR_058544 disease phenotype-associated VAR_058544 phenoCommon Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512] VAR_058545 commonName VAR_058545 VAR_058545 disease phenotype-associated VAR_058545 phenoCommon Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512] VAR_058546 commonName VAR_058546 VAR_058546 disease phenotype-associated VAR_058546 phenoCommon Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512] VAR_058547 commonName VAR_058547 VAR_058547 disease phenotype-associated VAR_058547 phenoCommon Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512] VAR_058548 commonName VAR_058548 VAR_058548 disease phenotype-associated VAR_058548 phenoCommon Epilepsy, familial temporal lobe, type 1 (ETL1) [MIM:600512] VAR_058550 commonName VAR_058550 VAR_058551 commonName VAR_058551 VAR_058551 disease phenotype-associated VAR_058551 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_058553 commonName VAR_058553 VAR_058553 disease phenotype-associated VAR_058553 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_058554 commonName VAR_058554 VAR_058555 commonName VAR_058555 VAR_058555 disease phenotype-associated VAR_058555 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_058556 commonName VAR_058556 VAR_058556 disease phenotype-associated VAR_058556 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_058557 commonName VAR_058557 VAR_058557 disease phenotype-associated VAR_058557 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_058558 commonName VAR_058558 VAR_058558 disease phenotype-associated VAR_058558 phenoCommon Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601] VAR_058559 commonName VAR_058559 VAR_058560 commonName VAR_058560 VAR_058560 disease phenotype-associated VAR_058560 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_058561 commonName VAR_058561 VAR_058561 disease phenotype-associated VAR_058561 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_058562 commonName VAR_058562 VAR_058562 disease phenotype-associated VAR_058562 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_058563 commonName VAR_058563 VAR_058563 disease phenotype-associated VAR_058563 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_058564 commonName VAR_058564 VAR_058564 disease phenotype-associated VAR_058564 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_058565 commonName VAR_058565 VAR_058565 disease phenotype-associated VAR_058565 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_058566 commonName VAR_058566 VAR_058566 disease phenotype-associated VAR_058566 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_058567 commonName VAR_058567 VAR_058567 disease not phenotype-associated VAR_058568 commonName VAR_058568 VAR_058568 disease phenotype-associated VAR_058568 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_058569 commonName VAR_058569 VAR_058569 disease phenotype-associated VAR_058569 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_058570 commonName VAR_058570 VAR_058570 disease not phenotype-associated VAR_058571 commonName VAR_058571 VAR_058571 disease phenotype-associated VAR_058571 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_058572 commonName VAR_058572 VAR_058572 disease phenotype-associated VAR_058572 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_058573 commonName VAR_058573 VAR_058573 disease phenotype-associated VAR_058573 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_058574 commonName VAR_058574 VAR_058574 disease phenotype-associated VAR_058574 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_058575 commonName VAR_058575 VAR_058575 disease not phenotype-associated VAR_058576 commonName VAR_058576 VAR_058576 disease phenotype-associated VAR_058576 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_058577 commonName VAR_058577 VAR_058577 disease phenotype-associated VAR_058577 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_058578 commonName VAR_058578 VAR_058578 disease phenotype-associated VAR_058578 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_058579 commonName VAR_058579 VAR_058579 disease phenotype-associated VAR_058579 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_058580 commonName VAR_058580 VAR_058580 disease phenotype-associated VAR_058580 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] VAR_058580 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_058581 commonName VAR_058581 VAR_058581 disease phenotype-associated VAR_058581 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] VAR_058581 phenoCommon Pendred syndrome (PDS) [MIM:274600] VAR_058583 commonName VAR_058583 VAR_058583 disease not phenotype-associated VAR_058584 commonName VAR_058584 VAR_058584 disease not phenotype-associated VAR_058585 commonName VAR_058585 VAR_058585 disease not phenotype-associated VAR_058586 commonName VAR_058586 VAR_058586 disease not phenotype-associated VAR_058587 commonName VAR_058587 VAR_058587 disease not phenotype-associated VAR_058588 commonName VAR_058588 VAR_058588 disease phenotype-associated VAR_058588 phenoCommon Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752] VAR_058589 commonName VAR_058589 VAR_058589 disease phenotype-associated VAR_058589 phenoCommon Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752] VAR_058590 commonName VAR_058590 VAR_058590 disease phenotype-associated VAR_058590 phenoCommon Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752] VAR_058591 commonName VAR_058591 VAR_058591 disease phenotype-associated VAR_058591 phenoCommon Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752] VAR_058592 commonName VAR_058592 VAR_058592 disease phenotype-associated VAR_058592 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637] VAR_058593 commonName VAR_058593 VAR_058593 disease phenotype-associated VAR_058593 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637] VAR_058594 commonName VAR_058594 VAR_058594 disease phenotype-associated VAR_058594 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637] VAR_058595 commonName VAR_058595 VAR_058595 disease phenotype-associated VAR_058595 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637] VAR_058596 commonName VAR_058596 VAR_058596 disease phenotype-associated VAR_058596 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637] VAR_058597 commonName VAR_058597 VAR_058597 disease phenotype-associated VAR_058597 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637] VAR_058598 commonName VAR_058598 VAR_058598 disease phenotype-associated VAR_058598 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637] VAR_058599 commonName VAR_058599 VAR_058599 disease phenotype-associated VAR_058599 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637] VAR_058600 commonName VAR_058600 VAR_058600 disease phenotype-associated VAR_058600 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637] VAR_058601 commonName VAR_058601 VAR_058601 disease phenotype-associated VAR_058601 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637] VAR_058602 commonName VAR_058602 VAR_058602 disease phenotype-associated VAR_058602 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637] VAR_058603 commonName VAR_058603 VAR_058603 disease phenotype-associated VAR_058603 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637] VAR_058604 commonName VAR_058604 VAR_058604 disease phenotype-associated VAR_058604 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637] VAR_058605 commonName VAR_058605 VAR_058605 disease phenotype-associated VAR_058605 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637] VAR_058606 commonName VAR_058606 VAR_058606 disease phenotype-associated VAR_058606 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637] VAR_058607 commonName VAR_058607 VAR_058607 disease phenotype-associated VAR_058607 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637] VAR_058608 commonName VAR_058608 VAR_058608 disease phenotype-associated VAR_058608 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637] VAR_058609 commonName VAR_058609 VAR_058609 disease phenotype-associated VAR_058609 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637] VAR_058610 commonName VAR_058610 VAR_058610 disease phenotype-associated VAR_058610 phenoCommon Holoprosencephaly type 5 (HPE5) [MIM:609637] VAR_058611 commonName VAR_058611 VAR_058611 disease phenotype-associated VAR_058611 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] VAR_058612 commonName VAR_058612 VAR_058612 disease phenotype-associated VAR_058612 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] VAR_058613 commonName VAR_058613 VAR_058613 disease phenotype-associated VAR_058613 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] VAR_058614 commonName VAR_058614 VAR_058614 disease phenotype-associated VAR_058614 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] VAR_058615 commonName VAR_058615 VAR_058615 disease phenotype-associated VAR_058615 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] VAR_058616 commonName VAR_058616 VAR_058616 disease phenotype-associated VAR_058616 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] VAR_058617 commonName VAR_058617 VAR_058617 disease phenotype-associated VAR_058617 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] VAR_058618 commonName VAR_058618 VAR_058618 disease phenotype-associated VAR_058618 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] VAR_058619 commonName VAR_058619 VAR_058619 disease phenotype-associated VAR_058619 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] VAR_058620 commonName VAR_058620 VAR_058621 commonName VAR_058621 VAR_058621 disease phenotype-associated VAR_058621 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] VAR_058621 phenoCommon LEOPARD syndrome type 3 (LEOPARD3) [MIM:613707] VAR_058622 commonName VAR_058622 VAR_058623 commonName VAR_058623 VAR_058623 disease phenotype-associated VAR_058623 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] VAR_058624 commonName VAR_058624 VAR_058624 disease phenotype-associated VAR_058624 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] VAR_058625 commonName VAR_058625 VAR_058625 disease phenotype-associated VAR_058625 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] VAR_058626 commonName VAR_058626 VAR_058626 disease phenotype-associated VAR_058626 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] VAR_058627 commonName VAR_058627 VAR_058627 disease phenotype-associated VAR_058627 phenoCommon Noonan syndrome type 7 (NS7) [MIM:613706] VAR_058628 commonName VAR_058628 VAR_058628 disease phenotype-associated VAR_058628 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] VAR_058629 commonName VAR_058629 VAR_058629 disease phenotype-associated VAR_058629 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] VAR_058630 commonName VAR_058630 VAR_058630 disease phenotype-associated VAR_058630 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] VAR_058631 commonName VAR_058631 VAR_058631 disease phenotype-associated VAR_058631 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] VAR_058632 commonName VAR_058632 VAR_058632 disease phenotype-associated VAR_058632 phenoCommon Pitt-Hopkins syndrome (PTHS) [MIM:610954] VAR_058635 commonName VAR_058635 VAR_058635 disease not phenotype-associated VAR_058636 commonName VAR_058636 VAR_058636 disease not phenotype-associated VAR_058637 commonName VAR_058637 VAR_058637 disease phenotype-associated VAR_058637 phenoCommon Brugada syndrome type 6 (BRGDA6) [MIM:613119] VAR_058638 commonName VAR_058638 VAR_058638 disease phenotype-associated VAR_058638 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058639 commonName VAR_058639 VAR_058639 disease phenotype-associated VAR_058639 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058640 commonName VAR_058640 VAR_058640 disease phenotype-associated VAR_058640 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058641 commonName VAR_058641 VAR_058641 disease phenotype-associated VAR_058641 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058642 commonName VAR_058642 VAR_058642 disease phenotype-associated VAR_058642 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058643 commonName VAR_058643 VAR_058643 disease phenotype-associated VAR_058643 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058644 commonName VAR_058644 VAR_058644 disease phenotype-associated VAR_058644 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058645 commonName VAR_058645 VAR_058645 disease phenotype-associated VAR_058645 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058646 commonName VAR_058646 VAR_058646 disease phenotype-associated VAR_058646 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058647 commonName VAR_058647 VAR_058647 disease phenotype-associated VAR_058647 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058648 commonName VAR_058648 VAR_058648 disease phenotype-associated VAR_058648 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058649 commonName VAR_058649 VAR_058649 disease phenotype-associated VAR_058649 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058650 commonName VAR_058650 VAR_058650 disease phenotype-associated VAR_058650 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058651 commonName VAR_058651 VAR_058651 disease phenotype-associated VAR_058651 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058652 commonName VAR_058652 VAR_058652 disease phenotype-associated VAR_058652 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058653 commonName VAR_058653 VAR_058653 disease phenotype-associated VAR_058653 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058654 commonName VAR_058654 VAR_058654 disease phenotype-associated VAR_058654 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058655 commonName VAR_058655 VAR_058655 disease phenotype-associated VAR_058655 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058656 commonName VAR_058656 VAR_058656 disease phenotype-associated VAR_058656 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058657 commonName VAR_058657 VAR_058657 disease phenotype-associated VAR_058657 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058658 commonName VAR_058658 VAR_058658 disease phenotype-associated VAR_058658 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058659 commonName VAR_058659 VAR_058659 disease phenotype-associated VAR_058659 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058660 commonName VAR_058660 VAR_058660 disease phenotype-associated VAR_058660 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058661 commonName VAR_058661 VAR_058661 disease phenotype-associated VAR_058661 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058662 commonName VAR_058662 VAR_058662 disease phenotype-associated VAR_058662 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058663 commonName VAR_058663 VAR_058663 disease phenotype-associated VAR_058663 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058664 commonName VAR_058664 VAR_058664 disease phenotype-associated VAR_058664 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058665 commonName VAR_058665 VAR_058665 disease phenotype-associated VAR_058665 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058666 commonName VAR_058666 VAR_058666 disease phenotype-associated VAR_058666 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058667 commonName VAR_058667 VAR_058667 disease phenotype-associated VAR_058667 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058668 commonName VAR_058668 VAR_058668 disease phenotype-associated VAR_058668 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058669 commonName VAR_058669 VAR_058669 disease phenotype-associated VAR_058669 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058670 commonName VAR_058670 VAR_058670 disease phenotype-associated VAR_058670 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058671 commonName VAR_058671 VAR_058671 disease phenotype-associated VAR_058671 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058672 commonName VAR_058672 VAR_058672 disease phenotype-associated VAR_058672 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058673 commonName VAR_058673 VAR_058673 disease phenotype-associated VAR_058673 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058674 commonName VAR_058674 VAR_058674 disease phenotype-associated VAR_058674 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058675 commonName VAR_058675 VAR_058675 disease phenotype-associated VAR_058675 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058676 commonName VAR_058676 VAR_058676 disease phenotype-associated VAR_058676 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058677 commonName VAR_058677 VAR_058677 disease phenotype-associated VAR_058677 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058678 commonName VAR_058678 VAR_058678 disease phenotype-associated VAR_058678 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058679 commonName VAR_058679 VAR_058679 disease phenotype-associated VAR_058679 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058680 commonName VAR_058680 VAR_058680 disease phenotype-associated VAR_058680 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058681 commonName VAR_058681 VAR_058681 disease phenotype-associated VAR_058681 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058682 commonName VAR_058682 VAR_058682 disease phenotype-associated VAR_058682 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058683 commonName VAR_058683 VAR_058683 disease phenotype-associated VAR_058683 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058684 commonName VAR_058684 VAR_058684 disease phenotype-associated VAR_058684 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058685 commonName VAR_058685 VAR_058685 disease phenotype-associated VAR_058685 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058686 commonName VAR_058686 VAR_058686 disease phenotype-associated VAR_058686 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058687 commonName VAR_058687 VAR_058687 disease phenotype-associated VAR_058687 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058688 commonName VAR_058688 VAR_058688 disease phenotype-associated VAR_058688 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058689 commonName VAR_058689 VAR_058689 disease phenotype-associated VAR_058689 phenoCommon Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300] VAR_058690 commonName VAR_058690 VAR_058690 disease not phenotype-associated VAR_058691 commonName VAR_058691 VAR_058691 disease not phenotype-associated VAR_058692 commonName VAR_058692 VAR_058692 disease not phenotype-associated VAR_058693 commonName VAR_058693 VAR_058693 disease not phenotype-associated VAR_058694 commonName VAR_058694 VAR_058694 disease not phenotype-associated VAR_058695 commonName VAR_058695 VAR_058695 disease not phenotype-associated VAR_058696 commonName VAR_058696 VAR_058696 disease not phenotype-associated VAR_058697 commonName VAR_058697 VAR_058697 disease not phenotype-associated VAR_058698 commonName VAR_058698 VAR_058698 disease not phenotype-associated VAR_058699 commonName VAR_058699 VAR_058699 disease not phenotype-associated VAR_058701 commonName VAR_058701 VAR_058701 disease not phenotype-associated VAR_058702 commonName VAR_058702 VAR_058702 disease not phenotype-associated VAR_058703 commonName VAR_058703 VAR_058703 disease not phenotype-associated VAR_058704 commonName VAR_058704 VAR_058704 disease not phenotype-associated VAR_058705 commonName VAR_058705 VAR_058705 disease phenotype-associated VAR_058705 phenoCommon Paragangliomas type 2 (PGL2) [MIM:601650] VAR_058706 commonName VAR_058706 VAR_058706 disease not phenotype-associated VAR_058708 commonName VAR_058708 VAR_058708 disease not phenotype-associated VAR_058709 commonName VAR_058709 VAR_058709 disease not phenotype-associated VAR_058710 commonName VAR_058710 VAR_058710 disease not phenotype-associated VAR_058711 commonName VAR_058711 VAR_058711 disease not phenotype-associated VAR_058712 commonName VAR_058712 VAR_058712 disease not phenotype-associated VAR_058713 commonName VAR_058713 VAR_058713 disease not phenotype-associated VAR_058714 commonName VAR_058714 VAR_058714 disease not phenotype-associated VAR_058715 commonName VAR_058715 VAR_058715 disease phenotype-associated VAR_058715 phenoCommon Pituitary hormone deficiency combined type 4 (CPHD4) [MIM:262700] VAR_058716 commonName VAR_058716 VAR_058716 disease phenotype-associated VAR_058716 phenoCommon Pituitary hormone deficiency combined type 4 (CPHD4) [MIM:262700] VAR_058717 commonName VAR_058717 VAR_058717 disease phenotype-associated VAR_058717 phenoCommon Pituitary hormone deficiency combined type 4 (CPHD4) [MIM:262700] VAR_058718 commonName VAR_058718 VAR_058718 disease phenotype-associated VAR_058718 phenoCommon Diarrhea type 3 (DIAR3) [MIM:270420] VAR_058719 commonName VAR_058719 VAR_058719 disease phenotype-associated VAR_058719 phenoCommon FG syndrome type 4 (FGS4) [MIM:300422] VAR_058720 commonName VAR_058720 VAR_058720 disease phenotype-associated VAR_058720 phenoCommon Otopalatodigital syndrome type 2 (OPD2) [MIM:304120] VAR_058721 commonName VAR_058721 VAR_058721 disease phenotype-associated VAR_058721 phenoCommon FG syndrome type 2 (FGS2) [MIM:300321] VAR_058722 commonName VAR_058722 VAR_058723 commonName VAR_058723 VAR_058724 commonName VAR_058724 VAR_058725 commonName VAR_058725 VAR_058726 commonName VAR_058726 VAR_058727 commonName VAR_058727 VAR_058728 commonName VAR_058728 VAR_058729 commonName VAR_058729 VAR_058730 commonName VAR_058730 VAR_058730 disease phenotype-associated VAR_058730 phenoCommon Axenfeld-Rieger syndrome type 3 (RIEG3) [MIM:602482] VAR_058731 commonName VAR_058731 VAR_058732 commonName VAR_058732 VAR_058733 commonName VAR_058733 VAR_058734 commonName VAR_058734 VAR_058735 commonName VAR_058735 VAR_058735 disease phenotype-associated VAR_058735 phenoCommon Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500] VAR_058736 commonName VAR_058736 VAR_058736 disease phenotype-associated VAR_058736 phenoCommon Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500] VAR_058737 commonName VAR_058737 VAR_058737 disease phenotype-associated VAR_058737 phenoCommon Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500] VAR_058738 commonName VAR_058738 VAR_058738 disease phenotype-associated VAR_058738 phenoCommon Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500] VAR_058739 commonName VAR_058739 VAR_058739 disease phenotype-associated VAR_058739 phenoCommon Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500] VAR_058740 commonName VAR_058740 VAR_058740 disease phenotype-associated VAR_058740 phenoCommon Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500] VAR_058741 commonName VAR_058741 VAR_058741 disease phenotype-associated VAR_058741 phenoCommon Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187] VAR_058742 commonName VAR_058742 VAR_058742 disease phenotype-associated VAR_058742 phenoCommon Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187] VAR_058743 commonName VAR_058743 VAR_058743 disease phenotype-associated VAR_058743 phenoCommon Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187] VAR_058744 commonName VAR_058744 VAR_058744 disease phenotype-associated VAR_058744 phenoCommon Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187] VAR_058746 commonName VAR_058746 VAR_058746 disease phenotype-associated VAR_058746 phenoCommon Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187] VAR_058747 commonName VAR_058747 VAR_058747 disease phenotype-associated VAR_058747 phenoCommon Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187] VAR_058748 commonName VAR_058748 VAR_058748 disease phenotype-associated VAR_058748 phenoCommon Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187] VAR_058749 commonName VAR_058749 VAR_058749 disease not phenotype-associated VAR_058750 commonName VAR_058750 VAR_058750 disease not phenotype-associated VAR_058753 commonName VAR_058753 VAR_058753 disease not phenotype-associated VAR_058754 commonName VAR_058754 VAR_058754 disease phenotype-associated VAR_058754 phenoCommon Cohen syndrome (COH1) [MIM:216550] VAR_058755 commonName VAR_058755 VAR_058755 disease phenotype-associated VAR_058755 phenoCommon Cohen syndrome (COH1) [MIM:216550] VAR_058756 commonName VAR_058756 VAR_058756 disease not phenotype-associated VAR_058757 commonName VAR_058757 VAR_058757 disease not phenotype-associated VAR_058758 commonName VAR_058758 VAR_058758 disease phenotype-associated VAR_058758 phenoCommon Oral-facial-digital syndrome type 1 (OFD1) [MIM:311200] VAR_058759 commonName VAR_058759 VAR_058759 disease not phenotype-associated VAR_058760 commonName VAR_058760 VAR_058760 disease phenotype-associated VAR_058760 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_058761 commonName VAR_058761 VAR_058761 disease not phenotype-associated VAR_058762 commonName VAR_058762 VAR_058762 disease phenotype-associated VAR_058762 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_058763 commonName VAR_058763 VAR_058763 disease phenotype-associated VAR_058763 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_058764 commonName VAR_058764 VAR_058764 disease phenotype-associated VAR_058764 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_058765 commonName VAR_058765 VAR_058765 disease phenotype-associated VAR_058765 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_058766 commonName VAR_058766 VAR_058766 disease phenotype-associated VAR_058766 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_058767 commonName VAR_058767 VAR_058767 disease not phenotype-associated VAR_058768 commonName VAR_058768 VAR_058768 disease phenotype-associated VAR_058768 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_058769 commonName VAR_058769 VAR_058769 disease phenotype-associated VAR_058769 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_058770 commonName VAR_058770 VAR_058770 disease not phenotype-associated VAR_058771 commonName VAR_058771 VAR_058771 disease not phenotype-associated VAR_058772 commonName VAR_058772 VAR_058772 disease phenotype-associated VAR_058772 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_058773 commonName VAR_058773 VAR_058773 disease not phenotype-associated VAR_058775 commonName VAR_058775 VAR_058775 disease phenotype-associated VAR_058775 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_058776 commonName VAR_058776 VAR_058776 disease phenotype-associated VAR_058776 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_058777 commonName VAR_058777 VAR_058777 disease not phenotype-associated VAR_058778 commonName VAR_058778 VAR_058778 disease not phenotype-associated VAR_058779 commonName VAR_058779 VAR_058779 disease phenotype-associated VAR_058779 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_058780 commonName VAR_058780 VAR_058780 disease not phenotype-associated VAR_058781 commonName VAR_058781 VAR_058781 disease phenotype-associated VAR_058781 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_058782 commonName VAR_058782 VAR_058782 disease not phenotype-associated VAR_058783 commonName VAR_058783 VAR_058783 disease not phenotype-associated VAR_058784 commonName VAR_058784 VAR_058784 disease not phenotype-associated VAR_058785 commonName VAR_058785 VAR_058785 disease not phenotype-associated VAR_058786 commonName VAR_058786 VAR_058786 disease phenotype-associated VAR_058786 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_058787 commonName VAR_058787 VAR_058787 disease phenotype-associated VAR_058787 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_058788 commonName VAR_058788 VAR_058788 disease phenotype-associated VAR_058788 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_058789 commonName VAR_058789 VAR_058789 disease phenotype-associated VAR_058789 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_058791 commonName VAR_058791 VAR_058791 disease phenotype-associated VAR_058791 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_058792 commonName VAR_058792 VAR_058792 disease phenotype-associated VAR_058792 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_058794 commonName VAR_058794 VAR_058794 disease phenotype-associated VAR_058794 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_058795 commonName VAR_058795 VAR_058796 commonName VAR_058796 VAR_058796 disease phenotype-associated VAR_058796 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_058797 commonName VAR_058797 VAR_058797 disease phenotype-associated VAR_058797 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_058798 commonName VAR_058798 VAR_058798 disease not phenotype-associated VAR_058799 commonName VAR_058799 VAR_058799 disease not phenotype-associated VAR_058800 commonName VAR_058800 VAR_058800 disease not phenotype-associated VAR_058802 commonName VAR_058802 VAR_058802 disease not phenotype-associated VAR_058803 commonName VAR_058803 VAR_058803 disease phenotype-associated VAR_058803 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_058804 commonName VAR_058804 VAR_058804 disease phenotype-associated VAR_058804 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_058806 commonName VAR_058806 VAR_058806 disease phenotype-associated VAR_058806 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_058807 commonName VAR_058807 VAR_058807 disease not phenotype-associated VAR_058808 commonName VAR_058808 VAR_058808 disease phenotype-associated VAR_058808 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_058809 commonName VAR_058809 VAR_058809 disease phenotype-associated VAR_058809 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_058810 commonName VAR_058810 VAR_058810 disease phenotype-associated VAR_058810 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_058811 commonName VAR_058811 VAR_058811 disease phenotype-associated VAR_058811 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_058812 commonName VAR_058812 VAR_058812 disease phenotype-associated VAR_058812 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_058813 commonName VAR_058813 VAR_058813 disease phenotype-associated VAR_058813 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_058814 commonName VAR_058814 VAR_058814 disease not phenotype-associated VAR_058815 commonName VAR_058815 VAR_058815 disease not phenotype-associated VAR_058816 commonName VAR_058816 VAR_058816 disease not phenotype-associated VAR_058817 commonName VAR_058817 VAR_058817 disease not phenotype-associated VAR_058818 commonName VAR_058818 VAR_058818 disease phenotype-associated VAR_058818 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_058819 commonName VAR_058819 VAR_058819 disease phenotype-associated VAR_058819 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_058820 commonName VAR_058820 VAR_058820 disease not phenotype-associated VAR_058821 commonName VAR_058821 VAR_058821 disease not phenotype-associated VAR_058822 commonName VAR_058822 VAR_058822 disease phenotype-associated VAR_058822 phenoCommon Polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:613095] VAR_058823 commonName VAR_058823 VAR_058823 disease phenotype-associated VAR_058823 phenoCommon Polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:613095] VAR_058824 commonName VAR_058824 VAR_058824 disease phenotype-associated VAR_058824 phenoCommon Polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:613095] VAR_058825 commonName VAR_058825 VAR_058825 disease phenotype-associated VAR_058825 phenoCommon Polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:613095] VAR_058826 commonName VAR_058826 VAR_058826 disease not phenotype-associated VAR_058827 commonName VAR_058827 VAR_058827 disease phenotype-associated VAR_058827 phenoCommon Polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:613095] VAR_058828 commonName VAR_058828 VAR_058828 disease phenotype-associated VAR_058828 phenoCommon Polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:613095] VAR_058829 commonName VAR_058829 VAR_058829 disease not phenotype-associated VAR_058830 commonName VAR_058830 VAR_058830 disease phenotype-associated VAR_058830 phenoCommon Polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:613095] VAR_058831 commonName VAR_058831 VAR_058831 disease not phenotype-associated VAR_058846 commonName VAR_058846 VAR_058846 disease not phenotype-associated VAR_058847 commonName VAR_058847 VAR_058847 disease not phenotype-associated VAR_058848 commonName VAR_058848 VAR_058848 disease not phenotype-associated VAR_058849 commonName VAR_058849 VAR_058849 disease not phenotype-associated VAR_058863 commonName VAR_058863 VAR_058863 disease not phenotype-associated VAR_058864 commonName VAR_058864 VAR_058864 disease not phenotype-associated VAR_058865 commonName VAR_058865 VAR_058865 disease not phenotype-associated VAR_058866 commonName VAR_058866 VAR_058866 disease not phenotype-associated VAR_058867 commonName VAR_058867 VAR_058867 disease not phenotype-associated VAR_058868 commonName VAR_058868 VAR_058868 disease not phenotype-associated VAR_058869 commonName VAR_058869 VAR_058869 disease not phenotype-associated VAR_058870 commonName VAR_058870 VAR_058870 disease phenotype-associated VAR_058870 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] VAR_058871 commonName VAR_058871 VAR_058871 disease phenotype-associated VAR_058871 phenoCommon Leigh syndrome (LS) [MIM:256000] VAR_058872 commonName VAR_058872 VAR_058872 disease phenotype-associated VAR_058872 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] VAR_058873 commonName VAR_058873 VAR_058873 disease phenotype-associated VAR_058873 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] VAR_058875 commonName VAR_058875 VAR_058875 disease phenotype-associated VAR_058875 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] VAR_058876 commonName VAR_058876 VAR_058876 disease phenotype-associated VAR_058876 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] VAR_058877 commonName VAR_058877 VAR_058877 disease not phenotype-associated VAR_058878 commonName VAR_058878 VAR_058878 disease phenotype-associated VAR_058878 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640] VAR_058879 commonName VAR_058879 VAR_058879 disease phenotype-associated VAR_058879 phenoCommon Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] VAR_058880 commonName VAR_058880 VAR_058880 disease phenotype-associated VAR_058880 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] VAR_058881 commonName VAR_058881 VAR_058881 disease phenotype-associated VAR_058881 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] VAR_058882 commonName VAR_058882 VAR_058882 disease phenotype-associated VAR_058882 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] VAR_058883 commonName VAR_058883 VAR_058883 disease phenotype-associated VAR_058883 phenoCommon Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] VAR_058884 commonName VAR_058884 VAR_058884 disease phenotype-associated VAR_058884 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] VAR_058885 commonName VAR_058885 VAR_058885 disease phenotype-associated VAR_058885 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] VAR_058886 commonName VAR_058886 VAR_058886 disease phenotype-associated VAR_058886 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] VAR_058887 commonName VAR_058887 VAR_058887 disease phenotype-associated VAR_058887 phenoCommon Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] VAR_058888 commonName VAR_058888 VAR_058888 disease phenotype-associated VAR_058888 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] VAR_058889 commonName VAR_058889 VAR_058889 disease phenotype-associated VAR_058889 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] VAR_058890 commonName VAR_058890 VAR_058890 disease phenotype-associated VAR_058890 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] VAR_058891 commonName VAR_058891 VAR_058891 disease phenotype-associated VAR_058891 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] VAR_058892 commonName VAR_058892 VAR_058892 disease phenotype-associated VAR_058892 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] VAR_058893 commonName VAR_058893 VAR_058893 disease phenotype-associated VAR_058893 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] VAR_058894 commonName VAR_058894 VAR_058894 disease phenotype-associated VAR_058894 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] VAR_058895 commonName VAR_058895 VAR_058895 disease phenotype-associated VAR_058895 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] VAR_058896 commonName VAR_058896 VAR_058896 disease phenotype-associated VAR_058896 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] VAR_058897 commonName VAR_058897 VAR_058897 disease phenotype-associated VAR_058897 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450] VAR_058898 commonName VAR_058898 VAR_058898 disease phenotype-associated VAR_058898 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] VAR_058899 commonName VAR_058899 VAR_058899 disease phenotype-associated VAR_058899 phenoCommon Focal dermal hypoplasia (FODH) [MIM:305600] VAR_058900 commonName VAR_058900 VAR_058900 disease phenotype-associated VAR_058900 phenoCommon Focal dermal hypoplasia (FODH) [MIM:305600] VAR_058901 commonName VAR_058901 VAR_058902 commonName VAR_058902 VAR_058902 disease phenotype-associated VAR_058902 phenoCommon Focal dermal hypoplasia (FODH) [MIM:305600] VAR_058903 commonName VAR_058903 VAR_058903 disease phenotype-associated VAR_058903 phenoCommon Focal dermal hypoplasia (FODH) [MIM:305600] VAR_058904 commonName VAR_058904 VAR_058904 disease phenotype-associated VAR_058904 phenoCommon Focal dermal hypoplasia (FODH) [MIM:305600] VAR_058905 commonName VAR_058905 VAR_058905 disease phenotype-associated VAR_058905 phenoCommon Focal dermal hypoplasia (FODH) [MIM:305600] VAR_058906 commonName VAR_058906 VAR_058906 disease phenotype-associated VAR_058906 phenoCommon Focal dermal hypoplasia (FODH) [MIM:305600] VAR_058907 commonName VAR_058907 VAR_058907 disease phenotype-associated VAR_058907 phenoCommon Cataract posterior polar type 1 (CTPP1) [MIM:116600] VAR_058908 commonName VAR_058908 VAR_058908 disease phenotype-associated VAR_058908 phenoCommon Cataract posterior polar type 1 (CTPP1) [MIM:116600] VAR_058909 commonName VAR_058909 VAR_058909 disease not phenotype-associated VAR_058910 commonName VAR_058910 VAR_058910 disease phenotype-associated VAR_058910 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] VAR_058925 commonName VAR_058925 VAR_058925 disease phenotype-associated VAR_058925 phenoCommon Wilson disease (WD) [MIM:277900] VAR_058926 commonName VAR_058926 VAR_058926 disease phenotype-associated VAR_058926 phenoCommon Wilson disease (WD) [MIM:277900] VAR_058938 commonName VAR_058938 VAR_058939 commonName VAR_058939 VAR_058939 disease not phenotype-associated VAR_058940 commonName VAR_058940 VAR_058941 commonName VAR_058941 VAR_058942 commonName VAR_058942 VAR_058942 disease phenotype-associated VAR_058942 phenoCommon Attention deficit-hyperactivity disorder type 7 (ADHD7) [MIM:613003] VAR_058943 commonName VAR_058943 VAR_058943 disease not phenotype-associated VAR_058945 commonName VAR_058945 VAR_058946 commonName VAR_058946 VAR_058947 commonName VAR_058947 VAR_058948 commonName VAR_058948 VAR_058948 disease phenotype-associated VAR_058948 phenoCommon Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970] VAR_058949 commonName VAR_058949 VAR_058949 disease phenotype-associated VAR_058949 phenoCommon Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970] VAR_058950 commonName VAR_058950 VAR_058950 disease phenotype-associated VAR_058950 phenoCommon Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970] VAR_058951 commonName VAR_058951 VAR_058951 disease phenotype-associated VAR_058951 phenoCommon Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970] VAR_058952 commonName VAR_058952 VAR_058952 disease phenotype-associated VAR_058952 phenoCommon Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970] VAR_058957 commonName VAR_058957 VAR_058957 disease phenotype-associated VAR_058957 phenoCommon Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] VAR_058958 commonName VAR_058958 VAR_058958 disease phenotype-associated VAR_058958 phenoCommon Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] VAR_058959 commonName VAR_058959 VAR_058959 disease phenotype-associated VAR_058959 phenoCommon Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] VAR_058960 commonName VAR_058960 VAR_058960 disease phenotype-associated VAR_058960 phenoCommon Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] VAR_058961 commonName VAR_058961 VAR_058961 disease phenotype-associated VAR_058961 phenoCommon Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] VAR_058963 commonName VAR_058963 VAR_058963 disease not phenotype-associated VAR_058964 commonName VAR_058964 VAR_058964 disease not phenotype-associated VAR_058965 commonName VAR_058965 VAR_058965 disease not phenotype-associated VAR_058966 commonName VAR_058966 VAR_058966 disease not phenotype-associated VAR_058968 commonName VAR_058968 VAR_058968 disease not phenotype-associated VAR_058969 commonName VAR_058969 VAR_058969 disease not phenotype-associated VAR_058970 commonName VAR_058970 VAR_058970 disease not phenotype-associated VAR_058971 commonName VAR_058971 VAR_058971 disease not phenotype-associated VAR_058972 commonName VAR_058972 VAR_058972 disease not phenotype-associated VAR_058974 commonName VAR_058974 VAR_058974 disease not phenotype-associated VAR_058975 commonName VAR_058975 VAR_058975 disease phenotype-associated VAR_058975 phenoCommon Premature ovarian failure type 4 (POF4) [MIM:300510] VAR_058976 commonName VAR_058976 VAR_058976 disease phenotype-associated VAR_058976 phenoCommon Premature ovarian failure type 4 (POF4) [MIM:300510] VAR_058977 commonName VAR_058977 VAR_058977 disease phenotype-associated VAR_058977 phenoCommon Premature ovarian failure type 4 (POF4) [MIM:300510] VAR_058978 commonName VAR_058978 VAR_058978 disease phenotype-associated VAR_058978 phenoCommon Premature ovarian failure type 4 (POF4) [MIM:300510] VAR_058979 commonName VAR_058979 VAR_058979 disease phenotype-associated VAR_058979 phenoCommon Premature ovarian failure type 4 (POF4) [MIM:300510] VAR_058980 commonName VAR_058980 VAR_058980 disease not phenotype-associated VAR_058981 commonName VAR_058981 VAR_058981 disease phenotype-associated VAR_058981 phenoCommon Premature ovarian failure type 4 (POF4) [MIM:300510] VAR_058982 commonName VAR_058982 VAR_058982 disease phenotype-associated VAR_058982 phenoCommon Premature ovarian failure type 4 (POF4) [MIM:300510] VAR_058983 commonName VAR_058983 VAR_058984 commonName VAR_058984 VAR_058985 commonName VAR_058985 VAR_058985 disease phenotype-associated VAR_058985 phenoCommon Premature ovarian failure type 4 (POF4) [MIM:300510] VAR_058986 commonName VAR_058986 VAR_058986 disease phenotype-associated VAR_058986 phenoCommon Premature ovarian failure type 4 (POF4) [MIM:300510] VAR_058987 commonName VAR_058987 VAR_058987 disease phenotype-associated VAR_058987 phenoCommon Premature ovarian failure type 4 (POF4) [MIM:300510] VAR_058988 commonName VAR_058988 VAR_058988 disease phenotype-associated VAR_058988 phenoCommon Premature ovarian failure type 4 (POF4) [MIM:300510] VAR_058990 commonName VAR_058990 VAR_058990 disease phenotype-associated VAR_058990 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_058991 commonName VAR_058991 VAR_058991 disease phenotype-associated VAR_058991 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_058992 commonName VAR_058992 VAR_058992 disease phenotype-associated VAR_058992 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_058993 commonName VAR_058993 VAR_058994 commonName VAR_058994 VAR_058994 disease phenotype-associated VAR_058994 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_058996 commonName VAR_058996 VAR_058996 disease phenotype-associated VAR_058996 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_058997 commonName VAR_058997 VAR_058997 disease phenotype-associated VAR_058997 phenoCommon Hallermann-Streiff syndrome (HSS) [MIM:234100] VAR_058998 commonName VAR_058998 VAR_058998 disease phenotype-associated VAR_058998 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_058999 commonName VAR_058999 VAR_058999 disease phenotype-associated VAR_058999 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_059000 commonName VAR_059000 VAR_059000 disease phenotype-associated VAR_059000 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_059001 commonName VAR_059001 VAR_059001 disease phenotype-associated VAR_059001 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_059002 commonName VAR_059002 VAR_059002 disease phenotype-associated VAR_059002 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_059003 commonName VAR_059003 VAR_059003 disease phenotype-associated VAR_059003 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_059004 commonName VAR_059004 VAR_059004 disease phenotype-associated VAR_059004 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_059005 commonName VAR_059005 VAR_059005 disease phenotype-associated VAR_059005 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_059006 commonName VAR_059006 VAR_059006 disease phenotype-associated VAR_059006 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_059008 commonName VAR_059008 VAR_059008 disease phenotype-associated VAR_059008 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_059009 commonName VAR_059009 VAR_059009 disease phenotype-associated VAR_059009 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_059010 commonName VAR_059010 VAR_059010 disease phenotype-associated VAR_059010 phenoCommon Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200] VAR_059011 commonName VAR_059011 VAR_059012 commonName VAR_059012 VAR_059018 commonName VAR_059018 VAR_059018 disease phenotype-associated VAR_059018 phenoCommon Cutaneous malignant melanoma type 5 (CMM5) [MIM:613099] VAR_059019 commonName VAR_059019 VAR_059019 disease phenotype-associated VAR_059019 phenoCommon Cutaneous malignant melanoma type 5 (CMM5) [MIM:613099] VAR_059020 commonName VAR_059020 VAR_059020 disease phenotype-associated VAR_059020 phenoCommon Cutaneous malignant melanoma type 5 (CMM5) [MIM:613099] VAR_059021 commonName VAR_059021 VAR_059022 commonName VAR_059022 VAR_059022 disease phenotype-associated VAR_059022 phenoCommon Cutaneous malignant melanoma type 5 (CMM5) [MIM:613099] VAR_059023 commonName VAR_059023 VAR_059023 disease not phenotype-associated VAR_059024 commonName VAR_059024 VAR_059024 disease not phenotype-associated VAR_059025 commonName VAR_059025 VAR_059025 disease phenotype-associated VAR_059025 phenoCommon Cutaneous malignant melanoma type 5 (CMM5) [MIM:613099] VAR_059026 commonName VAR_059026 VAR_059026 disease phenotype-associated VAR_059026 phenoCommon Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815] VAR_059027 commonName VAR_059027 VAR_059027 disease phenotype-associated VAR_059027 phenoCommon Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815] VAR_059028 commonName VAR_059028 VAR_059028 disease phenotype-associated VAR_059028 phenoCommon Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815] VAR_059029 commonName VAR_059029 VAR_059029 disease phenotype-associated VAR_059029 phenoCommon Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815] VAR_059031 commonName VAR_059031 VAR_059031 disease not phenotype-associated VAR_059032 commonName VAR_059032 VAR_059032 disease phenotype-associated VAR_059032 phenoCommon Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731] VAR_059033 commonName VAR_059033 VAR_059033 disease not phenotype-associated VAR_059034 commonName VAR_059034 VAR_059034 disease not phenotype-associated VAR_059035 commonName VAR_059035 VAR_059035 disease phenotype-associated VAR_059035 phenoCommon Hydatidiform mole recurrent type 1 (HYDM1) [MIM:231090] VAR_059036 commonName VAR_059036 VAR_059036 disease phenotype-associated VAR_059036 phenoCommon Hydatidiform mole recurrent type 1 (HYDM1) [MIM:231090] VAR_059037 commonName VAR_059037 VAR_059037 disease phenotype-associated VAR_059037 phenoCommon Hydatidiform mole recurrent type 1 (HYDM1) [MIM:231090] VAR_059038 commonName VAR_059038 VAR_059038 disease phenotype-associated VAR_059038 phenoCommon Hydatidiform mole recurrent type 1 (HYDM1) [MIM:231090] VAR_059039 commonName VAR_059039 VAR_059039 disease phenotype-associated VAR_059039 phenoCommon Hydatidiform mole recurrent type 1 (HYDM1) [MIM:231090] VAR_059040 commonName VAR_059040 VAR_059040 disease phenotype-associated VAR_059040 phenoCommon Hydatidiform mole recurrent type 1 (HYDM1) [MIM:231090] VAR_059041 commonName VAR_059041 VAR_059041 disease phenotype-associated VAR_059041 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570] VAR_059042 commonName VAR_059042 VAR_059042 disease phenotype-associated VAR_059042 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570] VAR_059043 commonName VAR_059043 VAR_059043 disease phenotype-associated VAR_059043 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570] VAR_059044 commonName VAR_059044 VAR_059044 disease phenotype-associated VAR_059044 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570] VAR_059045 commonName VAR_059045 VAR_059045 disease phenotype-associated VAR_059045 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570] VAR_059046 commonName VAR_059046 VAR_059046 disease phenotype-associated VAR_059046 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570] VAR_059047 commonName VAR_059047 VAR_059047 disease phenotype-associated VAR_059047 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570] VAR_059048 commonName VAR_059048 VAR_059048 disease phenotype-associated VAR_059048 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570] VAR_059049 commonName VAR_059049 VAR_059049 disease phenotype-associated VAR_059049 phenoCommon Generalized thyroid hormone resistance (GTHR) [MIM:188570] VAR_059050 commonName VAR_059050 VAR_059050 disease phenotype-associated VAR_059050 phenoCommon Hypotrichosis type 7 (HYPT7) [MIM:604379] VAR_059050 phenoCommon Woolly hair autosomal recessive type 2 (ARWH2) [MIM:604379] VAR_059051 commonName VAR_059051 VAR_059051 disease phenotype-associated VAR_059051 phenoCommon Chylomicron retention disease (CMRD) [MIM:246700] VAR_059052 commonName VAR_059052 VAR_059052 disease phenotype-associated VAR_059052 phenoCommon Chylomicron retention disease (CMRD) [MIM:246700] VAR_059053 commonName VAR_059053 VAR_059053 disease not phenotype-associated VAR_059061 commonName VAR_059061 VAR_059061 disease not phenotype-associated VAR_059062 commonName VAR_059062 VAR_059062 disease not phenotype-associated VAR_059063 commonName VAR_059063 VAR_059063 disease not phenotype-associated VAR_059064 commonName VAR_059064 VAR_059064 disease not phenotype-associated VAR_059065 commonName VAR_059065 VAR_059065 disease not phenotype-associated VAR_059066 commonName VAR_059066 VAR_059066 disease not phenotype-associated VAR_059067 commonName VAR_059067 VAR_059067 disease not phenotype-associated VAR_059068 commonName VAR_059068 VAR_059068 disease phenotype-associated VAR_059068 phenoCommon Cutis laxa autosomal recessive type 2B (ARCL2B) [MIM:612940] VAR_059069 commonName VAR_059069 VAR_059069 disease phenotype-associated VAR_059069 phenoCommon Cutis laxa autosomal recessive type 2B (ARCL2B) [MIM:612940] VAR_059070 commonName VAR_059070 VAR_059070 disease phenotype-associated VAR_059070 phenoCommon Cutis laxa autosomal recessive type 2B (ARCL2B) [MIM:612940] VAR_059071 commonName VAR_059071 VAR_059071 disease not phenotype-associated VAR_059072 commonName VAR_059072 VAR_059072 disease phenotype-associated VAR_059072 phenoCommon Cutis laxa autosomal recessive type 2B (ARCL2B) [MIM:612940] VAR_059073 commonName VAR_059073 VAR_059073 disease phenotype-associated VAR_059073 phenoCommon Cutis laxa autosomal recessive type 2B (ARCL2B) [MIM:612940] VAR_059074 commonName VAR_059074 VAR_059074 disease phenotype-associated VAR_059074 phenoCommon Cutis laxa, autosomal recessive, type 3B (ARCL3B) [MIM:614438] VAR_059075 commonName VAR_059075 VAR_059075 disease phenotype-associated VAR_059075 phenoCommon Cutis laxa, autosomal recessive, type 3B (ARCL3B) [MIM:614438] VAR_059076 commonName VAR_059076 VAR_059076 disease phenotype-associated VAR_059076 phenoCommon Cutis laxa autosomal recessive type 2B (ARCL2B) [MIM:612940] VAR_059077 commonName VAR_059077 VAR_059077 disease not phenotype-associated VAR_059078 commonName VAR_059078 VAR_059078 disease not phenotype-associated VAR_059079 commonName VAR_059079 VAR_059079 disease not phenotype-associated VAR_059080 commonName VAR_059080 VAR_059080 disease phenotype-associated VAR_059080 phenoCommon Van der Woude syndrome type 1 (VWS1) [MIM:119300] VAR_059081 commonName VAR_059081 VAR_059081 disease not phenotype-associated VAR_059083 commonName VAR_059083 VAR_059083 disease not phenotype-associated VAR_059085 commonName VAR_059085 VAR_059085 disease not phenotype-associated VAR_059086 commonName VAR_059086 VAR_059086 disease not phenotype-associated VAR_059087 commonName VAR_059087 VAR_059087 disease not phenotype-associated VAR_059088 commonName VAR_059088 VAR_059088 disease not phenotype-associated VAR_059089 commonName VAR_059089 VAR_059089 disease not phenotype-associated VAR_059090 commonName VAR_059090 VAR_059090 disease not phenotype-associated VAR_059091 commonName VAR_059091 VAR_059091 disease not phenotype-associated VAR_059092 commonName VAR_059092 VAR_059092 disease not phenotype-associated VAR_059093 commonName VAR_059093 VAR_059093 disease not phenotype-associated VAR_059094 commonName VAR_059094 VAR_059094 disease not phenotype-associated VAR_059095 commonName VAR_059095 VAR_059095 disease not phenotype-associated VAR_059096 commonName VAR_059096 VAR_059096 disease not phenotype-associated VAR_059097 commonName VAR_059097 VAR_059097 disease not phenotype-associated VAR_059098 commonName VAR_059098 VAR_059098 disease not phenotype-associated VAR_059099 commonName VAR_059099 VAR_059099 disease not phenotype-associated VAR_059100 commonName VAR_059100 VAR_059100 disease not phenotype-associated VAR_059101 commonName VAR_059101 VAR_059101 disease not phenotype-associated VAR_059102 commonName VAR_059102 VAR_059102 disease not phenotype-associated VAR_059103 commonName VAR_059103 VAR_059103 disease not phenotype-associated VAR_059104 commonName VAR_059104 VAR_059104 disease not phenotype-associated VAR_059105 commonName VAR_059105 VAR_059105 disease not phenotype-associated VAR_059106 commonName VAR_059106 VAR_059106 disease not phenotype-associated VAR_059107 commonName VAR_059107 VAR_059107 disease not phenotype-associated VAR_059108 commonName VAR_059108 VAR_059108 disease not phenotype-associated VAR_059109 commonName VAR_059109 VAR_059109 disease not phenotype-associated VAR_059110 commonName VAR_059110 VAR_059110 disease not phenotype-associated VAR_059111 commonName VAR_059111 VAR_059111 disease not phenotype-associated VAR_059112 commonName VAR_059112 VAR_059112 disease not phenotype-associated VAR_059114 commonName VAR_059114 VAR_059114 disease not phenotype-associated VAR_059115 commonName VAR_059115 VAR_059115 disease not phenotype-associated VAR_059116 commonName VAR_059116 VAR_059116 disease not phenotype-associated VAR_059117 commonName VAR_059117 VAR_059117 disease not phenotype-associated VAR_059119 commonName VAR_059119 VAR_059119 disease not phenotype-associated VAR_059120 commonName VAR_059120 VAR_059120 disease not phenotype-associated VAR_059121 commonName VAR_059121 VAR_059121 disease not phenotype-associated VAR_059122 commonName VAR_059122 VAR_059122 disease not phenotype-associated VAR_059123 commonName VAR_059123 VAR_059123 disease not phenotype-associated VAR_059124 commonName VAR_059124 VAR_059124 disease not phenotype-associated VAR_059125 commonName VAR_059125 VAR_059125 disease not phenotype-associated VAR_059126 commonName VAR_059126 VAR_059126 disease not phenotype-associated VAR_059127 commonName VAR_059127 VAR_059127 disease not phenotype-associated VAR_059128 commonName VAR_059128 VAR_059128 disease not phenotype-associated VAR_059129 commonName VAR_059129 VAR_059129 disease not phenotype-associated VAR_059130 commonName VAR_059130 VAR_059130 disease not phenotype-associated VAR_059131 commonName VAR_059131 VAR_059131 disease not phenotype-associated VAR_059132 commonName VAR_059132 VAR_059132 disease not phenotype-associated VAR_059133 commonName VAR_059133 VAR_059133 disease not phenotype-associated VAR_059134 commonName VAR_059134 VAR_059134 disease not phenotype-associated VAR_059135 commonName VAR_059135 VAR_059135 disease not phenotype-associated VAR_059136 commonName VAR_059136 VAR_059136 disease not phenotype-associated VAR_059137 commonName VAR_059137 VAR_059137 disease not phenotype-associated VAR_059139 commonName VAR_059139 VAR_059139 disease not phenotype-associated VAR_059140 commonName VAR_059140 VAR_059140 disease not phenotype-associated VAR_059141 commonName VAR_059141 VAR_059141 disease not phenotype-associated VAR_059142 commonName VAR_059142 VAR_059142 disease not phenotype-associated VAR_059143 commonName VAR_059143 VAR_059143 disease not phenotype-associated VAR_059147 commonName VAR_059147 VAR_059147 disease not phenotype-associated VAR_059148 commonName VAR_059148 VAR_059148 disease not phenotype-associated VAR_059149 commonName VAR_059149 VAR_059149 disease not phenotype-associated VAR_059152 commonName VAR_059152 VAR_059152 disease not phenotype-associated VAR_059153 commonName VAR_059153 VAR_059153 disease not phenotype-associated VAR_059154 commonName VAR_059154 VAR_059154 disease not phenotype-associated VAR_059155 commonName VAR_059155 VAR_059155 disease not phenotype-associated VAR_059156 commonName VAR_059156 VAR_059156 disease not phenotype-associated VAR_059157 commonName VAR_059157 VAR_059157 disease not phenotype-associated VAR_059158 commonName VAR_059158 VAR_059158 disease not phenotype-associated VAR_059159 commonName VAR_059159 VAR_059159 disease not phenotype-associated VAR_059160 commonName VAR_059160 VAR_059160 disease not phenotype-associated VAR_059161 commonName VAR_059161 VAR_059161 disease not phenotype-associated VAR_059162 commonName VAR_059162 VAR_059162 disease not phenotype-associated VAR_059163 commonName VAR_059163 VAR_059163 disease not phenotype-associated VAR_059164 commonName VAR_059164 VAR_059164 disease not phenotype-associated VAR_059165 commonName VAR_059165 VAR_059165 disease not phenotype-associated VAR_059166 commonName VAR_059166 VAR_059166 disease not phenotype-associated VAR_059167 commonName VAR_059167 VAR_059167 disease not phenotype-associated VAR_059168 commonName VAR_059168 VAR_059168 disease not phenotype-associated VAR_059169 commonName VAR_059169 VAR_059169 disease not phenotype-associated VAR_059170 commonName VAR_059170 VAR_059170 disease not phenotype-associated VAR_059171 commonName VAR_059171 VAR_059171 disease not phenotype-associated VAR_059172 commonName VAR_059172 VAR_059172 disease not phenotype-associated VAR_059173 commonName VAR_059173 VAR_059173 disease not phenotype-associated VAR_059174 commonName VAR_059174 VAR_059174 disease not phenotype-associated VAR_059175 commonName VAR_059175 VAR_059175 disease not phenotype-associated VAR_059176 commonName VAR_059176 VAR_059176 disease not phenotype-associated VAR_059177 commonName VAR_059177 VAR_059177 disease not phenotype-associated VAR_059178 commonName VAR_059178 VAR_059178 disease not phenotype-associated VAR_059179 commonName VAR_059179 VAR_059179 disease not phenotype-associated VAR_059180 commonName VAR_059180 VAR_059180 disease not phenotype-associated VAR_059181 commonName VAR_059181 VAR_059181 disease not phenotype-associated VAR_059182 commonName VAR_059182 VAR_059182 disease not phenotype-associated VAR_059183 commonName VAR_059183 VAR_059183 disease not phenotype-associated VAR_059184 commonName VAR_059184 VAR_059184 disease not phenotype-associated VAR_059185 commonName VAR_059185 VAR_059185 disease not phenotype-associated VAR_059186 commonName VAR_059186 VAR_059186 disease not phenotype-associated VAR_059187 commonName VAR_059187 VAR_059187 disease not phenotype-associated VAR_059188 commonName VAR_059188 VAR_059188 disease not phenotype-associated VAR_059189 commonName VAR_059189 VAR_059189 disease not phenotype-associated VAR_059190 commonName VAR_059190 VAR_059190 disease not phenotype-associated VAR_059191 commonName VAR_059191 VAR_059191 disease not phenotype-associated VAR_059193 commonName VAR_059193 VAR_059193 disease not phenotype-associated VAR_059194 commonName VAR_059194 VAR_059194 disease not phenotype-associated VAR_059195 commonName VAR_059195 VAR_059195 disease not phenotype-associated VAR_059197 commonName VAR_059197 VAR_059197 disease not phenotype-associated VAR_059198 commonName VAR_059198 VAR_059198 disease not phenotype-associated VAR_059199 commonName VAR_059199 VAR_059199 disease not phenotype-associated VAR_059200 commonName VAR_059200 VAR_059200 disease not phenotype-associated VAR_059201 commonName VAR_059201 VAR_059201 disease not phenotype-associated VAR_059202 commonName VAR_059202 VAR_059202 disease not phenotype-associated VAR_059203 commonName VAR_059203 VAR_059203 disease not phenotype-associated VAR_059204 commonName VAR_059204 VAR_059204 disease not phenotype-associated VAR_059205 commonName VAR_059205 VAR_059205 disease not phenotype-associated VAR_059206 commonName VAR_059206 VAR_059206 disease not phenotype-associated VAR_059207 commonName VAR_059207 VAR_059207 disease not phenotype-associated VAR_059208 commonName VAR_059208 VAR_059208 disease not phenotype-associated VAR_059209 commonName VAR_059209 VAR_059209 disease not phenotype-associated VAR_059210 commonName VAR_059210 VAR_059210 disease not phenotype-associated VAR_059211 commonName VAR_059211 VAR_059211 disease not phenotype-associated VAR_059212 commonName VAR_059212 VAR_059212 disease not phenotype-associated VAR_059213 commonName VAR_059213 VAR_059213 disease not phenotype-associated VAR_059214 commonName VAR_059214 VAR_059214 disease not phenotype-associated VAR_059215 commonName VAR_059215 VAR_059215 disease not phenotype-associated VAR_059216 commonName VAR_059216 VAR_059216 disease not phenotype-associated VAR_059217 commonName VAR_059217 VAR_059217 disease not phenotype-associated VAR_059219 commonName VAR_059219 VAR_059219 disease not phenotype-associated VAR_059220 commonName VAR_059220 VAR_059220 disease not phenotype-associated VAR_059221 commonName VAR_059221 VAR_059221 disease not phenotype-associated VAR_059222 commonName VAR_059222 VAR_059222 disease not phenotype-associated VAR_059223 commonName VAR_059223 VAR_059223 disease not phenotype-associated VAR_059224 commonName VAR_059224 VAR_059224 disease not phenotype-associated VAR_059225 commonName VAR_059225 VAR_059225 disease not phenotype-associated VAR_059226 commonName VAR_059226 VAR_059226 disease not phenotype-associated VAR_059227 commonName VAR_059227 VAR_059227 disease not phenotype-associated VAR_059228 commonName VAR_059228 VAR_059228 disease not phenotype-associated VAR_059229 commonName VAR_059229 VAR_059229 disease not phenotype-associated VAR_059230 commonName VAR_059230 VAR_059230 disease not phenotype-associated VAR_059231 commonName VAR_059231 VAR_059231 disease not phenotype-associated VAR_059242 commonName VAR_059242 VAR_059242 disease not phenotype-associated VAR_059243 commonName VAR_059243 VAR_059243 disease not phenotype-associated VAR_059244 commonName VAR_059244 VAR_059244 disease not phenotype-associated VAR_059245 commonName VAR_059245 VAR_059245 disease not phenotype-associated VAR_059246 commonName VAR_059246 VAR_059246 disease not phenotype-associated VAR_059247 commonName VAR_059247 VAR_059247 disease not phenotype-associated VAR_059248 commonName VAR_059248 VAR_059248 disease not phenotype-associated VAR_059249 commonName VAR_059249 VAR_059249 disease not phenotype-associated VAR_059250 commonName VAR_059250 VAR_059250 disease not phenotype-associated VAR_059251 commonName VAR_059251 VAR_059251 disease not phenotype-associated VAR_059252 commonName VAR_059252 VAR_059252 disease not phenotype-associated VAR_059253 commonName VAR_059253 VAR_059253 disease not phenotype-associated VAR_059254 commonName VAR_059254 VAR_059254 disease not phenotype-associated VAR_059255 commonName VAR_059255 VAR_059255 disease not phenotype-associated VAR_059256 commonName VAR_059256 VAR_059256 disease not phenotype-associated VAR_059257 commonName VAR_059257 VAR_059257 disease not phenotype-associated VAR_059258 commonName VAR_059258 VAR_059258 disease not phenotype-associated VAR_059259 commonName VAR_059259 VAR_059259 disease not phenotype-associated VAR_059260 commonName VAR_059260 VAR_059260 disease not phenotype-associated VAR_059261 commonName VAR_059261 VAR_059261 disease not phenotype-associated VAR_059262 commonName VAR_059262 VAR_059262 disease not phenotype-associated VAR_059263 commonName VAR_059263 VAR_059263 disease not phenotype-associated VAR_059264 commonName VAR_059264 VAR_059264 disease not phenotype-associated VAR_059265 commonName VAR_059265 VAR_059265 disease not phenotype-associated VAR_059266 commonName VAR_059266 VAR_059266 disease not phenotype-associated VAR_059267 commonName VAR_059267 VAR_059267 disease not phenotype-associated VAR_059268 commonName VAR_059268 VAR_059268 disease not phenotype-associated VAR_059269 commonName VAR_059269 VAR_059269 disease not phenotype-associated VAR_059270 commonName VAR_059270 VAR_059270 disease not phenotype-associated VAR_059275 commonName VAR_059275 VAR_059275 disease not phenotype-associated VAR_059278 commonName VAR_059278 VAR_059278 disease not phenotype-associated VAR_059279 commonName VAR_059279 VAR_059279 disease not phenotype-associated VAR_059280 commonName VAR_059280 VAR_059280 disease not phenotype-associated VAR_059281 commonName VAR_059281 VAR_059281 disease not phenotype-associated VAR_059282 commonName VAR_059282 VAR_059282 disease not phenotype-associated VAR_059283 commonName VAR_059283 VAR_059283 disease not phenotype-associated VAR_059284 commonName VAR_059284 VAR_059284 disease not phenotype-associated VAR_059285 commonName VAR_059285 VAR_059285 disease not phenotype-associated VAR_059286 commonName VAR_059286 VAR_059286 disease not phenotype-associated VAR_059287 commonName VAR_059287 VAR_059287 disease not phenotype-associated VAR_059288 commonName VAR_059288 VAR_059288 disease not phenotype-associated VAR_059289 commonName VAR_059289 VAR_059289 disease not phenotype-associated VAR_059290 commonName VAR_059290 VAR_059290 disease not phenotype-associated VAR_059291 commonName VAR_059291 VAR_059291 disease not phenotype-associated VAR_059292 commonName VAR_059292 VAR_059292 disease not phenotype-associated VAR_059293 commonName VAR_059293 VAR_059293 disease not phenotype-associated VAR_059294 commonName VAR_059294 VAR_059294 disease not phenotype-associated VAR_059295 commonName VAR_059295 VAR_059295 disease not phenotype-associated VAR_059296 commonName VAR_059296 VAR_059296 disease not phenotype-associated VAR_059297 commonName VAR_059297 VAR_059297 disease not phenotype-associated VAR_059298 commonName VAR_059298 VAR_059298 disease not phenotype-associated VAR_059299 commonName VAR_059299 VAR_059299 disease not phenotype-associated VAR_059300 commonName VAR_059300 VAR_059300 disease not phenotype-associated VAR_059301 commonName VAR_059301 VAR_059301 disease not phenotype-associated VAR_059302 commonName VAR_059302 VAR_059302 disease not phenotype-associated VAR_059303 commonName VAR_059303 VAR_059303 disease not phenotype-associated VAR_059304 commonName VAR_059304 VAR_059304 disease not phenotype-associated VAR_059305 commonName VAR_059305 VAR_059305 disease not phenotype-associated VAR_059306 commonName VAR_059306 VAR_059306 disease not phenotype-associated VAR_059307 commonName VAR_059307 VAR_059307 disease not phenotype-associated VAR_059308 commonName VAR_059308 VAR_059308 disease not phenotype-associated VAR_059309 commonName VAR_059309 VAR_059309 disease not phenotype-associated VAR_059310 commonName VAR_059310 VAR_059310 disease not phenotype-associated VAR_059311 commonName VAR_059311 VAR_059311 disease not phenotype-associated VAR_059313 commonName VAR_059313 VAR_059313 disease not phenotype-associated VAR_059314 commonName VAR_059314 VAR_059314 disease not phenotype-associated VAR_059315 commonName VAR_059315 VAR_059315 disease not phenotype-associated VAR_059316 commonName VAR_059316 VAR_059316 disease not phenotype-associated VAR_059317 commonName VAR_059317 VAR_059317 disease not phenotype-associated VAR_059318 commonName VAR_059318 VAR_059318 disease not phenotype-associated VAR_059319 commonName VAR_059319 VAR_059319 disease not phenotype-associated VAR_059320 commonName VAR_059320 VAR_059320 disease not phenotype-associated VAR_059321 commonName VAR_059321 VAR_059321 disease not phenotype-associated VAR_059322 commonName VAR_059322 VAR_059322 disease not phenotype-associated VAR_059323 commonName VAR_059323 VAR_059323 disease not phenotype-associated VAR_059324 commonName VAR_059324 VAR_059324 disease not phenotype-associated VAR_059325 commonName VAR_059325 VAR_059325 disease not phenotype-associated VAR_059326 commonName VAR_059326 VAR_059326 disease not phenotype-associated VAR_059327 commonName VAR_059327 VAR_059327 disease not phenotype-associated VAR_059328 commonName VAR_059328 VAR_059328 disease not phenotype-associated VAR_059329 commonName VAR_059329 VAR_059329 disease not phenotype-associated VAR_059330 commonName VAR_059330 VAR_059330 disease not phenotype-associated VAR_059331 commonName VAR_059331 VAR_059331 disease not phenotype-associated VAR_059332 commonName VAR_059332 VAR_059332 disease not phenotype-associated VAR_059333 commonName VAR_059333 VAR_059333 disease not phenotype-associated VAR_059334 commonName VAR_059334 VAR_059334 disease not phenotype-associated VAR_059336 commonName VAR_059336 VAR_059336 disease not phenotype-associated VAR_059337 commonName VAR_059337 VAR_059337 disease not phenotype-associated VAR_059338 commonName VAR_059338 VAR_059338 disease not phenotype-associated VAR_059339 commonName VAR_059339 VAR_059339 disease not phenotype-associated VAR_059340 commonName VAR_059340 VAR_059340 disease not phenotype-associated VAR_059341 commonName VAR_059341 VAR_059341 disease not phenotype-associated VAR_059342 commonName VAR_059342 VAR_059342 disease not phenotype-associated VAR_059343 commonName VAR_059343 VAR_059343 disease not phenotype-associated VAR_059344 commonName VAR_059344 VAR_059344 disease not phenotype-associated VAR_059346 commonName VAR_059346 VAR_059346 disease not phenotype-associated VAR_059352 commonName VAR_059352 VAR_059352 disease not phenotype-associated VAR_059353 commonName VAR_059353 VAR_059353 disease not phenotype-associated VAR_059354 commonName VAR_059354 VAR_059354 disease not phenotype-associated VAR_059355 commonName VAR_059355 VAR_059355 disease not phenotype-associated VAR_059356 commonName VAR_059356 VAR_059356 disease not phenotype-associated VAR_059357 commonName VAR_059357 VAR_059357 disease not phenotype-associated VAR_059358 commonName VAR_059358 VAR_059358 disease not phenotype-associated VAR_059359 commonName VAR_059359 VAR_059359 disease not phenotype-associated VAR_059360 commonName VAR_059360 VAR_059360 disease not phenotype-associated VAR_059361 commonName VAR_059361 VAR_059361 disease not phenotype-associated VAR_059362 commonName VAR_059362 VAR_059362 disease not phenotype-associated VAR_059363 commonName VAR_059363 VAR_059363 disease not phenotype-associated VAR_059364 commonName VAR_059364 VAR_059364 disease not phenotype-associated VAR_059365 commonName VAR_059365 VAR_059365 disease not phenotype-associated VAR_059366 commonName VAR_059366 VAR_059366 disease not phenotype-associated VAR_059367 commonName VAR_059367 VAR_059367 disease not phenotype-associated VAR_059368 commonName VAR_059368 VAR_059368 disease not phenotype-associated VAR_059369 commonName VAR_059369 VAR_059369 disease not phenotype-associated VAR_059370 commonName VAR_059370 VAR_059370 disease not phenotype-associated VAR_059371 commonName VAR_059371 VAR_059371 disease not phenotype-associated VAR_059372 commonName VAR_059372 VAR_059372 disease not phenotype-associated VAR_059373 commonName VAR_059373 VAR_059373 disease not phenotype-associated VAR_059374 commonName VAR_059374 VAR_059374 disease not phenotype-associated VAR_059375 commonName VAR_059375 VAR_059375 disease not phenotype-associated VAR_059376 commonName VAR_059376 VAR_059376 disease not phenotype-associated VAR_059377 commonName VAR_059377 VAR_059377 disease not phenotype-associated VAR_059378 commonName VAR_059378 VAR_059378 disease not phenotype-associated VAR_059379 commonName VAR_059379 VAR_059379 disease not phenotype-associated VAR_059380 commonName VAR_059380 VAR_059380 disease not phenotype-associated VAR_059381 commonName VAR_059381 VAR_059381 disease not phenotype-associated VAR_059382 commonName VAR_059382 VAR_059382 disease not phenotype-associated VAR_059383 commonName VAR_059383 VAR_059383 disease not phenotype-associated VAR_059384 commonName VAR_059384 VAR_059384 disease not phenotype-associated VAR_059385 commonName VAR_059385 VAR_059385 disease not phenotype-associated VAR_059386 commonName VAR_059386 VAR_059386 disease not phenotype-associated VAR_059387 commonName VAR_059387 VAR_059387 disease not phenotype-associated VAR_059388 commonName VAR_059388 VAR_059388 disease not phenotype-associated VAR_059389 commonName VAR_059389 VAR_059389 disease not phenotype-associated VAR_059390 commonName VAR_059390 VAR_059390 disease not phenotype-associated VAR_059391 commonName VAR_059391 VAR_059391 disease not phenotype-associated VAR_059392 commonName VAR_059392 VAR_059392 disease not phenotype-associated VAR_059393 commonName VAR_059393 VAR_059393 disease not phenotype-associated VAR_059394 commonName VAR_059394 VAR_059394 disease not phenotype-associated VAR_059395 commonName VAR_059395 VAR_059395 disease not phenotype-associated VAR_059396 commonName VAR_059396 VAR_059396 disease not phenotype-associated VAR_059397 commonName VAR_059397 VAR_059397 disease not phenotype-associated VAR_059398 commonName VAR_059398 VAR_059398 disease not phenotype-associated VAR_059399 commonName VAR_059399 VAR_059399 disease not phenotype-associated VAR_059400 commonName VAR_059400 VAR_059400 disease not phenotype-associated VAR_059406 commonName VAR_059406 VAR_059406 disease not phenotype-associated VAR_059407 commonName VAR_059407 VAR_059407 disease not phenotype-associated VAR_059408 commonName VAR_059408 VAR_059408 disease not phenotype-associated VAR_059409 commonName VAR_059409 VAR_059409 disease not phenotype-associated VAR_059410 commonName VAR_059410 VAR_059410 disease not phenotype-associated VAR_059411 commonName VAR_059411 VAR_059411 disease not phenotype-associated VAR_059412 commonName VAR_059412 VAR_059412 disease not phenotype-associated VAR_059413 commonName VAR_059413 VAR_059413 disease not phenotype-associated VAR_059414 commonName VAR_059414 VAR_059414 disease not phenotype-associated VAR_059423 commonName VAR_059423 VAR_059423 disease not phenotype-associated VAR_059424 commonName VAR_059424 VAR_059424 disease not phenotype-associated VAR_059425 commonName VAR_059425 VAR_059425 disease not phenotype-associated VAR_059428 commonName VAR_059428 VAR_059428 disease not phenotype-associated VAR_059429 commonName VAR_059429 VAR_059429 disease not phenotype-associated VAR_059430 commonName VAR_059430 VAR_059430 disease not phenotype-associated VAR_059431 commonName VAR_059431 VAR_059431 disease not phenotype-associated VAR_059432 commonName VAR_059432 VAR_059432 disease not phenotype-associated VAR_059433 commonName VAR_059433 VAR_059433 disease not phenotype-associated VAR_059434 commonName VAR_059434 VAR_059434 disease not phenotype-associated VAR_059435 commonName VAR_059435 VAR_059435 disease not phenotype-associated VAR_059436 commonName VAR_059436 VAR_059436 disease not phenotype-associated VAR_059437 commonName VAR_059437 VAR_059437 disease not phenotype-associated VAR_059438 commonName VAR_059438 VAR_059438 disease not phenotype-associated VAR_059439 commonName VAR_059439 VAR_059439 disease not phenotype-associated VAR_059440 commonName VAR_059440 VAR_059440 disease not phenotype-associated VAR_059441 commonName VAR_059441 VAR_059441 disease not phenotype-associated VAR_059442 commonName VAR_059442 VAR_059442 disease not phenotype-associated VAR_059443 commonName VAR_059443 VAR_059443 disease not phenotype-associated VAR_059444 commonName VAR_059444 VAR_059444 disease not phenotype-associated VAR_059445 commonName VAR_059445 VAR_059445 disease not phenotype-associated VAR_059446 commonName VAR_059446 VAR_059446 disease not phenotype-associated VAR_059448 commonName VAR_059448 VAR_059448 disease not phenotype-associated VAR_059449 commonName VAR_059449 VAR_059449 disease not phenotype-associated VAR_059451 commonName VAR_059451 VAR_059451 disease not phenotype-associated VAR_059452 commonName VAR_059452 VAR_059452 disease not phenotype-associated VAR_059453 commonName VAR_059453 VAR_059453 disease not phenotype-associated VAR_059454 commonName VAR_059454 VAR_059454 disease not phenotype-associated VAR_059455 commonName VAR_059455 VAR_059455 disease not phenotype-associated VAR_059456 commonName VAR_059456 VAR_059456 disease not phenotype-associated VAR_059457 commonName VAR_059457 VAR_059457 disease not phenotype-associated VAR_059458 commonName VAR_059458 VAR_059458 disease not phenotype-associated VAR_059460 commonName VAR_059460 VAR_059460 disease not phenotype-associated VAR_059461 commonName VAR_059461 VAR_059461 disease not phenotype-associated VAR_059462 commonName VAR_059462 VAR_059462 disease not phenotype-associated VAR_059463 commonName VAR_059463 VAR_059463 disease not phenotype-associated VAR_059464 commonName VAR_059464 VAR_059464 disease not phenotype-associated VAR_059465 commonName VAR_059465 VAR_059465 disease not phenotype-associated VAR_059466 commonName VAR_059466 VAR_059466 disease not phenotype-associated VAR_059528 commonName VAR_059528 VAR_059528 disease not phenotype-associated VAR_059530 commonName VAR_059530 VAR_059530 disease not phenotype-associated VAR_059538 commonName VAR_059538 VAR_059538 disease not phenotype-associated VAR_059539 commonName VAR_059539 VAR_059539 disease not phenotype-associated VAR_059540 commonName VAR_059540 VAR_059540 disease not phenotype-associated VAR_059541 commonName VAR_059541 VAR_059541 disease not phenotype-associated VAR_059542 commonName VAR_059542 VAR_059542 disease not phenotype-associated VAR_059543 commonName VAR_059543 VAR_059543 disease not phenotype-associated VAR_059544 commonName VAR_059544 VAR_059544 disease not phenotype-associated VAR_059545 commonName VAR_059545 VAR_059545 disease not phenotype-associated VAR_059546 commonName VAR_059546 VAR_059546 disease not phenotype-associated VAR_059547 commonName VAR_059547 VAR_059547 disease not phenotype-associated VAR_059548 commonName VAR_059548 VAR_059548 disease not phenotype-associated VAR_059550 commonName VAR_059550 VAR_059550 disease not phenotype-associated VAR_059551 commonName VAR_059551 VAR_059551 disease not phenotype-associated VAR_059552 commonName VAR_059552 VAR_059552 disease not phenotype-associated VAR_059553 commonName VAR_059553 VAR_059553 disease not phenotype-associated VAR_059554 commonName VAR_059554 VAR_059554 disease not phenotype-associated VAR_059555 commonName VAR_059555 VAR_059555 disease not phenotype-associated VAR_059556 commonName VAR_059556 VAR_059556 disease not phenotype-associated VAR_059557 commonName VAR_059557 VAR_059557 disease not phenotype-associated VAR_059558 commonName VAR_059558 VAR_059558 disease not phenotype-associated VAR_059560 commonName VAR_059560 VAR_059560 disease not phenotype-associated VAR_059561 commonName VAR_059561 VAR_059561 disease not phenotype-associated VAR_059562 commonName VAR_059562 VAR_059562 disease not phenotype-associated VAR_059563 commonName VAR_059563 VAR_059563 disease not phenotype-associated VAR_059564 commonName VAR_059564 VAR_059564 disease not phenotype-associated VAR_059565 commonName VAR_059565 VAR_059565 disease not phenotype-associated VAR_059566 commonName VAR_059566 VAR_059566 disease not phenotype-associated VAR_059567 commonName VAR_059567 VAR_059567 disease not phenotype-associated VAR_059568 commonName VAR_059568 VAR_059568 disease not phenotype-associated VAR_059569 commonName VAR_059569 VAR_059569 disease not phenotype-associated VAR_059570 commonName VAR_059570 VAR_059570 disease not phenotype-associated VAR_059571 commonName VAR_059571 VAR_059571 disease not phenotype-associated VAR_059572 commonName VAR_059572 VAR_059572 disease not phenotype-associated VAR_059573 commonName VAR_059573 VAR_059573 disease not phenotype-associated VAR_059574 commonName VAR_059574 VAR_059574 disease not phenotype-associated VAR_059575 commonName VAR_059575 VAR_059575 disease not phenotype-associated VAR_059576 commonName VAR_059576 VAR_059576 disease not phenotype-associated VAR_059577 commonName VAR_059577 VAR_059577 disease not phenotype-associated VAR_059578 commonName VAR_059578 VAR_059578 disease not phenotype-associated VAR_059579 commonName VAR_059579 VAR_059579 disease not phenotype-associated VAR_059580 commonName VAR_059580 VAR_059580 disease not phenotype-associated VAR_059581 commonName VAR_059581 VAR_059581 disease not phenotype-associated VAR_059583 commonName VAR_059583 VAR_059583 disease not phenotype-associated VAR_059585 commonName VAR_059585 VAR_059585 disease not phenotype-associated VAR_059586 commonName VAR_059586 VAR_059586 disease not phenotype-associated VAR_059589 commonName VAR_059589 VAR_059589 disease not phenotype-associated VAR_059591 commonName VAR_059591 VAR_059591 disease not phenotype-associated VAR_059592 commonName VAR_059592 VAR_059592 disease not phenotype-associated VAR_059593 commonName VAR_059593 VAR_059593 disease not phenotype-associated VAR_059594 commonName VAR_059594 VAR_059594 disease not phenotype-associated VAR_059596 commonName VAR_059596 VAR_059596 disease not phenotype-associated VAR_059597 commonName VAR_059597 VAR_059597 disease not phenotype-associated VAR_059598 commonName VAR_059598 VAR_059598 disease not phenotype-associated VAR_059600 commonName VAR_059600 VAR_059600 disease not phenotype-associated VAR_059601 commonName VAR_059601 VAR_059601 disease not phenotype-associated VAR_059602 commonName VAR_059602 VAR_059602 disease not phenotype-associated VAR_059603 commonName VAR_059603 VAR_059603 disease not phenotype-associated VAR_059605 commonName VAR_059605 VAR_059605 disease not phenotype-associated VAR_059606 commonName VAR_059606 VAR_059606 disease not phenotype-associated VAR_059607 commonName VAR_059607 VAR_059607 disease not phenotype-associated VAR_059608 commonName VAR_059608 VAR_059608 disease not phenotype-associated VAR_059609 commonName VAR_059609 VAR_059609 disease not phenotype-associated VAR_059610 commonName VAR_059610 VAR_059610 disease not phenotype-associated VAR_059611 commonName VAR_059611 VAR_059611 disease not phenotype-associated VAR_059612 commonName VAR_059612 VAR_059612 disease not phenotype-associated VAR_059613 commonName VAR_059613 VAR_059613 disease not phenotype-associated VAR_059614 commonName VAR_059614 VAR_059614 disease not phenotype-associated VAR_059615 commonName VAR_059615 VAR_059615 disease not phenotype-associated VAR_059617 commonName VAR_059617 VAR_059617 disease not phenotype-associated VAR_059618 commonName VAR_059618 VAR_059618 disease not phenotype-associated VAR_059619 commonName VAR_059619 VAR_059619 disease not phenotype-associated VAR_059620 commonName VAR_059620 VAR_059620 disease not phenotype-associated VAR_059621 commonName VAR_059621 VAR_059621 disease not phenotype-associated VAR_059622 commonName VAR_059622 VAR_059622 disease not phenotype-associated VAR_059623 commonName VAR_059623 VAR_059623 disease not phenotype-associated VAR_059624 commonName VAR_059624 VAR_059624 disease not phenotype-associated VAR_059625 commonName VAR_059625 VAR_059625 disease not phenotype-associated VAR_059626 commonName VAR_059626 VAR_059626 disease not phenotype-associated VAR_059627 commonName VAR_059627 VAR_059627 disease not phenotype-associated VAR_059628 commonName VAR_059628 VAR_059628 disease not phenotype-associated VAR_059629 commonName VAR_059629 VAR_059629 disease not phenotype-associated VAR_059630 commonName VAR_059630 VAR_059630 disease not phenotype-associated VAR_059631 commonName VAR_059631 VAR_059631 disease not phenotype-associated VAR_059632 commonName VAR_059632 VAR_059632 disease not phenotype-associated VAR_059637 commonName VAR_059637 VAR_059637 disease not phenotype-associated VAR_059639 commonName VAR_059639 VAR_059639 disease not phenotype-associated VAR_059641 commonName VAR_059641 VAR_059641 disease not phenotype-associated VAR_059642 commonName VAR_059642 VAR_059642 disease not phenotype-associated VAR_059643 commonName VAR_059643 VAR_059643 disease not phenotype-associated VAR_059644 commonName VAR_059644 VAR_059644 disease not phenotype-associated VAR_059645 commonName VAR_059645 VAR_059645 disease not phenotype-associated VAR_059646 commonName VAR_059646 VAR_059646 disease not phenotype-associated VAR_059647 commonName VAR_059647 VAR_059647 disease not phenotype-associated VAR_059648 commonName VAR_059648 VAR_059648 disease not phenotype-associated VAR_059649 commonName VAR_059649 VAR_059649 disease not phenotype-associated VAR_059650 commonName VAR_059650 VAR_059650 disease not phenotype-associated VAR_059651 commonName VAR_059651 VAR_059651 disease not phenotype-associated VAR_059652 commonName VAR_059652 VAR_059652 disease not phenotype-associated VAR_059653 commonName VAR_059653 VAR_059653 disease not phenotype-associated VAR_059654 commonName VAR_059654 VAR_059654 disease not phenotype-associated VAR_059655 commonName VAR_059655 VAR_059655 disease not phenotype-associated VAR_059656 commonName VAR_059656 VAR_059656 disease not phenotype-associated VAR_059657 commonName VAR_059657 VAR_059657 disease not phenotype-associated VAR_059658 commonName VAR_059658 VAR_059658 disease not phenotype-associated VAR_059659 commonName VAR_059659 VAR_059659 disease not phenotype-associated VAR_059660 commonName VAR_059660 VAR_059660 disease not phenotype-associated VAR_059661 commonName VAR_059661 VAR_059661 disease not phenotype-associated VAR_059662 commonName VAR_059662 VAR_059662 disease not phenotype-associated VAR_059663 commonName VAR_059663 VAR_059663 disease not phenotype-associated VAR_059664 commonName VAR_059664 VAR_059664 disease not phenotype-associated VAR_059665 commonName VAR_059665 VAR_059665 disease not phenotype-associated VAR_059666 commonName VAR_059666 VAR_059666 disease not phenotype-associated VAR_059688 commonName VAR_059688 VAR_059688 disease not phenotype-associated VAR_059689 commonName VAR_059689 VAR_059689 disease not phenotype-associated VAR_059690 commonName VAR_059690 VAR_059690 disease not phenotype-associated VAR_059691 commonName VAR_059691 VAR_059691 disease not phenotype-associated VAR_059692 commonName VAR_059692 VAR_059692 disease not phenotype-associated VAR_059693 commonName VAR_059693 VAR_059693 disease not phenotype-associated VAR_059694 commonName VAR_059694 VAR_059694 disease not phenotype-associated VAR_059695 commonName VAR_059695 VAR_059695 disease not phenotype-associated VAR_059696 commonName VAR_059696 VAR_059696 disease not phenotype-associated VAR_059697 commonName VAR_059697 VAR_059697 disease not phenotype-associated VAR_059698 commonName VAR_059698 VAR_059698 disease not phenotype-associated VAR_059699 commonName VAR_059699 VAR_059699 disease not phenotype-associated VAR_059700 commonName VAR_059700 VAR_059700 disease not phenotype-associated VAR_059701 commonName VAR_059701 VAR_059701 disease not phenotype-associated VAR_059702 commonName VAR_059702 VAR_059702 disease not phenotype-associated VAR_059703 commonName VAR_059703 VAR_059703 disease not phenotype-associated VAR_059704 commonName VAR_059704 VAR_059704 disease not phenotype-associated VAR_059705 commonName VAR_059705 VAR_059705 disease not phenotype-associated VAR_059706 commonName VAR_059706 VAR_059706 disease not phenotype-associated VAR_059707 commonName VAR_059707 VAR_059707 disease not phenotype-associated VAR_059708 commonName VAR_059708 VAR_059708 disease not phenotype-associated VAR_059709 commonName VAR_059709 VAR_059709 disease not phenotype-associated VAR_059710 commonName VAR_059710 VAR_059710 disease not phenotype-associated VAR_059711 commonName VAR_059711 VAR_059711 disease not phenotype-associated VAR_059712 commonName VAR_059712 VAR_059712 disease not phenotype-associated VAR_059713 commonName VAR_059713 VAR_059713 disease not phenotype-associated VAR_059714 commonName VAR_059714 VAR_059714 disease not phenotype-associated VAR_059716 commonName VAR_059716 VAR_059716 disease not phenotype-associated VAR_059717 commonName VAR_059717 VAR_059717 disease not phenotype-associated VAR_059718 commonName VAR_059718 VAR_059718 disease not phenotype-associated VAR_059719 commonName VAR_059719 VAR_059719 disease not phenotype-associated VAR_059720 commonName VAR_059720 VAR_059720 disease not phenotype-associated VAR_059721 commonName VAR_059721 VAR_059721 disease not phenotype-associated VAR_059722 commonName VAR_059722 VAR_059722 disease not phenotype-associated VAR_059725 commonName VAR_059725 VAR_059725 disease not phenotype-associated VAR_059726 commonName VAR_059726 VAR_059726 disease not phenotype-associated VAR_059727 commonName VAR_059727 VAR_059727 disease not phenotype-associated VAR_059728 commonName VAR_059728 VAR_059728 disease not phenotype-associated VAR_059729 commonName VAR_059729 VAR_059729 disease not phenotype-associated VAR_059730 commonName VAR_059730 VAR_059730 disease not phenotype-associated VAR_059731 commonName VAR_059731 VAR_059731 disease not phenotype-associated VAR_059732 commonName VAR_059732 VAR_059732 disease not phenotype-associated VAR_059733 commonName VAR_059733 VAR_059733 disease not phenotype-associated VAR_059734 commonName VAR_059734 VAR_059734 disease not phenotype-associated VAR_059735 commonName VAR_059735 VAR_059735 disease not phenotype-associated VAR_059736 commonName VAR_059736 VAR_059736 disease not phenotype-associated VAR_059737 commonName VAR_059737 VAR_059737 disease not phenotype-associated VAR_059738 commonName VAR_059738 VAR_059738 disease not phenotype-associated VAR_059739 commonName VAR_059739 VAR_059739 disease not phenotype-associated VAR_059740 commonName VAR_059740 VAR_059740 disease not phenotype-associated VAR_059741 commonName VAR_059741 VAR_059741 disease not phenotype-associated VAR_059742 commonName VAR_059742 VAR_059742 disease not phenotype-associated VAR_059743 commonName VAR_059743 VAR_059743 disease not phenotype-associated VAR_059744 commonName VAR_059744 VAR_059744 disease not phenotype-associated VAR_059745 commonName VAR_059745 VAR_059745 disease not phenotype-associated VAR_059746 commonName VAR_059746 VAR_059746 disease not phenotype-associated VAR_059747 commonName VAR_059747 VAR_059747 disease not phenotype-associated VAR_059748 commonName VAR_059748 VAR_059748 disease not phenotype-associated VAR_059749 commonName VAR_059749 VAR_059749 disease not phenotype-associated VAR_059750 commonName VAR_059750 VAR_059750 disease not phenotype-associated VAR_059751 commonName VAR_059751 VAR_059751 disease not phenotype-associated VAR_059752 commonName VAR_059752 VAR_059752 disease not phenotype-associated VAR_059754 commonName VAR_059754 VAR_059754 disease not phenotype-associated VAR_059756 commonName VAR_059756 VAR_059756 disease not phenotype-associated VAR_059757 commonName VAR_059757 VAR_059757 disease not phenotype-associated VAR_059758 commonName VAR_059758 VAR_059758 disease not phenotype-associated VAR_059761 commonName VAR_059761 VAR_059761 disease not phenotype-associated VAR_059762 commonName VAR_059762 VAR_059762 disease not phenotype-associated VAR_059763 commonName VAR_059763 VAR_059763 disease not phenotype-associated VAR_059764 commonName VAR_059764 VAR_059764 disease not phenotype-associated VAR_059765 commonName VAR_059765 VAR_059765 disease not phenotype-associated VAR_059766 commonName VAR_059766 VAR_059766 disease not phenotype-associated VAR_059767 commonName VAR_059767 VAR_059767 disease not phenotype-associated VAR_059769 commonName VAR_059769 VAR_059769 disease not phenotype-associated VAR_059770 commonName VAR_059770 VAR_059770 disease not phenotype-associated VAR_059773 commonName VAR_059773 VAR_059773 disease not phenotype-associated VAR_059774 commonName VAR_059774 VAR_059774 disease not phenotype-associated VAR_059775 commonName VAR_059775 VAR_059775 disease not phenotype-associated VAR_059777 commonName VAR_059777 VAR_059777 disease not phenotype-associated VAR_059778 commonName VAR_059778 VAR_059778 disease not phenotype-associated VAR_059779 commonName VAR_059779 VAR_059779 disease not phenotype-associated VAR_059780 commonName VAR_059780 VAR_059780 disease not phenotype-associated VAR_059781 commonName VAR_059781 VAR_059781 disease not phenotype-associated VAR_059782 commonName VAR_059782 VAR_059782 disease not phenotype-associated VAR_059783 commonName VAR_059783 VAR_059783 disease not phenotype-associated VAR_059784 commonName VAR_059784 VAR_059784 disease not phenotype-associated VAR_059785 commonName VAR_059785 VAR_059785 disease not phenotype-associated VAR_059787 commonName VAR_059787 VAR_059787 disease not phenotype-associated VAR_059789 commonName VAR_059789 VAR_059789 disease not phenotype-associated VAR_059790 commonName VAR_059790 VAR_059790 disease not phenotype-associated VAR_059791 commonName VAR_059791 VAR_059791 disease not phenotype-associated VAR_059792 commonName VAR_059792 VAR_059792 disease not phenotype-associated VAR_059796 commonName VAR_059796 VAR_059796 disease not phenotype-associated VAR_059797 commonName VAR_059797 VAR_059797 disease not phenotype-associated VAR_059798 commonName VAR_059798 VAR_059798 disease not phenotype-associated VAR_059799 commonName VAR_059799 VAR_059799 disease not phenotype-associated VAR_059800 commonName VAR_059800 VAR_059800 disease not phenotype-associated VAR_059801 commonName VAR_059801 VAR_059801 disease not phenotype-associated VAR_059802 commonName VAR_059802 VAR_059802 disease not phenotype-associated VAR_059803 commonName VAR_059803 VAR_059803 disease not phenotype-associated VAR_059804 commonName VAR_059804 VAR_059804 disease not phenotype-associated VAR_059805 commonName VAR_059805 VAR_059805 disease not phenotype-associated VAR_059806 commonName VAR_059806 VAR_059806 disease not phenotype-associated VAR_059808 commonName VAR_059808 VAR_059808 disease not phenotype-associated VAR_059809 commonName VAR_059809 VAR_059809 disease not phenotype-associated VAR_059811 commonName VAR_059811 VAR_059811 disease not phenotype-associated VAR_059812 commonName VAR_059812 VAR_059812 disease not phenotype-associated VAR_059813 commonName VAR_059813 VAR_059813 disease not phenotype-associated VAR_059814 commonName VAR_059814 VAR_059814 disease not phenotype-associated VAR_059815 commonName VAR_059815 VAR_059815 disease not phenotype-associated VAR_059816 commonName VAR_059816 VAR_059816 disease not phenotype-associated VAR_059817 commonName VAR_059817 VAR_059817 disease not phenotype-associated VAR_059818 commonName VAR_059818 VAR_059818 disease not phenotype-associated VAR_059819 commonName VAR_059819 VAR_059819 disease not phenotype-associated VAR_059820 commonName VAR_059820 VAR_059820 disease not phenotype-associated VAR_059821 commonName VAR_059821 VAR_059821 disease not phenotype-associated VAR_059822 commonName VAR_059822 VAR_059822 disease not phenotype-associated VAR_059824 commonName VAR_059824 VAR_059824 disease not phenotype-associated VAR_059826 commonName VAR_059826 VAR_059826 disease not phenotype-associated VAR_059827 commonName VAR_059827 VAR_059827 disease not phenotype-associated VAR_059828 commonName VAR_059828 VAR_059828 disease not phenotype-associated VAR_059829 commonName VAR_059829 VAR_059829 disease not phenotype-associated VAR_059830 commonName VAR_059830 VAR_059830 disease not phenotype-associated VAR_059831 commonName VAR_059831 VAR_059831 disease not phenotype-associated VAR_059832 commonName VAR_059832 VAR_059832 disease not phenotype-associated VAR_059833 commonName VAR_059833 VAR_059833 disease not phenotype-associated VAR_059834 commonName VAR_059834 VAR_059834 disease not phenotype-associated VAR_059835 commonName VAR_059835 VAR_059835 disease not phenotype-associated VAR_059836 commonName VAR_059836 VAR_059836 disease not phenotype-associated VAR_059837 commonName VAR_059837 VAR_059837 disease not phenotype-associated VAR_059838 commonName VAR_059838 VAR_059838 disease not phenotype-associated VAR_059840 commonName VAR_059840 VAR_059840 disease not phenotype-associated VAR_059841 commonName VAR_059841 VAR_059841 disease not phenotype-associated VAR_059843 commonName VAR_059843 VAR_059843 disease not phenotype-associated VAR_059844 commonName VAR_059844 VAR_059844 disease not phenotype-associated VAR_059845 commonName VAR_059845 VAR_059845 disease not phenotype-associated VAR_059846 commonName VAR_059846 VAR_059846 disease not phenotype-associated VAR_059847 commonName VAR_059847 VAR_059847 disease not phenotype-associated VAR_059848 commonName VAR_059848 VAR_059848 disease not phenotype-associated VAR_059849 commonName VAR_059849 VAR_059849 disease not phenotype-associated VAR_059850 commonName VAR_059850 VAR_059850 disease not phenotype-associated VAR_059852 commonName VAR_059852 VAR_059852 disease not phenotype-associated VAR_059853 commonName VAR_059853 VAR_059853 disease not phenotype-associated VAR_059855 commonName VAR_059855 VAR_059855 disease not phenotype-associated VAR_059856 commonName VAR_059856 VAR_059856 disease not phenotype-associated VAR_059858 commonName VAR_059858 VAR_059858 disease not phenotype-associated VAR_059859 commonName VAR_059859 VAR_059859 disease not phenotype-associated VAR_059860 commonName VAR_059860 VAR_059860 disease not phenotype-associated VAR_059861 commonName VAR_059861 VAR_059861 disease not phenotype-associated VAR_059862 commonName VAR_059862 VAR_059862 disease not phenotype-associated VAR_059863 commonName VAR_059863 VAR_059863 disease not phenotype-associated VAR_059864 commonName VAR_059864 VAR_059864 disease not phenotype-associated VAR_059865 commonName VAR_059865 VAR_059865 disease not phenotype-associated VAR_059866 commonName VAR_059866 VAR_059866 disease not phenotype-associated VAR_059867 commonName VAR_059867 VAR_059867 disease not phenotype-associated VAR_059868 commonName VAR_059868 VAR_059868 disease not phenotype-associated VAR_059869 commonName VAR_059869 VAR_059869 disease not phenotype-associated VAR_059870 commonName VAR_059870 VAR_059870 disease not phenotype-associated VAR_059871 commonName VAR_059871 VAR_059871 disease not phenotype-associated VAR_059872 commonName VAR_059872 VAR_059872 disease not phenotype-associated VAR_059873 commonName VAR_059873 VAR_059873 disease not phenotype-associated VAR_059874 commonName VAR_059874 VAR_059874 disease not phenotype-associated VAR_059875 commonName VAR_059875 VAR_059875 disease not phenotype-associated VAR_059876 commonName VAR_059876 VAR_059876 disease not phenotype-associated VAR_059877 commonName VAR_059877 VAR_059877 disease not phenotype-associated VAR_059878 commonName VAR_059878 VAR_059878 disease not phenotype-associated VAR_059879 commonName VAR_059879 VAR_059879 disease not phenotype-associated VAR_059880 commonName VAR_059880 VAR_059880 disease not phenotype-associated VAR_059881 commonName VAR_059881 VAR_059881 disease not phenotype-associated VAR_059883 commonName VAR_059883 VAR_059883 disease not phenotype-associated VAR_059884 commonName VAR_059884 VAR_059884 disease not phenotype-associated VAR_059885 commonName VAR_059885 VAR_059885 disease not phenotype-associated VAR_059886 commonName VAR_059886 VAR_059886 disease not phenotype-associated VAR_059887 commonName VAR_059887 VAR_059887 disease not phenotype-associated VAR_059888 commonName VAR_059888 VAR_059888 disease not phenotype-associated VAR_059889 commonName VAR_059889 VAR_059889 disease not phenotype-associated VAR_059890 commonName VAR_059890 VAR_059890 disease not phenotype-associated VAR_059891 commonName VAR_059891 VAR_059891 disease not phenotype-associated VAR_059892 commonName VAR_059892 VAR_059892 disease not phenotype-associated VAR_059893 commonName VAR_059893 VAR_059893 disease not phenotype-associated VAR_059894 commonName VAR_059894 VAR_059894 disease not phenotype-associated VAR_059895 commonName VAR_059895 VAR_059895 disease not phenotype-associated VAR_059896 commonName VAR_059896 VAR_059896 disease not phenotype-associated VAR_059897 commonName VAR_059897 VAR_059897 disease not phenotype-associated VAR_059898 commonName VAR_059898 VAR_059898 disease not phenotype-associated VAR_059899 commonName VAR_059899 VAR_059899 disease not phenotype-associated VAR_059900 commonName VAR_059900 VAR_059900 disease not phenotype-associated VAR_059901 commonName VAR_059901 VAR_059901 disease not phenotype-associated VAR_059902 commonName VAR_059902 VAR_059902 disease not phenotype-associated VAR_059906 commonName VAR_059906 VAR_059906 disease not phenotype-associated VAR_059907 commonName VAR_059907 VAR_059907 disease not phenotype-associated VAR_059908 commonName VAR_059908 VAR_059908 disease not phenotype-associated VAR_059909 commonName VAR_059909 VAR_059909 disease not phenotype-associated VAR_059911 commonName VAR_059911 VAR_059911 disease not phenotype-associated VAR_059913 commonName VAR_059913 VAR_059913 disease not phenotype-associated VAR_059914 commonName VAR_059914 VAR_059914 disease not phenotype-associated VAR_059915 commonName VAR_059915 VAR_059915 disease not phenotype-associated VAR_059916 commonName VAR_059916 VAR_059916 disease not phenotype-associated VAR_059917 commonName VAR_059917 VAR_059917 disease not phenotype-associated VAR_059918 commonName VAR_059918 VAR_059918 disease not phenotype-associated VAR_059919 commonName VAR_059919 VAR_059919 disease not phenotype-associated VAR_059920 commonName VAR_059920 VAR_059920 disease not phenotype-associated VAR_059921 commonName VAR_059921 VAR_059921 disease not phenotype-associated VAR_059922 commonName VAR_059922 VAR_059922 disease not phenotype-associated VAR_059923 commonName VAR_059923 VAR_059923 disease not phenotype-associated VAR_059924 commonName VAR_059924 VAR_059924 disease not phenotype-associated VAR_059925 commonName VAR_059925 VAR_059925 disease not phenotype-associated VAR_059926 commonName VAR_059926 VAR_059926 disease not phenotype-associated VAR_059927 commonName VAR_059927 VAR_059927 disease not phenotype-associated VAR_059928 commonName VAR_059928 VAR_059928 disease not phenotype-associated VAR_059929 commonName VAR_059929 VAR_059929 disease not phenotype-associated VAR_059930 commonName VAR_059930 VAR_059930 disease not phenotype-associated VAR_059931 commonName VAR_059931 VAR_059931 disease not phenotype-associated VAR_059933 commonName VAR_059933 VAR_059933 disease not phenotype-associated VAR_059934 commonName VAR_059934 VAR_059934 disease not phenotype-associated VAR_059935 commonName VAR_059935 VAR_059935 disease not phenotype-associated VAR_059936 commonName VAR_059936 VAR_059936 disease not phenotype-associated VAR_059937 commonName VAR_059937 VAR_059937 disease not phenotype-associated VAR_059938 commonName VAR_059938 VAR_059938 disease not phenotype-associated VAR_059941 commonName VAR_059941 VAR_059941 disease not phenotype-associated VAR_059942 commonName VAR_059942 VAR_059942 disease not phenotype-associated VAR_059943 commonName VAR_059943 VAR_059943 disease not phenotype-associated VAR_059944 commonName VAR_059944 VAR_059944 disease not phenotype-associated VAR_059945 commonName VAR_059945 VAR_059945 disease not phenotype-associated VAR_059946 commonName VAR_059946 VAR_059946 disease not phenotype-associated VAR_059949 commonName VAR_059949 VAR_059949 disease not phenotype-associated VAR_059950 commonName VAR_059950 VAR_059950 disease not phenotype-associated VAR_059951 commonName VAR_059951 VAR_059951 disease not phenotype-associated VAR_059952 commonName VAR_059952 VAR_059952 disease not phenotype-associated VAR_059953 commonName VAR_059953 VAR_059953 disease not phenotype-associated VAR_059956 commonName VAR_059956 VAR_059956 disease not phenotype-associated VAR_059957 commonName VAR_059957 VAR_059957 disease not phenotype-associated VAR_059959 commonName VAR_059959 VAR_059959 disease not phenotype-associated VAR_059960 commonName VAR_059960 VAR_059960 disease not phenotype-associated VAR_059961 commonName VAR_059961 VAR_059961 disease not phenotype-associated VAR_059962 commonName VAR_059962 VAR_059962 disease not phenotype-associated VAR_059963 commonName VAR_059963 VAR_059963 disease not phenotype-associated VAR_059964 commonName VAR_059964 VAR_059964 disease not phenotype-associated VAR_059965 commonName VAR_059965 VAR_059965 disease not phenotype-associated VAR_059969 commonName VAR_059969 VAR_059969 disease not phenotype-associated VAR_059970 commonName VAR_059970 VAR_059970 disease not phenotype-associated VAR_059971 commonName VAR_059971 VAR_059971 disease not phenotype-associated VAR_059972 commonName VAR_059972 VAR_059972 disease not phenotype-associated VAR_059973 commonName VAR_059973 VAR_059973 disease not phenotype-associated VAR_059975 commonName VAR_059975 VAR_059975 disease not phenotype-associated VAR_059976 commonName VAR_059976 VAR_059976 disease not phenotype-associated VAR_059978 commonName VAR_059978 VAR_059978 disease not phenotype-associated VAR_059979 commonName VAR_059979 VAR_059979 disease not phenotype-associated VAR_059980 commonName VAR_059980 VAR_059980 disease not phenotype-associated VAR_059981 commonName VAR_059981 VAR_059981 disease not phenotype-associated VAR_059982 commonName VAR_059982 VAR_059982 disease not phenotype-associated VAR_059983 commonName VAR_059983 VAR_059983 disease not phenotype-associated VAR_059984 commonName VAR_059984 VAR_059984 disease not phenotype-associated VAR_059985 commonName VAR_059985 VAR_059985 disease not phenotype-associated VAR_059986 commonName VAR_059986 VAR_059986 disease not phenotype-associated VAR_059987 commonName VAR_059987 VAR_059987 disease not phenotype-associated VAR_059988 commonName VAR_059988 VAR_059988 disease not phenotype-associated VAR_059989 commonName VAR_059989 VAR_059989 disease not phenotype-associated VAR_059990 commonName VAR_059990 VAR_059990 disease not phenotype-associated VAR_059991 commonName VAR_059991 VAR_059991 disease not phenotype-associated VAR_059992 commonName VAR_059992 VAR_059992 disease not phenotype-associated VAR_059993 commonName VAR_059993 VAR_059993 disease not phenotype-associated VAR_059994 commonName VAR_059994 VAR_059994 disease not phenotype-associated VAR_059995 commonName VAR_059995 VAR_059995 disease not phenotype-associated VAR_059996 commonName VAR_059996 VAR_059996 disease not phenotype-associated VAR_059997 commonName VAR_059997 VAR_059997 disease not phenotype-associated VAR_059998 commonName VAR_059998 VAR_059998 disease not phenotype-associated VAR_059999 commonName VAR_059999 VAR_059999 disease not phenotype-associated VAR_060000 commonName VAR_060000 VAR_060000 disease not phenotype-associated VAR_060001 commonName VAR_060001 VAR_060001 disease not phenotype-associated VAR_060002 commonName VAR_060002 VAR_060002 disease not phenotype-associated VAR_060003 commonName VAR_060003 VAR_060003 disease not phenotype-associated VAR_060004 commonName VAR_060004 VAR_060004 disease not phenotype-associated VAR_060005 commonName VAR_060005 VAR_060005 disease not phenotype-associated VAR_060006 commonName VAR_060006 VAR_060006 disease not phenotype-associated VAR_060007 commonName VAR_060007 VAR_060007 disease not phenotype-associated VAR_060008 commonName VAR_060008 VAR_060008 disease not phenotype-associated VAR_060009 commonName VAR_060009 VAR_060009 disease not phenotype-associated VAR_060010 commonName VAR_060010 VAR_060010 disease not phenotype-associated VAR_060011 commonName VAR_060011 VAR_060011 disease not phenotype-associated VAR_060012 commonName VAR_060012 VAR_060012 disease not phenotype-associated VAR_060013 commonName VAR_060013 VAR_060013 disease not phenotype-associated VAR_060022 commonName VAR_060022 VAR_060022 disease not phenotype-associated VAR_060023 commonName VAR_060023 VAR_060023 disease not phenotype-associated VAR_060025 commonName VAR_060025 VAR_060025 disease not phenotype-associated VAR_060026 commonName VAR_060026 VAR_060026 disease not phenotype-associated VAR_060027 commonName VAR_060027 VAR_060027 disease not phenotype-associated VAR_060028 commonName VAR_060028 VAR_060028 disease not phenotype-associated VAR_060029 commonName VAR_060029 VAR_060029 disease not phenotype-associated VAR_060030 commonName VAR_060030 VAR_060030 disease not phenotype-associated VAR_060031 commonName VAR_060031 VAR_060031 disease not phenotype-associated VAR_060032 commonName VAR_060032 VAR_060032 disease not phenotype-associated VAR_060033 commonName VAR_060033 VAR_060033 disease not phenotype-associated VAR_060034 commonName VAR_060034 VAR_060034 disease not phenotype-associated VAR_060035 commonName VAR_060035 VAR_060035 disease not phenotype-associated VAR_060036 commonName VAR_060036 VAR_060036 disease not phenotype-associated VAR_060037 commonName VAR_060037 VAR_060037 disease not phenotype-associated VAR_060038 commonName VAR_060038 VAR_060038 disease not phenotype-associated VAR_060039 commonName VAR_060039 VAR_060039 disease not phenotype-associated VAR_060040 commonName VAR_060040 VAR_060040 disease not phenotype-associated VAR_060041 commonName VAR_060041 VAR_060041 disease not phenotype-associated VAR_060042 commonName VAR_060042 VAR_060042 disease not phenotype-associated VAR_060043 commonName VAR_060043 VAR_060043 disease not phenotype-associated VAR_060044 commonName VAR_060044 VAR_060044 disease not phenotype-associated VAR_060045 commonName VAR_060045 VAR_060045 disease not phenotype-associated VAR_060046 commonName VAR_060046 VAR_060046 disease not phenotype-associated VAR_060049 commonName VAR_060049 VAR_060049 disease not phenotype-associated VAR_060050 commonName VAR_060050 VAR_060050 disease not phenotype-associated VAR_060052 commonName VAR_060052 VAR_060052 disease not phenotype-associated VAR_060053 commonName VAR_060053 VAR_060053 disease not phenotype-associated VAR_060054 commonName VAR_060054 VAR_060054 disease not phenotype-associated VAR_060055 commonName VAR_060055 VAR_060055 disease not phenotype-associated VAR_060056 commonName VAR_060056 VAR_060056 disease not phenotype-associated VAR_060057 commonName VAR_060057 VAR_060057 disease not phenotype-associated VAR_060058 commonName VAR_060058 VAR_060058 disease not phenotype-associated VAR_060059 commonName VAR_060059 VAR_060059 disease not phenotype-associated VAR_060060 commonName VAR_060060 VAR_060060 disease not phenotype-associated VAR_060061 commonName VAR_060061 VAR_060061 disease not phenotype-associated VAR_060062 commonName VAR_060062 VAR_060062 disease not phenotype-associated VAR_060063 commonName VAR_060063 VAR_060063 disease not phenotype-associated VAR_060064 commonName VAR_060064 VAR_060064 disease not phenotype-associated VAR_060065 commonName VAR_060065 VAR_060065 disease not phenotype-associated VAR_060066 commonName VAR_060066 VAR_060066 disease not phenotype-associated VAR_060067 commonName VAR_060067 VAR_060067 disease not phenotype-associated VAR_060068 commonName VAR_060068 VAR_060068 disease not phenotype-associated VAR_060069 commonName VAR_060069 VAR_060069 disease not phenotype-associated VAR_060070 commonName VAR_060070 VAR_060070 disease not phenotype-associated VAR_060071 commonName VAR_060071 VAR_060071 disease not phenotype-associated VAR_060073 commonName VAR_060073 VAR_060073 disease not phenotype-associated VAR_060075 commonName VAR_060075 VAR_060075 disease not phenotype-associated VAR_060076 commonName VAR_060076 VAR_060076 disease not phenotype-associated VAR_060077 commonName VAR_060077 VAR_060077 disease not phenotype-associated VAR_060078 commonName VAR_060078 VAR_060078 disease not phenotype-associated VAR_060079 commonName VAR_060079 VAR_060079 disease not phenotype-associated VAR_060080 commonName VAR_060080 VAR_060080 disease not phenotype-associated VAR_060081 commonName VAR_060081 VAR_060081 disease not phenotype-associated VAR_060083 commonName VAR_060083 VAR_060083 disease not phenotype-associated VAR_060085 commonName VAR_060085 VAR_060085 disease not phenotype-associated VAR_060086 commonName VAR_060086 VAR_060086 disease not phenotype-associated VAR_060087 commonName VAR_060087 VAR_060087 disease not phenotype-associated VAR_060088 commonName VAR_060088 VAR_060088 disease not phenotype-associated VAR_060089 commonName VAR_060089 VAR_060089 disease not phenotype-associated VAR_060090 commonName VAR_060090 VAR_060090 disease not phenotype-associated VAR_060091 commonName VAR_060091 VAR_060091 disease not phenotype-associated VAR_060092 commonName VAR_060092 VAR_060092 disease not phenotype-associated VAR_060093 commonName VAR_060093 VAR_060093 disease not phenotype-associated VAR_060094 commonName VAR_060094 VAR_060094 disease not phenotype-associated VAR_060095 commonName VAR_060095 VAR_060095 disease not phenotype-associated VAR_060096 commonName VAR_060096 VAR_060096 disease not phenotype-associated VAR_060097 commonName VAR_060097 VAR_060097 disease not phenotype-associated VAR_060098 commonName VAR_060098 VAR_060098 disease not phenotype-associated VAR_060099 commonName VAR_060099 VAR_060099 disease not phenotype-associated VAR_060100 commonName VAR_060100 VAR_060100 disease not phenotype-associated VAR_060101 commonName VAR_060101 VAR_060101 disease not phenotype-associated VAR_060103 commonName VAR_060103 VAR_060103 disease not phenotype-associated VAR_060104 commonName VAR_060104 VAR_060104 disease not phenotype-associated VAR_060106 commonName VAR_060106 VAR_060106 disease not phenotype-associated VAR_060107 commonName VAR_060107 VAR_060107 disease not phenotype-associated VAR_060108 commonName VAR_060108 VAR_060108 disease not phenotype-associated VAR_060109 commonName VAR_060109 VAR_060109 disease not phenotype-associated VAR_060110 commonName VAR_060110 VAR_060110 disease not phenotype-associated VAR_060111 commonName VAR_060111 VAR_060111 disease not phenotype-associated VAR_060113 commonName VAR_060113 VAR_060113 disease not phenotype-associated VAR_060114 commonName VAR_060114 VAR_060114 disease not phenotype-associated VAR_060115 commonName VAR_060115 VAR_060115 disease not phenotype-associated VAR_060116 commonName VAR_060116 VAR_060116 disease not phenotype-associated VAR_060117 commonName VAR_060117 VAR_060117 disease not phenotype-associated VAR_060118 commonName VAR_060118 VAR_060118 disease not phenotype-associated VAR_060119 commonName VAR_060119 VAR_060119 disease not phenotype-associated VAR_060122 commonName VAR_060122 VAR_060122 disease not phenotype-associated VAR_060123 commonName VAR_060123 VAR_060123 disease not phenotype-associated VAR_060124 commonName VAR_060124 VAR_060124 disease not phenotype-associated VAR_060126 commonName VAR_060126 VAR_060126 disease not phenotype-associated VAR_060127 commonName VAR_060127 VAR_060127 disease not phenotype-associated VAR_060128 commonName VAR_060128 VAR_060128 disease not phenotype-associated VAR_060129 commonName VAR_060129 VAR_060129 disease not phenotype-associated VAR_060130 commonName VAR_060130 VAR_060130 disease not phenotype-associated VAR_060131 commonName VAR_060131 VAR_060131 disease not phenotype-associated VAR_060132 commonName VAR_060132 VAR_060132 disease not phenotype-associated VAR_060133 commonName VAR_060133 VAR_060133 disease not phenotype-associated VAR_060134 commonName VAR_060134 VAR_060134 disease not phenotype-associated VAR_060135 commonName VAR_060135 VAR_060135 disease not phenotype-associated VAR_060136 commonName VAR_060136 VAR_060136 disease not phenotype-associated VAR_060137 commonName VAR_060137 VAR_060137 disease not phenotype-associated VAR_060138 commonName VAR_060138 VAR_060138 disease not phenotype-associated VAR_060139 commonName VAR_060139 VAR_060139 disease not phenotype-associated VAR_060140 commonName VAR_060140 VAR_060140 disease not phenotype-associated VAR_060142 commonName VAR_060142 VAR_060142 disease not phenotype-associated VAR_060143 commonName VAR_060143 VAR_060143 disease not phenotype-associated VAR_060144 commonName VAR_060144 VAR_060144 disease not phenotype-associated VAR_060145 commonName VAR_060145 VAR_060145 disease not phenotype-associated VAR_060146 commonName VAR_060146 VAR_060146 disease not phenotype-associated VAR_060147 commonName VAR_060147 VAR_060147 disease not phenotype-associated VAR_060148 commonName VAR_060148 VAR_060148 disease not phenotype-associated VAR_060149 commonName VAR_060149 VAR_060149 disease not phenotype-associated VAR_060150 commonName VAR_060150 VAR_060150 disease not phenotype-associated VAR_060151 commonName VAR_060151 VAR_060151 disease not phenotype-associated VAR_060154 commonName VAR_060154 VAR_060154 disease not phenotype-associated VAR_060155 commonName VAR_060155 VAR_060155 disease not phenotype-associated VAR_060158 commonName VAR_060158 VAR_060158 disease not phenotype-associated VAR_060159 commonName VAR_060159 VAR_060159 disease not phenotype-associated VAR_060160 commonName VAR_060160 VAR_060160 disease not phenotype-associated VAR_060161 commonName VAR_060161 VAR_060161 disease not phenotype-associated VAR_060162 commonName VAR_060162 VAR_060162 disease not phenotype-associated VAR_060163 commonName VAR_060163 VAR_060163 disease not phenotype-associated VAR_060164 commonName VAR_060164 VAR_060164 disease not phenotype-associated VAR_060165 commonName VAR_060165 VAR_060165 disease not phenotype-associated VAR_060166 commonName VAR_060166 VAR_060166 disease not phenotype-associated VAR_060167 commonName VAR_060167 VAR_060167 disease not phenotype-associated VAR_060168 commonName VAR_060168 VAR_060168 disease not phenotype-associated VAR_060169 commonName VAR_060169 VAR_060169 disease not phenotype-associated VAR_060170 commonName VAR_060170 VAR_060170 disease not phenotype-associated VAR_060171 commonName VAR_060171 VAR_060171 disease not phenotype-associated VAR_060172 commonName VAR_060172 VAR_060172 disease not phenotype-associated VAR_060173 commonName VAR_060173 VAR_060173 disease not phenotype-associated VAR_060174 commonName VAR_060174 VAR_060174 disease not phenotype-associated VAR_060175 commonName VAR_060175 VAR_060175 disease not phenotype-associated VAR_060176 commonName VAR_060176 VAR_060176 disease not phenotype-associated VAR_060177 commonName VAR_060177 VAR_060177 disease not phenotype-associated VAR_060178 commonName VAR_060178 VAR_060178 disease not phenotype-associated VAR_060179 commonName VAR_060179 VAR_060179 disease not phenotype-associated VAR_060180 commonName VAR_060180 VAR_060180 disease not phenotype-associated VAR_060183 commonName VAR_060183 VAR_060183 disease not phenotype-associated VAR_060184 commonName VAR_060184 VAR_060184 disease not phenotype-associated VAR_060185 commonName VAR_060185 VAR_060185 disease not phenotype-associated VAR_060186 commonName VAR_060186 VAR_060186 disease not phenotype-associated VAR_060187 commonName VAR_060187 VAR_060187 disease not phenotype-associated VAR_060190 commonName VAR_060190 VAR_060190 disease not phenotype-associated VAR_060191 commonName VAR_060191 VAR_060191 disease not phenotype-associated VAR_060192 commonName VAR_060192 VAR_060192 disease not phenotype-associated VAR_060194 commonName VAR_060194 VAR_060194 disease not phenotype-associated VAR_060195 commonName VAR_060195 VAR_060195 disease not phenotype-associated VAR_060196 commonName VAR_060196 VAR_060196 disease not phenotype-associated VAR_060197 commonName VAR_060197 VAR_060197 disease not phenotype-associated VAR_060198 commonName VAR_060198 VAR_060198 disease not phenotype-associated VAR_060199 commonName VAR_060199 VAR_060199 disease phenotype-associated VAR_060199 phenoCommon Noonan syndrome-like disorder with loose anagen hair (NSLH) [MIM:607721] VAR_060200 commonName VAR_060200 VAR_060200 disease not phenotype-associated VAR_060201 commonName VAR_060201 VAR_060201 disease not phenotype-associated VAR_060202 commonName VAR_060202 VAR_060202 disease not phenotype-associated VAR_060203 commonName VAR_060203 VAR_060204 commonName VAR_060204 VAR_060206 commonName VAR_060206 VAR_060206 disease phenotype-associated VAR_060206 phenoCommon Epilepsy, idiopathic generalized type 8 (EIG8) [MIM:612899] VAR_060207 commonName VAR_060207 VAR_060207 disease phenotype-associated VAR_060207 phenoCommon Epilepsy, idiopathic generalized type 8 (EIG8) [MIM:612899] VAR_060208 commonName VAR_060208 VAR_060208 disease phenotype-associated VAR_060208 phenoCommon Epilepsy, idiopathic generalized type 8 (EIG8) [MIM:612899] VAR_060209 commonName VAR_060209 VAR_060209 disease phenotype-associated VAR_060209 phenoCommon Epilepsy, idiopathic generalized type 8 (EIG8) [MIM:612899] VAR_060210 commonName VAR_060210 VAR_060210 disease phenotype-associated VAR_060210 phenoCommon Epilepsy, idiopathic generalized type 8 (EIG8) [MIM:612899] VAR_060211 commonName VAR_060211 VAR_060211 disease not phenotype-associated VAR_060212 commonName VAR_060212 VAR_060212 disease not phenotype-associated VAR_060216 commonName VAR_060216 VAR_060216 disease not phenotype-associated VAR_060217 commonName VAR_060217 VAR_060217 disease phenotype-associated VAR_060217 phenoCommon Mulibrey nanism (MUL) [MIM:253250] VAR_060218 commonName VAR_060218 VAR_060218 disease not phenotype-associated VAR_060219 commonName VAR_060219 VAR_060219 disease phenotype-associated VAR_060219 phenoCommon Mulibrey nanism (MUL) [MIM:253250] VAR_060220 commonName VAR_060220 VAR_060220 disease phenotype-associated VAR_060220 phenoCommon Mulibrey nanism (MUL) [MIM:253250] VAR_060221 commonName VAR_060221 VAR_060221 disease phenotype-associated VAR_060221 phenoCommon Urocanase deficiency (UROD) [MIM:276880] VAR_060222 commonName VAR_060222 VAR_060222 disease not phenotype-associated VAR_060223 commonName VAR_060223 VAR_060223 disease not phenotype-associated VAR_060224 commonName VAR_060224 VAR_060224 disease not phenotype-associated VAR_060225 commonName VAR_060225 VAR_060225 disease not phenotype-associated VAR_060226 commonName VAR_060226 VAR_060226 disease not phenotype-associated VAR_060227 commonName VAR_060227 VAR_060227 disease not phenotype-associated VAR_060228 commonName VAR_060228 VAR_060228 disease not phenotype-associated VAR_060229 commonName VAR_060229 VAR_060229 disease not phenotype-associated VAR_060230 commonName VAR_060230 VAR_060230 disease not phenotype-associated VAR_060231 commonName VAR_060231 VAR_060231 disease not phenotype-associated VAR_060232 commonName VAR_060232 VAR_060232 disease not phenotype-associated VAR_060233 commonName VAR_060233 VAR_060233 disease not phenotype-associated VAR_060235 commonName VAR_060235 VAR_060235 disease not phenotype-associated VAR_060236 commonName VAR_060236 VAR_060236 disease not phenotype-associated VAR_060237 commonName VAR_060237 VAR_060237 disease not phenotype-associated VAR_060238 commonName VAR_060238 VAR_060238 disease not phenotype-associated VAR_060239 commonName VAR_060239 VAR_060239 disease not phenotype-associated VAR_060240 commonName VAR_060240 VAR_060240 disease not phenotype-associated VAR_060241 commonName VAR_060241 VAR_060241 disease not phenotype-associated VAR_060242 commonName VAR_060242 VAR_060242 disease not phenotype-associated VAR_060243 commonName VAR_060243 VAR_060243 disease not phenotype-associated VAR_060244 commonName VAR_060244 VAR_060244 disease not phenotype-associated VAR_060245 commonName VAR_060245 VAR_060245 disease not phenotype-associated VAR_060246 commonName VAR_060246 VAR_060246 disease not phenotype-associated VAR_060247 commonName VAR_060247 VAR_060247 disease not phenotype-associated VAR_060248 commonName VAR_060248 VAR_060248 disease not phenotype-associated VAR_060249 commonName VAR_060249 VAR_060249 disease not phenotype-associated VAR_060250 commonName VAR_060250 VAR_060250 disease not phenotype-associated VAR_060251 commonName VAR_060251 VAR_060251 disease not phenotype-associated VAR_060252 commonName VAR_060252 VAR_060252 disease not phenotype-associated VAR_060253 commonName VAR_060253 VAR_060253 disease not phenotype-associated VAR_060254 commonName VAR_060254 VAR_060254 disease not phenotype-associated VAR_060255 commonName VAR_060255 VAR_060255 disease not phenotype-associated VAR_060256 commonName VAR_060256 VAR_060256 disease not phenotype-associated VAR_060257 commonName VAR_060257 VAR_060257 disease not phenotype-associated VAR_060258 commonName VAR_060258 VAR_060258 disease not phenotype-associated VAR_060260 commonName VAR_060260 VAR_060260 disease not phenotype-associated VAR_060261 commonName VAR_060261 VAR_060261 disease not phenotype-associated VAR_060262 commonName VAR_060262 VAR_060262 disease not phenotype-associated VAR_060265 commonName VAR_060265 VAR_060265 disease not phenotype-associated VAR_060266 commonName VAR_060266 VAR_060266 disease not phenotype-associated VAR_060267 commonName VAR_060267 VAR_060267 disease not phenotype-associated VAR_060269 commonName VAR_060269 VAR_060269 disease not phenotype-associated VAR_060270 commonName VAR_060270 VAR_060270 disease not phenotype-associated VAR_060271 commonName VAR_060271 VAR_060271 disease not phenotype-associated VAR_060272 commonName VAR_060272 VAR_060272 disease not phenotype-associated VAR_060273 commonName VAR_060273 VAR_060273 disease not phenotype-associated VAR_060274 commonName VAR_060274 VAR_060274 disease not phenotype-associated VAR_060275 commonName VAR_060275 VAR_060275 disease not phenotype-associated VAR_060276 commonName VAR_060276 VAR_060276 disease not phenotype-associated VAR_060277 commonName VAR_060277 VAR_060277 disease not phenotype-associated VAR_060278 commonName VAR_060278 VAR_060278 disease not phenotype-associated VAR_060279 commonName VAR_060279 VAR_060279 disease not phenotype-associated VAR_060280 commonName VAR_060280 VAR_060280 disease not phenotype-associated VAR_060281 commonName VAR_060281 VAR_060281 disease not phenotype-associated VAR_060282 commonName VAR_060282 VAR_060282 disease not phenotype-associated VAR_060283 commonName VAR_060283 VAR_060283 disease not phenotype-associated VAR_060284 commonName VAR_060284 VAR_060284 disease not phenotype-associated VAR_060285 commonName VAR_060285 VAR_060285 disease not phenotype-associated VAR_060286 commonName VAR_060286 VAR_060286 disease not phenotype-associated VAR_060287 commonName VAR_060287 VAR_060287 disease not phenotype-associated VAR_060288 commonName VAR_060288 VAR_060288 disease not phenotype-associated VAR_060289 commonName VAR_060289 VAR_060289 disease not phenotype-associated VAR_060290 commonName VAR_060290 VAR_060290 disease not phenotype-associated VAR_060291 commonName VAR_060291 VAR_060291 disease not phenotype-associated VAR_060292 commonName VAR_060292 VAR_060292 disease not phenotype-associated VAR_060293 commonName VAR_060293 VAR_060293 disease not phenotype-associated VAR_060294 commonName VAR_060294 VAR_060294 disease not phenotype-associated VAR_060295 commonName VAR_060295 VAR_060295 disease not phenotype-associated VAR_060296 commonName VAR_060296 VAR_060296 disease not phenotype-associated VAR_060297 commonName VAR_060297 VAR_060297 disease not phenotype-associated VAR_060298 commonName VAR_060298 VAR_060298 disease not phenotype-associated VAR_060299 commonName VAR_060299 VAR_060299 disease not phenotype-associated VAR_060311 commonName VAR_060311 VAR_060311 disease not phenotype-associated VAR_060312 commonName VAR_060312 VAR_060312 disease not phenotype-associated VAR_060313 commonName VAR_060313 VAR_060313 disease not phenotype-associated VAR_060314 commonName VAR_060314 VAR_060314 disease not phenotype-associated VAR_060315 commonName VAR_060315 VAR_060315 disease not phenotype-associated VAR_060316 commonName VAR_060316 VAR_060316 disease not phenotype-associated VAR_060317 commonName VAR_060317 VAR_060317 disease not phenotype-associated VAR_060320 commonName VAR_060320 VAR_060320 disease not phenotype-associated VAR_060321 commonName VAR_060321 VAR_060321 disease not phenotype-associated VAR_060322 commonName VAR_060322 VAR_060322 disease not phenotype-associated VAR_060323 commonName VAR_060323 VAR_060323 disease not phenotype-associated VAR_060324 commonName VAR_060324 VAR_060324 disease not phenotype-associated VAR_060325 commonName VAR_060325 VAR_060325 disease not phenotype-associated VAR_060326 commonName VAR_060326 VAR_060326 disease not phenotype-associated VAR_060327 commonName VAR_060327 VAR_060327 disease not phenotype-associated VAR_060328 commonName VAR_060328 VAR_060328 disease not phenotype-associated VAR_060330 commonName VAR_060330 VAR_060330 disease not phenotype-associated VAR_060335 commonName VAR_060335 VAR_060335 disease not phenotype-associated VAR_060336 commonName VAR_060336 VAR_060336 disease not phenotype-associated VAR_060337 commonName VAR_060337 VAR_060337 disease not phenotype-associated VAR_060338 commonName VAR_060338 VAR_060338 disease not phenotype-associated VAR_060339 commonName VAR_060339 VAR_060339 disease not phenotype-associated VAR_060340 commonName VAR_060340 VAR_060340 disease not phenotype-associated VAR_060341 commonName VAR_060341 VAR_060341 disease not phenotype-associated VAR_060342 commonName VAR_060342 VAR_060342 disease not phenotype-associated VAR_060344 commonName VAR_060344 VAR_060344 disease not phenotype-associated VAR_060345 commonName VAR_060345 VAR_060345 disease not phenotype-associated VAR_060346 commonName VAR_060346 VAR_060346 disease not phenotype-associated VAR_060347 commonName VAR_060347 VAR_060347 disease not phenotype-associated VAR_060348 commonName VAR_060348 VAR_060348 disease not phenotype-associated VAR_060349 commonName VAR_060349 VAR_060349 disease not phenotype-associated VAR_060350 commonName VAR_060350 VAR_060350 disease not phenotype-associated VAR_060351 commonName VAR_060351 VAR_060351 disease not phenotype-associated VAR_060352 commonName VAR_060352 VAR_060352 disease not phenotype-associated VAR_060353 commonName VAR_060353 VAR_060353 disease not phenotype-associated VAR_060354 commonName VAR_060354 VAR_060354 disease not phenotype-associated VAR_060355 commonName VAR_060355 VAR_060355 disease not phenotype-associated VAR_060356 commonName VAR_060356 VAR_060356 disease not phenotype-associated VAR_060357 commonName VAR_060357 VAR_060357 disease not phenotype-associated VAR_060358 commonName VAR_060358 VAR_060358 disease not phenotype-associated VAR_060359 commonName VAR_060359 VAR_060359 disease not phenotype-associated VAR_060360 commonName VAR_060360 VAR_060360 disease not phenotype-associated VAR_060361 commonName VAR_060361 VAR_060361 disease not phenotype-associated VAR_060362 commonName VAR_060362 VAR_060362 disease not phenotype-associated VAR_060363 commonName VAR_060363 VAR_060363 disease not phenotype-associated VAR_060364 commonName VAR_060364 VAR_060364 disease not phenotype-associated VAR_060365 commonName VAR_060365 VAR_060365 disease not phenotype-associated VAR_060366 commonName VAR_060366 VAR_060366 disease not phenotype-associated VAR_060368 commonName VAR_060368 VAR_060368 disease not phenotype-associated VAR_060369 commonName VAR_060369 VAR_060369 disease not phenotype-associated VAR_060370 commonName VAR_060370 VAR_060370 disease not phenotype-associated VAR_060372 commonName VAR_060372 VAR_060372 disease not phenotype-associated VAR_060373 commonName VAR_060373 VAR_060373 disease not phenotype-associated VAR_060374 commonName VAR_060374 VAR_060374 disease not phenotype-associated VAR_060375 commonName VAR_060375 VAR_060375 disease not phenotype-associated VAR_060376 commonName VAR_060376 VAR_060376 disease not phenotype-associated VAR_060383 commonName VAR_060383 VAR_060383 disease not phenotype-associated VAR_060384 commonName VAR_060384 VAR_060384 disease not phenotype-associated VAR_060385 commonName VAR_060385 VAR_060385 disease not phenotype-associated VAR_060386 commonName VAR_060386 VAR_060386 disease not phenotype-associated VAR_060387 commonName VAR_060387 VAR_060387 disease not phenotype-associated VAR_060388 commonName VAR_060388 VAR_060388 disease not phenotype-associated VAR_060391 commonName VAR_060391 VAR_060391 disease not phenotype-associated VAR_060392 commonName VAR_060392 VAR_060392 disease not phenotype-associated VAR_060393 commonName VAR_060393 VAR_060393 disease not phenotype-associated VAR_060394 commonName VAR_060394 VAR_060394 disease not phenotype-associated VAR_060395 commonName VAR_060395 VAR_060395 disease not phenotype-associated VAR_060396 commonName VAR_060396 VAR_060396 disease not phenotype-associated VAR_060397 commonName VAR_060397 VAR_060397 disease not phenotype-associated VAR_060398 commonName VAR_060398 VAR_060398 disease not phenotype-associated VAR_060399 commonName VAR_060399 VAR_060399 disease not phenotype-associated VAR_060400 commonName VAR_060400 VAR_060400 disease not phenotype-associated VAR_060402 commonName VAR_060402 VAR_060402 disease not phenotype-associated VAR_060403 commonName VAR_060403 VAR_060403 disease not phenotype-associated VAR_060404 commonName VAR_060404 VAR_060404 disease not phenotype-associated VAR_060405 commonName VAR_060405 VAR_060405 disease not phenotype-associated VAR_060406 commonName VAR_060406 VAR_060406 disease not phenotype-associated VAR_060407 commonName VAR_060407 VAR_060407 disease not phenotype-associated VAR_060408 commonName VAR_060408 VAR_060408 disease not phenotype-associated VAR_060409 commonName VAR_060409 VAR_060409 disease not phenotype-associated VAR_060410 commonName VAR_060410 VAR_060410 disease not phenotype-associated VAR_060411 commonName VAR_060411 VAR_060411 disease not phenotype-associated VAR_060412 commonName VAR_060412 VAR_060412 disease not phenotype-associated VAR_060413 commonName VAR_060413 VAR_060413 disease not phenotype-associated VAR_060414 commonName VAR_060414 VAR_060414 disease not phenotype-associated VAR_060415 commonName VAR_060415 VAR_060415 disease not phenotype-associated VAR_060416 commonName VAR_060416 VAR_060416 disease not phenotype-associated VAR_060417 commonName VAR_060417 VAR_060417 disease not phenotype-associated VAR_060418 commonName VAR_060418 VAR_060418 disease not phenotype-associated VAR_060419 commonName VAR_060419 VAR_060419 disease not phenotype-associated VAR_060420 commonName VAR_060420 VAR_060420 disease not phenotype-associated VAR_060421 commonName VAR_060421 VAR_060421 disease not phenotype-associated VAR_060422 commonName VAR_060422 VAR_060422 disease not phenotype-associated VAR_060424 commonName VAR_060424 VAR_060424 disease not phenotype-associated VAR_060425 commonName VAR_060425 VAR_060425 disease not phenotype-associated VAR_060428 commonName VAR_060428 VAR_060428 disease not phenotype-associated VAR_060429 commonName VAR_060429 VAR_060429 disease not phenotype-associated VAR_060430 commonName VAR_060430 VAR_060430 disease not phenotype-associated VAR_060431 commonName VAR_060431 VAR_060431 disease not phenotype-associated VAR_060432 commonName VAR_060432 VAR_060432 disease not phenotype-associated VAR_060433 commonName VAR_060433 VAR_060433 disease not phenotype-associated VAR_060434 commonName VAR_060434 VAR_060434 disease not phenotype-associated VAR_060435 commonName VAR_060435 VAR_060435 disease not phenotype-associated VAR_060436 commonName VAR_060436 VAR_060436 disease not phenotype-associated VAR_060437 commonName VAR_060437 VAR_060437 disease not phenotype-associated VAR_060438 commonName VAR_060438 VAR_060438 disease not phenotype-associated VAR_060439 commonName VAR_060439 VAR_060439 disease not phenotype-associated VAR_060440 commonName VAR_060440 VAR_060440 disease not phenotype-associated VAR_060441 commonName VAR_060441 VAR_060441 disease not phenotype-associated VAR_060442 commonName VAR_060442 VAR_060442 disease not phenotype-associated VAR_060443 commonName VAR_060443 VAR_060443 disease not phenotype-associated VAR_060444 commonName VAR_060444 VAR_060444 disease not phenotype-associated VAR_060445 commonName VAR_060445 VAR_060445 disease not phenotype-associated VAR_060446 commonName VAR_060446 VAR_060446 disease not phenotype-associated VAR_060447 commonName VAR_060447 VAR_060447 disease not phenotype-associated VAR_060448 commonName VAR_060448 VAR_060448 disease not phenotype-associated VAR_060449 commonName VAR_060449 VAR_060449 disease not phenotype-associated VAR_060450 commonName VAR_060450 VAR_060450 disease not phenotype-associated VAR_060451 commonName VAR_060451 VAR_060451 disease not phenotype-associated VAR_060452 commonName VAR_060452 VAR_060452 disease not phenotype-associated VAR_060453 commonName VAR_060453 VAR_060453 disease not phenotype-associated VAR_060454 commonName VAR_060454 VAR_060454 disease not phenotype-associated VAR_060455 commonName VAR_060455 VAR_060455 disease not phenotype-associated VAR_060456 commonName VAR_060456 VAR_060456 disease not phenotype-associated VAR_060460 commonName VAR_060460 VAR_060460 disease not phenotype-associated VAR_060461 commonName VAR_060461 VAR_060461 disease not phenotype-associated VAR_060462 commonName VAR_060462 VAR_060462 disease not phenotype-associated VAR_060463 commonName VAR_060463 VAR_060463 disease not phenotype-associated VAR_060465 commonName VAR_060465 VAR_060465 disease not phenotype-associated VAR_060466 commonName VAR_060466 VAR_060466 disease not phenotype-associated VAR_060467 commonName VAR_060467 VAR_060467 disease not phenotype-associated VAR_060469 commonName VAR_060469 VAR_060469 disease not phenotype-associated VAR_060470 commonName VAR_060470 VAR_060470 disease not phenotype-associated VAR_060471 commonName VAR_060471 VAR_060471 disease not phenotype-associated VAR_060472 commonName VAR_060472 VAR_060472 disease not phenotype-associated VAR_060476 commonName VAR_060476 VAR_060476 disease not phenotype-associated VAR_060477 commonName VAR_060477 VAR_060477 disease not phenotype-associated VAR_060478 commonName VAR_060478 VAR_060478 disease not phenotype-associated VAR_060479 commonName VAR_060479 VAR_060479 disease not phenotype-associated VAR_060480 commonName VAR_060480 VAR_060480 disease not phenotype-associated VAR_060481 commonName VAR_060481 VAR_060481 disease not phenotype-associated VAR_060482 commonName VAR_060482 VAR_060482 disease not phenotype-associated VAR_060483 commonName VAR_060483 VAR_060483 disease not phenotype-associated VAR_060484 commonName VAR_060484 VAR_060484 disease not phenotype-associated VAR_060485 commonName VAR_060485 VAR_060485 disease not phenotype-associated VAR_060486 commonName VAR_060486 VAR_060486 disease not phenotype-associated VAR_060487 commonName VAR_060487 VAR_060487 disease not phenotype-associated VAR_060490 commonName VAR_060490 VAR_060491 commonName VAR_060491 VAR_060491 disease phenotype-associated VAR_060491 phenoCommon Retinitis pigmentosa type 45 (RP45) [MIM:613767] VAR_060492 commonName VAR_060492 VAR_060492 disease phenotype-associated VAR_060492 phenoCommon Deafness with labyrinthine aplasia, microtia and microdontia (LAMM) [MIM:610706] VAR_060534 commonName VAR_060534 VAR_060534 disease not phenotype-associated VAR_060535 commonName VAR_060535 VAR_060535 disease not phenotype-associated VAR_060536 commonName VAR_060536 VAR_060536 disease not phenotype-associated VAR_060541 commonName VAR_060541 VAR_060541 disease not phenotype-associated VAR_060543 commonName VAR_060543 VAR_060543 disease not phenotype-associated VAR_060544 commonName VAR_060544 VAR_060544 disease not phenotype-associated VAR_060545 commonName VAR_060545 VAR_060545 disease not phenotype-associated VAR_060546 commonName VAR_060546 VAR_060546 disease not phenotype-associated VAR_060547 commonName VAR_060547 VAR_060547 disease phenotype-associated VAR_060547 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900] VAR_060548 commonName VAR_060548 VAR_060548 disease phenotype-associated VAR_060548 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900] VAR_060549 commonName VAR_060549 VAR_060549 disease phenotype-associated VAR_060549 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900] VAR_060550 commonName VAR_060550 VAR_060550 disease phenotype-associated VAR_060550 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900] VAR_060552 commonName VAR_060552 VAR_060552 disease phenotype-associated VAR_060552 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900] VAR_060553 commonName VAR_060553 VAR_060553 disease phenotype-associated VAR_060553 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900] VAR_060554 commonName VAR_060554 VAR_060554 disease phenotype-associated VAR_060554 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900] VAR_060555 commonName VAR_060555 VAR_060555 disease phenotype-associated VAR_060555 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900] VAR_060556 commonName VAR_060556 VAR_060556 disease phenotype-associated VAR_060556 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900] VAR_060557 commonName VAR_060557 VAR_060557 disease phenotype-associated VAR_060557 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900] VAR_060558 commonName VAR_060558 VAR_060558 disease phenotype-associated VAR_060558 phenoCommon Hyperoxaluria primary type 1 (HP1) [MIM:259900] VAR_060573 commonName VAR_060573 VAR_060573 disease phenotype-associated VAR_060573 phenoCommon Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143] VAR_060575 commonName VAR_060575 VAR_060575 disease phenotype-associated VAR_060575 phenoCommon Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143] VAR_060576 commonName VAR_060576 VAR_060576 disease phenotype-associated VAR_060576 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690] VAR_060577 commonName VAR_060577 VAR_060577 disease phenotype-associated VAR_060577 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690] VAR_060578 commonName VAR_060578 VAR_060578 disease phenotype-associated VAR_060578 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690] VAR_060579 commonName VAR_060579 VAR_060579 disease phenotype-associated VAR_060579 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690] VAR_060580 commonName VAR_060580 VAR_060580 disease phenotype-associated VAR_060580 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690] VAR_060581 commonName VAR_060581 VAR_060581 disease phenotype-associated VAR_060581 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690] VAR_060584 commonName VAR_060584 VAR_060584 disease not phenotype-associated VAR_060585 commonName VAR_060585 VAR_060585 disease not phenotype-associated VAR_060586 commonName VAR_060586 VAR_060586 disease not phenotype-associated VAR_060587 commonName VAR_060587 VAR_060587 disease not phenotype-associated VAR_060588 commonName VAR_060588 VAR_060588 disease phenotype-associated VAR_060588 phenoCommon Glutaric aciduria type 1 (GA1) [MIM:231670] VAR_060589 commonName VAR_060589 VAR_060589 disease not phenotype-associated VAR_060591 commonName VAR_060591 VAR_060591 disease not phenotype-associated VAR_060592 commonName VAR_060592 VAR_060592 disease not phenotype-associated VAR_060593 commonName VAR_060593 VAR_060593 disease not phenotype-associated VAR_060594 commonName VAR_060594 VAR_060594 disease not phenotype-associated VAR_060595 commonName VAR_060595 VAR_060595 disease not phenotype-associated VAR_060596 commonName VAR_060596 VAR_060596 disease not phenotype-associated VAR_060597 commonName VAR_060597 VAR_060597 disease not phenotype-associated VAR_060598 commonName VAR_060598 VAR_060598 disease not phenotype-associated VAR_060599 commonName VAR_060599 VAR_060599 disease not phenotype-associated VAR_060600 commonName VAR_060600 VAR_060600 disease not phenotype-associated VAR_060601 commonName VAR_060601 VAR_060601 disease not phenotype-associated VAR_060602 commonName VAR_060602 VAR_060602 disease not phenotype-associated VAR_060603 commonName VAR_060603 VAR_060603 disease not phenotype-associated VAR_060605 commonName VAR_060605 VAR_060605 disease not phenotype-associated VAR_060608 commonName VAR_060608 VAR_060608 disease not phenotype-associated VAR_060609 commonName VAR_060609 VAR_060609 disease not phenotype-associated VAR_060610 commonName VAR_060610 VAR_060610 disease not phenotype-associated VAR_060611 commonName VAR_060611 VAR_060611 disease not phenotype-associated VAR_060612 commonName VAR_060612 VAR_060612 disease not phenotype-associated VAR_060613 commonName VAR_060613 VAR_060613 disease not phenotype-associated VAR_060614 commonName VAR_060614 VAR_060614 disease not phenotype-associated VAR_060615 commonName VAR_060615 VAR_060615 disease not phenotype-associated VAR_060616 commonName VAR_060616 VAR_060616 disease not phenotype-associated VAR_060617 commonName VAR_060617 VAR_060617 disease not phenotype-associated VAR_060618 commonName VAR_060618 VAR_060618 disease not phenotype-associated VAR_060619 commonName VAR_060619 VAR_060619 disease not phenotype-associated VAR_060620 commonName VAR_060620 VAR_060620 disease not phenotype-associated VAR_060621 commonName VAR_060621 VAR_060621 disease not phenotype-associated VAR_060622 commonName VAR_060622 VAR_060622 disease not phenotype-associated VAR_060625 commonName VAR_060625 VAR_060625 disease not phenotype-associated VAR_060661 commonName VAR_060661 VAR_060661 disease not phenotype-associated VAR_060662 commonName VAR_060662 VAR_060662 disease not phenotype-associated VAR_060665 commonName VAR_060665 VAR_060665 disease not phenotype-associated VAR_060666 commonName VAR_060666 VAR_060666 disease not phenotype-associated VAR_060667 commonName VAR_060667 VAR_060667 disease not phenotype-associated VAR_060668 commonName VAR_060668 VAR_060668 disease not phenotype-associated VAR_060670 commonName VAR_060670 VAR_060670 disease not phenotype-associated VAR_060671 commonName VAR_060671 VAR_060671 disease not phenotype-associated VAR_060672 commonName VAR_060672 VAR_060672 disease phenotype-associated VAR_060672 phenoCommon Retinitis pigmentosa type 42 (RP42) [MIM:612943] VAR_060673 commonName VAR_060673 VAR_060673 disease phenotype-associated VAR_060673 phenoCommon Retinitis pigmentosa type 42 (RP42) [MIM:612943] VAR_060674 commonName VAR_060674 VAR_060674 disease phenotype-associated VAR_060674 phenoCommon Retinitis pigmentosa type 42 (RP42) [MIM:612943] VAR_060675 commonName VAR_060675 VAR_060678 commonName VAR_060678 VAR_060678 disease not phenotype-associated VAR_060679 commonName VAR_060679 VAR_060679 disease not phenotype-associated VAR_060680 commonName VAR_060680 VAR_060680 disease not phenotype-associated VAR_060681 commonName VAR_060681 VAR_060681 disease not phenotype-associated VAR_060682 commonName VAR_060682 VAR_060682 disease not phenotype-associated VAR_060683 commonName VAR_060683 VAR_060683 disease not phenotype-associated VAR_060684 commonName VAR_060684 VAR_060684 disease not phenotype-associated VAR_060685 commonName VAR_060685 VAR_060685 disease not phenotype-associated VAR_060686 commonName VAR_060686 VAR_060686 disease not phenotype-associated VAR_060687 commonName VAR_060687 VAR_060687 disease not phenotype-associated VAR_060688 commonName VAR_060688 VAR_060688 disease not phenotype-associated VAR_060689 commonName VAR_060689 VAR_060689 disease not phenotype-associated VAR_060690 commonName VAR_060690 VAR_060690 disease not phenotype-associated VAR_060691 commonName VAR_060691 VAR_060691 disease not phenotype-associated VAR_060692 commonName VAR_060692 VAR_060692 disease not phenotype-associated VAR_060693 commonName VAR_060693 VAR_060693 disease not phenotype-associated VAR_060694 commonName VAR_060694 VAR_060694 disease not phenotype-associated VAR_060695 commonName VAR_060695 VAR_060695 disease not phenotype-associated VAR_060696 commonName VAR_060696 VAR_060696 disease not phenotype-associated VAR_060699 commonName VAR_060699 VAR_060699 disease not phenotype-associated VAR_060700 commonName VAR_060700 VAR_060700 disease not phenotype-associated VAR_060701 commonName VAR_060701 VAR_060701 disease not phenotype-associated VAR_060702 commonName VAR_060702 VAR_060702 disease not phenotype-associated VAR_060703 commonName VAR_060703 VAR_060703 disease not phenotype-associated VAR_060704 commonName VAR_060704 VAR_060704 disease not phenotype-associated VAR_060705 commonName VAR_060705 VAR_060705 disease not phenotype-associated VAR_060706 commonName VAR_060706 VAR_060706 disease not phenotype-associated VAR_060707 commonName VAR_060707 VAR_060707 disease not phenotype-associated VAR_060708 commonName VAR_060708 VAR_060708 disease not phenotype-associated VAR_060709 commonName VAR_060709 VAR_060709 disease not phenotype-associated VAR_060711 commonName VAR_060711 VAR_060711 disease not phenotype-associated VAR_060712 commonName VAR_060712 VAR_060712 disease not phenotype-associated VAR_060713 commonName VAR_060713 VAR_060713 disease not phenotype-associated VAR_060714 commonName VAR_060714 VAR_060714 disease not phenotype-associated VAR_060715 commonName VAR_060715 VAR_060715 disease not phenotype-associated VAR_060716 commonName VAR_060716 VAR_060716 disease not phenotype-associated VAR_060718 commonName VAR_060718 VAR_060718 disease not phenotype-associated VAR_060719 commonName VAR_060719 VAR_060719 disease not phenotype-associated VAR_060720 commonName VAR_060720 VAR_060720 disease not phenotype-associated VAR_060721 commonName VAR_060721 VAR_060721 disease not phenotype-associated VAR_060722 commonName VAR_060722 VAR_060722 disease not phenotype-associated VAR_060723 commonName VAR_060723 VAR_060723 disease not phenotype-associated VAR_060724 commonName VAR_060724 VAR_060724 disease not phenotype-associated VAR_060725 commonName VAR_060725 VAR_060725 disease not phenotype-associated VAR_060726 commonName VAR_060726 VAR_060726 disease not phenotype-associated VAR_060727 commonName VAR_060727 VAR_060727 disease not phenotype-associated VAR_060728 commonName VAR_060728 VAR_060728 disease not phenotype-associated VAR_060729 commonName VAR_060729 VAR_060729 disease not phenotype-associated VAR_060730 commonName VAR_060730 VAR_060730 disease not phenotype-associated VAR_060731 commonName VAR_060731 VAR_060731 disease not phenotype-associated VAR_060732 commonName VAR_060732 VAR_060732 disease not phenotype-associated VAR_060733 commonName VAR_060733 VAR_060733 disease not phenotype-associated VAR_060734 commonName VAR_060734 VAR_060734 disease not phenotype-associated VAR_060735 commonName VAR_060735 VAR_060735 disease not phenotype-associated VAR_060736 commonName VAR_060736 VAR_060736 disease not phenotype-associated VAR_060737 commonName VAR_060737 VAR_060737 disease not phenotype-associated VAR_060738 commonName VAR_060738 VAR_060738 disease not phenotype-associated VAR_060784 commonName VAR_060784 VAR_060784 disease not phenotype-associated VAR_060785 commonName VAR_060785 VAR_060785 disease not phenotype-associated VAR_060786 commonName VAR_060786 VAR_060786 disease not phenotype-associated VAR_060787 commonName VAR_060787 VAR_060787 disease not phenotype-associated VAR_060788 commonName VAR_060788 VAR_060788 disease not phenotype-associated VAR_060789 commonName VAR_060789 VAR_060789 disease not phenotype-associated VAR_060790 commonName VAR_060790 VAR_060790 disease not phenotype-associated VAR_060791 commonName VAR_060791 VAR_060791 disease not phenotype-associated VAR_060793 commonName VAR_060793 VAR_060793 disease phenotype-associated VAR_060793 phenoCommon Bronchiectasis with or without elevated sweat chloride type 2 (BESC2) [MIM:613021] VAR_060794 commonName VAR_060794 VAR_060794 disease phenotype-associated VAR_060794 phenoCommon Bronchiectasis with or without elevated sweat chloride type 2 (BESC2) [MIM:613021] VAR_060795 commonName VAR_060795 VAR_060795 disease not phenotype-associated VAR_060796 commonName VAR_060796 VAR_060796 disease not phenotype-associated VAR_060798 commonName VAR_060798 VAR_060798 disease phenotype-associated VAR_060798 phenoCommon Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544] VAR_060799 commonName VAR_060799 VAR_060799 disease phenotype-associated VAR_060799 phenoCommon Palmoplantar keratoderma with deafness (PPKDFN) [MIM:148350] VAR_060800 commonName VAR_060800 VAR_060800 disease phenotype-associated VAR_060800 phenoCommon Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290] VAR_060802 commonName VAR_060802 VAR_060802 disease phenotype-associated VAR_060802 phenoCommon Cone dystrophy type 3 (COD3) [MIM:602093] VAR_060803 commonName VAR_060803 VAR_060803 disease phenotype-associated VAR_060803 phenoCommon Cone dystrophy type 3 (COD3) [MIM:602093] VAR_060804 commonName VAR_060804 VAR_060806 commonName VAR_060806 VAR_060806 disease phenotype-associated VAR_060806 phenoCommon Cone dystrophy type 3 (COD3) [MIM:602093] VAR_060807 commonName VAR_060807 VAR_060807 disease phenotype-associated VAR_060807 phenoCommon Cone dystrophy type 3 (COD3) [MIM:602093] VAR_060809 commonName VAR_060809 VAR_060809 disease phenotype-associated VAR_060809 phenoCommon Retinitis pigmentosa type 20 (RP20) [MIM:613794] VAR_060810 commonName VAR_060810 VAR_060811 commonName VAR_060811 VAR_060811 disease phenotype-associated VAR_060811 phenoCommon Retinitis pigmentosa type 20 (RP20) [MIM:613794] VAR_060812 commonName VAR_060812 VAR_060812 disease phenotype-associated VAR_060812 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100] VAR_060812 phenoCommon Retinitis pigmentosa type 20 (RP20) [MIM:613794] VAR_060813 commonName VAR_060813 VAR_060813 disease phenotype-associated VAR_060813 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100] VAR_060814 commonName VAR_060814 VAR_060814 disease phenotype-associated VAR_060814 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100] VAR_060814 phenoCommon Retinitis pigmentosa type 20 (RP20) [MIM:613794] VAR_060815 commonName VAR_060815 VAR_060815 disease phenotype-associated VAR_060815 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100] VAR_060816 commonName VAR_060816 VAR_060816 disease phenotype-associated VAR_060816 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100] VAR_060816 phenoCommon Retinitis pigmentosa type 20 (RP20) [MIM:613794] VAR_060817 commonName VAR_060817 VAR_060817 disease phenotype-associated VAR_060817 phenoCommon Retinitis pigmentosa type 20 (RP20) [MIM:613794] VAR_060818 commonName VAR_060818 VAR_060818 disease phenotype-associated VAR_060818 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100] VAR_060819 commonName VAR_060819 VAR_060819 disease phenotype-associated VAR_060819 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100] VAR_060820 commonName VAR_060820 VAR_060820 disease phenotype-associated VAR_060820 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100] VAR_060821 commonName VAR_060821 VAR_060821 disease phenotype-associated VAR_060821 phenoCommon Retinitis pigmentosa type 20 (RP20) [MIM:613794] VAR_060822 commonName VAR_060822 VAR_060822 disease phenotype-associated VAR_060822 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100] VAR_060823 commonName VAR_060823 VAR_060823 disease phenotype-associated VAR_060823 phenoCommon Retinitis pigmentosa type 20 (RP20) [MIM:613794] VAR_060824 commonName VAR_060824 VAR_060824 disease phenotype-associated VAR_060824 phenoCommon Retinitis pigmentosa type 20 (RP20) [MIM:613794] VAR_060825 commonName VAR_060825 VAR_060825 disease phenotype-associated VAR_060825 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060826 commonName VAR_060826 VAR_060826 disease phenotype-associated VAR_060826 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060827 commonName VAR_060827 VAR_060827 disease phenotype-associated VAR_060827 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060828 commonName VAR_060828 VAR_060828 disease phenotype-associated VAR_060828 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060829 commonName VAR_060829 VAR_060829 disease phenotype-associated VAR_060829 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060830 commonName VAR_060830 VAR_060830 disease phenotype-associated VAR_060830 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060831 commonName VAR_060831 VAR_060831 disease phenotype-associated VAR_060831 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060832 commonName VAR_060832 VAR_060832 disease phenotype-associated VAR_060832 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060834 commonName VAR_060834 VAR_060834 disease phenotype-associated VAR_060834 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060836 commonName VAR_060836 VAR_060836 disease phenotype-associated VAR_060836 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060837 commonName VAR_060837 VAR_060837 disease phenotype-associated VAR_060837 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060838 commonName VAR_060838 VAR_060838 disease phenotype-associated VAR_060838 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060839 commonName VAR_060839 VAR_060839 disease phenotype-associated VAR_060839 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060841 commonName VAR_060841 VAR_060841 disease phenotype-associated VAR_060841 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060842 commonName VAR_060842 VAR_060842 disease phenotype-associated VAR_060842 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060843 commonName VAR_060843 VAR_060843 disease phenotype-associated VAR_060843 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060845 commonName VAR_060845 VAR_060845 disease phenotype-associated VAR_060845 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060846 commonName VAR_060846 VAR_060846 disease phenotype-associated VAR_060846 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060847 commonName VAR_060847 VAR_060847 disease phenotype-associated VAR_060847 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060848 commonName VAR_060848 VAR_060848 disease phenotype-associated VAR_060848 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060849 commonName VAR_060849 VAR_060849 disease not phenotype-associated VAR_060851 commonName VAR_060851 VAR_060851 disease phenotype-associated VAR_060851 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060852 commonName VAR_060852 VAR_060852 disease phenotype-associated VAR_060852 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060853 commonName VAR_060853 VAR_060853 disease phenotype-associated VAR_060853 phenoCommon Dominant optic atrophy plus syndrome (DOA+) [MIM:125250] VAR_060854 commonName VAR_060854 VAR_060854 disease phenotype-associated VAR_060854 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060855 commonName VAR_060855 VAR_060855 disease phenotype-associated VAR_060855 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060856 commonName VAR_060856 VAR_060856 disease phenotype-associated VAR_060856 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060857 commonName VAR_060857 VAR_060857 disease phenotype-associated VAR_060857 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060859 commonName VAR_060859 VAR_060859 disease phenotype-associated VAR_060859 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060860 commonName VAR_060860 VAR_060860 disease phenotype-associated VAR_060860 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060861 commonName VAR_060861 VAR_060861 disease phenotype-associated VAR_060861 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060862 commonName VAR_060862 VAR_060862 disease phenotype-associated VAR_060862 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060863 commonName VAR_060863 VAR_060863 disease phenotype-associated VAR_060863 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060864 commonName VAR_060864 VAR_060864 disease phenotype-associated VAR_060864 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060865 commonName VAR_060865 VAR_060865 disease phenotype-associated VAR_060865 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060866 commonName VAR_060866 VAR_060866 disease phenotype-associated VAR_060866 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060867 commonName VAR_060867 VAR_060867 disease not phenotype-associated VAR_060868 commonName VAR_060868 VAR_060868 disease phenotype-associated VAR_060868 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060869 commonName VAR_060869 VAR_060869 disease phenotype-associated VAR_060869 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_060934 commonName VAR_060934 VAR_060934 disease phenotype-associated VAR_060934 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] VAR_060935 commonName VAR_060935 VAR_060935 disease phenotype-associated VAR_060935 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] VAR_060936 commonName VAR_060936 VAR_060936 disease phenotype-associated VAR_060936 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] VAR_060937 commonName VAR_060937 VAR_060937 disease phenotype-associated VAR_060937 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] VAR_060938 commonName VAR_060938 VAR_060938 disease phenotype-associated VAR_060938 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] VAR_060939 commonName VAR_060939 VAR_060939 disease phenotype-associated VAR_060939 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] VAR_060940 commonName VAR_060940 VAR_060940 disease phenotype-associated VAR_060940 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] VAR_060942 commonName VAR_060942 VAR_060942 disease phenotype-associated VAR_060942 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] VAR_060943 commonName VAR_060943 VAR_060943 disease phenotype-associated VAR_060943 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] VAR_060944 commonName VAR_060944 VAR_060944 disease phenotype-associated VAR_060944 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] VAR_060945 commonName VAR_060945 VAR_060945 disease phenotype-associated VAR_060945 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] VAR_060946 commonName VAR_060946 VAR_060946 disease phenotype-associated VAR_060946 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] VAR_060947 commonName VAR_060947 VAR_060947 disease phenotype-associated VAR_060947 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] VAR_060948 commonName VAR_060948 VAR_060948 disease phenotype-associated VAR_060948 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] VAR_060949 commonName VAR_060949 VAR_060949 disease phenotype-associated VAR_060949 phenoCommon Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200] VAR_060950 commonName VAR_060950 VAR_060950 disease not phenotype-associated VAR_060951 commonName VAR_060951 VAR_060951 disease not phenotype-associated VAR_060952 commonName VAR_060952 VAR_060952 disease not phenotype-associated VAR_060953 commonName VAR_060953 VAR_060953 disease not phenotype-associated VAR_060954 commonName VAR_060954 VAR_060954 disease not phenotype-associated VAR_060955 commonName VAR_060955 VAR_060955 disease not phenotype-associated VAR_060956 commonName VAR_060956 VAR_060956 disease not phenotype-associated VAR_060957 commonName VAR_060957 VAR_060957 disease not phenotype-associated VAR_060958 commonName VAR_060958 VAR_060958 disease not phenotype-associated VAR_060959 commonName VAR_060959 VAR_060959 disease not phenotype-associated VAR_060960 commonName VAR_060960 VAR_060960 disease not phenotype-associated VAR_060961 commonName VAR_060961 VAR_060961 disease not phenotype-associated VAR_060962 commonName VAR_060962 VAR_060962 disease not phenotype-associated VAR_060963 commonName VAR_060963 VAR_060963 disease not phenotype-associated VAR_060964 commonName VAR_060964 VAR_060964 disease not phenotype-associated VAR_060965 commonName VAR_060965 VAR_060965 disease not phenotype-associated VAR_060966 commonName VAR_060966 VAR_060966 disease not phenotype-associated VAR_060967 commonName VAR_060967 VAR_060967 disease not phenotype-associated VAR_060968 commonName VAR_060968 VAR_060968 disease not phenotype-associated VAR_060969 commonName VAR_060969 VAR_060969 disease not phenotype-associated VAR_060970 commonName VAR_060970 VAR_060970 disease not phenotype-associated VAR_060971 commonName VAR_060971 VAR_060971 disease not phenotype-associated VAR_060972 commonName VAR_060972 VAR_060972 disease not phenotype-associated VAR_060973 commonName VAR_060973 VAR_060973 disease not phenotype-associated VAR_060974 commonName VAR_060974 VAR_060974 disease not phenotype-associated VAR_060975 commonName VAR_060975 VAR_060975 disease not phenotype-associated VAR_060976 commonName VAR_060976 VAR_060976 disease not phenotype-associated VAR_060977 commonName VAR_060977 VAR_060977 disease not phenotype-associated VAR_060978 commonName VAR_060978 VAR_060978 disease not phenotype-associated VAR_060979 commonName VAR_060979 VAR_060979 disease not phenotype-associated VAR_060980 commonName VAR_060980 VAR_060980 disease not phenotype-associated VAR_060981 commonName VAR_060981 VAR_060981 disease not phenotype-associated VAR_060982 commonName VAR_060982 VAR_060982 disease not phenotype-associated VAR_060983 commonName VAR_060983 VAR_060983 disease not phenotype-associated VAR_060984 commonName VAR_060984 VAR_060984 disease not phenotype-associated VAR_060985 commonName VAR_060985 VAR_060985 disease not phenotype-associated VAR_060986 commonName VAR_060986 VAR_060986 disease not phenotype-associated VAR_060988 commonName VAR_060988 VAR_060988 disease not phenotype-associated VAR_060989 commonName VAR_060989 VAR_060989 disease not phenotype-associated VAR_060990 commonName VAR_060990 VAR_060990 disease not phenotype-associated VAR_060991 commonName VAR_060991 VAR_060991 disease not phenotype-associated VAR_060993 commonName VAR_060993 VAR_060993 disease not phenotype-associated VAR_060994 commonName VAR_060994 VAR_060994 disease not phenotype-associated VAR_060996 commonName VAR_060996 VAR_060996 disease not phenotype-associated VAR_060997 commonName VAR_060997 VAR_060997 disease not phenotype-associated VAR_060998 commonName VAR_060998 VAR_060998 disease not phenotype-associated VAR_060999 commonName VAR_060999 VAR_060999 disease not phenotype-associated VAR_061000 commonName VAR_061000 VAR_061000 disease not phenotype-associated VAR_061001 commonName VAR_061001 VAR_061001 disease not phenotype-associated VAR_061002 commonName VAR_061002 VAR_061002 disease not phenotype-associated VAR_061003 commonName VAR_061003 VAR_061003 disease not phenotype-associated VAR_061005 commonName VAR_061005 VAR_061005 disease not phenotype-associated VAR_061006 commonName VAR_061006 VAR_061006 disease not phenotype-associated VAR_061007 commonName VAR_061007 VAR_061007 disease not phenotype-associated VAR_061008 commonName VAR_061008 VAR_061008 disease not phenotype-associated VAR_061009 commonName VAR_061009 VAR_061009 disease not phenotype-associated VAR_061010 commonName VAR_061010 VAR_061010 disease not phenotype-associated VAR_061011 commonName VAR_061011 VAR_061011 disease not phenotype-associated VAR_061012 commonName VAR_061012 VAR_061012 disease not phenotype-associated VAR_061013 commonName VAR_061013 VAR_061013 disease not phenotype-associated VAR_061014 commonName VAR_061014 VAR_061014 disease not phenotype-associated VAR_061015 commonName VAR_061015 VAR_061015 disease not phenotype-associated VAR_061016 commonName VAR_061016 VAR_061016 disease not phenotype-associated VAR_061017 commonName VAR_061017 VAR_061017 disease not phenotype-associated VAR_061018 commonName VAR_061018 VAR_061018 disease not phenotype-associated VAR_061019 commonName VAR_061019 VAR_061019 disease not phenotype-associated VAR_061020 commonName VAR_061020 VAR_061020 disease not phenotype-associated VAR_061021 commonName VAR_061021 VAR_061021 disease not phenotype-associated VAR_061022 commonName VAR_061022 VAR_061022 disease not phenotype-associated VAR_061023 commonName VAR_061023 VAR_061023 disease not phenotype-associated VAR_061024 commonName VAR_061024 VAR_061024 disease not phenotype-associated VAR_061025 commonName VAR_061025 VAR_061025 disease not phenotype-associated VAR_061026 commonName VAR_061026 VAR_061026 disease not phenotype-associated VAR_061027 commonName VAR_061027 VAR_061027 disease not phenotype-associated VAR_061028 commonName VAR_061028 VAR_061028 disease not phenotype-associated VAR_061029 commonName VAR_061029 VAR_061029 disease not phenotype-associated VAR_061030 commonName VAR_061030 VAR_061030 disease not phenotype-associated VAR_061031 commonName VAR_061031 VAR_061031 disease not phenotype-associated VAR_061032 commonName VAR_061032 VAR_061032 disease not phenotype-associated VAR_061034 commonName VAR_061034 VAR_061034 disease not phenotype-associated VAR_061035 commonName VAR_061035 VAR_061035 disease not phenotype-associated VAR_061036 commonName VAR_061036 VAR_061036 disease not phenotype-associated VAR_061037 commonName VAR_061037 VAR_061037 disease not phenotype-associated VAR_061038 commonName VAR_061038 VAR_061038 disease not phenotype-associated VAR_061039 commonName VAR_061039 VAR_061039 disease not phenotype-associated VAR_061040 commonName VAR_061040 VAR_061040 disease not phenotype-associated VAR_061042 commonName VAR_061042 VAR_061042 disease not phenotype-associated VAR_061043 commonName VAR_061043 VAR_061043 disease not phenotype-associated VAR_061044 commonName VAR_061044 VAR_061044 disease not phenotype-associated VAR_061045 commonName VAR_061045 VAR_061045 disease not phenotype-associated VAR_061046 commonName VAR_061046 VAR_061046 disease not phenotype-associated VAR_061047 commonName VAR_061047 VAR_061047 disease not phenotype-associated VAR_061048 commonName VAR_061048 VAR_061048 disease not phenotype-associated VAR_061049 commonName VAR_061049 VAR_061049 disease not phenotype-associated VAR_061050 commonName VAR_061050 VAR_061050 disease not phenotype-associated VAR_061051 commonName VAR_061051 VAR_061051 disease not phenotype-associated VAR_061052 commonName VAR_061052 VAR_061052 disease not phenotype-associated VAR_061053 commonName VAR_061053 VAR_061053 disease not phenotype-associated VAR_061054 commonName VAR_061054 VAR_061054 disease not phenotype-associated VAR_061055 commonName VAR_061055 VAR_061055 disease not phenotype-associated VAR_061056 commonName VAR_061056 VAR_061056 disease not phenotype-associated VAR_061057 commonName VAR_061057 VAR_061057 disease not phenotype-associated VAR_061058 commonName VAR_061058 VAR_061058 disease not phenotype-associated VAR_061059 commonName VAR_061059 VAR_061059 disease not phenotype-associated VAR_061060 commonName VAR_061060 VAR_061060 disease not phenotype-associated VAR_061061 commonName VAR_061061 VAR_061061 disease not phenotype-associated VAR_061062 commonName VAR_061062 VAR_061062 disease not phenotype-associated VAR_061063 commonName VAR_061063 VAR_061063 disease not phenotype-associated VAR_061064 commonName VAR_061064 VAR_061064 disease not phenotype-associated VAR_061065 commonName VAR_061065 VAR_061065 disease not phenotype-associated VAR_061066 commonName VAR_061066 VAR_061066 disease not phenotype-associated VAR_061067 commonName VAR_061067 VAR_061067 disease not phenotype-associated VAR_061068 commonName VAR_061068 VAR_061068 disease not phenotype-associated VAR_061069 commonName VAR_061069 VAR_061069 disease not phenotype-associated VAR_061070 commonName VAR_061070 VAR_061070 disease not phenotype-associated VAR_061071 commonName VAR_061071 VAR_061071 disease not phenotype-associated VAR_061072 commonName VAR_061072 VAR_061072 disease not phenotype-associated VAR_061073 commonName VAR_061073 VAR_061073 disease not phenotype-associated VAR_061074 commonName VAR_061074 VAR_061074 disease not phenotype-associated VAR_061075 commonName VAR_061075 VAR_061075 disease not phenotype-associated VAR_061076 commonName VAR_061076 VAR_061076 disease not phenotype-associated VAR_061077 commonName VAR_061077 VAR_061077 disease not phenotype-associated VAR_061078 commonName VAR_061078 VAR_061078 disease not phenotype-associated VAR_061079 commonName VAR_061079 VAR_061079 disease not phenotype-associated VAR_061081 commonName VAR_061081 VAR_061081 disease not phenotype-associated VAR_061082 commonName VAR_061082 VAR_061082 disease not phenotype-associated VAR_061084 commonName VAR_061084 VAR_061084 disease not phenotype-associated VAR_061085 commonName VAR_061085 VAR_061085 disease not phenotype-associated VAR_061086 commonName VAR_061086 VAR_061086 disease not phenotype-associated VAR_061087 commonName VAR_061087 VAR_061087 disease not phenotype-associated VAR_061088 commonName VAR_061088 VAR_061088 disease not phenotype-associated VAR_061089 commonName VAR_061089 VAR_061089 disease not phenotype-associated VAR_061090 commonName VAR_061090 VAR_061090 disease not phenotype-associated VAR_061091 commonName VAR_061091 VAR_061091 disease not phenotype-associated VAR_061092 commonName VAR_061092 VAR_061092 disease not phenotype-associated VAR_061093 commonName VAR_061093 VAR_061093 disease not phenotype-associated VAR_061094 commonName VAR_061094 VAR_061094 disease not phenotype-associated VAR_061095 commonName VAR_061095 VAR_061095 disease not phenotype-associated VAR_061096 commonName VAR_061096 VAR_061096 disease not phenotype-associated VAR_061097 commonName VAR_061097 VAR_061097 disease not phenotype-associated VAR_061098 commonName VAR_061098 VAR_061098 disease not phenotype-associated VAR_061099 commonName VAR_061099 VAR_061099 disease not phenotype-associated VAR_061100 commonName VAR_061100 VAR_061100 disease not phenotype-associated VAR_061101 commonName VAR_061101 VAR_061101 disease not phenotype-associated VAR_061102 commonName VAR_061102 VAR_061102 disease not phenotype-associated VAR_061103 commonName VAR_061103 VAR_061103 disease not phenotype-associated VAR_061104 commonName VAR_061104 VAR_061104 disease not phenotype-associated VAR_061105 commonName VAR_061105 VAR_061105 disease not phenotype-associated VAR_061106 commonName VAR_061106 VAR_061106 disease not phenotype-associated VAR_061107 commonName VAR_061107 VAR_061107 disease not phenotype-associated VAR_061108 commonName VAR_061108 VAR_061108 disease not phenotype-associated VAR_061109 commonName VAR_061109 VAR_061109 disease not phenotype-associated VAR_061110 commonName VAR_061110 VAR_061110 disease not phenotype-associated VAR_061111 commonName VAR_061111 VAR_061111 disease not phenotype-associated VAR_061112 commonName VAR_061112 VAR_061112 disease not phenotype-associated VAR_061113 commonName VAR_061113 VAR_061113 disease not phenotype-associated VAR_061114 commonName VAR_061114 VAR_061114 disease not phenotype-associated VAR_061116 commonName VAR_061116 VAR_061116 disease not phenotype-associated VAR_061117 commonName VAR_061117 VAR_061117 disease not phenotype-associated VAR_061118 commonName VAR_061118 VAR_061118 disease not phenotype-associated VAR_061120 commonName VAR_061120 VAR_061120 disease not phenotype-associated VAR_061121 commonName VAR_061121 VAR_061121 disease not phenotype-associated VAR_061122 commonName VAR_061122 VAR_061122 disease not phenotype-associated VAR_061123 commonName VAR_061123 VAR_061123 disease not phenotype-associated VAR_061124 commonName VAR_061124 VAR_061124 disease not phenotype-associated VAR_061125 commonName VAR_061125 VAR_061125 disease not phenotype-associated VAR_061126 commonName VAR_061126 VAR_061126 disease not phenotype-associated VAR_061127 commonName VAR_061127 VAR_061127 disease not phenotype-associated VAR_061128 commonName VAR_061128 VAR_061128 disease not phenotype-associated VAR_061129 commonName VAR_061129 VAR_061129 disease not phenotype-associated VAR_061130 commonName VAR_061130 VAR_061130 disease not phenotype-associated VAR_061131 commonName VAR_061131 VAR_061131 disease not phenotype-associated VAR_061132 commonName VAR_061132 VAR_061132 disease not phenotype-associated VAR_061133 commonName VAR_061133 VAR_061133 disease not phenotype-associated VAR_061134 commonName VAR_061134 VAR_061134 disease not phenotype-associated VAR_061135 commonName VAR_061135 VAR_061135 disease not phenotype-associated VAR_061136 commonName VAR_061136 VAR_061136 disease not phenotype-associated VAR_061137 commonName VAR_061137 VAR_061137 disease not phenotype-associated VAR_061138 commonName VAR_061138 VAR_061138 disease not phenotype-associated VAR_061139 commonName VAR_061139 VAR_061139 disease not phenotype-associated VAR_061140 commonName VAR_061140 VAR_061140 disease not phenotype-associated VAR_061141 commonName VAR_061141 VAR_061141 disease not phenotype-associated VAR_061142 commonName VAR_061142 VAR_061142 disease not phenotype-associated VAR_061143 commonName VAR_061143 VAR_061143 disease not phenotype-associated VAR_061144 commonName VAR_061144 VAR_061144 disease not phenotype-associated VAR_061145 commonName VAR_061145 VAR_061145 disease not phenotype-associated VAR_061146 commonName VAR_061146 VAR_061146 disease not phenotype-associated VAR_061147 commonName VAR_061147 VAR_061147 disease not phenotype-associated VAR_061149 commonName VAR_061149 VAR_061149 disease not phenotype-associated VAR_061150 commonName VAR_061150 VAR_061150 disease not phenotype-associated VAR_061151 commonName VAR_061151 VAR_061151 disease not phenotype-associated VAR_061152 commonName VAR_061152 VAR_061152 disease not phenotype-associated VAR_061153 commonName VAR_061153 VAR_061153 disease not phenotype-associated VAR_061154 commonName VAR_061154 VAR_061154 disease not phenotype-associated VAR_061155 commonName VAR_061155 VAR_061155 disease not phenotype-associated VAR_061156 commonName VAR_061156 VAR_061156 disease not phenotype-associated VAR_061157 commonName VAR_061157 VAR_061157 disease not phenotype-associated VAR_061159 commonName VAR_061159 VAR_061159 disease not phenotype-associated VAR_061160 commonName VAR_061160 VAR_061160 disease not phenotype-associated VAR_061162 commonName VAR_061162 VAR_061162 disease not phenotype-associated VAR_061163 commonName VAR_061163 VAR_061163 disease not phenotype-associated VAR_061164 commonName VAR_061164 VAR_061164 disease not phenotype-associated VAR_061165 commonName VAR_061165 VAR_061165 disease not phenotype-associated VAR_061167 commonName VAR_061167 VAR_061167 disease not phenotype-associated VAR_061168 commonName VAR_061168 VAR_061168 disease not phenotype-associated VAR_061169 commonName VAR_061169 VAR_061169 disease not phenotype-associated VAR_061170 commonName VAR_061170 VAR_061170 disease not phenotype-associated VAR_061171 commonName VAR_061171 VAR_061171 disease not phenotype-associated VAR_061172 commonName VAR_061172 VAR_061172 disease not phenotype-associated VAR_061174 commonName VAR_061174 VAR_061174 disease not phenotype-associated VAR_061175 commonName VAR_061175 VAR_061175 disease not phenotype-associated VAR_061176 commonName VAR_061176 VAR_061176 disease not phenotype-associated VAR_061177 commonName VAR_061177 VAR_061177 disease not phenotype-associated VAR_061178 commonName VAR_061178 VAR_061178 disease not phenotype-associated VAR_061179 commonName VAR_061179 VAR_061179 disease not phenotype-associated VAR_061180 commonName VAR_061180 VAR_061180 disease not phenotype-associated VAR_061181 commonName VAR_061181 VAR_061181 disease not phenotype-associated VAR_061182 commonName VAR_061182 VAR_061182 disease not phenotype-associated VAR_061183 commonName VAR_061183 VAR_061183 disease not phenotype-associated VAR_061184 commonName VAR_061184 VAR_061184 disease not phenotype-associated VAR_061185 commonName VAR_061185 VAR_061185 disease not phenotype-associated VAR_061186 commonName VAR_061186 VAR_061186 disease not phenotype-associated VAR_061187 commonName VAR_061187 VAR_061187 disease not phenotype-associated VAR_061188 commonName VAR_061188 VAR_061188 disease not phenotype-associated VAR_061190 commonName VAR_061190 VAR_061190 disease not phenotype-associated VAR_061191 commonName VAR_061191 VAR_061191 disease not phenotype-associated VAR_061192 commonName VAR_061192 VAR_061192 disease not phenotype-associated VAR_061194 commonName VAR_061194 VAR_061194 disease not phenotype-associated VAR_061195 commonName VAR_061195 VAR_061195 disease not phenotype-associated VAR_061196 commonName VAR_061196 VAR_061196 disease not phenotype-associated VAR_061197 commonName VAR_061197 VAR_061197 disease not phenotype-associated VAR_061198 commonName VAR_061198 VAR_061198 disease not phenotype-associated VAR_061199 commonName VAR_061199 VAR_061199 disease not phenotype-associated VAR_061200 commonName VAR_061200 VAR_061200 disease not phenotype-associated VAR_061201 commonName VAR_061201 VAR_061201 disease not phenotype-associated VAR_061202 commonName VAR_061202 VAR_061202 disease not phenotype-associated VAR_061203 commonName VAR_061203 VAR_061203 disease not phenotype-associated VAR_061204 commonName VAR_061204 VAR_061204 disease not phenotype-associated VAR_061205 commonName VAR_061205 VAR_061205 disease not phenotype-associated VAR_061207 commonName VAR_061207 VAR_061207 disease not phenotype-associated VAR_061209 commonName VAR_061209 VAR_061209 disease not phenotype-associated VAR_061210 commonName VAR_061210 VAR_061210 disease not phenotype-associated VAR_061211 commonName VAR_061211 VAR_061211 disease not phenotype-associated VAR_061212 commonName VAR_061212 VAR_061212 disease not phenotype-associated VAR_061213 commonName VAR_061213 VAR_061213 disease not phenotype-associated VAR_061214 commonName VAR_061214 VAR_061214 disease not phenotype-associated VAR_061215 commonName VAR_061215 VAR_061215 disease not phenotype-associated VAR_061216 commonName VAR_061216 VAR_061216 disease not phenotype-associated VAR_061217 commonName VAR_061217 VAR_061217 disease not phenotype-associated VAR_061218 commonName VAR_061218 VAR_061218 disease not phenotype-associated VAR_061219 commonName VAR_061219 VAR_061219 disease not phenotype-associated VAR_061220 commonName VAR_061220 VAR_061220 disease not phenotype-associated VAR_061221 commonName VAR_061221 VAR_061221 disease not phenotype-associated VAR_061222 commonName VAR_061222 VAR_061222 disease not phenotype-associated VAR_061223 commonName VAR_061223 VAR_061223 disease not phenotype-associated VAR_061224 commonName VAR_061224 VAR_061224 disease not phenotype-associated VAR_061225 commonName VAR_061225 VAR_061225 disease not phenotype-associated VAR_061226 commonName VAR_061226 VAR_061226 disease not phenotype-associated VAR_061227 commonName VAR_061227 VAR_061227 disease not phenotype-associated VAR_061228 commonName VAR_061228 VAR_061228 disease not phenotype-associated VAR_061229 commonName VAR_061229 VAR_061229 disease not phenotype-associated VAR_061230 commonName VAR_061230 VAR_061230 disease not phenotype-associated VAR_061231 commonName VAR_061231 VAR_061231 disease not phenotype-associated VAR_061232 commonName VAR_061232 VAR_061232 disease not phenotype-associated VAR_061233 commonName VAR_061233 VAR_061233 disease not phenotype-associated VAR_061234 commonName VAR_061234 VAR_061234 disease not phenotype-associated VAR_061235 commonName VAR_061235 VAR_061235 disease not phenotype-associated VAR_061236 commonName VAR_061236 VAR_061236 disease not phenotype-associated VAR_061238 commonName VAR_061238 VAR_061238 disease not phenotype-associated VAR_061239 commonName VAR_061239 VAR_061239 disease not phenotype-associated VAR_061240 commonName VAR_061240 VAR_061240 disease not phenotype-associated VAR_061241 commonName VAR_061241 VAR_061241 disease not phenotype-associated VAR_061242 commonName VAR_061242 VAR_061242 disease not phenotype-associated VAR_061243 commonName VAR_061243 VAR_061243 disease not phenotype-associated VAR_061244 commonName VAR_061244 VAR_061244 disease not phenotype-associated VAR_061245 commonName VAR_061245 VAR_061245 disease not phenotype-associated VAR_061246 commonName VAR_061246 VAR_061246 disease not phenotype-associated VAR_061247 commonName VAR_061247 VAR_061247 disease not phenotype-associated VAR_061248 commonName VAR_061248 VAR_061248 disease not phenotype-associated VAR_061249 commonName VAR_061249 VAR_061249 disease not phenotype-associated VAR_061250 commonName VAR_061250 VAR_061250 disease not phenotype-associated VAR_061253 commonName VAR_061253 VAR_061253 disease not phenotype-associated VAR_061254 commonName VAR_061254 VAR_061254 disease not phenotype-associated VAR_061255 commonName VAR_061255 VAR_061255 disease not phenotype-associated VAR_061256 commonName VAR_061256 VAR_061256 disease not phenotype-associated VAR_061257 commonName VAR_061257 VAR_061257 disease not phenotype-associated VAR_061258 commonName VAR_061258 VAR_061258 disease not phenotype-associated VAR_061259 commonName VAR_061259 VAR_061259 disease not phenotype-associated VAR_061260 commonName VAR_061260 VAR_061260 disease not phenotype-associated VAR_061261 commonName VAR_061261 VAR_061261 disease not phenotype-associated VAR_061262 commonName VAR_061262 VAR_061262 disease not phenotype-associated VAR_061263 commonName VAR_061263 VAR_061263 disease not phenotype-associated VAR_061264 commonName VAR_061264 VAR_061264 disease not phenotype-associated VAR_061265 commonName VAR_061265 VAR_061265 disease not phenotype-associated VAR_061266 commonName VAR_061266 VAR_061266 disease not phenotype-associated VAR_061267 commonName VAR_061267 VAR_061267 disease not phenotype-associated VAR_061269 commonName VAR_061269 VAR_061269 disease not phenotype-associated VAR_061270 commonName VAR_061270 VAR_061270 disease not phenotype-associated VAR_061271 commonName VAR_061271 VAR_061271 disease not phenotype-associated VAR_061273 commonName VAR_061273 VAR_061273 disease not phenotype-associated VAR_061275 commonName VAR_061275 VAR_061275 disease not phenotype-associated VAR_061276 commonName VAR_061276 VAR_061276 disease not phenotype-associated VAR_061277 commonName VAR_061277 VAR_061277 disease not phenotype-associated VAR_061278 commonName VAR_061278 VAR_061278 disease not phenotype-associated VAR_061279 commonName VAR_061279 VAR_061279 disease not phenotype-associated VAR_061280 commonName VAR_061280 VAR_061280 disease not phenotype-associated VAR_061281 commonName VAR_061281 VAR_061281 disease not phenotype-associated VAR_061282 commonName VAR_061282 VAR_061282 disease not phenotype-associated VAR_061283 commonName VAR_061283 VAR_061283 disease not phenotype-associated VAR_061284 commonName VAR_061284 VAR_061284 disease not phenotype-associated VAR_061285 commonName VAR_061285 VAR_061285 disease not phenotype-associated VAR_061286 commonName VAR_061286 VAR_061286 disease not phenotype-associated VAR_061287 commonName VAR_061287 VAR_061287 disease not phenotype-associated VAR_061288 commonName VAR_061288 VAR_061288 disease not phenotype-associated VAR_061289 commonName VAR_061289 VAR_061289 disease not phenotype-associated VAR_061290 commonName VAR_061290 VAR_061290 disease not phenotype-associated VAR_061291 commonName VAR_061291 VAR_061291 disease not phenotype-associated VAR_061292 commonName VAR_061292 VAR_061292 disease not phenotype-associated VAR_061293 commonName VAR_061293 VAR_061293 disease not phenotype-associated VAR_061294 commonName VAR_061294 VAR_061294 disease not phenotype-associated VAR_061296 commonName VAR_061296 VAR_061296 disease not phenotype-associated VAR_061297 commonName VAR_061297 VAR_061297 disease not phenotype-associated VAR_061299 commonName VAR_061299 VAR_061299 disease not phenotype-associated VAR_061300 commonName VAR_061300 VAR_061300 disease not phenotype-associated VAR_061301 commonName VAR_061301 VAR_061301 disease not phenotype-associated VAR_061302 commonName VAR_061302 VAR_061302 disease not phenotype-associated VAR_061303 commonName VAR_061303 VAR_061303 disease not phenotype-associated VAR_061304 commonName VAR_061304 VAR_061304 disease not phenotype-associated VAR_061305 commonName VAR_061305 VAR_061305 disease not phenotype-associated VAR_061306 commonName VAR_061306 VAR_061306 disease not phenotype-associated VAR_061309 commonName VAR_061309 VAR_061309 disease not phenotype-associated VAR_061310 commonName VAR_061310 VAR_061310 disease not phenotype-associated VAR_061311 commonName VAR_061311 VAR_061311 disease not phenotype-associated VAR_061312 commonName VAR_061312 VAR_061312 disease not phenotype-associated VAR_061313 commonName VAR_061313 VAR_061313 disease not phenotype-associated VAR_061314 commonName VAR_061314 VAR_061314 disease not phenotype-associated VAR_061315 commonName VAR_061315 VAR_061315 disease not phenotype-associated VAR_061316 commonName VAR_061316 VAR_061316 disease not phenotype-associated VAR_061317 commonName VAR_061317 VAR_061317 disease not phenotype-associated VAR_061318 commonName VAR_061318 VAR_061318 disease not phenotype-associated VAR_061319 commonName VAR_061319 VAR_061319 disease not phenotype-associated VAR_061321 commonName VAR_061321 VAR_061321 disease not phenotype-associated VAR_061322 commonName VAR_061322 VAR_061322 disease not phenotype-associated VAR_061323 commonName VAR_061323 VAR_061323 disease not phenotype-associated VAR_061324 commonName VAR_061324 VAR_061324 disease not phenotype-associated VAR_061325 commonName VAR_061325 VAR_061325 disease not phenotype-associated VAR_061326 commonName VAR_061326 VAR_061326 disease not phenotype-associated VAR_061328 commonName VAR_061328 VAR_061328 disease not phenotype-associated VAR_061329 commonName VAR_061329 VAR_061329 disease not phenotype-associated VAR_061330 commonName VAR_061330 VAR_061330 disease not phenotype-associated VAR_061331 commonName VAR_061331 VAR_061331 disease not phenotype-associated VAR_061335 commonName VAR_061335 VAR_061335 disease not phenotype-associated VAR_061336 commonName VAR_061336 VAR_061336 disease not phenotype-associated VAR_061337 commonName VAR_061337 VAR_061337 disease not phenotype-associated VAR_061338 commonName VAR_061338 VAR_061338 disease not phenotype-associated VAR_061340 commonName VAR_061340 VAR_061340 disease not phenotype-associated VAR_061341 commonName VAR_061341 VAR_061341 disease not phenotype-associated VAR_061342 commonName VAR_061342 VAR_061342 disease not phenotype-associated VAR_061343 commonName VAR_061343 VAR_061343 disease not phenotype-associated VAR_061344 commonName VAR_061344 VAR_061344 disease not phenotype-associated VAR_061345 commonName VAR_061345 VAR_061345 disease not phenotype-associated VAR_061347 commonName VAR_061347 VAR_061347 disease not phenotype-associated VAR_061348 commonName VAR_061348 VAR_061348 disease not phenotype-associated VAR_061349 commonName VAR_061349 VAR_061349 disease not phenotype-associated VAR_061350 commonName VAR_061350 VAR_061350 disease not phenotype-associated VAR_061351 commonName VAR_061351 VAR_061351 disease not phenotype-associated VAR_061352 commonName VAR_061352 VAR_061352 disease not phenotype-associated VAR_061353 commonName VAR_061353 VAR_061353 disease not phenotype-associated VAR_061354 commonName VAR_061354 VAR_061354 disease not phenotype-associated VAR_061355 commonName VAR_061355 VAR_061355 disease not phenotype-associated VAR_061356 commonName VAR_061356 VAR_061356 disease not phenotype-associated VAR_061357 commonName VAR_061357 VAR_061357 disease not phenotype-associated VAR_061358 commonName VAR_061358 VAR_061358 disease not phenotype-associated VAR_061359 commonName VAR_061359 VAR_061359 disease not phenotype-associated VAR_061360 commonName VAR_061360 VAR_061360 disease not phenotype-associated VAR_061361 commonName VAR_061361 VAR_061361 disease not phenotype-associated VAR_061362 commonName VAR_061362 VAR_061362 disease not phenotype-associated VAR_061363 commonName VAR_061363 VAR_061363 disease not phenotype-associated VAR_061364 commonName VAR_061364 VAR_061364 disease not phenotype-associated VAR_061365 commonName VAR_061365 VAR_061365 disease not phenotype-associated VAR_061366 commonName VAR_061366 VAR_061366 disease not phenotype-associated VAR_061367 commonName VAR_061367 VAR_061367 disease not phenotype-associated VAR_061369 commonName VAR_061369 VAR_061369 disease not phenotype-associated VAR_061370 commonName VAR_061370 VAR_061370 disease not phenotype-associated VAR_061371 commonName VAR_061371 VAR_061371 disease not phenotype-associated VAR_061372 commonName VAR_061372 VAR_061372 disease not phenotype-associated VAR_061373 commonName VAR_061373 VAR_061373 disease not phenotype-associated VAR_061374 commonName VAR_061374 VAR_061374 disease not phenotype-associated VAR_061375 commonName VAR_061375 VAR_061375 disease not phenotype-associated VAR_061376 commonName VAR_061376 VAR_061376 disease not phenotype-associated VAR_061377 commonName VAR_061377 VAR_061377 disease not phenotype-associated VAR_061378 commonName VAR_061378 VAR_061378 disease not phenotype-associated VAR_061379 commonName VAR_061379 VAR_061379 disease not phenotype-associated VAR_061380 commonName VAR_061380 VAR_061380 disease not phenotype-associated VAR_061382 commonName VAR_061382 VAR_061382 disease not phenotype-associated VAR_061383 commonName VAR_061383 VAR_061383 disease not phenotype-associated VAR_061384 commonName VAR_061384 VAR_061384 disease not phenotype-associated VAR_061385 commonName VAR_061385 VAR_061385 disease not phenotype-associated VAR_061483 commonName VAR_061483 VAR_061483 disease not phenotype-associated VAR_061484 commonName VAR_061484 VAR_061484 disease not phenotype-associated VAR_061485 commonName VAR_061485 VAR_061485 disease not phenotype-associated VAR_061488 commonName VAR_061488 VAR_061488 disease not phenotype-associated VAR_061489 commonName VAR_061489 VAR_061489 disease not phenotype-associated VAR_061490 commonName VAR_061490 VAR_061490 disease not phenotype-associated VAR_061491 commonName VAR_061491 VAR_061491 disease not phenotype-associated VAR_061492 commonName VAR_061492 VAR_061492 disease not phenotype-associated VAR_061493 commonName VAR_061493 VAR_061493 disease not phenotype-associated VAR_061494 commonName VAR_061494 VAR_061494 disease not phenotype-associated VAR_061495 commonName VAR_061495 VAR_061495 disease not phenotype-associated VAR_061496 commonName VAR_061496 VAR_061496 disease not phenotype-associated VAR_061497 commonName VAR_061497 VAR_061497 disease not phenotype-associated VAR_061498 commonName VAR_061498 VAR_061498 disease not phenotype-associated VAR_061499 commonName VAR_061499 VAR_061499 disease not phenotype-associated VAR_061500 commonName VAR_061500 VAR_061500 disease not phenotype-associated VAR_061501 commonName VAR_061501 VAR_061501 disease not phenotype-associated VAR_061502 commonName VAR_061502 VAR_061502 disease not phenotype-associated VAR_061503 commonName VAR_061503 VAR_061503 disease not phenotype-associated VAR_061504 commonName VAR_061504 VAR_061504 disease not phenotype-associated VAR_061505 commonName VAR_061505 VAR_061505 disease not phenotype-associated VAR_061506 commonName VAR_061506 VAR_061506 disease not phenotype-associated VAR_061507 commonName VAR_061507 VAR_061507 disease not phenotype-associated VAR_061508 commonName VAR_061508 VAR_061508 disease not phenotype-associated VAR_061509 commonName VAR_061509 VAR_061509 disease not phenotype-associated VAR_061510 commonName VAR_061510 VAR_061510 disease not phenotype-associated VAR_061511 commonName VAR_061511 VAR_061511 disease not phenotype-associated VAR_061512 commonName VAR_061512 VAR_061512 disease not phenotype-associated VAR_061513 commonName VAR_061513 VAR_061513 disease not phenotype-associated VAR_061514 commonName VAR_061514 VAR_061514 disease not phenotype-associated VAR_061515 commonName VAR_061515 VAR_061515 disease not phenotype-associated VAR_061517 commonName VAR_061517 VAR_061517 disease not phenotype-associated VAR_061520 commonName VAR_061520 VAR_061520 disease not phenotype-associated VAR_061521 commonName VAR_061521 VAR_061521 disease not phenotype-associated VAR_061522 commonName VAR_061522 VAR_061522 disease not phenotype-associated VAR_061523 commonName VAR_061523 VAR_061523 disease not phenotype-associated VAR_061524 commonName VAR_061524 VAR_061524 disease not phenotype-associated VAR_061525 commonName VAR_061525 VAR_061525 disease not phenotype-associated VAR_061526 commonName VAR_061526 VAR_061526 disease not phenotype-associated VAR_061527 commonName VAR_061527 VAR_061527 disease not phenotype-associated VAR_061528 commonName VAR_061528 VAR_061528 disease not phenotype-associated VAR_061529 commonName VAR_061529 VAR_061529 disease not phenotype-associated VAR_061530 commonName VAR_061530 VAR_061530 disease not phenotype-associated VAR_061532 commonName VAR_061532 VAR_061532 disease not phenotype-associated VAR_061533 commonName VAR_061533 VAR_061533 disease not phenotype-associated VAR_061534 commonName VAR_061534 VAR_061534 disease not phenotype-associated VAR_061535 commonName VAR_061535 VAR_061535 disease not phenotype-associated VAR_061536 commonName VAR_061536 VAR_061536 disease not phenotype-associated VAR_061537 commonName VAR_061537 VAR_061537 disease not phenotype-associated VAR_061538 commonName VAR_061538 VAR_061538 disease not phenotype-associated VAR_061539 commonName VAR_061539 VAR_061539 disease not phenotype-associated VAR_061540 commonName VAR_061540 VAR_061540 disease not phenotype-associated VAR_061541 commonName VAR_061541 VAR_061541 disease not phenotype-associated VAR_061542 commonName VAR_061542 VAR_061542 disease not phenotype-associated VAR_061545 commonName VAR_061545 VAR_061545 disease not phenotype-associated VAR_061547 commonName VAR_061547 VAR_061547 disease not phenotype-associated VAR_061548 commonName VAR_061548 VAR_061548 disease not phenotype-associated VAR_061549 commonName VAR_061549 VAR_061549 disease not phenotype-associated VAR_061550 commonName VAR_061550 VAR_061550 disease not phenotype-associated VAR_061551 commonName VAR_061551 VAR_061551 disease not phenotype-associated VAR_061552 commonName VAR_061552 VAR_061552 disease not phenotype-associated VAR_061553 commonName VAR_061553 VAR_061553 disease not phenotype-associated VAR_061554 commonName VAR_061554 VAR_061554 disease not phenotype-associated VAR_061557 commonName VAR_061557 VAR_061557 disease not phenotype-associated VAR_061559 commonName VAR_061559 VAR_061559 disease not phenotype-associated VAR_061560 commonName VAR_061560 VAR_061560 disease not phenotype-associated VAR_061561 commonName VAR_061561 VAR_061561 disease not phenotype-associated VAR_061562 commonName VAR_061562 VAR_061562 disease not phenotype-associated VAR_061563 commonName VAR_061563 VAR_061563 disease not phenotype-associated VAR_061564 commonName VAR_061564 VAR_061564 disease not phenotype-associated VAR_061565 commonName VAR_061565 VAR_061565 disease not phenotype-associated VAR_061566 commonName VAR_061566 VAR_061566 disease not phenotype-associated VAR_061567 commonName VAR_061567 VAR_061567 disease not phenotype-associated VAR_061568 commonName VAR_061568 VAR_061568 disease not phenotype-associated VAR_061569 commonName VAR_061569 VAR_061569 disease not phenotype-associated VAR_061571 commonName VAR_061571 VAR_061571 disease not phenotype-associated VAR_061572 commonName VAR_061572 VAR_061572 disease not phenotype-associated VAR_061574 commonName VAR_061574 VAR_061574 disease not phenotype-associated VAR_061575 commonName VAR_061575 VAR_061575 disease not phenotype-associated VAR_061576 commonName VAR_061576 VAR_061576 disease not phenotype-associated VAR_061577 commonName VAR_061577 VAR_061577 disease not phenotype-associated VAR_061579 commonName VAR_061579 VAR_061579 disease not phenotype-associated VAR_061580 commonName VAR_061580 VAR_061580 disease not phenotype-associated VAR_061581 commonName VAR_061581 VAR_061581 disease not phenotype-associated VAR_061582 commonName VAR_061582 VAR_061582 disease not phenotype-associated VAR_061583 commonName VAR_061583 VAR_061583 disease not phenotype-associated VAR_061584 commonName VAR_061584 VAR_061584 disease not phenotype-associated VAR_061585 commonName VAR_061585 VAR_061585 disease not phenotype-associated VAR_061586 commonName VAR_061586 VAR_061586 disease not phenotype-associated VAR_061587 commonName VAR_061587 VAR_061587 disease not phenotype-associated VAR_061588 commonName VAR_061588 VAR_061588 disease not phenotype-associated VAR_061589 commonName VAR_061589 VAR_061589 disease not phenotype-associated VAR_061590 commonName VAR_061590 VAR_061590 disease not phenotype-associated VAR_061591 commonName VAR_061591 VAR_061591 disease not phenotype-associated VAR_061592 commonName VAR_061592 VAR_061592 disease not phenotype-associated VAR_061593 commonName VAR_061593 VAR_061593 disease not phenotype-associated VAR_061594 commonName VAR_061594 VAR_061594 disease not phenotype-associated VAR_061595 commonName VAR_061595 VAR_061595 disease not phenotype-associated VAR_061596 commonName VAR_061596 VAR_061596 disease not phenotype-associated VAR_061597 commonName VAR_061597 VAR_061597 disease not phenotype-associated VAR_061598 commonName VAR_061598 VAR_061598 disease not phenotype-associated VAR_061599 commonName VAR_061599 VAR_061599 disease not phenotype-associated VAR_061600 commonName VAR_061600 VAR_061600 disease not phenotype-associated VAR_061601 commonName VAR_061601 VAR_061601 disease not phenotype-associated VAR_061602 commonName VAR_061602 VAR_061602 disease not phenotype-associated VAR_061603 commonName VAR_061603 VAR_061603 disease not phenotype-associated VAR_061604 commonName VAR_061604 VAR_061604 disease not phenotype-associated VAR_061605 commonName VAR_061605 VAR_061605 disease not phenotype-associated VAR_061606 commonName VAR_061606 VAR_061606 disease not phenotype-associated VAR_061607 commonName VAR_061607 VAR_061607 disease not phenotype-associated VAR_061608 commonName VAR_061608 VAR_061608 disease not phenotype-associated VAR_061609 commonName VAR_061609 VAR_061609 disease not phenotype-associated VAR_061610 commonName VAR_061610 VAR_061610 disease not phenotype-associated VAR_061611 commonName VAR_061611 VAR_061611 disease not phenotype-associated VAR_061612 commonName VAR_061612 VAR_061612 disease not phenotype-associated VAR_061613 commonName VAR_061613 VAR_061613 disease not phenotype-associated VAR_061614 commonName VAR_061614 VAR_061614 disease not phenotype-associated VAR_061615 commonName VAR_061615 VAR_061615 disease not phenotype-associated VAR_061616 commonName VAR_061616 VAR_061616 disease not phenotype-associated VAR_061617 commonName VAR_061617 VAR_061617 disease not phenotype-associated VAR_061618 commonName VAR_061618 VAR_061618 disease not phenotype-associated VAR_061619 commonName VAR_061619 VAR_061619 disease not phenotype-associated VAR_061620 commonName VAR_061620 VAR_061620 disease not phenotype-associated VAR_061621 commonName VAR_061621 VAR_061621 disease not phenotype-associated VAR_061622 commonName VAR_061622 VAR_061622 disease not phenotype-associated VAR_061623 commonName VAR_061623 VAR_061623 disease not phenotype-associated VAR_061624 commonName VAR_061624 VAR_061624 disease not phenotype-associated VAR_061625 commonName VAR_061625 VAR_061625 disease not phenotype-associated VAR_061626 commonName VAR_061626 VAR_061626 disease not phenotype-associated VAR_061627 commonName VAR_061627 VAR_061627 disease not phenotype-associated VAR_061628 commonName VAR_061628 VAR_061628 disease not phenotype-associated VAR_061629 commonName VAR_061629 VAR_061629 disease not phenotype-associated VAR_061630 commonName VAR_061630 VAR_061630 disease not phenotype-associated VAR_061631 commonName VAR_061631 VAR_061631 disease not phenotype-associated VAR_061632 commonName VAR_061632 VAR_061632 disease not phenotype-associated VAR_061633 commonName VAR_061633 VAR_061633 disease not phenotype-associated VAR_061634 commonName VAR_061634 VAR_061634 disease not phenotype-associated VAR_061635 commonName VAR_061635 VAR_061635 disease not phenotype-associated VAR_061636 commonName VAR_061636 VAR_061636 disease not phenotype-associated VAR_061637 commonName VAR_061637 VAR_061637 disease not phenotype-associated VAR_061638 commonName VAR_061638 VAR_061638 disease not phenotype-associated VAR_061639 commonName VAR_061639 VAR_061639 disease not phenotype-associated VAR_061641 commonName VAR_061641 VAR_061641 disease not phenotype-associated VAR_061642 commonName VAR_061642 VAR_061642 disease not phenotype-associated VAR_061643 commonName VAR_061643 VAR_061643 disease not phenotype-associated VAR_061645 commonName VAR_061645 VAR_061645 disease not phenotype-associated VAR_061646 commonName VAR_061646 VAR_061646 disease not phenotype-associated VAR_061648 commonName VAR_061648 VAR_061648 disease not phenotype-associated VAR_061649 commonName VAR_061649 VAR_061649 disease not phenotype-associated VAR_061650 commonName VAR_061650 VAR_061650 disease not phenotype-associated VAR_061651 commonName VAR_061651 VAR_061651 disease not phenotype-associated VAR_061652 commonName VAR_061652 VAR_061652 disease not phenotype-associated VAR_061653 commonName VAR_061653 VAR_061653 disease not phenotype-associated VAR_061654 commonName VAR_061654 VAR_061654 disease not phenotype-associated VAR_061655 commonName VAR_061655 VAR_061655 disease not phenotype-associated VAR_061656 commonName VAR_061656 VAR_061656 disease not phenotype-associated VAR_061657 commonName VAR_061657 VAR_061657 disease not phenotype-associated VAR_061658 commonName VAR_061658 VAR_061658 disease not phenotype-associated VAR_061659 commonName VAR_061659 VAR_061659 disease not phenotype-associated VAR_061660 commonName VAR_061660 VAR_061660 disease not phenotype-associated VAR_061661 commonName VAR_061661 VAR_061661 disease not phenotype-associated VAR_061662 commonName VAR_061662 VAR_061662 disease not phenotype-associated VAR_061663 commonName VAR_061663 VAR_061663 disease not phenotype-associated VAR_061664 commonName VAR_061664 VAR_061664 disease not phenotype-associated VAR_061665 commonName VAR_061665 VAR_061665 disease not phenotype-associated VAR_061667 commonName VAR_061667 VAR_061667 disease not phenotype-associated VAR_061668 commonName VAR_061668 VAR_061668 disease not phenotype-associated VAR_061669 commonName VAR_061669 VAR_061669 disease not phenotype-associated VAR_061670 commonName VAR_061670 VAR_061670 disease not phenotype-associated VAR_061672 commonName VAR_061672 VAR_061672 disease not phenotype-associated VAR_061673 commonName VAR_061673 VAR_061673 disease not phenotype-associated VAR_061674 commonName VAR_061674 VAR_061674 disease not phenotype-associated VAR_061675 commonName VAR_061675 VAR_061675 disease not phenotype-associated VAR_061676 commonName VAR_061676 VAR_061676 disease not phenotype-associated VAR_061677 commonName VAR_061677 VAR_061677 disease not phenotype-associated VAR_061678 commonName VAR_061678 VAR_061678 disease not phenotype-associated VAR_061679 commonName VAR_061679 VAR_061679 disease not phenotype-associated VAR_061680 commonName VAR_061680 VAR_061680 disease not phenotype-associated VAR_061681 commonName VAR_061681 VAR_061681 disease not phenotype-associated VAR_061682 commonName VAR_061682 VAR_061682 disease not phenotype-associated VAR_061683 commonName VAR_061683 VAR_061683 disease not phenotype-associated VAR_061684 commonName VAR_061684 VAR_061684 disease not phenotype-associated VAR_061685 commonName VAR_061685 VAR_061685 disease not phenotype-associated VAR_061686 commonName VAR_061686 VAR_061686 disease not phenotype-associated VAR_061687 commonName VAR_061687 VAR_061687 disease not phenotype-associated VAR_061688 commonName VAR_061688 VAR_061688 disease not phenotype-associated VAR_061689 commonName VAR_061689 VAR_061689 disease not phenotype-associated VAR_061690 commonName VAR_061690 VAR_061690 disease not phenotype-associated VAR_061691 commonName VAR_061691 VAR_061691 disease not phenotype-associated VAR_061693 commonName VAR_061693 VAR_061693 disease not phenotype-associated VAR_061694 commonName VAR_061694 VAR_061694 disease not phenotype-associated VAR_061695 commonName VAR_061695 VAR_061695 disease not phenotype-associated VAR_061696 commonName VAR_061696 VAR_061696 disease not phenotype-associated VAR_061697 commonName VAR_061697 VAR_061697 disease not phenotype-associated VAR_061698 commonName VAR_061698 VAR_061698 disease not phenotype-associated VAR_061699 commonName VAR_061699 VAR_061699 disease not phenotype-associated VAR_061700 commonName VAR_061700 VAR_061700 disease not phenotype-associated VAR_061701 commonName VAR_061701 VAR_061701 disease not phenotype-associated VAR_061702 commonName VAR_061702 VAR_061702 disease not phenotype-associated VAR_061704 commonName VAR_061704 VAR_061704 disease not phenotype-associated VAR_061706 commonName VAR_061706 VAR_061706 disease not phenotype-associated VAR_061707 commonName VAR_061707 VAR_061707 disease not phenotype-associated VAR_061708 commonName VAR_061708 VAR_061708 disease not phenotype-associated VAR_061709 commonName VAR_061709 VAR_061709 disease not phenotype-associated VAR_061710 commonName VAR_061710 VAR_061710 disease not phenotype-associated VAR_061711 commonName VAR_061711 VAR_061711 disease not phenotype-associated VAR_061712 commonName VAR_061712 VAR_061712 disease not phenotype-associated VAR_061713 commonName VAR_061713 VAR_061713 disease not phenotype-associated VAR_061714 commonName VAR_061714 VAR_061714 disease not phenotype-associated VAR_061715 commonName VAR_061715 VAR_061715 disease not phenotype-associated VAR_061716 commonName VAR_061716 VAR_061716 disease not phenotype-associated VAR_061717 commonName VAR_061717 VAR_061717 disease not phenotype-associated VAR_061719 commonName VAR_061719 VAR_061719 disease not phenotype-associated VAR_061720 commonName VAR_061720 VAR_061720 disease not phenotype-associated VAR_061721 commonName VAR_061721 VAR_061721 disease not phenotype-associated VAR_061722 commonName VAR_061722 VAR_061722 disease not phenotype-associated VAR_061723 commonName VAR_061723 VAR_061723 disease not phenotype-associated VAR_061724 commonName VAR_061724 VAR_061724 disease not phenotype-associated VAR_061725 commonName VAR_061725 VAR_061725 disease not phenotype-associated VAR_061726 commonName VAR_061726 VAR_061726 disease not phenotype-associated VAR_061728 commonName VAR_061728 VAR_061728 disease not phenotype-associated VAR_061729 commonName VAR_061729 VAR_061729 disease not phenotype-associated VAR_061730 commonName VAR_061730 VAR_061730 disease not phenotype-associated VAR_061732 commonName VAR_061732 VAR_061732 disease not phenotype-associated VAR_061733 commonName VAR_061733 VAR_061733 disease not phenotype-associated VAR_061734 commonName VAR_061734 VAR_061734 disease not phenotype-associated VAR_061738 commonName VAR_061738 VAR_061738 disease not phenotype-associated VAR_061739 commonName VAR_061739 VAR_061739 disease not phenotype-associated VAR_061740 commonName VAR_061740 VAR_061740 disease not phenotype-associated VAR_061741 commonName VAR_061741 VAR_061741 disease not phenotype-associated VAR_061742 commonName VAR_061742 VAR_061742 disease not phenotype-associated VAR_061743 commonName VAR_061743 VAR_061743 disease not phenotype-associated VAR_061744 commonName VAR_061744 VAR_061744 disease not phenotype-associated VAR_061745 commonName VAR_061745 VAR_061745 disease not phenotype-associated VAR_061746 commonName VAR_061746 VAR_061746 disease not phenotype-associated VAR_061747 commonName VAR_061747 VAR_061747 disease not phenotype-associated VAR_061748 commonName VAR_061748 VAR_061748 disease not phenotype-associated VAR_061749 commonName VAR_061749 VAR_061749 disease not phenotype-associated VAR_061750 commonName VAR_061750 VAR_061750 disease not phenotype-associated VAR_061751 commonName VAR_061751 VAR_061751 disease not phenotype-associated VAR_061752 commonName VAR_061752 VAR_061752 disease not phenotype-associated VAR_061753 commonName VAR_061753 VAR_061753 disease not phenotype-associated VAR_061754 commonName VAR_061754 VAR_061754 disease not phenotype-associated VAR_061755 commonName VAR_061755 VAR_061755 disease not phenotype-associated VAR_061756 commonName VAR_061756 VAR_061756 disease not phenotype-associated VAR_061757 commonName VAR_061757 VAR_061757 disease not phenotype-associated VAR_061759 commonName VAR_061759 VAR_061759 disease not phenotype-associated VAR_061760 commonName VAR_061760 VAR_061760 disease not phenotype-associated VAR_061761 commonName VAR_061761 VAR_061761 disease not phenotype-associated VAR_061762 commonName VAR_061762 VAR_061762 disease not phenotype-associated VAR_061763 commonName VAR_061763 VAR_061763 disease not phenotype-associated VAR_061765 commonName VAR_061765 VAR_061765 disease not phenotype-associated VAR_061767 commonName VAR_061767 VAR_061767 disease not phenotype-associated VAR_061768 commonName VAR_061768 VAR_061768 disease not phenotype-associated VAR_061769 commonName VAR_061769 VAR_061769 disease not phenotype-associated VAR_061771 commonName VAR_061771 VAR_061771 disease not phenotype-associated VAR_061772 commonName VAR_061772 VAR_061772 disease not phenotype-associated VAR_061773 commonName VAR_061773 VAR_061773 disease not phenotype-associated VAR_061774 commonName VAR_061774 VAR_061774 disease not phenotype-associated VAR_061776 commonName VAR_061776 VAR_061776 disease not phenotype-associated VAR_061778 commonName VAR_061778 VAR_061778 disease not phenotype-associated VAR_061779 commonName VAR_061779 VAR_061779 disease not phenotype-associated VAR_061780 commonName VAR_061780 VAR_061780 disease not phenotype-associated VAR_061781 commonName VAR_061781 VAR_061781 disease not phenotype-associated VAR_061782 commonName VAR_061782 VAR_061782 disease not phenotype-associated VAR_061783 commonName VAR_061783 VAR_061783 disease not phenotype-associated VAR_061784 commonName VAR_061784 VAR_061784 disease not phenotype-associated VAR_061785 commonName VAR_061785 VAR_061785 disease not phenotype-associated VAR_061786 commonName VAR_061786 VAR_061786 disease not phenotype-associated VAR_061788 commonName VAR_061788 VAR_061788 disease not phenotype-associated VAR_061789 commonName VAR_061789 VAR_061789 disease not phenotype-associated VAR_061790 commonName VAR_061790 VAR_061790 disease not phenotype-associated VAR_061791 commonName VAR_061791 VAR_061791 disease not phenotype-associated VAR_061792 commonName VAR_061792 VAR_061792 disease not phenotype-associated VAR_061793 commonName VAR_061793 VAR_061793 disease not phenotype-associated VAR_061794 commonName VAR_061794 VAR_061794 disease not phenotype-associated VAR_061795 commonName VAR_061795 VAR_061795 disease not phenotype-associated VAR_061798 commonName VAR_061798 VAR_061798 disease not phenotype-associated VAR_061799 commonName VAR_061799 VAR_061799 disease not phenotype-associated VAR_061800 commonName VAR_061800 VAR_061800 disease not phenotype-associated VAR_061801 commonName VAR_061801 VAR_061801 disease not phenotype-associated VAR_061802 commonName VAR_061802 VAR_061802 disease not phenotype-associated VAR_061803 commonName VAR_061803 VAR_061803 disease not phenotype-associated VAR_061804 commonName VAR_061804 VAR_061804 disease not phenotype-associated VAR_061805 commonName VAR_061805 VAR_061805 disease not phenotype-associated VAR_061806 commonName VAR_061806 VAR_061806 disease not phenotype-associated VAR_061807 commonName VAR_061807 VAR_061807 disease not phenotype-associated VAR_061808 commonName VAR_061808 VAR_061808 disease not phenotype-associated VAR_061809 commonName VAR_061809 VAR_061809 disease not phenotype-associated VAR_061810 commonName VAR_061810 VAR_061810 disease not phenotype-associated VAR_061811 commonName VAR_061811 VAR_061811 disease not phenotype-associated VAR_061812 commonName VAR_061812 VAR_061812 disease not phenotype-associated VAR_061813 commonName VAR_061813 VAR_061813 disease not phenotype-associated VAR_061814 commonName VAR_061814 VAR_061814 disease not phenotype-associated VAR_061815 commonName VAR_061815 VAR_061815 disease not phenotype-associated VAR_061816 commonName VAR_061816 VAR_061816 disease not phenotype-associated VAR_061817 commonName VAR_061817 VAR_061817 disease not phenotype-associated VAR_061818 commonName VAR_061818 VAR_061818 disease not phenotype-associated VAR_061821 commonName VAR_061821 VAR_061821 disease not phenotype-associated VAR_061823 commonName VAR_061823 VAR_061823 disease not phenotype-associated VAR_061824 commonName VAR_061824 VAR_061824 disease not phenotype-associated VAR_061825 commonName VAR_061825 VAR_061825 disease not phenotype-associated VAR_061826 commonName VAR_061826 VAR_061826 disease not phenotype-associated VAR_061827 commonName VAR_061827 VAR_061827 disease not phenotype-associated VAR_061828 commonName VAR_061828 VAR_061828 disease not phenotype-associated VAR_061829 commonName VAR_061829 VAR_061829 disease not phenotype-associated VAR_061830 commonName VAR_061830 VAR_061830 disease not phenotype-associated VAR_061831 commonName VAR_061831 VAR_061831 disease not phenotype-associated VAR_061833 commonName VAR_061833 VAR_061833 disease not phenotype-associated VAR_061834 commonName VAR_061834 VAR_061834 disease not phenotype-associated VAR_061835 commonName VAR_061835 VAR_061835 disease not phenotype-associated VAR_061836 commonName VAR_061836 VAR_061836 disease not phenotype-associated VAR_061837 commonName VAR_061837 VAR_061837 disease not phenotype-associated VAR_061839 commonName VAR_061839 VAR_061839 disease not phenotype-associated VAR_061841 commonName VAR_061841 VAR_061841 disease not phenotype-associated VAR_061843 commonName VAR_061843 VAR_061843 disease not phenotype-associated VAR_061844 commonName VAR_061844 VAR_061844 disease not phenotype-associated VAR_061845 commonName VAR_061845 VAR_061845 disease not phenotype-associated VAR_061846 commonName VAR_061846 VAR_061846 disease not phenotype-associated VAR_061847 commonName VAR_061847 VAR_061847 disease not phenotype-associated VAR_061848 commonName VAR_061848 VAR_061848 disease not phenotype-associated VAR_061850 commonName VAR_061850 VAR_061850 disease not phenotype-associated VAR_061851 commonName VAR_061851 VAR_061851 disease not phenotype-associated VAR_061852 commonName VAR_061852 VAR_061852 disease not phenotype-associated VAR_061854 commonName VAR_061854 VAR_061854 disease not phenotype-associated VAR_061855 commonName VAR_061855 VAR_061855 disease not phenotype-associated VAR_061856 commonName VAR_061856 VAR_061856 disease not phenotype-associated VAR_061857 commonName VAR_061857 VAR_061857 disease not phenotype-associated VAR_061858 commonName VAR_061858 VAR_061858 disease not phenotype-associated VAR_061859 commonName VAR_061859 VAR_061859 disease not phenotype-associated VAR_061860 commonName VAR_061860 VAR_061860 disease not phenotype-associated VAR_061861 commonName VAR_061861 VAR_061861 disease not phenotype-associated VAR_061863 commonName VAR_061863 VAR_061863 disease not phenotype-associated VAR_061864 commonName VAR_061864 VAR_061864 disease not phenotype-associated VAR_061865 commonName VAR_061865 VAR_061865 disease not phenotype-associated VAR_061866 commonName VAR_061866 VAR_061866 disease not phenotype-associated VAR_061868 commonName VAR_061868 VAR_061868 disease not phenotype-associated VAR_061869 commonName VAR_061869 VAR_061869 disease not phenotype-associated VAR_061870 commonName VAR_061870 VAR_061870 disease not phenotype-associated VAR_061871 commonName VAR_061871 VAR_061871 disease not phenotype-associated VAR_061873 commonName VAR_061873 VAR_061873 disease not phenotype-associated VAR_061874 commonName VAR_061874 VAR_061874 disease not phenotype-associated VAR_061875 commonName VAR_061875 VAR_061875 disease not phenotype-associated VAR_061876 commonName VAR_061876 VAR_061876 disease not phenotype-associated VAR_061877 commonName VAR_061877 VAR_061877 disease not phenotype-associated VAR_061879 commonName VAR_061879 VAR_061879 disease not phenotype-associated VAR_061880 commonName VAR_061880 VAR_061880 disease not phenotype-associated VAR_061881 commonName VAR_061881 VAR_061881 disease not phenotype-associated VAR_061882 commonName VAR_061882 VAR_061882 disease not phenotype-associated VAR_061883 commonName VAR_061883 VAR_061883 disease not phenotype-associated VAR_061885 commonName VAR_061885 VAR_061885 disease not phenotype-associated VAR_061886 commonName VAR_061886 VAR_061886 disease not phenotype-associated VAR_061887 commonName VAR_061887 VAR_061887 disease not phenotype-associated VAR_061888 commonName VAR_061888 VAR_061888 disease not phenotype-associated VAR_061889 commonName VAR_061889 VAR_061889 disease not phenotype-associated VAR_061890 commonName VAR_061890 VAR_061890 disease not phenotype-associated VAR_061891 commonName VAR_061891 VAR_061891 disease not phenotype-associated VAR_061892 commonName VAR_061892 VAR_061892 disease not phenotype-associated VAR_061893 commonName VAR_061893 VAR_061893 disease not phenotype-associated VAR_061896 commonName VAR_061896 VAR_061896 disease not phenotype-associated VAR_061897 commonName VAR_061897 VAR_061897 disease not phenotype-associated VAR_061898 commonName VAR_061898 VAR_061898 disease not phenotype-associated VAR_061899 commonName VAR_061899 VAR_061899 disease not phenotype-associated VAR_061900 commonName VAR_061900 VAR_061900 disease not phenotype-associated VAR_061901 commonName VAR_061901 VAR_061901 disease not phenotype-associated VAR_061902 commonName VAR_061902 VAR_061902 disease not phenotype-associated VAR_061905 commonName VAR_061905 VAR_061905 disease not phenotype-associated VAR_061906 commonName VAR_061906 VAR_061906 disease not phenotype-associated VAR_061907 commonName VAR_061907 VAR_061907 disease not phenotype-associated VAR_061908 commonName VAR_061908 VAR_061908 disease not phenotype-associated VAR_061911 commonName VAR_061911 VAR_061911 disease not phenotype-associated VAR_061912 commonName VAR_061912 VAR_061912 disease not phenotype-associated VAR_061913 commonName VAR_061913 VAR_061913 disease not phenotype-associated VAR_061914 commonName VAR_061914 VAR_061914 disease not phenotype-associated VAR_061915 commonName VAR_061915 VAR_061915 disease not phenotype-associated VAR_061916 commonName VAR_061916 VAR_061916 disease not phenotype-associated VAR_061917 commonName VAR_061917 VAR_061917 disease not phenotype-associated VAR_061918 commonName VAR_061918 VAR_061918 disease not phenotype-associated VAR_061919 commonName VAR_061919 VAR_061919 disease not phenotype-associated VAR_061921 commonName VAR_061921 VAR_061921 disease not phenotype-associated VAR_061922 commonName VAR_061922 VAR_061922 disease not phenotype-associated VAR_061923 commonName VAR_061923 VAR_061923 disease not phenotype-associated VAR_061924 commonName VAR_061924 VAR_061924 disease not phenotype-associated VAR_061925 commonName VAR_061925 VAR_061925 disease not phenotype-associated VAR_061926 commonName VAR_061926 VAR_061926 disease not phenotype-associated VAR_061927 commonName VAR_061927 VAR_061927 disease not phenotype-associated VAR_061928 commonName VAR_061928 VAR_061928 disease not phenotype-associated VAR_061929 commonName VAR_061929 VAR_061929 disease not phenotype-associated VAR_061930 commonName VAR_061930 VAR_061930 disease not phenotype-associated VAR_061931 commonName VAR_061931 VAR_061931 disease not phenotype-associated VAR_061932 commonName VAR_061932 VAR_061932 disease not phenotype-associated VAR_061933 commonName VAR_061933 VAR_061933 disease not phenotype-associated VAR_061934 commonName VAR_061934 VAR_061934 disease not phenotype-associated VAR_061935 commonName VAR_061935 VAR_061935 disease not phenotype-associated VAR_061936 commonName VAR_061936 VAR_061936 disease not phenotype-associated VAR_061937 commonName VAR_061937 VAR_061937 disease not phenotype-associated VAR_061938 commonName VAR_061938 VAR_061938 disease not phenotype-associated VAR_061939 commonName VAR_061939 VAR_061939 disease not phenotype-associated VAR_061940 commonName VAR_061940 VAR_061940 disease not phenotype-associated VAR_061941 commonName VAR_061941 VAR_061941 disease not phenotype-associated VAR_061942 commonName VAR_061942 VAR_061942 disease not phenotype-associated VAR_061943 commonName VAR_061943 VAR_061943 disease not phenotype-associated VAR_061944 commonName VAR_061944 VAR_061944 disease not phenotype-associated VAR_061945 commonName VAR_061945 VAR_061945 disease not phenotype-associated VAR_061946 commonName VAR_061946 VAR_061946 disease not phenotype-associated VAR_061947 commonName VAR_061947 VAR_061947 disease not phenotype-associated VAR_061948 commonName VAR_061948 VAR_061948 disease not phenotype-associated VAR_061949 commonName VAR_061949 VAR_061949 disease not phenotype-associated VAR_061950 commonName VAR_061950 VAR_061950 disease not phenotype-associated VAR_061951 commonName VAR_061951 VAR_061951 disease not phenotype-associated VAR_061952 commonName VAR_061952 VAR_061952 disease not phenotype-associated VAR_061953 commonName VAR_061953 VAR_061953 disease not phenotype-associated VAR_061954 commonName VAR_061954 VAR_061954 disease not phenotype-associated VAR_061955 commonName VAR_061955 VAR_061955 disease not phenotype-associated VAR_061956 commonName VAR_061956 VAR_061956 disease not phenotype-associated VAR_061957 commonName VAR_061957 VAR_061957 disease not phenotype-associated VAR_061959 commonName VAR_061959 VAR_061959 disease not phenotype-associated VAR_061960 commonName VAR_061960 VAR_061960 disease not phenotype-associated VAR_061961 commonName VAR_061961 VAR_061961 disease not phenotype-associated VAR_061962 commonName VAR_061962 VAR_061962 disease not phenotype-associated VAR_061963 commonName VAR_061963 VAR_061963 disease not phenotype-associated VAR_061964 commonName VAR_061964 VAR_061964 disease not phenotype-associated VAR_061966 commonName VAR_061966 VAR_061966 disease not phenotype-associated VAR_061968 commonName VAR_061968 VAR_061968 disease not phenotype-associated VAR_061969 commonName VAR_061969 VAR_061969 disease not phenotype-associated VAR_061977 commonName VAR_061977 VAR_061977 disease not phenotype-associated VAR_061978 commonName VAR_061978 VAR_061978 disease not phenotype-associated VAR_061979 commonName VAR_061979 VAR_061979 disease not phenotype-associated VAR_061982 commonName VAR_061982 VAR_061982 disease not phenotype-associated VAR_061983 commonName VAR_061983 VAR_061983 disease not phenotype-associated VAR_061984 commonName VAR_061984 VAR_061984 disease not phenotype-associated VAR_061985 commonName VAR_061985 VAR_061985 disease not phenotype-associated VAR_061986 commonName VAR_061986 VAR_061986 disease not phenotype-associated VAR_061987 commonName VAR_061987 VAR_061987 disease not phenotype-associated VAR_061988 commonName VAR_061988 VAR_061988 disease not phenotype-associated VAR_061989 commonName VAR_061989 VAR_061989 disease not phenotype-associated VAR_061991 commonName VAR_061991 VAR_061991 disease not phenotype-associated VAR_061992 commonName VAR_061992 VAR_061992 disease not phenotype-associated VAR_061993 commonName VAR_061993 VAR_061993 disease not phenotype-associated VAR_061994 commonName VAR_061994 VAR_061994 disease not phenotype-associated VAR_061996 commonName VAR_061996 VAR_061996 disease not phenotype-associated VAR_061997 commonName VAR_061997 VAR_061997 disease not phenotype-associated VAR_061998 commonName VAR_061998 VAR_061998 disease not phenotype-associated VAR_061999 commonName VAR_061999 VAR_061999 disease not phenotype-associated VAR_062000 commonName VAR_062000 VAR_062000 disease not phenotype-associated VAR_062001 commonName VAR_062001 VAR_062001 disease not phenotype-associated VAR_062002 commonName VAR_062002 VAR_062002 disease not phenotype-associated VAR_062003 commonName VAR_062003 VAR_062003 disease not phenotype-associated VAR_062004 commonName VAR_062004 VAR_062004 disease not phenotype-associated VAR_062005 commonName VAR_062005 VAR_062005 disease not phenotype-associated VAR_062006 commonName VAR_062006 VAR_062006 disease not phenotype-associated VAR_062007 commonName VAR_062007 VAR_062007 disease not phenotype-associated VAR_062008 commonName VAR_062008 VAR_062008 disease not phenotype-associated VAR_062009 commonName VAR_062009 VAR_062009 disease not phenotype-associated VAR_062010 commonName VAR_062010 VAR_062010 disease not phenotype-associated VAR_062011 commonName VAR_062011 VAR_062011 disease not phenotype-associated VAR_062012 commonName VAR_062012 VAR_062012 disease not phenotype-associated VAR_062013 commonName VAR_062013 VAR_062013 disease not phenotype-associated VAR_062014 commonName VAR_062014 VAR_062014 disease not phenotype-associated VAR_062015 commonName VAR_062015 VAR_062015 disease not phenotype-associated VAR_062016 commonName VAR_062016 VAR_062016 disease not phenotype-associated VAR_062017 commonName VAR_062017 VAR_062017 disease not phenotype-associated VAR_062018 commonName VAR_062018 VAR_062018 disease not phenotype-associated VAR_062019 commonName VAR_062019 VAR_062019 disease not phenotype-associated VAR_062020 commonName VAR_062020 VAR_062020 disease not phenotype-associated VAR_062021 commonName VAR_062021 VAR_062021 disease not phenotype-associated VAR_062022 commonName VAR_062022 VAR_062022 disease not phenotype-associated VAR_062023 commonName VAR_062023 VAR_062023 disease not phenotype-associated VAR_062024 commonName VAR_062024 VAR_062024 disease not phenotype-associated VAR_062025 commonName VAR_062025 VAR_062025 disease not phenotype-associated VAR_062026 commonName VAR_062026 VAR_062026 disease not phenotype-associated VAR_062027 commonName VAR_062027 VAR_062027 disease not phenotype-associated VAR_062028 commonName VAR_062028 VAR_062028 disease not phenotype-associated VAR_062029 commonName VAR_062029 VAR_062029 disease not phenotype-associated VAR_062030 commonName VAR_062030 VAR_062030 disease not phenotype-associated VAR_062031 commonName VAR_062031 VAR_062031 disease not phenotype-associated VAR_062032 commonName VAR_062032 VAR_062032 disease not phenotype-associated VAR_062033 commonName VAR_062033 VAR_062033 disease not phenotype-associated VAR_062034 commonName VAR_062034 VAR_062034 disease not phenotype-associated VAR_062035 commonName VAR_062035 VAR_062035 disease not phenotype-associated VAR_062036 commonName VAR_062036 VAR_062036 disease not phenotype-associated VAR_062037 commonName VAR_062037 VAR_062037 disease not phenotype-associated VAR_062038 commonName VAR_062038 VAR_062038 disease not phenotype-associated VAR_062039 commonName VAR_062039 VAR_062039 disease not phenotype-associated VAR_062040 commonName VAR_062040 VAR_062040 disease not phenotype-associated VAR_062041 commonName VAR_062041 VAR_062041 disease not phenotype-associated VAR_062042 commonName VAR_062042 VAR_062042 disease not phenotype-associated VAR_062043 commonName VAR_062043 VAR_062043 disease not phenotype-associated VAR_062044 commonName VAR_062044 VAR_062044 disease not phenotype-associated VAR_062045 commonName VAR_062045 VAR_062045 disease not phenotype-associated VAR_062046 commonName VAR_062046 VAR_062046 disease not phenotype-associated VAR_062047 commonName VAR_062047 VAR_062047 disease not phenotype-associated VAR_062048 commonName VAR_062048 VAR_062048 disease not phenotype-associated VAR_062049 commonName VAR_062049 VAR_062049 disease not phenotype-associated VAR_062050 commonName VAR_062050 VAR_062050 disease not phenotype-associated VAR_062051 commonName VAR_062051 VAR_062051 disease not phenotype-associated VAR_062052 commonName VAR_062052 VAR_062052 disease not phenotype-associated VAR_062053 commonName VAR_062053 VAR_062053 disease not phenotype-associated VAR_062054 commonName VAR_062054 VAR_062054 disease not phenotype-associated VAR_062055 commonName VAR_062055 VAR_062055 disease not phenotype-associated VAR_062056 commonName VAR_062056 VAR_062056 disease not phenotype-associated VAR_062057 commonName VAR_062057 VAR_062057 disease not phenotype-associated VAR_062058 commonName VAR_062058 VAR_062058 disease not phenotype-associated VAR_062059 commonName VAR_062059 VAR_062059 disease not phenotype-associated VAR_062060 commonName VAR_062060 VAR_062060 disease not phenotype-associated VAR_062061 commonName VAR_062061 VAR_062061 disease not phenotype-associated VAR_062062 commonName VAR_062062 VAR_062062 disease not phenotype-associated VAR_062063 commonName VAR_062063 VAR_062063 disease not phenotype-associated VAR_062064 commonName VAR_062064 VAR_062064 disease not phenotype-associated VAR_062065 commonName VAR_062065 VAR_062065 disease not phenotype-associated VAR_062066 commonName VAR_062066 VAR_062066 disease not phenotype-associated VAR_062067 commonName VAR_062067 VAR_062067 disease not phenotype-associated VAR_062068 commonName VAR_062068 VAR_062068 disease not phenotype-associated VAR_062069 commonName VAR_062069 VAR_062069 disease not phenotype-associated VAR_062070 commonName VAR_062070 VAR_062070 disease not phenotype-associated VAR_062071 commonName VAR_062071 VAR_062071 disease not phenotype-associated VAR_062072 commonName VAR_062072 VAR_062072 disease not phenotype-associated VAR_062073 commonName VAR_062073 VAR_062073 disease not phenotype-associated VAR_062074 commonName VAR_062074 VAR_062074 disease not phenotype-associated VAR_062075 commonName VAR_062075 VAR_062075 disease not phenotype-associated VAR_062076 commonName VAR_062076 VAR_062076 disease not phenotype-associated VAR_062077 commonName VAR_062077 VAR_062077 disease not phenotype-associated VAR_062078 commonName VAR_062078 VAR_062078 disease not phenotype-associated VAR_062079 commonName VAR_062079 VAR_062079 disease not phenotype-associated VAR_062080 commonName VAR_062080 VAR_062080 disease not phenotype-associated VAR_062082 commonName VAR_062082 VAR_062082 disease not phenotype-associated VAR_062083 commonName VAR_062083 VAR_062083 disease not phenotype-associated VAR_062084 commonName VAR_062084 VAR_062084 disease not phenotype-associated VAR_062085 commonName VAR_062085 VAR_062085 disease not phenotype-associated VAR_062086 commonName VAR_062086 VAR_062086 disease not phenotype-associated VAR_062087 commonName VAR_062087 VAR_062087 disease not phenotype-associated VAR_062088 commonName VAR_062088 VAR_062088 disease not phenotype-associated VAR_062089 commonName VAR_062089 VAR_062089 disease not phenotype-associated VAR_062090 commonName VAR_062090 VAR_062090 disease not phenotype-associated VAR_062091 commonName VAR_062091 VAR_062091 disease not phenotype-associated VAR_062092 commonName VAR_062092 VAR_062092 disease not phenotype-associated VAR_062093 commonName VAR_062093 VAR_062093 disease not phenotype-associated VAR_062094 commonName VAR_062094 VAR_062094 disease not phenotype-associated VAR_062095 commonName VAR_062095 VAR_062095 disease not phenotype-associated VAR_062096 commonName VAR_062096 VAR_062096 disease not phenotype-associated VAR_062098 commonName VAR_062098 VAR_062098 disease not phenotype-associated VAR_062099 commonName VAR_062099 VAR_062099 disease not phenotype-associated VAR_062101 commonName VAR_062101 VAR_062101 disease not phenotype-associated VAR_062102 commonName VAR_062102 VAR_062102 disease not phenotype-associated VAR_062103 commonName VAR_062103 VAR_062103 disease not phenotype-associated VAR_062104 commonName VAR_062104 VAR_062104 disease not phenotype-associated VAR_062105 commonName VAR_062105 VAR_062105 disease not phenotype-associated VAR_062106 commonName VAR_062106 VAR_062106 disease not phenotype-associated VAR_062110 commonName VAR_062110 VAR_062110 disease not phenotype-associated VAR_062111 commonName VAR_062111 VAR_062111 disease not phenotype-associated VAR_062112 commonName VAR_062112 VAR_062112 disease not phenotype-associated VAR_062113 commonName VAR_062113 VAR_062113 disease not phenotype-associated VAR_062114 commonName VAR_062114 VAR_062114 disease not phenotype-associated VAR_062115 commonName VAR_062115 VAR_062115 disease not phenotype-associated VAR_062116 commonName VAR_062116 VAR_062116 disease not phenotype-associated VAR_062117 commonName VAR_062117 VAR_062117 disease not phenotype-associated VAR_062118 commonName VAR_062118 VAR_062118 disease not phenotype-associated VAR_062119 commonName VAR_062119 VAR_062119 disease not phenotype-associated VAR_062120 commonName VAR_062120 VAR_062120 disease not phenotype-associated VAR_062121 commonName VAR_062121 VAR_062121 disease not phenotype-associated VAR_062122 commonName VAR_062122 VAR_062122 disease not phenotype-associated VAR_062123 commonName VAR_062123 VAR_062123 disease not phenotype-associated VAR_062124 commonName VAR_062124 VAR_062124 disease not phenotype-associated VAR_062125 commonName VAR_062125 VAR_062125 disease not phenotype-associated VAR_062126 commonName VAR_062126 VAR_062126 disease not phenotype-associated VAR_062127 commonName VAR_062127 VAR_062127 disease not phenotype-associated VAR_062128 commonName VAR_062128 VAR_062128 disease not phenotype-associated VAR_062129 commonName VAR_062129 VAR_062129 disease not phenotype-associated VAR_062131 commonName VAR_062131 VAR_062131 disease not phenotype-associated VAR_062132 commonName VAR_062132 VAR_062132 disease not phenotype-associated VAR_062133 commonName VAR_062133 VAR_062133 disease not phenotype-associated VAR_062136 commonName VAR_062136 VAR_062136 disease not phenotype-associated VAR_062137 commonName VAR_062137 VAR_062137 disease not phenotype-associated VAR_062138 commonName VAR_062138 VAR_062138 disease not phenotype-associated VAR_062139 commonName VAR_062139 VAR_062139 disease not phenotype-associated VAR_062140 commonName VAR_062140 VAR_062140 disease not phenotype-associated VAR_062141 commonName VAR_062141 VAR_062141 disease not phenotype-associated VAR_062142 commonName VAR_062142 VAR_062142 disease not phenotype-associated VAR_062143 commonName VAR_062143 VAR_062143 disease not phenotype-associated VAR_062145 commonName VAR_062145 VAR_062145 disease not phenotype-associated VAR_062146 commonName VAR_062146 VAR_062146 disease not phenotype-associated VAR_062147 commonName VAR_062147 VAR_062147 disease not phenotype-associated VAR_062148 commonName VAR_062148 VAR_062148 disease not phenotype-associated VAR_062149 commonName VAR_062149 VAR_062149 disease not phenotype-associated VAR_062150 commonName VAR_062150 VAR_062150 disease not phenotype-associated VAR_062151 commonName VAR_062151 VAR_062151 disease not phenotype-associated VAR_062152 commonName VAR_062152 VAR_062152 disease not phenotype-associated VAR_062153 commonName VAR_062153 VAR_062153 disease not phenotype-associated VAR_062154 commonName VAR_062154 VAR_062154 disease not phenotype-associated VAR_062155 commonName VAR_062155 VAR_062155 disease not phenotype-associated VAR_062156 commonName VAR_062156 VAR_062156 disease not phenotype-associated VAR_062157 commonName VAR_062157 VAR_062157 disease not phenotype-associated VAR_062158 commonName VAR_062158 VAR_062158 disease not phenotype-associated VAR_062160 commonName VAR_062160 VAR_062160 disease not phenotype-associated VAR_062161 commonName VAR_062161 VAR_062161 disease not phenotype-associated VAR_062162 commonName VAR_062162 VAR_062162 disease not phenotype-associated VAR_062163 commonName VAR_062163 VAR_062163 disease not phenotype-associated VAR_062164 commonName VAR_062164 VAR_062164 disease not phenotype-associated VAR_062165 commonName VAR_062165 VAR_062165 disease not phenotype-associated VAR_062166 commonName VAR_062166 VAR_062166 disease not phenotype-associated VAR_062167 commonName VAR_062167 VAR_062167 disease not phenotype-associated VAR_062168 commonName VAR_062168 VAR_062168 disease not phenotype-associated VAR_062169 commonName VAR_062169 VAR_062169 disease not phenotype-associated VAR_062170 commonName VAR_062170 VAR_062170 disease not phenotype-associated VAR_062171 commonName VAR_062171 VAR_062171 disease not phenotype-associated VAR_062172 commonName VAR_062172 VAR_062172 disease not phenotype-associated VAR_062173 commonName VAR_062173 VAR_062173 disease not phenotype-associated VAR_062174 commonName VAR_062174 VAR_062174 disease not phenotype-associated VAR_062175 commonName VAR_062175 VAR_062175 disease not phenotype-associated VAR_062177 commonName VAR_062177 VAR_062177 disease not phenotype-associated VAR_062181 commonName VAR_062181 VAR_062181 disease not phenotype-associated VAR_062182 commonName VAR_062182 VAR_062182 disease not phenotype-associated VAR_062183 commonName VAR_062183 VAR_062183 disease not phenotype-associated VAR_062184 commonName VAR_062184 VAR_062184 disease not phenotype-associated VAR_062185 commonName VAR_062185 VAR_062185 disease not phenotype-associated VAR_062186 commonName VAR_062186 VAR_062186 disease not phenotype-associated VAR_062187 commonName VAR_062187 VAR_062187 disease not phenotype-associated VAR_062188 commonName VAR_062188 VAR_062188 disease not phenotype-associated VAR_062189 commonName VAR_062189 VAR_062189 disease not phenotype-associated VAR_062190 commonName VAR_062190 VAR_062190 disease not phenotype-associated VAR_062191 commonName VAR_062191 VAR_062191 disease not phenotype-associated VAR_062192 commonName VAR_062192 VAR_062192 disease not phenotype-associated VAR_062193 commonName VAR_062193 VAR_062193 disease not phenotype-associated VAR_062194 commonName VAR_062194 VAR_062194 disease not phenotype-associated VAR_062195 commonName VAR_062195 VAR_062195 disease not phenotype-associated VAR_062196 commonName VAR_062196 VAR_062196 disease not phenotype-associated VAR_062197 commonName VAR_062197 VAR_062197 disease not phenotype-associated VAR_062198 commonName VAR_062198 VAR_062198 disease not phenotype-associated VAR_062199 commonName VAR_062199 VAR_062199 disease not phenotype-associated VAR_062201 commonName VAR_062201 VAR_062201 disease not phenotype-associated VAR_062202 commonName VAR_062202 VAR_062202 disease not phenotype-associated VAR_062203 commonName VAR_062203 VAR_062203 disease not phenotype-associated VAR_062204 commonName VAR_062204 VAR_062204 disease not phenotype-associated VAR_062205 commonName VAR_062205 VAR_062205 disease not phenotype-associated VAR_062206 commonName VAR_062206 VAR_062206 disease not phenotype-associated VAR_062208 commonName VAR_062208 VAR_062208 disease not phenotype-associated VAR_062209 commonName VAR_062209 VAR_062209 disease not phenotype-associated VAR_062210 commonName VAR_062210 VAR_062210 disease not phenotype-associated VAR_062211 commonName VAR_062211 VAR_062211 disease not phenotype-associated VAR_062212 commonName VAR_062212 VAR_062212 disease not phenotype-associated VAR_062213 commonName VAR_062213 VAR_062213 disease not phenotype-associated VAR_062215 commonName VAR_062215 VAR_062215 disease not phenotype-associated VAR_062216 commonName VAR_062216 VAR_062216 disease not phenotype-associated VAR_062217 commonName VAR_062217 VAR_062217 disease not phenotype-associated VAR_062218 commonName VAR_062218 VAR_062218 disease not phenotype-associated VAR_062219 commonName VAR_062219 VAR_062219 disease not phenotype-associated VAR_062220 commonName VAR_062220 VAR_062220 disease not phenotype-associated VAR_062221 commonName VAR_062221 VAR_062221 disease not phenotype-associated VAR_062222 commonName VAR_062222 VAR_062222 disease not phenotype-associated VAR_062223 commonName VAR_062223 VAR_062223 disease not phenotype-associated VAR_062224 commonName VAR_062224 VAR_062224 disease not phenotype-associated VAR_062225 commonName VAR_062225 VAR_062225 disease not phenotype-associated VAR_062226 commonName VAR_062226 VAR_062226 disease not phenotype-associated VAR_062227 commonName VAR_062227 VAR_062227 disease not phenotype-associated VAR_062228 commonName VAR_062228 VAR_062228 disease not phenotype-associated VAR_062229 commonName VAR_062229 VAR_062229 disease not phenotype-associated VAR_062230 commonName VAR_062230 VAR_062230 disease not phenotype-associated VAR_062231 commonName VAR_062231 VAR_062231 disease not phenotype-associated VAR_062233 commonName VAR_062233 VAR_062233 disease not phenotype-associated VAR_062234 commonName VAR_062234 VAR_062234 disease not phenotype-associated VAR_062235 commonName VAR_062235 VAR_062235 disease not phenotype-associated VAR_062236 commonName VAR_062236 VAR_062236 disease not phenotype-associated VAR_062237 commonName VAR_062237 VAR_062237 disease not phenotype-associated VAR_062238 commonName VAR_062238 VAR_062238 disease not phenotype-associated VAR_062241 commonName VAR_062241 VAR_062241 disease not phenotype-associated VAR_062243 commonName VAR_062243 VAR_062243 disease not phenotype-associated VAR_062244 commonName VAR_062244 VAR_062244 disease not phenotype-associated VAR_062245 commonName VAR_062245 VAR_062245 disease not phenotype-associated VAR_062246 commonName VAR_062246 VAR_062246 disease not phenotype-associated VAR_062247 commonName VAR_062247 VAR_062247 disease not phenotype-associated VAR_062248 commonName VAR_062248 VAR_062248 disease not phenotype-associated VAR_062249 commonName VAR_062249 VAR_062249 disease not phenotype-associated VAR_062250 commonName VAR_062250 VAR_062250 disease phenotype-associated VAR_062250 phenoCommon Mental retardation syndromic X-linked Siderius type (MRXSSD) [MIM:300263] VAR_062251 commonName VAR_062251 VAR_062251 disease not phenotype-associated VAR_062252 commonName VAR_062252 VAR_062252 disease not phenotype-associated VAR_062253 commonName VAR_062253 VAR_062253 disease not phenotype-associated VAR_062255 commonName VAR_062255 VAR_062255 disease not phenotype-associated VAR_062256 commonName VAR_062256 VAR_062256 disease not phenotype-associated VAR_062257 commonName VAR_062257 VAR_062257 disease not phenotype-associated VAR_062258 commonName VAR_062258 VAR_062258 disease not phenotype-associated VAR_062259 commonName VAR_062259 VAR_062259 disease phenotype-associated VAR_062259 phenoCommon Neutropenia severe congenital autosomal recessive type 3 (SCN3) [MIM:610738] VAR_062260 commonName VAR_062260 VAR_062260 disease not phenotype-associated VAR_062261 commonName VAR_062261 VAR_062261 disease not phenotype-associated VAR_062262 commonName VAR_062262 VAR_062262 disease not phenotype-associated VAR_062263 commonName VAR_062263 VAR_062263 disease not phenotype-associated VAR_062264 commonName VAR_062264 VAR_062264 disease not phenotype-associated VAR_062265 commonName VAR_062265 VAR_062265 disease not phenotype-associated VAR_062266 commonName VAR_062266 VAR_062266 disease not phenotype-associated VAR_062267 commonName VAR_062267 VAR_062267 disease not phenotype-associated VAR_062268 commonName VAR_062268 VAR_062268 disease not phenotype-associated VAR_062269 commonName VAR_062269 VAR_062269 disease not phenotype-associated VAR_062270 commonName VAR_062270 VAR_062270 disease not phenotype-associated VAR_062271 commonName VAR_062271 VAR_062271 disease not phenotype-associated VAR_062272 commonName VAR_062272 VAR_062272 disease not phenotype-associated VAR_062273 commonName VAR_062273 VAR_062273 disease not phenotype-associated VAR_062274 commonName VAR_062274 VAR_062274 disease not phenotype-associated VAR_062275 commonName VAR_062275 VAR_062275 disease not phenotype-associated VAR_062276 commonName VAR_062276 VAR_062276 disease not phenotype-associated VAR_062277 commonName VAR_062277 VAR_062277 disease not phenotype-associated VAR_062279 commonName VAR_062279 VAR_062279 disease not phenotype-associated VAR_062280 commonName VAR_062280 VAR_062280 disease phenotype-associated VAR_062280 phenoCommon Glycogen storage disease type 14 (GSD14) [MIM:612934] VAR_062281 commonName VAR_062281 VAR_062281 disease phenotype-associated VAR_062281 phenoCommon Visceral heterotaxy autosomal type 5 (HTX5) [MIM:270100] VAR_062282 commonName VAR_062282 VAR_062282 disease phenotype-associated VAR_062282 phenoCommon Visceral heterotaxy autosomal type 5 (HTX5) [MIM:270100] VAR_062283 commonName VAR_062283 VAR_062283 disease phenotype-associated VAR_062283 phenoCommon Visceral heterotaxy autosomal type 5 (HTX5) [MIM:270100] VAR_062284 commonName VAR_062284 VAR_062284 disease not phenotype-associated VAR_062285 commonName VAR_062285 VAR_062285 disease phenotype-associated VAR_062285 phenoCommon Hermansky-Pudlak syndrome type 5 (HPS5) [MIM:614074] VAR_062287 commonName VAR_062287 VAR_062287 disease not phenotype-associated VAR_062288 commonName VAR_062288 VAR_062288 disease phenotype-associated VAR_062288 phenoCommon Meckel syndrome type 1 (MKS1) [MIM:249000] VAR_062289 commonName VAR_062289 VAR_062289 disease not phenotype-associated VAR_062293 commonName VAR_062293 VAR_062293 disease phenotype-associated VAR_062293 phenoCommon Joubert syndrome type 9 (JBTS9) [MIM:612285] VAR_062293 phenoCommon Meckel syndrome type 6 (MKS6) [MIM:612284] VAR_062294 commonName VAR_062294 VAR_062294 disease phenotype-associated VAR_062294 phenoCommon Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100] VAR_062295 commonName VAR_062295 VAR_062295 disease not phenotype-associated VAR_062296 commonName VAR_062296 VAR_062296 disease phenotype-associated VAR_062296 phenoCommon Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100] VAR_062297 commonName VAR_062297 VAR_062298 commonName VAR_062298 VAR_062298 disease not phenotype-associated VAR_062299 commonName VAR_062299 VAR_062299 disease not phenotype-associated VAR_062300 commonName VAR_062300 VAR_062300 disease phenotype-associated VAR_062300 phenoCommon Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100] VAR_062301 commonName VAR_062301 VAR_062301 disease not phenotype-associated VAR_062302 commonName VAR_062302 VAR_062302 disease not phenotype-associated VAR_062303 commonName VAR_062303 VAR_062303 disease not phenotype-associated VAR_062304 commonName VAR_062304 VAR_062304 disease not phenotype-associated VAR_062305 commonName VAR_062305 VAR_062305 disease phenotype-associated VAR_062305 phenoCommon Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100] VAR_062306 commonName VAR_062306 VAR_062306 disease not phenotype-associated VAR_062307 commonName VAR_062307 VAR_062307 disease phenotype-associated VAR_062307 phenoCommon Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100] VAR_062308 commonName VAR_062308 VAR_062308 disease phenotype-associated VAR_062308 phenoCommon Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100] VAR_062309 commonName VAR_062309 VAR_062309 disease phenotype-associated VAR_062309 phenoCommon Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100] VAR_062310 commonName VAR_062310 VAR_062310 disease phenotype-associated VAR_062310 phenoCommon Meckel syndrome type 3 (MKS3) [MIM:607361] VAR_062311 commonName VAR_062311 VAR_062311 disease not phenotype-associated VAR_062312 commonName VAR_062312 VAR_062312 disease phenotype-associated VAR_062312 phenoCommon Meckel syndrome type 3 (MKS3) [MIM:607361] VAR_062313 commonName VAR_062313 VAR_062313 disease phenotype-associated VAR_062313 phenoCommon COACH syndrome (COACHS) [MIM:216360] VAR_062313 phenoCommon Meckel syndrome type 3 (MKS3) [MIM:607361] VAR_062314 commonName VAR_062314 VAR_062314 disease not phenotype-associated VAR_062315 commonName VAR_062315 VAR_062315 disease phenotype-associated VAR_062315 phenoCommon Meckel syndrome type 3 (MKS3) [MIM:607361] VAR_062316 commonName VAR_062316 VAR_062316 disease not phenotype-associated VAR_062317 commonName VAR_062317 VAR_062317 disease not phenotype-associated VAR_062318 commonName VAR_062318 VAR_062318 disease phenotype-associated VAR_062318 phenoCommon COACH syndrome (COACHS) [MIM:216360] VAR_062318 phenoCommon Meckel syndrome type 3 (MKS3) [MIM:607361] VAR_062319 commonName VAR_062319 VAR_062319 disease phenotype-associated VAR_062319 phenoCommon COACH syndrome (COACHS) [MIM:216360] VAR_062319 phenoCommon Meckel syndrome type 3 (MKS3) [MIM:607361] VAR_062319 phenoCommon Nephronophthisis type 11 (NPHP11) [MIM:613550] VAR_062320 commonName VAR_062320 VAR_062320 disease phenotype-associated VAR_062320 phenoCommon Meckel syndrome type 3 (MKS3) [MIM:607361] VAR_062321 commonName VAR_062321 VAR_062321 disease not phenotype-associated VAR_062322 commonName VAR_062322 VAR_062322 disease phenotype-associated VAR_062322 phenoCommon Neural tube defects (NTD) [MIM:182940] VAR_062323 commonName VAR_062323 VAR_062323 disease phenotype-associated VAR_062323 phenoCommon Neural tube defects (NTD) [MIM:182940] VAR_062324 commonName VAR_062324 VAR_062324 disease not phenotype-associated VAR_062325 commonName VAR_062325 VAR_062325 disease phenotype-associated VAR_062325 phenoCommon Neural tube defects (NTD) [MIM:182940] VAR_062326 commonName VAR_062326 VAR_062326 disease phenotype-associated VAR_062326 phenoCommon Neural tube defects (NTD) [MIM:182940] VAR_062327 commonName VAR_062327 VAR_062327 disease not phenotype-associated VAR_062328 commonName VAR_062328 VAR_062328 disease not phenotype-associated VAR_062329 commonName VAR_062329 VAR_062329 disease phenotype-associated VAR_062329 phenoCommon Neural tube defects (NTD) [MIM:182940] VAR_062330 commonName VAR_062330 VAR_062330 disease not phenotype-associated VAR_062331 commonName VAR_062331 VAR_062331 disease phenotype-associated VAR_062331 phenoCommon Metatropic dysplasia (MTD) [MIM:156530] VAR_062332 commonName VAR_062332 VAR_062332 disease phenotype-associated VAR_062332 phenoCommon Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252] VAR_062333 commonName VAR_062333 VAR_062333 disease phenotype-associated VAR_062333 phenoCommon Parastremmatic dwarfism (PSTD) [MIM:168400] VAR_062333 phenoCommon Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252] VAR_062334 commonName VAR_062334 VAR_062334 disease phenotype-associated VAR_062334 phenoCommon Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252] VAR_062335 commonName VAR_062335 VAR_062335 disease phenotype-associated VAR_062335 phenoCommon Metatropic dysplasia (MTD) [MIM:156530] VAR_062336 commonName VAR_062336 VAR_062336 disease phenotype-associated VAR_062336 phenoCommon Luteinizing hormone resistance (LHR) [MIM:238320] VAR_062337 commonName VAR_062337 VAR_062337 disease phenotype-associated VAR_062337 phenoCommon Luteinizing hormone resistance (LHR) [MIM:238320] VAR_062338 commonName VAR_062338 VAR_062338 disease phenotype-associated VAR_062338 phenoCommon Familial male precocious puberty (FMPP) [MIM:176410] VAR_062339 commonName VAR_062339 VAR_062339 disease phenotype-associated VAR_062339 phenoCommon Luteinizing hormone resistance (LHR) [MIM:238320] VAR_062340 commonName VAR_062340 VAR_062340 disease phenotype-associated VAR_062340 phenoCommon GM1-gangliosidosis type 3 (GM1G3) [MIM:230650] VAR_062341 commonName VAR_062341 VAR_062341 disease phenotype-associated VAR_062341 phenoCommon GM1-gangliosidosis type 2 (GM1G2) [MIM:230600] VAR_062342 commonName VAR_062342 VAR_062342 disease phenotype-associated VAR_062342 phenoCommon GM1-gangliosidosis type 3 (GM1G3) [MIM:230650] VAR_062343 commonName VAR_062343 VAR_062343 disease phenotype-associated VAR_062343 phenoCommon Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010] VAR_062344 commonName VAR_062344 VAR_062344 disease phenotype-associated VAR_062344 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_062345 commonName VAR_062345 VAR_062345 disease phenotype-associated VAR_062345 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_062346 commonName VAR_062346 VAR_062346 disease phenotype-associated VAR_062346 phenoCommon GM1-gangliosidosis type 3 (GM1G3) [MIM:230650] VAR_062347 commonName VAR_062347 VAR_062347 disease phenotype-associated VAR_062347 phenoCommon Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010] VAR_062348 commonName VAR_062348 VAR_062348 disease phenotype-associated VAR_062348 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_062349 commonName VAR_062349 VAR_062349 disease phenotype-associated VAR_062349 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_062350 commonName VAR_062350 VAR_062350 disease phenotype-associated VAR_062350 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_062351 commonName VAR_062351 VAR_062351 disease phenotype-associated VAR_062351 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_062352 commonName VAR_062352 VAR_062352 disease phenotype-associated VAR_062352 phenoCommon Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010] VAR_062353 commonName VAR_062353 VAR_062353 disease phenotype-associated VAR_062353 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_062354 commonName VAR_062354 VAR_062354 disease phenotype-associated VAR_062354 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_062355 commonName VAR_062355 VAR_062355 disease phenotype-associated VAR_062355 phenoCommon GM1-gangliosidosis type 2 (GM1G2) [MIM:230600] VAR_062356 commonName VAR_062356 VAR_062356 disease phenotype-associated VAR_062356 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_062357 commonName VAR_062357 VAR_062357 disease phenotype-associated VAR_062357 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_062358 commonName VAR_062358 VAR_062358 disease phenotype-associated VAR_062358 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_062359 commonName VAR_062359 VAR_062359 disease phenotype-associated VAR_062359 phenoCommon GM1-gangliosidosis type 2 (GM1G2) [MIM:230600] VAR_062360 commonName VAR_062360 VAR_062360 disease phenotype-associated VAR_062360 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_062361 commonName VAR_062361 VAR_062361 disease phenotype-associated VAR_062361 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_062362 commonName VAR_062362 VAR_062362 disease phenotype-associated VAR_062362 phenoCommon Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010] VAR_062363 commonName VAR_062363 VAR_062363 disease phenotype-associated VAR_062363 phenoCommon GM1-gangliosidosis type 3 (GM1G3) [MIM:230650] VAR_062364 commonName VAR_062364 VAR_062364 disease phenotype-associated VAR_062364 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_062365 commonName VAR_062365 VAR_062365 disease phenotype-associated VAR_062365 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_062366 commonName VAR_062366 VAR_062366 disease phenotype-associated VAR_062366 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_062367 commonName VAR_062367 VAR_062367 disease phenotype-associated VAR_062367 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_062368 commonName VAR_062368 VAR_062368 disease phenotype-associated VAR_062368 phenoCommon Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010] VAR_062369 commonName VAR_062369 VAR_062369 disease phenotype-associated VAR_062369 phenoCommon Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010] VAR_062370 commonName VAR_062370 VAR_062370 disease phenotype-associated VAR_062370 phenoCommon GM1-gangliosidosis type 1 (GM1G1) [MIM:230500] VAR_062371 commonName VAR_062371 VAR_062371 disease phenotype-associated VAR_062371 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_062372 commonName VAR_062372 VAR_062372 disease phenotype-associated VAR_062372 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_062373 commonName VAR_062373 VAR_062373 disease phenotype-associated VAR_062373 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_062374 commonName VAR_062374 VAR_062374 disease phenotype-associated VAR_062374 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_062375 commonName VAR_062375 VAR_062375 disease phenotype-associated VAR_062375 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_062376 commonName VAR_062376 VAR_062376 disease phenotype-associated VAR_062376 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_062377 commonName VAR_062377 VAR_062377 disease phenotype-associated VAR_062377 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_062378 commonName VAR_062378 VAR_062378 disease phenotype-associated VAR_062378 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_062379 commonName VAR_062379 VAR_062379 disease phenotype-associated VAR_062379 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_062380 commonName VAR_062380 VAR_062380 disease phenotype-associated VAR_062380 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_062381 commonName VAR_062381 VAR_062381 disease phenotype-associated VAR_062381 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_062382 commonName VAR_062382 VAR_062382 disease phenotype-associated VAR_062382 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_062384 commonName VAR_062384 VAR_062384 disease not phenotype-associated VAR_062386 commonName VAR_062386 VAR_062386 disease not phenotype-associated VAR_062387 commonName VAR_062387 VAR_062388 commonName VAR_062388 VAR_062388 disease not phenotype-associated VAR_062389 commonName VAR_062389 VAR_062389 disease not phenotype-associated VAR_062390 commonName VAR_062390 VAR_062390 disease not phenotype-associated VAR_062391 commonName VAR_062391 VAR_062391 disease not phenotype-associated VAR_062392 commonName VAR_062392 VAR_062392 disease not phenotype-associated VAR_062394 commonName VAR_062394 VAR_062394 disease phenotype-associated VAR_062394 phenoCommon Glycogen storage disease type 9A (GSD9A) [MIM:306000] VAR_062395 commonName VAR_062395 VAR_062395 disease phenotype-associated VAR_062395 phenoCommon Glycogen storage disease type 9A (GSD9A) [MIM:306000] VAR_062396 commonName VAR_062396 VAR_062396 disease phenotype-associated VAR_062396 phenoCommon Glycogen storage disease type 9A (GSD9A) [MIM:306000] VAR_062398 commonName VAR_062398 VAR_062398 disease phenotype-associated VAR_062398 phenoCommon Glycogen storage disease type 9A (GSD9A) [MIM:306000] VAR_062399 commonName VAR_062399 VAR_062399 disease phenotype-associated VAR_062399 phenoCommon Long QT syndrome type 12 (LQT12) [MIM:612955] VAR_062400 commonName VAR_062400 VAR_062400 disease phenotype-associated VAR_062400 phenoCommon Long QT syndrome type 12 (LQT12) [MIM:612955] VAR_062401 commonName VAR_062401 VAR_062401 disease phenotype-associated VAR_062401 phenoCommon Bronchiectasis with or without elevated sweat chloride type 1 (BESC1) [MIM:211400] VAR_062402 commonName VAR_062402 VAR_062402 disease phenotype-associated VAR_062402 phenoCommon Bronchiectasis with or without elevated sweat chloride type 1 (BESC1) [MIM:211400] VAR_062403 commonName VAR_062403 VAR_062403 disease phenotype-associated VAR_062403 phenoCommon Bronchiectasis with or without elevated sweat chloride type 1 (BESC1) [MIM:211400] VAR_062404 commonName VAR_062404 VAR_062404 disease phenotype-associated VAR_062404 phenoCommon Bronchiectasis with or without elevated sweat chloride type 1 (BESC1) [MIM:211400] VAR_062405 commonName VAR_062405 VAR_062405 disease phenotype-associated VAR_062405 phenoCommon Bronchiectasis with or without elevated sweat chloride type 1 (BESC1) [MIM:211400] VAR_062406 commonName VAR_062406 VAR_062406 disease phenotype-associated VAR_062406 phenoCommon Bronchiectasis with or without elevated sweat chloride type 1 (BESC1) [MIM:211400] VAR_062407 commonName VAR_062407 VAR_062407 disease phenotype-associated VAR_062407 phenoCommon Bronchiectasis with or without elevated sweat chloride type 1 (BESC1) [MIM:211400] VAR_062408 commonName VAR_062408 VAR_062408 disease phenotype-associated VAR_062408 phenoCommon Cone dystrophy type 4 (COD4) [MIM:613093] VAR_062409 commonName VAR_062409 VAR_062409 disease phenotype-associated VAR_062409 phenoCommon Cone dystrophy type 4 (COD4) [MIM:613093] VAR_062410 commonName VAR_062410 VAR_062410 disease phenotype-associated VAR_062410 phenoCommon Cone dystrophy type 4 (COD4) [MIM:613093] VAR_062411 commonName VAR_062411 VAR_062411 disease not phenotype-associated VAR_062412 commonName VAR_062412 VAR_062412 disease phenotype-associated VAR_062412 phenoCommon Postaxial acrofacial dysostosis (POADS) [MIM:263750] VAR_062413 commonName VAR_062413 VAR_062413 disease phenotype-associated VAR_062413 phenoCommon Postaxial acrofacial dysostosis (POADS) [MIM:263750] VAR_062414 commonName VAR_062414 VAR_062414 disease phenotype-associated VAR_062414 phenoCommon Postaxial acrofacial dysostosis (POADS) [MIM:263750] VAR_062415 commonName VAR_062415 VAR_062415 disease phenotype-associated VAR_062415 phenoCommon Postaxial acrofacial dysostosis (POADS) [MIM:263750] VAR_062416 commonName VAR_062416 VAR_062416 disease phenotype-associated VAR_062416 phenoCommon Postaxial acrofacial dysostosis (POADS) [MIM:263750] VAR_062417 commonName VAR_062417 VAR_062417 disease phenotype-associated VAR_062417 phenoCommon Postaxial acrofacial dysostosis (POADS) [MIM:263750] VAR_062418 commonName VAR_062418 VAR_062418 disease phenotype-associated VAR_062418 phenoCommon Postaxial acrofacial dysostosis (POADS) [MIM:263750] VAR_062419 commonName VAR_062419 VAR_062419 disease phenotype-associated VAR_062419 phenoCommon Postaxial acrofacial dysostosis (POADS) [MIM:263750] VAR_062420 commonName VAR_062420 VAR_062420 disease phenotype-associated VAR_062420 phenoCommon Postaxial acrofacial dysostosis (POADS) [MIM:263750] VAR_062421 commonName VAR_062421 VAR_062421 disease phenotype-associated VAR_062421 phenoCommon Postaxial acrofacial dysostosis (POADS) [MIM:263750] VAR_062422 commonName VAR_062422 VAR_062422 disease not phenotype-associated VAR_062423 commonName VAR_062423 VAR_062423 disease not phenotype-associated VAR_062424 commonName VAR_062424 VAR_062424 disease phenotype-associated VAR_062424 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062425 commonName VAR_062425 VAR_062425 disease phenotype-associated VAR_062425 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062426 commonName VAR_062426 VAR_062426 disease phenotype-associated VAR_062426 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062427 commonName VAR_062427 VAR_062427 disease phenotype-associated VAR_062427 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062428 commonName VAR_062428 VAR_062428 disease phenotype-associated VAR_062428 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062429 commonName VAR_062429 VAR_062429 disease phenotype-associated VAR_062429 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062430 commonName VAR_062430 VAR_062430 disease phenotype-associated VAR_062430 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062431 commonName VAR_062431 VAR_062431 disease phenotype-associated VAR_062431 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062432 commonName VAR_062432 VAR_062432 disease phenotype-associated VAR_062432 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062433 commonName VAR_062433 VAR_062433 disease phenotype-associated VAR_062433 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062434 commonName VAR_062434 VAR_062434 disease phenotype-associated VAR_062434 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062435 commonName VAR_062435 VAR_062435 disease phenotype-associated VAR_062435 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062436 commonName VAR_062436 VAR_062436 disease phenotype-associated VAR_062436 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062437 commonName VAR_062437 VAR_062437 disease phenotype-associated VAR_062437 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062438 commonName VAR_062438 VAR_062438 disease phenotype-associated VAR_062438 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062439 commonName VAR_062439 VAR_062439 disease phenotype-associated VAR_062439 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062440 commonName VAR_062440 VAR_062440 disease phenotype-associated VAR_062440 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062441 commonName VAR_062441 VAR_062441 disease phenotype-associated VAR_062441 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062442 commonName VAR_062442 VAR_062442 disease phenotype-associated VAR_062442 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062443 commonName VAR_062443 VAR_062443 disease phenotype-associated VAR_062443 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062444 commonName VAR_062444 VAR_062444 disease phenotype-associated VAR_062444 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062445 commonName VAR_062445 VAR_062445 disease phenotype-associated VAR_062445 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062446 commonName VAR_062446 VAR_062446 disease phenotype-associated VAR_062446 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062447 commonName VAR_062447 VAR_062447 disease phenotype-associated VAR_062447 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062448 commonName VAR_062448 VAR_062448 disease phenotype-associated VAR_062448 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062449 commonName VAR_062449 VAR_062449 disease phenotype-associated VAR_062449 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062450 commonName VAR_062450 VAR_062450 disease phenotype-associated VAR_062450 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062451 commonName VAR_062451 VAR_062451 disease phenotype-associated VAR_062451 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062452 commonName VAR_062452 VAR_062452 disease phenotype-associated VAR_062452 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062453 commonName VAR_062453 VAR_062453 disease phenotype-associated VAR_062453 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062454 commonName VAR_062454 VAR_062454 disease phenotype-associated VAR_062454 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062455 commonName VAR_062455 VAR_062455 disease phenotype-associated VAR_062455 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062456 commonName VAR_062456 VAR_062456 disease phenotype-associated VAR_062456 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062457 commonName VAR_062457 VAR_062457 disease phenotype-associated VAR_062457 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062458 commonName VAR_062458 VAR_062458 disease phenotype-associated VAR_062458 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062459 commonName VAR_062459 VAR_062459 disease phenotype-associated VAR_062459 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062460 commonName VAR_062460 VAR_062460 disease phenotype-associated VAR_062460 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062461 commonName VAR_062461 VAR_062461 disease phenotype-associated VAR_062461 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062462 commonName VAR_062462 VAR_062462 disease phenotype-associated VAR_062462 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062463 commonName VAR_062463 VAR_062463 disease phenotype-associated VAR_062463 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062464 commonName VAR_062464 VAR_062464 disease phenotype-associated VAR_062464 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062465 commonName VAR_062465 VAR_062465 disease phenotype-associated VAR_062465 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062466 commonName VAR_062466 VAR_062466 disease phenotype-associated VAR_062466 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062467 commonName VAR_062467 VAR_062467 disease phenotype-associated VAR_062467 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062468 commonName VAR_062468 VAR_062468 disease phenotype-associated VAR_062468 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062469 commonName VAR_062469 VAR_062469 disease phenotype-associated VAR_062469 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062470 commonName VAR_062470 VAR_062470 disease phenotype-associated VAR_062470 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062471 commonName VAR_062471 VAR_062471 disease phenotype-associated VAR_062471 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062472 commonName VAR_062472 VAR_062472 disease phenotype-associated VAR_062472 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062473 commonName VAR_062473 VAR_062473 disease phenotype-associated VAR_062473 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062474 commonName VAR_062474 VAR_062474 disease phenotype-associated VAR_062474 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062475 commonName VAR_062475 VAR_062475 disease phenotype-associated VAR_062475 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062476 commonName VAR_062476 VAR_062476 disease phenotype-associated VAR_062476 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062477 commonName VAR_062477 VAR_062477 disease phenotype-associated VAR_062477 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062478 commonName VAR_062478 VAR_062478 disease phenotype-associated VAR_062478 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062479 commonName VAR_062479 VAR_062479 disease phenotype-associated VAR_062479 phenoCommon Nemaline myopathy type 3 (NEM3) [MIM:161800] VAR_062480 commonName VAR_062480 VAR_062480 disease phenotype-associated VAR_062480 phenoCommon Bowen-Conradi syndrome (BWCNS) [MIM:211180] VAR_062481 commonName VAR_062481 VAR_062481 disease not phenotype-associated VAR_062482 commonName VAR_062482 VAR_062482 disease phenotype-associated VAR_062482 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] VAR_062483 commonName VAR_062483 VAR_062483 disease not phenotype-associated VAR_062484 commonName VAR_062484 VAR_062484 disease not phenotype-associated VAR_062485 commonName VAR_062485 VAR_062485 disease phenotype-associated VAR_062485 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] VAR_062486 commonName VAR_062486 VAR_062487 commonName VAR_062487 VAR_062487 disease phenotype-associated VAR_062487 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] VAR_062488 commonName VAR_062488 VAR_062489 commonName VAR_062489 VAR_062489 disease not phenotype-associated VAR_062490 commonName VAR_062490 VAR_062491 commonName VAR_062491 VAR_062491 disease phenotype-associated VAR_062491 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] VAR_062492 commonName VAR_062492 VAR_062492 disease not phenotype-associated VAR_062493 commonName VAR_062493 VAR_062493 disease phenotype-associated VAR_062493 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] VAR_062494 commonName VAR_062494 VAR_062494 disease not phenotype-associated VAR_062495 commonName VAR_062495 VAR_062496 commonName VAR_062496 VAR_062496 disease not phenotype-associated VAR_062497 commonName VAR_062497 VAR_062497 disease phenotype-associated VAR_062497 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] VAR_062498 commonName VAR_062498 VAR_062499 commonName VAR_062499 VAR_062500 commonName VAR_062500 VAR_062501 commonName VAR_062501 VAR_062501 disease phenotype-associated VAR_062501 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] VAR_062502 commonName VAR_062502 VAR_062502 disease phenotype-associated VAR_062502 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] VAR_062503 commonName VAR_062503 VAR_062503 disease phenotype-associated VAR_062503 phenoCommon High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091] VAR_062504 commonName VAR_062504 VAR_062504 disease phenotype-associated VAR_062504 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] VAR_062505 commonName VAR_062505 VAR_062506 commonName VAR_062506 VAR_062507 commonName VAR_062507 VAR_062507 disease phenotype-associated VAR_062507 phenoCommon High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400] VAR_062508 commonName VAR_062508 VAR_062508 disease not phenotype-associated VAR_062509 commonName VAR_062509 VAR_062510 commonName VAR_062510 VAR_062510 disease phenotype-associated VAR_062510 phenoCommon Odonto-onycho-dermal dysplasia (OODD) [MIM:257980] VAR_062511 commonName VAR_062511 VAR_062511 disease phenotype-associated VAR_062511 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900] VAR_062511 phenoCommon Odonto-onycho-dermal dysplasia (OODD) [MIM:257980] VAR_062512 commonName VAR_062512 VAR_062512 disease not phenotype-associated VAR_062513 commonName VAR_062513 VAR_062514 commonName VAR_062514 VAR_062514 disease not phenotype-associated VAR_062515 commonName VAR_062515 VAR_062515 disease not phenotype-associated VAR_062516 commonName VAR_062516 VAR_062516 disease phenotype-associated VAR_062516 phenoCommon Split-hand/foot malformation type 6 (SHFM6) [MIM:225300] VAR_062517 commonName VAR_062517 VAR_062518 commonName VAR_062518 VAR_062518 disease phenotype-associated VAR_062518 phenoCommon Congenital disorder of glycosylation type 1O (CDG1O) [MIM:612937] VAR_062519 commonName VAR_062519 VAR_062519 disease phenotype-associated VAR_062519 phenoCommon Atrial septal defect type 6 (ASD6) [MIM:613087] VAR_062520 commonName VAR_062520 VAR_062520 disease phenotype-associated VAR_062520 phenoCommon Atrial septal defect type 6 (ASD6) [MIM:613087] VAR_062521 commonName VAR_062521 VAR_062521 disease phenotype-associated VAR_062521 phenoCommon Atrial septal defect type 6 (ASD6) [MIM:613087] VAR_062522 commonName VAR_062522 VAR_062522 disease not phenotype-associated VAR_062523 commonName VAR_062523 VAR_062524 commonName VAR_062524 VAR_062525 commonName VAR_062525 VAR_062525 disease not phenotype-associated VAR_062526 commonName VAR_062526 VAR_062526 disease not phenotype-associated VAR_062527 commonName VAR_062527 VAR_062527 disease not phenotype-associated VAR_062528 commonName VAR_062528 VAR_062528 disease not phenotype-associated VAR_062529 commonName VAR_062529 VAR_062529 disease phenotype-associated VAR_062529 phenoCommon Brugada syndrome type 7 (BRGDA7) [MIM:613120] VAR_062530 commonName VAR_062530 VAR_062530 disease phenotype-associated VAR_062530 phenoCommon Parkinson disease type 14 (PARK14) [MIM:612953] VAR_062531 commonName VAR_062531 VAR_062531 disease phenotype-associated VAR_062531 phenoCommon Parkinson disease type 14 (PARK14) [MIM:612953] VAR_062532 commonName VAR_062532 VAR_062532 disease phenotype-associated VAR_062532 phenoCommon Cataract cortical age-related type 2 (ARCC2) [MIM:613020] VAR_062533 commonName VAR_062533 VAR_062533 disease not phenotype-associated VAR_062534 commonName VAR_062534 VAR_062534 disease not phenotype-associated VAR_062535 commonName VAR_062535 VAR_062536 commonName VAR_062536 VAR_062537 commonName VAR_062537 VAR_062538 commonName VAR_062538 VAR_062538 disease phenotype-associated VAR_062538 phenoCommon Dyskeratosis congenita autosomal recessive type 4 (DKCB4) [MIM:613989] VAR_062539 commonName VAR_062539 VAR_062540 commonName VAR_062540 VAR_062540 disease phenotype-associated VAR_062540 phenoCommon Dyskeratosis congenita autosomal recessive type 4 (DKCB4) [MIM:613989] VAR_062541 commonName VAR_062541 VAR_062541 disease phenotype-associated VAR_062541 phenoCommon Dyskeratosis congenita autosomal recessive type 4 (DKCB4) [MIM:613989] VAR_062542 commonName VAR_062542 VAR_062542 disease phenotype-associated VAR_062542 phenoCommon Dyskeratosis congenita autosomal dominant type 2 (DKCA2) [MIM:613989] VAR_062543 commonName VAR_062543 VAR_062545 commonName VAR_062545 VAR_062545 disease phenotype-associated VAR_062545 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] VAR_062546 commonName VAR_062546 VAR_062546 disease phenotype-associated VAR_062546 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] VAR_062547 commonName VAR_062547 VAR_062547 disease phenotype-associated VAR_062547 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] VAR_062548 comment Granulosa-cell tumors of the ovary VAR_062548 commonName VAR_062548 VAR_062549 commonName VAR_062549 VAR_062549 disease phenotype-associated VAR_062549 phenoCommon Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100] VAR_062551 commonName VAR_062551 VAR_062551 disease phenotype-associated VAR_062551 phenoCommon Fabry disease (FD) [MIM:301500] VAR_062552 commonName VAR_062552 VAR_062552 disease phenotype-associated VAR_062552 phenoCommon Fabry disease (FD) [MIM:301500] VAR_062553 commonName VAR_062553 VAR_062553 disease phenotype-associated VAR_062553 phenoCommon Fabry disease (FD) [MIM:301500] VAR_062554 commonName VAR_062554 VAR_062554 disease phenotype-associated VAR_062554 phenoCommon Fabry disease (FD) [MIM:301500] VAR_062555 commonName VAR_062555 VAR_062555 disease phenotype-associated VAR_062555 phenoCommon Fabry disease (FD) [MIM:301500] VAR_062556 commonName VAR_062556 VAR_062556 disease phenotype-associated VAR_062556 phenoCommon Fabry disease (FD) [MIM:301500] VAR_062557 commonName VAR_062557 VAR_062557 disease phenotype-associated VAR_062557 phenoCommon Fabry disease (FD) [MIM:301500] VAR_062558 commonName VAR_062558 VAR_062558 disease phenotype-associated VAR_062558 phenoCommon Fabry disease (FD) [MIM:301500] VAR_062559 commonName VAR_062559 VAR_062559 disease phenotype-associated VAR_062559 phenoCommon Fabry disease (FD) [MIM:301500] VAR_062560 commonName VAR_062560 VAR_062560 disease phenotype-associated VAR_062560 phenoCommon Fabry disease (FD) [MIM:301500] VAR_062561 commonName VAR_062561 VAR_062561 disease phenotype-associated VAR_062561 phenoCommon Fabry disease (FD) [MIM:301500] VAR_062562 commonName VAR_062562 VAR_062562 disease phenotype-associated VAR_062562 phenoCommon Fabry disease (FD) [MIM:301500] VAR_062563 commonName VAR_062563 VAR_062563 disease phenotype-associated VAR_062563 phenoCommon Fabry disease (FD) [MIM:301500] VAR_062564 commonName VAR_062564 VAR_062564 disease phenotype-associated VAR_062564 phenoCommon Fabry disease (FD) [MIM:301500] VAR_062565 commonName VAR_062565 VAR_062565 disease phenotype-associated VAR_062565 phenoCommon Fabry disease (FD) [MIM:301500] VAR_062566 commonName VAR_062566 VAR_062566 disease phenotype-associated VAR_062566 phenoCommon Fabry disease (FD) [MIM:301500] VAR_062567 commonName VAR_062567 VAR_062567 disease phenotype-associated VAR_062567 phenoCommon Fabry disease (FD) [MIM:301500] VAR_062568 commonName VAR_062568 VAR_062568 disease phenotype-associated VAR_062568 phenoCommon Fabry disease (FD) [MIM:301500] VAR_062569 commonName VAR_062569 VAR_062569 disease phenotype-associated VAR_062569 phenoCommon Fabry disease (FD) [MIM:301500] VAR_062570 commonName VAR_062570 VAR_062570 disease phenotype-associated VAR_062570 phenoCommon Fabry disease (FD) [MIM:301500] VAR_062571 commonName VAR_062571 VAR_062571 disease phenotype-associated VAR_062571 phenoCommon Fabry disease (FD) [MIM:301500] VAR_062572 commonName VAR_062572 VAR_062572 disease phenotype-associated VAR_062572 phenoCommon Congenital disorder of glycosylation type 1N (CDG1N) [MIM:612015] VAR_062573 commonName VAR_062573 VAR_062573 disease phenotype-associated VAR_062573 phenoCommon Congenital disorder of glycosylation type 1N (CDG1N) [MIM:612015] VAR_062574 commonName VAR_062574 VAR_062574 disease phenotype-associated VAR_062574 phenoCommon Charcot-Marie-Tooth disease type 2M (CMT2M) [MIM:606482] VAR_062575 commonName VAR_062575 VAR_062575 disease phenotype-associated VAR_062575 phenoCommon Charcot-Marie-Tooth disease type 2M (CMT2M) [MIM:606482] VAR_062576 commonName VAR_062576 VAR_062576 disease phenotype-associated VAR_062576 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150] VAR_062577 commonName VAR_062577 VAR_062577 disease phenotype-associated VAR_062577 phenoCommon Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788] VAR_062578 commonName VAR_062578 VAR_062578 disease phenotype-associated VAR_062578 phenoCommon Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788] VAR_062579 commonName VAR_062579 VAR_062579 disease phenotype-associated VAR_062579 phenoCommon Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788] VAR_062580 commonName VAR_062580 VAR_062580 disease phenotype-associated VAR_062580 phenoCommon Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788] VAR_062581 commonName VAR_062581 VAR_062581 disease phenotype-associated VAR_062581 phenoCommon Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788] VAR_062582 commonName VAR_062582 VAR_062583 commonName VAR_062583 VAR_062584 commonName VAR_062584 VAR_062584 disease phenotype-associated VAR_062584 phenoCommon Anterior segment mesenchymal dysgenesis (ASMD) [MIM:107250] VAR_062585 commonName VAR_062585 VAR_062585 disease phenotype-associated VAR_062585 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] VAR_062586 commonName VAR_062586 VAR_062586 disease phenotype-associated VAR_062586 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] VAR_062587 commonName VAR_062587 VAR_062587 disease phenotype-associated VAR_062587 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] VAR_062588 commonName VAR_062588 VAR_062588 disease phenotype-associated VAR_062588 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] VAR_062589 commonName VAR_062589 VAR_062589 disease phenotype-associated VAR_062589 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] VAR_062590 commonName VAR_062590 VAR_062590 disease phenotype-associated VAR_062590 phenoCommon Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800] VAR_062591 commonName VAR_062591 VAR_062591 disease phenotype-associated VAR_062591 phenoCommon Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800] VAR_062592 commonName VAR_062592 VAR_062592 disease phenotype-associated VAR_062592 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062593 commonName VAR_062593 VAR_062593 disease phenotype-associated VAR_062593 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062594 commonName VAR_062594 VAR_062594 disease phenotype-associated VAR_062594 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062595 commonName VAR_062595 VAR_062595 disease phenotype-associated VAR_062595 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062596 commonName VAR_062596 VAR_062596 disease phenotype-associated VAR_062596 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062597 commonName VAR_062597 VAR_062597 disease phenotype-associated VAR_062597 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062598 commonName VAR_062598 VAR_062598 disease phenotype-associated VAR_062598 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062599 commonName VAR_062599 VAR_062599 disease phenotype-associated VAR_062599 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062600 commonName VAR_062600 VAR_062600 disease phenotype-associated VAR_062600 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062601 commonName VAR_062601 VAR_062601 disease phenotype-associated VAR_062601 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062602 commonName VAR_062602 VAR_062602 disease phenotype-associated VAR_062602 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062603 commonName VAR_062603 VAR_062603 disease phenotype-associated VAR_062603 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062604 commonName VAR_062604 VAR_062604 disease phenotype-associated VAR_062604 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062605 commonName VAR_062605 VAR_062605 disease phenotype-associated VAR_062605 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062606 commonName VAR_062606 VAR_062606 disease phenotype-associated VAR_062606 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062607 commonName VAR_062607 VAR_062607 disease phenotype-associated VAR_062607 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062608 commonName VAR_062608 VAR_062608 disease phenotype-associated VAR_062608 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062609 commonName VAR_062609 VAR_062609 disease phenotype-associated VAR_062609 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062610 commonName VAR_062610 VAR_062610 disease phenotype-associated VAR_062610 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062611 commonName VAR_062611 VAR_062611 disease phenotype-associated VAR_062611 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062612 commonName VAR_062612 VAR_062612 disease phenotype-associated VAR_062612 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062613 commonName VAR_062613 VAR_062613 disease phenotype-associated VAR_062613 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062615 commonName VAR_062615 VAR_062615 disease phenotype-associated VAR_062615 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062616 commonName VAR_062616 VAR_062616 disease phenotype-associated VAR_062616 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062617 commonName VAR_062617 VAR_062617 disease phenotype-associated VAR_062617 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062618 commonName VAR_062618 VAR_062618 disease phenotype-associated VAR_062618 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062619 commonName VAR_062619 VAR_062619 disease phenotype-associated VAR_062619 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062620 commonName VAR_062620 VAR_062620 disease phenotype-associated VAR_062620 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062621 commonName VAR_062621 VAR_062621 disease phenotype-associated VAR_062621 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062622 commonName VAR_062622 VAR_062622 disease phenotype-associated VAR_062622 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062623 commonName VAR_062623 VAR_062623 disease phenotype-associated VAR_062623 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062624 commonName VAR_062624 VAR_062624 disease phenotype-associated VAR_062624 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062625 commonName VAR_062625 VAR_062625 disease phenotype-associated VAR_062625 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062626 commonName VAR_062626 VAR_062626 disease phenotype-associated VAR_062626 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062627 commonName VAR_062627 VAR_062627 disease phenotype-associated VAR_062627 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062628 commonName VAR_062628 VAR_062628 disease phenotype-associated VAR_062628 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062629 commonName VAR_062629 VAR_062629 disease phenotype-associated VAR_062629 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062630 commonName VAR_062630 VAR_062630 disease phenotype-associated VAR_062630 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062631 commonName VAR_062631 VAR_062631 disease phenotype-associated VAR_062631 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062632 commonName VAR_062632 VAR_062632 disease phenotype-associated VAR_062632 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062633 commonName VAR_062633 VAR_062633 disease phenotype-associated VAR_062633 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062634 commonName VAR_062634 VAR_062634 disease phenotype-associated VAR_062634 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062635 commonName VAR_062635 VAR_062635 disease phenotype-associated VAR_062635 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062636 commonName VAR_062636 VAR_062636 disease phenotype-associated VAR_062636 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062637 commonName VAR_062637 VAR_062637 disease phenotype-associated VAR_062637 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062638 commonName VAR_062638 VAR_062638 disease phenotype-associated VAR_062638 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062639 commonName VAR_062639 VAR_062639 disease phenotype-associated VAR_062639 phenoCommon Holoprosencephaly type 3 (HPE3) [MIM:142945] VAR_062649 commonName VAR_062649 VAR_062649 disease phenotype-associated VAR_062649 phenoCommon Urocanase deficiency (UROD) [MIM:276880] VAR_062651 commonName VAR_062651 VAR_062651 disease phenotype-associated VAR_062651 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] VAR_062652 commonName VAR_062652 VAR_062652 disease phenotype-associated VAR_062652 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] VAR_062653 commonName VAR_062653 VAR_062653 disease phenotype-associated VAR_062653 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] VAR_062654 commonName VAR_062654 VAR_062654 disease phenotype-associated VAR_062654 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] VAR_062655 commonName VAR_062655 VAR_062655 disease phenotype-associated VAR_062655 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] VAR_062656 commonName VAR_062656 VAR_062656 disease phenotype-associated VAR_062656 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] VAR_062657 commonName VAR_062657 VAR_062657 disease phenotype-associated VAR_062657 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] VAR_062658 commonName VAR_062658 VAR_062658 disease phenotype-associated VAR_062658 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] VAR_062659 commonName VAR_062659 VAR_062659 disease phenotype-associated VAR_062659 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] VAR_062660 commonName VAR_062660 VAR_062660 disease phenotype-associated VAR_062660 phenoCommon Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700] VAR_062662 comment A pancreatic ductal adenocarcinoma sample VAR_062662 commonName VAR_062662 VAR_062663 comment A pancreatic ductal adenocarcinoma sample VAR_062663 commonName VAR_062663 VAR_062664 comment A pancreatic ductal adenocarcinoma sample VAR_062664 commonName VAR_062664 VAR_062665 comment A pancreatic ductal adenocarcinoma sample VAR_062665 commonName VAR_062665 VAR_062666 comment A pancreatic ductal adenocarcinoma sample VAR_062666 commonName VAR_062666 VAR_062667 comment A pancreatic ductal adenocarcinoma sample VAR_062667 commonName VAR_062667 VAR_062668 comment A pancreatic ductal adenocarcinoma sample VAR_062668 commonName VAR_062668 VAR_062669 comment A pancreatic ductal adenocarcinoma sample VAR_062669 commonName VAR_062669 VAR_062671 commonName VAR_062671 VAR_062671 disease not phenotype-associated VAR_062674 commonName VAR_062674 VAR_062674 disease phenotype-associated VAR_062674 phenoCommon Mental retardation syndromic X-linked ZDHHC9-related (MRXSZ) [MIM:300799] VAR_062675 commonName VAR_062675 VAR_062675 disease phenotype-associated VAR_062675 phenoCommon Mental retardation syndromic X-linked ZDHHC9-related (MRXSZ) [MIM:300799] VAR_062676 commonName VAR_062676 VAR_062676 disease not phenotype-associated VAR_062677 commonName VAR_062677 VAR_062677 disease not phenotype-associated VAR_062678 commonName VAR_062678 VAR_062678 disease not phenotype-associated VAR_062758 commonName VAR_062758 VAR_062758 disease phenotype-associated VAR_062758 phenoCommon Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638] VAR_062759 commonName VAR_062759 VAR_062759 disease phenotype-associated VAR_062759 phenoCommon Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638] VAR_062760 commonName VAR_062760 VAR_062760 disease phenotype-associated VAR_062760 phenoCommon Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638] VAR_062761 commonName VAR_062761 VAR_062761 disease phenotype-associated VAR_062761 phenoCommon Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638] VAR_062766 commonName VAR_062766 VAR_062766 disease not phenotype-associated VAR_062767 commonName VAR_062767 VAR_062767 disease phenotype-associated VAR_062767 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] VAR_062768 commonName VAR_062768 VAR_062769 commonName VAR_062769 VAR_062770 commonName VAR_062770 VAR_062771 commonName VAR_062771 VAR_062772 commonName VAR_062772 VAR_062773 commonName VAR_062773 VAR_062773 disease phenotype-associated VAR_062773 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909] VAR_062774 commonName VAR_062774 VAR_062774 disease phenotype-associated VAR_062774 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909] VAR_062775 commonName VAR_062775 VAR_062775 disease phenotype-associated VAR_062775 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909] VAR_062776 commonName VAR_062776 VAR_062776 disease phenotype-associated VAR_062776 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909] VAR_062777 commonName VAR_062777 VAR_062777 disease phenotype-associated VAR_062777 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909] VAR_062778 commonName VAR_062778 VAR_062778 disease phenotype-associated VAR_062778 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909] VAR_062779 commonName VAR_062779 VAR_062779 disease phenotype-associated VAR_062779 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909] VAR_062780 commonName VAR_062780 VAR_062781 commonName VAR_062781 VAR_062782 commonName VAR_062782 VAR_062783 commonName VAR_062783 VAR_062784 commonName VAR_062784 VAR_062786 commonName VAR_062786 VAR_062786 disease phenotype-associated VAR_062786 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] VAR_062787 commonName VAR_062787 VAR_062787 disease phenotype-associated VAR_062787 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] VAR_062788 commonName VAR_062788 VAR_062788 disease phenotype-associated VAR_062788 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] VAR_062791 commonName VAR_062791 VAR_062791 disease phenotype-associated VAR_062791 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] VAR_062792 commonName VAR_062792 VAR_062792 disease phenotype-associated VAR_062792 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] VAR_062793 commonName VAR_062793 VAR_062793 disease phenotype-associated VAR_062793 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] VAR_062795 commonName VAR_062795 VAR_062795 disease phenotype-associated VAR_062795 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] VAR_062796 commonName VAR_062796 VAR_062796 disease phenotype-associated VAR_062796 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] VAR_062797 commonName VAR_062797 VAR_062797 disease phenotype-associated VAR_062797 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] VAR_062798 commonName VAR_062798 VAR_062798 disease phenotype-associated VAR_062798 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] VAR_062799 commonName VAR_062799 VAR_062799 disease phenotype-associated VAR_062799 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] VAR_062800 commonName VAR_062800 VAR_062800 disease phenotype-associated VAR_062800 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] VAR_062801 commonName VAR_062801 VAR_062801 disease phenotype-associated VAR_062801 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] VAR_062802 commonName VAR_062802 VAR_062802 disease phenotype-associated VAR_062802 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] VAR_062803 commonName VAR_062803 VAR_062803 disease phenotype-associated VAR_062803 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] VAR_062804 commonName VAR_062804 VAR_062804 disease phenotype-associated VAR_062804 phenoCommon Joubert syndrome type 9 (JBTS9) [MIM:612285] VAR_062805 commonName VAR_062805 VAR_062805 disease not phenotype-associated VAR_062806 commonName VAR_062806 VAR_062806 disease phenotype-associated VAR_062806 phenoCommon Joubert syndrome type 9 (JBTS9) [MIM:612285] VAR_062807 commonName VAR_062807 VAR_062807 disease phenotype-associated VAR_062807 phenoCommon Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] VAR_062808 commonName VAR_062808 VAR_062808 disease phenotype-associated VAR_062808 phenoCommon Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] VAR_062809 commonName VAR_062809 VAR_062809 disease phenotype-associated VAR_062809 phenoCommon Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] VAR_062810 commonName VAR_062810 VAR_062810 disease phenotype-associated VAR_062810 phenoCommon Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] VAR_062811 commonName VAR_062811 VAR_062811 disease phenotype-associated VAR_062811 phenoCommon Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] VAR_062812 commonName VAR_062812 VAR_062812 disease phenotype-associated VAR_062812 phenoCommon Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] VAR_062813 commonName VAR_062813 VAR_062813 disease phenotype-associated VAR_062813 phenoCommon Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] VAR_062814 commonName VAR_062814 VAR_062814 disease phenotype-associated VAR_062814 phenoCommon Mucolipidosis type II (MLII) [MIM:252500] VAR_062815 commonName VAR_062815 VAR_062815 disease phenotype-associated VAR_062815 phenoCommon Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] VAR_062816 commonName VAR_062816 VAR_062816 disease not phenotype-associated VAR_062817 commonName VAR_062817 VAR_062817 disease not phenotype-associated VAR_062850 commonName VAR_062850 VAR_062850 disease not phenotype-associated VAR_062851 commonName VAR_062851 VAR_062851 disease not phenotype-associated VAR_062852 commonName VAR_062852 VAR_062852 disease not phenotype-associated VAR_062853 commonName VAR_062853 VAR_062853 disease not phenotype-associated VAR_062854 commonName VAR_062854 VAR_062854 disease not phenotype-associated VAR_062855 commonName VAR_062855 VAR_062855 disease not phenotype-associated VAR_062856 commonName VAR_062856 VAR_062857 commonName VAR_062857 VAR_062857 disease not phenotype-associated VAR_062858 commonName VAR_062858 VAR_062858 disease not phenotype-associated VAR_062860 commonName VAR_062860 VAR_062860 disease not phenotype-associated VAR_062861 commonName VAR_062861 VAR_062862 commonName VAR_062862 VAR_062862 disease not phenotype-associated VAR_062863 commonName VAR_062863 VAR_062863 disease not phenotype-associated VAR_062864 commonName VAR_062864 VAR_062864 disease not phenotype-associated VAR_062865 commonName VAR_062865 VAR_062865 disease not phenotype-associated VAR_062954 commonName VAR_062954 VAR_062954 disease not phenotype-associated VAR_062955 commonName VAR_062955 VAR_062955 disease not phenotype-associated VAR_062956 commonName VAR_062956 VAR_062956 disease not phenotype-associated VAR_062957 commonName VAR_062957 VAR_062957 disease not phenotype-associated VAR_062958 commonName VAR_062958 VAR_062958 disease not phenotype-associated VAR_062959 commonName VAR_062959 VAR_062959 disease not phenotype-associated VAR_062960 commonName VAR_062960 VAR_062960 disease not phenotype-associated VAR_062962 commonName VAR_062962 VAR_062962 disease not phenotype-associated VAR_062963 commonName VAR_062963 VAR_062963 disease not phenotype-associated VAR_062964 commonName VAR_062964 VAR_062964 disease phenotype-associated VAR_062964 phenoCommon Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900] VAR_062965 commonName VAR_062965 VAR_062965 disease phenotype-associated VAR_062965 phenoCommon Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900] VAR_062966 commonName VAR_062966 VAR_062966 disease not phenotype-associated VAR_062967 commonName VAR_062967 VAR_062967 disease phenotype-associated VAR_062967 phenoCommon Premature ovarian failure type 7 (POF7) [MIM:612964] VAR_062967 phenoCommon Spermatogenic failure type 8 (SPGF8) [MIM:613957] VAR_062968 commonName VAR_062968 VAR_062968 disease phenotype-associated VAR_062968 phenoCommon Premature ovarian failure type 7 (POF7) [MIM:612964] VAR_062968 phenoCommon Spermatogenic failure type 8 (SPGF8) [MIM:613957] VAR_062970 commonName VAR_062970 VAR_062970 disease phenotype-associated VAR_062970 phenoCommon Premature ovarian failure type 7 (POF7) [MIM:612964] VAR_062971 commonName VAR_062971 VAR_062971 disease not phenotype-associated VAR_062972 commonName VAR_062972 VAR_062972 disease not phenotype-associated VAR_062973 commonName VAR_062973 VAR_062973 disease not phenotype-associated VAR_062974 commonName VAR_062974 VAR_062974 disease phenotype-associated VAR_062974 phenoCommon Emery-Dreifuss muscular dystrophy type 4 (EDMD4) [MIM:612998] VAR_062975 commonName VAR_062975 VAR_062975 disease phenotype-associated VAR_062975 phenoCommon Emery-Dreifuss muscular dystrophy type 4 (EDMD4) [MIM:612998] VAR_062976 commonName VAR_062976 VAR_062976 disease phenotype-associated VAR_062976 phenoCommon Emery-Dreifuss muscular dystrophy type 4 (EDMD4) [MIM:612998] VAR_062977 commonName VAR_062977 VAR_062977 disease phenotype-associated VAR_062977 phenoCommon Emery-Dreifuss muscular dystrophy type 5 (EDMD5) [MIM:612999] VAR_062978 commonName VAR_062978 VAR_062978 disease phenotype-associated VAR_062978 phenoCommon The Mitchell-Riley syndrome (MIRIS) [MIM:601346] VAR_062979 commonName VAR_062979 VAR_062979 disease phenotype-associated VAR_062979 phenoCommon The Mitchell-Riley syndrome (MIRIS) [MIM:601346] VAR_062980 commonName VAR_062980 VAR_062980 disease phenotype-associated VAR_062980 phenoCommon Desbuquois dysplasia (DBQD) [MIM:251450] VAR_062981 commonName VAR_062981 VAR_062981 disease phenotype-associated VAR_062981 phenoCommon Desbuquois dysplasia (DBQD) [MIM:251450] VAR_062982 commonName VAR_062982 VAR_062982 disease phenotype-associated VAR_062982 phenoCommon Desbuquois dysplasia (DBQD) [MIM:251450] VAR_062983 commonName VAR_062983 VAR_062983 disease not phenotype-associated VAR_062984 commonName VAR_062984 VAR_062984 disease not phenotype-associated VAR_062985 commonName VAR_062985 VAR_062985 disease not phenotype-associated VAR_062990 commonName VAR_062990 VAR_062991 commonName VAR_062991 VAR_062991 disease not phenotype-associated VAR_062992 commonName VAR_062992 VAR_062993 commonName VAR_062993 VAR_062993 disease not phenotype-associated VAR_062994 commonName VAR_062994 VAR_062995 commonName VAR_062995 VAR_062996 commonName VAR_062996 VAR_062996 disease phenotype-associated VAR_062996 phenoCommon Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749] VAR_062997 commonName VAR_062997 VAR_062997 disease phenotype-associated VAR_062997 phenoCommon Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749] VAR_062998 commonName VAR_062998 VAR_062998 disease phenotype-associated VAR_062998 phenoCommon Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749] VAR_062999 commonName VAR_062999 VAR_062999 disease phenotype-associated VAR_062999 phenoCommon Thrombophilia due to factor IX defect (THPH8) [MIM:300807] VAR_063000 commonName VAR_063000 VAR_063000 disease phenotype-associated VAR_063000 phenoCommon Thrombophilia due to histidine-rich glycoprotein deficiency (THPH11) [MIM:613116] VAR_063001 commonName VAR_063001 VAR_063001 disease phenotype-associated VAR_063001 phenoCommon Thrombophilia due to histidine-rich glycoprotein deficiency (THPH11) [MIM:613116] VAR_063009 commonName VAR_063009 VAR_063009 disease phenotype-associated VAR_063009 phenoCommon Cardiomyopathy dilated type 1CC (CMD1CC) [MIM:613122] VAR_063011 commonName VAR_063011 VAR_063011 disease phenotype-associated VAR_063011 phenoCommon Cardiomyopathy dilated type 1CC (CMD1CC) [MIM:613122] VAR_063012 commonName VAR_063012 VAR_063012 disease phenotype-associated VAR_063012 phenoCommon Joubert syndrome type 1 (JBTS1) [MIM:213300] VAR_063013 commonName VAR_063013 VAR_063013 disease phenotype-associated VAR_063013 phenoCommon Joubert syndrome type 1 (JBTS1) [MIM:213300] VAR_063014 commonName VAR_063014 VAR_063014 disease phenotype-associated VAR_063014 phenoCommon Joubert syndrome type 1 (JBTS1) [MIM:213300] VAR_063015 commonName VAR_063015 VAR_063015 disease phenotype-associated VAR_063015 phenoCommon Joubert syndrome type 1 (JBTS1) [MIM:213300] VAR_063016 commonName VAR_063016 VAR_063016 disease phenotype-associated VAR_063016 phenoCommon Joubert syndrome type 1 (JBTS1) [MIM:213300] VAR_063017 commonName VAR_063017 VAR_063017 disease phenotype-associated VAR_063017 phenoCommon Joubert syndrome type 1 (JBTS1) [MIM:213300] VAR_063018 commonName VAR_063018 VAR_063018 disease phenotype-associated VAR_063018 phenoCommon Galactosialidosis (GSL) [MIM:256540] VAR_063019 commonName VAR_063019 VAR_063019 disease phenotype-associated VAR_063019 phenoCommon Galactosialidosis (GSL) [MIM:256540] VAR_063020 commonName VAR_063020 VAR_063020 disease phenotype-associated VAR_063020 phenoCommon Galactosialidosis (GSL) [MIM:256540] VAR_063021 commonName VAR_063021 VAR_063021 disease phenotype-associated VAR_063021 phenoCommon Galactosialidosis (GSL) [MIM:256540] VAR_063022 commonName VAR_063022 VAR_063022 disease phenotype-associated VAR_063022 phenoCommon Galactosialidosis (GSL) [MIM:256540] VAR_063023 commonName VAR_063023 VAR_063023 disease phenotype-associated VAR_063023 phenoCommon Galactosialidosis (GSL) [MIM:256540] VAR_063024 commonName VAR_063024 VAR_063024 disease phenotype-associated VAR_063024 phenoCommon Klippel-Feil syndrome type 1 (KFS1) [MIM:118100] VAR_063025 commonName VAR_063025 VAR_063025 disease phenotype-associated VAR_063025 phenoCommon Microphthalmia isolated type 4 (MCOP4) [MIM:613094] VAR_063026 commonName VAR_063026 VAR_063026 disease phenotype-associated VAR_063026 phenoCommon Microphthalmia isolated type 4 (MCOP4) [MIM:613094] VAR_063027 commonName VAR_063027 VAR_063027 disease phenotype-associated VAR_063027 phenoCommon Microphthalmia isolated type 4 (MCOP4) [MIM:613094] VAR_063028 commonName VAR_063028 VAR_063028 disease phenotype-associated VAR_063028 phenoCommon Microphthalmia isolated type 4 (MCOP4) [MIM:613094] VAR_063029 commonName VAR_063029 VAR_063029 disease phenotype-associated VAR_063029 phenoCommon Klippel-Feil syndrome type 1 (KFS1) [MIM:118100] VAR_063030 commonName VAR_063030 VAR_063030 disease not phenotype-associated VAR_063031 commonName VAR_063031 VAR_063031 disease not phenotype-associated VAR_063032 commonName VAR_063032 VAR_063032 disease not phenotype-associated VAR_063033 commonName VAR_063033 VAR_063033 disease not phenotype-associated VAR_063034 commonName VAR_063034 VAR_063034 disease phenotype-associated VAR_063034 phenoCommon Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700] VAR_063039 commonName VAR_063039 VAR_063039 disease not phenotype-associated VAR_063040 commonName VAR_063040 VAR_063040 disease not phenotype-associated VAR_063049 commonName VAR_063049 VAR_063049 disease phenotype-associated VAR_063049 phenoCommon Spondyloepimetaphyseal dysplasia Pakistani type (SEMD-PA) [MIM:612847] VAR_063050 commonName VAR_063050 VAR_063050 disease phenotype-associated VAR_063050 phenoCommon Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665] VAR_063051 commonName VAR_063051 VAR_063051 disease phenotype-associated VAR_063051 phenoCommon Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665] VAR_063052 commonName VAR_063052 VAR_063052 disease phenotype-associated VAR_063052 phenoCommon Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665] VAR_063054 commonName VAR_063054 VAR_063054 disease phenotype-associated VAR_063054 phenoCommon Ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205] VAR_063055 commonName VAR_063055 VAR_063055 disease phenotype-associated VAR_063055 phenoCommon Ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205] VAR_063056 commonName VAR_063056 VAR_063056 disease phenotype-associated VAR_063056 phenoCommon Ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205] VAR_063057 commonName VAR_063057 VAR_063057 disease phenotype-associated VAR_063057 phenoCommon Ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205] VAR_063058 commonName VAR_063058 VAR_063058 disease phenotype-associated VAR_063058 phenoCommon Ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205] VAR_063059 commonName VAR_063059 VAR_063059 disease phenotype-associated VAR_063059 phenoCommon Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780] VAR_063060 commonName VAR_063060 VAR_063060 disease phenotype-associated VAR_063060 phenoCommon Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780] VAR_063061 commonName VAR_063061 VAR_063061 disease phenotype-associated VAR_063061 phenoCommon Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780] VAR_063062 commonName VAR_063062 VAR_063062 disease phenotype-associated VAR_063062 phenoCommon Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780] VAR_063063 commonName VAR_063063 VAR_063063 disease phenotype-associated VAR_063063 phenoCommon Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780] VAR_063064 commonName VAR_063064 VAR_063064 disease phenotype-associated VAR_063064 phenoCommon Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780] VAR_063065 commonName VAR_063065 VAR_063065 disease phenotype-associated VAR_063065 phenoCommon Hereditary neutrophilia (NEUTROPHILIA) [MIM:162830] VAR_063066 commonName VAR_063066 VAR_063069 commonName VAR_063069 VAR_063069 disease phenotype-associated VAR_063069 phenoCommon Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496] VAR_063070 commonName VAR_063070 VAR_063070 disease phenotype-associated VAR_063070 phenoCommon Familial hypertrophic cardiomyopathy type 13 (CMH13) [MIM:613243] VAR_063071 commonName VAR_063071 VAR_063071 disease phenotype-associated VAR_063071 phenoCommon Familial hypertrophic cardiomyopathy type 13 (CMH13) [MIM:613243] VAR_063072 commonName VAR_063072 VAR_063072 disease phenotype-associated VAR_063072 phenoCommon Familial hypertrophic cardiomyopathy type 13 (CMH13) [MIM:613243] VAR_063073 commonName VAR_063073 VAR_063073 disease phenotype-associated VAR_063073 phenoCommon Familial hypertrophic cardiomyopathy type 13 (CMH13) [MIM:613243] VAR_063074 commonName VAR_063074 VAR_063074 disease phenotype-associated VAR_063074 phenoCommon Bartter syndrome type 4B (BS4B) [MIM:613090] VAR_063075 commonName VAR_063075 VAR_063075 disease phenotype-associated VAR_063075 phenoCommon Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237] VAR_063076 commonName VAR_063076 VAR_063076 disease phenotype-associated VAR_063076 phenoCommon Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237] VAR_063077 commonName VAR_063077 VAR_063077 disease phenotype-associated VAR_063077 phenoCommon Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237] VAR_063078 commonName VAR_063078 VAR_063078 disease phenotype-associated VAR_063078 phenoCommon Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237] VAR_063079 commonName VAR_063079 VAR_063079 disease phenotype-associated VAR_063079 phenoCommon Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237] VAR_063080 commonName VAR_063080 VAR_063080 disease phenotype-associated VAR_063080 phenoCommon Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237] VAR_063081 commonName VAR_063081 VAR_063081 disease phenotype-associated VAR_063081 phenoCommon Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237] VAR_063082 commonName VAR_063082 VAR_063082 disease phenotype-associated VAR_063082 phenoCommon Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237] VAR_063083 commonName VAR_063083 VAR_063083 disease phenotype-associated VAR_063083 phenoCommon Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237] VAR_063084 commonName VAR_063084 VAR_063084 disease phenotype-associated VAR_063084 phenoCommon Autoimmune lymphoproliferative syndrome type 4 (ALPS4) [MIM:614470] VAR_063085 commonName VAR_063085 VAR_063085 disease phenotype-associated VAR_063085 phenoCommon Noonan syndrome type 6 (NS6) [MIM:613224] VAR_063086 commonName VAR_063086 VAR_063086 disease phenotype-associated VAR_063086 phenoCommon Noonan syndrome type 6 (NS6) [MIM:613224] VAR_063087 commonName VAR_063087 VAR_063087 disease not phenotype-associated VAR_063088 commonName VAR_063088 VAR_063088 disease not phenotype-associated VAR_063089 commonName VAR_063089 VAR_063089 disease phenotype-associated VAR_063089 phenoCommon Myopathy myofibrillar type 6 (MFM6) [MIM:612954] VAR_063090 commonName VAR_063090 VAR_063090 disease not phenotype-associated VAR_063091 commonName VAR_063091 VAR_063091 disease not phenotype-associated VAR_063092 commonName VAR_063092 VAR_063092 disease phenotype-associated VAR_063092 phenoCommon Cardiomyopathy dilated type 1DD (CMD1DD) [MIM:613172] VAR_063093 commonName VAR_063093 VAR_063093 disease phenotype-associated VAR_063093 phenoCommon Cardiomyopathy dilated type 1DD (CMD1DD) [MIM:613172] VAR_063094 commonName VAR_063094 VAR_063094 disease phenotype-associated VAR_063094 phenoCommon Cardiomyopathy dilated type 1DD (CMD1DD) [MIM:613172] VAR_063095 commonName VAR_063095 VAR_063095 disease phenotype-associated VAR_063095 phenoCommon Cardiomyopathy dilated type 1DD (CMD1DD) [MIM:613172] VAR_063096 commonName VAR_063096 VAR_063096 disease phenotype-associated VAR_063096 phenoCommon Cardiomyopathy dilated type 1DD (CMD1DD) [MIM:613172] VAR_063098 commonName VAR_063098 VAR_063098 disease phenotype-associated VAR_063098 phenoCommon Primary ciliary dyskinesia type 13 (CILD13) [MIM:613193] VAR_063100 commonName VAR_063100 VAR_063100 disease phenotype-associated VAR_063100 phenoCommon Keratoconus type 1 (KTCN1) [MIM:148300] VAR_063101 commonName VAR_063101 VAR_063101 disease not phenotype-associated VAR_063102 commonName VAR_063102 VAR_063102 disease not phenotype-associated VAR_063103 commonName VAR_063103 VAR_063103 disease not phenotype-associated VAR_063105 commonName VAR_063105 VAR_063105 disease not phenotype-associated VAR_063107 commonName VAR_063107 VAR_063107 disease not phenotype-associated VAR_063108 commonName VAR_063108 VAR_063108 disease not phenotype-associated VAR_063110 commonName VAR_063110 VAR_063110 disease not phenotype-associated VAR_063111 commonName VAR_063111 VAR_063111 disease not phenotype-associated VAR_063112 commonName VAR_063112 VAR_063112 disease not phenotype-associated VAR_063113 commonName VAR_063113 VAR_063113 disease not phenotype-associated VAR_063114 commonName VAR_063114 VAR_063114 disease not phenotype-associated VAR_063115 commonName VAR_063115 VAR_063115 disease not phenotype-associated VAR_063116 commonName VAR_063116 VAR_063116 disease not phenotype-associated VAR_063117 commonName VAR_063117 VAR_063117 disease not phenotype-associated VAR_063118 commonName VAR_063118 VAR_063118 disease not phenotype-associated VAR_063120 commonName VAR_063120 VAR_063120 disease not phenotype-associated VAR_063121 commonName VAR_063121 VAR_063121 disease not phenotype-associated VAR_063122 commonName VAR_063122 VAR_063122 disease not phenotype-associated VAR_063123 commonName VAR_063123 VAR_063123 disease not phenotype-associated VAR_063124 commonName VAR_063124 VAR_063124 disease not phenotype-associated VAR_063126 commonName VAR_063126 VAR_063126 disease not phenotype-associated VAR_063127 commonName VAR_063127 VAR_063127 disease not phenotype-associated VAR_063128 commonName VAR_063128 VAR_063128 disease not phenotype-associated VAR_063129 commonName VAR_063129 VAR_063129 disease not phenotype-associated VAR_063130 commonName VAR_063130 VAR_063130 disease not phenotype-associated VAR_063131 commonName VAR_063131 VAR_063131 disease not phenotype-associated VAR_063132 commonName VAR_063132 VAR_063132 disease not phenotype-associated VAR_063133 commonName VAR_063133 VAR_063133 disease not phenotype-associated VAR_063134 commonName VAR_063134 VAR_063134 disease not phenotype-associated VAR_063135 commonName VAR_063135 VAR_063135 disease not phenotype-associated VAR_063136 commonName VAR_063136 VAR_063136 disease not phenotype-associated VAR_063137 commonName VAR_063137 VAR_063137 disease not phenotype-associated VAR_063138 commonName VAR_063138 VAR_063138 disease not phenotype-associated VAR_063139 commonName VAR_063139 VAR_063139 disease not phenotype-associated VAR_063140 commonName VAR_063140 VAR_063140 disease not phenotype-associated VAR_063141 commonName VAR_063141 VAR_063141 disease not phenotype-associated VAR_063144 commonName VAR_063144 VAR_063144 disease not phenotype-associated VAR_063145 commonName VAR_063145 VAR_063145 disease not phenotype-associated VAR_063146 commonName VAR_063146 VAR_063147 commonName VAR_063147 VAR_063147 disease phenotype-associated VAR_063147 phenoCommon Hemangioma capillary infantile (HCI) [MIM:602089] VAR_063148 commonName VAR_063148 VAR_063148 disease phenotype-associated VAR_063148 phenoCommon Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) [MIM:600142] VAR_063149 commonName VAR_063149 VAR_063149 disease phenotype-associated VAR_063149 phenoCommon Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) [MIM:600142] VAR_063150 commonName VAR_063150 VAR_063150 disease phenotype-associated VAR_063150 phenoCommon Pleuropulmonary blastoma (PPB) [MIM:601200] VAR_063151 commonName VAR_063151 VAR_063151 disease not phenotype-associated VAR_063152 commonName VAR_063152 VAR_063152 disease not phenotype-associated VAR_063153 commonName VAR_063153 VAR_063153 disease not phenotype-associated VAR_063154 commonName VAR_063154 VAR_063154 disease not phenotype-associated VAR_063155 commonName VAR_063155 VAR_063155 disease not phenotype-associated VAR_063156 commonName VAR_063156 VAR_063156 disease not phenotype-associated VAR_063157 commonName VAR_063157 VAR_063157 disease not phenotype-associated VAR_063159 commonName VAR_063159 VAR_063159 disease not phenotype-associated VAR_063160 commonName VAR_063160 VAR_063160 disease phenotype-associated VAR_063160 phenoCommon Deafness autosomal recessive type 25 (DFNB25) [MIM:613285] VAR_063161 commonName VAR_063161 VAR_063161 disease not phenotype-associated VAR_063162 commonName VAR_063162 VAR_063162 disease phenotype-associated VAR_063162 phenoCommon Deafness autosomal recessive type 25 (DFNB25) [MIM:613285] VAR_063163 commonName VAR_063163 VAR_063163 disease not phenotype-associated VAR_063164 commonName VAR_063164 VAR_063164 disease phenotype-associated VAR_063164 phenoCommon Deafness autosomal recessive type 25 (DFNB25) [MIM:613285] VAR_063165 commonName VAR_063165 VAR_063165 disease phenotype-associated VAR_063165 phenoCommon Deafness autosomal recessive type 25 (DFNB25) [MIM:613285] VAR_063169 commonName VAR_063169 VAR_063169 disease phenotype-associated VAR_063169 phenoCommon Retinitis pigmentosa type 50 (RP50) [MIM:613194] VAR_063170 commonName VAR_063170 VAR_063170 disease phenotype-associated VAR_063170 phenoCommon Retinitis pigmentosa type 50 (RP50) [MIM:613194] VAR_063171 commonName VAR_063171 VAR_063171 disease phenotype-associated VAR_063171 phenoCommon Retinitis pigmentosa type 50 (RP50) [MIM:613194] VAR_063172 commonName VAR_063172 VAR_063172 disease phenotype-associated VAR_063172 phenoCommon Spastic paraplegia autosomal recessive type 44 (SPG44) [MIM:613206] VAR_063173 commonName VAR_063173 VAR_063173 disease not phenotype-associated VAR_063174 commonName VAR_063174 VAR_063174 disease phenotype-associated VAR_063174 phenoCommon Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216] VAR_063175 commonName VAR_063175 VAR_063175 disease phenotype-associated VAR_063175 phenoCommon Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216] VAR_063176 commonName VAR_063176 VAR_063176 disease phenotype-associated VAR_063176 phenoCommon Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216] VAR_063177 commonName VAR_063177 VAR_063177 disease phenotype-associated VAR_063177 phenoCommon Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216] VAR_063178 commonName VAR_063178 VAR_063178 disease phenotype-associated VAR_063178 phenoCommon Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216] VAR_063179 commonName VAR_063179 VAR_063179 disease not phenotype-associated VAR_063180 commonName VAR_063180 VAR_063180 disease phenotype-associated VAR_063180 phenoCommon Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216] VAR_063181 commonName VAR_063181 VAR_063181 disease phenotype-associated VAR_063181 phenoCommon Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216] VAR_063182 commonName VAR_063182 VAR_063182 disease phenotype-associated VAR_063182 phenoCommon Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216] VAR_063183 commonName VAR_063183 VAR_063183 disease phenotype-associated VAR_063183 phenoCommon Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216] VAR_063184 commonName VAR_063184 VAR_063184 disease phenotype-associated VAR_063184 phenoCommon Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216] VAR_063185 commonName VAR_063185 VAR_063185 disease phenotype-associated VAR_063185 phenoCommon Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216] VAR_063186 commonName VAR_063186 VAR_063187 commonName VAR_063187 VAR_063187 disease phenotype-associated VAR_063187 phenoCommon Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216] VAR_063188 commonName VAR_063188 VAR_063188 disease not phenotype-associated VAR_063189 commonName VAR_063189 VAR_063189 disease not phenotype-associated VAR_063190 commonName VAR_063190 VAR_063190 disease not phenotype-associated VAR_063191 commonName VAR_063191 VAR_063192 commonName VAR_063192 VAR_063192 disease phenotype-associated VAR_063192 phenoCommon Ichthyosis prematurity syndrome (IPS) [MIM:608649] VAR_063193 commonName VAR_063193 VAR_063193 disease phenotype-associated VAR_063193 phenoCommon Ichthyosis prematurity syndrome (IPS) [MIM:608649] VAR_063194 commonName VAR_063194 VAR_063194 disease phenotype-associated VAR_063194 phenoCommon Ichthyosis prematurity syndrome (IPS) [MIM:608649] VAR_063195 commonName VAR_063195 VAR_063195 disease phenotype-associated VAR_063195 phenoCommon Ichthyosis prematurity syndrome (IPS) [MIM:608649] VAR_063196 commonName VAR_063196 VAR_063197 commonName VAR_063197 VAR_063198 commonName VAR_063198 VAR_063198 disease not phenotype-associated VAR_063199 commonName VAR_063199 VAR_063199 disease not phenotype-associated VAR_063200 commonName VAR_063200 VAR_063200 disease not phenotype-associated VAR_063201 commonName VAR_063201 VAR_063202 commonName VAR_063202 VAR_063202 disease not phenotype-associated VAR_063203 commonName VAR_063203 VAR_063203 disease not phenotype-associated VAR_063204 commonName VAR_063204 VAR_063204 disease not phenotype-associated VAR_063205 commonName VAR_063205 VAR_063206 commonName VAR_063206 VAR_063207 commonName VAR_063207 VAR_063207 disease not phenotype-associated VAR_063208 commonName VAR_063208 VAR_063208 disease not phenotype-associated VAR_063209 commonName VAR_063209 VAR_063210 commonName VAR_063210 VAR_063210 disease not phenotype-associated VAR_063211 commonName VAR_063211 VAR_063211 disease not phenotype-associated VAR_063213 commonName VAR_063213 VAR_063213 disease phenotype-associated VAR_063213 phenoCommon Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925] VAR_063214 commonName VAR_063214 VAR_063214 disease phenotype-associated VAR_063214 phenoCommon Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925] VAR_063215 commonName VAR_063215 VAR_063215 disease phenotype-associated VAR_063215 phenoCommon Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925] VAR_063216 commonName VAR_063216 VAR_063216 disease phenotype-associated VAR_063216 phenoCommon Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925] VAR_063217 commonName VAR_063217 VAR_063217 disease phenotype-associated VAR_063217 phenoCommon Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925] VAR_063218 commonName VAR_063218 VAR_063218 disease phenotype-associated VAR_063218 phenoCommon Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925] VAR_063219 commonName VAR_063219 VAR_063219 disease phenotype-associated VAR_063219 phenoCommon Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925] VAR_063220 commonName VAR_063220 VAR_063220 disease phenotype-associated VAR_063220 phenoCommon Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925] VAR_063223 commonName VAR_063223 VAR_063223 disease phenotype-associated VAR_063223 phenoCommon Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926] VAR_063224 commonName VAR_063224 VAR_063224 disease phenotype-associated VAR_063224 phenoCommon Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926] VAR_063226 commonName VAR_063226 VAR_063226 disease phenotype-associated VAR_063226 phenoCommon Frontonasal dysplasia type 1 (FND1) [MIM:136760] VAR_063227 commonName VAR_063227 VAR_063227 disease phenotype-associated VAR_063227 phenoCommon Frontonasal dysplasia type 1 (FND1) [MIM:136760] VAR_063228 commonName VAR_063228 VAR_063228 disease phenotype-associated VAR_063228 phenoCommon Frontonasal dysplasia type 1 (FND1) [MIM:136760] VAR_063229 commonName VAR_063229 VAR_063229 disease phenotype-associated VAR_063229 phenoCommon Frontonasal dysplasia type 1 (FND1) [MIM:136760] VAR_063230 commonName VAR_063230 VAR_063230 disease phenotype-associated VAR_063230 phenoCommon Pituitary hormone deficiency combined type 5 (CPHD5) [MIM:182230] VAR_063231 commonName VAR_063231 VAR_063231 disease phenotype-associated VAR_063231 phenoCommon Pituitary hormone deficiency combined type 5 (CPHD5) [MIM:182230] VAR_063232 commonName VAR_063232 VAR_063232 disease phenotype-associated VAR_063232 phenoCommon Growth hormone deficiency with pituitary anomalies (GHDPA) [MIM:182230] VAR_063233 commonName VAR_063233 VAR_063233 disease phenotype-associated VAR_063233 phenoCommon Septooptic dysplasia (SOD) [MIM:182230] VAR_063234 commonName VAR_063234 VAR_063234 disease phenotype-associated VAR_063234 phenoCommon Growth hormone deficiency with pituitary anomalies (GHDPA) [MIM:182230] VAR_063235 commonName VAR_063235 VAR_063235 disease phenotype-associated VAR_063235 phenoCommon Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600] VAR_063236 commonName VAR_063236 VAR_063236 disease phenotype-associated VAR_063236 phenoCommon Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600] VAR_063237 commonName VAR_063237 VAR_063237 disease phenotype-associated VAR_063237 phenoCommon Familial progressive hyperpigmentation (FPH) [MIM:145250] VAR_063238 commonName VAR_063238 VAR_063238 disease not phenotype-associated VAR_063239 commonName VAR_063239 VAR_063239 disease not phenotype-associated VAR_063240 commonName VAR_063240 VAR_063240 disease phenotype-associated VAR_063240 phenoCommon Pituitary hormone deficiency combined type 3 (CPHD3) [MIM:221750] VAR_063241 commonName VAR_063241 VAR_063241 disease phenotype-associated VAR_063241 phenoCommon Pituitary hormone deficiency combined type 4 (CPHD4) [MIM:262700] VAR_063242 commonName VAR_063242 VAR_063242 disease phenotype-associated VAR_063242 phenoCommon Short rib-polydactyly syndrome type 3 (SRPS3) [MIM:263510] VAR_063243 commonName VAR_063243 VAR_063243 disease phenotype-associated VAR_063243 phenoCommon Short rib-polydactyly syndrome type 3 (SRPS3) [MIM:263510] VAR_063244 commonName VAR_063244 VAR_063244 disease phenotype-associated VAR_063244 phenoCommon Asphyxiating thoracic dystrophy type 3 (ATD3) [MIM:613091] VAR_063245 commonName VAR_063245 VAR_063245 disease phenotype-associated VAR_063245 phenoCommon Asphyxiating thoracic dystrophy type 3 (ATD3) [MIM:613091] VAR_063246 commonName VAR_063246 VAR_063246 disease phenotype-associated VAR_063246 phenoCommon Short rib-polydactyly syndrome type 3 (SRPS3) [MIM:263510] VAR_063247 commonName VAR_063247 VAR_063247 disease phenotype-associated VAR_063247 phenoCommon Asphyxiating thoracic dystrophy type 3 (ATD3) [MIM:613091] VAR_063248 commonName VAR_063248 VAR_063248 disease phenotype-associated VAR_063248 phenoCommon Short rib-polydactyly syndrome type 3 (SRPS3) [MIM:263510] VAR_063249 commonName VAR_063249 VAR_063249 disease phenotype-associated VAR_063249 phenoCommon Short rib-polydactyly syndrome type 3 (SRPS3) [MIM:263510] VAR_063250 commonName VAR_063250 VAR_063250 disease phenotype-associated VAR_063250 phenoCommon Asphyxiating thoracic dystrophy type 3 (ATD3) [MIM:613091] VAR_063251 commonName VAR_063251 VAR_063251 disease phenotype-associated VAR_063251 phenoCommon Asphyxiating thoracic dystrophy type 3 (ATD3) [MIM:613091] VAR_063252 commonName VAR_063252 VAR_063252 disease phenotype-associated VAR_063252 phenoCommon Growth retardation developmental delay coarse facies and early death (GDFD) [MIM:612938] VAR_063253 commonName VAR_063253 VAR_063253 disease phenotype-associated VAR_063253 phenoCommon Global cerebral hypomyelination (GCHM) [MIM:612949] VAR_063254 commonName VAR_063254 VAR_063254 disease phenotype-associated VAR_063254 phenoCommon Multiple synostoses syndrome type 3 (SYNS3) [MIM:612961] VAR_063255 commonName VAR_063255 VAR_063255 disease phenotype-associated VAR_063255 phenoCommon 46,XY sex reversal type 3 (SRXY3) [MIM:612965] VAR_063256 commonName VAR_063256 VAR_063256 disease phenotype-associated VAR_063256 phenoCommon 46,XY sex reversal type 3 (SRXY3) [MIM:612965] VAR_063257 commonName VAR_063257 VAR_063257 disease phenotype-associated VAR_063257 phenoCommon 46,XY sex reversal type 3 (SRXY3) [MIM:612965] VAR_063258 commonName VAR_063258 VAR_063258 disease phenotype-associated VAR_063258 phenoCommon 46,XY sex reversal type 3 (SRXY3) [MIM:612965] VAR_063259 commonName VAR_063259 VAR_063260 commonName VAR_063260 VAR_063260 disease not phenotype-associated VAR_063261 commonName VAR_063261 VAR_063261 disease not phenotype-associated VAR_063262 commonName VAR_063262 VAR_063262 disease not phenotype-associated VAR_063265 commonName VAR_063265 VAR_063265 disease phenotype-associated VAR_063265 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500] VAR_063266 commonName VAR_063266 VAR_063266 disease phenotype-associated VAR_063266 phenoCommon Nystagmus congenital X-linked type 6 (NYS6) [MIM:300814] VAR_063267 commonName VAR_063267 VAR_063267 disease phenotype-associated VAR_063267 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500] VAR_063268 commonName VAR_063268 VAR_063268 disease phenotype-associated VAR_063268 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500] VAR_063269 commonName VAR_063269 VAR_063269 disease phenotype-associated VAR_063269 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500] VAR_063270 commonName VAR_063270 VAR_063270 disease phenotype-associated VAR_063270 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500] VAR_063271 commonName VAR_063271 VAR_063271 disease phenotype-associated VAR_063271 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500] VAR_063272 commonName VAR_063272 VAR_063272 disease phenotype-associated VAR_063272 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500] VAR_063273 commonName VAR_063273 VAR_063273 disease phenotype-associated VAR_063273 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500] VAR_063274 commonName VAR_063274 VAR_063274 disease phenotype-associated VAR_063274 phenoCommon Albinism ocular type 1 (OA1) [MIM:300500] VAR_063278 commonName VAR_063278 VAR_063278 disease phenotype-associated VAR_063278 phenoCommon Conotruncal heart malformations (CTHM) [MIM:217095] VAR_063279 commonName VAR_063279 VAR_063279 disease not phenotype-associated VAR_063280 commonName VAR_063280 VAR_063280 disease not phenotype-associated VAR_063281 commonName VAR_063281 VAR_063281 disease not phenotype-associated VAR_063282 commonName VAR_063282 VAR_063282 disease not phenotype-associated VAR_063283 commonName VAR_063283 VAR_063283 disease not phenotype-associated VAR_063284 commonName VAR_063284 VAR_063284 disease not phenotype-associated VAR_063285 commonName VAR_063285 VAR_063285 disease not phenotype-associated VAR_063286 commonName VAR_063286 VAR_063286 disease phenotype-associated VAR_063286 phenoCommon Thyrotoxic hypokalemic periodic paralysis (TTPP2) [MIM:613239] VAR_063287 commonName VAR_063287 VAR_063287 disease phenotype-associated VAR_063287 phenoCommon Thyrotoxic hypokalemic periodic paralysis (TTPP2) [MIM:613239] VAR_063288 commonName VAR_063288 VAR_063288 disease phenotype-associated VAR_063288 phenoCommon Thyrotoxic hypokalemic periodic paralysis (TTPP2) [MIM:613239] VAR_063289 commonName VAR_063289 VAR_063289 disease phenotype-associated VAR_063289 phenoCommon Thyrotoxic hypokalemic periodic paralysis (TTPP2) [MIM:613239] VAR_063290 commonName VAR_063290 VAR_063290 disease phenotype-associated VAR_063290 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063291 commonName VAR_063291 VAR_063292 commonName VAR_063292 VAR_063292 disease phenotype-associated VAR_063292 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200] VAR_063293 commonName VAR_063293 VAR_063293 disease phenotype-associated VAR_063293 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220] VAR_063294 commonName VAR_063294 VAR_063294 disease phenotype-associated VAR_063294 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200] VAR_063295 commonName VAR_063295 VAR_063295 disease phenotype-associated VAR_063295 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_063296 commonName VAR_063296 VAR_063297 commonName VAR_063297 VAR_063297 disease phenotype-associated VAR_063297 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220] VAR_063298 commonName VAR_063298 VAR_063298 disease phenotype-associated VAR_063298 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200] VAR_063299 commonName VAR_063299 VAR_063299 disease phenotype-associated VAR_063299 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200] VAR_063300 commonName VAR_063300 VAR_063301 commonName VAR_063301 VAR_063302 commonName VAR_063302 VAR_063302 disease phenotype-associated VAR_063302 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200] VAR_063303 commonName VAR_063303 VAR_063303 disease phenotype-associated VAR_063303 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220] VAR_063304 commonName VAR_063304 VAR_063304 disease phenotype-associated VAR_063304 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200] VAR_063305 commonName VAR_063305 VAR_063305 disease phenotype-associated VAR_063305 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063306 commonName VAR_063306 VAR_063306 disease phenotype-associated VAR_063306 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220] VAR_063307 commonName VAR_063307 VAR_063307 disease phenotype-associated VAR_063307 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063308 commonName VAR_063308 VAR_063309 commonName VAR_063309 VAR_063309 disease phenotype-associated VAR_063309 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063310 commonName VAR_063310 VAR_063310 disease phenotype-associated VAR_063310 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063311 commonName VAR_063311 VAR_063311 disease phenotype-associated VAR_063311 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063312 commonName VAR_063312 VAR_063312 disease phenotype-associated VAR_063312 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063313 commonName VAR_063313 VAR_063313 disease phenotype-associated VAR_063313 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200] VAR_063314 commonName VAR_063314 VAR_063315 commonName VAR_063315 VAR_063315 disease phenotype-associated VAR_063315 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063316 commonName VAR_063316 VAR_063316 disease phenotype-associated VAR_063316 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063317 commonName VAR_063317 VAR_063317 disease phenotype-associated VAR_063317 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063318 commonName VAR_063318 VAR_063318 disease phenotype-associated VAR_063318 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063319 commonName VAR_063319 VAR_063319 disease phenotype-associated VAR_063319 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200] VAR_063320 commonName VAR_063320 VAR_063320 disease phenotype-associated VAR_063320 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220] VAR_063321 commonName VAR_063321 VAR_063321 disease phenotype-associated VAR_063321 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200] VAR_063322 commonName VAR_063322 VAR_063322 disease phenotype-associated VAR_063322 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063323 commonName VAR_063323 VAR_063323 disease phenotype-associated VAR_063323 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063324 commonName VAR_063324 VAR_063324 disease phenotype-associated VAR_063324 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063325 commonName VAR_063325 VAR_063325 disease phenotype-associated VAR_063325 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063326 commonName VAR_063326 VAR_063327 commonName VAR_063327 VAR_063327 disease phenotype-associated VAR_063327 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063328 commonName VAR_063328 VAR_063328 disease phenotype-associated VAR_063328 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063329 commonName VAR_063329 VAR_063330 commonName VAR_063330 VAR_063330 disease phenotype-associated VAR_063330 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063331 commonName VAR_063331 VAR_063331 disease phenotype-associated VAR_063331 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063332 commonName VAR_063332 VAR_063332 disease phenotype-associated VAR_063332 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063334 commonName VAR_063334 VAR_063334 disease phenotype-associated VAR_063334 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063335 commonName VAR_063335 VAR_063336 commonName VAR_063336 VAR_063337 commonName VAR_063337 VAR_063337 disease phenotype-associated VAR_063337 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063338 commonName VAR_063338 VAR_063338 disease phenotype-associated VAR_063338 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200] VAR_063339 commonName VAR_063339 VAR_063339 disease phenotype-associated VAR_063339 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200] VAR_063340 commonName VAR_063340 VAR_063340 disease not phenotype-associated VAR_063341 commonName VAR_063341 VAR_063341 disease phenotype-associated VAR_063341 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063342 commonName VAR_063342 VAR_063342 disease phenotype-associated VAR_063342 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063343 commonName VAR_063343 VAR_063343 disease phenotype-associated VAR_063343 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220] VAR_063344 commonName VAR_063344 VAR_063344 disease phenotype-associated VAR_063344 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220] VAR_063345 commonName VAR_063345 VAR_063345 disease phenotype-associated VAR_063345 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063346 commonName VAR_063346 VAR_063346 disease phenotype-associated VAR_063346 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200] VAR_063347 commonName VAR_063347 VAR_063347 disease phenotype-associated VAR_063347 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063348 commonName VAR_063348 VAR_063348 disease phenotype-associated VAR_063348 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220] VAR_063349 commonName VAR_063349 VAR_063349 disease phenotype-associated VAR_063349 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063350 commonName VAR_063350 VAR_063350 disease phenotype-associated VAR_063350 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200] VAR_063351 commonName VAR_063351 VAR_063351 disease phenotype-associated VAR_063351 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220] VAR_063352 commonName VAR_063352 VAR_063352 disease phenotype-associated VAR_063352 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_063353 commonName VAR_063353 VAR_063353 disease phenotype-associated VAR_063353 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063354 commonName VAR_063354 VAR_063354 disease phenotype-associated VAR_063354 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063355 commonName VAR_063355 VAR_063355 disease phenotype-associated VAR_063355 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063357 commonName VAR_063357 VAR_063357 disease phenotype-associated VAR_063357 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063358 commonName VAR_063358 VAR_063358 disease phenotype-associated VAR_063358 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063359 commonName VAR_063359 VAR_063360 commonName VAR_063360 VAR_063360 disease phenotype-associated VAR_063360 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063361 commonName VAR_063361 VAR_063361 disease phenotype-associated VAR_063361 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_063363 commonName VAR_063363 VAR_063363 disease phenotype-associated VAR_063363 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200] VAR_063364 commonName VAR_063364 VAR_063364 disease phenotype-associated VAR_063364 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063365 commonName VAR_063365 VAR_063365 disease phenotype-associated VAR_063365 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063366 commonName VAR_063366 VAR_063366 disease phenotype-associated VAR_063366 phenoCommon Osteogenesis imperfecta type 4 (OI4) [MIM:166220] VAR_063370 commonName VAR_063370 VAR_063370 disease phenotype-associated VAR_063370 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_063371 commonName VAR_063371 VAR_063371 disease phenotype-associated VAR_063371 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_063372 commonName VAR_063372 VAR_063372 disease phenotype-associated VAR_063372 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_063373 commonName VAR_063373 VAR_063373 disease phenotype-associated VAR_063373 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] HbVar.685 protEffect HBB 7(A3) Glu>Val AND HBB 74(E17) Asp>Asn VAR_063374 commonName VAR_063374 VAR_063374 disease phenotype-associated VAR_063374 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063375 commonName VAR_063375 VAR_063375 disease phenotype-associated VAR_063375 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063377 commonName VAR_063377 VAR_063377 disease phenotype-associated VAR_063377 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_063378 commonName VAR_063378 VAR_063378 disease phenotype-associated VAR_063378 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063379 commonName VAR_063379 VAR_063379 disease phenotype-associated VAR_063379 phenoCommon Osteogenesis imperfecta type 2 (OI2) [MIM:166210] VAR_063381 commonName VAR_063381 VAR_063381 disease phenotype-associated VAR_063381 phenoCommon Osteogenesis imperfecta type 3 (OI3) [MIM:259420] VAR_063383 commonName VAR_063383 VAR_063383 disease phenotype-associated VAR_063383 phenoCommon Osteogenesis imperfecta type 1 (OI1) [MIM:166200] VAR_063384 comment A Burkitt lymphoma symple VAR_063384 commonName VAR_063384 VAR_063385 comment A Burkitt lymphoma sample VAR_063385 commonName VAR_063385 VAR_063386 comment A Burkitt lymphoma sample VAR_063386 commonName VAR_063386 VAR_063387 comment A Burkitt lymphoma sample VAR_063387 commonName VAR_063387 VAR_063388 commonName VAR_063388 VAR_063388 disease phenotype-associated VAR_063388 phenoCommon Joubert syndrome type 2 (JBTS2) [MIM:608091] VAR_063389 commonName VAR_063389 VAR_063389 disease phenotype-associated VAR_063389 phenoCommon Polymicrogyria asymmetric (PMGA) [MIM:610031] VAR_063390 commonName VAR_063390 VAR_063390 disease not phenotype-associated VAR_063391 commonName VAR_063391 VAR_063391 disease phenotype-associated VAR_063391 phenoCommon Polymicrogyria asymmetric (PMGA) [MIM:610031] VAR_063392 commonName VAR_063392 VAR_063392 disease phenotype-associated VAR_063392 phenoCommon Polymicrogyria asymmetric (PMGA) [MIM:610031] VAR_063393 commonName VAR_063393 VAR_063393 disease phenotype-associated VAR_063393 phenoCommon Polymicrogyria asymmetric (PMGA) [MIM:610031] VAR_063394 commonName VAR_063394 VAR_063394 disease phenotype-associated VAR_063394 phenoCommon Polymicrogyria asymmetric (PMGA) [MIM:610031] VAR_063395 commonName VAR_063395 VAR_063395 disease phenotype-associated VAR_063395 phenoCommon Retinitis pigmentosa type 54 (RP54) [MIM:613428] VAR_063396 commonName VAR_063396 VAR_063396 disease not phenotype-associated VAR_063397 commonName VAR_063397 VAR_063397 disease not phenotype-associated VAR_063399 commonName VAR_063399 VAR_063399 disease not phenotype-associated VAR_063400 commonName VAR_063400 VAR_063400 disease not phenotype-associated VAR_063401 commonName VAR_063401 VAR_063401 disease not phenotype-associated VAR_063402 commonName VAR_063402 VAR_063402 disease not phenotype-associated VAR_063403 commonName VAR_063403 VAR_063403 disease not phenotype-associated VAR_063404 commonName VAR_063404 VAR_063404 disease not phenotype-associated VAR_063405 commonName VAR_063405 VAR_063405 disease not phenotype-associated VAR_063406 commonName VAR_063406 VAR_063406 disease not phenotype-associated VAR_063407 commonName VAR_063407 VAR_063407 disease not phenotype-associated VAR_063408 commonName VAR_063408 VAR_063408 disease not phenotype-associated VAR_063409 commonName VAR_063409 VAR_063409 disease not phenotype-associated VAR_063410 commonName VAR_063410 VAR_063410 disease not phenotype-associated VAR_063411 commonName VAR_063411 VAR_063411 disease phenotype-associated VAR_063411 phenoCommon Macrothrombocytopenia autosomal dominant TUBB1-related (MAD-TUBB1) [MIM:613112] VAR_063412 commonName VAR_063412 VAR_063412 disease phenotype-associated VAR_063412 phenoCommon High bone mass trait (HBM) [MIM:601884] VAR_063414 commonName VAR_063414 VAR_063414 disease not phenotype-associated VAR_063415 commonName VAR_063415 VAR_063415 disease not phenotype-associated VAR_063416 commonName VAR_063416 VAR_063416 disease not phenotype-associated VAR_063417 commonName VAR_063417 VAR_063417 disease not phenotype-associated VAR_063418 commonName VAR_063418 VAR_063418 disease not phenotype-associated VAR_063419 commonName VAR_063419 VAR_063419 disease not phenotype-associated VAR_063420 commonName VAR_063420 VAR_063420 disease not phenotype-associated VAR_063421 commonName VAR_063421 VAR_063421 disease phenotype-associated VAR_063421 phenoCommon Myopathy distal type 2 (MPD2) [MIM:606070] VAR_063422 commonName VAR_063422 VAR_063422 disease phenotype-associated VAR_063422 phenoCommon Bifid nose with or without anorectal and renal anomalies (BNAR) [MIM:608980] VAR_063423 commonName VAR_063423 VAR_063423 disease phenotype-associated VAR_063423 phenoCommon Bifid nose with or without anorectal and renal anomalies (BNAR) [MIM:608980] VAR_063424 commonName VAR_063424 VAR_063424 disease phenotype-associated VAR_063424 phenoCommon Lymphoproliferative syndrome EBV-associated autosomal type 1 (LPSA1) [MIM:613011] VAR_063425 commonName VAR_063425 VAR_063425 disease phenotype-associated VAR_063425 phenoCommon Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038] VAR_063426 commonName VAR_063426 VAR_063426 disease phenotype-associated VAR_063426 phenoCommon Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038] VAR_063427 commonName VAR_063427 VAR_063427 disease phenotype-associated VAR_063427 phenoCommon Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038] VAR_063428 commonName VAR_063428 VAR_063428 disease not phenotype-associated VAR_063429 commonName VAR_063429 VAR_063429 disease phenotype-associated VAR_063429 phenoCommon Transient infantile liver failure (LFIT) [MIM:613070] VAR_063430 commonName VAR_063430 VAR_063430 disease phenotype-associated VAR_063430 phenoCommon Transient infantile liver failure (LFIT) [MIM:613070] VAR_063431 commonName VAR_063431 VAR_063431 disease not phenotype-associated VAR_063432 commonName VAR_063432 VAR_063432 disease phenotype-associated VAR_063432 phenoCommon Metaphyseal anadysplasia type 1 (MANDP1) [MIM:602111] VAR_063433 commonName VAR_063433 VAR_063433 disease phenotype-associated VAR_063433 phenoCommon Metaphyseal anadysplasia type 1 (MANDP1) [MIM:602111] VAR_063434 commonName VAR_063434 VAR_063434 disease phenotype-associated VAR_063434 phenoCommon Metaphyseal anadysplasia type 1 (MANDP1) [MIM:602111] VAR_063435 commonName VAR_063435 VAR_063435 disease phenotype-associated VAR_063435 phenoCommon Mitochondrial progressive myopathy with congenital cataract hearing loss and developmental delay (MPMCHD) [MIM:613076] VAR_063436 commonName VAR_063436 VAR_063436 disease phenotype-associated VAR_063436 phenoCommon Osteogenesis imperfecta type 9 (OI9) [MIM:259440] VAR_063437 commonName VAR_063437 VAR_063437 disease not phenotype-associated VAR_063438 commonName VAR_063438 VAR_063438 disease not phenotype-associated VAR_063439 commonName VAR_063439 VAR_063440 commonName VAR_063440 VAR_063440 disease not phenotype-associated VAR_063441 commonName VAR_063441 VAR_063441 disease not phenotype-associated VAR_063442 commonName VAR_063442 VAR_063442 disease not phenotype-associated VAR_063443 commonName VAR_063443 VAR_063443 disease not phenotype-associated VAR_063444 commonName VAR_063444 VAR_063444 disease not phenotype-associated VAR_063445 commonName VAR_063445 VAR_063445 disease phenotype-associated VAR_063445 phenoCommon Retinitis pigmentosa type 25 (RP25) [MIM:602772] VAR_063446 commonName VAR_063446 VAR_063446 disease not phenotype-associated VAR_063447 commonName VAR_063447 VAR_063447 disease not phenotype-associated VAR_063448 commonName VAR_063448 VAR_063448 disease phenotype-associated VAR_063448 phenoCommon Retinitis pigmentosa type 25 (RP25) [MIM:602772] VAR_063449 commonName VAR_063449 VAR_063449 disease not phenotype-associated VAR_063450 commonName VAR_063450 VAR_063450 disease not phenotype-associated VAR_063451 commonName VAR_063451 VAR_063451 disease phenotype-associated VAR_063451 phenoCommon Retinitis pigmentosa type 25 (RP25) [MIM:602772] VAR_063452 commonName VAR_063452 VAR_063452 disease not phenotype-associated VAR_063453 commonName VAR_063453 VAR_063453 disease phenotype-associated VAR_063453 phenoCommon Retinitis pigmentosa type 25 (RP25) [MIM:602772] VAR_063454 commonName VAR_063454 VAR_063454 disease phenotype-associated VAR_063454 phenoCommon Retinitis pigmentosa type 25 (RP25) [MIM:602772] VAR_063455 commonName VAR_063455 VAR_063455 disease not phenotype-associated VAR_063456 commonName VAR_063456 VAR_063456 disease not phenotype-associated VAR_063457 commonName VAR_063457 VAR_063457 disease not phenotype-associated VAR_063458 commonName VAR_063458 VAR_063458 disease not phenotype-associated VAR_063459 commonName VAR_063459 VAR_063459 disease not phenotype-associated VAR_063460 commonName VAR_063460 VAR_063460 disease not phenotype-associated VAR_063461 commonName VAR_063461 VAR_063461 disease not phenotype-associated VAR_063462 commonName VAR_063462 VAR_063462 disease not phenotype-associated VAR_063463 commonName VAR_063463 VAR_063463 disease not phenotype-associated VAR_063464 commonName VAR_063464 VAR_063464 disease not phenotype-associated VAR_063465 commonName VAR_063465 VAR_063465 disease phenotype-associated VAR_063465 phenoCommon Retinitis pigmentosa type 25 (RP25) [MIM:602772] VAR_063466 commonName VAR_063466 VAR_063466 disease not phenotype-associated VAR_063467 commonName VAR_063467 VAR_063467 disease phenotype-associated VAR_063467 phenoCommon Retinitis pigmentosa type 25 (RP25) [MIM:602772] VAR_063468 commonName VAR_063468 VAR_063468 disease not phenotype-associated VAR_063469 commonName VAR_063469 VAR_063469 disease not phenotype-associated VAR_063470 commonName VAR_063470 VAR_063470 disease phenotype-associated VAR_063470 phenoCommon Retinitis pigmentosa type 25 (RP25) [MIM:602772] VAR_063471 commonName VAR_063471 VAR_063471 disease not phenotype-associated VAR_063472 commonName VAR_063472 VAR_063472 disease not phenotype-associated VAR_063473 commonName VAR_063473 VAR_063473 disease not phenotype-associated VAR_063474 commonName VAR_063474 VAR_063474 disease not phenotype-associated VAR_063475 commonName VAR_063475 VAR_063475 disease not phenotype-associated VAR_063476 commonName VAR_063476 VAR_063476 disease not phenotype-associated VAR_063477 commonName VAR_063477 VAR_063477 disease not phenotype-associated VAR_063490 commonName VAR_063490 VAR_063491 commonName VAR_063491 VAR_063491 disease not phenotype-associated VAR_063492 commonName VAR_063492 VAR_063493 commonName VAR_063493 VAR_063494 commonName VAR_063494 VAR_063494 disease not phenotype-associated VAR_063495 commonName VAR_063495 VAR_063495 disease not phenotype-associated VAR_063496 commonName VAR_063496 VAR_063496 disease not phenotype-associated VAR_063497 commonName VAR_063497 VAR_063497 disease phenotype-associated VAR_063497 phenoCommon Hypotrichosis type 1 (HYPT1) [MIM:605389] VAR_063498 comment A lung cancer sample VAR_063498 commonName VAR_063498 VAR_063499 comment A lung cancer sample VAR_063499 commonName VAR_063499 VAR_063500 comment Esophagus cancer samples VAR_063500 commonName VAR_063500 VAR_063501 comment Esophagus cancer sample VAR_063501 commonName VAR_063501 VAR_063502 comment Esophagus cancer sample VAR_063502 commonName VAR_063502 VAR_063503 comment Esophagus cancer samples VAR_063503 commonName VAR_063503 VAR_063504 comment Esophagus cancer samples VAR_063504 commonName VAR_063504 VAR_063505 commonName VAR_063505 VAR_063505 disease not phenotype-associated VAR_063506 commonName VAR_063506 VAR_063506 disease not phenotype-associated VAR_063507 commonName VAR_063507 VAR_063507 disease phenotype-associated VAR_063507 phenoCommon Cockayne syndrome type A (CSA) [MIM:216400] VAR_063508 commonName VAR_063508 VAR_063508 disease phenotype-associated VAR_063508 phenoCommon Cockayne syndrome type A (CSA) [MIM:216400] VAR_063509 commonName VAR_063509 VAR_063509 disease phenotype-associated VAR_063509 phenoCommon Cockayne syndrome type A (CSA) [MIM:216400] VAR_063510 commonName VAR_063510 VAR_063510 disease phenotype-associated VAR_063510 phenoCommon Cockayne syndrome type A (CSA) [MIM:216400] VAR_063511 commonName VAR_063511 VAR_063511 disease phenotype-associated VAR_063511 phenoCommon Cockayne syndrome type B (CSB) [MIM:133540] VAR_063512 commonName VAR_063512 VAR_063512 disease phenotype-associated VAR_063512 phenoCommon Cockayne syndrome type B (CSB) [MIM:133540] VAR_063513 commonName VAR_063513 VAR_063513 disease phenotype-associated VAR_063513 phenoCommon Cockayne syndrome type B (CSB) [MIM:133540] VAR_063517 commonName VAR_063517 VAR_063517 disease not phenotype-associated VAR_063518 commonName VAR_063518 VAR_063518 disease not phenotype-associated VAR_063521 commonName VAR_063521 VAR_063521 disease phenotype-associated VAR_063521 phenoCommon Charcot-Marie-Tooth disease type 2B2 (CMT2B2) [MIM:605589] VAR_063522 commonName VAR_063522 VAR_063522 disease phenotype-associated VAR_063522 phenoCommon Deafness X-linked type 1 (DFNX1) [MIM:304500] VAR_063523 commonName VAR_063523 VAR_063523 disease phenotype-associated VAR_063523 phenoCommon Deafness X-linked type 1 (DFNX1) [MIM:304500] VAR_063527 commonName VAR_063527 VAR_063527 disease phenotype-associated VAR_063527 phenoCommon Charcot-Marie-Tooth disease type 2N (CMT2N) [MIM:613287] VAR_063528 commonName VAR_063528 VAR_063528 disease phenotype-associated VAR_063528 phenoCommon Charcot-Marie-Tooth disease type 2C (CMT2C) [MIM:606071] VAR_063529 commonName VAR_063529 VAR_063529 disease phenotype-associated VAR_063529 phenoCommon Charcot-Marie-Tooth disease type 2C (CMT2C) [MIM:606071] VAR_063529 phenoCommon Distal spinal muscular atrophy congenital non-progressive (DSMAC) [MIM:600175] VAR_063530 commonName VAR_063530 VAR_063530 disease phenotype-associated VAR_063530 phenoCommon Charcot-Marie-Tooth disease type 2C (CMT2C) [MIM:606071] VAR_063530 phenoCommon Scapuloperoneal spinal muscular atrophy (SPSMA) [MIM:181405] VAR_063531 commonName VAR_063531 VAR_063532 commonName VAR_063532 VAR_063533 commonName VAR_063533 VAR_063534 commonName VAR_063534 VAR_063534 disease not phenotype-associated VAR_063535 commonName VAR_063535 VAR_063536 commonName VAR_063536 VAR_063537 commonName VAR_063537 VAR_063537 disease not phenotype-associated VAR_063538 commonName VAR_063538 VAR_063539 commonName VAR_063539 VAR_063539 disease phenotype-associated VAR_063539 phenoCommon Retinitis pigmentosa type 33 (RP33) [MIM:610359] VAR_063540 commonName VAR_063540 VAR_063540 disease phenotype-associated VAR_063540 phenoCommon Retinitis pigmentosa type 33 (RP33) [MIM:610359] VAR_063541 commonName VAR_063541 VAR_063541 disease phenotype-associated VAR_063541 phenoCommon Charcot-Marie-Tooth disease type 2C (CMT2C) [MIM:606071] VAR_063542 commonName VAR_063542 VAR_063542 disease phenotype-associated VAR_063542 phenoCommon Inflammatory bowel disease type 28 (IBD28) [MIM:613148] VAR_063543 commonName VAR_063543 VAR_063543 disease phenotype-associated VAR_063543 phenoCommon Inflammatory bowel disease type 28 (IBD28) [MIM:613148] VAR_063544 commonName VAR_063544 VAR_063544 disease phenotype-associated VAR_063544 phenoCommon Spinocerebellar ataxia type 28 (SCA28) [MIM:610246] VAR_063545 commonName VAR_063545 VAR_063545 disease phenotype-associated VAR_063545 phenoCommon Spinocerebellar ataxia type 28 (SCA28) [MIM:610246] VAR_063546 commonName VAR_063546 VAR_063546 disease phenotype-associated VAR_063546 phenoCommon Spinocerebellar ataxia type 28 (SCA28) [MIM:610246] VAR_063547 commonName VAR_063547 VAR_063547 disease phenotype-associated VAR_063547 phenoCommon Spinocerebellar ataxia type 28 (SCA28) [MIM:610246] VAR_063548 commonName VAR_063548 VAR_063548 disease phenotype-associated VAR_063548 phenoCommon Cardiomyopathy dilated type 1FF (CMD1FF) [MIM:613286] VAR_063549 commonName VAR_063549 VAR_063549 disease phenotype-associated VAR_063549 phenoCommon Cardiomyopathy dilated type 1FF (CMD1FF) [MIM:613286] VAR_063550 commonName VAR_063550 VAR_063550 disease not phenotype-associated VAR_063551 commonName VAR_063551 VAR_063551 disease not phenotype-associated VAR_063552 commonName VAR_063552 VAR_063552 disease phenotype-associated VAR_063552 phenoCommon Cardiomyopathy dilated type 1EE (CMD1EE) [MIM:613252] VAR_063553 commonName VAR_063553 VAR_063553 disease phenotype-associated VAR_063553 phenoCommon Cardiomyopathy dilated type 1EE (CMD1EE) [MIM:613252] VAR_063554 commonName VAR_063554 VAR_063554 disease phenotype-associated VAR_063554 phenoCommon Familial hypertrophic cardiomyopathy type 14 (CMH14) [MIM:613251] VAR_063555 commonName VAR_063555 VAR_063555 disease not phenotype-associated VAR_063556 commonName VAR_063556 VAR_063556 disease not phenotype-associated VAR_063557 commonName VAR_063557 VAR_063557 disease phenotype-associated VAR_063557 phenoCommon Cardiomyopathy dilated type 1EE (CMD1EE) [MIM:613252] VAR_063558 commonName VAR_063558 VAR_063558 disease not phenotype-associated VAR_063559 commonName VAR_063559 VAR_063559 disease not phenotype-associated VAR_063560 commonName VAR_063560 VAR_063560 disease phenotype-associated VAR_063560 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_063561 commonName VAR_063561 VAR_063561 disease phenotype-associated VAR_063561 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_063562 commonName VAR_063562 VAR_063562 disease phenotype-associated VAR_063562 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_063563 commonName VAR_063563 VAR_063563 disease phenotype-associated VAR_063563 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_063564 commonName VAR_063564 VAR_063564 disease phenotype-associated VAR_063564 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_063565 commonName VAR_063565 VAR_063565 disease phenotype-associated VAR_063565 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_063566 commonName VAR_063566 VAR_063566 disease phenotype-associated VAR_063566 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_063567 commonName VAR_063567 VAR_063567 disease phenotype-associated VAR_063567 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_063568 commonName VAR_063568 VAR_063568 disease phenotype-associated VAR_063568 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_063569 commonName VAR_063569 VAR_063569 disease phenotype-associated VAR_063569 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_063570 commonName VAR_063570 VAR_063570 disease phenotype-associated VAR_063570 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_063576 commonName VAR_063576 VAR_063576 disease phenotype-associated VAR_063576 phenoCommon Vitreoretinopathy exudative type 5 (EVR5) [MIM:613310] VAR_063580 commonName VAR_063580 VAR_063580 disease phenotype-associated VAR_063580 phenoCommon Diamond-Blackfan anemia type 10 (DBA10) [MIM:613309] VAR_063581 commonName VAR_063581 VAR_063581 disease phenotype-associated VAR_063581 phenoCommon Diamond-Blackfan anemia type 10 (DBA10) [MIM:613309] VAR_063582 commonName VAR_063582 VAR_063582 disease phenotype-associated VAR_063582 phenoCommon Limb-girdle muscular dystrophy type 2L (LGMD2L) [MIM:611307] VAR_063583 commonName VAR_063583 VAR_063583 disease phenotype-associated VAR_063583 phenoCommon Miyoshi muscular dystrophy type 3 (MMD3) [MIM:613319] VAR_063584 commonName VAR_063584 VAR_063584 disease phenotype-associated VAR_063584 phenoCommon Cranioectodermal dysplasia type 1 (CED1) [MIM:218330] VAR_063585 commonName VAR_063585 VAR_063585 disease phenotype-associated VAR_063585 phenoCommon Cranioectodermal dysplasia type 1 (CED1) [MIM:218330] VAR_063586 commonName VAR_063586 VAR_063586 disease phenotype-associated VAR_063586 phenoCommon Cranioectodermal dysplasia type 1 (CED1) [MIM:218330] VAR_063587 commonName VAR_063587 VAR_063587 disease phenotype-associated VAR_063587 phenoCommon Woolly hair autosomal dominant (ADWH) [MIM:194300] VAR_063588 commonName VAR_063588 VAR_063588 disease phenotype-associated VAR_063588 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_063588 phenoCommon Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] VAR_063589 commonName VAR_063589 VAR_063589 disease phenotype-associated VAR_063589 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_063589 phenoCommon Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] VAR_063590 commonName VAR_063590 VAR_063590 disease phenotype-associated VAR_063590 phenoCommon Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] VAR_063591 commonName VAR_063591 VAR_063591 disease phenotype-associated VAR_063591 phenoCommon Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] VAR_063592 commonName VAR_063592 VAR_063592 disease phenotype-associated VAR_063592 phenoCommon Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] VAR_063593 commonName VAR_063593 VAR_063593 disease phenotype-associated VAR_063593 phenoCommon Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] VAR_063594 commonName VAR_063594 VAR_063594 disease phenotype-associated VAR_063594 phenoCommon Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] VAR_063595 commonName VAR_063595 VAR_063597 commonName VAR_063597 VAR_063597 disease phenotype-associated VAR_063597 phenoCommon Amyotrophic lateral sclerosis type 12 (ALS12) [MIM:613435] VAR_063599 commonName VAR_063599 VAR_063599 disease phenotype-associated VAR_063599 phenoCommon Osteogenesis imperfecta type 7 (OI7) [MIM:610682] VAR_063600 commonName VAR_063600 VAR_063600 disease phenotype-associated VAR_063600 phenoCommon Osteogenesis imperfecta type 7 (OI7) [MIM:610682] VAR_063602 commonName VAR_063602 VAR_063602 disease phenotype-associated VAR_063602 phenoCommon Osteogenesis imperfecta type 10 (OI10) [MIM:613848] VAR_063603 commonName VAR_063603 VAR_063603 disease not phenotype-associated VAR_063605 commonName VAR_063605 VAR_063606 commonName VAR_063606 VAR_063606 disease not phenotype-associated VAR_063607 commonName VAR_063607 VAR_063607 disease phenotype-associated VAR_063607 phenoCommon Spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:607259] VAR_063608 commonName VAR_063608 VAR_063608 disease not phenotype-associated VAR_063609 commonName VAR_063609 VAR_063609 disease phenotype-associated VAR_063609 phenoCommon Spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:607259] VAR_063610 commonName VAR_063610 VAR_063610 disease not phenotype-associated VAR_063612 commonName VAR_063612 VAR_063612 disease phenotype-associated VAR_063612 phenoCommon Spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:607259] VAR_063613 commonName VAR_063613 VAR_063613 disease not phenotype-associated VAR_063614 commonName VAR_063614 VAR_063615 commonName VAR_063615 VAR_063616 commonName VAR_063616 VAR_063616 disease not phenotype-associated VAR_063617 commonName VAR_063617 VAR_063617 disease not phenotype-associated VAR_063618 commonName VAR_063618 VAR_063618 disease not phenotype-associated VAR_063619 commonName VAR_063619 VAR_063619 disease not phenotype-associated VAR_063620 commonName VAR_063620 VAR_063620 disease not phenotype-associated VAR_063621 commonName VAR_063621 VAR_063621 disease not phenotype-associated VAR_063622 commonName VAR_063622 VAR_063622 disease not phenotype-associated VAR_063623 commonName VAR_063623 VAR_063623 disease not phenotype-associated VAR_063624 commonName VAR_063624 VAR_063624 disease not phenotype-associated VAR_063625 commonName VAR_063625 VAR_063625 disease not phenotype-associated VAR_063626 commonName VAR_063626 VAR_063626 disease not phenotype-associated VAR_063627 commonName VAR_063627 VAR_063627 disease not phenotype-associated VAR_063628 commonName VAR_063628 VAR_063628 disease not phenotype-associated VAR_063629 commonName VAR_063629 VAR_063629 disease not phenotype-associated VAR_063630 commonName VAR_063630 VAR_063630 disease not phenotype-associated VAR_063631 commonName VAR_063631 VAR_063631 disease not phenotype-associated VAR_063632 commonName VAR_063632 VAR_063632 disease not phenotype-associated VAR_063633 commonName VAR_063633 VAR_063633 disease not phenotype-associated VAR_063634 commonName VAR_063634 VAR_063634 disease phenotype-associated VAR_063634 phenoCommon Cerebellar ataxia mental retardation and dysequilibrium syndrome type 3 (CMARQ3) [MIM:613227] VAR_063635 commonName VAR_063635 VAR_063635 disease not phenotype-associated VAR_063636 commonName VAR_063636 VAR_063636 disease not phenotype-associated VAR_063637 commonName VAR_063637 VAR_063637 disease not phenotype-associated VAR_063638 commonName VAR_063638 VAR_063639 commonName VAR_063639 VAR_063640 commonName VAR_063640 VAR_063640 disease phenotype-associated VAR_063640 phenoCommon Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] VAR_063642 commonName VAR_063642 VAR_063642 disease phenotype-associated VAR_063642 phenoCommon Campomelic dysplasia (CMD1) [MIM:114290] VAR_063643 commonName VAR_063643 VAR_063643 disease phenotype-associated VAR_063643 phenoCommon Campomelic dysplasia (CMD1) [MIM:114290] VAR_063644 commonName VAR_063644 VAR_063644 disease phenotype-associated VAR_063644 phenoCommon Campomelic dysplasia (CMD1) [MIM:114290] VAR_063645 commonName VAR_063645 VAR_063645 disease phenotype-associated VAR_063645 phenoCommon Campomelic dysplasia (CMD1) [MIM:114290] VAR_063646 commonName VAR_063646 VAR_063646 disease phenotype-associated VAR_063646 phenoCommon Campomelic dysplasia (CMD1) [MIM:114290] VAR_063647 commonName VAR_063647 VAR_063647 disease phenotype-associated VAR_063647 phenoCommon Campomelic dysplasia (CMD1) [MIM:114290] VAR_063648 commonName VAR_063648 VAR_063648 disease phenotype-associated VAR_063648 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] VAR_063649 commonName VAR_063649 VAR_063649 disease phenotype-associated VAR_063649 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] VAR_063650 commonName VAR_063650 VAR_063650 disease phenotype-associated VAR_063650 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] VAR_063651 commonName VAR_063651 VAR_063651 disease phenotype-associated VAR_063651 phenoCommon Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400] VAR_063652 commonName VAR_063652 VAR_063653 commonName VAR_063653 VAR_063654 commonName VAR_063654 VAR_063654 disease phenotype-associated VAR_063654 phenoCommon Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925] VAR_063655 commonName VAR_063655 VAR_063655 disease phenotype-associated VAR_063655 phenoCommon Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925] VAR_063656 commonName VAR_063656 VAR_063656 disease phenotype-associated VAR_063656 phenoCommon Hemolytic uremic syndrome atypical type 2 (AHUS2) [MIM:612922] VAR_063657 commonName VAR_063657 VAR_063657 disease phenotype-associated VAR_063657 phenoCommon Hemolytic uremic syndrome atypical type 2 (AHUS2) [MIM:612922] VAR_063658 commonName VAR_063658 VAR_063658 disease phenotype-associated VAR_063658 phenoCommon Hemolytic uremic syndrome atypical type 2 (AHUS2) [MIM:612922] VAR_063665 commonName VAR_063665 VAR_063665 disease phenotype-associated VAR_063665 phenoCommon Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923] VAR_063666 commonName VAR_063666 VAR_063666 disease phenotype-associated VAR_063666 phenoCommon Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923] VAR_063667 commonName VAR_063667 VAR_063667 disease phenotype-associated VAR_063667 phenoCommon Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923] VAR_063668 commonName VAR_063668 VAR_063668 disease phenotype-associated VAR_063668 phenoCommon Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923] VAR_063669 commonName VAR_063669 VAR_063669 disease phenotype-associated VAR_063669 phenoCommon Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923] VAR_063673 commonName VAR_063673 VAR_063673 disease phenotype-associated VAR_063673 phenoCommon Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926] VAR_063674 commonName VAR_063674 VAR_063674 disease phenotype-associated VAR_063674 phenoCommon Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926] VAR_063675 commonName VAR_063675 VAR_063675 disease phenotype-associated VAR_063675 phenoCommon Stickler syndrome type 2 (STL2) [MIM:604841] VAR_063676 commonName VAR_063676 VAR_063676 disease phenotype-associated VAR_063676 phenoCommon Stickler syndrome type 2 (STL2) [MIM:604841] VAR_063678 commonName VAR_063678 VAR_063678 disease phenotype-associated VAR_063678 phenoCommon Stickler syndrome type 2 (STL2) [MIM:604841] VAR_063679 commonName VAR_063679 VAR_063679 disease not phenotype-associated VAR_063680 commonName VAR_063680 VAR_063680 disease not phenotype-associated VAR_063681 commonName VAR_063681 VAR_063681 disease not phenotype-associated VAR_063682 commonName VAR_063682 VAR_063682 disease not phenotype-associated VAR_063683 commonName VAR_063683 VAR_063683 disease phenotype-associated VAR_063683 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500] VAR_063684 commonName VAR_063684 VAR_063684 disease phenotype-associated VAR_063684 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500] VAR_063685 commonName VAR_063685 VAR_063685 disease phenotype-associated VAR_063685 phenoCommon ataxia type 6 (SCA6) [MIM:183086] VAR_063686 commonName VAR_063686 VAR_063686 disease not phenotype-associated VAR_063687 commonName VAR_063687 VAR_063687 disease phenotype-associated VAR_063687 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500] VAR_063688 commonName VAR_063688 VAR_063688 disease phenotype-associated VAR_063688 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500] VAR_063689 commonName VAR_063689 VAR_063689 disease phenotype-associated VAR_063689 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500] VAR_063690 commonName VAR_063690 VAR_063690 disease phenotype-associated VAR_063690 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500] VAR_063691 commonName VAR_063691 VAR_063691 disease phenotype-associated VAR_063691 phenoCommon Spinocerebellar ataxia type 6 (SCA6) [MIM:183086] VAR_063692 commonName VAR_063692 VAR_063692 disease phenotype-associated VAR_063692 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500] VAR_063693 commonName VAR_063693 VAR_063693 disease phenotype-associated VAR_063693 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500] VAR_063694 commonName VAR_063694 VAR_063694 disease phenotype-associated VAR_063694 phenoCommon Brown-Vialetto-Van Laere syndrome type 1 (BVVLS1) [MIM:211530] VAR_063695 commonName VAR_063695 VAR_063695 disease phenotype-associated VAR_063695 phenoCommon Brown-Vialetto-Van Laere syndrome type 1 (BVVLS1) [MIM:211530] VAR_063696 commonName VAR_063696 VAR_063696 disease phenotype-associated VAR_063696 phenoCommon Brown-Vialetto-Van Laere syndrome type 1 (BVVLS1) [MIM:211530] VAR_063698 commonName VAR_063698 VAR_063698 disease not phenotype-associated VAR_063699 commonName VAR_063699 VAR_063699 disease not phenotype-associated VAR_063700 commonName VAR_063700 VAR_063700 disease phenotype-associated VAR_063700 phenoCommon Brown-Vialetto-Van Laere syndrome type 1 (BVVLS1) [MIM:211530] VAR_063701 commonName VAR_063701 VAR_063701 disease phenotype-associated VAR_063701 phenoCommon Brown-Vialetto-Van Laere syndrome type 1 (BVVLS1) [MIM:211530] VAR_063702 commonName VAR_063702 VAR_063702 disease phenotype-associated VAR_063702 phenoCommon Microcephaly primary type 2 (MCPH2) [MIM:604317] VAR_063703 commonName VAR_063703 VAR_063703 disease phenotype-associated VAR_063703 phenoCommon Microcephaly primary type 2 (MCPH2) [MIM:604317] VAR_063704 commonName VAR_063704 VAR_063704 disease phenotype-associated VAR_063704 phenoCommon Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF) [MIM:614388] VAR_063706 commonName VAR_063706 VAR_063706 disease phenotype-associated VAR_063706 phenoCommon Familial hemiplegic migraine type 1 (FHM1) [MIM:141500] VAR_063707 commonName VAR_063707 VAR_063707 disease phenotype-associated VAR_063707 phenoCommon X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352] VAR_063708 commonName VAR_063708 VAR_063708 disease phenotype-associated VAR_063708 phenoCommon X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352] VAR_063709 commonName VAR_063709 VAR_063709 disease phenotype-associated VAR_063709 phenoCommon X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352] VAR_063711 commonName VAR_063711 VAR_063711 disease phenotype-associated VAR_063711 phenoCommon Brachydactyly type E2 (BDE2) [MIM:613382] VAR_063712 commonName VAR_063712 VAR_063712 disease phenotype-associated VAR_063712 phenoCommon Brachydactyly type E2 (BDE2) [MIM:613382] VAR_063713 commonName VAR_063713 VAR_063713 disease phenotype-associated VAR_063713 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] VAR_063714 commonName VAR_063714 VAR_063714 disease phenotype-associated VAR_063714 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] VAR_063715 commonName VAR_063715 VAR_063715 disease phenotype-associated VAR_063715 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] VAR_063716 commonName VAR_063716 VAR_063716 disease phenotype-associated VAR_063716 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] VAR_063717 commonName VAR_063717 VAR_063717 disease phenotype-associated VAR_063717 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] VAR_063718 commonName VAR_063718 VAR_063718 disease phenotype-associated VAR_063718 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] VAR_063719 commonName VAR_063719 VAR_063719 disease phenotype-associated VAR_063719 phenoCommon Rickets hypophosphatemic autosomal recessive type 2 (ARHR2) [MIM:613312] VAR_063720 commonName VAR_063720 VAR_063720 disease phenotype-associated VAR_063720 phenoCommon Rickets hypophosphatemic autosomal recessive type 2 (ARHR2) [MIM:613312] VAR_063721 commonName VAR_063721 VAR_063721 disease phenotype-associated VAR_063721 phenoCommon Maturity-onset diabetes of the young type 10 (MODY10) [MIM:613370] VAR_063722 commonName VAR_063722 VAR_063722 disease phenotype-associated VAR_063722 phenoCommon Maturity-onset diabetes of the young type 10 (MODY10) [MIM:613370] VAR_063723 commonName VAR_063723 VAR_063723 disease phenotype-associated VAR_063723 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] VAR_063724 commonName VAR_063724 VAR_063724 disease phenotype-associated VAR_063724 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] VAR_063725 commonName VAR_063725 VAR_063725 disease phenotype-associated VAR_063725 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] VAR_063726 commonName VAR_063726 VAR_063726 disease phenotype-associated VAR_063726 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] VAR_063727 commonName VAR_063727 VAR_063727 disease phenotype-associated VAR_063727 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] VAR_063728 commonName VAR_063728 VAR_063728 disease phenotype-associated VAR_063728 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] VAR_063729 commonName VAR_063729 VAR_063729 disease phenotype-associated VAR_063729 phenoCommon Maturity-onset diabetes of the young type 10 (MODY10) [MIM:613370] VAR_063730 commonName VAR_063730 VAR_063730 disease phenotype-associated VAR_063730 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] VAR_063731 commonName VAR_063731 VAR_063731 disease phenotype-associated VAR_063731 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] VAR_063732 commonName VAR_063732 VAR_063732 disease phenotype-associated VAR_063732 phenoCommon Diabetes mellitus insulin-dependent type 2 (IDDM2) [MIM:125852] VAR_063733 commonName VAR_063733 VAR_063733 disease not phenotype-associated VAR_063734 commonName VAR_063734 VAR_063735 commonName VAR_063735 VAR_063735 disease phenotype-associated VAR_063735 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] VAR_063736 commonName VAR_063736 VAR_063736 disease phenotype-associated VAR_063736 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] VAR_063737 commonName VAR_063737 VAR_063737 disease phenotype-associated VAR_063737 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] VAR_063738 commonName VAR_063738 VAR_063738 disease phenotype-associated VAR_063738 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] VAR_063739 commonName VAR_063739 VAR_063739 disease phenotype-associated VAR_063739 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] VAR_063740 commonName VAR_063740 VAR_063740 disease phenotype-associated VAR_063740 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] VAR_063741 commonName VAR_063741 VAR_063741 disease phenotype-associated VAR_063741 phenoCommon Diabetes mellitus permanent neonatal (PNDM) [MIM:606176] VAR_063746 commonName VAR_063746 VAR_063746 disease phenotype-associated VAR_063746 phenoCommon Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510] VAR_063747 commonName VAR_063747 VAR_063747 disease phenotype-associated VAR_063747 phenoCommon Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510] VAR_063748 commonName VAR_063748 VAR_063748 disease phenotype-associated VAR_063748 phenoCommon Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510] VAR_063749 commonName VAR_063749 VAR_063749 disease phenotype-associated VAR_063749 phenoCommon Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510] VAR_063751 commonName VAR_063751 VAR_063751 disease phenotype-associated VAR_063751 phenoCommon 46,XY sex reversal type 5 (SRXY5) [MIM:613080] VAR_063752 commonName VAR_063752 VAR_063752 disease phenotype-associated VAR_063752 phenoCommon 46,XY sex reversal type 5 (SRXY5) [MIM:613080] VAR_063753 commonName VAR_063753 VAR_063753 disease phenotype-associated VAR_063753 phenoCommon Hyperimmunoglobulin E recurrent infection syndrome autosomal recessive (AR-HIES) [MIM:243700] VAR_063754 commonName VAR_063754 VAR_063754 disease phenotype-associated VAR_063754 phenoCommon Ehlers-Danlos syndrome musculocontractural type (EDSMC) [MIM:601776] VAR_063755 commonName VAR_063755 VAR_063755 disease phenotype-associated VAR_063755 phenoCommon Ehlers-Danlos syndrome musculocontractural type (EDSMC) [MIM:601776] VAR_063756 commonName VAR_063756 VAR_063756 disease phenotype-associated VAR_063756 phenoCommon Ehlers-Danlos syndrome musculocontractural type (EDSMC) [MIM:601776] VAR_063757 commonName VAR_063757 VAR_063757 disease phenotype-associated VAR_063757 phenoCommon Ehlers-Danlos syndrome musculocontractural type (EDSMC) [MIM:601776] VAR_063759 commonName VAR_063759 VAR_063759 disease phenotype-associated VAR_063759 phenoCommon Corneal dystrophy Fuchs endothelial type 6 (FECD6) [MIM:613270] VAR_063760 commonName VAR_063760 VAR_063760 disease phenotype-associated VAR_063760 phenoCommon Corneal dystrophy Fuchs endothelial type 6 (FECD6) [MIM:613270] VAR_063764 commonName VAR_063764 VAR_063764 disease phenotype-associated VAR_063764 phenoCommon Frank-Ter Haar syndrome (FTHS) [MIM:249420] VAR_063766 commonName VAR_063766 VAR_063766 disease phenotype-associated VAR_063766 phenoCommon Long QT syndrome type 13 (LQT13) [MIM:613485] VAR_063768 commonName VAR_063768 VAR_063768 disease phenotype-associated VAR_063768 phenoCommon Glycogen storage disease type 15 (GSD15) [MIM:613507] VAR_063770 commonName VAR_063770 VAR_063770 disease phenotype-associated VAR_063770 phenoCommon Familial juvenile hyperuricemic nephropathy type 2 (HNFJ2) [MIM:613092] VAR_063771 commonName VAR_063771 VAR_063771 disease phenotype-associated VAR_063771 phenoCommon Dystonia-parkinsonism infantile (DYTPRI) [MIM:613135] VAR_063772 commonName VAR_063772 VAR_063772 disease phenotype-associated VAR_063772 phenoCommon Dystonia-parkinsonism infantile (DYTPRI) [MIM:613135] VAR_063773 commonName VAR_063773 VAR_063773 disease phenotype-associated VAR_063773 phenoCommon Distal hereditary motor neuronopathy type 2C (HMN2C) [MIM:613376] VAR_063774 commonName VAR_063774 VAR_063774 disease phenotype-associated VAR_063774 phenoCommon Congenital heart disease non-syndromic type 2 (CHTD2) [MIM:612863] VAR_063775 commonName VAR_063775 VAR_063775 disease phenotype-associated VAR_063775 phenoCommon Congenital heart disease non-syndromic type 2 (CHTD2) [MIM:612863] VAR_063776 commonName VAR_063776 VAR_063776 disease phenotype-associated VAR_063776 phenoCommon Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780] VAR_063777 commonName VAR_063777 VAR_063777 disease phenotype-associated VAR_063777 phenoCommon Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780] VAR_063778 commonName VAR_063778 VAR_063778 disease phenotype-associated VAR_063778 phenoCommon Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780] VAR_063779 commonName VAR_063779 VAR_063779 disease phenotype-associated VAR_063779 phenoCommon Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780] VAR_063780 commonName VAR_063780 VAR_063780 disease phenotype-associated VAR_063780 phenoCommon Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780] VAR_063781 commonName VAR_063781 VAR_063781 disease phenotype-associated VAR_063781 phenoCommon Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780] VAR_063782 commonName VAR_063782 VAR_063782 disease phenotype-associated VAR_063782 phenoCommon Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780] VAR_063783 commonName VAR_063783 VAR_063784 commonName VAR_063784 VAR_063785 commonName VAR_063785 VAR_063785 disease phenotype-associated VAR_063785 phenoCommon COACH syndrome (COACHS) [MIM:216360] VAR_063786 commonName VAR_063786 VAR_063786 disease phenotype-associated VAR_063786 phenoCommon COACH syndrome (COACHS) [MIM:216360] VAR_063787 commonName VAR_063787 VAR_063787 disease phenotype-associated VAR_063787 phenoCommon COACH syndrome (COACHS) [MIM:216360] VAR_063788 commonName VAR_063788 VAR_063788 disease phenotype-associated VAR_063788 phenoCommon COACH syndrome (COACHS) [MIM:216360] VAR_063789 commonName VAR_063789 VAR_063789 disease phenotype-associated VAR_063789 phenoCommon COACH syndrome (COACHS) [MIM:216360] VAR_063790 commonName VAR_063790 VAR_063790 disease phenotype-associated VAR_063790 phenoCommon COACH syndrome (COACHS) [MIM:216360] VAR_063791 commonName VAR_063791 VAR_063791 disease phenotype-associated VAR_063791 phenoCommon COACH syndrome (COACHS) [MIM:216360] VAR_063791 phenoCommon Joubert syndrome type 6 (JBTS6) [MIM:610688] VAR_063792 commonName VAR_063792 VAR_063792 disease phenotype-associated VAR_063792 phenoCommon COACH syndrome (COACHS) [MIM:216360] VAR_063793 commonName VAR_063793 VAR_063793 disease phenotype-associated VAR_063793 phenoCommon COACH syndrome (COACHS) [MIM:216360] VAR_063794 commonName VAR_063794 VAR_063794 disease phenotype-associated VAR_063794 phenoCommon COACH syndrome (COACHS) [MIM:216360] VAR_063795 commonName VAR_063795 VAR_063795 disease phenotype-associated VAR_063795 phenoCommon COACH syndrome (COACHS) [MIM:216360] VAR_063796 commonName VAR_063796 VAR_063796 disease phenotype-associated VAR_063796 phenoCommon COACH syndrome (COACHS) [MIM:216360] VAR_063797 commonName VAR_063797 VAR_063797 disease phenotype-associated VAR_063797 phenoCommon COACH syndrome (COACHS) [MIM:216360] VAR_063798 commonName VAR_063798 VAR_063798 disease phenotype-associated VAR_063798 phenoCommon COACH syndrome (COACHS) [MIM:216360] VAR_063799 commonName VAR_063799 VAR_063799 disease phenotype-associated VAR_063799 phenoCommon COACH syndrome (COACHS) [MIM:216360] VAR_063800 commonName VAR_063800 VAR_063800 disease phenotype-associated VAR_063800 phenoCommon COACH syndrome (COACHS) [MIM:216360] VAR_063801 commonName VAR_063801 VAR_063801 disease phenotype-associated VAR_063801 phenoCommon COACH syndrome (COACHS) [MIM:216360] VAR_063801 phenoCommon Joubert syndrome type 6 (JBTS6) [MIM:610688] VAR_063802 commonName VAR_063802 VAR_063802 disease phenotype-associated VAR_063802 phenoCommon COACH syndrome (COACHS) [MIM:216360] VAR_063803 commonName VAR_063803 VAR_063803 disease phenotype-associated VAR_063803 phenoCommon COACH syndrome (COACHS) [MIM:216360] VAR_063804 commonName VAR_063804 VAR_063804 disease phenotype-associated VAR_063804 phenoCommon COACH syndrome (COACHS) [MIM:216360] VAR_063805 commonName VAR_063805 VAR_063805 disease phenotype-associated VAR_063805 phenoCommon COACH syndrome (COACHS) [MIM:216360] VAR_063806 commonName VAR_063806 VAR_063806 disease phenotype-associated VAR_063806 phenoCommon Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150] VAR_063807 commonName VAR_063807 VAR_063807 disease phenotype-associated VAR_063807 phenoCommon Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150] VAR_063808 commonName VAR_063808 VAR_063808 disease phenotype-associated VAR_063808 phenoCommon Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150] VAR_063809 commonName VAR_063809 VAR_063809 disease phenotype-associated VAR_063809 phenoCommon Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150] VAR_063810 commonName VAR_063810 VAR_063810 disease phenotype-associated VAR_063810 phenoCommon Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150] VAR_063811 commonName VAR_063811 VAR_063811 disease phenotype-associated VAR_063811 phenoCommon Reynolds syndrome (REYNS) [MIM:613471] VAR_063813 commonName VAR_063813 VAR_063813 disease phenotype-associated VAR_063813 phenoCommon Microcephaly primary type 4 (MCPH4) [MIM:604321] VAR_063814 commonName VAR_063814 VAR_063814 disease phenotype-associated VAR_063814 phenoCommon Familial hemophagocytic lymphohistiocytosis type 5 (FHL5) [MIM:613101] VAR_063816 commonName VAR_063816 VAR_063816 disease phenotype-associated VAR_063816 phenoCommon Familial hemophagocytic lymphohistiocytosis type 5 (FHL5) [MIM:613101] VAR_063817 commonName VAR_063817 VAR_063817 disease phenotype-associated VAR_063817 phenoCommon Familial hemophagocytic lymphohistiocytosis type 5 (FHL5) [MIM:613101] VAR_063818 commonName VAR_063818 VAR_063818 disease phenotype-associated VAR_063818 phenoCommon Familial hemophagocytic lymphohistiocytosis type 5 (FHL5) [MIM:613101] VAR_063819 commonName VAR_063819 VAR_063819 disease phenotype-associated VAR_063819 phenoCommon Familial hemophagocytic lymphohistiocytosis type 5 (FHL5) [MIM:613101] VAR_063821 commonName VAR_063821 VAR_063821 disease phenotype-associated VAR_063821 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] VAR_063822 commonName VAR_063822 VAR_063822 disease phenotype-associated VAR_063822 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] VAR_063823 commonName VAR_063823 VAR_063823 disease phenotype-associated VAR_063823 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] VAR_063824 commonName VAR_063824 VAR_063824 disease phenotype-associated VAR_063824 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] VAR_063825 commonName VAR_063825 VAR_063825 disease phenotype-associated VAR_063825 phenoCommon Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000] VAR_063828 commonName VAR_063828 VAR_063828 disease phenotype-associated VAR_063828 phenoCommon Birbeck granule deficiency (BIRGD) [MIM:613393] VAR_063829 commonName VAR_063829 VAR_063829 disease phenotype-associated VAR_063829 phenoCommon Diarrhea type 5 (DIAR5) [MIM:613217] VAR_063830 commonName VAR_063830 VAR_063830 disease phenotype-associated VAR_063830 phenoCommon Kabuki syndrome type 1 (KABUK1) [MIM:147920] VAR_063831 commonName VAR_063831 VAR_063831 disease phenotype-associated VAR_063831 phenoCommon Kabuki syndrome type 1 (KABUK1) [MIM:147920] VAR_063832 commonName VAR_063832 VAR_063832 disease phenotype-associated VAR_063832 phenoCommon Kabuki syndrome type 1 (KABUK1) [MIM:147920] VAR_063833 commonName VAR_063833 VAR_063833 disease phenotype-associated VAR_063833 phenoCommon Kabuki syndrome type 1 (KABUK1) [MIM:147920] VAR_063834 commonName VAR_063834 VAR_063834 disease phenotype-associated VAR_063834 phenoCommon Kabuki syndrome type 1 (KABUK1) [MIM:147920] VAR_063835 commonName VAR_063835 VAR_063835 disease phenotype-associated VAR_063835 phenoCommon Epileptic encephalopathy, early infantile, type 10 (EIEE10) [MIM:613402] VAR_063837 commonName VAR_063837 VAR_063837 disease not phenotype-associated VAR_063838 commonName VAR_063838 VAR_063838 disease phenotype-associated VAR_063838 phenoCommon Familial breast-ovarian cancer type 3 (BROVCA3) [MIM:613399] VAR_063839 commonName VAR_063839 VAR_063839 disease not phenotype-associated VAR_063840 commonName VAR_063840 VAR_063840 disease phenotype-associated VAR_063840 phenoCommon Familial breast-ovarian cancer type 3 (BROVCA3) [MIM:613399] VAR_063841 commonName VAR_063841 VAR_063841 disease not phenotype-associated VAR_063842 commonName VAR_063842 VAR_063842 disease not phenotype-associated VAR_063843 commonName VAR_063843 VAR_063843 disease not phenotype-associated VAR_063844 commonName VAR_063844 VAR_063844 disease not phenotype-associated VAR_063846 commonName VAR_063846 VAR_063846 disease phenotype-associated VAR_063846 phenoCommon Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310] VAR_063847 commonName VAR_063847 VAR_063847 disease phenotype-associated VAR_063847 phenoCommon Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310] VAR_063848 commonName VAR_063848 VAR_063848 disease phenotype-associated VAR_063848 phenoCommon Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310] VAR_063849 commonName VAR_063849 VAR_063849 disease phenotype-associated VAR_063849 phenoCommon Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310] VAR_063850 commonName VAR_063850 VAR_063850 disease phenotype-associated VAR_063850 phenoCommon Neuroblastoma type 3 (NBLST3) [MIM:613014] VAR_063851 commonName VAR_063851 VAR_063851 disease phenotype-associated VAR_063851 phenoCommon Neuroblastoma type 3 (NBLST3) [MIM:613014] VAR_063852 commonName VAR_063852 VAR_063852 disease phenotype-associated VAR_063852 phenoCommon Neuroblastoma type 3 (NBLST3) [MIM:613014] VAR_063853 commonName VAR_063853 VAR_063853 disease phenotype-associated VAR_063853 phenoCommon Neuroblastoma type 3 (NBLST3) [MIM:613014] VAR_063854 commonName VAR_063854 VAR_063854 disease phenotype-associated VAR_063854 phenoCommon Neuroblastoma type 3 (NBLST3) [MIM:613014] VAR_063855 commonName VAR_063855 VAR_063855 disease phenotype-associated VAR_063855 phenoCommon Neuroblastoma type 3 (NBLST3) [MIM:613014] VAR_063856 commonName VAR_063856 VAR_063856 disease phenotype-associated VAR_063856 phenoCommon Neuroblastoma type 3 (NBLST3) [MIM:613014] VAR_063857 commonName VAR_063857 VAR_063857 disease phenotype-associated VAR_063857 phenoCommon Neuroblastoma type 3 (NBLST3) [MIM:613014] VAR_063858 commonName VAR_063858 VAR_063858 disease phenotype-associated VAR_063858 phenoCommon Neuroblastoma type 3 (NBLST3) [MIM:613014] VAR_063859 commonName VAR_063859 VAR_063859 disease phenotype-associated VAR_063859 phenoCommon Neuroblastoma type 3 (NBLST3) [MIM:613014] VAR_063860 commonName VAR_063860 VAR_063860 disease phenotype-associated VAR_063860 phenoCommon Neuroblastoma type 3 (NBLST3) [MIM:613014] VAR_063861 commonName VAR_063861 VAR_063861 disease phenotype-associated VAR_063861 phenoCommon Neuroblastoma type 3 (NBLST3) [MIM:613014] VAR_063862 commonName VAR_063862 VAR_063862 disease phenotype-associated VAR_063862 phenoCommon Neuroblastoma type 3 (NBLST3) [MIM:613014] VAR_063863 commonName VAR_063863 VAR_063863 disease phenotype-associated VAR_063863 phenoCommon Neuroblastoma type 3 (NBLST3) [MIM:613014] VAR_063864 commonName VAR_063864 VAR_063865 commonName VAR_063865 VAR_063865 disease phenotype-associated VAR_063865 phenoCommon Neuroblastoma type 3 (NBLST3) [MIM:613014] VAR_063866 commonName VAR_063866 VAR_063866 disease phenotype-associated VAR_063866 phenoCommon Neuroblastoma type 3 (NBLST3) [MIM:613014] VAR_063867 commonName VAR_063867 VAR_063867 disease phenotype-associated VAR_063867 phenoCommon Perry syndrome (PERRYS) [MIM:168605] VAR_063868 commonName VAR_063868 VAR_063868 disease phenotype-associated VAR_063868 phenoCommon Perry syndrome (PERRYS) [MIM:168605] VAR_063869 commonName VAR_063869 VAR_063869 disease phenotype-associated VAR_063869 phenoCommon Perry syndrome (PERRYS) [MIM:168605] VAR_063870 commonName VAR_063870 VAR_063870 disease phenotype-associated VAR_063870 phenoCommon Perry syndrome (PERRYS) [MIM:168605] VAR_063871 commonName VAR_063871 VAR_063871 disease phenotype-associated VAR_063871 phenoCommon Perry syndrome (PERRYS) [MIM:168605] VAR_063872 commonName VAR_063872 VAR_063873 commonName VAR_063873 VAR_063874 commonName VAR_063874 VAR_063875 commonName VAR_063875 VAR_063876 commonName VAR_063876 VAR_063877 commonName VAR_063877 VAR_063877 disease phenotype-associated VAR_063877 phenoCommon Lymphedema hereditary type 1C (LMPH1C) [MIM:613480] VAR_063878 commonName VAR_063878 VAR_063879 commonName VAR_063879 VAR_063880 commonName VAR_063880 VAR_063880 disease phenotype-associated VAR_063880 phenoCommon Lymphedema hereditary type 1C (LMPH1C) [MIM:613480] VAR_063881 commonName VAR_063881 VAR_063882 commonName VAR_063882 VAR_063882 disease phenotype-associated VAR_063882 phenoCommon Distal spinal muscular atrophy X-linked type 3 (DSMAX3) [MIM:300489] VAR_063883 commonName VAR_063883 VAR_063883 disease phenotype-associated VAR_063883 phenoCommon Occipital horn syndrome (OHS) [MIM:304150] VAR_063884 commonName VAR_063884 VAR_063884 disease phenotype-associated VAR_063884 phenoCommon Distal spinal muscular atrophy X-linked type 3 (DSMAX3) [MIM:300489] VAR_063885 commonName VAR_063885 VAR_063885 disease phenotype-associated VAR_063885 phenoCommon Congenital variant of Rett syndrome (RTTCV) [MIM:613454] VAR_063888 commonName VAR_063888 VAR_063888 disease not phenotype-associated VAR_063890 commonName VAR_063890 VAR_063890 disease not phenotype-associated VAR_063891 commonName VAR_063891 VAR_063891 disease phenotype-associated VAR_063891 phenoCommon Stickler syndrome type 1 non-syndromic ocular (STL1O) [MIM:609508] VAR_063892 commonName VAR_063892 VAR_063892 disease phenotype-associated VAR_063892 phenoCommon Stickler syndrome type 1 (STL1) [MIM:108300] VAR_063893 commonName VAR_063893 VAR_063893 disease phenotype-associated VAR_063893 phenoCommon Stickler syndrome type 1 (STL1) [MIM:108300] VAR_063894 commonName VAR_063894 VAR_063894 disease phenotype-associated VAR_063894 phenoCommon Stickler syndrome type 1 (STL1) [MIM:108300] VAR_063895 commonName VAR_063895 VAR_063895 disease phenotype-associated VAR_063895 phenoCommon Stickler syndrome type 1 (STL1) [MIM:108300] VAR_063896 commonName VAR_063896 VAR_063896 disease phenotype-associated VAR_063896 phenoCommon Stickler syndrome type 1 (STL1) [MIM:108300] VAR_063897 commonName VAR_063897 VAR_063897 disease phenotype-associated VAR_063897 phenoCommon Achondrogenesis type 2 (ACG2) [MIM:200610] VAR_063898 commonName VAR_063898 VAR_063898 disease phenotype-associated VAR_063898 phenoCommon Stickler syndrome type 1 (STL1) [MIM:108300] VAR_063899 commonName VAR_063899 VAR_063911 commonName VAR_063911 VAR_063912 commonName VAR_063912 VAR_063913 commonName VAR_063913 VAR_063914 commonName VAR_063914 VAR_063915 commonName VAR_063915 VAR_063916 commonName VAR_063916 VAR_063917 commonName VAR_063917 VAR_063918 commonName VAR_063918 VAR_063919 commonName VAR_063919 VAR_063919 disease phenotype-associated VAR_063919 phenoCommon Leber congenital amaurosis type 7 (LCA7) [MIM:613829] VAR_063920 commonName VAR_063920 VAR_063920 disease phenotype-associated VAR_063920 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] VAR_063921 commonName VAR_063921 VAR_063921 disease phenotype-associated VAR_063921 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] VAR_063922 commonName VAR_063922 VAR_063922 disease phenotype-associated VAR_063922 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] VAR_063923 commonName VAR_063923 VAR_063923 disease phenotype-associated VAR_063923 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] VAR_063924 commonName VAR_063924 VAR_063924 disease phenotype-associated VAR_063924 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] VAR_063925 commonName VAR_063925 VAR_063925 disease phenotype-associated VAR_063925 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] VAR_063926 commonName VAR_063926 VAR_063926 disease not phenotype-associated VAR_063927 commonName VAR_063927 VAR_063927 disease phenotype-associated VAR_063927 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] VAR_063928 commonName VAR_063928 VAR_063929 commonName VAR_063929 VAR_063929 disease phenotype-associated VAR_063929 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] VAR_063930 commonName VAR_063930 VAR_063930 disease phenotype-associated VAR_063930 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] VAR_063931 commonName VAR_063931 VAR_063931 disease phenotype-associated VAR_063931 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] VAR_063932 commonName VAR_063932 VAR_063932 disease phenotype-associated VAR_063932 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] VAR_063933 commonName VAR_063933 VAR_063933 disease phenotype-associated VAR_063933 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] VAR_063934 commonName VAR_063934 VAR_063934 disease phenotype-associated VAR_063934 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] VAR_063935 commonName VAR_063935 VAR_063936 commonName VAR_063936 VAR_063936 disease phenotype-associated VAR_063936 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] VAR_063937 commonName VAR_063937 VAR_063937 disease phenotype-associated VAR_063937 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] VAR_063938 commonName VAR_063938 VAR_063938 disease phenotype-associated VAR_063938 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] VAR_063939 commonName VAR_063939 VAR_063939 disease phenotype-associated VAR_063939 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] VAR_063940 commonName VAR_063940 VAR_063940 disease phenotype-associated VAR_063940 phenoCommon Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780] VAR_063941 commonName VAR_063941 VAR_063942 commonName VAR_063942 VAR_063942 disease not phenotype-associated VAR_063943 commonName VAR_063943 VAR_063943 disease phenotype-associated VAR_063943 phenoCommon Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813] VAR_063944 commonName VAR_063944 VAR_063944 disease phenotype-associated VAR_063944 phenoCommon High bone mass trait (HBM) [MIM:601884] VAR_063945 commonName VAR_063945 VAR_063945 disease phenotype-associated VAR_063945 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] VAR_063946 commonName VAR_063946 VAR_063946 disease phenotype-associated VAR_063946 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] VAR_063947 commonName VAR_063947 VAR_063947 disease phenotype-associated VAR_063947 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] VAR_063948 commonName VAR_063948 VAR_063948 disease phenotype-associated VAR_063948 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] VAR_063949 commonName VAR_063949 VAR_063949 disease phenotype-associated VAR_063949 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] VAR_063950 commonName VAR_063950 VAR_063950 disease phenotype-associated VAR_063950 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] VAR_063951 commonName VAR_063951 VAR_063951 disease phenotype-associated VAR_063951 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] VAR_063952 commonName VAR_063952 VAR_063952 disease phenotype-associated VAR_063952 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] VAR_063953 commonName VAR_063953 VAR_063953 disease phenotype-associated VAR_063953 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] VAR_063954 commonName VAR_063954 VAR_063954 disease phenotype-associated VAR_063954 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] VAR_063955 commonName VAR_063955 VAR_063955 disease phenotype-associated VAR_063955 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] VAR_063956 commonName VAR_063956 VAR_063956 disease phenotype-associated VAR_063956 phenoCommon Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813] VAR_063957 commonName VAR_063957 VAR_063957 disease phenotype-associated VAR_063957 phenoCommon Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813] VAR_063958 commonName VAR_063958 VAR_063959 commonName VAR_063959 VAR_063959 disease phenotype-associated VAR_063959 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] VAR_063960 commonName VAR_063960 VAR_063960 disease phenotype-associated VAR_063960 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] VAR_063961 commonName VAR_063961 VAR_063961 disease phenotype-associated VAR_063961 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] VAR_063962 commonName VAR_063962 VAR_063962 disease phenotype-associated VAR_063962 phenoCommon Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813] VAR_063963 commonName VAR_063963 VAR_063963 disease phenotype-associated VAR_063963 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] VAR_063964 commonName VAR_063964 VAR_063964 disease phenotype-associated VAR_063964 phenoCommon Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813] VAR_063965 commonName VAR_063965 VAR_063965 disease phenotype-associated VAR_063965 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] VAR_063966 commonName VAR_063966 VAR_063966 disease phenotype-associated VAR_063966 phenoCommon Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813] VAR_063967 commonName VAR_063967 VAR_063967 disease phenotype-associated VAR_063967 phenoCommon Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813] VAR_063968 commonName VAR_063968 VAR_063968 disease phenotype-associated VAR_063968 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] VAR_063968 phenoCommon Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813] VAR_063969 commonName VAR_063969 VAR_063969 disease phenotype-associated VAR_063969 phenoCommon Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813] VAR_063970 commonName VAR_063970 VAR_063970 disease phenotype-associated VAR_063970 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] VAR_063971 commonName VAR_063971 VAR_063971 disease phenotype-associated VAR_063971 phenoCommon Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] VAR_063972 commonName VAR_063972 VAR_063972 disease phenotype-associated VAR_063972 phenoCommon Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813] VAR_063973 commonName VAR_063973 VAR_063973 disease phenotype-associated VAR_063973 phenoCommon Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813] VAR_063982 commonName VAR_063982 VAR_063982 disease phenotype-associated VAR_063982 phenoCommon Sclerosteosis type 1 (SOST1) [MIM:269500] VAR_063983 commonName VAR_063983 VAR_063983 disease phenotype-associated VAR_063983 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] VAR_063984 commonName VAR_063984 VAR_063984 disease phenotype-associated VAR_063984 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] VAR_063985 commonName VAR_063985 VAR_063985 disease not phenotype-associated VAR_063986 commonName VAR_063986 VAR_063986 disease phenotype-associated VAR_063986 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] VAR_063987 commonName VAR_063987 VAR_063987 disease phenotype-associated VAR_063987 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] VAR_063988 commonName VAR_063988 VAR_063988 disease phenotype-associated VAR_063988 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] VAR_063989 commonName VAR_063989 VAR_063989 disease phenotype-associated VAR_063989 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] VAR_063990 commonName VAR_063990 VAR_063990 disease phenotype-associated VAR_063990 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] VAR_063991 commonName VAR_063991 VAR_063991 disease not phenotype-associated VAR_063992 commonName VAR_063992 VAR_063992 disease phenotype-associated VAR_063992 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] VAR_063993 commonName VAR_063993 VAR_063993 disease phenotype-associated VAR_063993 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] VAR_063994 commonName VAR_063994 VAR_063994 disease phenotype-associated VAR_063994 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] VAR_063995 commonName VAR_063995 VAR_063995 disease not phenotype-associated VAR_063996 commonName VAR_063996 VAR_063996 disease phenotype-associated VAR_063996 phenoCommon Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930] VAR_063998 commonName VAR_063998 VAR_063998 disease phenotype-associated VAR_063998 phenoCommon Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390] VAR_063999 commonName VAR_063999 VAR_063999 disease phenotype-associated VAR_063999 phenoCommon Norrie disease (ND) [MIM:310600] VAR_063999 phenoCommon Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390] VAR_064000 commonName VAR_064000 VAR_064001 commonName VAR_064001 VAR_064001 disease phenotype-associated VAR_064001 phenoCommon Norrie disease (ND) [MIM:310600] VAR_064002 commonName VAR_064002 VAR_064002 disease phenotype-associated VAR_064002 phenoCommon Norrie disease (ND) [MIM:310600] VAR_064003 commonName VAR_064003 VAR_064003 disease phenotype-associated VAR_064003 phenoCommon Norrie disease (ND) [MIM:310600] VAR_064004 commonName VAR_064004 VAR_064004 disease phenotype-associated VAR_064004 phenoCommon Norrie disease (ND) [MIM:310600] VAR_064005 commonName VAR_064005 VAR_064005 disease phenotype-associated VAR_064005 phenoCommon Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390] VAR_064006 commonName VAR_064006 VAR_064006 disease phenotype-associated VAR_064006 phenoCommon Norrie disease (ND) [MIM:310600] VAR_064007 commonName VAR_064007 VAR_064007 disease phenotype-associated VAR_064007 phenoCommon Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390] VAR_064008 commonName VAR_064008 VAR_064008 disease phenotype-associated VAR_064008 phenoCommon Norrie disease (ND) [MIM:310600] VAR_064009 commonName VAR_064009 VAR_064009 disease phenotype-associated VAR_064009 phenoCommon Norrie disease (ND) [MIM:310600] VAR_064010 commonName VAR_064010 VAR_064010 disease phenotype-associated VAR_064010 phenoCommon Norrie disease (ND) [MIM:310600] VAR_064011 commonName VAR_064011 VAR_064011 disease phenotype-associated VAR_064011 phenoCommon Norrie disease (ND) [MIM:310600] VAR_064012 commonName VAR_064012 VAR_064012 disease phenotype-associated VAR_064012 phenoCommon Norrie disease (ND) [MIM:310600] VAR_064013 commonName VAR_064013 VAR_064013 disease phenotype-associated VAR_064013 phenoCommon Norrie disease (ND) [MIM:310600] VAR_064014 commonName VAR_064014 VAR_064014 disease phenotype-associated VAR_064014 phenoCommon Norrie disease (ND) [MIM:310600] VAR_064015 commonName VAR_064015 VAR_064015 disease phenotype-associated VAR_064015 phenoCommon Norrie disease (ND) [MIM:310600] VAR_064016 commonName VAR_064016 VAR_064016 disease phenotype-associated VAR_064016 phenoCommon Norrie disease (ND) [MIM:310600] VAR_064017 commonName VAR_064017 VAR_064017 disease phenotype-associated VAR_064017 phenoCommon Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390] VAR_064018 commonName VAR_064018 VAR_064018 disease phenotype-associated VAR_064018 phenoCommon Norrie disease (ND) [MIM:310600] VAR_064019 commonName VAR_064019 VAR_064020 commonName VAR_064020 VAR_064020 disease phenotype-associated VAR_064020 phenoCommon Norrie disease (ND) [MIM:310600] VAR_064021 commonName VAR_064021 VAR_064021 disease phenotype-associated VAR_064021 phenoCommon Norrie disease (ND) [MIM:310600] VAR_064022 commonName VAR_064022 VAR_064022 disease phenotype-associated VAR_064022 phenoCommon Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390] VAR_064023 commonName VAR_064023 VAR_064023 disease phenotype-associated VAR_064023 phenoCommon Norrie disease (ND) [MIM:310600] VAR_064024 commonName VAR_064024 VAR_064024 disease phenotype-associated VAR_064024 phenoCommon Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390] VAR_064025 commonName VAR_064025 VAR_064025 disease phenotype-associated VAR_064025 phenoCommon Norrie disease (ND) [MIM:310600] VAR_064026 commonName VAR_064026 VAR_064026 disease phenotype-associated VAR_064026 phenoCommon Norrie disease (ND) [MIM:310600] VAR_064027 commonName VAR_064027 VAR_064027 disease not phenotype-associated VAR_064028 commonName VAR_064028 VAR_064028 disease phenotype-associated VAR_064028 phenoCommon Joubert syndrome type 2 (JBTS2) [MIM:608091] VAR_064029 commonName VAR_064029 VAR_064029 disease phenotype-associated VAR_064029 phenoCommon Joubert syndrome type 2 (JBTS2) [MIM:608091] VAR_064029 phenoCommon Meckel syndrome type 2 (MKS2) [MIM:603194] VAR_064030 commonName VAR_064030 VAR_064030 disease phenotype-associated VAR_064030 phenoCommon Meckel syndrome type 2 (MKS2) [MIM:603194] VAR_064032 commonName VAR_064032 VAR_064032 disease phenotype-associated VAR_064032 phenoCommon Fanconi anemia complementation group O (FANCO) [MIM:613390] VAR_064033 commonName VAR_064033 VAR_064035 commonName VAR_064035 VAR_064035 disease phenotype-associated VAR_064035 phenoCommon Hyperoxaluria primary type 3 (HP3) [MIM:613616] VAR_064036 commonName VAR_064036 VAR_064036 disease phenotype-associated VAR_064036 phenoCommon Hyperoxaluria primary type 3 (HP3) [MIM:613616] VAR_064039 commonName VAR_064039 VAR_064039 disease phenotype-associated VAR_064039 phenoCommon Xeroderma pigmentosum complementation group C (XP-C) [MIM:278720] VAR_064040 commonName VAR_064040 VAR_064040 disease phenotype-associated VAR_064040 phenoCommon Cystinuria type 1 (CSNU1) [MIM:220100] VAR_064041 commonName VAR_064041 VAR_064041 disease not phenotype-associated VAR_064042 commonName VAR_064042 VAR_064042 disease phenotype-associated VAR_064042 phenoCommon Progressive familial heart block type 1B (PFHB1B) [MIM:604559] VAR_064043 commonName VAR_064043 VAR_064043 disease phenotype-associated VAR_064043 phenoCommon Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790] VAR_064044 commonName VAR_064044 VAR_064044 disease phenotype-associated VAR_064044 phenoCommon Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790] VAR_064045 commonName VAR_064045 VAR_064045 disease phenotype-associated VAR_064045 phenoCommon Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790] VAR_064050 commonName VAR_064050 VAR_064050 disease not phenotype-associated VAR_064051 commonName VAR_064051 VAR_064051 disease phenotype-associated VAR_064051 phenoCommon Partial colorblindness deutan series (CBD) [MIM:303800] VAR_064052 commonName VAR_064052 VAR_064052 disease phenotype-associated VAR_064052 phenoCommon Cone dystrophy type 5 (COD5) [MIM:303700] VAR_064053 commonName VAR_064053 VAR_064053 disease phenotype-associated VAR_064053 phenoCommon Partial colorblindness deutan series (CBD) [MIM:303800] VAR_064054 commonName VAR_064054 VAR_064054 disease phenotype-associated VAR_064054 phenoCommon Partial colorblindness protan series (CBP) [MIM:303900] VAR_064055 commonName VAR_064055 VAR_064055 disease phenotype-associated VAR_064055 phenoCommon Cardiomyopathy dilated with hypergonadotropic hypogonadism (CMDHH) [MIM:212112] VAR_064056 comment A gastric carcinoma sample VAR_064056 commonName VAR_064056 VAR_064057 comment A pancreatic carcinoma sample VAR_064057 commonName VAR_064057 VAR_064058 commonName VAR_064058 VAR_064059 commonName VAR_064059 VAR_064059 disease not phenotype-associated VAR_064060 commonName VAR_064060 VAR_064061 commonName VAR_064061 VAR_064062 commonName VAR_064062 VAR_064062 disease phenotype-associated VAR_064062 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_064063 commonName VAR_064063 VAR_064063 disease phenotype-associated VAR_064063 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_064064 commonName VAR_064064 VAR_064064 disease phenotype-associated VAR_064064 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_064065 commonName VAR_064065 VAR_064065 disease phenotype-associated VAR_064065 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_064070 commonName VAR_064070 VAR_064070 disease phenotype-associated VAR_064070 phenoCommon Mucopolysaccharidosis type 3D (MPS3D) [MIM:252940] VAR_064072 commonName VAR_064072 VAR_064072 disease phenotype-associated VAR_064072 phenoCommon Mucopolysaccharidosis type 3D (MPS3D) [MIM:252940] VAR_064073 commonName VAR_064073 VAR_064073 disease phenotype-associated VAR_064073 phenoCommon Mucopolysaccharidosis type 3D (MPS3D) [MIM:252940] VAR_064075 commonName VAR_064075 VAR_064075 disease phenotype-associated VAR_064075 phenoCommon Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] VAR_064076 commonName VAR_064076 VAR_064076 disease phenotype-associated VAR_064076 phenoCommon Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] VAR_064077 commonName VAR_064077 VAR_064077 disease phenotype-associated VAR_064077 phenoCommon Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] VAR_064078 commonName VAR_064078 VAR_064078 disease phenotype-associated VAR_064078 phenoCommon Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] VAR_064079 commonName VAR_064079 VAR_064079 disease phenotype-associated VAR_064079 phenoCommon Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] VAR_064081 commonName VAR_064081 VAR_064081 disease phenotype-associated VAR_064081 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_064082 commonName VAR_064082 VAR_064082 disease phenotype-associated VAR_064082 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_064083 commonName VAR_064083 VAR_064083 disease phenotype-associated VAR_064083 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_064084 commonName VAR_064084 VAR_064084 disease phenotype-associated VAR_064084 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_064085 commonName VAR_064085 VAR_064085 disease phenotype-associated VAR_064085 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_064086 commonName VAR_064086 VAR_064086 disease phenotype-associated VAR_064086 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_064087 commonName VAR_064087 VAR_064087 disease phenotype-associated VAR_064087 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_064088 commonName VAR_064088 VAR_064088 disease phenotype-associated VAR_064088 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_064089 commonName VAR_064089 VAR_064089 disease phenotype-associated VAR_064089 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_064090 commonName VAR_064090 VAR_064090 disease phenotype-associated VAR_064090 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_064091 commonName VAR_064091 VAR_064091 disease phenotype-associated VAR_064091 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_064092 commonName VAR_064092 VAR_064092 disease phenotype-associated VAR_064092 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_064093 commonName VAR_064093 VAR_064093 disease phenotype-associated VAR_064093 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_064094 commonName VAR_064094 VAR_064094 disease phenotype-associated VAR_064094 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_064095 commonName VAR_064095 VAR_064095 disease phenotype-associated VAR_064095 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_064096 commonName VAR_064096 VAR_064096 disease phenotype-associated VAR_064096 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_064097 commonName VAR_064097 VAR_064097 disease phenotype-associated VAR_064097 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_064098 commonName VAR_064098 VAR_064098 disease phenotype-associated VAR_064098 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_064099 commonName VAR_064099 VAR_064099 disease phenotype-associated VAR_064099 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_064100 commonName VAR_064100 VAR_064100 disease phenotype-associated VAR_064100 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_064101 commonName VAR_064101 VAR_064101 disease phenotype-associated VAR_064101 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_064102 commonName VAR_064102 VAR_064102 disease phenotype-associated VAR_064102 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_064103 commonName VAR_064103 VAR_064103 disease phenotype-associated VAR_064103 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_064104 commonName VAR_064104 VAR_064104 disease phenotype-associated VAR_064104 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_064105 commonName VAR_064105 VAR_064105 disease phenotype-associated VAR_064105 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_064106 commonName VAR_064106 VAR_064106 disease phenotype-associated VAR_064106 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_064107 commonName VAR_064107 VAR_064107 disease phenotype-associated VAR_064107 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_064108 commonName VAR_064108 VAR_064108 disease phenotype-associated VAR_064108 phenoCommon Cleidocranial dysplasia (CLCD) [MIM:119600] VAR_064109 commonName VAR_064109 VAR_064109 disease phenotype-associated VAR_064109 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_064110 commonName VAR_064110 VAR_064110 disease phenotype-associated VAR_064110 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_064111 commonName VAR_064111 VAR_064111 disease phenotype-associated VAR_064111 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_064112 commonName VAR_064112 VAR_064112 disease phenotype-associated VAR_064112 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_064113 commonName VAR_064113 VAR_064113 disease phenotype-associated VAR_064113 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_064114 commonName VAR_064114 VAR_064115 commonName VAR_064115 VAR_064116 commonName VAR_064116 VAR_064116 disease phenotype-associated VAR_064116 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_064117 commonName VAR_064117 VAR_064118 commonName VAR_064118 VAR_064118 disease phenotype-associated VAR_064118 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_064119 commonName VAR_064119 VAR_064120 commonName VAR_064120 VAR_064120 disease phenotype-associated VAR_064120 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_064121 commonName VAR_064121 VAR_064122 commonName VAR_064122 VAR_064122 disease phenotype-associated VAR_064122 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_064123 commonName VAR_064123 VAR_064124 commonName VAR_064124 VAR_064124 disease phenotype-associated VAR_064124 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_064125 commonName VAR_064125 VAR_064125 disease phenotype-associated VAR_064125 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_064126 commonName VAR_064126 VAR_064126 disease phenotype-associated VAR_064126 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_064127 commonName VAR_064127 VAR_064128 commonName VAR_064128 VAR_064128 disease phenotype-associated VAR_064128 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_064129 commonName VAR_064129 VAR_064129 disease phenotype-associated VAR_064129 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_064130 commonName VAR_064130 VAR_064131 commonName VAR_064131 VAR_064131 disease phenotype-associated VAR_064131 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_064132 commonName VAR_064132 VAR_064132 disease phenotype-associated VAR_064132 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_064133 commonName VAR_064133 VAR_064133 disease phenotype-associated VAR_064133 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_064134 commonName VAR_064134 VAR_064134 disease phenotype-associated VAR_064134 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_064135 commonName VAR_064135 VAR_064135 disease phenotype-associated VAR_064135 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_064136 commonName VAR_064136 VAR_064137 commonName VAR_064137 VAR_064137 disease phenotype-associated VAR_064137 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_064138 commonName VAR_064138 VAR_064138 disease phenotype-associated VAR_064138 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_064139 commonName VAR_064139 VAR_064140 commonName VAR_064140 VAR_064140 disease phenotype-associated VAR_064140 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_064141 commonName VAR_064141 VAR_064141 disease phenotype-associated VAR_064141 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_064142 commonName VAR_064142 VAR_064142 disease phenotype-associated VAR_064142 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_064143 commonName VAR_064143 VAR_064143 disease phenotype-associated VAR_064143 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_064144 commonName VAR_064144 VAR_064144 disease phenotype-associated VAR_064144 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_064145 commonName VAR_064145 VAR_064145 disease phenotype-associated VAR_064145 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_064146 commonName VAR_064146 VAR_064146 disease phenotype-associated VAR_064146 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_064147 commonName VAR_064147 VAR_064147 disease phenotype-associated VAR_064147 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_064148 commonName VAR_064148 VAR_064148 disease phenotype-associated VAR_064148 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_064149 commonName VAR_064149 VAR_064149 disease phenotype-associated VAR_064149 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_064150 commonName VAR_064150 VAR_064150 disease phenotype-associated VAR_064150 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_064151 commonName VAR_064151 VAR_064151 disease phenotype-associated VAR_064151 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_064152 commonName VAR_064152 VAR_064152 disease phenotype-associated VAR_064152 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_064153 commonName VAR_064153 VAR_064153 disease phenotype-associated VAR_064153 phenoCommon Urban-Rifkin-Davis syndrome (URDS) [MIM:613177] VAR_064156 commonName VAR_064156 VAR_064156 disease phenotype-associated VAR_064156 phenoCommon Cardiac valvular dysplasia X-linked (CVDX) [MIM:314400] VAR_064157 commonName VAR_064157 VAR_064157 disease phenotype-associated VAR_064157 phenoCommon Cardiac valvular dysplasia X-linked (CVDX) [MIM:314400] VAR_064158 commonName VAR_064158 VAR_064158 disease phenotype-associated VAR_064158 phenoCommon Cardiac valvular dysplasia X-linked (CVDX) [MIM:314400] VAR_064160 commonName VAR_064160 VAR_064160 disease not phenotype-associated VAR_064161 commonName VAR_064161 VAR_064161 disease not phenotype-associated VAR_064162 commonName VAR_064162 VAR_064162 disease not phenotype-associated VAR_064163 commonName VAR_064163 VAR_064164 commonName VAR_064164 VAR_064165 commonName VAR_064165 VAR_064165 disease not phenotype-associated VAR_064166 commonName VAR_064166 VAR_064166 disease phenotype-associated VAR_064166 phenoCommon Retinitis pigmentosa type 53 (RP53) [MIM:612712] VAR_064167 commonName VAR_064167 VAR_064167 disease not phenotype-associated VAR_064168 commonName VAR_064168 VAR_064169 commonName VAR_064169 VAR_064169 disease phenotype-associated VAR_064169 phenoCommon Retinitis pigmentosa type 53 (RP53) [MIM:612712] VAR_064170 commonName VAR_064170 VAR_064171 commonName VAR_064171 VAR_064172 commonName VAR_064172 VAR_064173 commonName VAR_064173 VAR_064174 commonName VAR_064174 VAR_064175 commonName VAR_064175 VAR_064176 commonName VAR_064176 VAR_064177 commonName VAR_064177 VAR_064178 commonName VAR_064178 VAR_064179 commonName VAR_064179 VAR_064180 commonName VAR_064180 VAR_064180 disease phenotype-associated VAR_064180 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105] VAR_064182 commonName VAR_064182 VAR_064182 disease phenotype-associated VAR_064182 phenoCommon Retinitis pigmentosa type 1 (RP1) [MIM:180100] VAR_064183 commonName VAR_064183 VAR_064183 disease phenotype-associated VAR_064183 phenoCommon Retinitis pigmentosa type 1 (RP1) [MIM:180100] VAR_064184 commonName VAR_064184 VAR_064184 disease phenotype-associated VAR_064184 phenoCommon Retinitis pigmentosa type 55 (RP55) [MIM:613575] VAR_064185 commonName VAR_064185 VAR_064185 disease phenotype-associated VAR_064185 phenoCommon Nephronophthisis type 11 (NPHP11) [MIM:613550] VAR_064186 commonName VAR_064186 VAR_064186 disease phenotype-associated VAR_064186 phenoCommon Nephronophthisis type 11 (NPHP11) [MIM:613550] VAR_064187 commonName VAR_064187 VAR_064187 disease phenotype-associated VAR_064187 phenoCommon Nephronophthisis type 11 (NPHP11) [MIM:613550] VAR_064188 commonName VAR_064188 VAR_064188 disease phenotype-associated VAR_064188 phenoCommon Myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2) [MIM:613561] VAR_064189 commonName VAR_064189 VAR_064189 disease phenotype-associated VAR_064189 phenoCommon Ectodermal dysplasia-syndactyly syndrome type 1 (EDSS1) [MIM:613573] VAR_064190 commonName VAR_064190 VAR_064190 disease phenotype-associated VAR_064190 phenoCommon Hyperphosphatasia with mental retardation (HPMR) [MIM:239300] VAR_064191 commonName VAR_064191 VAR_064191 disease phenotype-associated VAR_064191 phenoCommon Hyperphosphatasia with mental retardation (HPMR) [MIM:239300] VAR_064192 commonName VAR_064192 VAR_064192 disease phenotype-associated VAR_064192 phenoCommon Hyperphosphatasia with mental retardation (HPMR) [MIM:239300] VAR_064193 commonName VAR_064193 VAR_064193 disease phenotype-associated VAR_064193 phenoCommon Hyperphosphatasia with mental retardation (HPMR) [MIM:239300] VAR_064194 commonName VAR_064194 VAR_064194 disease phenotype-associated VAR_064194 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_064195 commonName VAR_064195 VAR_064195 disease phenotype-associated VAR_064195 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_064196 commonName VAR_064196 VAR_064196 disease phenotype-associated VAR_064196 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_064197 commonName VAR_064197 VAR_064197 disease phenotype-associated VAR_064197 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_064198 commonName VAR_064198 VAR_064198 disease phenotype-associated VAR_064198 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_064199 commonName VAR_064199 VAR_064200 commonName VAR_064200 VAR_064200 disease phenotype-associated VAR_064200 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_064201 commonName VAR_064201 VAR_064201 disease phenotype-associated VAR_064201 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_064202 commonName VAR_064202 VAR_064202 disease phenotype-associated VAR_064202 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_064203 commonName VAR_064203 VAR_064203 disease phenotype-associated VAR_064203 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_064204 commonName VAR_064204 VAR_064204 disease phenotype-associated VAR_064204 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_064205 commonName VAR_064205 VAR_064205 disease phenotype-associated VAR_064205 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_064206 commonName VAR_064206 VAR_064206 disease phenotype-associated VAR_064206 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_064207 commonName VAR_064207 VAR_064207 disease phenotype-associated VAR_064207 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_064208 commonName VAR_064208 VAR_064208 disease phenotype-associated VAR_064208 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_064209 commonName VAR_064209 VAR_064209 disease phenotype-associated VAR_064209 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_064210 commonName VAR_064210 VAR_064210 disease phenotype-associated VAR_064210 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_064211 commonName VAR_064211 VAR_064211 disease phenotype-associated VAR_064211 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_064212 commonName VAR_064212 VAR_064212 disease phenotype-associated VAR_064212 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_064213 commonName VAR_064213 VAR_064213 disease phenotype-associated VAR_064213 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_064214 commonName VAR_064214 VAR_064214 disease phenotype-associated VAR_064214 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_064215 commonName VAR_064215 VAR_064215 disease phenotype-associated VAR_064215 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_064216 commonName VAR_064216 VAR_064216 disease phenotype-associated VAR_064216 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_064217 commonName VAR_064217 VAR_064218 commonName VAR_064218 VAR_064218 disease phenotype-associated VAR_064218 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_064219 commonName VAR_064219 VAR_064219 disease phenotype-associated VAR_064219 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_064220 commonName VAR_064220 VAR_064220 disease phenotype-associated VAR_064220 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_064221 commonName VAR_064221 VAR_064222 commonName VAR_064222 VAR_064222 disease phenotype-associated VAR_064222 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_064223 commonName VAR_064223 VAR_064223 disease phenotype-associated VAR_064223 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_064224 commonName VAR_064224 VAR_064224 disease phenotype-associated VAR_064224 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_064225 commonName VAR_064225 VAR_064225 disease phenotype-associated VAR_064225 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_064226 commonName VAR_064226 VAR_064227 commonName VAR_064227 VAR_064227 disease phenotype-associated VAR_064227 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_064228 commonName VAR_064228 VAR_064228 disease phenotype-associated VAR_064228 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_064229 commonName VAR_064229 VAR_064229 disease phenotype-associated VAR_064229 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] VAR_064230 commonName VAR_064230 VAR_064230 disease phenotype-associated VAR_064230 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064231 commonName VAR_064231 VAR_064231 disease phenotype-associated VAR_064231 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064232 commonName VAR_064232 VAR_064232 disease phenotype-associated VAR_064232 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064233 commonName VAR_064233 VAR_064233 disease phenotype-associated VAR_064233 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064234 commonName VAR_064234 VAR_064234 disease phenotype-associated VAR_064234 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064235 commonName VAR_064235 VAR_064235 disease phenotype-associated VAR_064235 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064236 commonName VAR_064236 VAR_064236 disease phenotype-associated VAR_064236 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064237 commonName VAR_064237 VAR_064237 disease phenotype-associated VAR_064237 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064238 commonName VAR_064238 VAR_064238 disease phenotype-associated VAR_064238 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064239 commonName VAR_064239 VAR_064239 disease phenotype-associated VAR_064239 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064240 commonName VAR_064240 VAR_064240 disease phenotype-associated VAR_064240 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064241 commonName VAR_064241 VAR_064241 disease phenotype-associated VAR_064241 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] VAR_064242 commonName VAR_064242 VAR_064242 disease phenotype-associated VAR_064242 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064243 commonName VAR_064243 VAR_064243 disease phenotype-associated VAR_064243 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064244 commonName VAR_064244 VAR_064244 disease phenotype-associated VAR_064244 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064245 commonName VAR_064245 VAR_064245 disease phenotype-associated VAR_064245 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064246 commonName VAR_064246 VAR_064246 disease phenotype-associated VAR_064246 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064247 commonName VAR_064247 VAR_064247 disease phenotype-associated VAR_064247 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064248 commonName VAR_064248 VAR_064248 disease phenotype-associated VAR_064248 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064249 commonName VAR_064249 VAR_064249 disease phenotype-associated VAR_064249 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064250 commonName VAR_064250 VAR_064250 disease phenotype-associated VAR_064250 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064251 commonName VAR_064251 VAR_064251 disease phenotype-associated VAR_064251 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064252 commonName VAR_064252 VAR_064252 disease phenotype-associated VAR_064252 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064253 commonName VAR_064253 VAR_064253 disease phenotype-associated VAR_064253 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064254 commonName VAR_064254 VAR_064254 disease phenotype-associated VAR_064254 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064255 commonName VAR_064255 VAR_064255 disease phenotype-associated VAR_064255 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064256 commonName VAR_064256 VAR_064256 disease phenotype-associated VAR_064256 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064257 commonName VAR_064257 VAR_064257 disease phenotype-associated VAR_064257 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064258 commonName VAR_064258 VAR_064258 disease phenotype-associated VAR_064258 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] VAR_064259 commonName VAR_064259 VAR_064259 disease phenotype-associated VAR_064259 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064260 commonName VAR_064260 VAR_064260 disease phenotype-associated VAR_064260 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064261 commonName VAR_064261 VAR_064261 disease phenotype-associated VAR_064261 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064262 commonName VAR_064262 VAR_064262 disease phenotype-associated VAR_064262 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064263 commonName VAR_064263 VAR_064263 disease phenotype-associated VAR_064263 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064264 commonName VAR_064264 VAR_064264 disease phenotype-associated VAR_064264 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064265 commonName VAR_064265 VAR_064265 disease phenotype-associated VAR_064265 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064266 commonName VAR_064266 VAR_064266 disease phenotype-associated VAR_064266 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064267 commonName VAR_064267 VAR_064267 disease phenotype-associated VAR_064267 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064268 commonName VAR_064268 VAR_064268 disease not phenotype-associated VAR_064269 commonName VAR_064269 VAR_064269 disease phenotype-associated VAR_064269 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064270 commonName VAR_064270 VAR_064270 disease phenotype-associated VAR_064270 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064271 commonName VAR_064271 VAR_064271 disease phenotype-associated VAR_064271 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064272 commonName VAR_064272 VAR_064272 disease phenotype-associated VAR_064272 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064273 commonName VAR_064273 VAR_064273 disease phenotype-associated VAR_064273 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064274 commonName VAR_064274 VAR_064274 disease phenotype-associated VAR_064274 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064275 commonName VAR_064275 VAR_064275 disease phenotype-associated VAR_064275 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064276 commonName VAR_064276 VAR_064276 disease phenotype-associated VAR_064276 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] VAR_064277 commonName VAR_064277 VAR_064277 disease not phenotype-associated VAR_064278 commonName VAR_064278 VAR_064278 disease not phenotype-associated VAR_064279 commonName VAR_064279 VAR_064279 disease not phenotype-associated VAR_064280 commonName VAR_064280 VAR_064280 disease not phenotype-associated VAR_064281 commonName VAR_064281 VAR_064281 disease not phenotype-associated VAR_064282 commonName VAR_064282 VAR_064282 disease not phenotype-associated VAR_064283 commonName VAR_064283 VAR_064283 disease not phenotype-associated VAR_064284 commonName VAR_064284 VAR_064284 disease not phenotype-associated VAR_064285 commonName VAR_064285 VAR_064285 disease not phenotype-associated VAR_064286 commonName VAR_064286 VAR_064286 disease not phenotype-associated VAR_064287 commonName VAR_064287 VAR_064287 disease not phenotype-associated VAR_064288 commonName VAR_064288 VAR_064288 disease not phenotype-associated VAR_064289 commonName VAR_064289 VAR_064289 disease not phenotype-associated VAR_064290 commonName VAR_064290 VAR_064290 disease not phenotype-associated VAR_064291 commonName VAR_064291 VAR_064291 disease not phenotype-associated VAR_064292 commonName VAR_064292 VAR_064292 disease not phenotype-associated VAR_064293 commonName VAR_064293 VAR_064293 disease not phenotype-associated VAR_064294 commonName VAR_064294 VAR_064294 disease not phenotype-associated VAR_064295 commonName VAR_064295 VAR_064295 disease phenotype-associated VAR_064295 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] VAR_064296 commonName VAR_064296 VAR_064296 disease phenotype-associated VAR_064296 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064297 commonName VAR_064297 VAR_064297 disease phenotype-associated VAR_064297 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064298 commonName VAR_064298 VAR_064298 disease phenotype-associated VAR_064298 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064299 commonName VAR_064299 VAR_064299 disease phenotype-associated VAR_064299 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064300 commonName VAR_064300 VAR_064300 disease phenotype-associated VAR_064300 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064301 commonName VAR_064301 VAR_064301 disease phenotype-associated VAR_064301 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064302 commonName VAR_064302 VAR_064302 disease phenotype-associated VAR_064302 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064303 commonName VAR_064303 VAR_064303 disease phenotype-associated VAR_064303 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064304 commonName VAR_064304 VAR_064304 disease phenotype-associated VAR_064304 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064305 commonName VAR_064305 VAR_064305 disease phenotype-associated VAR_064305 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064306 commonName VAR_064306 VAR_064306 disease phenotype-associated VAR_064306 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] VAR_064307 commonName VAR_064307 VAR_064307 disease phenotype-associated VAR_064307 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064308 commonName VAR_064308 VAR_064308 disease phenotype-associated VAR_064308 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064309 commonName VAR_064309 VAR_064309 disease phenotype-associated VAR_064309 phenoCommon Familial hemiplegic migraine type 3 (FHM3) [MIM:609634] VAR_064310 commonName VAR_064310 VAR_064310 disease phenotype-associated VAR_064310 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064311 commonName VAR_064311 VAR_064311 disease phenotype-associated VAR_064311 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064312 commonName VAR_064312 VAR_064312 disease phenotype-associated VAR_064312 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064313 commonName VAR_064313 VAR_064313 disease phenotype-associated VAR_064313 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064314 commonName VAR_064314 VAR_064314 disease phenotype-associated VAR_064314 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064315 commonName VAR_064315 VAR_064315 disease phenotype-associated VAR_064315 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064316 commonName VAR_064316 VAR_064316 disease phenotype-associated VAR_064316 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064317 commonName VAR_064317 VAR_064317 disease phenotype-associated VAR_064317 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064318 commonName VAR_064318 VAR_064318 disease not phenotype-associated VAR_064319 commonName VAR_064319 VAR_064319 disease phenotype-associated VAR_064319 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064320 commonName VAR_064320 VAR_064320 disease phenotype-associated VAR_064320 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064321 commonName VAR_064321 VAR_064321 disease phenotype-associated VAR_064321 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064322 commonName VAR_064322 VAR_064322 disease phenotype-associated VAR_064322 phenoCommon Familial hemiplegic migraine type 3 (FHM3) [MIM:609634] VAR_064323 commonName VAR_064323 VAR_064323 disease phenotype-associated VAR_064323 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064324 commonName VAR_064324 VAR_064324 disease phenotype-associated VAR_064324 phenoCommon Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403] VAR_064325 commonName VAR_064325 VAR_064325 disease phenotype-associated VAR_064325 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064326 commonName VAR_064326 VAR_064326 disease phenotype-associated VAR_064326 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064327 commonName VAR_064327 VAR_064327 disease phenotype-associated VAR_064327 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064328 commonName VAR_064328 VAR_064328 disease phenotype-associated VAR_064328 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064329 commonName VAR_064329 VAR_064329 disease phenotype-associated VAR_064329 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064330 commonName VAR_064330 VAR_064330 disease phenotype-associated VAR_064330 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064331 commonName VAR_064331 VAR_064331 disease not phenotype-associated VAR_064332 commonName VAR_064332 VAR_064332 disease phenotype-associated VAR_064332 phenoCommon Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563] VAR_064333 commonName VAR_064333 VAR_064333 disease phenotype-associated VAR_064333 phenoCommon Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563] VAR_064334 commonName VAR_064334 VAR_064334 disease phenotype-associated VAR_064334 phenoCommon Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563] VAR_064335 commonName VAR_064335 VAR_064335 disease phenotype-associated VAR_064335 phenoCommon Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563] VAR_064336 commonName VAR_064336 VAR_064336 disease phenotype-associated VAR_064336 phenoCommon Maculopathy IMPG2-related (MACLP-IMPG2) [MIM:613581] VAR_064337 commonName VAR_064337 VAR_064337 disease phenotype-associated VAR_064337 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] VAR_064338 commonName VAR_064338 VAR_064338 disease phenotype-associated VAR_064338 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] VAR_064339 commonName VAR_064339 VAR_064339 disease phenotype-associated VAR_064339 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] VAR_064340 commonName VAR_064340 VAR_064340 disease phenotype-associated VAR_064340 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] VAR_064341 commonName VAR_064341 VAR_064341 disease phenotype-associated VAR_064341 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] VAR_064342 commonName VAR_064342 VAR_064342 disease phenotype-associated VAR_064342 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] VAR_064343 commonName VAR_064343 VAR_064343 disease phenotype-associated VAR_064343 phenoCommon Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800] VAR_064344 commonName VAR_064344 VAR_064344 disease phenotype-associated VAR_064344 phenoCommon Parkinson disease type 6 (PARK6) [MIM:605909] VAR_064345 commonName VAR_064345 VAR_064345 disease phenotype-associated VAR_064345 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064346 commonName VAR_064346 VAR_064346 disease phenotype-associated VAR_064346 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064347 commonName VAR_064347 VAR_064347 disease phenotype-associated VAR_064347 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064348 commonName VAR_064348 VAR_064348 disease phenotype-associated VAR_064348 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064349 commonName VAR_064349 VAR_064349 disease phenotype-associated VAR_064349 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064350 commonName VAR_064350 VAR_064350 disease phenotype-associated VAR_064350 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064351 commonName VAR_064351 VAR_064351 disease phenotype-associated VAR_064351 phenoCommon Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208] VAR_064352 commonName VAR_064352 VAR_064352 disease not phenotype-associated VAR_064353 commonName VAR_064353 VAR_064353 disease not phenotype-associated VAR_064354 commonName VAR_064354 VAR_064354 disease not phenotype-associated VAR_064355 commonName VAR_064355 VAR_064355 disease not phenotype-associated VAR_064356 commonName VAR_064356 VAR_064356 disease not phenotype-associated VAR_064357 commonName VAR_064357 VAR_064357 disease phenotype-associated VAR_064357 phenoCommon Colorectal cancer type 1 (CRCS1) [MIM:608812] VAR_064358 commonName VAR_064358 VAR_064358 disease phenotype-associated VAR_064358 phenoCommon Colorectal cancer type 1 (CRCS1) [MIM:608812] VAR_064359 commonName VAR_064359 VAR_064359 disease phenotype-associated VAR_064359 phenoCommon Colorectal cancer type 1 (CRCS1) [MIM:608812] VAR_064360 commonName VAR_064360 VAR_064360 disease phenotype-associated VAR_064360 phenoCommon Colorectal cancer type 1 (CRCS1) [MIM:608812] VAR_064361 commonName VAR_064361 VAR_064361 disease phenotype-associated VAR_064361 phenoCommon Colorectal cancer type 1 (CRCS1) [MIM:608812] VAR_064362 commonName VAR_064362 VAR_064362 disease phenotype-associated VAR_064362 phenoCommon Colorectal cancer type 1 (CRCS1) [MIM:608812] VAR_064363 commonName VAR_064363 VAR_064363 disease phenotype-associated VAR_064363 phenoCommon Colorectal cancer type 1 (CRCS1) [MIM:608812] VAR_064364 commonName VAR_064364 VAR_064364 disease not phenotype-associated VAR_064365 commonName VAR_064365 VAR_064365 disease phenotype-associated VAR_064365 phenoCommon Familial infantile myoclonic epilepsy (FIME) [MIM:605021] VAR_064366 commonName VAR_064366 VAR_064366 disease phenotype-associated VAR_064366 phenoCommon Familial infantile myoclonic epilepsy (FIME) [MIM:605021] VAR_064368 commonName VAR_064368 VAR_064368 disease not phenotype-associated VAR_064369 commonName VAR_064369 VAR_064369 disease not phenotype-associated VAR_064370 commonName VAR_064370 VAR_064370 disease not phenotype-associated VAR_064371 commonName VAR_064371 VAR_064371 disease not phenotype-associated VAR_064372 commonName VAR_064372 VAR_064372 disease not phenotype-associated VAR_064373 commonName VAR_064373 VAR_064373 disease not phenotype-associated VAR_064374 commonName VAR_064374 VAR_064374 disease not phenotype-associated VAR_064375 commonName VAR_064375 VAR_064375 disease not phenotype-associated VAR_064376 commonName VAR_064376 VAR_064376 disease not phenotype-associated VAR_064377 commonName VAR_064377 VAR_064377 disease not phenotype-associated VAR_064378 commonName VAR_064378 VAR_064378 disease phenotype-associated VAR_064378 phenoCommon Kabuki syndrome type 1 (KABUK1) [MIM:147920] VAR_064379 commonName VAR_064379 VAR_064379 disease phenotype-associated VAR_064379 phenoCommon Kabuki syndrome type 1 (KABUK1) [MIM:147920] VAR_064380 commonName VAR_064380 VAR_064380 disease phenotype-associated VAR_064380 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_064381 commonName VAR_064381 VAR_064381 disease phenotype-associated VAR_064381 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_064382 commonName VAR_064382 VAR_064382 disease phenotype-associated VAR_064382 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_064383 commonName VAR_064383 VAR_064383 disease phenotype-associated VAR_064383 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_064384 commonName VAR_064384 VAR_064384 disease phenotype-associated VAR_064384 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_064385 commonName VAR_064385 VAR_064385 disease phenotype-associated VAR_064385 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_064386 commonName VAR_064386 VAR_064386 disease phenotype-associated VAR_064386 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_064387 commonName VAR_064387 VAR_064387 disease phenotype-associated VAR_064387 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_064388 commonName VAR_064388 VAR_064388 disease phenotype-associated VAR_064388 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_064389 commonName VAR_064389 VAR_064389 disease phenotype-associated VAR_064389 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_064390 commonName VAR_064390 VAR_064390 disease phenotype-associated VAR_064390 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_064391 commonName VAR_064391 VAR_064391 disease phenotype-associated VAR_064391 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_064392 commonName VAR_064392 VAR_064392 disease phenotype-associated VAR_064392 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_064393 commonName VAR_064393 VAR_064393 disease phenotype-associated VAR_064393 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_064394 commonName VAR_064394 VAR_064394 disease phenotype-associated VAR_064394 phenoCommon Polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:613095] VAR_064395 commonName VAR_064395 VAR_064395 disease not phenotype-associated VAR_064396 commonName VAR_064396 VAR_064396 disease phenotype-associated VAR_064396 phenoCommon Congenital variant of Rett syndrome (RTTCV) [MIM:613454] VAR_064397 commonName VAR_064397 VAR_064397 disease not phenotype-associated VAR_064398 commonName VAR_064398 VAR_064402 commonName VAR_064402 VAR_064402 disease phenotype-associated VAR_064402 phenoCommon Spinocerebellar ataxia type 28 (SCA28) [MIM:610246] VAR_064403 commonName VAR_064403 VAR_064403 disease phenotype-associated VAR_064403 phenoCommon Spinocerebellar ataxia type 28 (SCA28) [MIM:610246] VAR_064404 commonName VAR_064404 VAR_064404 disease phenotype-associated VAR_064404 phenoCommon Spinocerebellar ataxia type 28 (SCA28) [MIM:610246] VAR_064405 commonName VAR_064405 VAR_064405 disease phenotype-associated VAR_064405 phenoCommon Spinocerebellar ataxia type 28 (SCA28) [MIM:610246] VAR_064406 commonName VAR_064406 VAR_064406 disease phenotype-associated VAR_064406 phenoCommon Spinocerebellar ataxia type 28 (SCA28) [MIM:610246] VAR_064407 commonName VAR_064407 VAR_064407 disease phenotype-associated VAR_064407 phenoCommon Spinocerebellar ataxia type 28 (SCA28) [MIM:610246] VAR_064408 commonName VAR_064408 VAR_064408 disease phenotype-associated VAR_064408 phenoCommon Spinocerebellar ataxia type 28 (SCA28) [MIM:610246] VAR_064409 commonName VAR_064409 VAR_064409 disease phenotype-associated VAR_064409 phenoCommon Keratosis follicularis spinulosa decalvans X-linked (KFSDX) [MIM:308800] VAR_064410 commonName VAR_064410 VAR_064410 disease phenotype-associated VAR_064410 phenoCommon Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790] VAR_064412 commonName VAR_064412 VAR_064412 disease phenotype-associated VAR_064412 phenoCommon Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790] VAR_064413 commonName VAR_064413 VAR_064413 disease phenotype-associated VAR_064413 phenoCommon Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790] VAR_064414 commonName VAR_064414 VAR_064414 disease phenotype-associated VAR_064414 phenoCommon Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790] VAR_064415 commonName VAR_064415 VAR_064415 disease phenotype-associated VAR_064415 phenoCommon Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790] VAR_064416 commonName VAR_064416 VAR_064416 disease phenotype-associated VAR_064416 phenoCommon Brachydactyly type A1 (BDA1) [MIM:112500] VAR_064417 commonName VAR_064417 VAR_064417 disease phenotype-associated VAR_064417 phenoCommon Retinitis pigmentosa type 25 (RP25) [MIM:602772] VAR_064418 commonName VAR_064418 VAR_064418 disease phenotype-associated VAR_064418 phenoCommon Retinitis pigmentosa type 25 (RP25) [MIM:602772] VAR_064421 commonName VAR_064421 VAR_064421 disease phenotype-associated VAR_064421 phenoCommon Mononeuropathy of the median nerve mild (MNMN) [MIM:613353] VAR_064422 commonName VAR_064422 VAR_064422 disease phenotype-associated VAR_064422 phenoCommon Corneal dystrophy Fuchs endothelial type 4 (FECD4) [MIM:613268] VAR_064423 commonName VAR_064423 VAR_064423 disease phenotype-associated VAR_064423 phenoCommon Corneal dystrophy Fuchs endothelial type 4 (FECD4) [MIM:613268] VAR_064424 commonName VAR_064424 VAR_064424 disease phenotype-associated VAR_064424 phenoCommon Corneal dystrophy Fuchs endothelial type 4 (FECD4) [MIM:613268] VAR_064425 commonName VAR_064425 VAR_064425 disease phenotype-associated VAR_064425 phenoCommon Corneal dystrophy Fuchs endothelial type 4 (FECD4) [MIM:613268] VAR_064426 commonName VAR_064426 VAR_064426 disease phenotype-associated VAR_064426 phenoCommon Corneal dystrophy Fuchs endothelial type 4 (FECD4) [MIM:613268] VAR_064427 commonName VAR_064427 VAR_064427 disease phenotype-associated VAR_064427 phenoCommon Corneal dystrophy Fuchs endothelial type 4 (FECD4) [MIM:613268] VAR_064428 commonName VAR_064428 VAR_064428 disease phenotype-associated VAR_064428 phenoCommon Corneal dystrophy Fuchs endothelial type 4 (FECD4) [MIM:613268] VAR_064429 commonName VAR_064429 VAR_064430 commonName VAR_064430 VAR_064430 disease not phenotype-associated VAR_064431 commonName VAR_064431 VAR_064431 disease phenotype-associated VAR_064431 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200] VAR_064432 commonName VAR_064432 VAR_064432 disease phenotype-associated VAR_064432 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200] VAR_064433 commonName VAR_064433 VAR_064433 disease phenotype-associated VAR_064433 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200] VAR_064434 commonName VAR_064434 VAR_064434 disease phenotype-associated VAR_064434 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200] VAR_064435 commonName VAR_064435 VAR_064435 disease phenotype-associated VAR_064435 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200] VAR_064436 commonName VAR_064436 VAR_064436 disease phenotype-associated VAR_064436 phenoCommon Leukodystrophy globoid cell (GLD) [MIM:245200] VAR_064438 commonName VAR_064438 VAR_064439 commonName VAR_064439 VAR_064440 commonName VAR_064440 VAR_064441 commonName VAR_064441 VAR_064442 commonName VAR_064442 VAR_064442 disease not phenotype-associated VAR_064443 commonName VAR_064443 VAR_064444 commonName VAR_064444 VAR_064444 disease phenotype-associated VAR_064444 phenoCommon Autoimmune disease type 6 (AIS6) [MIM:613551] VAR_064445 commonName VAR_064445 VAR_064445 disease phenotype-associated VAR_064445 phenoCommon Autoimmune disease type 6 (AIS6) [MIM:613551] VAR_064446 commonName VAR_064446 VAR_064446 disease phenotype-associated VAR_064446 phenoCommon Autoimmune disease type 6 (AIS6) [MIM:613551] VAR_064447 commonName VAR_064447 VAR_064447 disease phenotype-associated VAR_064447 phenoCommon Autoimmune disease type 6 (AIS6) [MIM:613551] VAR_064448 commonName VAR_064448 VAR_064448 disease phenotype-associated VAR_064448 phenoCommon Autoimmune disease type 6 (AIS6) [MIM:613551] VAR_064449 commonName VAR_064449 VAR_064450 commonName VAR_064450 VAR_064451 commonName VAR_064451 VAR_064451 disease phenotype-associated VAR_064451 phenoCommon Autoimmune disease type 6 (AIS6) [MIM:613551] VAR_064452 commonName VAR_064452 VAR_064452 disease phenotype-associated VAR_064452 phenoCommon Autoimmune disease type 6 (AIS6) [MIM:613551] VAR_064453 commonName VAR_064453 VAR_064454 commonName VAR_064454 VAR_064454 disease phenotype-associated VAR_064454 phenoCommon Autoimmune disease type 6 (AIS6) [MIM:613551] VAR_064455 commonName VAR_064455 VAR_064456 commonName VAR_064456 VAR_064457 commonName VAR_064457 VAR_064458 commonName VAR_064458 VAR_064458 disease phenotype-associated VAR_064458 phenoCommon Autoimmune disease type 6 (AIS6) [MIM:613551] VAR_064466 commonName VAR_064466 VAR_064466 disease not phenotype-associated VAR_064467 commonName VAR_064467 VAR_064467 disease phenotype-associated VAR_064467 phenoCommon Retinitis pigmentosa type 1 (RP1) [MIM:180100] VAR_064468 commonName VAR_064468 VAR_064468 disease phenotype-associated VAR_064468 phenoCommon Retinitis pigmentosa type 1 (RP1) [MIM:180100] VAR_064469 commonName VAR_064469 VAR_064469 disease not phenotype-associated VAR_064470 commonName VAR_064470 VAR_064470 disease not phenotype-associated VAR_064471 commonName VAR_064471 VAR_064471 disease phenotype-associated VAR_064471 phenoCommon Retinitis pigmentosa type 1 (RP1) [MIM:180100] VAR_064472 commonName VAR_064472 VAR_064472 disease phenotype-associated VAR_064472 phenoCommon Retinitis pigmentosa type 1 (RP1) [MIM:180100] VAR_064473 commonName VAR_064473 VAR_064473 disease phenotype-associated VAR_064473 phenoCommon Retinitis pigmentosa type 1 (RP1) [MIM:180100] VAR_064474 commonName VAR_064474 VAR_064474 disease phenotype-associated VAR_064474 phenoCommon Retinitis pigmentosa type 1 (RP1) [MIM:180100] VAR_064475 commonName VAR_064475 VAR_064475 disease phenotype-associated VAR_064475 phenoCommon Popliteal pterygium syndrome (PPS) [MIM:119500] VAR_064477 commonName VAR_064477 VAR_064477 disease not phenotype-associated VAR_064478 commonName VAR_064478 VAR_064478 disease not phenotype-associated VAR_064480 commonName VAR_064480 VAR_064480 disease phenotype-associated VAR_064480 phenoCommon Limb pelvis hypoplasia aplasia syndrome (LPHAS) [MIM:276820] VAR_064481 commonName VAR_064481 VAR_064481 disease phenotype-associated VAR_064481 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] VAR_064482 commonName VAR_064482 VAR_064482 disease phenotype-associated VAR_064482 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] VAR_064483 commonName VAR_064483 VAR_064483 disease phenotype-associated VAR_064483 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] VAR_064484 commonName VAR_064484 VAR_064484 disease phenotype-associated VAR_064484 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] VAR_064485 commonName VAR_064485 VAR_064485 disease phenotype-associated VAR_064485 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] VAR_064486 commonName VAR_064486 VAR_064486 disease phenotype-associated VAR_064486 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] VAR_064487 commonName VAR_064487 VAR_064487 disease phenotype-associated VAR_064487 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] VAR_064488 commonName VAR_064488 VAR_064488 disease phenotype-associated VAR_064488 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] VAR_064489 commonName VAR_064489 VAR_064489 disease phenotype-associated VAR_064489 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] VAR_064490 commonName VAR_064490 VAR_064490 disease phenotype-associated VAR_064490 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] VAR_064491 commonName VAR_064491 VAR_064491 disease not phenotype-associated VAR_064492 commonName VAR_064492 VAR_064492 disease not phenotype-associated VAR_064493 commonName VAR_064493 VAR_064493 disease phenotype-associated VAR_064493 phenoCommon Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773] VAR_064494 commonName VAR_064494 VAR_064494 disease phenotype-associated VAR_064494 phenoCommon Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773] VAR_064495 commonName VAR_064495 VAR_064495 disease phenotype-associated VAR_064495 phenoCommon Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773] VAR_064496 commonName VAR_064496 VAR_064496 disease phenotype-associated VAR_064496 phenoCommon Brain small vessel disease with hemorrhage (BSVDH) [MIM:607595] VAR_064497 commonName VAR_064497 VAR_064497 disease phenotype-associated VAR_064497 phenoCommon Brain small vessel disease with hemorrhage (BSVDH) [MIM:607595] VAR_064498 commonName VAR_064498 VAR_064498 disease phenotype-associated VAR_064498 phenoCommon Brain small vessel disease with hemorrhage (BSVDH) [MIM:607595] VAR_064499 commonName VAR_064499 VAR_064499 disease phenotype-associated VAR_064499 phenoCommon Familial porencephaly (POREN1) [MIM:175780] VAR_064500 commonName VAR_064500 VAR_064500 disease phenotype-associated VAR_064500 phenoCommon Ichthyosis prematurity syndrome (IPS) [MIM:608649] VAR_064501 commonName VAR_064501 VAR_064501 disease phenotype-associated VAR_064501 phenoCommon Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612] VAR_064502 commonName VAR_064502 VAR_064502 disease phenotype-associated VAR_064502 phenoCommon Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612] VAR_064504 commonName VAR_064504 VAR_064504 disease phenotype-associated VAR_064504 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_064505 commonName VAR_064505 VAR_064505 disease phenotype-associated VAR_064505 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_064506 commonName VAR_064506 VAR_064506 disease phenotype-associated VAR_064506 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_064507 commonName VAR_064507 VAR_064508 commonName VAR_064508 VAR_064508 disease phenotype-associated VAR_064508 phenoCommon Neutropenia severe congenital autosomal recessive type 4 (SCN4) [MIM:612541] VAR_064509 commonName VAR_064509 VAR_064509 disease phenotype-associated VAR_064509 phenoCommon Dursun syndrome (DURSS) [MIM:612541] VAR_064510 commonName VAR_064510 VAR_064510 disease phenotype-associated VAR_064510 phenoCommon Neutropenia severe congenital autosomal recessive type 4 (SCN4) [MIM:612541] VAR_064511 commonName VAR_064511 VAR_064511 disease phenotype-associated VAR_064511 phenoCommon Neutropenia severe congenital autosomal recessive type 4 (SCN4) [MIM:612541] VAR_064512 commonName VAR_064512 VAR_064512 disease phenotype-associated VAR_064512 phenoCommon Neutropenia severe congenital autosomal dominant type 1 (SCN1) [MIM:202700] VAR_064513 commonName VAR_064513 VAR_064513 disease phenotype-associated VAR_064513 phenoCommon Neutropenia severe congenital autosomal dominant type 1 (SCN1) [MIM:202700] VAR_064514 commonName VAR_064514 VAR_064514 disease phenotype-associated VAR_064514 phenoCommon Neutropenia severe congenital autosomal recessive type 3 (SCN3) [MIM:610738] VAR_064515 commonName VAR_064515 VAR_064515 disease phenotype-associated VAR_064515 phenoCommon Neutropenia severe congenital autosomal recessive type 3 (SCN3) [MIM:610738] VAR_064516 commonName VAR_064516 VAR_064516 disease phenotype-associated VAR_064516 phenoCommon Moyamoya disease type 5 (MYMY5) [MIM:614042] VAR_064516 phenoCommon Multisystemic smooth muscle dysfunction syndrome (MSMDYS) [MIM:613834] VAR_064517 commonName VAR_064517 VAR_064517 disease phenotype-associated VAR_064517 phenoCommon Metatropic dysplasia (MTD) [MIM:156530] VAR_064518 commonName VAR_064518 VAR_064519 commonName VAR_064519 VAR_064519 disease phenotype-associated VAR_064519 phenoCommon Metatropic dysplasia (MTD) [MIM:156530] VAR_064520 commonName VAR_064520 VAR_064520 disease phenotype-associated VAR_064520 phenoCommon Metatropic dysplasia (MTD) [MIM:156530] VAR_064521 commonName VAR_064521 VAR_064521 disease phenotype-associated VAR_064521 phenoCommon Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252] VAR_064522 commonName VAR_064522 VAR_064522 disease phenotype-associated VAR_064522 phenoCommon Metatropic dysplasia (MTD) [MIM:156530] VAR_064523 commonName VAR_064523 VAR_064523 disease phenotype-associated VAR_064523 phenoCommon Metatropic dysplasia (MTD) [MIM:156530] VAR_064524 commonName VAR_064524 VAR_064524 disease phenotype-associated VAR_064524 phenoCommon Metatropic dysplasia (MTD) [MIM:156530] VAR_064526 commonName VAR_064526 VAR_064526 disease phenotype-associated VAR_064526 phenoCommon Metatropic dysplasia (MTD) [MIM:156530] VAR_064527 commonName VAR_064527 VAR_064527 disease phenotype-associated VAR_064527 phenoCommon Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252] VAR_064528 commonName VAR_064528 VAR_064528 disease phenotype-associated VAR_064528 phenoCommon Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252] VAR_064529 commonName VAR_064529 VAR_064530 commonName VAR_064530 VAR_064530 disease phenotype-associated VAR_064530 phenoCommon Metatropic dysplasia (MTD) [MIM:156530] VAR_064531 commonName VAR_064531 VAR_064531 disease phenotype-associated VAR_064531 phenoCommon Metatropic dysplasia (MTD) [MIM:156530] VAR_064532 commonName VAR_064532 VAR_064532 disease phenotype-associated VAR_064532 phenoCommon Metatropic dysplasia (MTD) [MIM:156530] VAR_064533 commonName VAR_064533 VAR_064533 disease phenotype-associated VAR_064533 phenoCommon Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252] VAR_064534 commonName VAR_064534 VAR_064534 disease phenotype-associated VAR_064534 phenoCommon Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252] VAR_064535 commonName VAR_064535 VAR_064535 disease phenotype-associated VAR_064535 phenoCommon Metatropic dysplasia (MTD) [MIM:156530] VAR_064536 commonName VAR_064536 VAR_064536 disease phenotype-associated VAR_064536 phenoCommon Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252] VAR_064537 commonName VAR_064537 VAR_064537 disease phenotype-associated VAR_064537 phenoCommon Metatropic dysplasia (MTD) [MIM:156530] VAR_064537 phenoCommon Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252] VAR_064538 commonName VAR_064538 VAR_064538 disease phenotype-associated VAR_064538 phenoCommon Metatropic dysplasia (MTD) [MIM:156530] VAR_064539 commonName VAR_064539 VAR_064539 disease phenotype-associated VAR_064539 phenoCommon Metatropic dysplasia (MTD) [MIM:156530] VAR_064540 commonName VAR_064540 VAR_064540 disease phenotype-associated VAR_064540 phenoCommon Metatropic dysplasia (MTD) [MIM:156530] VAR_064541 commonName VAR_064541 VAR_064541 disease phenotype-associated VAR_064541 phenoCommon Multiple synostoses syndrome type 1 (SYNS1) [MIM:186500] VAR_064542 commonName VAR_064542 VAR_064542 disease phenotype-associated VAR_064542 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] VAR_064543 commonName VAR_064543 VAR_064543 disease phenotype-associated VAR_064543 phenoCommon Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590] VAR_064545 commonName VAR_064545 VAR_064545 disease phenotype-associated VAR_064545 phenoCommon Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470] VAR_064546 commonName VAR_064546 VAR_064546 disease phenotype-associated VAR_064546 phenoCommon Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470] VAR_064547 commonName VAR_064547 VAR_064547 disease phenotype-associated VAR_064547 phenoCommon Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470] VAR_064549 commonName VAR_064549 VAR_064549 disease not phenotype-associated VAR_064554 commonName VAR_064554 VAR_064554 disease phenotype-associated VAR_064554 phenoCommon Hyperphosphatemic familial tumoral calcinosis (HFTC) [MIM:211900] VAR_064555 commonName VAR_064555 VAR_064555 disease phenotype-associated VAR_064555 phenoCommon Ehlers-Danlos syndrome musculocontractural type (EDSMC) [MIM:601776] VAR_064556 commonName VAR_064556 VAR_064556 disease phenotype-associated VAR_064556 phenoCommon Ehlers-Danlos syndrome musculocontractural type (EDSMC) [MIM:601776] VAR_064569 commonName VAR_064569 VAR_064570 commonName VAR_064570 VAR_064573 commonName VAR_064573 VAR_064573 disease not phenotype-associated VAR_064574 commonName VAR_064574 VAR_064574 disease not phenotype-associated VAR_064575 commonName VAR_064575 VAR_064575 disease not phenotype-associated VAR_064576 commonName VAR_064576 VAR_064576 disease not phenotype-associated VAR_064577 commonName VAR_064577 VAR_064577 disease not phenotype-associated VAR_064578 commonName VAR_064578 VAR_064578 disease not phenotype-associated VAR_064580 commonName VAR_064580 VAR_064580 disease not phenotype-associated VAR_064581 commonName VAR_064581 VAR_064581 disease phenotype-associated VAR_064581 phenoCommon Cranioectodermal dysplasia type 2 (CED2) [MIM:613610] VAR_064582 commonName VAR_064582 VAR_064582 disease phenotype-associated VAR_064582 phenoCommon Cranioectodermal dysplasia type 2 (CED2) [MIM:613610] VAR_064583 commonName VAR_064583 VAR_064583 disease phenotype-associated VAR_064583 phenoCommon Spinocerebellar ataxia autosomal recessive type 5 (SCAR5) [MIM:606937] VAR_064584 commonName VAR_064584 VAR_064584 disease not phenotype-associated VAR_064585 commonName VAR_064585 VAR_064585 disease not phenotype-associated VAR_064586 commonName VAR_064586 VAR_064586 disease not phenotype-associated VAR_064587 commonName VAR_064587 VAR_064587 disease not phenotype-associated VAR_064588 commonName VAR_064588 VAR_064588 disease not phenotype-associated VAR_064589 commonName VAR_064589 VAR_064589 disease not phenotype-associated VAR_064590 commonName VAR_064590 VAR_064590 disease not phenotype-associated VAR_064591 commonName VAR_064591 VAR_064591 disease not phenotype-associated VAR_064615 commonName VAR_064615 VAR_064615 disease phenotype-associated VAR_064615 phenoCommon Mitochondrial complex III deficiency (MT-C3D) [MIM:124000] VAR_064616 commonName VAR_064616 VAR_064616 disease phenotype-associated VAR_064616 phenoCommon Mitochondrial complex III deficiency (MT-C3D) [MIM:124000] VAR_064617 commonName VAR_064617 VAR_064617 disease phenotype-associated VAR_064617 phenoCommon Mitochondrial complex III deficiency (MT-C3D) [MIM:124000] VAR_064618 commonName VAR_064618 VAR_064618 disease phenotype-associated VAR_064618 phenoCommon Mitochondrial complex III deficiency (MT-C3D) [MIM:124000] VAR_064619 commonName VAR_064619 VAR_064619 disease phenotype-associated VAR_064619 phenoCommon Thyroid dyshormonogenesis 6 (TDH6) [MIM:607200] VAR_064621 commonName VAR_064621 VAR_064621 disease phenotype-associated VAR_064621 phenoCommon Spastic paraplegia autosomal recessive type 35 (SPG35) [MIM:612319] VAR_064625 commonName VAR_064625 VAR_064625 disease not phenotype-associated VAR_064626 commonName VAR_064626 VAR_064626 disease not phenotype-associated VAR_064627 commonName VAR_064627 VAR_064627 disease not phenotype-associated VAR_064629 commonName VAR_064629 VAR_064629 disease not phenotype-associated VAR_064630 commonName VAR_064630 VAR_064630 disease not phenotype-associated VAR_064631 commonName VAR_064631 VAR_064631 disease not phenotype-associated VAR_064632 commonName VAR_064632 VAR_064632 disease not phenotype-associated VAR_064633 commonName VAR_064633 VAR_064633 disease not phenotype-associated VAR_064634 commonName VAR_064634 VAR_064634 disease not phenotype-associated VAR_064635 commonName VAR_064635 VAR_064635 disease not phenotype-associated VAR_064636 commonName VAR_064636 VAR_064636 disease not phenotype-associated VAR_064637 commonName VAR_064637 VAR_064637 disease phenotype-associated VAR_064637 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] VAR_064638 commonName VAR_064638 VAR_064638 disease phenotype-associated VAR_064638 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] VAR_064640 commonName VAR_064640 VAR_064640 disease phenotype-associated VAR_064640 phenoCommon Osteopetrosis autosomal dominant type 2 (OPTA2) [MIM:166600] VAR_064641 commonName VAR_064641 VAR_064641 disease phenotype-associated VAR_064641 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] VAR_064642 commonName VAR_064642 VAR_064642 disease phenotype-associated VAR_064642 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] VAR_064643 commonName VAR_064643 VAR_064643 disease phenotype-associated VAR_064643 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] VAR_064644 commonName VAR_064644 VAR_064644 disease phenotype-associated VAR_064644 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] VAR_064645 commonName VAR_064645 VAR_064645 disease phenotype-associated VAR_064645 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] VAR_064646 commonName VAR_064646 VAR_064646 disease phenotype-associated VAR_064646 phenoCommon Osteopetrosis autosomal dominant type 2 (OPTA2) [MIM:166600] VAR_064647 commonName VAR_064647 VAR_064647 disease phenotype-associated VAR_064647 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] VAR_064648 commonName VAR_064648 VAR_064648 disease phenotype-associated VAR_064648 phenoCommon Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490] VAR_064653 commonName VAR_064653 VAR_064654 commonName VAR_064654 VAR_064656 commonName VAR_064656 VAR_064657 commonName VAR_064657 VAR_064658 commonName VAR_064658 VAR_064659 commonName VAR_064659 VAR_064660 commonName VAR_064660 VAR_064661 commonName VAR_064661 VAR_064662 commonName VAR_064662 VAR_064663 commonName VAR_064663 VAR_064664 commonName VAR_064664 VAR_064665 commonName VAR_064665 VAR_064666 commonName VAR_064666 VAR_064667 commonName VAR_064667 VAR_064668 commonName VAR_064668 VAR_064669 commonName VAR_064669 VAR_064670 commonName VAR_064670 VAR_064671 commonName VAR_064671 VAR_064672 commonName VAR_064672 VAR_064673 commonName VAR_064673 VAR_064674 commonName VAR_064674 VAR_064674 disease not phenotype-associated VAR_064675 commonName VAR_064675 VAR_064676 commonName VAR_064676 VAR_064677 commonName VAR_064677 VAR_064678 commonName VAR_064678 VAR_064679 commonName VAR_064679 VAR_064680 commonName VAR_064680 VAR_064681 commonName VAR_064681 VAR_064682 commonName VAR_064682 VAR_064683 commonName VAR_064683 VAR_064685 commonName VAR_064685 VAR_064686 commonName VAR_064686 VAR_064687 commonName VAR_064687 VAR_064688 commonName VAR_064688 VAR_064689 commonName VAR_064689 VAR_064690 commonName VAR_064690 VAR_064691 commonName VAR_064691 VAR_064692 commonName VAR_064692 VAR_064693 commonName VAR_064693 VAR_064694 commonName VAR_064694 VAR_064695 commonName VAR_064695 VAR_064697 commonName VAR_064697 VAR_064699 commonName VAR_064699 VAR_064700 commonName VAR_064700 VAR_064701 commonName VAR_064701 VAR_064701 disease not phenotype-associated VAR_064702 commonName VAR_064702 VAR_064703 commonName VAR_064703 VAR_064704 commonName VAR_064704 VAR_064705 commonName VAR_064705 VAR_064707 commonName VAR_064707 VAR_064708 commonName VAR_064708 VAR_064709 commonName VAR_064709 VAR_064710 commonName VAR_064710 VAR_064711 commonName VAR_064711 VAR_064712 commonName VAR_064712 VAR_064713 commonName VAR_064713 VAR_064714 commonName VAR_064714 VAR_064715 commonName VAR_064715 VAR_064716 commonName VAR_064716 VAR_064717 commonName VAR_064717 VAR_064718 commonName VAR_064718 VAR_064719 commonName VAR_064719 VAR_064720 commonName VAR_064720 VAR_064721 commonName VAR_064721 VAR_064723 commonName VAR_064723 VAR_064725 commonName VAR_064725 VAR_064726 commonName VAR_064726 VAR_064727 commonName VAR_064727 VAR_064729 commonName VAR_064729 VAR_064730 commonName VAR_064730 VAR_064731 commonName VAR_064731 VAR_064733 commonName VAR_064733 VAR_064734 commonName VAR_064734 VAR_064735 commonName VAR_064735 VAR_064736 commonName VAR_064736 VAR_064737 commonName VAR_064737 VAR_064738 commonName VAR_064738 VAR_064739 commonName VAR_064739 VAR_064741 commonName VAR_064741 VAR_064742 commonName VAR_064742 VAR_064743 commonName VAR_064743 VAR_064744 commonName VAR_064744 VAR_064745 commonName VAR_064745 VAR_064746 commonName VAR_064746 VAR_064747 commonName VAR_064747 VAR_064748 commonName VAR_064748 VAR_064749 commonName VAR_064749 VAR_064751 commonName VAR_064751 VAR_064752 commonName VAR_064752 VAR_064753 commonName VAR_064753 VAR_064754 commonName VAR_064754 VAR_064755 commonName VAR_064755 VAR_064756 commonName VAR_064756 VAR_064757 commonName VAR_064757 VAR_064758 commonName VAR_064758 VAR_064759 commonName VAR_064759 VAR_064760 commonName VAR_064760 VAR_064761 commonName VAR_064761 VAR_064762 commonName VAR_064762 VAR_064766 commonName VAR_064766 VAR_064766 disease not phenotype-associated VAR_064767 commonName VAR_064767 VAR_064767 disease not phenotype-associated VAR_064769 commonName VAR_064769 VAR_064769 disease not phenotype-associated VAR_064770 commonName VAR_064770 VAR_064771 commonName VAR_064771 VAR_064773 commonName VAR_064773 VAR_064773 disease phenotype-associated VAR_064773 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_064774 commonName VAR_064774 VAR_064774 disease phenotype-associated VAR_064774 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_064775 commonName VAR_064775 VAR_064775 disease phenotype-associated VAR_064775 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_064776 commonName VAR_064776 VAR_064776 disease phenotype-associated VAR_064776 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_064777 commonName VAR_064777 VAR_064777 disease phenotype-associated VAR_064777 phenoCommon Dent disease type 2 (DD2) [MIM:300555] VAR_064778 commonName VAR_064778 VAR_064778 disease phenotype-associated VAR_064778 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_064779 commonName VAR_064779 VAR_064779 disease phenotype-associated VAR_064779 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_064780 commonName VAR_064780 VAR_064780 disease phenotype-associated VAR_064780 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_064781 commonName VAR_064781 VAR_064781 disease phenotype-associated VAR_064781 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_064782 commonName VAR_064782 VAR_064782 disease phenotype-associated VAR_064782 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_064783 commonName VAR_064783 VAR_064783 disease phenotype-associated VAR_064783 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_064784 commonName VAR_064784 VAR_064784 disease phenotype-associated VAR_064784 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_064785 commonName VAR_064785 VAR_064785 disease phenotype-associated VAR_064785 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_064786 commonName VAR_064786 VAR_064786 disease phenotype-associated VAR_064786 phenoCommon Dent disease type 2 (DD2) [MIM:300555] VAR_064787 commonName VAR_064787 VAR_064787 disease phenotype-associated VAR_064787 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_064788 commonName VAR_064788 VAR_064788 disease phenotype-associated VAR_064788 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_064789 commonName VAR_064789 VAR_064789 disease phenotype-associated VAR_064789 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_064790 commonName VAR_064790 VAR_064790 disease phenotype-associated VAR_064790 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_064792 commonName VAR_064792 VAR_064792 disease phenotype-associated VAR_064792 phenoCommon Dent disease type 2 (DD2) [MIM:300555] VAR_064793 commonName VAR_064793 VAR_064793 disease phenotype-associated VAR_064793 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_064794 commonName VAR_064794 VAR_064794 disease phenotype-associated VAR_064794 phenoCommon Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000] VAR_064795 commonName VAR_064795 VAR_064795 disease phenotype-associated VAR_064795 phenoCommon Hyperglycinuria (HG) [MIM:138500] VAR_064795 phenoCommon Iminoglycinuria (IG) [MIM:242600] VAR_064796 commonName VAR_064796 VAR_064796 disease not phenotype-associated VAR_064797 commonName VAR_064797 VAR_064797 disease not phenotype-associated VAR_064798 commonName VAR_064798 VAR_064798 disease phenotype-associated VAR_064798 phenoCommon Hereditary sensory and autonomic neuropathy type 1C (HSAN1C) [MIM:613640] VAR_064799 commonName VAR_064799 VAR_064799 disease phenotype-associated VAR_064799 phenoCommon Hereditary sensory and autonomic neuropathy type 1C (HSAN1C) [MIM:613640] VAR_064800 commonName VAR_064800 VAR_064800 disease phenotype-associated VAR_064800 phenoCommon Hereditary sensory and autonomic neuropathy type 1C (HSAN1C) [MIM:613640] VAR_064801 commonName VAR_064801 VAR_064801 disease phenotype-associated VAR_064801 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] VAR_064802 commonName VAR_064802 VAR_064802 disease phenotype-associated VAR_064802 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] VAR_064803 commonName VAR_064803 VAR_064803 disease phenotype-associated VAR_064803 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] VAR_064804 commonName VAR_064804 VAR_064804 disease phenotype-associated VAR_064804 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] VAR_064805 commonName VAR_064805 VAR_064805 disease phenotype-associated VAR_064805 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] VAR_064806 commonName VAR_064806 VAR_064806 disease phenotype-associated VAR_064806 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] VAR_064807 commonName VAR_064807 VAR_064807 disease phenotype-associated VAR_064807 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] VAR_064808 commonName VAR_064808 VAR_064808 disease phenotype-associated VAR_064808 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] VAR_064809 commonName VAR_064809 VAR_064809 disease phenotype-associated VAR_064809 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] VAR_064810 commonName VAR_064810 VAR_064810 disease phenotype-associated VAR_064810 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] VAR_064811 commonName VAR_064811 VAR_064811 disease phenotype-associated VAR_064811 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] VAR_064813 commonName VAR_064813 VAR_064813 disease phenotype-associated VAR_064813 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] VAR_064814 commonName VAR_064814 VAR_064814 disease phenotype-associated VAR_064814 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] VAR_064816 commonName VAR_064816 VAR_064816 disease phenotype-associated VAR_064816 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] VAR_064817 commonName VAR_064817 VAR_064817 disease phenotype-associated VAR_064817 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] VAR_064818 commonName VAR_064818 VAR_064818 disease phenotype-associated VAR_064818 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] VAR_064819 commonName VAR_064819 VAR_064819 disease phenotype-associated VAR_064819 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] VAR_064820 commonName VAR_064820 VAR_064820 disease phenotype-associated VAR_064820 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] VAR_064821 commonName VAR_064821 VAR_064821 disease phenotype-associated VAR_064821 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] VAR_064822 commonName VAR_064822 VAR_064822 disease phenotype-associated VAR_064822 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] VAR_064823 commonName VAR_064823 VAR_064823 disease phenotype-associated VAR_064823 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] VAR_064824 commonName VAR_064824 VAR_064824 disease phenotype-associated VAR_064824 phenoCommon Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550] VAR_064827 commonName VAR_064827 VAR_064827 disease phenotype-associated VAR_064827 phenoCommon Neurofibromatosis type 1-like syndrome (NFLS) [MIM:611431] VAR_064828 commonName VAR_064828 VAR_064828 disease phenotype-associated VAR_064828 phenoCommon Neurofibromatosis type 1-like syndrome (NFLS) [MIM:611431] VAR_064829 commonName VAR_064829 VAR_064829 disease phenotype-associated VAR_064829 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219] VAR_064830 commonName VAR_064830 VAR_064830 disease phenotype-associated VAR_064830 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900] VAR_064831 commonName VAR_064831 VAR_064831 disease phenotype-associated VAR_064831 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900] VAR_064833 commonName VAR_064833 VAR_064833 disease phenotype-associated VAR_064833 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900] VAR_064834 commonName VAR_064834 VAR_064834 disease phenotype-associated VAR_064834 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900] VAR_064835 commonName VAR_064835 VAR_064835 disease phenotype-associated VAR_064835 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900] VAR_064837 commonName VAR_064837 VAR_064837 disease phenotype-associated VAR_064837 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900] VAR_064838 commonName VAR_064838 VAR_064838 disease phenotype-associated VAR_064838 phenoCommon Ectodermal dysplasia anhidrotic (EDA) [MIM:224900] VAR_064839 commonName VAR_064839 VAR_064840 commonName VAR_064840 VAR_064840 disease phenotype-associated VAR_064840 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] VAR_064842 commonName VAR_064842 VAR_064842 disease phenotype-associated VAR_064842 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] VAR_064843 commonName VAR_064843 VAR_064843 disease phenotype-associated VAR_064843 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] VAR_064844 commonName VAR_064844 VAR_064844 disease phenotype-associated VAR_064844 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] VAR_064845 commonName VAR_064845 VAR_064845 disease phenotype-associated VAR_064845 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] VAR_064846 commonName VAR_064846 VAR_064846 disease phenotype-associated VAR_064846 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] VAR_064847 commonName VAR_064847 VAR_064847 disease phenotype-associated VAR_064847 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] VAR_064848 commonName VAR_064848 VAR_064848 disease phenotype-associated VAR_064848 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] VAR_064849 commonName VAR_064849 VAR_064849 disease phenotype-associated VAR_064849 phenoCommon Gastric cancer (GASC) [MIM:613659] VAR_064850 commonName VAR_064850 VAR_064850 disease phenotype-associated VAR_064850 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] VAR_064851 commonName VAR_064851 VAR_064851 disease phenotype-associated VAR_064851 phenoCommon Noonan syndrome type 3 (NS3) [MIM:609942] VAR_064852 commonName VAR_064852 VAR_064852 disease phenotype-associated VAR_064852 phenoCommon Noonan syndrome type 3 (NS3) [MIM:609942] VAR_064853 commonName VAR_064853 VAR_064853 disease phenotype-associated VAR_064853 phenoCommon Noonan syndrome type 3 (NS3) [MIM:609942] VAR_064854 commonName VAR_064854 VAR_064854 disease phenotype-associated VAR_064854 phenoCommon Noonan syndrome type 3 (NS3) [MIM:609942] VAR_064855 commonName VAR_064855 VAR_064856 commonName VAR_064856 VAR_064858 commonName VAR_064858 VAR_064858 disease phenotype-associated VAR_064858 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_064860 commonName VAR_064860 VAR_064860 disease phenotype-associated VAR_064860 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_064861 commonName VAR_064861 VAR_064861 disease phenotype-associated VAR_064861 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_064862 commonName VAR_064862 VAR_064862 disease phenotype-associated VAR_064862 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_064863 commonName VAR_064863 VAR_064863 disease phenotype-associated VAR_064863 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_064864 commonName VAR_064864 VAR_064864 disease phenotype-associated VAR_064864 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_064865 commonName VAR_064865 VAR_064865 disease phenotype-associated VAR_064865 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_064866 commonName VAR_064866 VAR_064866 disease phenotype-associated VAR_064866 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_064867 commonName VAR_064867 VAR_064867 disease phenotype-associated VAR_064867 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_064868 commonName VAR_064868 VAR_064868 disease phenotype-associated VAR_064868 phenoCommon Tooth agenesis selective X-linked type 1 (STHAGX1) [MIM:313500] VAR_064869 commonName VAR_064869 VAR_064869 disease phenotype-associated VAR_064869 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_064870 commonName VAR_064870 VAR_064870 disease phenotype-associated VAR_064870 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_064871 commonName VAR_064871 VAR_064871 disease phenotype-associated VAR_064871 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_064872 commonName VAR_064872 VAR_064872 disease not phenotype-associated VAR_064873 commonName VAR_064873 VAR_064873 disease not phenotype-associated VAR_064874 commonName VAR_064874 VAR_064874 disease not phenotype-associated VAR_064875 commonName VAR_064875 VAR_064875 disease not phenotype-associated VAR_064877 commonName VAR_064877 VAR_064877 disease not phenotype-associated VAR_064878 commonName VAR_064878 VAR_064878 disease not phenotype-associated VAR_064879 commonName VAR_064879 VAR_064879 disease not phenotype-associated VAR_064880 commonName VAR_064880 VAR_064880 disease not phenotype-associated VAR_064881 commonName VAR_064881 VAR_064881 disease not phenotype-associated VAR_064882 commonName VAR_064882 VAR_064882 disease not phenotype-associated VAR_064883 commonName VAR_064883 VAR_064883 disease not phenotype-associated VAR_064884 commonName VAR_064884 VAR_064884 disease not phenotype-associated VAR_064885 commonName VAR_064885 VAR_064885 disease not phenotype-associated VAR_064886 commonName VAR_064886 VAR_064886 disease not phenotype-associated VAR_064888 commonName VAR_064888 VAR_064888 disease phenotype-associated VAR_064888 phenoCommon Spinocerebellar ataxia autosomal recessive type 10 (SCAR10) [MIM:613728] VAR_064889 commonName VAR_064889 VAR_064889 disease phenotype-associated VAR_064889 phenoCommon Nemaline myopathy type 6 (NEM6) [MIM:609273] VAR_064890 commonName VAR_064890 VAR_064890 disease phenotype-associated VAR_064890 phenoCommon Nemaline myopathy type 6 (NEM6) [MIM:609273] VAR_064891 commonName VAR_064891 VAR_064891 disease phenotype-associated VAR_064891 phenoCommon Nemaline myopathy type 6 (NEM6) [MIM:609273] VAR_064892 commonName VAR_064892 VAR_064892 disease phenotype-associated VAR_064892 phenoCommon Treacher Collins syndrome type 2 (TCS2) [MIM:613717] VAR_064893 commonName VAR_064893 VAR_064893 disease phenotype-associated VAR_064893 phenoCommon Treacher Collins syndrome type 2 (TCS2) [MIM:613717] VAR_064894 commonName VAR_064894 VAR_064894 disease phenotype-associated VAR_064894 phenoCommon Treacher Collins syndrome type 2 (TCS2) [MIM:613717] VAR_064895 commonName VAR_064895 VAR_064895 disease phenotype-associated VAR_064895 phenoCommon Treacher Collins syndrome type 2 (TCS2) [MIM:613717] VAR_064896 commonName VAR_064896 VAR_064896 disease phenotype-associated VAR_064896 phenoCommon Treacher Collins syndrome type 2 (TCS2) [MIM:613717] VAR_064897 commonName VAR_064897 VAR_064897 disease phenotype-associated VAR_064897 phenoCommon Treacher Collins syndrome type 2 (TCS2) [MIM:613717] VAR_064898 commonName VAR_064898 VAR_064898 disease phenotype-associated VAR_064898 phenoCommon Treacher Collins syndrome type 2 (TCS2) [MIM:613717] VAR_064899 commonName VAR_064899 VAR_064899 disease phenotype-associated VAR_064899 phenoCommon Treacher Collins syndrome type 3 (TCS3) [MIM:248390] VAR_064900 commonName VAR_064900 VAR_064900 disease phenotype-associated VAR_064900 phenoCommon Treacher Collins syndrome type 3 (TCS3) [MIM:248390] VAR_064901 commonName VAR_064901 VAR_064901 disease phenotype-associated VAR_064901 phenoCommon Congenital dyserythropoietic anemia type 4 (CDA4) [MIM:613673] VAR_064902 commonName VAR_064902 VAR_064902 disease phenotype-associated VAR_064902 phenoCommon Cardiomyopathy dilated type 1U (CMD1U) [MIM:613694] VAR_064903 commonName VAR_064903 VAR_064903 disease phenotype-associated VAR_064903 phenoCommon Cardiomyopathy dilated type 1V (CMD1V) [MIM:613697] VAR_064904 commonName VAR_064904 VAR_064904 disease phenotype-associated VAR_064904 phenoCommon Deafness autosomal recessive type 74 (DFNB74) [MIM:613718] VAR_064907 commonName VAR_064907 VAR_064907 disease phenotype-associated VAR_064907 phenoCommon Spastic ataxia autosomal recessive type 4 (SPAX4) [MIM:613672] VAR_064908 commonName VAR_064908 VAR_064908 disease phenotype-associated VAR_064908 phenoCommon Congenital disorder of glycosylation type 1P (CDG1P) [MIM:613661] VAR_064909 commonName VAR_064909 VAR_064910 commonName VAR_064910 VAR_064910 disease phenotype-associated VAR_064910 phenoCommon Band-like calcification with simplified gyration and polymicrogyria (BLCPMG) [MIM:251290] VAR_064911 commonName VAR_064911 VAR_064911 disease phenotype-associated VAR_064911 phenoCommon Charcot-Marie-Tooth disease recessive intermediate type B (CMTRIB) [MIM:613641] VAR_064912 commonName VAR_064912 VAR_064912 disease phenotype-associated VAR_064912 phenoCommon Charcot-Marie-Tooth disease recessive intermediate type B (CMTRIB) [MIM:613641] VAR_064913 commonName VAR_064913 VAR_064913 disease phenotype-associated VAR_064913 phenoCommon Spinocerebellar ataxia type 23 (SCA23) [MIM:610245] VAR_064914 commonName VAR_064914 VAR_064914 disease phenotype-associated VAR_064914 phenoCommon Spinocerebellar ataxia type 23 (SCA23) [MIM:610245] VAR_064915 commonName VAR_064915 VAR_064915 disease phenotype-associated VAR_064915 phenoCommon Spinocerebellar ataxia type 23 (SCA23) [MIM:610245] VAR_064916 commonName VAR_064916 VAR_064916 disease phenotype-associated VAR_064916 phenoCommon Spinocerebellar ataxia type 23 (SCA23) [MIM:610245] VAR_064917 commonName VAR_064917 VAR_064917 disease not phenotype-associated VAR_064918 commonName VAR_064918 VAR_064918 disease not phenotype-associated VAR_064919 commonName VAR_064919 VAR_064919 disease not phenotype-associated VAR_064920 commonName VAR_064920 VAR_064920 disease not phenotype-associated VAR_064921 commonName VAR_064921 VAR_064921 disease phenotype-associated VAR_064921 phenoCommon Spondylocostal dysostosis type 4 (SCDO4) [MIM:613686] VAR_064922 commonName VAR_064922 VAR_064922 disease phenotype-associated VAR_064922 phenoCommon Spondylocostal dysostosis type 4 (SCDO4) [MIM:613686] VAR_064923 commonName VAR_064923 VAR_064923 disease phenotype-associated VAR_064923 phenoCommon Spondylocostal dysostosis type 4 (SCDO4) [MIM:613686] VAR_064925 commonName VAR_064925 VAR_064925 disease phenotype-associated VAR_064925 phenoCommon Von Willebrand disease type 1 (VWD1) [MIM:193400] VAR_064926 commonName VAR_064926 VAR_064926 disease phenotype-associated VAR_064926 phenoCommon Retinitis pigmentosa type 58 (RP58) [MIM:613617] VAR_064927 commonName VAR_064927 VAR_064929 commonName VAR_064929 VAR_064930 commonName VAR_064930 VAR_064931 commonName VAR_064931 VAR_064932 commonName VAR_064932 VAR_064933 commonName VAR_064933 VAR_064934 commonName VAR_064934 VAR_064935 commonName VAR_064935 VAR_064936 commonName VAR_064936 VAR_064936 disease phenotype-associated VAR_064936 phenoCommon Hyperparathyroidism-jaw tumor syndrome (HPT-JT) [MIM:145001] VAR_064937 commonName VAR_064937 VAR_064939 commonName VAR_064939 VAR_064939 disease phenotype-associated VAR_064939 phenoCommon Familial adenomatous polyposis type 2 (FAP2) [MIM:608456] VAR_064940 commonName VAR_064940 VAR_064940 disease phenotype-associated VAR_064940 phenoCommon Familial adenomatous polyposis type 2 (FAP2) [MIM:608456] VAR_064942 commonName VAR_064942 VAR_064942 disease phenotype-associated VAR_064942 phenoCommon Branchiootorenal syndrome type 1 (BOR1) [MIM:113650] VAR_064943 commonName VAR_064943 VAR_064943 disease phenotype-associated VAR_064943 phenoCommon Branchiootorenal syndrome type 1 (BOR1) [MIM:113650] VAR_064944 commonName VAR_064944 VAR_064944 disease phenotype-associated VAR_064944 phenoCommon Branchiootorenal syndrome type 1 (BOR1) [MIM:113650] VAR_064945 commonName VAR_064945 VAR_064945 disease phenotype-associated VAR_064945 phenoCommon Branchiootorenal syndrome type 1 (BOR1) [MIM:113650] VAR_064946 commonName VAR_064946 VAR_064946 disease phenotype-associated VAR_064946 phenoCommon Branchiootorenal syndrome type 1 (BOR1) [MIM:113650] VAR_064947 commonName VAR_064947 VAR_064947 disease phenotype-associated VAR_064947 phenoCommon Branchiootorenal syndrome type 1 (BOR1) [MIM:113650] VAR_064948 commonName VAR_064948 VAR_064948 disease phenotype-associated VAR_064948 phenoCommon Branchiootic syndrome type 3 (BOS3) [MIM:608389] VAR_064949 commonName VAR_064949 VAR_064949 disease phenotype-associated VAR_064949 phenoCommon Branchiootic syndrome type 3 (BOS3) [MIM:608389] VAR_064950 commonName VAR_064950 VAR_064950 disease phenotype-associated VAR_064950 phenoCommon Branchiootic syndrome type 3 (BOS3) [MIM:608389] VAR_064951 commonName VAR_064951 VAR_064951 disease phenotype-associated VAR_064951 phenoCommon Branchiootic syndrome type 3 (BOS3) [MIM:608389] VAR_064952 commonName VAR_064952 VAR_064952 disease phenotype-associated VAR_064952 phenoCommon Branchiootic syndrome type 3 (BOS3) [MIM:608389] VAR_064953 commonName VAR_064953 VAR_064953 disease phenotype-associated VAR_064953 phenoCommon Branchiootic syndrome type 3 (BOS3) [MIM:608389] VAR_064954 commonName VAR_064954 VAR_064956 commonName VAR_064956 VAR_064956 disease phenotype-associated VAR_064956 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] VAR_064957 commonName VAR_064957 VAR_064957 disease phenotype-associated VAR_064957 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] VAR_064958 commonName VAR_064958 VAR_064958 disease phenotype-associated VAR_064958 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] VAR_064959 commonName VAR_064959 VAR_064959 disease phenotype-associated VAR_064959 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] VAR_064960 commonName VAR_064960 VAR_064960 disease phenotype-associated VAR_064960 phenoCommon Crigler-Najjar syndrome type 1 (CN1) [MIM:218800] VAR_064961 commonName VAR_064961 VAR_064961 disease phenotype-associated VAR_064961 phenoCommon Crigler-Najjar syndrome type 2 (CN2) [MIM:606785] VAR_064962 commonName VAR_064962 VAR_064962 disease phenotype-associated VAR_064962 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_064964 commonName VAR_064964 VAR_064964 disease phenotype-associated VAR_064964 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_064965 commonName VAR_064965 VAR_064965 disease phenotype-associated VAR_064965 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_064966 commonName VAR_064966 VAR_064966 disease phenotype-associated VAR_064966 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_064967 commonName VAR_064967 VAR_064967 disease phenotype-associated VAR_064967 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_064968 commonName VAR_064968 VAR_064968 disease phenotype-associated VAR_064968 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_064970 commonName VAR_064970 VAR_064970 disease phenotype-associated VAR_064970 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_064971 commonName VAR_064971 VAR_064971 disease phenotype-associated VAR_064971 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_064972 commonName VAR_064972 VAR_064972 disease phenotype-associated VAR_064972 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_064973 commonName VAR_064973 VAR_064973 disease phenotype-associated VAR_064973 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_064974 commonName VAR_064974 VAR_064974 disease phenotype-associated VAR_064974 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_064975 commonName VAR_064975 VAR_064975 disease phenotype-associated VAR_064975 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_064976 commonName VAR_064976 VAR_064976 disease phenotype-associated VAR_064976 phenoCommon Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350] VAR_064977 commonName VAR_064977 VAR_064977 disease phenotype-associated VAR_064977 phenoCommon Retinal degeneration autosomal recessive clumped pigment type (RDCP) [MIM:162080] VAR_064978 commonName VAR_064978 VAR_064978 disease phenotype-associated VAR_064978 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] VAR_064979 commonName VAR_064979 VAR_064979 disease phenotype-associated VAR_064979 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] VAR_064980 commonName VAR_064980 VAR_064980 disease phenotype-associated VAR_064980 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] VAR_064981 commonName VAR_064981 VAR_064981 disease phenotype-associated VAR_064981 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] VAR_064982 commonName VAR_064982 VAR_064982 disease phenotype-associated VAR_064982 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] VAR_064983 commonName VAR_064983 VAR_064983 disease phenotype-associated VAR_064983 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] VAR_064984 commonName VAR_064984 VAR_064984 disease phenotype-associated VAR_064984 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] VAR_064985 commonName VAR_064985 VAR_064985 disease phenotype-associated VAR_064985 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] VAR_064986 commonName VAR_064986 VAR_064987 commonName VAR_064987 VAR_064987 disease phenotype-associated VAR_064987 phenoCommon Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345] VAR_064987 phenoCommon Periodic paralysis normokalemic (NKPP) [MIM:170500] VAR_064988 commonName VAR_064988 VAR_064988 disease not phenotype-associated VAR_064989 commonName VAR_064989 VAR_064989 disease not phenotype-associated VAR_064990 commonName VAR_064990 VAR_064991 commonName VAR_064991 VAR_064992 commonName VAR_064992 VAR_064992 disease phenotype-associated VAR_064992 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] VAR_064993 commonName VAR_064993 VAR_064993 disease phenotype-associated VAR_064993 phenoCommon Deafness autosomal recessive type 4 (DFNB4) [MIM:600791] VAR_064994 commonName VAR_064994 VAR_064994 disease phenotype-associated VAR_064994 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] VAR_064995 commonName VAR_064995 VAR_064995 disease phenotype-associated VAR_064995 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] VAR_064996 commonName VAR_064996 VAR_064996 disease phenotype-associated VAR_064996 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] VAR_064997 commonName VAR_064997 VAR_064997 disease phenotype-associated VAR_064997 phenoCommon Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750] VAR_064998 commonName VAR_064998 VAR_064999 commonName VAR_064999 VAR_064999 disease phenotype-associated VAR_064999 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] VAR_065000 commonName VAR_065000 VAR_065000 disease phenotype-associated VAR_065000 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] VAR_065001 commonName VAR_065001 VAR_065001 disease phenotype-associated VAR_065001 phenoCommon Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600] VAR_065002 commonName VAR_065002 VAR_065002 disease phenotype-associated VAR_065002 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710] VAR_065003 commonName VAR_065003 VAR_065003 disease phenotype-associated VAR_065003 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710] VAR_065004 commonName VAR_065004 VAR_065004 disease phenotype-associated VAR_065004 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710] VAR_065006 commonName VAR_065006 VAR_065006 disease not phenotype-associated VAR_065007 commonName VAR_065007 VAR_065007 disease phenotype-associated VAR_065007 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710] VAR_065009 commonName VAR_065009 VAR_065009 disease phenotype-associated VAR_065009 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710] VAR_065010 commonName VAR_065010 VAR_065010 disease phenotype-associated VAR_065010 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710] VAR_065011 commonName VAR_065011 VAR_065011 disease phenotype-associated VAR_065011 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710] VAR_065012 commonName VAR_065012 VAR_065012 disease phenotype-associated VAR_065012 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710] VAR_065013 commonName VAR_065013 VAR_065013 disease phenotype-associated VAR_065013 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710] VAR_065014 commonName VAR_065014 VAR_065014 disease phenotype-associated VAR_065014 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710] VAR_065016 commonName VAR_065016 VAR_065016 disease phenotype-associated VAR_065016 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710] VAR_065017 commonName VAR_065017 VAR_065017 disease not phenotype-associated VAR_065018 commonName VAR_065018 VAR_065021 commonName VAR_065021 VAR_065021 disease phenotype-associated VAR_065021 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280] VAR_065022 commonName VAR_065022 VAR_065022 disease phenotype-associated VAR_065022 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280] VAR_065023 commonName VAR_065023 VAR_065023 disease phenotype-associated VAR_065023 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280] VAR_065024 commonName VAR_065024 VAR_065024 disease phenotype-associated VAR_065024 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3) [MIM:253280] VAR_065027 commonName VAR_065027 VAR_065027 disease phenotype-associated VAR_065027 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B1 (MDDGB1) [MIM:613155] VAR_065028 commonName VAR_065028 VAR_065028 disease phenotype-associated VAR_065028 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A1 (MDDGA1) [MIM:236670] VAR_065029 commonName VAR_065029 VAR_065029 disease phenotype-associated VAR_065029 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A1 (MDDGA1) [MIM:236670] VAR_065031 commonName VAR_065031 VAR_065031 disease phenotype-associated VAR_065031 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A1 (MDDGA1) [MIM:236670] VAR_065032 commonName VAR_065032 VAR_065032 disease not phenotype-associated VAR_065033 commonName VAR_065033 VAR_065033 disease not phenotype-associated VAR_065034 commonName VAR_065034 VAR_065034 disease phenotype-associated VAR_065034 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B1 (MDDGB1) [MIM:613155] VAR_065035 commonName VAR_065035 VAR_065035 disease phenotype-associated VAR_065035 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B1 (MDDGB1) [MIM:613155] VAR_065036 commonName VAR_065036 VAR_065036 disease phenotype-associated VAR_065036 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B1 (MDDGB1) [MIM:613155] VAR_065037 commonName VAR_065037 VAR_065037 disease phenotype-associated VAR_065037 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C2 (MDDGC2) [MIM:613158] VAR_065038 commonName VAR_065038 VAR_065038 disease phenotype-associated VAR_065038 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A2 (MDDGA2) [MIM:613150] VAR_065039 commonName VAR_065039 VAR_065039 disease phenotype-associated VAR_065039 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B2 (MDDGB2) [MIM:613156] VAR_065040 commonName VAR_065040 VAR_065040 disease phenotype-associated VAR_065040 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A2 (MDDGA2) [MIM:613150] VAR_065041 commonName VAR_065041 VAR_065041 disease phenotype-associated VAR_065041 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A2 (MDDGA2) [MIM:613150] VAR_065042 commonName VAR_065042 VAR_065042 disease phenotype-associated VAR_065042 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A2 (MDDGA2) [MIM:613150] VAR_065050 commonName VAR_065050 VAR_065050 disease phenotype-associated VAR_065050 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C4 (MDDGC4) [MIM:611588] VAR_065051 commonName VAR_065051 VAR_065051 disease phenotype-associated VAR_065051 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A4 (MDDGA4) [MIM:253800] VAR_065052 commonName VAR_065052 VAR_065052 disease phenotype-associated VAR_065052 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C4 (MDDGC4) [MIM:611588] VAR_065053 commonName VAR_065053 VAR_065053 disease phenotype-associated VAR_065053 phenoCommon Muscular dystrophy-dystroglycanopathy congenital without mental retardation type B4 (MDDGB4) [MIM:613152] VAR_065055 commonName VAR_065055 VAR_065055 disease phenotype-associated VAR_065055 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] VAR_065056 commonName VAR_065056 VAR_065056 disease phenotype-associated VAR_065056 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] VAR_065057 commonName VAR_065057 VAR_065057 disease phenotype-associated VAR_065057 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] VAR_065058 commonName VAR_065058 VAR_065058 disease phenotype-associated VAR_065058 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] VAR_065059 commonName VAR_065059 VAR_065059 disease phenotype-associated VAR_065059 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] VAR_065060 commonName VAR_065060 VAR_065060 disease phenotype-associated VAR_065060 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] VAR_065061 commonName VAR_065061 VAR_065061 disease phenotype-associated VAR_065061 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] VAR_065062 commonName VAR_065062 VAR_065062 disease phenotype-associated VAR_065062 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155] VAR_065063 commonName VAR_065063 VAR_065063 disease phenotype-associated VAR_065063 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612] VAR_065064 commonName VAR_065064 VAR_065064 disease phenotype-associated VAR_065064 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A6 (MDDGA6) [MIM:613154] VAR_065065 commonName VAR_065065 VAR_065065 disease phenotype-associated VAR_065065 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A6 (MDDGA6) [MIM:613154] VAR_065066 commonName VAR_065066 VAR_065066 disease phenotype-associated VAR_065066 phenoCommon Microcephaly postnatal progressive with seizures and brain atrophy (MCPHSBA) [MIM:613668] VAR_065067 commonName VAR_065067 VAR_065067 disease not phenotype-associated VAR_065068 commonName VAR_065068 VAR_065068 disease not phenotype-associated VAR_065069 commonName VAR_065069 VAR_065069 disease not phenotype-associated VAR_065070 commonName VAR_065070 VAR_065070 disease not phenotype-associated VAR_065071 commonName VAR_065071 VAR_065071 disease not phenotype-associated VAR_065072 commonName VAR_065072 VAR_065072 disease not phenotype-associated VAR_065073 commonName VAR_065073 VAR_065073 disease not phenotype-associated VAR_065076 commonName VAR_065076 VAR_065076 disease phenotype-associated VAR_065076 phenoCommon Microphthalmia isolated type 6 (MCOP6) [MIM:613517] VAR_065077 commonName VAR_065077 VAR_065077 disease phenotype-associated VAR_065077 phenoCommon Microphthalmia isolated type 6 (MCOP6) [MIM:613517] VAR_065085 commonName VAR_065085 VAR_065085 disease phenotype-associated VAR_065085 phenoCommon Mental retardation autosomal dominant type 13 (MRD13) [MIM:614563] VAR_065086 commonName VAR_065086 VAR_065087 commonName VAR_065087 VAR_065088 commonName VAR_065088 VAR_065089 commonName VAR_065089 VAR_065090 commonName VAR_065090 VAR_065091 commonName VAR_065091 VAR_065092 commonName VAR_065092 VAR_065092 disease phenotype-associated VAR_065092 phenoCommon Mitochondrial DNA depletion syndrome type 4A (MTDPS4A) [MIM:203700] VAR_065093 commonName VAR_065093 VAR_065093 disease not phenotype-associated VAR_065094 commonName VAR_065094 VAR_065094 disease not phenotype-associated VAR_065095 commonName VAR_065095 VAR_065095 disease not phenotype-associated VAR_065096 commonName VAR_065096 VAR_065096 disease not phenotype-associated VAR_065097 commonName VAR_065097 VAR_065097 disease not phenotype-associated VAR_065098 commonName VAR_065098 VAR_065098 disease not phenotype-associated VAR_065099 commonName VAR_065099 VAR_065099 disease not phenotype-associated VAR_065100 commonName VAR_065100 VAR_065100 disease not phenotype-associated VAR_065102 commonName VAR_065102 VAR_065102 disease phenotype-associated VAR_065102 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] VAR_065103 commonName VAR_065103 VAR_065103 disease phenotype-associated VAR_065103 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] VAR_065104 commonName VAR_065104 VAR_065104 disease phenotype-associated VAR_065104 phenoCommon Mitochondrial DNA depletion syndrome type 7 (MTDPS7) [MIM:271245] VAR_065105 commonName VAR_065105 VAR_065105 disease phenotype-associated VAR_065105 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] VAR_065106 commonName VAR_065106 VAR_065106 disease phenotype-associated VAR_065106 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] VAR_065107 commonName VAR_065107 VAR_065107 disease phenotype-associated VAR_065107 phenoCommon Mitochondrial DNA depletion syndrome type 7 (MTDPS7) [MIM:271245] VAR_065108 commonName VAR_065108 VAR_065108 disease phenotype-associated VAR_065108 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] VAR_065109 commonName VAR_065109 VAR_065109 disease phenotype-associated VAR_065109 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] VAR_065110 commonName VAR_065110 VAR_065110 disease phenotype-associated VAR_065110 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] VAR_065111 commonName VAR_065111 VAR_065111 disease phenotype-associated VAR_065111 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] VAR_065112 commonName VAR_065112 VAR_065112 disease phenotype-associated VAR_065112 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] VAR_065113 commonName VAR_065113 VAR_065113 disease phenotype-associated VAR_065113 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] VAR_065114 commonName VAR_065114 VAR_065114 disease phenotype-associated VAR_065114 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] VAR_065115 commonName VAR_065115 VAR_065115 disease phenotype-associated VAR_065115 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] VAR_065116 commonName VAR_065116 VAR_065116 disease phenotype-associated VAR_065116 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] VAR_065117 commonName VAR_065117 VAR_065117 disease phenotype-associated VAR_065117 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] VAR_065118 commonName VAR_065118 VAR_065118 disease phenotype-associated VAR_065118 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286] VAR_065119 commonName VAR_065119 VAR_065119 disease phenotype-associated VAR_065119 phenoCommon Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640] VAR_065120 commonName VAR_065120 VAR_065120 disease phenotype-associated VAR_065120 phenoCommon Mitochondrial DNA depletion syndrome type 9 (MTDPS9) [MIM:245400] VAR_065121 commonName VAR_065121 VAR_065121 disease phenotype-associated VAR_065121 phenoCommon Mitochondrial DNA depletion syndrome type 9 (MTDPS9) [MIM:245400] VAR_065122 commonName VAR_065122 VAR_065122 disease phenotype-associated VAR_065122 phenoCommon Mitochondrial DNA depletion syndrome type 8B (MTDPS8B) [MIM:612075] VAR_065123 commonName VAR_065123 VAR_065123 disease phenotype-associated VAR_065123 phenoCommon Mitochondrial DNA depletion syndrome type 8B (MTDPS8B) [MIM:612075] VAR_065124 commonName VAR_065124 VAR_065124 disease phenotype-associated VAR_065124 phenoCommon Infections recurrent associated with encephalopathy hepatic dysfunction and cardiovascular malformations (IEHDCM) [MIM:613759] VAR_065125 commonName VAR_065125 VAR_065125 disease phenotype-associated VAR_065125 phenoCommon Striatal necrosis bilateral and progressive polyneuropathy (SNBPP) [MIM:613710] VAR_065128 commonName VAR_065128 VAR_065128 disease phenotype-associated VAR_065128 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] VAR_065129 commonName VAR_065129 VAR_065129 disease phenotype-associated VAR_065129 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] VAR_065130 commonName VAR_065130 VAR_065130 disease phenotype-associated VAR_065130 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] VAR_065131 commonName VAR_065131 VAR_065131 disease phenotype-associated VAR_065131 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] VAR_065132 commonName VAR_065132 VAR_065132 disease phenotype-associated VAR_065132 phenoCommon Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859] VAR_065133 commonName VAR_065133 VAR_065134 commonName VAR_065134 VAR_065134 disease phenotype-associated VAR_065134 phenoCommon Gastric cancer (GASC) [MIM:613659] VAR_065135 commonName VAR_065135 VAR_065135 disease phenotype-associated VAR_065135 phenoCommon Gastric cancer (GASC) [MIM:613659] VAR_065136 commonName VAR_065136 VAR_065137 commonName VAR_065137 VAR_065138 commonName VAR_065138 VAR_065139 commonName VAR_065139 VAR_065140 commonName VAR_065140 VAR_065141 commonName VAR_065141 VAR_065142 commonName VAR_065142 VAR_065143 commonName VAR_065143 VAR_065144 commonName VAR_065144 VAR_065144 disease phenotype-associated VAR_065144 phenoCommon Noonan syndrome type 3 (NS3) [MIM:609942] VAR_065145 commonName VAR_065145 VAR_065145 disease phenotype-associated VAR_065145 phenoCommon Pylocytic astrocytoma (PA) VAR_065146 commonName VAR_065146 VAR_065146 disease phenotype-associated VAR_065146 phenoCommon Noonan syndrome type 3 (NS3) [MIM:609942] VAR_065147 commonName VAR_065147 VAR_065147 disease phenotype-associated VAR_065147 phenoCommon Microphthalmia isolated type 7 (MCOP7) [MIM:613704] VAR_065148 commonName VAR_065148 VAR_065148 disease phenotype-associated VAR_065148 phenoCommon Klippel-Feil syndrome type 3 (KFS3) [MIM:613702] VAR_065148 phenoCommon Microphthalmia isolated with coloboma type 6 (MCOPCB6) [MIM:613703] VAR_065149 commonName VAR_065149 VAR_065149 disease phenotype-associated VAR_065149 phenoCommon Microphthalmia isolated with coloboma type 6 (MCOPCB6) [MIM:613703] VAR_065150 commonName VAR_065150 VAR_065150 disease phenotype-associated VAR_065150 phenoCommon Microphthalmia isolated type 7 (MCOP7) [MIM:613704] VAR_065151 commonName VAR_065151 VAR_065153 commonName VAR_065153 VAR_065153 disease phenotype-associated VAR_065153 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_065154 comment Parathyroid tumors VAR_065154 commonName VAR_065154 VAR_065155 commonName VAR_065155 VAR_065155 disease phenotype-associated VAR_065155 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_065156 commonName VAR_065156 VAR_065156 disease phenotype-associated VAR_065156 phenoCommon Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] VAR_065157 commonName VAR_065157 VAR_065157 disease phenotype-associated VAR_065157 phenoCommon Mitochondrial DNA depletion syndrome type 9 (MTDPS9) [MIM:245400] VAR_065158 commonName VAR_065158 VAR_065158 disease phenotype-associated VAR_065158 phenoCommon Posterior column ataxia with retinitis pigmentosa (PCARP) [MIM:609033] VAR_065159 commonName VAR_065159 VAR_065159 disease phenotype-associated VAR_065159 phenoCommon Posterior column ataxia with retinitis pigmentosa (PCARP) [MIM:609033] VAR_065160 commonName VAR_065160 VAR_065160 disease phenotype-associated VAR_065160 phenoCommon Posterior column ataxia with retinitis pigmentosa (PCARP) [MIM:609033] VAR_065161 commonName VAR_065161 VAR_065161 disease phenotype-associated VAR_065161 phenoCommon Posterior column ataxia with retinitis pigmentosa (PCARP) [MIM:609033] VAR_065162 commonName VAR_065162 VAR_065162 disease not phenotype-associated VAR_065163 commonName VAR_065163 VAR_065163 disease not phenotype-associated VAR_065164 commonName VAR_065164 VAR_065164 disease phenotype-associated VAR_065164 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_065165 commonName VAR_065165 VAR_065165 disease phenotype-associated VAR_065165 phenoCommon Glycogen storage disease type 1A (GSD1A) [MIM:232200] VAR_065166 commonName VAR_065166 VAR_065166 disease not phenotype-associated VAR_065169 commonName VAR_065169 VAR_065169 disease phenotype-associated VAR_065169 phenoCommon Vesicoureteral reflux type 3 (VUR3) [MIM:613674] VAR_065170 commonName VAR_065170 VAR_065170 disease phenotype-associated VAR_065170 phenoCommon Vesicoureteral reflux type 3 (VUR3) [MIM:613674] VAR_065171 commonName VAR_065171 VAR_065171 disease phenotype-associated VAR_065171 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] VAR_065172 commonName VAR_065172 VAR_065172 disease phenotype-associated VAR_065172 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] VAR_065173 commonName VAR_065173 VAR_065173 disease phenotype-associated VAR_065173 phenoCommon Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150] VAR_065174 commonName VAR_065174 VAR_065174 disease phenotype-associated VAR_065174 phenoCommon D-2-hydroxyglutaric aciduria type 2 (D2HGA2) [MIM:613657] VAR_065175 commonName VAR_065175 VAR_065175 disease phenotype-associated VAR_065175 phenoCommon D-2-hydroxyglutaric aciduria type 2 (D2HGA2) [MIM:613657] VAR_065176 commonName VAR_065176 VAR_065176 disease phenotype-associated VAR_065176 phenoCommon Seizures, benign familial infantile type 3 (BFIS3) [MIM:607745] VAR_065177 commonName VAR_065177 VAR_065177 disease phenotype-associated VAR_065177 phenoCommon Seizures, benign familial infantile type 3 (BFIS3) [MIM:607745] VAR_065178 commonName VAR_065178 VAR_065178 disease phenotype-associated VAR_065178 phenoCommon Epileptic encephalopathy early infantile type 11 (EIEE11) [MIM:613721] VAR_065179 commonName VAR_065179 VAR_065180 commonName VAR_065180 VAR_065180 disease phenotype-associated VAR_065180 phenoCommon Epileptic encephalopathy early infantile type 11 (EIEE11) [MIM:613721] VAR_065181 commonName VAR_065181 VAR_065181 disease phenotype-associated VAR_065181 phenoCommon Epileptic encephalopathy early infantile type 11 (EIEE11) [MIM:613721] VAR_065182 commonName VAR_065182 VAR_065182 disease phenotype-associated VAR_065182 phenoCommon Retinitis pigmentosa type 26 (RP26) [MIM:608380] VAR_065185 commonName VAR_065185 VAR_065185 disease phenotype-associated VAR_065185 phenoCommon Calcification of joints and arteries (CALJA) [MIM:211800] VAR_065186 commonName VAR_065186 VAR_065186 disease not phenotype-associated VAR_065187 commonName VAR_065187 VAR_065187 disease not phenotype-associated VAR_065188 commonName VAR_065188 VAR_065188 disease not phenotype-associated VAR_065189 commonName VAR_065189 VAR_065189 disease phenotype-associated VAR_065189 phenoCommon Focal dermal hypoplasia (FODH) [MIM:305600] VAR_065190 commonName VAR_065190 VAR_065190 disease phenotype-associated VAR_065190 phenoCommon Focal dermal hypoplasia (FODH) [MIM:305600] VAR_065191 commonName VAR_065191 VAR_065191 disease phenotype-associated VAR_065191 phenoCommon Focal dermal hypoplasia (FODH) [MIM:305600] VAR_065192 commonName VAR_065192 VAR_065192 disease phenotype-associated VAR_065192 phenoCommon Focal dermal hypoplasia (FODH) [MIM:305600] VAR_065193 commonName VAR_065193 VAR_065193 disease phenotype-associated VAR_065193 phenoCommon Focal dermal hypoplasia (FODH) [MIM:305600] VAR_065194 commonName VAR_065194 VAR_065194 disease phenotype-associated VAR_065194 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_065196 commonName VAR_065196 VAR_065196 disease phenotype-associated VAR_065196 phenoCommon Adrenal hyperplasia type 4 (AH4) [MIM:202010] VAR_065197 commonName VAR_065197 VAR_065197 disease phenotype-associated VAR_065197 phenoCommon Adrenal hyperplasia type 4 (AH4) [MIM:202010] VAR_065198 commonName VAR_065198 VAR_065199 commonName VAR_065199 VAR_065201 commonName VAR_065201 VAR_065202 commonName VAR_065202 VAR_065203 commonName VAR_065203 VAR_065205 commonName VAR_065205 VAR_065205 disease not phenotype-associated VAR_065206 commonName VAR_065206 VAR_065206 disease phenotype-associated VAR_065206 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] VAR_065207 commonName VAR_065207 VAR_065207 disease phenotype-associated VAR_065207 phenoCommon GLUT1 deficiency syndrome type 2 (GLUT1DS2) [MIM:612126] VAR_065208 commonName VAR_065208 VAR_065208 disease phenotype-associated VAR_065208 phenoCommon GLUT1 deficiency syndrome type 2 (GLUT1DS2) [MIM:612126] VAR_065209 commonName VAR_065209 VAR_065209 disease phenotype-associated VAR_065209 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] VAR_065210 commonName VAR_065210 VAR_065210 disease phenotype-associated VAR_065210 phenoCommon GLUT1 deficiency syndrome type 2 (GLUT1DS2) [MIM:612126] VAR_065211 commonName VAR_065211 VAR_065211 disease phenotype-associated VAR_065211 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] VAR_065212 commonName VAR_065212 VAR_065212 disease phenotype-associated VAR_065212 phenoCommon GLUT1 deficiency syndrome type 2 (GLUT1DS2) [MIM:612126] VAR_065213 commonName VAR_065213 VAR_065213 disease phenotype-associated VAR_065213 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] VAR_065214 commonName VAR_065214 VAR_065214 disease phenotype-associated VAR_065214 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] VAR_065215 commonName VAR_065215 VAR_065215 disease phenotype-associated VAR_065215 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] VAR_065215 phenoCommon GLUT1 deficiency syndrome type 2 (GLUT1DS2) [MIM:612126] VAR_065216 commonName VAR_065216 VAR_065216 disease phenotype-associated VAR_065216 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] VAR_065217 commonName VAR_065217 VAR_065218 commonName VAR_065218 VAR_065218 disease phenotype-associated VAR_065218 phenoCommon GLUT1 deficiency syndrome type 2 (GLUT1DS2) [MIM:612126] VAR_065219 commonName VAR_065219 VAR_065219 disease phenotype-associated VAR_065219 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] VAR_065219 phenoCommon GLUT1 deficiency syndrome type 2 (GLUT1DS2) [MIM:612126] VAR_065220 commonName VAR_065220 VAR_065220 disease phenotype-associated VAR_065220 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] VAR_065221 commonName VAR_065221 VAR_065221 disease phenotype-associated VAR_065221 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] VAR_065222 commonName VAR_065222 VAR_065222 disease phenotype-associated VAR_065222 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] VAR_065223 commonName VAR_065223 VAR_065223 disease phenotype-associated VAR_065223 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] VAR_065224 commonName VAR_065224 VAR_065224 disease phenotype-associated VAR_065224 phenoCommon GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777] VAR_065225 commonName VAR_065225 VAR_065225 disease not phenotype-associated VAR_065226 commonName VAR_065226 VAR_065227 commonName VAR_065227 VAR_065227 disease phenotype-associated VAR_065227 phenoCommon Neurofibromatosis 2 (NF2) [MIM:101000] VAR_065228 commonName VAR_065228 VAR_065228 disease phenotype-associated VAR_065228 phenoCommon Blau syndrome (BS) [MIM:186580] VAR_065229 commonName VAR_065229 VAR_065230 commonName VAR_065230 VAR_065230 disease phenotype-associated VAR_065230 phenoCommon Myotonia SCN4A-related (MYOSCN4A) [MIM:608390] VAR_065231 commonName VAR_065231 VAR_065231 disease phenotype-associated VAR_065231 phenoCommon Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300] VAR_065232 commonName VAR_065232 VAR_065233 commonName VAR_065233 VAR_065234 commonName VAR_065234 VAR_065235 commonName VAR_065235 VAR_065236 commonName VAR_065236 VAR_065236 disease phenotype-associated VAR_065236 phenoCommon Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321] VAR_065237 commonName VAR_065237 VAR_065237 disease not phenotype-associated VAR_065238 commonName VAR_065238 VAR_065238 disease not phenotype-associated VAR_065239 commonName VAR_065239 VAR_065239 disease not phenotype-associated VAR_065240 commonName VAR_065240 VAR_065240 disease not phenotype-associated VAR_065241 commonName VAR_065241 VAR_065241 disease phenotype-associated VAR_065241 phenoCommon Adrenal insufficiency congenital with 46,XY sex reversal (AICSR) [MIM:613743] VAR_065242 commonName VAR_065242 VAR_065242 disease phenotype-associated VAR_065242 phenoCommon Adrenal insufficiency congenital with 46,XY sex reversal (AICSR) [MIM:613743] VAR_065243 commonName VAR_065243 VAR_065243 disease phenotype-associated VAR_065243 phenoCommon Adrenal insufficiency congenital with 46,XY sex reversal (AICSR) [MIM:613743] VAR_065245 commonName VAR_065245 VAR_065245 disease phenotype-associated VAR_065245 phenoCommon Spastic paraplegia autosomal recessive type 35 (SPG35) [MIM:612319] VAR_065246 commonName VAR_065246 VAR_065246 disease not phenotype-associated VAR_065248 commonName VAR_065248 VAR_065248 disease not phenotype-associated VAR_065249 commonName VAR_065249 VAR_065249 disease not phenotype-associated VAR_065250 commonName VAR_065250 VAR_065250 disease not phenotype-associated VAR_065251 commonName VAR_065251 VAR_065251 disease not phenotype-associated VAR_065252 commonName VAR_065252 VAR_065252 disease not phenotype-associated VAR_065253 commonName VAR_065253 VAR_065253 disease not phenotype-associated VAR_065254 commonName VAR_065254 VAR_065254 disease not phenotype-associated VAR_065257 commonName VAR_065257 VAR_065257 disease not phenotype-associated VAR_065258 commonName VAR_065258 VAR_065258 disease phenotype-associated VAR_065258 phenoCommon Seckel syndrome type 5 (SCKL5) [MIM:613823] VAR_065259 commonName VAR_065259 VAR_065259 disease not phenotype-associated VAR_065260 commonName VAR_065260 VAR_065260 disease phenotype-associated VAR_065260 phenoCommon Hypomagnesemia type 6 (HOMG6) [MIM:613882] VAR_065263 commonName VAR_065263 VAR_065263 disease not phenotype-associated VAR_065264 commonName VAR_065264 VAR_065264 disease not phenotype-associated VAR_065265 commonName VAR_065265 VAR_065265 disease not phenotype-associated VAR_065266 commonName VAR_065266 VAR_065266 disease phenotype-associated VAR_065266 phenoCommon Muscular dystrophy-dystroglycanopathy limb-girdle type C7 (MDDGC7) [MIM:613818] VAR_065267 commonName VAR_065267 VAR_065267 disease not phenotype-associated VAR_065268 commonName VAR_065268 VAR_065268 disease not phenotype-associated VAR_065269 commonName VAR_065269 VAR_065269 disease not phenotype-associated VAR_065270 commonName VAR_065270 VAR_065270 disease not phenotype-associated VAR_065271 commonName VAR_065271 VAR_065271 disease not phenotype-associated VAR_065272 commonName VAR_065272 VAR_065272 disease not phenotype-associated VAR_065273 commonName VAR_065273 VAR_065273 disease phenotype-associated VAR_065273 phenoCommon Retinitis pigmentosa type 54 (RP54) [MIM:613428] VAR_065274 commonName VAR_065274 VAR_065274 disease not phenotype-associated VAR_065275 commonName VAR_065275 VAR_065275 disease phenotype-associated VAR_065275 phenoCommon Retinitis pigmentosa type 54 (RP54) [MIM:613428] VAR_065276 commonName VAR_065276 VAR_065276 disease phenotype-associated VAR_065276 phenoCommon Retinitis pigmentosa type 54 (RP54) [MIM:613428] VAR_065277 commonName VAR_065277 VAR_065277 disease not phenotype-associated VAR_065278 commonName VAR_065278 VAR_065278 disease not phenotype-associated VAR_065279 commonName VAR_065279 VAR_065279 disease not phenotype-associated VAR_065280 commonName VAR_065280 VAR_065280 disease not phenotype-associated VAR_065281 commonName VAR_065281 VAR_065281 disease not phenotype-associated VAR_065282 commonName VAR_065282 VAR_065282 disease not phenotype-associated VAR_065283 commonName VAR_065283 VAR_065283 disease not phenotype-associated VAR_065285 commonName VAR_065285 VAR_065285 disease not phenotype-associated VAR_065286 commonName VAR_065286 VAR_065286 disease not phenotype-associated VAR_065288 commonName VAR_065288 VAR_065288 disease not phenotype-associated VAR_065289 commonName VAR_065289 VAR_065289 disease phenotype-associated VAR_065289 phenoCommon Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050] VAR_065292 commonName VAR_065292 VAR_065292 disease phenotype-associated VAR_065292 phenoCommon Hyperchlorhidrosis isolated (HCHLH) [MIM:143860] VAR_065293 commonName VAR_065293 VAR_065293 disease phenotype-associated VAR_065293 phenoCommon Smith-McCort dysplasia (SMC) [MIM:607326] VAR_065294 commonName VAR_065294 VAR_065294 disease phenotype-associated VAR_065294 phenoCommon Acrocephalopolysyndactyly type 2 (ACPS2) [MIM:201000] VAR_065296 commonName VAR_065296 VAR_065296 disease phenotype-associated VAR_065296 phenoCommon Cataract-microcornea syndrome (CAMIS) [MIM:116150] VAR_065298 commonName VAR_065298 VAR_065299 commonName VAR_065299 VAR_065300 commonName VAR_065300 VAR_065301 commonName VAR_065301 VAR_065301 disease phenotype-associated VAR_065301 phenoCommon Goiter multinodular type 1 with or without Sertoli-Leydig cell tumors (MNG1) [MIM:138800] VAR_065303 commonName VAR_065303 VAR_065303 disease phenotype-associated VAR_065303 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_065304 commonName VAR_065304 VAR_065304 disease phenotype-associated VAR_065304 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_065305 commonName VAR_065305 VAR_065305 disease phenotype-associated VAR_065305 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_065306 commonName VAR_065306 VAR_065306 disease phenotype-associated VAR_065306 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_065307 commonName VAR_065307 VAR_065307 disease phenotype-associated VAR_065307 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_065308 commonName VAR_065308 VAR_065308 disease phenotype-associated VAR_065308 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_065309 commonName VAR_065309 VAR_065309 disease phenotype-associated VAR_065309 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_065310 commonName VAR_065310 VAR_065310 disease phenotype-associated VAR_065310 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_065311 commonName VAR_065311 VAR_065311 disease phenotype-associated VAR_065311 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_065312 commonName VAR_065312 VAR_065312 disease phenotype-associated VAR_065312 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_065313 commonName VAR_065313 VAR_065313 disease phenotype-associated VAR_065313 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_065314 commonName VAR_065314 VAR_065314 disease phenotype-associated VAR_065314 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_065315 commonName VAR_065315 VAR_065315 disease phenotype-associated VAR_065315 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_065316 commonName VAR_065316 VAR_065316 disease phenotype-associated VAR_065316 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_065317 commonName VAR_065317 VAR_065317 disease phenotype-associated VAR_065317 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_065318 commonName VAR_065318 VAR_065318 disease phenotype-associated VAR_065318 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_065319 commonName VAR_065319 VAR_065319 disease phenotype-associated VAR_065319 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_065320 commonName VAR_065320 VAR_065320 disease phenotype-associated VAR_065320 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_065321 commonName VAR_065321 VAR_065321 disease phenotype-associated VAR_065321 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_065322 commonName VAR_065322 VAR_065322 disease phenotype-associated VAR_065322 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_065323 commonName VAR_065323 VAR_065323 disease phenotype-associated VAR_065323 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_065324 commonName VAR_065324 VAR_065324 disease phenotype-associated VAR_065324 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_065325 commonName VAR_065325 VAR_065325 disease phenotype-associated VAR_065325 phenoCommon Hemophilia A (HEMA) [MIM:306700] VAR_065326 commonName VAR_065326 VAR_065326 disease phenotype-associated VAR_065326 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_065327 commonName VAR_065327 VAR_065327 disease phenotype-associated VAR_065327 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_065328 commonName VAR_065328 VAR_065328 disease phenotype-associated VAR_065328 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_065329 commonName VAR_065329 VAR_065329 disease phenotype-associated VAR_065329 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_065330 commonName VAR_065330 VAR_065330 disease phenotype-associated VAR_065330 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_065331 commonName VAR_065331 VAR_065331 disease phenotype-associated VAR_065331 phenoCommon Retinoschisis juvenile X-linked type 1 (XLRS1) [MIM:312700] VAR_065339 commonName VAR_065339 VAR_065339 disease phenotype-associated VAR_065339 phenoCommon Limb-girdle myasthenia with tubular aggregates (LGMTA) [MIM:610542] VAR_065340 commonName VAR_065340 VAR_065340 disease phenotype-associated VAR_065340 phenoCommon Limb-girdle myasthenia with tubular aggregates (LGMTA) [MIM:610542] VAR_065341 commonName VAR_065341 VAR_065341 disease phenotype-associated VAR_065341 phenoCommon Limb-girdle myasthenia with tubular aggregates (LGMTA) [MIM:610542] VAR_065342 commonName VAR_065342 VAR_065342 disease phenotype-associated VAR_065342 phenoCommon Limb-girdle myasthenia with tubular aggregates (LGMTA) [MIM:610542] VAR_065343 commonName VAR_065343 VAR_065343 disease phenotype-associated VAR_065343 phenoCommon Limb-girdle myasthenia with tubular aggregates (LGMTA) [MIM:610542] VAR_065344 commonName VAR_065344 VAR_065344 disease phenotype-associated VAR_065344 phenoCommon Limb-girdle myasthenia with tubular aggregates (LGMTA) [MIM:610542] VAR_065345 commonName VAR_065345 VAR_065345 disease phenotype-associated VAR_065345 phenoCommon Limb-girdle myasthenia with tubular aggregates (LGMTA) [MIM:610542] VAR_065346 commonName VAR_065346 VAR_065346 disease phenotype-associated VAR_065346 phenoCommon Limb-girdle myasthenia with tubular aggregates (LGMTA) [MIM:610542] VAR_065347 commonName VAR_065347 VAR_065347 disease phenotype-associated VAR_065347 phenoCommon Limb-girdle myasthenia with tubular aggregates (LGMTA) [MIM:610542] VAR_065348 commonName VAR_065348 VAR_065348 disease phenotype-associated VAR_065348 phenoCommon Limb-girdle myasthenia with tubular aggregates (LGMTA) [MIM:610542] VAR_065349 commonName VAR_065349 VAR_065349 disease phenotype-associated VAR_065349 phenoCommon Limb-girdle myasthenia with tubular aggregates (LGMTA) [MIM:610542] VAR_065350 commonName VAR_065350 VAR_065350 disease phenotype-associated VAR_065350 phenoCommon Limb-girdle myasthenia with tubular aggregates (LGMTA) [MIM:610542] VAR_065351 commonName VAR_065351 VAR_065351 disease phenotype-associated VAR_065351 phenoCommon Limb-girdle myasthenia with tubular aggregates (LGMTA) [MIM:610542] VAR_065352 commonName VAR_065352 VAR_065352 disease phenotype-associated VAR_065352 phenoCommon Deafness autosomal recessive type 42 (DFNB42) [MIM:609646] VAR_065353 commonName VAR_065353 VAR_065354 commonName VAR_065354 VAR_065354 disease not phenotype-associated VAR_065355 commonName VAR_065355 VAR_065355 disease phenotype-associated VAR_065355 phenoCommon Retinitis pigmentosa type 48 (RP48) [MIM:613827] VAR_065356 commonName VAR_065356 VAR_065356 disease phenotype-associated VAR_065356 phenoCommon Retinitis pigmentosa type 59 (RP59) [MIM:613861] VAR_065358 commonName VAR_065358 VAR_065358 disease not phenotype-associated VAR_065360 commonName VAR_065360 VAR_065360 disease phenotype-associated VAR_065360 phenoCommon Spinocerebellar ataxia type 35 (SCA35) [MIM:613908] VAR_065361 commonName VAR_065361 VAR_065361 disease phenotype-associated VAR_065361 phenoCommon Spinocerebellar ataxia type 35 (SCA35) [MIM:613908] VAR_065362 commonName VAR_065362 VAR_065362 disease phenotype-associated VAR_065362 phenoCommon Kallmann syndrome type 1 (KAL1) [MIM:308700] VAR_065363 commonName VAR_065363 VAR_065363 disease phenotype-associated VAR_065363 phenoCommon Kallmann syndrome type 1 (KAL1) [MIM:308700] VAR_065364 commonName VAR_065364 VAR_065364 disease phenotype-associated VAR_065364 phenoCommon Kallmann syndrome type 1 (KAL1) [MIM:308700] VAR_065365 commonName VAR_065365 VAR_065365 disease phenotype-associated VAR_065365 phenoCommon Mycobacteriosis atypical X-linked type 2 (AMCBX2) [MIM:300645] VAR_065366 commonName VAR_065366 VAR_065366 disease phenotype-associated VAR_065366 phenoCommon Mycobacteriosis atypical X-linked type 2 (AMCBX2) [MIM:300645] VAR_065367 commonName VAR_065367 VAR_065367 disease phenotype-associated VAR_065367 phenoCommon Bisphosphoglycerate mutase deficiency (BPGMD) [MIM:222800] VAR_065368 commonName VAR_065368 VAR_065368 disease phenotype-associated VAR_065368 phenoCommon Bisphosphoglycerate mutase deficiency (BPGMD) [MIM:222800] VAR_065370 commonName VAR_065370 VAR_065370 disease phenotype-associated VAR_065370 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065371 commonName VAR_065371 VAR_065371 disease phenotype-associated VAR_065371 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065373 commonName VAR_065373 VAR_065373 disease phenotype-associated VAR_065373 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065374 commonName VAR_065374 VAR_065374 disease phenotype-associated VAR_065374 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065375 commonName VAR_065375 VAR_065375 disease phenotype-associated VAR_065375 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065376 commonName VAR_065376 VAR_065376 disease phenotype-associated VAR_065376 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065377 commonName VAR_065377 VAR_065377 disease phenotype-associated VAR_065377 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065378 commonName VAR_065378 VAR_065378 disease phenotype-associated VAR_065378 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065379 commonName VAR_065379 VAR_065379 disease phenotype-associated VAR_065379 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065380 commonName VAR_065380 VAR_065380 disease phenotype-associated VAR_065380 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065381 commonName VAR_065381 VAR_065381 disease phenotype-associated VAR_065381 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065382 commonName VAR_065382 VAR_065382 disease phenotype-associated VAR_065382 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065383 commonName VAR_065383 VAR_065383 disease phenotype-associated VAR_065383 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065384 commonName VAR_065384 VAR_065384 disease phenotype-associated VAR_065384 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065385 commonName VAR_065385 VAR_065385 disease phenotype-associated VAR_065385 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065386 commonName VAR_065386 VAR_065386 disease phenotype-associated VAR_065386 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065387 commonName VAR_065387 VAR_065387 disease phenotype-associated VAR_065387 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065388 commonName VAR_065388 VAR_065388 disease phenotype-associated VAR_065388 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065389 commonName VAR_065389 VAR_065389 disease phenotype-associated VAR_065389 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065390 commonName VAR_065390 VAR_065390 disease phenotype-associated VAR_065390 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065391 commonName VAR_065391 VAR_065391 disease phenotype-associated VAR_065391 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065392 commonName VAR_065392 VAR_065392 disease phenotype-associated VAR_065392 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065393 commonName VAR_065393 VAR_065393 disease phenotype-associated VAR_065393 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065394 commonName VAR_065394 VAR_065394 disease phenotype-associated VAR_065394 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065395 commonName VAR_065395 VAR_065395 disease phenotype-associated VAR_065395 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065396 commonName VAR_065396 VAR_065396 disease phenotype-associated VAR_065396 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065397 commonName VAR_065397 VAR_065397 disease phenotype-associated VAR_065397 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065398 commonName VAR_065398 VAR_065398 disease phenotype-associated VAR_065398 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065399 commonName VAR_065399 VAR_065399 disease phenotype-associated VAR_065399 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065400 commonName VAR_065400 VAR_065400 disease phenotype-associated VAR_065400 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065401 commonName VAR_065401 VAR_065401 disease phenotype-associated VAR_065401 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065402 commonName VAR_065402 VAR_065402 disease phenotype-associated VAR_065402 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065403 commonName VAR_065403 VAR_065403 disease phenotype-associated VAR_065403 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065404 commonName VAR_065404 VAR_065404 disease phenotype-associated VAR_065404 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065405 commonName VAR_065405 VAR_065405 disease phenotype-associated VAR_065405 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065406 commonName VAR_065406 VAR_065406 disease phenotype-associated VAR_065406 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065407 commonName VAR_065407 VAR_065407 disease phenotype-associated VAR_065407 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065408 commonName VAR_065408 VAR_065408 disease phenotype-associated VAR_065408 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065409 commonName VAR_065409 VAR_065409 disease phenotype-associated VAR_065409 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065410 commonName VAR_065410 VAR_065410 disease phenotype-associated VAR_065410 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065411 commonName VAR_065411 VAR_065411 disease phenotype-associated VAR_065411 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065412 commonName VAR_065412 VAR_065412 disease phenotype-associated VAR_065412 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065413 commonName VAR_065413 VAR_065413 disease phenotype-associated VAR_065413 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065414 commonName VAR_065414 VAR_065414 disease phenotype-associated VAR_065414 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065415 commonName VAR_065415 VAR_065415 disease phenotype-associated VAR_065415 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065416 commonName VAR_065416 VAR_065416 disease phenotype-associated VAR_065416 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065417 commonName VAR_065417 VAR_065417 disease phenotype-associated VAR_065417 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065418 commonName VAR_065418 VAR_065418 disease phenotype-associated VAR_065418 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065419 commonName VAR_065419 VAR_065419 disease phenotype-associated VAR_065419 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065420 commonName VAR_065420 VAR_065420 disease phenotype-associated VAR_065420 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065421 commonName VAR_065421 VAR_065421 disease phenotype-associated VAR_065421 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065422 commonName VAR_065422 VAR_065422 disease phenotype-associated VAR_065422 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065423 commonName VAR_065423 VAR_065423 disease phenotype-associated VAR_065423 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065424 commonName VAR_065424 VAR_065424 disease phenotype-associated VAR_065424 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065425 commonName VAR_065425 VAR_065425 disease phenotype-associated VAR_065425 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065426 commonName VAR_065426 VAR_065426 disease phenotype-associated VAR_065426 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065427 commonName VAR_065427 VAR_065427 disease phenotype-associated VAR_065427 phenoCommon Factor VII deficiency (FA7D) [MIM:227500] VAR_065428 commonName VAR_065428 VAR_065428 disease phenotype-associated VAR_065428 phenoCommon Factor X deficiency (FA10D) [MIM:227600] VAR_065429 commonName VAR_065429 VAR_065429 disease phenotype-associated VAR_065429 phenoCommon Factor X deficiency (FA10D) [MIM:227600] VAR_065430 commonName VAR_065430 VAR_065430 disease phenotype-associated VAR_065430 phenoCommon Factor X deficiency (FA10D) [MIM:227600] VAR_065431 commonName VAR_065431 VAR_065431 disease phenotype-associated VAR_065431 phenoCommon Factor X deficiency (FA10D) [MIM:227600] VAR_065432 commonName VAR_065432 VAR_065432 disease phenotype-associated VAR_065432 phenoCommon Factor X deficiency (FA10D) [MIM:227600] VAR_065433 commonName VAR_065433 VAR_065433 disease phenotype-associated VAR_065433 phenoCommon Factor X deficiency (FA10D) [MIM:227600] VAR_065434 commonName VAR_065434 VAR_065435 commonName VAR_065435 VAR_065435 disease phenotype-associated VAR_065435 phenoCommon Factor X deficiency (FA10D) [MIM:227600] VAR_065436 commonName VAR_065436 VAR_065436 disease phenotype-associated VAR_065436 phenoCommon Factor X deficiency (FA10D) [MIM:227600] VAR_065437 commonName VAR_065437 VAR_065437 disease phenotype-associated VAR_065437 phenoCommon Factor X deficiency (FA10D) [MIM:227600] VAR_065438 commonName VAR_065438 VAR_065438 disease phenotype-associated VAR_065438 phenoCommon Factor X deficiency (FA10D) [MIM:227600] VAR_065439 commonName VAR_065439 VAR_065439 disease phenotype-associated VAR_065439 phenoCommon Factor X deficiency (FA10D) [MIM:227600] VAR_065440 commonName VAR_065440 VAR_065440 disease phenotype-associated VAR_065440 phenoCommon Factor X deficiency (FA10D) [MIM:227600] VAR_065441 commonName VAR_065441 VAR_065441 disease phenotype-associated VAR_065441 phenoCommon Factor X deficiency (FA10D) [MIM:227600] VAR_065442 commonName VAR_065442 VAR_065442 disease phenotype-associated VAR_065442 phenoCommon Factor X deficiency (FA10D) [MIM:227600] VAR_065443 commonName VAR_065443 VAR_065443 disease phenotype-associated VAR_065443 phenoCommon Factor X deficiency (FA10D) [MIM:227600] VAR_065444 commonName VAR_065444 VAR_065444 disease phenotype-associated VAR_065444 phenoCommon Factor X deficiency (FA10D) [MIM:227600] VAR_065445 commonName VAR_065445 VAR_065445 disease phenotype-associated VAR_065445 phenoCommon Factor X deficiency (FA10D) [MIM:227600] VAR_065446 commonName VAR_065446 VAR_065446 disease phenotype-associated VAR_065446 phenoCommon Factor X deficiency (FA10D) [MIM:227600] VAR_065447 commonName VAR_065447 VAR_065447 disease phenotype-associated VAR_065447 phenoCommon Factor X deficiency (FA10D) [MIM:227600] VAR_065448 commonName VAR_065448 VAR_065448 disease phenotype-associated VAR_065448 phenoCommon Factor X deficiency (FA10D) [MIM:227600] VAR_065449 commonName VAR_065449 VAR_065449 disease phenotype-associated VAR_065449 phenoCommon Factor X deficiency (FA10D) [MIM:227600] VAR_065450 commonName VAR_065450 VAR_065450 disease phenotype-associated VAR_065450 phenoCommon Factor X deficiency (FA10D) [MIM:227600] VAR_065451 commonName VAR_065451 VAR_065451 disease phenotype-associated VAR_065451 phenoCommon Factor X deficiency (FA10D) [MIM:227600] VAR_065452 commonName VAR_065452 VAR_065452 disease phenotype-associated VAR_065452 phenoCommon Factor X deficiency (FA10D) [MIM:227600] VAR_065453 commonName VAR_065453 VAR_065453 disease phenotype-associated VAR_065453 phenoCommon 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] VAR_065454 commonName VAR_065454 VAR_065454 disease phenotype-associated VAR_065454 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700] VAR_065455 commonName VAR_065455 VAR_065455 disease phenotype-associated VAR_065455 phenoCommon Tyrosinemia type 1 (TYRO1) [MIM:276700] VAR_065456 commonName VAR_065456 VAR_065456 disease not phenotype-associated VAR_065457 commonName VAR_065457 VAR_065457 disease not phenotype-associated VAR_065458 commonName VAR_065458 VAR_065458 disease not phenotype-associated VAR_065459 comment Some patients with early onset breast cancer VAR_065459 commonName VAR_065459 VAR_065460 comment Some patients with early onset breast cancer VAR_065460 commonName VAR_065460 VAR_065461 comment Some patients with early onset breast cancer VAR_065461 commonName VAR_065461 VAR_065462 comment Some patients with early onset breast cancer VAR_065462 commonName VAR_065462 VAR_065463 comment Some patients with early onset breast cancer VAR_065463 commonName VAR_065463 VAR_065464 comment Some patients with early onset breast cancer VAR_065464 commonName VAR_065464 VAR_065465 commonName VAR_065465 VAR_065465 disease not phenotype-associated VAR_065466 commonName VAR_065466 VAR_065469 commonName VAR_065469 VAR_065469 disease phenotype-associated VAR_065469 phenoCommon Familial hypertrophic cardiomyopathy type 16 (CMH16) [MIM:613838] VAR_065470 commonName VAR_065470 VAR_065470 disease phenotype-associated VAR_065470 phenoCommon Familial hypertrophic cardiomyopathy type 16 (CMH16) [MIM:613838] VAR_065471 commonName VAR_065471 VAR_065471 disease phenotype-associated VAR_065471 phenoCommon Familial hypertrophic cardiomyopathy type 17 (CMH17) [MIM:613873] VAR_065472 commonName VAR_065472 VAR_065472 disease phenotype-associated VAR_065472 phenoCommon Familial hypertrophic cardiomyopathy type 17 (CMH17) [MIM:613873] VAR_065473 commonName VAR_065473 VAR_065473 disease phenotype-associated VAR_065473 phenoCommon Familial hypertrophic cardiomyopathy type 17 (CMH17) [MIM:613873] VAR_065474 commonName VAR_065474 VAR_065474 disease not phenotype-associated VAR_065475 commonName VAR_065475 VAR_065476 commonName VAR_065476 VAR_065476 disease phenotype-associated VAR_065476 phenoCommon Familial hypertrophic cardiomyopathy type 19 (CMH19) [MIM:613875] VAR_065477 commonName VAR_065477 VAR_065477 disease phenotype-associated VAR_065477 phenoCommon Familial hypertrophic cardiomyopathy type 20 (CMH20) [MIM:613876] VAR_065478 commonName VAR_065478 VAR_065478 disease phenotype-associated VAR_065478 phenoCommon Familial hypertrophic cardiomyopathy type 20 (CMH20) [MIM:613876] VAR_065479 commonName VAR_065479 VAR_065479 disease phenotype-associated VAR_065479 phenoCommon Cardiomyopathy dilated type 1HH (CMD1HH) [MIM:613881] VAR_065480 commonName VAR_065480 VAR_065480 disease phenotype-associated VAR_065480 phenoCommon Cardiomyopathy dilated type 1HH (CMD1HH) [MIM:613881] VAR_065481 commonName VAR_065481 VAR_065481 disease phenotype-associated VAR_065481 phenoCommon Meier-Gorlin syndrome type 1 (MGORS1) [MIM:224690] VAR_065482 commonName VAR_065482 VAR_065482 disease phenotype-associated VAR_065482 phenoCommon Meier-Gorlin syndrome type 1 (MGORS1) [MIM:224690] VAR_065483 commonName VAR_065483 VAR_065483 disease phenotype-associated VAR_065483 phenoCommon Meier-Gorlin syndrome type 1 (MGORS1) [MIM:224690] VAR_065484 commonName VAR_065484 VAR_065484 disease phenotype-associated VAR_065484 phenoCommon Meier-Gorlin syndrome type 1 (MGORS1) [MIM:224690] VAR_065485 commonName VAR_065485 VAR_065485 disease phenotype-associated VAR_065485 phenoCommon Meier-Gorlin syndrome type 1 (MGORS1) [MIM:224690] VAR_065486 commonName VAR_065486 VAR_065486 disease phenotype-associated VAR_065486 phenoCommon Meier-Gorlin syndrome type 2 (MGORS2) [MIM:613800] VAR_065488 commonName VAR_065488 VAR_065488 disease phenotype-associated VAR_065488 phenoCommon Meier-Gorlin syndrome type 4 (MGORS4) [MIM:613804] VAR_065489 commonName VAR_065489 VAR_065489 disease phenotype-associated VAR_065489 phenoCommon Meier-Gorlin syndrome type 4 (MGORS4) [MIM:613804] VAR_065490 commonName VAR_065490 VAR_065490 disease phenotype-associated VAR_065490 phenoCommon Meier-Gorlin syndrome type 4 (MGORS4) [MIM:613804] VAR_065491 commonName VAR_065491 VAR_065491 disease phenotype-associated VAR_065491 phenoCommon Meier-Gorlin syndrome type 4 (MGORS4) [MIM:613804] VAR_065492 commonName VAR_065492 VAR_065492 disease phenotype-associated VAR_065492 phenoCommon Meier-Gorlin syndrome type 4 (MGORS4) [MIM:613804] VAR_065493 commonName VAR_065493 VAR_065493 disease phenotype-associated VAR_065493 phenoCommon Meier-Gorlin syndrome type 5 (MGORS5) [MIM:613805] VAR_065494 commonName VAR_065494 VAR_065494 disease phenotype-associated VAR_065494 phenoCommon Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980] VAR_065495 commonName VAR_065495 VAR_065495 disease phenotype-associated VAR_065495 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200] VAR_065496 commonName VAR_065496 VAR_065496 disease not phenotype-associated VAR_065497 commonName VAR_065497 VAR_065498 commonName VAR_065498 VAR_065498 disease phenotype-associated VAR_065498 phenoCommon Familial isolated hypoparathyroidism (FIH) [MIM:146200] VAR_065499 commonName VAR_065499 VAR_065499 disease phenotype-associated VAR_065499 phenoCommon Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] VAR_065500 commonName VAR_065500 VAR_065500 disease phenotype-associated VAR_065500 phenoCommon Leber congenital amaurosis type 15 (LCA15) [MIM:613843] VAR_065501 commonName VAR_065501 VAR_065501 disease phenotype-associated VAR_065501 phenoCommon Leber congenital amaurosis type 15 (LCA15) [MIM:613843] VAR_065504 commonName VAR_065504 VAR_065504 disease phenotype-associated VAR_065504 phenoCommon 46,XY sex reversal type 6 (SRXY6) [MIM:613762] VAR_065505 commonName VAR_065505 VAR_065505 disease phenotype-associated VAR_065505 phenoCommon 46,XY sex reversal type 6 (SRXY6) [MIM:613762] VAR_065507 commonName VAR_065507 VAR_065507 disease phenotype-associated VAR_065507 phenoCommon 46,XY sex reversal type 6 (SRXY6) [MIM:613762] VAR_065508 commonName VAR_065508 VAR_065508 disease phenotype-associated VAR_065508 phenoCommon Hereditary sensory neuropathy type 1D (HSN1D) [MIM:613708] VAR_065509 commonName VAR_065509 VAR_065509 disease phenotype-associated VAR_065509 phenoCommon Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600] VAR_065510 commonName VAR_065510 VAR_065510 disease phenotype-associated VAR_065510 phenoCommon Hereditary sensory neuropathy type 1D (HSN1D) [MIM:613708] VAR_065511 commonName VAR_065511 VAR_065511 disease phenotype-associated VAR_065511 phenoCommon Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600] VAR_065512 commonName VAR_065512 VAR_065512 disease phenotype-associated VAR_065512 phenoCommon Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600] VAR_065514 commonName VAR_065514 VAR_065515 commonName VAR_065515 VAR_065515 disease not phenotype-associated VAR_065516 commonName VAR_065516 VAR_065516 disease phenotype-associated VAR_065516 phenoCommon Nephronophthisis type 12 (NPHP12) [MIM:613820] VAR_065517 commonName VAR_065517 VAR_065517 disease phenotype-associated VAR_065517 phenoCommon Bardet-Biedl syndrome (BBS) [MIM:209900] VAR_065518 commonName VAR_065518 VAR_065518 disease phenotype-associated VAR_065518 phenoCommon Nephronophthisis type 12 (NPHP12) [MIM:613820] VAR_065519 commonName VAR_065519 VAR_065519 disease not phenotype-associated VAR_065520 commonName VAR_065520 VAR_065520 disease phenotype-associated VAR_065520 phenoCommon Asphyxiating thoracic dystrophy type 4 (ATD4) [MIM:613819] VAR_065520 phenoCommon Bardet-Biedl syndrome (BBS) [MIM:209900] VAR_065520 phenoCommon Nephronophthisis type 12 (NPHP12) [MIM:613820] VAR_065521 commonName VAR_065521 VAR_065521 disease not phenotype-associated VAR_065522 commonName VAR_065522 VAR_065522 disease phenotype-associated VAR_065522 phenoCommon Bardet-Biedl syndrome (BBS) [MIM:209900] VAR_065523 commonName VAR_065523 VAR_065523 disease not phenotype-associated VAR_065524 commonName VAR_065524 VAR_065525 commonName VAR_065525 VAR_065525 disease not phenotype-associated VAR_065526 commonName VAR_065526 VAR_065526 disease phenotype-associated VAR_065526 phenoCommon Bardet-Biedl syndrome (BBS) [MIM:209900] VAR_065527 commonName VAR_065527 VAR_065527 disease not phenotype-associated VAR_065528 commonName VAR_065528 VAR_065528 disease not phenotype-associated VAR_065529 commonName VAR_065529 VAR_065529 disease phenotype-associated VAR_065529 phenoCommon Nephronophthisis type 12 (NPHP12) [MIM:613820] VAR_065530 commonName VAR_065530 VAR_065530 disease phenotype-associated VAR_065530 phenoCommon Joubert syndrome (JBTS) [MIM:213300] VAR_065531 commonName VAR_065531 VAR_065531 disease not phenotype-associated VAR_065532 commonName VAR_065532 VAR_065532 disease not phenotype-associated VAR_065533 commonName VAR_065533 VAR_065533 disease not phenotype-associated VAR_065534 commonName VAR_065534 VAR_065534 disease not phenotype-associated VAR_065535 commonName VAR_065535 VAR_065535 disease phenotype-associated VAR_065535 phenoCommon Nephronophthisis type 12 (NPHP12) [MIM:613820] VAR_065536 commonName VAR_065536 VAR_065536 disease phenotype-associated VAR_065536 phenoCommon Asphyxiating thoracic dystrophy type 4 (ATD4) [MIM:613819] VAR_065537 commonName VAR_065537 VAR_065537 disease phenotype-associated VAR_065537 phenoCommon Asphyxiating thoracic dystrophy type 4 (ATD4) [MIM:613819] VAR_065538 commonName VAR_065538 VAR_065539 commonName VAR_065539 VAR_065539 disease phenotype-associated VAR_065539 phenoCommon Joubert syndrome (JBTS) [MIM:213300] VAR_065540 commonName VAR_065540 VAR_065541 commonName VAR_065541 VAR_065542 commonName VAR_065542 VAR_065543 commonName VAR_065543 VAR_065544 commonName VAR_065544 VAR_065545 commonName VAR_065545 VAR_065545 disease not phenotype-associated VAR_065546 commonName VAR_065546 VAR_065546 disease not phenotype-associated VAR_065547 commonName VAR_065547 VAR_065547 disease not phenotype-associated VAR_065548 commonName VAR_065548 VAR_065548 disease phenotype-associated VAR_065548 phenoCommon Bardet-Biedl syndrome (BBS) [MIM:209900] VAR_065549 commonName VAR_065549 VAR_065549 disease phenotype-associated VAR_065549 phenoCommon Nephronophthisis type 12 (NPHP12) [MIM:613820] VAR_065550 commonName VAR_065550 VAR_065550 disease phenotype-associated VAR_065550 phenoCommon Joubert syndrome (JBTS) [MIM:213300] VAR_065551 commonName VAR_065551 VAR_065551 disease phenotype-associated VAR_065551 phenoCommon Bardet-Biedl syndrome (BBS) [MIM:209900] VAR_065552 commonName VAR_065552 VAR_065552 disease not phenotype-associated VAR_065553 commonName VAR_065553 VAR_065553 disease not phenotype-associated VAR_065555 commonName VAR_065555 VAR_065556 commonName VAR_065556 VAR_065556 disease not phenotype-associated VAR_065557 commonName VAR_065557 VAR_065558 commonName VAR_065558 VAR_065558 disease phenotype-associated VAR_065558 phenoCommon Hepatoerythropoietic porphyria (HEP) [MIM:176100] VAR_065559 commonName VAR_065559 VAR_065559 disease phenotype-associated VAR_065559 phenoCommon Hepatoerythropoietic porphyria (HEP) [MIM:176100] VAR_065560 commonName VAR_065560 VAR_065560 disease phenotype-associated VAR_065560 phenoCommon Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400] VAR_065561 commonName VAR_065561 VAR_065561 disease phenotype-associated VAR_065561 phenoCommon Sick sinus syndrome type 3 (SSS3) [MIM:614090] VAR_065562 commonName VAR_065562 VAR_065562 disease phenotype-associated VAR_065562 phenoCommon Aminoacylase-1 deficiency (ACY1D) [MIM:609924] VAR_065563 commonName VAR_065563 VAR_065563 disease phenotype-associated VAR_065563 phenoCommon Aminoacylase-1 deficiency (ACY1D) [MIM:609924] VAR_065564 commonName VAR_065564 VAR_065564 disease phenotype-associated VAR_065564 phenoCommon Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050] VAR_065565 commonName VAR_065565 VAR_065565 disease phenotype-associated VAR_065565 phenoCommon Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050] VAR_065566 commonName VAR_065566 VAR_065566 disease phenotype-associated VAR_065566 phenoCommon Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050] HbVar.685 commonName Hb C-Harlem VAR_065567 commonName VAR_065567 VAR_065567 disease phenotype-associated VAR_065567 phenoCommon Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050] VAR_065568 commonName VAR_065568 VAR_065568 disease phenotype-associated VAR_065568 phenoCommon Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050] VAR_065569 commonName VAR_065569 VAR_065569 disease phenotype-associated VAR_065569 phenoCommon Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050] VAR_065570 commonName VAR_065570 VAR_065570 disease not phenotype-associated VAR_065571 commonName VAR_065571 VAR_065571 disease not phenotype-associated VAR_065572 commonName VAR_065572 VAR_065572 disease not phenotype-associated VAR_065573 commonName VAR_065573 VAR_065573 disease not phenotype-associated VAR_065574 commonName VAR_065574 VAR_065575 commonName VAR_065575 VAR_065580 commonName VAR_065580 VAR_065580 disease phenotype-associated VAR_065580 phenoCommon Progressive myoclonic epilepsy type 1B (EPM1B) [MIM:612437] VAR_065581 commonName VAR_065581 VAR_065581 disease phenotype-associated VAR_065581 phenoCommon Progressive myoclonic epilepsy type 1B (EPM1B) [MIM:612437] VAR_065582 commonName VAR_065582 VAR_065582 disease phenotype-associated VAR_065582 phenoCommon Progressive myoclonic epilepsy type 5 (EPM5) [MIM:613832] VAR_065583 commonName VAR_065583 VAR_065583 disease phenotype-associated VAR_065583 phenoCommon Progressive myoclonic epilepsy type 5 (EPM5) [MIM:613832] VAR_065584 commonName VAR_065584 VAR_065584 disease phenotype-associated VAR_065584 phenoCommon Progressive myoclonic epilepsy type 5 (EPM5) [MIM:613832] VAR_065585 commonName VAR_065585 VAR_065585 disease phenotype-associated VAR_065585 phenoCommon Pontocerebellar hypoplasia type 2D (PCH2D) [MIM:613811] VAR_065586 commonName VAR_065586 VAR_065586 disease phenotype-associated VAR_065586 phenoCommon Pontocerebellar hypoplasia type 2D (PCH2D) [MIM:613811] VAR_065587 commonName VAR_065587 VAR_065587 disease phenotype-associated VAR_065587 phenoCommon Retinitis pigmentosa type 33 (RP33) [MIM:610359] VAR_065588 commonName VAR_065588 VAR_065588 disease phenotype-associated VAR_065588 phenoCommon Retinitis pigmentosa type 33 (RP33) [MIM:610359] VAR_065589 commonName VAR_065589 VAR_065589 disease phenotype-associated VAR_065589 phenoCommon Retinitis pigmentosa type 33 (RP33) [MIM:610359] VAR_065590 commonName VAR_065590 VAR_065590 disease phenotype-associated VAR_065590 phenoCommon Retinitis pigmentosa type 33 (RP33) [MIM:610359] VAR_065591 commonName VAR_065591 VAR_065591 disease phenotype-associated VAR_065591 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009] VAR_065592 commonName VAR_065592 VAR_065592 disease phenotype-associated VAR_065592 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009] VAR_065593 commonName VAR_065593 VAR_065593 disease phenotype-associated VAR_065593 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009] VAR_065594 commonName VAR_065594 VAR_065594 disease phenotype-associated VAR_065594 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009] VAR_065595 commonName VAR_065595 VAR_065595 disease phenotype-associated VAR_065595 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009] VAR_065596 commonName VAR_065596 VAR_065596 disease phenotype-associated VAR_065596 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009] VAR_065597 commonName VAR_065597 VAR_065597 disease phenotype-associated VAR_065597 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009] VAR_065598 commonName VAR_065598 VAR_065598 disease phenotype-associated VAR_065598 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009] VAR_065600 commonName VAR_065600 VAR_065600 disease phenotype-associated VAR_065600 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009] VAR_065601 commonName VAR_065601 HbVar.685 alias Hb C-Georgetown VAR_065601 disease phenotype-associated VAR_065601 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009] VAR_065602 commonName VAR_065602 VAR_065602 disease phenotype-associated VAR_065602 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009] VAR_065603 commonName VAR_065603 VAR_065603 disease phenotype-associated VAR_065603 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009] VAR_065604 commonName VAR_065604 VAR_065604 disease phenotype-associated VAR_065604 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009] VAR_065605 commonName VAR_065605 VAR_065605 disease phenotype-associated VAR_065605 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009] VAR_065606 commonName VAR_065606 VAR_065606 disease phenotype-associated VAR_065606 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009] VAR_065607 commonName VAR_065607 VAR_065607 disease phenotype-associated VAR_065607 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009] VAR_065608 commonName VAR_065608 VAR_065608 disease phenotype-associated VAR_065608 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009] VAR_065609 commonName VAR_065609 VAR_065609 disease phenotype-associated VAR_065609 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009] VAR_065610 commonName VAR_065610 VAR_065610 disease phenotype-associated VAR_065610 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009] VAR_065611 commonName VAR_065611 VAR_065611 disease phenotype-associated VAR_065611 phenoCommon Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis (LMWPHN) [MIM:308990] VAR_065612 commonName VAR_065612 VAR_065612 disease phenotype-associated VAR_065612 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009] VAR_065613 commonName VAR_065613 VAR_065613 disease phenotype-associated VAR_065613 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009] VAR_065614 commonName VAR_065614 VAR_065614 disease phenotype-associated VAR_065614 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009] VAR_065615 commonName VAR_065615 VAR_065615 disease phenotype-associated VAR_065615 phenoCommon Nephrolithiasis type 2 (NPHL2) [MIM:300009] VAR_065616 commonName VAR_065616 VAR_065616 disease phenotype-associated VAR_065616 phenoCommon Leber congenital amaurosis type 11 (LCA11) [MIM:613837] VAR_065617 commonName VAR_065617 VAR_065617 disease phenotype-associated VAR_065617 phenoCommon Retinitis pigmentosa type 10 (RP10) [MIM:180105] VAR_065618 commonName VAR_065618 VAR_065618 disease phenotype-associated VAR_065618 phenoCommon Leber congenital amaurosis type 11 (LCA11) [MIM:613837] VAR_065619 commonName VAR_065619 VAR_065619 disease not phenotype-associated VAR_065620 commonName VAR_065620 VAR_065621 commonName VAR_065621 VAR_065621 disease phenotype-associated VAR_065621 phenoCommon Retinitis pigmentosa type 10 (RP10) [MIM:180105] VAR_065627 comment Cervical cancer VAR_065627 commonName VAR_065627 VAR_065628 commonName VAR_065628 VAR_065628 disease phenotype-associated VAR_065628 phenoCommon Peutz-Jeghers syndrome (PJS) [MIM:175200] VAR_065629 comment Cervical carcinoma VAR_065629 commonName VAR_065629 VAR_065630 comment Sporadic cancer VAR_065630 commonName VAR_065630 VAR_065631 comment Sporadic cancer VAR_065631 commonName VAR_065631 VAR_065632 comment Sporadic cancer VAR_065632 commonName VAR_065632 VAR_065633 comment Cervical cancer VAR_065633 commonName VAR_065633 VAR_065634 comment Sporadic cancer VAR_065634 commonName VAR_065634 VAR_065635 comment Colorectal cancer VAR_065635 commonName VAR_065635 VAR_065636 comment Sporadic cancer VAR_065636 commonName VAR_065636 VAR_065637 comment Sporadic cancer VAR_065637 commonName VAR_065637 VAR_065638 comment Sporadic cancer VAR_065638 commonName VAR_065638 VAR_065639 comment Sporadic cancer VAR_065639 commonName VAR_065639 VAR_065640 comment Lung cancer VAR_065640 commonName VAR_065640 VAR_065641 comment Colorectal cancer VAR_065641 commonName VAR_065641 VAR_065642 comment Sporadic cancer VAR_065642 commonName VAR_065642 VAR_065643 comment Sporadic cancer VAR_065643 commonName VAR_065643 VAR_065644 comment Colorectal cancer VAR_065644 commonName VAR_065644 VAR_065645 comment Colorectal cancer VAR_065645 commonName VAR_065645 VAR_065646 comment Sporadic cancer VAR_065646 commonName VAR_065646 VAR_065647 comment Sporadic cancer VAR_065647 commonName VAR_065647 VAR_065648 comment Sporadic cancer VAR_065648 commonName VAR_065648 VAR_065649 comment Cervical cancer VAR_065649 commonName VAR_065649 VAR_065650 comment Sporadic cancer VAR_065650 commonName VAR_065650 VAR_065651 comment Sporadic cancer VAR_065651 commonName VAR_065651 VAR_065652 comment Sporadic cancer VAR_065652 commonName VAR_065652 VAR_065653 comment Sporadic cancer VAR_065653 commonName VAR_065653 VAR_065654 comment Sporadic cancer VAR_065654 commonName VAR_065654 VAR_065655 comment Ovarian carcinoma VAR_065655 commonName VAR_065655 VAR_065656 comment Sporadic cancer VAR_065656 commonName VAR_065656 VAR_065657 comment Colorectal cancer VAR_065657 commonName VAR_065657 VAR_065658 comment Gastric carcinoma VAR_065658 commonName VAR_065658 VAR_065659 comment Colorectal cancer VAR_065659 commonName VAR_065659 VAR_065660 comment Colorectal cancer VAR_065660 commonName VAR_065660 VAR_065661 commonName VAR_065661 VAR_065661 disease phenotype-associated VAR_065661 phenoCommon Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920] VAR_065662 commonName VAR_065662 VAR_065662 disease phenotype-associated VAR_065662 phenoCommon Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920] VAR_065663 commonName VAR_065663 VAR_065663 disease phenotype-associated VAR_065663 phenoCommon Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920] VAR_065665 commonName VAR_065665 VAR_065665 disease phenotype-associated VAR_065665 phenoCommon Adrenal hyperplasia type 2 (AH2) [MIM:201810] VAR_065666 commonName VAR_065666 VAR_065666 disease phenotype-associated VAR_065666 phenoCommon Adrenal hyperplasia type 4 (AH4) [MIM:202010] VAR_065667 commonName VAR_065667 VAR_065667 disease phenotype-associated VAR_065667 phenoCommon Adrenal hyperplasia type 4 (AH4) [MIM:202010] VAR_065679 comment Acute lymphoblastic leukemia patients VAR_065679 commonName VAR_065679 VAR_065680 comment Acute lymphoblastic leukemia patients VAR_065680 commonName VAR_065680 VAR_065681 comment Acute lymphoblastic leukemia patients VAR_065681 commonName VAR_065681 VAR_065682 comment Acute lymphoblastic leukemia patients VAR_065682 commonName VAR_065682 VAR_065683 comment Acute lymphoblastic leukemia patients VAR_065683 commonName VAR_065683 VAR_065684 comment Acute lymphoblastic leukemia patients VAR_065684 commonName VAR_065684 VAR_065685 commonName VAR_065685 VAR_065685 disease phenotype-associated VAR_065685 phenoCommon Familial hemiplegic migraine type 2 (FHM2) [MIM:602481] VAR_065686 commonName VAR_065686 VAR_065686 disease phenotype-associated VAR_065686 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 10 (ARVD10) [MIM:610193] VAR_065687 commonName VAR_065687 VAR_065687 disease phenotype-associated VAR_065687 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 11 (ARVD11) [MIM:610476] VAR_065688 commonName VAR_065688 VAR_065688 disease phenotype-associated VAR_065688 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 11 (ARVD11) [MIM:610476] VAR_065689 commonName VAR_065689 VAR_065689 disease phenotype-associated VAR_065689 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 11 (ARVD11) [MIM:610476] VAR_065690 commonName VAR_065690 VAR_065690 disease phenotype-associated VAR_065690 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 11 (ARVD11) [MIM:610476] VAR_065691 commonName VAR_065691 VAR_065691 disease not phenotype-associated VAR_065692 commonName VAR_065692 VAR_065692 disease not phenotype-associated VAR_065693 commonName VAR_065693 VAR_065693 disease phenotype-associated VAR_065693 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 8 (ARVD8) [MIM:607450] VAR_065694 commonName VAR_065694 VAR_065694 disease not phenotype-associated VAR_065695 commonName VAR_065695 VAR_065695 disease not phenotype-associated VAR_065696 commonName VAR_065696 VAR_065696 disease not phenotype-associated VAR_065697 commonName VAR_065697 VAR_065697 disease not phenotype-associated VAR_065698 commonName VAR_065698 VAR_065698 disease phenotype-associated VAR_065698 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 12 (ARVD12) [MIM:611528] VAR_065699 commonName VAR_065699 VAR_065699 disease not phenotype-associated VAR_065700 commonName VAR_065700 VAR_065700 disease not phenotype-associated VAR_065701 commonName VAR_065701 VAR_065702 commonName VAR_065702 VAR_065702 disease not phenotype-associated VAR_065703 commonName VAR_065703 VAR_065704 commonName VAR_065704 VAR_065704 disease not phenotype-associated VAR_065705 commonName VAR_065705 VAR_065705 disease phenotype-associated VAR_065705 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9) [MIM:609040] VAR_065706 commonName VAR_065706 VAR_065706 disease phenotype-associated VAR_065706 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9) [MIM:609040] VAR_065707 commonName VAR_065707 VAR_065707 disease not phenotype-associated VAR_065708 commonName VAR_065708 VAR_065708 disease not phenotype-associated VAR_065709 commonName VAR_065709 VAR_065710 commonName VAR_065710 VAR_065710 disease not phenotype-associated VAR_065711 commonName VAR_065711 VAR_065711 disease phenotype-associated VAR_065711 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9) [MIM:609040] VAR_065712 commonName VAR_065712 VAR_065712 disease not phenotype-associated VAR_065713 commonName VAR_065713 VAR_065713 disease not phenotype-associated VAR_065714 commonName VAR_065714 VAR_065714 disease not phenotype-associated VAR_065715 commonName VAR_065715 VAR_065716 commonName VAR_065716 VAR_065716 disease phenotype-associated VAR_065716 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9) [MIM:609040] VAR_065717 commonName VAR_065717 VAR_065718 commonName VAR_065718 VAR_065718 disease phenotype-associated VAR_065718 phenoCommon Familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9) [MIM:609040] VAR_065719 commonName VAR_065719 VAR_065719 disease phenotype-associated VAR_065719 phenoCommon Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665] VAR_065720 commonName VAR_065720 VAR_065720 disease not phenotype-associated VAR_065721 commonName VAR_065721 VAR_065721 disease not phenotype-associated VAR_065722 commonName VAR_065722 VAR_065723 commonName VAR_065723 VAR_065724 commonName VAR_065724 VAR_065724 disease not phenotype-associated VAR_065725 commonName VAR_065725 VAR_065725 disease not phenotype-associated VAR_065726 commonName VAR_065726 VAR_065726 disease not phenotype-associated VAR_065727 commonName VAR_065727 VAR_065727 disease not phenotype-associated VAR_065728 commonName VAR_065728 VAR_065729 commonName VAR_065729 VAR_065729 disease not phenotype-associated VAR_065739 commonName VAR_065739 VAR_065739 disease phenotype-associated VAR_065739 phenoCommon Primary ciliary dyskinesia type 16 (CILD16) [MIM:614017] VAR_065740 commonName VAR_065740 VAR_065741 commonName VAR_065741 VAR_065742 commonName VAR_065742 VAR_065743 commonName VAR_065743 VAR_065744 commonName VAR_065744 VAR_065744 disease not phenotype-associated VAR_065745 commonName VAR_065745 VAR_065745 disease not phenotype-associated VAR_065746 commonName VAR_065746 VAR_065747 commonName VAR_065747 VAR_065748 commonName VAR_065748 VAR_065749 commonName VAR_065749 VAR_065750 commonName VAR_065750 VAR_065751 commonName VAR_065751 VAR_065752 commonName VAR_065752 VAR_065752 disease not phenotype-associated VAR_065754 commonName VAR_065754 VAR_065755 commonName VAR_065755 VAR_065756 commonName VAR_065756 VAR_065758 commonName VAR_065758 VAR_065758 disease not phenotype-associated VAR_065759 commonName VAR_065759 VAR_065760 commonName VAR_065760 VAR_065760 disease not phenotype-associated VAR_065761 commonName VAR_065761 VAR_065761 disease not phenotype-associated VAR_065762 commonName VAR_065762 VAR_065762 disease not phenotype-associated VAR_065763 commonName VAR_065763 VAR_065764 commonName VAR_065764 VAR_065765 commonName VAR_065765 VAR_065765 disease phenotype-associated VAR_065765 phenoCommon Limb pelvis hypoplasia aplasia syndrome (LPHAS) [MIM:276820] VAR_065766 commonName VAR_065766 VAR_065766 disease phenotype-associated VAR_065766 phenoCommon Craniodiaphyseal dysplasia autosomal dominant (CDD) [MIM:122860] VAR_065767 commonName VAR_065767 VAR_065767 disease phenotype-associated VAR_065767 phenoCommon Craniodiaphyseal dysplasia autosomal dominant (CDD) [MIM:122860] VAR_065768 commonName VAR_065768 VAR_065768 disease phenotype-associated VAR_065768 phenoCommon Retinitis pigmentosa type 60 (RP60) [MIM:613983] VAR_065769 commonName VAR_065769 VAR_065769 disease phenotype-associated VAR_065769 phenoCommon Nephronophthisis type 9 (NPHP9) [MIM:613824] VAR_065770 commonName VAR_065770 VAR_065770 disease phenotype-associated VAR_065770 phenoCommon Nephronophthisis type 9 (NPHP9) [MIM:613824] VAR_065771 commonName VAR_065771 VAR_065771 disease phenotype-associated VAR_065771 phenoCommon Nephronophthisis type 9 (NPHP9) [MIM:613824] VAR_065772 commonName VAR_065772 VAR_065772 disease phenotype-associated VAR_065772 phenoCommon Hypouricemia renal type 2 (RHUC2) [MIM:612076] VAR_065773 commonName VAR_065773 VAR_065773 disease phenotype-associated VAR_065773 phenoCommon Hypouricemia renal type 2 (RHUC2) [MIM:612076] VAR_065774 commonName VAR_065774 VAR_065774 disease phenotype-associated VAR_065774 phenoCommon Hypouricemia renal type 2 (RHUC2) [MIM:612076] VAR_065775 commonName VAR_065775 VAR_065775 disease phenotype-associated VAR_065775 phenoCommon Hypouricemia renal type 2 (RHUC2) [MIM:612076] VAR_065776 commonName VAR_065776 VAR_065776 disease phenotype-associated VAR_065776 phenoCommon Hypouricemia renal type 2 (RHUC2) [MIM:612076] VAR_065777 commonName VAR_065777 VAR_065777 disease phenotype-associated VAR_065777 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_065778 commonName VAR_065778 VAR_065778 disease phenotype-associated VAR_065778 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_065779 commonName VAR_065779 VAR_065779 disease phenotype-associated VAR_065779 phenoCommon Deafness autosomal dominant type 2A (DFNA2A) [MIM:600101] VAR_065780 commonName VAR_065780 VAR_065781 commonName VAR_065781 VAR_065782 commonName VAR_065782 VAR_065783 commonName VAR_065783 VAR_065784 commonName VAR_065784 VAR_065784 disease phenotype-associated VAR_065784 phenoCommon GLUT1 deficiency syndrome type 2 (GLUT1DS2) [MIM:612126] VAR_065785 commonName VAR_065785 VAR_065785 disease phenotype-associated VAR_065785 phenoCommon Coumarin resistance (CMRES) [MIM:122700] VAR_065786 commonName VAR_065786 VAR_065786 disease phenotype-associated VAR_065786 phenoCommon Coumarin resistance (CMRES) [MIM:122700] VAR_065787 commonName VAR_065787 VAR_065787 disease phenotype-associated VAR_065787 phenoCommon Coumarin resistance (CMRES) [MIM:122700] VAR_065788 commonName VAR_065788 VAR_065788 disease phenotype-associated VAR_065788 phenoCommon Coumarin resistance (CMRES) [MIM:122700] VAR_065789 commonName VAR_065789 VAR_065789 disease phenotype-associated VAR_065789 phenoCommon Coumarin resistance (CMRES) [MIM:122700] VAR_065790 commonName VAR_065790 VAR_065790 disease phenotype-associated VAR_065790 phenoCommon Coumarin resistance (CMRES) [MIM:122700] VAR_065791 commonName VAR_065791 VAR_065791 disease phenotype-associated VAR_065791 phenoCommon Coumarin resistance (CMRES) [MIM:122700] VAR_065792 commonName VAR_065792 VAR_065792 disease phenotype-associated VAR_065792 phenoCommon Coumarin resistance (CMRES) [MIM:122700] VAR_065793 commonName VAR_065793 VAR_065793 disease phenotype-associated VAR_065793 phenoCommon Coumarin resistance (CMRES) [MIM:122700] VAR_065794 commonName VAR_065794 VAR_065794 disease phenotype-associated VAR_065794 phenoCommon Coumarin resistance (CMRES) [MIM:122700] VAR_065795 commonName VAR_065795 VAR_065795 disease phenotype-associated VAR_065795 phenoCommon Coumarin resistance (CMRES) [MIM:122700] VAR_065796 commonName VAR_065796 VAR_065796 disease phenotype-associated VAR_065796 phenoCommon Coumarin resistance (CMRES) [MIM:122700] VAR_065797 commonName VAR_065797 VAR_065797 disease phenotype-associated VAR_065797 phenoCommon Coumarin resistance (CMRES) [MIM:122700] VAR_065798 commonName VAR_065798 VAR_065798 disease phenotype-associated VAR_065798 phenoCommon Coumarin resistance (CMRES) [MIM:122700] VAR_065799 commonName VAR_065799 VAR_065799 disease not phenotype-associated VAR_065800 commonName VAR_065800 VAR_065800 disease phenotype-associated VAR_065800 phenoCommon Schizophrenia type 15 (SCZD15) [MIM:613950] VAR_065801 commonName VAR_065801 VAR_065801 disease not phenotype-associated VAR_065802 commonName VAR_065802 VAR_065802 disease not phenotype-associated VAR_065809 commonName VAR_065809 VAR_065809 disease phenotype-associated VAR_065809 phenoCommon Amyloidosis primary localized cutaneous type 2 (PLCA2) [MIM:613955] VAR_065810 commonName VAR_065810 VAR_065810 disease phenotype-associated VAR_065810 phenoCommon Amyloidosis primary localized cutaneous type 1 (PLCA1) [MIM:105250] VAR_065811 commonName VAR_065811 VAR_065811 disease phenotype-associated VAR_065811 phenoCommon Amyloidosis primary localized cutaneous type 1 (PLCA1) [MIM:105250] VAR_065812 commonName VAR_065812 VAR_065812 disease phenotype-associated VAR_065812 phenoCommon Amyloidosis primary localized cutaneous type 1 (PLCA1) [MIM:105250] VAR_065813 commonName VAR_065813 VAR_065813 disease phenotype-associated VAR_065813 phenoCommon Familial candidiasis type 6 (CANDF6) [MIM:613956] VAR_065815 commonName VAR_065815 VAR_065815 disease phenotype-associated VAR_065815 phenoCommon STAT1 deficiency complete (STAT1D) [MIM:613796] VAR_065816 commonName VAR_065816 VAR_065816 disease phenotype-associated VAR_065816 phenoCommon Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950] VAR_065817 commonName VAR_065817 VAR_065817 disease phenotype-associated VAR_065817 phenoCommon Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950] VAR_065818 commonName VAR_065818 VAR_065818 disease phenotype-associated VAR_065818 phenoCommon Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD) [MIM:613839] VAR_065819 commonName VAR_065819 VAR_065819 disease phenotype-associated VAR_065819 phenoCommon Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD) [MIM:613839] VAR_065823 commonName VAR_065823 VAR_065823 disease phenotype-associated VAR_065823 phenoCommon Diaphanospondylodysostosis (DSD) [MIM:608022] VAR_065824 commonName VAR_065824 VAR_065824 disease not phenotype-associated VAR_065825 commonName VAR_065825 VAR_065825 disease not phenotype-associated VAR_065826 commonName VAR_065826 VAR_065826 disease phenotype-associated VAR_065826 phenoCommon Multiple self-healing squamous epithelioma (MSSE) [MIM:132800] VAR_065827 commonName VAR_065827 VAR_065827 disease phenotype-associated VAR_065827 phenoCommon Multiple self-healing squamous epithelioma (MSSE) [MIM:132800] VAR_065828 commonName VAR_065828 VAR_065828 disease phenotype-associated VAR_065828 phenoCommon Multiple self-healing squamous epithelioma (MSSE) [MIM:132800] VAR_065829 commonName VAR_065829 VAR_065829 disease phenotype-associated VAR_065829 phenoCommon Multiple self-healing squamous epithelioma (MSSE) [MIM:132800] VAR_065830 comment Melanoma VAR_065830 commonName VAR_065830 VAR_065831 comment A lung carcinoma sample VAR_065831 commonName VAR_065831 VAR_065832 comment A lung carcinoma sample VAR_065832 commonName VAR_065832 VAR_065833 commonName VAR_065833 VAR_065833 disease phenotype-associated VAR_065833 phenoCommon Progressive myoclonic epilepsy type 6 (EPM6) [MIM:614018] VAR_065834 commonName VAR_065834 VAR_065834 disease phenotype-associated VAR_065834 phenoCommon Neuronal ceroid lipofuscinosis type 4A (CLN4A) [MIM:204300] VAR_065835 commonName VAR_065835 VAR_065835 disease not phenotype-associated VAR_065836 commonName VAR_065836 VAR_065836 disease phenotype-associated VAR_065836 phenoCommon Neuronal ceroid lipofuscinosis type 4A (CLN4A) [MIM:204300] VAR_065837 commonName VAR_065837 VAR_065837 disease phenotype-associated VAR_065837 phenoCommon Neuronal ceroid lipofuscinosis type 4A (CLN4A) [MIM:204300] VAR_065838 commonName VAR_065838 VAR_065838 disease phenotype-associated VAR_065838 phenoCommon Neuronal ceroid lipofuscinosis type 4A (CLN4A) [MIM:204300] VAR_065839 commonName VAR_065839 VAR_065839 disease phenotype-associated VAR_065839 phenoCommon Neuronal ceroid lipofuscinosis type 4A (CLN4A) [MIM:204300] VAR_065840 commonName VAR_065840 VAR_065840 disease phenotype-associated VAR_065840 phenoCommon Neuronal ceroid lipofuscinosis type 4A (CLN4A) [MIM:204300] VAR_065841 commonName VAR_065841 VAR_065841 disease phenotype-associated VAR_065841 phenoCommon Neuronal ceroid lipofuscinosis type 4A (CLN4A) [MIM:204300] VAR_065842 commonName VAR_065842 VAR_065842 disease not phenotype-associated VAR_065843 commonName VAR_065843 VAR_065843 disease phenotype-associated VAR_065843 phenoCommon Microcephaly primary type 2 (MCPH2) [MIM:604317] VAR_065844 commonName VAR_065844 VAR_065844 disease phenotype-associated VAR_065844 phenoCommon Microcephaly primary type 2 (MCPH2) [MIM:604317] VAR_065845 commonName VAR_065845 VAR_065845 disease phenotype-associated VAR_065845 phenoCommon Microcephaly primary type 2 (MCPH2) [MIM:604317] VAR_065846 commonName VAR_065846 VAR_065846 disease phenotype-associated VAR_065846 phenoCommon Immunodeficiency-centromeric instability-facial anomalies syndrome type 2 (ICF2) [MIM:614069] VAR_065847 commonName VAR_065847 VAR_065847 disease phenotype-associated VAR_065847 phenoCommon Chondrodysplasia with joint dislocations GPAPP type (CDP-GPAPP) [MIM:614078] VAR_065848 commonName VAR_065848 VAR_065848 disease phenotype-associated VAR_065848 phenoCommon Chondrodysplasia with joint dislocations GPAPP type (CDP-GPAPP) [MIM:614078] VAR_065849 commonName VAR_065849 VAR_065849 disease phenotype-associated VAR_065849 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 2A (MLC2A) [MIM:613925] VAR_065850 commonName VAR_065850 VAR_065850 disease phenotype-associated VAR_065850 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 2B (MLC2B) [MIM:613926] VAR_065851 commonName VAR_065851 VAR_065851 disease phenotype-associated VAR_065851 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 2B (MLC2B) [MIM:613926] VAR_065852 commonName VAR_065852 VAR_065852 disease phenotype-associated VAR_065852 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 2A (MLC2A) [MIM:613925] VAR_065853 commonName VAR_065853 VAR_065853 disease phenotype-associated VAR_065853 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 2B (MLC2B) [MIM:613926] VAR_065854 commonName VAR_065854 VAR_065854 disease phenotype-associated VAR_065854 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 2A (MLC2A) [MIM:613925] VAR_065855 commonName VAR_065855 VAR_065855 disease phenotype-associated VAR_065855 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 2B (MLC2B) [MIM:613926] VAR_065857 commonName VAR_065857 VAR_065857 disease phenotype-associated VAR_065857 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 2A (MLC2A) [MIM:613925] VAR_065858 commonName VAR_065858 VAR_065858 disease phenotype-associated VAR_065858 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 2A (MLC2A) [MIM:613925] VAR_065859 commonName VAR_065859 VAR_065859 disease phenotype-associated VAR_065859 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 2A (MLC2A) [MIM:613925] VAR_065860 commonName VAR_065860 VAR_065860 disease phenotype-associated VAR_065860 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 2B (MLC2B) [MIM:613926] VAR_065861 commonName VAR_065861 VAR_065861 disease phenotype-associated VAR_065861 phenoCommon Long QT syndrome type 7 (LQT7) [MIM:170390] VAR_065862 commonName VAR_065862 VAR_065862 disease phenotype-associated VAR_065862 phenoCommon Long QT syndrome type 7 (LQT7) [MIM:170390] VAR_065863 commonName VAR_065863 VAR_065863 disease phenotype-associated VAR_065863 phenoCommon Familial atrial fibrillation type 9 (ATFB9) [MIM:613980] VAR_065864 commonName VAR_065864 VAR_065864 disease phenotype-associated VAR_065864 phenoCommon Long QT syndrome type 7 (LQT7) [MIM:170390] VAR_065865 commonName VAR_065865 VAR_065865 disease phenotype-associated VAR_065865 phenoCommon Familial atrial fibrillation type 10 (ATFB10) [MIM:614022] VAR_065866 commonName VAR_065866 VAR_065866 disease phenotype-associated VAR_065866 phenoCommon Spermatogenic failure type 8 (SPGF8) [MIM:613957] VAR_065867 commonName VAR_065867 VAR_065867 disease phenotype-associated VAR_065867 phenoCommon Spermatogenic failure type 8 (SPGF8) [MIM:613957] VAR_065868 commonName VAR_065868 VAR_065868 disease phenotype-associated VAR_065868 phenoCommon Spermatogenic failure type 8 (SPGF8) [MIM:613957] VAR_065869 commonName VAR_065869 VAR_065869 disease phenotype-associated VAR_065869 phenoCommon Spermatogenic failure type 8 (SPGF8) [MIM:613957] VAR_065873 commonName VAR_065873 VAR_065873 disease phenotype-associated VAR_065873 phenoCommon Dyskeratosis congenita autosomal recessive type 3 (DKCB3) [MIM:613988] VAR_065874 commonName VAR_065874 VAR_065874 disease phenotype-associated VAR_065874 phenoCommon Dyskeratosis congenita autosomal recessive type 3 (DKCB3) [MIM:613988] VAR_065875 commonName VAR_065875 VAR_065875 disease phenotype-associated VAR_065875 phenoCommon Dyskeratosis congenita autosomal recessive type 3 (DKCB3) [MIM:613988] VAR_065876 commonName VAR_065876 VAR_065876 disease phenotype-associated VAR_065876 phenoCommon Dyskeratosis congenita autosomal recessive type 3 (DKCB3) [MIM:613988] VAR_065877 commonName VAR_065877 VAR_065877 disease not phenotype-associated VAR_065879 commonName VAR_065879 VAR_065879 disease phenotype-associated VAR_065879 phenoCommon Sudden infant death syndrome (SIDS) [MIM:272120] VAR_065880 commonName VAR_065880 VAR_065880 disease phenotype-associated VAR_065880 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_065881 commonName VAR_065881 VAR_065881 disease phenotype-associated VAR_065881 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_065882 commonName VAR_065882 VAR_065882 disease phenotype-associated VAR_065882 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_065883 commonName VAR_065883 VAR_065883 disease phenotype-associated VAR_065883 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_065884 commonName VAR_065884 VAR_065884 disease phenotype-associated VAR_065884 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_065885 commonName VAR_065885 VAR_065885 disease phenotype-associated VAR_065885 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_065886 commonName VAR_065886 VAR_065886 disease phenotype-associated VAR_065886 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_065887 commonName VAR_065887 VAR_065887 disease phenotype-associated VAR_065887 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_065888 commonName VAR_065888 VAR_065888 disease phenotype-associated VAR_065888 phenoCommon Neurofibromatosis type 1 (NF1) [MIM:162200] VAR_065889 commonName VAR_065889 VAR_065889 disease not phenotype-associated VAR_065890 commonName VAR_065890 VAR_065890 disease phenotype-associated VAR_065890 phenoCommon Obesity hyperphagia and developmental delay (OHPDD) [MIM:613886] VAR_065892 commonName VAR_065892 VAR_065892 disease phenotype-associated VAR_065892 phenoCommon Mental retardation X-linked type 19 (MRX19) [MIM:300844] VAR_065894 commonName VAR_065894 VAR_065894 disease phenotype-associated VAR_065894 phenoCommon Coffin-Lowry syndrome (CLS) [MIM:303600] VAR_065896 commonName VAR_065896 VAR_065896 disease phenotype-associated VAR_065896 phenoCommon Coffin-Lowry syndrome (CLS) [MIM:303600] VAR_065897 commonName VAR_065897 VAR_065897 disease phenotype-associated VAR_065897 phenoCommon Mental retardation X-linked type 19 (MRX19) [MIM:300844] VAR_065899 commonName VAR_065899 VAR_065899 disease phenotype-associated VAR_065899 phenoCommon Epilepsy with neurodevelopmental defects (EPND) [MIM:613971] VAR_065900 commonName VAR_065900 VAR_065900 disease phenotype-associated VAR_065900 phenoCommon Mental retardation autosomal dominant type 6 (MRD6) [MIM:613970] VAR_065901 commonName VAR_065901 VAR_065901 disease phenotype-associated VAR_065901 phenoCommon 3MC syndrome type 2 (3MC2) [MIM:265050] VAR_065902 commonName VAR_065902 VAR_065902 disease phenotype-associated VAR_065902 phenoCommon 3MC syndrome type 2 (3MC2) [MIM:265050] VAR_065904 commonName VAR_065904 VAR_065904 disease phenotype-associated VAR_065904 phenoCommon Fibrochondrogenesis type 1 (FBCG1) [MIM:228520] VAR_065905 commonName VAR_065905 VAR_065905 disease phenotype-associated VAR_065905 phenoCommon Fibrochondrogenesis type 1 (FBCG1) [MIM:228520] VAR_065906 commonName VAR_065906 VAR_065906 disease phenotype-associated VAR_065906 phenoCommon D-bifunctional protein deficiency (DBPD) [MIM:261515] VAR_065907 commonName VAR_065907 VAR_065907 disease phenotype-associated VAR_065907 phenoCommon Perrault syndrome (PRS) [MIM:233400] VAR_065908 commonName VAR_065908 VAR_065908 disease phenotype-associated VAR_065908 phenoCommon D-bifunctional protein deficiency (DBPD) [MIM:261515] VAR_065909 commonName VAR_065909 VAR_065909 disease phenotype-associated VAR_065909 phenoCommon D-glyceric aciduria (D-GA) [MIM:220120] VAR_065910 commonName VAR_065910 VAR_065910 disease phenotype-associated VAR_065910 phenoCommon Amyotrophic lateral sclerosis type 14 with or without frontotemporal dementia (ALS14) [MIM:613954] VAR_065911 commonName VAR_065911 VAR_065911 disease phenotype-associated VAR_065911 phenoCommon Amyotrophic lateral sclerosis type 14 with or without frontotemporal dementia (ALS14) [MIM:613954] VAR_065912 commonName VAR_065912 VAR_065913 commonName VAR_065913 VAR_065913 disease not phenotype-associated VAR_065914 commonName VAR_065914 VAR_065915 commonName VAR_065915 VAR_065916 commonName VAR_065916 VAR_065916 disease not phenotype-associated VAR_065917 commonName VAR_065917 VAR_065917 disease not phenotype-associated VAR_065918 commonName VAR_065918 VAR_065918 disease phenotype-associated VAR_065918 phenoCommon Mental retardation autosomal recessive type 14 (MRT14) [MIM:614020] VAR_065919 commonName VAR_065919 VAR_065919 disease not phenotype-associated VAR_065920 commonName VAR_065920 VAR_065920 disease phenotype-associated VAR_065920 phenoCommon Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944] VAR_065921 commonName VAR_065921 VAR_065921 disease phenotype-associated VAR_065921 phenoCommon Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944] VAR_065922 commonName VAR_065922 VAR_065922 disease phenotype-associated VAR_065922 phenoCommon Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944] VAR_065923 commonName VAR_065923 VAR_065923 disease phenotype-associated VAR_065923 phenoCommon Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944] VAR_065924 commonName VAR_065924 VAR_065924 disease phenotype-associated VAR_065924 phenoCommon Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944] VAR_065925 commonName VAR_065925 VAR_065925 disease phenotype-associated VAR_065925 phenoCommon Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944] VAR_065926 commonName VAR_065926 VAR_065926 disease phenotype-associated VAR_065926 phenoCommon Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944] VAR_065927 commonName VAR_065927 VAR_065927 disease phenotype-associated VAR_065927 phenoCommon Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944] VAR_065929 commonName VAR_065929 VAR_065929 disease not phenotype-associated VAR_065930 commonName VAR_065930 VAR_065931 commonName VAR_065931 VAR_065931 disease phenotype-associated VAR_065931 phenoCommon Familial hyperaldosteronism type 3 (FH3) [MIM:613677] VAR_065932 commonName VAR_065932 VAR_065933 commonName VAR_065933 VAR_065933 disease not phenotype-associated VAR_065934 commonName VAR_065934 VAR_065934 disease phenotype-associated VAR_065934 phenoCommon Familial candidiasis type 7 (CANDF7) [MIM:614162] VAR_065935 commonName VAR_065935 VAR_065935 disease phenotype-associated VAR_065935 phenoCommon Familial candidiasis type 7 (CANDF7) [MIM:614162] VAR_065936 commonName VAR_065936 VAR_065936 disease phenotype-associated VAR_065936 phenoCommon Familial candidiasis type 7 (CANDF7) [MIM:614162] VAR_065937 commonName VAR_065937 VAR_065937 disease phenotype-associated VAR_065937 phenoCommon Familial candidiasis type 7 (CANDF7) [MIM:614162] VAR_065938 commonName VAR_065938 VAR_065938 disease phenotype-associated VAR_065938 phenoCommon Familial candidiasis type 7 (CANDF7) [MIM:614162] VAR_065939 commonName VAR_065939 VAR_065939 disease phenotype-associated VAR_065939 phenoCommon Familial candidiasis type 7 (CANDF7) [MIM:614162] VAR_065940 commonName VAR_065940 VAR_065940 disease phenotype-associated VAR_065940 phenoCommon Familial candidiasis type 7 (CANDF7) [MIM:614162] VAR_065941 commonName VAR_065941 VAR_065941 disease phenotype-associated VAR_065941 phenoCommon Familial candidiasis type 7 (CANDF7) [MIM:614162] VAR_065942 commonName VAR_065942 VAR_065942 disease phenotype-associated VAR_065942 phenoCommon Familial candidiasis type 7 (CANDF7) [MIM:614162] VAR_065943 commonName VAR_065943 VAR_065943 disease phenotype-associated VAR_065943 phenoCommon Familial candidiasis type 7 (CANDF7) [MIM:614162] VAR_065944 commonName VAR_065944 VAR_065944 disease phenotype-associated VAR_065944 phenoCommon Familial candidiasis type 7 (CANDF7) [MIM:614162] VAR_065945 commonName VAR_065945 VAR_065945 disease phenotype-associated VAR_065945 phenoCommon Familial candidiasis type 7 (CANDF7) [MIM:614162] VAR_065946 commonName VAR_065946 VAR_065946 disease phenotype-associated VAR_065946 phenoCommon Mental retardation X-linked type 88 (MRX88) [MIM:300852] VAR_065947 commonName VAR_065947 VAR_065947 disease phenotype-associated VAR_065947 phenoCommon Mental retardation X-linked type 88 (MRX88) [MIM:300852] VAR_065948 commonName VAR_065948 VAR_065948 disease phenotype-associated VAR_065948 phenoCommon Mental retardation X-linked type 88 (MRX88) [MIM:300852] VAR_065949 commonName VAR_065949 VAR_065949 disease phenotype-associated VAR_065949 phenoCommon Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 3 (CGD3) [MIM:613960] VAR_065950 commonName VAR_065950 VAR_065950 disease phenotype-associated VAR_065950 phenoCommon Cyanosis transient neonatal (TNCY) [MIM:613977] VAR_065951 commonName VAR_065951 VAR_065951 disease phenotype-associated VAR_065951 phenoCommon Hypotrichosis type 3 (HYPT3) [MIM:613981] VAR_065952 commonName VAR_065952 VAR_065952 disease phenotype-associated VAR_065952 phenoCommon Microphthalmia syndromic type 5 (MCOPS5) [MIM:610125] VAR_065953 commonName VAR_065953 VAR_065953 disease phenotype-associated VAR_065953 phenoCommon Pituitary hormone deficiency combined type 6 (CPHD6) [MIM:613986] VAR_065954 commonName VAR_065954 VAR_065954 disease phenotype-associated VAR_065954 phenoCommon Nestor-Guillermo progeria syndrome (NGPS) [MIM:614008] VAR_065955 commonName VAR_065955 VAR_065955 disease phenotype-associated VAR_065955 phenoCommon Short rib-polydactyly syndrome type 5 (SRPS5) [MIM:614091] VAR_065956 commonName VAR_065956 VAR_065956 disease phenotype-associated VAR_065956 phenoCommon Combined oxidative phosphorylation deficiency type 8 (COXPD8) [MIM:614096] VAR_065957 commonName VAR_065957 VAR_065957 disease phenotype-associated VAR_065957 phenoCommon Combined oxidative phosphorylation deficiency type 8 (COXPD8) [MIM:614096] VAR_065958 commonName VAR_065958 VAR_065958 disease phenotype-associated VAR_065958 phenoCommon Focal segmental glomerulosclerosis type 6 (FSGS6) [MIM:614131] VAR_065959 commonName VAR_065959 VAR_065959 disease not phenotype-associated VAR_065960 commonName VAR_065960 VAR_065960 disease not phenotype-associated VAR_065961 commonName VAR_065961 VAR_065961 disease not phenotype-associated VAR_065962 commonName VAR_065962 VAR_065962 disease not phenotype-associated VAR_065963 commonName VAR_065963 VAR_065963 disease not phenotype-associated VAR_065964 commonName VAR_065964 VAR_065966 commonName VAR_065966 VAR_065966 disease phenotype-associated VAR_065966 phenoCommon Hereditary sensory neuropathy type 1E (HSN1E) [MIM:614116] VAR_065967 commonName VAR_065967 VAR_065967 disease phenotype-associated VAR_065967 phenoCommon Deafness autosomal recessive type 15 (DFNB15) [MIM:601869] VAR_065968 commonName VAR_065968 VAR_065968 disease phenotype-associated VAR_065968 phenoCommon Deafness autosomal recessive type 15 (DFNB15) [MIM:601869] VAR_065969 commonName VAR_065969 VAR_065969 disease phenotype-associated VAR_065969 phenoCommon Deafness autosomal recessive type 15 (DFNB15) [MIM:601869] VAR_065970 commonName VAR_065970 VAR_065970 disease phenotype-associated VAR_065970 phenoCommon Deafness autosomal recessive type 15 (DFNB15) [MIM:601869] VAR_065971 commonName VAR_065971 VAR_065971 disease phenotype-associated VAR_065971 phenoCommon Deafness autosomal recessive type 15 (DFNB15) [MIM:601869] VAR_065972 commonName VAR_065972 VAR_065972 disease phenotype-associated VAR_065972 phenoCommon Deafness autosomal recessive type 15 (DFNB15) [MIM:601869] VAR_065973 commonName VAR_065973 VAR_065973 disease phenotype-associated VAR_065973 phenoCommon Deafness autosomal recessive type 15 (DFNB15) [MIM:601869] VAR_065974 commonName VAR_065974 VAR_065974 disease phenotype-associated VAR_065974 phenoCommon Cataract congenital autosomal recessive type 2 (CATC2) [MIM:610019] VAR_065976 commonName VAR_065976 VAR_065977 commonName VAR_065977 VAR_065978 commonName VAR_065978 VAR_065979 commonName VAR_065979 VAR_065980 commonName VAR_065980 VAR_066012 commonName VAR_066012 VAR_066013 commonName VAR_066013 VAR_066013 disease phenotype-associated VAR_066013 phenoCommon Premature ovarian failure type 5 (POF5) [MIM:611548] VAR_066014 commonName VAR_066014 VAR_066014 disease phenotype-associated VAR_066014 phenoCommon Premature ovarian failure type 5 (POF5) [MIM:611548] VAR_066015 commonName VAR_066015 VAR_066015 disease phenotype-associated VAR_066015 phenoCommon Premature ovarian failure type 5 (POF5) [MIM:611548] VAR_066016 commonName VAR_066016 VAR_066016 disease not phenotype-associated VAR_066019 commonName VAR_066019 VAR_066019 disease phenotype-associated VAR_066019 phenoCommon Kufor-Rakeb syndrome (KRS) [MIM:606693] VAR_066020 commonName VAR_066020 VAR_066020 disease phenotype-associated VAR_066020 phenoCommon Kufor-Rakeb syndrome (KRS) [MIM:606693] VAR_066021 commonName VAR_066021 VAR_066021 disease phenotype-associated VAR_066021 phenoCommon Kufor-Rakeb syndrome (KRS) [MIM:606693] VAR_066023 commonName VAR_066023 VAR_066023 disease phenotype-associated VAR_066023 phenoCommon Birt-Hogg-Dube syndrome (BHD) [MIM:135150] VAR_066024 commonName VAR_066024 VAR_066024 disease phenotype-associated VAR_066024 phenoCommon Primary spontaneous pneumothorax (PSP) [MIM:173600] VAR_066026 commonName VAR_066026 VAR_066026 disease phenotype-associated VAR_066026 phenoCommon Renal cell carcinoma (RCC) [MIM:144700] VAR_066027 commonName VAR_066027 VAR_066028 commonName VAR_066028 VAR_066028 disease phenotype-associated VAR_066028 phenoCommon Primary spontaneous pneumothorax (PSP) [MIM:173600] VAR_066029 commonName VAR_066029 VAR_066029 disease phenotype-associated VAR_066029 phenoCommon Birt-Hogg-Dube syndrome (BHD) [MIM:135150] VAR_066030 commonName VAR_066030 VAR_066030 disease phenotype-associated VAR_066030 phenoCommon Generalized hypotrichosis simplex (HTS) VAR_066031 commonName VAR_066031 VAR_066031 disease not phenotype-associated VAR_066032 commonName VAR_066032 VAR_066032 disease phenotype-associated VAR_066032 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_066033 commonName VAR_066033 VAR_066033 disease phenotype-associated VAR_066033 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_066034 commonName VAR_066034 VAR_066034 disease phenotype-associated VAR_066034 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_066035 commonName VAR_066035 VAR_066035 disease phenotype-associated VAR_066035 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_066036 commonName VAR_066036 VAR_066037 commonName VAR_066037 VAR_066037 disease phenotype-associated VAR_066037 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_066038 commonName VAR_066038 VAR_066038 disease phenotype-associated VAR_066038 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_066041 commonName VAR_066041 VAR_066041 disease phenotype-associated VAR_066041 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_066042 commonName VAR_066042 VAR_066042 disease phenotype-associated VAR_066042 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_066043 commonName VAR_066043 VAR_066044 commonName VAR_066044 VAR_066044 disease phenotype-associated VAR_066044 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_066045 commonName VAR_066045 VAR_066045 disease phenotype-associated VAR_066045 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_066046 commonName VAR_066046 VAR_066046 disease phenotype-associated VAR_066046 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_066047 commonName VAR_066047 VAR_066047 disease phenotype-associated VAR_066047 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_066048 commonName VAR_066048 VAR_066048 disease phenotype-associated VAR_066048 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_066049 commonName VAR_066049 VAR_066049 disease phenotype-associated VAR_066049 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_066051 commonName VAR_066051 VAR_066051 disease not phenotype-associated VAR_066052 commonName VAR_066052 VAR_066052 disease phenotype-associated VAR_066052 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_066053 commonName VAR_066053 VAR_066053 disease not phenotype-associated VAR_066054 commonName VAR_066054 VAR_066055 commonName VAR_066055 HbVar.685 ethnic Black HbVar.685 phenoCommon Hemoglobin variant VAR_066055 disease phenotype-associated VAR_066055 phenoCommon Noonan syndrome type 4 (NS4) [MIM:610733] VAR_066056 commonName VAR_066056 VAR_066056 disease not phenotype-associated VAR_066057 commonName VAR_066057 VAR_066057 disease not phenotype-associated VAR_066058 commonName VAR_066058 VAR_066059 commonName VAR_066059 VAR_066061 commonName VAR_066061 VAR_066061 disease phenotype-associated VAR_066061 phenoCommon Focal dermal hypoplasia (FODH) [MIM:305600] VAR_066062 commonName VAR_066062 VAR_066062 disease phenotype-associated VAR_066062 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700] VAR_066063 commonName VAR_066063 VAR_066063 disease phenotype-associated VAR_066063 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700] VAR_066064 commonName VAR_066064 VAR_066064 disease phenotype-associated VAR_066064 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700] VAR_066065 commonName VAR_066065 VAR_066065 disease phenotype-associated VAR_066065 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700] VAR_066066 commonName VAR_066066 VAR_066066 disease phenotype-associated VAR_066066 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700] VAR_066067 commonName VAR_066067 VAR_066067 disease phenotype-associated VAR_066067 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700] VAR_066069 commonName VAR_066069 VAR_066069 disease phenotype-associated VAR_066069 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700] VAR_066070 commonName VAR_066070 VAR_066070 disease phenotype-associated VAR_066070 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700] VAR_066071 commonName VAR_066071 VAR_066071 disease phenotype-associated VAR_066071 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700] VAR_066072 commonName VAR_066072 VAR_066072 disease phenotype-associated VAR_066072 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700] VAR_066073 commonName VAR_066073 VAR_066073 disease phenotype-associated VAR_066073 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700] VAR_066074 commonName VAR_066074 VAR_066074 disease phenotype-associated VAR_066074 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700] VAR_066075 commonName VAR_066075 VAR_066075 disease phenotype-associated VAR_066075 phenoCommon Diarrhea type 1 (DIAR1) [MIM:214700] VAR_066076 commonName VAR_066076 VAR_066076 disease phenotype-associated VAR_066076 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] VAR_066077 commonName VAR_066077 VAR_066077 disease phenotype-associated VAR_066077 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] VAR_066078 commonName VAR_066078 VAR_066078 disease phenotype-associated VAR_066078 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] VAR_066079 commonName VAR_066079 VAR_066079 disease phenotype-associated VAR_066079 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] VAR_066080 commonName VAR_066080 VAR_066080 disease phenotype-associated VAR_066080 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] VAR_066081 commonName VAR_066081 VAR_066081 disease phenotype-associated VAR_066081 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] VAR_066082 commonName VAR_066082 VAR_066082 disease phenotype-associated VAR_066082 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] VAR_066083 commonName VAR_066083 VAR_066083 disease phenotype-associated VAR_066083 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] VAR_066084 commonName VAR_066084 VAR_066084 disease phenotype-associated VAR_066084 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] VAR_066085 commonName VAR_066085 VAR_066085 disease phenotype-associated VAR_066085 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] VAR_066086 commonName VAR_066086 VAR_066086 disease phenotype-associated VAR_066086 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] VAR_066087 commonName VAR_066087 VAR_066087 disease phenotype-associated VAR_066087 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] VAR_066088 commonName VAR_066088 VAR_066088 disease phenotype-associated VAR_066088 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] VAR_066089 commonName VAR_066089 VAR_066089 disease phenotype-associated VAR_066089 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] VAR_066090 commonName VAR_066090 VAR_066090 disease phenotype-associated VAR_066090 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] VAR_066091 commonName VAR_066091 VAR_066091 disease phenotype-associated VAR_066091 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] VAR_066092 commonName VAR_066092 VAR_066092 disease phenotype-associated VAR_066092 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] VAR_066093 commonName VAR_066093 VAR_066093 disease phenotype-associated VAR_066093 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] VAR_066094 commonName VAR_066094 VAR_066094 disease phenotype-associated VAR_066094 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] VAR_066095 commonName VAR_066095 VAR_066095 disease phenotype-associated VAR_066095 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] VAR_066096 commonName VAR_066096 VAR_066096 disease phenotype-associated VAR_066096 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] VAR_066097 commonName VAR_066097 VAR_066097 disease phenotype-associated VAR_066097 phenoCommon Deafness autosomal dominant type 12 (DFNA12) [MIM:601543] VAR_066099 commonName VAR_066099 VAR_066099 disease phenotype-associated VAR_066099 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_066100 commonName VAR_066100 VAR_066100 disease phenotype-associated VAR_066100 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_066101 commonName VAR_066101 VAR_066101 disease phenotype-associated VAR_066101 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_066102 commonName VAR_066102 VAR_066102 disease phenotype-associated VAR_066102 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_066103 commonName VAR_066103 VAR_066103 disease phenotype-associated VAR_066103 phenoCommon Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] VAR_066104 commonName VAR_066104 VAR_066104 disease phenotype-associated VAR_066104 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066105 commonName VAR_066105 VAR_066105 disease phenotype-associated VAR_066105 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066106 commonName VAR_066106 VAR_066106 disease phenotype-associated VAR_066106 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066107 commonName VAR_066107 VAR_066107 disease phenotype-associated VAR_066107 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066108 commonName VAR_066108 VAR_066108 disease phenotype-associated VAR_066108 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066109 commonName VAR_066109 VAR_066109 disease phenotype-associated VAR_066109 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066110 commonName VAR_066110 VAR_066110 disease phenotype-associated VAR_066110 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066111 commonName VAR_066111 VAR_066111 disease phenotype-associated VAR_066111 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066112 commonName VAR_066112 VAR_066112 disease phenotype-associated VAR_066112 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066113 commonName VAR_066113 VAR_066113 disease phenotype-associated VAR_066113 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066114 commonName VAR_066114 VAR_066114 disease phenotype-associated VAR_066114 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066115 commonName VAR_066115 VAR_066115 disease phenotype-associated VAR_066115 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066116 commonName VAR_066116 VAR_066116 disease phenotype-associated VAR_066116 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066117 commonName VAR_066117 VAR_066117 disease phenotype-associated VAR_066117 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066118 commonName VAR_066118 VAR_066118 disease phenotype-associated VAR_066118 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066119 commonName VAR_066119 VAR_066119 disease phenotype-associated VAR_066119 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066120 commonName VAR_066120 VAR_066120 disease phenotype-associated VAR_066120 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066121 commonName VAR_066121 VAR_066121 disease phenotype-associated VAR_066121 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066122 commonName VAR_066122 VAR_066122 disease phenotype-associated VAR_066122 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066123 commonName VAR_066123 VAR_066123 disease phenotype-associated VAR_066123 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066142 commonName VAR_066142 VAR_066142 disease phenotype-associated VAR_066142 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066143 commonName VAR_066143 VAR_066143 disease phenotype-associated VAR_066143 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066144 commonName VAR_066144 VAR_066144 disease phenotype-associated VAR_066144 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066145 commonName VAR_066145 VAR_066145 disease phenotype-associated VAR_066145 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066146 commonName VAR_066146 VAR_066146 disease phenotype-associated VAR_066146 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066147 commonName VAR_066147 VAR_066147 disease phenotype-associated VAR_066147 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066148 commonName VAR_066148 VAR_066148 disease phenotype-associated VAR_066148 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066149 commonName VAR_066149 VAR_066149 disease phenotype-associated VAR_066149 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066150 commonName VAR_066150 VAR_066150 disease phenotype-associated VAR_066150 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066151 commonName VAR_066151 VAR_066151 disease phenotype-associated VAR_066151 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066152 commonName VAR_066152 VAR_066152 disease phenotype-associated VAR_066152 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066153 commonName VAR_066153 VAR_066153 disease phenotype-associated VAR_066153 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066154 commonName VAR_066154 VAR_066154 disease phenotype-associated VAR_066154 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066155 commonName VAR_066155 VAR_066155 disease phenotype-associated VAR_066155 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066156 commonName VAR_066156 VAR_066156 disease phenotype-associated VAR_066156 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066157 commonName VAR_066157 VAR_066157 disease phenotype-associated VAR_066157 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066158 commonName VAR_066158 VAR_066158 disease phenotype-associated VAR_066158 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066159 commonName VAR_066159 VAR_066159 disease phenotype-associated VAR_066159 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066160 commonName VAR_066160 VAR_066160 disease phenotype-associated VAR_066160 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066161 commonName VAR_066161 VAR_066161 disease phenotype-associated VAR_066161 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066162 commonName VAR_066162 VAR_066162 disease phenotype-associated VAR_066162 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066163 commonName VAR_066163 VAR_066163 disease phenotype-associated VAR_066163 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066171 commonName VAR_066171 VAR_066171 disease phenotype-associated VAR_066171 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066172 commonName VAR_066172 VAR_066172 disease phenotype-associated VAR_066172 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066173 commonName VAR_066173 VAR_066173 disease phenotype-associated VAR_066173 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066174 commonName VAR_066174 VAR_066174 disease phenotype-associated VAR_066174 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066175 commonName VAR_066175 VAR_066175 disease phenotype-associated VAR_066175 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066176 commonName VAR_066176 VAR_066176 disease phenotype-associated VAR_066176 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066177 commonName VAR_066177 VAR_066177 disease phenotype-associated VAR_066177 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066178 commonName VAR_066178 VAR_066178 disease phenotype-associated VAR_066178 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066179 commonName VAR_066179 VAR_066179 disease phenotype-associated VAR_066179 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066180 commonName VAR_066180 VAR_066180 disease phenotype-associated VAR_066180 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066181 commonName VAR_066181 VAR_066181 disease phenotype-associated VAR_066181 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066182 commonName VAR_066182 VAR_066182 disease phenotype-associated VAR_066182 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066183 commonName VAR_066183 VAR_066183 disease phenotype-associated VAR_066183 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066184 commonName VAR_066184 VAR_066184 disease phenotype-associated VAR_066184 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066185 commonName VAR_066185 VAR_066185 disease phenotype-associated VAR_066185 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066186 commonName VAR_066186 VAR_066186 disease phenotype-associated VAR_066186 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066187 commonName VAR_066187 VAR_066187 disease phenotype-associated VAR_066187 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066188 commonName VAR_066188 VAR_066188 disease phenotype-associated VAR_066188 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066189 commonName VAR_066189 VAR_066189 disease phenotype-associated VAR_066189 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066190 commonName VAR_066190 VAR_066190 disease phenotype-associated VAR_066190 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066191 commonName VAR_066191 VAR_066191 disease phenotype-associated VAR_066191 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066192 commonName VAR_066192 VAR_066192 disease phenotype-associated VAR_066192 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066193 commonName VAR_066193 VAR_066193 disease phenotype-associated VAR_066193 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066194 commonName VAR_066194 VAR_066194 disease phenotype-associated VAR_066194 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066195 commonName VAR_066195 VAR_066195 disease phenotype-associated VAR_066195 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066196 commonName VAR_066196 VAR_066196 disease phenotype-associated VAR_066196 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066197 commonName VAR_066197 VAR_066197 disease phenotype-associated VAR_066197 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066198 commonName VAR_066198 VAR_066198 disease phenotype-associated VAR_066198 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066199 commonName VAR_066199 VAR_066199 disease phenotype-associated VAR_066199 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066200 commonName VAR_066200 VAR_066200 disease phenotype-associated VAR_066200 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066201 commonName VAR_066201 VAR_066201 disease phenotype-associated VAR_066201 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066202 commonName VAR_066202 VAR_066202 disease phenotype-associated VAR_066202 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066203 commonName VAR_066203 VAR_066203 disease phenotype-associated VAR_066203 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066204 commonName VAR_066204 VAR_066204 disease phenotype-associated VAR_066204 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066205 commonName VAR_066205 VAR_066205 disease phenotype-associated VAR_066205 phenoCommon Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300] VAR_066206 commonName VAR_066206 VAR_066206 disease phenotype-associated VAR_066206 phenoCommon Cortical dysplasia complex with other brain malformations (CDCBM) [MIM:614039] VAR_066207 commonName VAR_066207 VAR_066207 disease phenotype-associated VAR_066207 phenoCommon Cortical dysplasia complex with other brain malformations (CDCBM) [MIM:614039] VAR_066208 commonName VAR_066208 VAR_066208 disease phenotype-associated VAR_066208 phenoCommon Cortical dysplasia complex with other brain malformations (CDCBM) [MIM:614039] VAR_066210 commonName VAR_066210 VAR_066210 disease phenotype-associated VAR_066210 phenoCommon Familial atrial fibrillation type 12 (ATFB12) [MIM:614050] VAR_066211 commonName VAR_066211 VAR_066211 disease phenotype-associated VAR_066211 phenoCommon Mitochondrial complex V deficiency nuclear type 3 (MC5DN3) [MIM:614053] VAR_066212 commonName VAR_066212 VAR_066212 disease phenotype-associated VAR_066212 phenoCommon Myopathy distal type 4 (MPD4) [MIM:614065] VAR_066213 commonName VAR_066213 VAR_066213 disease phenotype-associated VAR_066213 phenoCommon Myopathy distal type 4 (MPD4) [MIM:614065] VAR_066214 commonName VAR_066214 VAR_066214 disease phenotype-associated VAR_066214 phenoCommon Anhaptoglobinemia (AHP) [MIM:614081] VAR_066215 commonName VAR_066215 VAR_066215 disease phenotype-associated VAR_066215 phenoCommon Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016] VAR_066216 commonName VAR_066216 VAR_066216 disease phenotype-associated VAR_066216 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] VAR_066217 commonName VAR_066217 VAR_066217 disease phenotype-associated VAR_066217 phenoCommon Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014] VAR_066218 commonName VAR_066218 VAR_066218 disease phenotype-associated VAR_066218 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] VAR_066219 commonName VAR_066219 VAR_066219 disease phenotype-associated VAR_066219 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] VAR_066220 commonName VAR_066220 VAR_066220 disease phenotype-associated VAR_066220 phenoCommon Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016] VAR_066221 commonName VAR_066221 VAR_066221 disease phenotype-associated VAR_066221 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] VAR_066222 commonName VAR_066222 VAR_066222 disease phenotype-associated VAR_066222 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] VAR_066222 phenoCommon Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016] VAR_066223 commonName VAR_066223 VAR_066223 disease phenotype-associated VAR_066223 phenoCommon Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016] VAR_066224 commonName VAR_066224 VAR_066224 disease phenotype-associated VAR_066224 phenoCommon Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016] VAR_066225 commonName VAR_066225 VAR_066225 disease phenotype-associated VAR_066225 phenoCommon Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014] VAR_066226 commonName VAR_066226 VAR_066227 commonName VAR_066227 VAR_066227 disease phenotype-associated VAR_066227 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] VAR_066228 commonName VAR_066228 VAR_066228 disease not phenotype-associated VAR_066229 commonName VAR_066229 VAR_066229 disease phenotype-associated VAR_066229 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] VAR_066230 commonName VAR_066230 VAR_066230 disease phenotype-associated VAR_066230 phenoCommon Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015] VAR_066231 commonName VAR_066231 VAR_066231 disease not phenotype-associated VAR_066232 commonName VAR_066232 VAR_066232 disease phenotype-associated VAR_066232 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751] VAR_066233 commonName VAR_066233 VAR_066233 disease phenotype-associated VAR_066233 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751] VAR_066234 commonName VAR_066234 VAR_066234 disease phenotype-associated VAR_066234 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751] VAR_066235 commonName VAR_066235 VAR_066235 disease phenotype-associated VAR_066235 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751] VAR_066236 commonName VAR_066236 VAR_066236 disease phenotype-associated VAR_066236 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751] VAR_066237 commonName VAR_066237 VAR_066237 disease phenotype-associated VAR_066237 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751] VAR_066238 commonName VAR_066238 VAR_066238 disease phenotype-associated VAR_066238 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751] VAR_066239 commonName VAR_066239 VAR_066239 disease phenotype-associated VAR_066239 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751] VAR_066240 commonName VAR_066240 VAR_066240 disease phenotype-associated VAR_066240 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751] VAR_066241 commonName VAR_066241 VAR_066241 disease phenotype-associated VAR_066241 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751] VAR_066242 commonName VAR_066242 VAR_066242 disease not phenotype-associated VAR_066243 commonName VAR_066243 VAR_066243 disease phenotype-associated VAR_066243 phenoCommon Anemia sideroblastic X-linked (XLSA) [MIM:300751] VAR_066244 commonName VAR_066244 VAR_066247 commonName VAR_066247 VAR_066247 disease phenotype-associated VAR_066247 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700] VAR_066249 commonName VAR_066249 VAR_066249 disease phenotype-associated VAR_066249 phenoCommon Familial atrial fibrillation type 11 (ATFB11) [MIM:614049] VAR_066250 commonName VAR_066250 VAR_066250 disease phenotype-associated VAR_066250 phenoCommon Familial atrial fibrillation type 11 (ATFB11) [MIM:614049] VAR_066251 commonName VAR_066251 VAR_066251 disease phenotype-associated VAR_066251 phenoCommon Familial atrial fibrillation type 11 (ATFB11) [MIM:614049] VAR_066252 commonName VAR_066252 VAR_066252 disease phenotype-associated VAR_066252 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] VAR_066253 commonName VAR_066253 VAR_066253 disease not phenotype-associated VAR_066254 commonName VAR_066254 VAR_066254 disease phenotype-associated VAR_066254 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] VAR_066255 commonName VAR_066255 VAR_066255 disease not phenotype-associated VAR_066256 commonName VAR_066256 VAR_066256 disease not phenotype-associated VAR_066257 commonName VAR_066257 VAR_066257 disease phenotype-associated VAR_066257 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] VAR_066258 commonName VAR_066258 VAR_066258 disease phenotype-associated VAR_066258 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] VAR_066259 commonName VAR_066259 VAR_066259 disease phenotype-associated VAR_066259 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] VAR_066260 commonName VAR_066260 VAR_066260 disease phenotype-associated VAR_066260 phenoCommon Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900] VAR_066261 commonName VAR_066261 VAR_066261 disease not phenotype-associated VAR_066262 commonName VAR_066262 VAR_066262 disease phenotype-associated VAR_066262 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] VAR_066263 commonName VAR_066263 VAR_066263 disease phenotype-associated VAR_066263 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] VAR_066264 commonName VAR_066264 VAR_066264 disease phenotype-associated VAR_066264 phenoCommon Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900] VAR_066265 commonName VAR_066265 VAR_066266 commonName VAR_066266 VAR_066266 disease phenotype-associated VAR_066266 phenoCommon Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900] VAR_066267 commonName VAR_066267 VAR_066267 disease not phenotype-associated VAR_066268 commonName VAR_066268 VAR_066268 disease not phenotype-associated VAR_066269 commonName VAR_066269 VAR_066269 disease phenotype-associated VAR_066269 phenoCommon Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900] VAR_066270 commonName VAR_066270 VAR_066270 disease phenotype-associated VAR_066270 phenoCommon Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900] VAR_066271 commonName VAR_066271 VAR_066271 disease phenotype-associated VAR_066271 phenoCommon Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900] VAR_066272 commonName VAR_066272 VAR_066274 commonName VAR_066274 VAR_066275 commonName VAR_066275 VAR_066275 disease phenotype-associated VAR_066275 phenoCommon Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900] VAR_066276 commonName VAR_066276 VAR_066276 disease phenotype-associated VAR_066276 phenoCommon Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900] VAR_066277 commonName VAR_066277 VAR_066277 disease phenotype-associated VAR_066277 phenoCommon Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900] VAR_066278 commonName VAR_066278 VAR_066278 disease phenotype-associated VAR_066278 phenoCommon Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900] VAR_066280 commonName VAR_066280 VAR_066280 disease phenotype-associated VAR_066280 phenoCommon Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900] VAR_066281 commonName VAR_066281 VAR_066281 disease phenotype-associated VAR_066281 phenoCommon Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900] VAR_066282 commonName VAR_066282 VAR_066282 disease phenotype-associated VAR_066282 phenoCommon Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900] VAR_066283 commonName VAR_066283 VAR_066283 disease phenotype-associated VAR_066283 phenoCommon Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900] VAR_066284 commonName VAR_066284 VAR_066284 disease phenotype-associated VAR_066284 phenoCommon Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900] VAR_066285 commonName VAR_066285 VAR_066286 commonName VAR_066286 VAR_066286 disease phenotype-associated VAR_066286 phenoCommon Bardet-Biedl syndrome type 7 (BBS7) [MIM:209900] VAR_066287 commonName VAR_066287 VAR_066290 commonName VAR_066290 VAR_066290 disease phenotype-associated VAR_066290 phenoCommon Bardet-Biedl syndrome type 5 (BBS5) [MIM:209900] VAR_066291 commonName VAR_066291 VAR_066291 disease not phenotype-associated VAR_066295 commonName VAR_066295 VAR_066296 comment A cutaneous metastatic melanoma sample VAR_066296 commonName VAR_066296 VAR_066297 comment A cutaneous metastatic melanoma sample VAR_066297 commonName VAR_066297 VAR_066298 comment A cutaneous metastatic melanoma sample VAR_066298 commonName VAR_066298 VAR_066299 comment A cutaneous metastatic melanoma sample VAR_066299 commonName VAR_066299 VAR_066300 commonName VAR_066300 VAR_066301 comment A cutaneous metastatic melanoma sample VAR_066301 commonName VAR_066301 VAR_066302 comment A cutaneous metastatic melanoma sample VAR_066302 commonName VAR_066302 VAR_066303 comment A cutaneous metastatic melanoma sample VAR_066303 commonName VAR_066303 VAR_066304 comment A cutaneous metastatic melanoma sample VAR_066304 commonName VAR_066304 VAR_066305 comment A cutaneous metastatic melanoma sample VAR_066305 commonName VAR_066305 VAR_066306 commonName VAR_066306 VAR_066307 comment A cutaneous metastatic melanoma sample VAR_066307 commonName VAR_066307 VAR_066308 comment A cutaneous metastatic melanoma sample VAR_066308 commonName VAR_066308 VAR_066309 comment A cutaneous metastatic melanoma sample VAR_066309 commonName VAR_066309 VAR_066310 comment A cutaneous metastatic melanoma sample VAR_066310 commonName VAR_066310 VAR_066312 comment A cutaneous metastatic melanoma sample VAR_066312 commonName VAR_066312 VAR_066313 comment A cutaneous metastatic melanoma sample VAR_066313 commonName VAR_066313 VAR_066314 comment A cutaneous metastatic melanoma sample VAR_066314 commonName VAR_066314 VAR_066315 comment A cutaneous metastatic melanoma sample VAR_066315 commonName VAR_066315 VAR_066316 comment A cutaneous metastatic melanoma sample VAR_066316 commonName VAR_066316 VAR_066317 comment A cutaneous metastatic melanoma sample VAR_066317 commonName VAR_066317 VAR_066318 comment A cutaneous metastatic melanoma sample VAR_066318 commonName VAR_066318 VAR_066322 comment A melanoma cell line VAR_066322 commonName VAR_066322 VAR_066323 comment A cutaneous metastatic melanoma sample VAR_066323 commonName VAR_066323 VAR_066324 comment A cutaneous metastatic melanoma sample VAR_066324 commonName VAR_066324 VAR_066325 comment A cutaneous metastatic melanoma sample VAR_066325 commonName VAR_066325 VAR_066326 comment A cutaneous metastatic melanoma sample VAR_066326 commonName VAR_066326 VAR_066327 comment A cutaneous metastatic melanoma sample VAR_066327 commonName VAR_066327 VAR_066328 comment A cutaneous metastatic melanoma sample VAR_066328 commonName VAR_066328 VAR_066329 comment A cutaneous metastatic melanoma sample VAR_066329 commonName VAR_066329 VAR_066330 comment A cutaneous metastatic melanoma sample VAR_066330 commonName VAR_066330 VAR_066331 comment A cutaneous metastatic melanoma sample VAR_066331 commonName VAR_066331 VAR_066332 comment A cutaneous metastatic melanoma sample VAR_066332 commonName VAR_066332 VAR_066333 comment A cutaneous metastatic melanoma sample VAR_066333 commonName VAR_066333 VAR_066334 comment A cutaneous metastatic melanoma sample VAR_066334 commonName VAR_066334 VAR_066335 comment A cutaneous metastatic melanoma sample VAR_066335 commonName VAR_066335 VAR_066336 comment A cutaneous metastatic melanoma sample VAR_066336 commonName VAR_066336 VAR_066337 comment A cutaneous metastatic melanoma sample VAR_066337 commonName VAR_066337 VAR_066338 commonName VAR_066338 VAR_066338 disease phenotype-associated VAR_066338 phenoCommon Peripheral neuropathy, myopathy, hoarseness, and hearing loss (PNMHH) [MIM:614369] VAR_066339 commonName VAR_066339 VAR_066339 disease not phenotype-associated VAR_066340 commonName VAR_066340 VAR_066340 disease not phenotype-associated VAR_066341 commonName VAR_066341 VAR_066341 disease not phenotype-associated VAR_066342 commonName VAR_066342 VAR_066342 disease not phenotype-associated VAR_066343 commonName VAR_066343 VAR_066343 disease not phenotype-associated VAR_066344 commonName VAR_066344 VAR_066344 disease not phenotype-associated VAR_066345 commonName VAR_066345 VAR_066346 commonName VAR_066346 VAR_066347 commonName VAR_066347 VAR_066347 disease not phenotype-associated VAR_066348 commonName VAR_066348 VAR_066348 disease not phenotype-associated VAR_066349 commonName VAR_066349 VAR_066349 disease not phenotype-associated VAR_066350 commonName VAR_066350 VAR_066350 disease not phenotype-associated VAR_066351 commonName VAR_066351 VAR_066351 disease not phenotype-associated VAR_066352 commonName VAR_066352 VAR_066353 commonName VAR_066353 VAR_066353 disease not phenotype-associated VAR_066354 commonName VAR_066354 VAR_066354 disease not phenotype-associated VAR_066355 commonName VAR_066355 VAR_066355 disease not phenotype-associated VAR_066356 commonName VAR_066356 VAR_066356 disease not phenotype-associated VAR_066357 commonName VAR_066357 VAR_066358 commonName VAR_066358 VAR_066358 disease not phenotype-associated VAR_066359 commonName VAR_066359 VAR_066360 commonName VAR_066360 VAR_066361 commonName VAR_066361 VAR_066361 disease not phenotype-associated VAR_066362 commonName VAR_066362 VAR_066362 disease not phenotype-associated VAR_066363 commonName VAR_066363 VAR_066363 disease not phenotype-associated VAR_066364 commonName VAR_066364 VAR_066364 disease not phenotype-associated VAR_066365 commonName VAR_066365 VAR_066365 disease not phenotype-associated VAR_066366 commonName VAR_066366 VAR_066366 disease not phenotype-associated VAR_066367 commonName VAR_066367 VAR_066367 disease not phenotype-associated VAR_066368 commonName VAR_066368 VAR_066368 disease not phenotype-associated VAR_066369 commonName VAR_066369 VAR_066369 disease not phenotype-associated VAR_066370 commonName VAR_066370 VAR_066370 disease not phenotype-associated VAR_066371 commonName VAR_066371 VAR_066371 disease not phenotype-associated VAR_066372 commonName VAR_066372 VAR_066372 disease not phenotype-associated VAR_066373 commonName VAR_066373 VAR_066373 disease not phenotype-associated VAR_066374 commonName VAR_066374 VAR_066374 disease not phenotype-associated VAR_066375 commonName VAR_066375 VAR_066376 commonName VAR_066376 VAR_066376 disease not phenotype-associated VAR_066377 commonName VAR_066377 VAR_066378 commonName VAR_066378 VAR_066378 disease not phenotype-associated VAR_066379 commonName VAR_066379 VAR_066380 commonName VAR_066380 VAR_066380 disease not phenotype-associated VAR_066381 commonName VAR_066381 VAR_066381 disease not phenotype-associated VAR_066382 commonName VAR_066382 VAR_066382 disease not phenotype-associated VAR_066383 commonName VAR_066383 VAR_066384 commonName VAR_066384 VAR_066384 disease not phenotype-associated VAR_066385 commonName VAR_066385 VAR_066386 commonName VAR_066386 VAR_066389 commonName VAR_066389 VAR_066389 disease phenotype-associated VAR_066389 phenoCommon Myopia type 21 (MYP21) [MIM:614167] VAR_066390 commonName VAR_066390 VAR_066390 disease phenotype-associated VAR_066390 phenoCommon Myopia type 21 (MYP21) [MIM:614167] VAR_066391 commonName VAR_066391 VAR_066391 disease phenotype-associated VAR_066391 phenoCommon Myopia type 21 (MYP21) [MIM:614167] VAR_066392 commonName VAR_066392 VAR_066392 disease phenotype-associated VAR_066392 phenoCommon Myopia type 21 (MYP21) [MIM:614167] VAR_066393 commonName VAR_066393 VAR_066393 disease phenotype-associated VAR_066393 phenoCommon Brittle cornea syndrome type 2 (BCS2) [MIM:614170] VAR_066394 commonName VAR_066394 VAR_066394 disease phenotype-associated VAR_066394 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220] VAR_066395 commonName VAR_066395 VAR_066395 disease phenotype-associated VAR_066395 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220] VAR_066396 commonName VAR_066396 VAR_066396 disease phenotype-associated VAR_066396 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220] VAR_066397 commonName VAR_066397 VAR_066397 disease phenotype-associated VAR_066397 phenoCommon Glycogen storage disease type 1B (GSD1B) [MIM:232220] VAR_066398 commonName VAR_066398 VAR_066398 disease phenotype-associated VAR_066398 phenoCommon Nail disorder non-syndromic congenital type 10 (NDNC10) [MIM:614157] VAR_066399 commonName VAR_066399 VAR_066399 disease phenotype-associated VAR_066399 phenoCommon Nail disorder non-syndromic congenital type 3 (NDNC3) [MIM:151600] VAR_066400 commonName VAR_066400 VAR_066400 disease phenotype-associated VAR_066400 phenoCommon Nail disorder non-syndromic congenital type 3 (NDNC3) [MIM:151600] VAR_066402 commonName VAR_066402 VAR_066402 disease phenotype-associated VAR_066402 phenoCommon Multiple congenital anomalies-hypotonia-seizures syndrome type 1 (MCAHS1) [MIM:614080] VAR_066404 commonName VAR_066404 VAR_066404 disease phenotype-associated VAR_066404 phenoCommon Cortical malformations occipital (OCCM) [MIM:614115] VAR_066405 commonName VAR_066405 VAR_066405 disease phenotype-associated VAR_066405 phenoCommon Dendritic cell monocyte lymphocyte B and natural killer lymphocyte deficiency (DCML) [MIM:614172] VAR_066406 commonName VAR_066406 VAR_066406 disease phenotype-associated VAR_066406 phenoCommon Dendritic cell monocyte lymphocyte B and natural killer lymphocyte deficiency (DCML) [MIM:614172] VAR_066406 phenoCommon Myelodysplastic syndrome (MDS) [MIM:614286] VAR_066407 commonName VAR_066407 VAR_066407 disease phenotype-associated VAR_066407 phenoCommon Dendritic cell monocyte lymphocyte B and natural killer lymphocyte deficiency (DCML) [MIM:614172] VAR_066409 commonName VAR_066409 VAR_066409 disease phenotype-associated VAR_066409 phenoCommon Hypercalcemia infantile (HCAI) [MIM:143880] VAR_066410 commonName VAR_066410 VAR_066410 disease phenotype-associated VAR_066410 phenoCommon Hypercalcemia infantile (HCAI) [MIM:143880] VAR_066411 commonName VAR_066411 VAR_066411 disease phenotype-associated VAR_066411 phenoCommon Hypercalcemia infantile (HCAI) [MIM:143880] VAR_066412 commonName VAR_066412 VAR_066412 disease phenotype-associated VAR_066412 phenoCommon Manitoba oculotrichoanal syndrome (MOTA) [MIM:248450] VAR_066413 commonName VAR_066413 VAR_066413 disease phenotype-associated VAR_066413 phenoCommon Manitoba oculotrichoanal syndrome (MOTA) [MIM:248450] VAR_066414 commonName VAR_066414 VAR_066414 disease phenotype-associated VAR_066414 phenoCommon Agnathia-otocephaly complex (AGOTC) [MIM:202650] VAR_066416 commonName VAR_066416 VAR_066416 disease phenotype-associated VAR_066416 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_066417 commonName VAR_066417 VAR_066417 disease phenotype-associated VAR_066417 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_066418 commonName VAR_066418 VAR_066418 disease phenotype-associated VAR_066418 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_066419 commonName VAR_066419 VAR_066420 commonName VAR_066420 VAR_066420 disease phenotype-associated VAR_066420 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_066421 commonName VAR_066421 VAR_066421 disease phenotype-associated VAR_066421 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_066422 commonName VAR_066422 VAR_066422 disease phenotype-associated VAR_066422 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_066423 commonName VAR_066423 VAR_066423 disease phenotype-associated VAR_066423 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_066424 commonName VAR_066424 VAR_066424 disease phenotype-associated VAR_066424 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_066425 commonName VAR_066425 VAR_066425 disease not phenotype-associated VAR_066426 commonName VAR_066426 VAR_066426 disease phenotype-associated VAR_066426 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_066427 commonName VAR_066427 VAR_066427 disease not phenotype-associated VAR_066428 commonName VAR_066428 VAR_066428 disease phenotype-associated VAR_066428 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_066429 commonName VAR_066429 VAR_066429 disease phenotype-associated VAR_066429 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_066430 commonName VAR_066430 VAR_066430 disease phenotype-associated VAR_066430 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_066431 commonName VAR_066431 VAR_066431 disease phenotype-associated VAR_066431 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_066432 commonName VAR_066432 VAR_066432 disease phenotype-associated VAR_066432 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_066433 commonName VAR_066433 VAR_066433 disease phenotype-associated VAR_066433 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_066434 commonName VAR_066434 VAR_066434 disease phenotype-associated VAR_066434 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_066435 commonName VAR_066435 VAR_066435 disease phenotype-associated VAR_066435 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_066436 commonName VAR_066436 VAR_066436 disease phenotype-associated VAR_066436 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_066437 commonName VAR_066437 VAR_066437 disease phenotype-associated VAR_066437 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_066438 commonName VAR_066438 VAR_066438 disease phenotype-associated VAR_066438 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_066439 commonName VAR_066439 VAR_066440 commonName VAR_066440 VAR_066440 disease phenotype-associated VAR_066440 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_066441 commonName VAR_066441 VAR_066441 disease phenotype-associated VAR_066441 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_066442 commonName VAR_066442 VAR_066442 disease phenotype-associated VAR_066442 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_066443 commonName VAR_066443 VAR_066443 disease phenotype-associated VAR_066443 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_066444 commonName VAR_066444 VAR_066444 disease phenotype-associated VAR_066444 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_066445 commonName VAR_066445 VAR_066446 commonName VAR_066446 VAR_066446 disease phenotype-associated VAR_066446 phenoCommon Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200] VAR_066447 commonName VAR_066447 VAR_066447 disease phenotype-associated VAR_066447 phenoCommon Ellis-van Creveld syndrome (EVC) [MIM:225500] VAR_066448 commonName VAR_066448 VAR_066448 disease phenotype-associated VAR_066448 phenoCommon Ellis-van Creveld syndrome (EVC) [MIM:225500] VAR_066450 commonName VAR_066450 VAR_066450 disease phenotype-associated VAR_066450 phenoCommon Pallister-Hall syndrome (PHS) [MIM:146510] VAR_066451 commonName VAR_066451 VAR_066451 disease phenotype-associated VAR_066451 phenoCommon Bardet-Biedl syndrome (BBS) [MIM:209900] VAR_066452 commonName VAR_066452 VAR_066452 disease phenotype-associated VAR_066452 phenoCommon Acrocallosal syndrome (ACLS) [MIM:200990] VAR_066453 commonName VAR_066453 VAR_066454 commonName VAR_066454 VAR_066454 disease not phenotype-associated VAR_066455 commonName VAR_066455 VAR_066455 disease phenotype-associated VAR_066455 phenoCommon Bardet-Biedl syndrome (BBS) [MIM:209900] VAR_066456 commonName VAR_066456 VAR_066456 disease phenotype-associated VAR_066456 phenoCommon Bardet-Biedl syndrome (BBS) [MIM:209900] VAR_066457 commonName VAR_066457 VAR_066457 disease phenotype-associated VAR_066457 phenoCommon Hydrolethalus syndrome type 2 (HLS2) [MIM:614120] VAR_066459 commonName VAR_066459 VAR_066460 commonName VAR_066460 VAR_066461 commonName VAR_066461 VAR_066462 commonName VAR_066462 VAR_066463 commonName VAR_066463 VAR_066464 commonName VAR_066464 VAR_066465 commonName VAR_066465 VAR_066466 commonName VAR_066466 VAR_066467 commonName VAR_066467 VAR_066476 commonName VAR_066476 VAR_066477 commonName VAR_066477 VAR_066477 disease not phenotype-associated VAR_066478 commonName VAR_066478 VAR_066478 disease not phenotype-associated VAR_066479 commonName VAR_066479 VAR_066479 disease not phenotype-associated VAR_066480 commonName VAR_066480 VAR_066480 disease not phenotype-associated VAR_066481 commonName VAR_066481 VAR_066482 commonName VAR_066482 VAR_066482 disease phenotype-associated VAR_066482 phenoCommon Meckel syndrome type 5 (MKS5) [MIM:611561] VAR_066484 commonName VAR_066484 VAR_066484 disease not phenotype-associated VAR_066485 commonName VAR_066485 VAR_066486 commonName VAR_066486 VAR_066487 commonName VAR_066487 VAR_066487 disease phenotype-associated VAR_066487 phenoCommon Deafness autosomal dominant type 64 (DFNA64) [MIM:614152] VAR_066488 commonName VAR_066488 VAR_066488 disease phenotype-associated VAR_066488 phenoCommon Leber congenital amaurosis type 16 (LCA16) [MIM:614186] VAR_066489 commonName VAR_066489 VAR_066490 commonName VAR_066490 VAR_066490 disease phenotype-associated VAR_066490 phenoCommon Leber congenital amaurosis type 16 (LCA16) [MIM:614186] VAR_066491 commonName VAR_066491 VAR_066492 commonName VAR_066492 VAR_066492 disease phenotype-associated VAR_066492 phenoCommon Nephrotic syndrome type 5 with or without ocular abnormalities (NPHS5) [MIM:614199] VAR_066494 commonName VAR_066494 VAR_066494 disease phenotype-associated VAR_066494 phenoCommon Van der Woude syndrome type 2 (VWS2) [MIM:606713] VAR_066495 commonName VAR_066495 VAR_066495 disease phenotype-associated VAR_066495 phenoCommon Warburg micro syndrome type 3 (WARBM3) [MIM:614222] VAR_066497 commonName VAR_066497 VAR_066497 disease phenotype-associated VAR_066497 phenoCommon Holoprosencephaly type 11 (HPE11) [MIM:614226] VAR_066498 commonName VAR_066498 VAR_066498 disease phenotype-associated VAR_066498 phenoCommon Holoprosencephaly type 11 (HPE11) [MIM:614226] VAR_066499 commonName VAR_066499 VAR_066499 disease phenotype-associated VAR_066499 phenoCommon Holoprosencephaly type 11 (HPE11) [MIM:614226] VAR_066500 commonName VAR_066500 VAR_066500 disease phenotype-associated VAR_066500 phenoCommon Holoprosencephaly type 11 (HPE11) [MIM:614226] VAR_066501 commonName VAR_066501 VAR_066501 disease phenotype-associated VAR_066501 phenoCommon Holoprosencephaly type 11 (HPE11) [MIM:614226] VAR_066502 commonName VAR_066502 VAR_066502 disease phenotype-associated VAR_066502 phenoCommon Holoprosencephaly type 11 (HPE11) [MIM:614226] VAR_066503 commonName VAR_066503 VAR_066503 disease phenotype-associated VAR_066503 phenoCommon Primary pigmented nodular adrenocortical disease type 3 (PPNAD3) [MIM:614190] VAR_066504 commonName VAR_066504 VAR_066504 disease phenotype-associated VAR_066504 phenoCommon Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265] VAR_066505 commonName VAR_066505 VAR_066505 disease phenotype-associated VAR_066505 phenoCommon Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265] VAR_066514 commonName VAR_066514 VAR_066514 disease phenotype-associated VAR_066514 phenoCommon Apparent mineralocorticoid excess (AME) [MIM:218030] VAR_066515 commonName VAR_066515 VAR_066515 disease phenotype-associated VAR_066515 phenoCommon Apparent mineralocorticoid excess (AME) [MIM:218030] VAR_066516 commonName VAR_066516 VAR_066516 disease phenotype-associated VAR_066516 phenoCommon Leukodystrophy hypomyelinating type 7 with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694] VAR_066517 commonName VAR_066517 VAR_066517 disease phenotype-associated VAR_066517 phenoCommon Leukodystrophy hypomyelinating type 7 with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694] VAR_066518 commonName VAR_066518 VAR_066518 disease phenotype-associated VAR_066518 phenoCommon Leukodystrophy hypomyelinating type 7 with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694] VAR_066519 commonName VAR_066519 VAR_066519 disease phenotype-associated VAR_066519 phenoCommon Leukodystrophy hypomyelinating type 7 with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694] VAR_066520 commonName VAR_066520 VAR_066520 disease phenotype-associated VAR_066520 phenoCommon Leukodystrophy hypomyelinating type 7 with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694] VAR_066521 commonName VAR_066521 VAR_066521 disease phenotype-associated VAR_066521 phenoCommon Leukodystrophy hypomyelinating type 7 with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694] VAR_066522 commonName VAR_066522 VAR_066522 disease phenotype-associated VAR_066522 phenoCommon Leukodystrophy hypomyelinating type 7 with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694] VAR_066523 commonName VAR_066523 VAR_066523 disease phenotype-associated VAR_066523 phenoCommon Leukodystrophy hypomyelinating type 7 with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694] VAR_066525 commonName VAR_066525 VAR_066526 commonName VAR_066526 VAR_066543 commonName VAR_066543 VAR_066543 disease phenotype-associated VAR_066543 phenoCommon Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050] VAR_066544 commonName VAR_066544 VAR_066544 disease phenotype-associated VAR_066544 phenoCommon Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050] VAR_066545 commonName VAR_066545 VAR_066545 disease phenotype-associated VAR_066545 phenoCommon Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050] VAR_066546 commonName VAR_066546 VAR_066546 disease phenotype-associated VAR_066546 phenoCommon Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050] VAR_066547 commonName VAR_066547 VAR_066547 disease phenotype-associated VAR_066547 phenoCommon Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050] VAR_066548 commonName VAR_066548 VAR_066548 disease phenotype-associated VAR_066548 phenoCommon Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050] VAR_066549 commonName VAR_066549 VAR_066549 disease phenotype-associated VAR_066549 phenoCommon Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050] VAR_066551 commonName VAR_066551 VAR_066551 disease phenotype-associated VAR_066551 phenoCommon Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050] VAR_066552 commonName VAR_066552 VAR_066552 disease phenotype-associated VAR_066552 phenoCommon Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050] VAR_066553 commonName VAR_066553 VAR_066553 disease phenotype-associated VAR_066553 phenoCommon Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050] VAR_066554 commonName VAR_066554 VAR_066554 disease phenotype-associated VAR_066554 phenoCommon Knobloch syndrome type 2 (KNO2) [MIM:608454] VAR_066555 commonName VAR_066555 VAR_066555 disease phenotype-associated VAR_066555 phenoCommon Neuronal ceroid lipofuscinosis type 4B (CLN4B) [MIM:162350] VAR_066557 commonName VAR_066557 VAR_066557 disease not phenotype-associated VAR_066558 commonName VAR_066558 VAR_066558 disease not phenotype-associated VAR_066559 commonName VAR_066559 VAR_066559 disease not phenotype-associated VAR_066560 commonName VAR_066560 VAR_066560 disease not phenotype-associated VAR_066561 commonName VAR_066561 VAR_066561 disease not phenotype-associated VAR_066562 commonName VAR_066562 VAR_066562 disease phenotype-associated VAR_066562 phenoCommon Amyotrophic lateral sclerosis type 15 with or without frontotemporal dementia (ALS15) [MIM:300857] VAR_066563 commonName VAR_066563 VAR_066563 disease phenotype-associated VAR_066563 phenoCommon Amyotrophic lateral sclerosis type 15 with or without frontotemporal dementia (ALS15) [MIM:300857] VAR_066564 commonName VAR_066564 VAR_066564 disease phenotype-associated VAR_066564 phenoCommon Amyotrophic lateral sclerosis type 15 with or without frontotemporal dementia (ALS15) [MIM:300857] VAR_066565 commonName VAR_066565 VAR_066565 disease phenotype-associated VAR_066565 phenoCommon Amyotrophic lateral sclerosis type 15 with or without frontotemporal dementia (ALS15) [MIM:300857] VAR_066566 commonName VAR_066566 VAR_066566 disease phenotype-associated VAR_066566 phenoCommon Amyotrophic lateral sclerosis type 15 with or without frontotemporal dementia (ALS15) [MIM:300857] VAR_066567 commonName VAR_066567 VAR_066568 commonName VAR_066568 VAR_066569 commonName VAR_066569 VAR_066569 disease phenotype-associated VAR_066569 phenoCommon Microcephaly epilepsy and diabetes syndrome (MEDS) [MIM:614231] VAR_066570 commonName VAR_066570 VAR_066570 disease phenotype-associated VAR_066570 phenoCommon Microcephaly epilepsy and diabetes syndrome (MEDS) [MIM:614231] VAR_066571 commonName VAR_066571 VAR_066571 disease not phenotype-associated VAR_066573 commonName VAR_066573 VAR_066573 disease phenotype-associated VAR_066573 phenoCommon Parkinson disease type 18 (PARK18) [MIM:614251] VAR_066574 commonName VAR_066574 VAR_066574 disease not phenotype-associated VAR_066575 commonName VAR_066575 VAR_066575 disease not phenotype-associated VAR_066581 commonName VAR_066581 VAR_066582 commonName VAR_066582 VAR_066582 disease not phenotype-associated VAR_066583 commonName VAR_066583 VAR_066583 disease not phenotype-associated VAR_066584 commonName VAR_066584 VAR_066584 disease not phenotype-associated VAR_066585 commonName VAR_066585 VAR_066586 commonName VAR_066586 VAR_066587 commonName VAR_066587 VAR_066587 disease not phenotype-associated VAR_066588 commonName VAR_066588 VAR_066589 commonName VAR_066589 VAR_066590 commonName VAR_066590 VAR_066590 disease phenotype-associated VAR_066590 phenoCommon Bleeding disorder platelet-type 11 (BDPLT11) [MIM:614201] VAR_066591 commonName VAR_066591 VAR_066591 disease phenotype-associated VAR_066591 phenoCommon Bleeding disorder platelet-type 11 (BDPLT11) [MIM:614201] VAR_066592 commonName VAR_066592 VAR_066592 disease phenotype-associated VAR_066592 phenoCommon Mental retardation autosomal recessive type 15 (MRT15) [MIM:614202] VAR_066594 commonName VAR_066594 VAR_066594 disease phenotype-associated VAR_066594 phenoCommon Mental retardation autosomal recessive type 12 (MRT12) [MIM:611090] VAR_066596 commonName VAR_066596 VAR_066596 disease phenotype-associated VAR_066596 phenoCommon Mental retardation autosomal recessive type 18 (MRT18) [MIM:614249] VAR_066598 commonName VAR_066598 VAR_066598 disease phenotype-associated VAR_066598 phenoCommon Mental retardation autosomal dominant type 8 (MRD8) [MIM:614254] VAR_066599 commonName VAR_066599 VAR_066599 disease phenotype-associated VAR_066599 phenoCommon Mental retardation autosomal dominant type 10 (MRD10) [MIM:614256] VAR_066600 commonName VAR_066600 VAR_066600 disease phenotype-associated VAR_066600 phenoCommon Mental retardation autosomal dominant type 11 (MRD11) [MIM:614257] VAR_066601 commonName VAR_066601 VAR_066601 disease not phenotype-associated VAR_066602 commonName VAR_066602 VAR_066602 disease not phenotype-associated VAR_066603 commonName VAR_066603 VAR_066603 disease not phenotype-associated VAR_066604 commonName VAR_066604 VAR_066604 disease phenotype-associated VAR_066604 phenoCommon Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931] VAR_066605 commonName VAR_066605 VAR_066605 disease phenotype-associated VAR_066605 phenoCommon Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931] VAR_066612 commonName VAR_066612 VAR_066612 disease not phenotype-associated VAR_066613 commonName VAR_066613 VAR_066613 disease not phenotype-associated VAR_066614 commonName VAR_066614 VAR_066614 disease phenotype-associated VAR_066614 phenoCommon Sick sinus syndrome type 2 (SSS2) [MIM:163800] VAR_066615 commonName VAR_066615 VAR_066615 disease not phenotype-associated VAR_066616 commonName VAR_066616 VAR_066616 disease phenotype-associated VAR_066616 phenoCommon Spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187] VAR_066617 commonName VAR_066617 VAR_066617 disease phenotype-associated VAR_066617 phenoCommon Neurodegeneration with brain iron accumulation type 4 (NBIA4) [MIM:614298] VAR_066618 commonName VAR_066618 VAR_066618 disease phenotype-associated VAR_066618 phenoCommon Neurodegeneration with brain iron accumulation type 4 (NBIA4) [MIM:614298] VAR_066619 commonName VAR_066619 VAR_066619 disease phenotype-associated VAR_066619 phenoCommon Neurodegeneration with brain iron accumulation type 4 (NBIA4) [MIM:614298] VAR_066620 commonName VAR_066620 VAR_066620 disease phenotype-associated VAR_066620 phenoCommon Neurodegeneration with brain iron accumulation type 4 (NBIA4) [MIM:614298] VAR_066623 commonName VAR_066623 VAR_066623 disease phenotype-associated VAR_066623 phenoCommon Robinow syndrome autosomal dominant (DRS) [MIM:180700] VAR_066624 commonName VAR_066624 VAR_066624 disease phenotype-associated VAR_066624 phenoCommon Multiple joint dislocations short stature craniofacial dysmorphism and congenital heart defects (JDSSDHD) [MIM:245600] VAR_066625 commonName VAR_066625 VAR_066625 disease not phenotype-associated VAR_066627 commonName VAR_066627 VAR_066627 disease phenotype-associated VAR_066627 phenoCommon Mental retardation syndromic X-linked Nascimento-type (MRXSN) [MIM:300860] VAR_066628 commonName VAR_066628 VAR_066628 disease phenotype-associated VAR_066628 phenoCommon Mental retardation syndromic X-linked Nascimento-type (MRXSN) [MIM:300860] VAR_066629 commonName VAR_066629 VAR_066629 disease phenotype-associated VAR_066629 phenoCommon Robinow syndrome autosomal dominant (DRS) [MIM:180700] VAR_066630 commonName VAR_066630 VAR_066630 disease phenotype-associated VAR_066630 phenoCommon Sclerosteosis type 2 (SOST2) [MIM:614305] VAR_066631 commonName VAR_066631 VAR_066631 disease phenotype-associated VAR_066631 phenoCommon Sclerosteosis type 2 (SOST2) [MIM:614305] VAR_066632 commonName VAR_066632 VAR_066632 disease phenotype-associated VAR_066632 phenoCommon 46,XY sex reversal type 8 (SRXY8) [MIM:614279] VAR_066633 commonName VAR_066633 VAR_066633 disease phenotype-associated VAR_066633 phenoCommon 46,XY sex reversal type 8 (SRXY8) [MIM:614279] VAR_066634 commonName VAR_066634 VAR_066634 disease phenotype-associated VAR_066634 phenoCommon 46,XY sex reversal type 8 (SRXY8) [MIM:614279] VAR_066635 commonName VAR_066635 VAR_066635 disease phenotype-associated VAR_066635 phenoCommon 46,XY sex reversal type 8 (SRXY8) [MIM:614279] VAR_066637 commonName VAR_066637 VAR_066637 disease phenotype-associated VAR_066637 phenoCommon Myopia high with cataract and vitreoretinal degeneration (MCVD) [MIM:614292] VAR_066638 commonName VAR_066638 VAR_066638 disease not phenotype-associated VAR_066639 commonName VAR_066639 VAR_066639 disease phenotype-associated VAR_066639 phenoCommon Multiple mitochondrial dysfunctions syndrome type 1 (MMDS1) [MIM:605711] VAR_066640 commonName VAR_066640 VAR_066640 disease phenotype-associated VAR_066640 phenoCommon Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300] VAR_066641 commonName VAR_066641 VAR_066641 disease phenotype-associated VAR_066641 phenoCommon Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300] VAR_066642 commonName VAR_066642 VAR_066642 disease phenotype-associated VAR_066642 phenoCommon Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300] VAR_066644 commonName VAR_066644 VAR_066644 disease phenotype-associated VAR_066644 phenoCommon Lymphedema primary with myelodysplasia (LMPM) [MIM:614038] VAR_066645 commonName VAR_066645 VAR_066645 disease phenotype-associated VAR_066645 phenoCommon Lymphedema primary with myelodysplasia (LMPM) [MIM:614038] VAR_066646 commonName VAR_066646 VAR_066646 disease phenotype-associated VAR_066646 phenoCommon Psoriasis generalized pustular (PSORP) [MIM:614204] VAR_066647 commonName VAR_066647 VAR_066647 disease phenotype-associated VAR_066647 phenoCommon Psoriasis generalized pustular (PSORP) [MIM:614204] VAR_066648 commonName VAR_066648 VAR_066648 disease phenotype-associated VAR_066648 phenoCommon Psoriasis generalized pustular (PSORP) [MIM:614204] VAR_066649 commonName VAR_066649 VAR_066649 disease phenotype-associated VAR_066649 phenoCommon Mental retardation autosomal dominant type 9 (MRD9) [MIM:614255] VAR_066650 commonName VAR_066650 VAR_066650 disease phenotype-associated VAR_066650 phenoCommon Spastic paraplegia autosomal recessive type 30 (SPG30) [MIM:610357] VAR_066651 commonName VAR_066651 VAR_066651 disease phenotype-associated VAR_066651 phenoCommon Charcot-Marie-Tooth disease type 2O (CMT2O) [MIM:614228] VAR_066652 commonName VAR_066652 VAR_066652 disease phenotype-associated VAR_066652 phenoCommon N-terminal acetyltransferase deficiency (NATD) [MIM:300855] VAR_066653 commonName VAR_066653 VAR_066653 disease not phenotype-associated VAR_066654 commonName VAR_066654 VAR_066654 disease not phenotype-associated VAR_066655 commonName VAR_066655 VAR_066655 disease not phenotype-associated VAR_066656 commonName VAR_066656 VAR_066657 commonName VAR_066657 VAR_066662 commonName VAR_066662 VAR_066662 disease not phenotype-associated VAR_066663 commonName VAR_066663 VAR_066663 disease not phenotype-associated VAR_066664 commonName VAR_066664 VAR_066664 disease phenotype-associated VAR_066664 phenoCommon Spinocerebellar ataxia autosomal recessive type 11 (SCAR11) [MIM:614229] VAR_066665 commonName VAR_066665 VAR_066666 commonName VAR_066666 VAR_066666 disease phenotype-associated VAR_066666 phenoCommon Craniosynostosis and dental anomalies (CRSDA) [MIM:614188] VAR_066667 commonName VAR_066667 VAR_066667 disease phenotype-associated VAR_066667 phenoCommon Craniosynostosis and dental anomalies (CRSDA) [MIM:614188] VAR_066668 commonName VAR_066668 VAR_066668 disease phenotype-associated VAR_066668 phenoCommon Craniosynostosis and dental anomalies (CRSDA) [MIM:614188] VAR_066670 commonName VAR_066670 VAR_066670 disease phenotype-associated VAR_066670 phenoCommon Keratoconus type 1 (KTCN1) [MIM:148300] VAR_066671 commonName VAR_066671 VAR_066671 disease not phenotype-associated VAR_066672 commonName VAR_066672 VAR_066672 disease phenotype-associated VAR_066672 phenoCommon Craniofacial anomalies and anterior segment dysgenesis syndrome (CAASDS) [MIM:614195] VAR_066673 commonName VAR_066673 VAR_066673 disease phenotype-associated VAR_066673 phenoCommon Retinitis pigmentosa type 61 (RP61) [MIM:614180] VAR_066674 commonName VAR_066674 VAR_066674 disease phenotype-associated VAR_066674 phenoCommon Retinitis pigmentosa type 61 (RP61) [MIM:614180] VAR_066677 commonName VAR_066677 VAR_066677 disease phenotype-associated VAR_066677 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_066678 commonName VAR_066678 VAR_066678 disease phenotype-associated VAR_066678 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_066679 commonName VAR_066679 VAR_066679 disease phenotype-associated VAR_066679 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_066680 commonName VAR_066680 VAR_066680 disease phenotype-associated VAR_066680 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_066681 commonName VAR_066681 VAR_066681 disease phenotype-associated VAR_066681 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_066682 commonName VAR_066682 VAR_066682 disease phenotype-associated VAR_066682 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_066683 commonName VAR_066683 VAR_066683 disease phenotype-associated VAR_066683 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_066684 commonName VAR_066684 VAR_066684 disease phenotype-associated VAR_066684 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_066685 commonName VAR_066685 VAR_066685 disease phenotype-associated VAR_066685 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_066686 commonName VAR_066686 VAR_066686 disease phenotype-associated VAR_066686 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_066687 commonName VAR_066687 VAR_066687 disease phenotype-associated VAR_066687 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_066688 commonName VAR_066688 VAR_066688 disease phenotype-associated VAR_066688 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_066689 commonName VAR_066689 VAR_066689 disease phenotype-associated VAR_066689 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_066690 commonName VAR_066690 VAR_066690 disease phenotype-associated VAR_066690 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_066691 commonName VAR_066691 VAR_066691 disease phenotype-associated VAR_066691 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_066692 commonName VAR_066692 VAR_066692 disease phenotype-associated VAR_066692 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_066694 commonName VAR_066694 VAR_066694 disease phenotype-associated VAR_066694 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_066695 commonName VAR_066695 VAR_066695 disease phenotype-associated VAR_066695 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_066696 commonName VAR_066696 VAR_066696 disease phenotype-associated VAR_066696 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_066697 commonName VAR_066697 VAR_066697 disease phenotype-associated VAR_066697 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_066698 commonName VAR_066698 VAR_066698 disease phenotype-associated VAR_066698 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_066699 commonName VAR_066699 VAR_066699 disease phenotype-associated VAR_066699 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_066700 commonName VAR_066700 VAR_066700 disease phenotype-associated VAR_066700 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_066701 commonName VAR_066701 VAR_066701 disease phenotype-associated VAR_066701 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_066702 commonName VAR_066702 VAR_066702 disease phenotype-associated VAR_066702 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_066703 commonName VAR_066703 VAR_066703 disease phenotype-associated VAR_066703 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_066704 commonName VAR_066704 VAR_066704 disease phenotype-associated VAR_066704 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_066705 commonName VAR_066705 VAR_066705 disease phenotype-associated VAR_066705 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_066706 commonName VAR_066706 VAR_066706 disease phenotype-associated VAR_066706 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_066707 commonName VAR_066707 VAR_066707 disease phenotype-associated VAR_066707 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_066708 commonName VAR_066708 VAR_066708 disease phenotype-associated VAR_066708 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_066709 commonName VAR_066709 VAR_066709 disease phenotype-associated VAR_066709 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_066710 commonName VAR_066710 VAR_066710 disease phenotype-associated VAR_066710 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219] VAR_066711 commonName VAR_066711 VAR_066711 disease phenotype-associated VAR_066711 phenoCommon Cataract zonular pulverulent cataract type 3 (CZP3) [MIM:601885] VAR_066712 commonName VAR_066712 VAR_066712 disease phenotype-associated VAR_066712 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219] VAR_066713 commonName VAR_066713 VAR_066713 disease phenotype-associated VAR_066713 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219] VAR_066714 commonName VAR_066714 VAR_066714 disease phenotype-associated VAR_066714 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219] VAR_066715 commonName VAR_066715 VAR_066715 disease phenotype-associated VAR_066715 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219] VAR_066716 commonName VAR_066716 VAR_066716 disease phenotype-associated VAR_066716 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219] VAR_066717 commonName VAR_066717 VAR_066717 disease phenotype-associated VAR_066717 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219] VAR_066718 commonName VAR_066718 VAR_066718 disease phenotype-associated VAR_066718 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219] VAR_066719 commonName VAR_066719 VAR_066719 disease phenotype-associated VAR_066719 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219] VAR_066720 commonName VAR_066720 VAR_066720 disease phenotype-associated VAR_066720 phenoCommon Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192] VAR_066721 commonName VAR_066721 VAR_066721 disease phenotype-associated VAR_066721 phenoCommon Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192] VAR_066722 commonName VAR_066722 VAR_066722 disease phenotype-associated VAR_066722 phenoCommon Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192] VAR_066732 commonName VAR_066732 VAR_066732 disease phenotype-associated VAR_066732 phenoCommon Dystonia type 11 (DYT11) [MIM:159900] VAR_066733 commonName VAR_066733 VAR_066733 disease phenotype-associated VAR_066733 phenoCommon Dystonia type 11 (DYT11) [MIM:159900] VAR_066734 commonName VAR_066734 VAR_066734 disease phenotype-associated VAR_066734 phenoCommon Dystonia type 11 (DYT11) [MIM:159900] VAR_066735 commonName VAR_066735 VAR_066735 disease phenotype-associated VAR_066735 phenoCommon Dystonia type 11 (DYT11) [MIM:159900] VAR_066736 commonName VAR_066736 VAR_066736 disease phenotype-associated VAR_066736 phenoCommon Dystonia type 11 (DYT11) [MIM:159900] VAR_066737 commonName VAR_066737 VAR_066737 disease phenotype-associated VAR_066737 phenoCommon Dystonia type 11 (DYT11) [MIM:159900] VAR_066738 commonName VAR_066738 VAR_066738 disease phenotype-associated VAR_066738 phenoCommon Dystonia type 11 (DYT11) [MIM:159900] VAR_066739 commonName VAR_066739 VAR_066739 disease phenotype-associated VAR_066739 phenoCommon Dystonia type 11 (DYT11) [MIM:159900] VAR_066740 commonName VAR_066740 VAR_066740 disease phenotype-associated VAR_066740 phenoCommon Dystonia type 11 (DYT11) [MIM:159900] VAR_066741 commonName VAR_066741 VAR_066741 disease phenotype-associated VAR_066741 phenoCommon Dystonia type 11 (DYT11) [MIM:159900] VAR_066742 commonName VAR_066742 VAR_066742 disease phenotype-associated VAR_066742 phenoCommon Dystonia type 11 (DYT11) [MIM:159900] VAR_066743 commonName VAR_066743 VAR_066743 disease phenotype-associated VAR_066743 phenoCommon Dystonia type 11 (DYT11) [MIM:159900] VAR_066744 commonName VAR_066744 VAR_066744 disease phenotype-associated VAR_066744 phenoCommon Progressive myoclonic epilepsy type 4 with or without renal failure (EPM4) [MIM:254900] VAR_066745 commonName VAR_066745 VAR_066747 commonName VAR_066747 VAR_066747 disease phenotype-associated VAR_066747 phenoCommon Waardenburg syndrome type 4C (WS4C) [MIM:613266] VAR_066748 commonName VAR_066748 VAR_066748 disease phenotype-associated VAR_066748 phenoCommon Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH) [MIM:609136] VAR_066748 phenoCommon Waardenburg syndrome type 2E (WS2E) [MIM:611584] VAR_066749 commonName VAR_066749 VAR_066749 disease phenotype-associated VAR_066749 phenoCommon Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH) [MIM:609136] VAR_066750 commonName VAR_066750 VAR_066750 disease phenotype-associated VAR_066750 phenoCommon Waardenburg syndrome type 4C (WS4C) [MIM:613266] VAR_066751 commonName VAR_066751 VAR_066751 disease phenotype-associated VAR_066751 phenoCommon Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH) [MIM:609136] VAR_066752 commonName VAR_066752 VAR_066752 disease phenotype-associated VAR_066752 phenoCommon Waardenburg syndrome type 4C (WS4C) [MIM:613266] VAR_066753 commonName VAR_066753 VAR_066753 disease phenotype-associated VAR_066753 phenoCommon Waardenburg syndrome type 2E (WS2E) [MIM:611584] VAR_066754 commonName VAR_066754 VAR_066754 disease phenotype-associated VAR_066754 phenoCommon Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH) [MIM:609136] VAR_066755 commonName VAR_066755 VAR_066755 disease phenotype-associated VAR_066755 phenoCommon Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH) [MIM:609136] VAR_066756 commonName VAR_066756 VAR_066756 disease phenotype-associated VAR_066756 phenoCommon Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH) [MIM:609136] VAR_066757 commonName VAR_066757 VAR_066757 disease phenotype-associated VAR_066757 phenoCommon Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH) [MIM:609136] VAR_066758 commonName VAR_066758 VAR_066758 disease phenotype-associated VAR_066758 phenoCommon Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH) [MIM:609136] VAR_066759 commonName VAR_066759 VAR_066759 disease not phenotype-associated VAR_066760 commonName VAR_066760 VAR_066760 disease phenotype-associated VAR_066760 phenoCommon Renal dysplasia, cystic (CYSRD) [MIM:601331] VAR_066761 commonName VAR_066761 VAR_066761 disease not phenotype-associated VAR_066762 commonName VAR_066762 VAR_066762 disease not phenotype-associated VAR_066763 commonName VAR_066763 VAR_066763 disease phenotype-associated VAR_066763 phenoCommon Progressive familial heart block type 1B (PFHB1B) [MIM:604559] VAR_066764 commonName VAR_066764 VAR_066764 disease phenotype-associated VAR_066764 phenoCommon Progressive familial heart block type 1B (PFHB1B) [MIM:604559] VAR_066765 commonName VAR_066765 VAR_066765 disease not phenotype-associated VAR_066766 commonName VAR_066766 VAR_066766 disease phenotype-associated VAR_066766 phenoCommon Progressive familial heart block type 1B (PFHB1B) [MIM:604559] VAR_066767 commonName VAR_066767 VAR_066767 disease phenotype-associated VAR_066767 phenoCommon Progressive familial heart block type 1B (PFHB1B) [MIM:604559] VAR_066769 commonName VAR_066769 VAR_066769 disease not phenotype-associated VAR_066770 commonName VAR_066770 VAR_066770 disease phenotype-associated VAR_066770 phenoCommon Progressive familial heart block type 1B (PFHB1B) [MIM:604559] VAR_066771 commonName VAR_066771 VAR_066771 disease phenotype-associated VAR_066771 phenoCommon Progressive familial heart block type 1B (PFHB1B) [MIM:604559] VAR_066772 commonName VAR_066772 VAR_066772 disease phenotype-associated VAR_066772 phenoCommon Progressive familial heart block type 1B (PFHB1B) [MIM:604559] VAR_066773 commonName VAR_066773 VAR_066773 disease not phenotype-associated VAR_066774 commonName VAR_066774 VAR_066774 disease phenotype-associated VAR_066774 phenoCommon Progressive familial heart block type 1B (PFHB1B) [MIM:604559] VAR_066775 commonName VAR_066775 VAR_066775 disease phenotype-associated VAR_066775 phenoCommon Progressive familial heart block type 1B (PFHB1B) [MIM:604559] VAR_066777 commonName VAR_066777 VAR_066777 disease not phenotype-associated VAR_066778 commonName VAR_066778 VAR_066778 disease not phenotype-associated VAR_066779 commonName VAR_066779 VAR_066779 disease not phenotype-associated VAR_066780 commonName VAR_066780 VAR_066780 disease not phenotype-associated VAR_066781 commonName VAR_066781 VAR_066781 disease phenotype-associated VAR_066781 phenoCommon Cardiomyopathy dilated type 1HH (CMD1HH) [MIM:613881] VAR_066782 commonName VAR_066782 VAR_066782 disease not phenotype-associated VAR_066783 commonName VAR_066783 VAR_066783 disease not phenotype-associated VAR_066784 commonName VAR_066784 VAR_066784 disease not phenotype-associated VAR_066785 commonName VAR_066785 VAR_066785 disease phenotype-associated VAR_066785 phenoCommon Cardiomyopathy dilated type 1HH (CMD1HH) [MIM:613881] VAR_066786 commonName VAR_066786 VAR_066786 disease phenotype-associated VAR_066786 phenoCommon Cardiomyopathy dilated type 1HH (CMD1HH) [MIM:613881] VAR_066787 commonName VAR_066787 VAR_066787 disease phenotype-associated VAR_066787 phenoCommon Cardiomyopathy dilated type 1HH (CMD1HH) [MIM:613881] VAR_066788 commonName VAR_066788 VAR_066788 disease not phenotype-associated VAR_066789 commonName VAR_066789 VAR_066789 disease phenotype-associated VAR_066789 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] VAR_066790 commonName VAR_066790 VAR_066790 disease phenotype-associated VAR_066790 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170] VAR_066791 commonName VAR_066791 VAR_066791 disease phenotype-associated VAR_066791 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170] VAR_066792 commonName VAR_066792 VAR_066792 disease phenotype-associated VAR_066792 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] VAR_066793 commonName VAR_066793 VAR_066793 disease phenotype-associated VAR_066793 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] VAR_066794 commonName VAR_066794 VAR_066794 disease phenotype-associated VAR_066794 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] VAR_066795 commonName VAR_066795 VAR_066795 disease phenotype-associated VAR_066795 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] VAR_066796 commonName VAR_066796 VAR_066796 disease phenotype-associated VAR_066796 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170] VAR_066798 commonName VAR_066798 VAR_066798 disease phenotype-associated VAR_066798 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] VAR_066800 commonName VAR_066800 VAR_066800 disease phenotype-associated VAR_066800 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] VAR_066801 commonName VAR_066801 VAR_066801 disease phenotype-associated VAR_066801 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] VAR_066802 commonName VAR_066802 VAR_066802 disease phenotype-associated VAR_066802 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] VAR_066803 commonName VAR_066803 VAR_066803 disease phenotype-associated VAR_066803 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170] VAR_066804 commonName VAR_066804 VAR_066804 disease phenotype-associated VAR_066804 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] VAR_066805 commonName VAR_066805 VAR_066805 disease phenotype-associated VAR_066805 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] VAR_066807 commonName VAR_066807 VAR_066807 disease phenotype-associated VAR_066807 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170] VAR_066808 commonName VAR_066808 VAR_066808 disease phenotype-associated VAR_066808 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] VAR_066810 commonName VAR_066810 VAR_066810 disease phenotype-associated VAR_066810 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] VAR_066811 commonName VAR_066811 VAR_066811 disease phenotype-associated VAR_066811 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] VAR_066812 commonName VAR_066812 VAR_066812 disease phenotype-associated VAR_066812 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] VAR_066813 commonName VAR_066813 VAR_066813 disease phenotype-associated VAR_066813 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] VAR_066815 commonName VAR_066815 VAR_066815 disease phenotype-associated VAR_066815 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170] VAR_066816 commonName VAR_066816 VAR_066816 disease phenotype-associated VAR_066816 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170] VAR_066819 commonName VAR_066819 VAR_066819 disease phenotype-associated VAR_066819 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170] VAR_066820 commonName VAR_066820 VAR_066820 disease phenotype-associated VAR_066820 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170] VAR_066821 commonName VAR_066821 VAR_066821 disease phenotype-associated VAR_066821 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] VAR_066822 commonName VAR_066822 VAR_066822 disease phenotype-associated VAR_066822 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170] VAR_066823 commonName VAR_066823 VAR_066823 disease phenotype-associated VAR_066823 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170] VAR_066824 commonName VAR_066824 VAR_066824 disease phenotype-associated VAR_066824 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170] VAR_066825 commonName VAR_066825 VAR_066825 disease phenotype-associated VAR_066825 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170] VAR_066826 commonName VAR_066826 VAR_066826 disease phenotype-associated VAR_066826 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] VAR_066827 commonName VAR_066827 VAR_066827 disease phenotype-associated VAR_066827 phenoCommon Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400] VAR_066828 commonName VAR_066828 VAR_066828 disease phenotype-associated VAR_066828 phenoCommon Pseudoachondroplasia (PSACH) [MIM:177170] VAR_066831 commonName VAR_066831 VAR_066831 disease phenotype-associated VAR_066831 phenoCommon Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078] VAR_066832 commonName VAR_066832 VAR_066832 disease phenotype-associated VAR_066832 phenoCommon Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078] VAR_066833 commonName VAR_066833 VAR_066833 disease phenotype-associated VAR_066833 phenoCommon Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078] VAR_066834 commonName VAR_066834 VAR_066834 disease phenotype-associated VAR_066834 phenoCommon Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078] VAR_066835 commonName VAR_066835 VAR_066835 disease phenotype-associated VAR_066835 phenoCommon Multiple epiphyseal dysplasia type 4 (EDM4) [MIM:226900] VAR_066836 commonName VAR_066836 VAR_066837 commonName VAR_066837 VAR_066838 commonName VAR_066838 VAR_066838 disease phenotype-associated VAR_066838 phenoCommon Mismatch repair cancer syndrome (MMRCS) [MIM:276300] VAR_066839 commonName VAR_066839 VAR_066839 disease phenotype-associated VAR_066839 phenoCommon Pitt-Hopkins syndrome (PTHS) [MIM:610954] VAR_066843 commonName VAR_066843 VAR_066843 disease phenotype-associated VAR_066843 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_066844 commonName VAR_066844 VAR_066844 disease phenotype-associated VAR_066844 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_066845 commonName VAR_066845 VAR_066845 disease phenotype-associated VAR_066845 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_066846 commonName VAR_066846 VAR_066846 disease phenotype-associated VAR_066846 phenoCommon Systemic primary carnitine deficiency (CDSP) [MIM:212140] VAR_066849 commonName VAR_066849 VAR_066849 disease phenotype-associated VAR_066849 phenoCommon Microphthalmia syndromic type 9 (MCOPS9) [MIM:601186] VAR_066850 commonName VAR_066850 VAR_066850 disease not phenotype-associated VAR_066851 commonName VAR_066851 VAR_066852 commonName VAR_066852 VAR_066853 commonName VAR_066853 VAR_066853 disease not phenotype-associated VAR_066854 commonName VAR_066854 VAR_066855 commonName VAR_066855 VAR_066856 commonName VAR_066856 VAR_066856 disease not phenotype-associated VAR_066857 commonName VAR_066857 VAR_066858 commonName VAR_066858 VAR_066860 commonName VAR_066860 VAR_066860 disease phenotype-associated VAR_066860 phenoCommon Leber congenital amaurosis (LCA) VAR_066861 commonName VAR_066861 VAR_066861 disease phenotype-associated VAR_066861 phenoCommon Leber congenital amaurosis (LCA) VAR_066862 commonName VAR_066862 VAR_066862 disease phenotype-associated VAR_066862 phenoCommon Fish-eye disease (FED) [MIM:136120] VAR_066864 commonName VAR_066864 VAR_066865 commonName VAR_066865 VAR_066866 commonName VAR_066866 VAR_066867 commonName VAR_066867 VAR_066867 disease phenotype-associated VAR_066867 phenoCommon Fish-eye disease (FED) [MIM:136120] VAR_066868 commonName VAR_066868 VAR_066868 disease phenotype-associated VAR_066868 phenoCommon Fish-eye disease (FED) [MIM:136120] VAR_066869 commonName VAR_066869 VAR_066869 disease phenotype-associated VAR_066869 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600] VAR_066870 commonName VAR_066870 VAR_066870 disease not phenotype-associated VAR_066871 commonName VAR_066871 VAR_066871 disease phenotype-associated VAR_066871 phenoCommon Primary pulmonary hypertension (PPH1) [MIM:178600] VAR_066872 commonName VAR_066872 VAR_066872 disease not phenotype-associated VAR_066873 commonName VAR_066873 VAR_066873 disease phenotype-associated VAR_066873 phenoCommon Facial clefting oblique type 1 (OBLFC1) [MIM:600251] VAR_066874 commonName VAR_066874 VAR_066874 disease phenotype-associated VAR_066874 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] VAR_066875 commonName VAR_066875 VAR_066875 disease phenotype-associated VAR_066875 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] VAR_066876 commonName VAR_066876 VAR_066876 disease phenotype-associated VAR_066876 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] VAR_066877 commonName VAR_066877 VAR_066877 disease phenotype-associated VAR_066877 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] VAR_066878 commonName VAR_066878 VAR_066878 disease phenotype-associated VAR_066878 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] VAR_066879 commonName VAR_066879 VAR_066879 disease phenotype-associated VAR_066879 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] VAR_066880 commonName VAR_066880 VAR_066880 disease phenotype-associated VAR_066880 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] VAR_066881 commonName VAR_066881 VAR_066881 disease phenotype-associated VAR_066881 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] VAR_066882 commonName VAR_066882 VAR_066882 disease phenotype-associated VAR_066882 phenoCommon Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730] VAR_066883 commonName VAR_066883 VAR_066883 disease phenotype-associated VAR_066883 phenoCommon Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] VAR_066884 commonName VAR_066884 VAR_066884 disease phenotype-associated VAR_066884 phenoCommon Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] VAR_066885 commonName VAR_066885 VAR_066885 disease phenotype-associated VAR_066885 phenoCommon Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500] VAR_066892 commonName VAR_066892 VAR_066892 disease phenotype-associated VAR_066892 phenoCommon Neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200] VAR_066893 commonName VAR_066893 VAR_066893 disease phenotype-associated VAR_066893 phenoCommon Neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200] VAR_066894 commonName VAR_066894 VAR_066894 disease phenotype-associated VAR_066894 phenoCommon Neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200] VAR_066895 commonName VAR_066895 VAR_066895 disease phenotype-associated VAR_066895 phenoCommon Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731] VAR_066896 commonName VAR_066896 VAR_066896 disease phenotype-associated VAR_066896 phenoCommon Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731] VAR_066897 commonName VAR_066897 VAR_066897 disease phenotype-associated VAR_066897 phenoCommon Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731] VAR_066898 commonName VAR_066898 VAR_066898 disease phenotype-associated VAR_066898 phenoCommon Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731] VAR_066899 commonName VAR_066899 VAR_066899 disease phenotype-associated VAR_066899 phenoCommon Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731] VAR_066900 commonName VAR_066900 VAR_066900 disease phenotype-associated VAR_066900 phenoCommon Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731] VAR_066901 commonName VAR_066901 VAR_066901 disease phenotype-associated VAR_066901 phenoCommon Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731] VAR_066902 commonName VAR_066902 VAR_066902 disease phenotype-associated VAR_066902 phenoCommon Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731] VAR_066903 commonName VAR_066903 VAR_066903 disease phenotype-associated VAR_066903 phenoCommon Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731] VAR_066904 commonName VAR_066904 VAR_066904 disease phenotype-associated VAR_066904 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780] VAR_066905 commonName VAR_066905 VAR_066905 disease phenotype-associated VAR_066905 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780] VAR_066906 commonName VAR_066906 VAR_066906 disease phenotype-associated VAR_066906 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780] VAR_066907 commonName VAR_066907 VAR_066907 disease phenotype-associated VAR_066907 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780] VAR_066908 commonName VAR_066908 VAR_066908 disease phenotype-associated VAR_066908 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780] VAR_066909 commonName VAR_066909 VAR_066909 disease phenotype-associated VAR_066909 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780] VAR_066910 commonName VAR_066910 VAR_066910 disease phenotype-associated VAR_066910 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780] VAR_066911 commonName VAR_066911 VAR_066911 disease phenotype-associated VAR_066911 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780] VAR_066912 commonName VAR_066912 VAR_066912 disease phenotype-associated VAR_066912 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780] VAR_066913 commonName VAR_066913 VAR_066913 disease phenotype-associated VAR_066913 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780] VAR_066914 commonName VAR_066914 VAR_066914 disease phenotype-associated VAR_066914 phenoCommon Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780] VAR_066915 commonName VAR_066915 VAR_066915 disease phenotype-associated VAR_066915 phenoCommon Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951] VAR_066916 commonName VAR_066916 VAR_066916 disease phenotype-associated VAR_066916 phenoCommon Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951] VAR_066917 commonName VAR_066917 VAR_066917 disease phenotype-associated VAR_066917 phenoCommon Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951] VAR_066918 commonName VAR_066918 VAR_066918 disease phenotype-associated VAR_066918 phenoCommon Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951] VAR_066919 commonName VAR_066919 VAR_066919 disease phenotype-associated VAR_066919 phenoCommon Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951] VAR_066920 commonName VAR_066920 VAR_066920 disease phenotype-associated VAR_066920 phenoCommon Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143] VAR_066921 commonName VAR_066921 VAR_066921 disease phenotype-associated VAR_066921 phenoCommon Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143] VAR_066922 commonName VAR_066922 VAR_066922 disease phenotype-associated VAR_066922 phenoCommon Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143] VAR_066923 commonName VAR_066923 VAR_066923 disease phenotype-associated VAR_066923 phenoCommon Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143] VAR_066924 commonName VAR_066924 VAR_066924 disease phenotype-associated VAR_066924 phenoCommon Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143] VAR_066926 commonName VAR_066926 VAR_066926 disease phenotype-associated VAR_066926 phenoCommon Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143] VAR_066927 commonName VAR_066927 VAR_066927 disease phenotype-associated VAR_066927 phenoCommon Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143] VAR_066928 commonName VAR_066928 VAR_066928 disease phenotype-associated VAR_066928 phenoCommon Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143] VAR_066929 commonName VAR_066929 VAR_066929 disease phenotype-associated VAR_066929 phenoCommon Rhizomelic chondrodysplasia punctata type 3 (RCDP3) [MIM:600121] VAR_066930 commonName VAR_066930 VAR_066930 disease phenotype-associated VAR_066930 phenoCommon Rhizomelic chondrodysplasia punctata type 3 (RCDP3) [MIM:600121] VAR_066931 commonName VAR_066931 VAR_066931 disease phenotype-associated VAR_066931 phenoCommon Rhizomelic chondrodysplasia punctata type 3 (RCDP3) [MIM:600121] VAR_066932 commonName VAR_066932 VAR_066932 disease not phenotype-associated VAR_066933 commonName VAR_066933 VAR_066933 disease phenotype-associated VAR_066933 phenoCommon Premature ovarian failure type 4 (POF4) [MIM:300510] VAR_066934 commonName VAR_066934 VAR_066934 disease not phenotype-associated VAR_066935 commonName VAR_066935 VAR_066935 disease not phenotype-associated VAR_066936 commonName VAR_066936 VAR_066936 disease not phenotype-associated VAR_066937 commonName VAR_066937 VAR_066937 disease not phenotype-associated VAR_066938 commonName VAR_066938 VAR_066943 commonName VAR_066943 VAR_066943 disease phenotype-associated VAR_066943 phenoCommon Kindler syndrome (KINDS) [MIM:173650] VAR_066946 commonName VAR_066946 VAR_066946 disease phenotype-associated VAR_066946 phenoCommon Epilepsy, familial temporal lobe, type 5 (ETL5) [MIM:614417] VAR_066947 commonName VAR_066947 VAR_066947 disease phenotype-associated VAR_066947 phenoCommon Familial febrile convulsions type 11 (FEB11) [MIM:614418] VAR_066948 commonName VAR_066948 VAR_066948 disease not phenotype-associated VAR_066949 commonName VAR_066949 VAR_066949 disease not phenotype-associated VAR_066950 commonName VAR_066950 VAR_066950 disease not phenotype-associated VAR_066951 commonName VAR_066951 VAR_066951 disease phenotype-associated VAR_066951 phenoCommon Retinitis pigmentosa type 1 (RP1) [MIM:180100] VAR_066952 commonName VAR_066952 VAR_066952 disease not phenotype-associated VAR_066953 commonName VAR_066953 VAR_066953 disease not phenotype-associated VAR_066954 commonName VAR_066954 VAR_066954 disease not phenotype-associated VAR_066955 commonName VAR_066955 VAR_066955 disease not phenotype-associated VAR_066956 commonName VAR_066956 VAR_066956 disease not phenotype-associated VAR_066957 commonName VAR_066957 VAR_066957 disease not phenotype-associated VAR_066958 commonName VAR_066958 VAR_066958 disease not phenotype-associated VAR_066959 commonName VAR_066959 VAR_066959 disease phenotype-associated VAR_066959 phenoCommon Retinitis pigmentosa type 1 (RP1) [MIM:180100] VAR_066960 commonName VAR_066960 VAR_066960 disease not phenotype-associated VAR_066961 commonName VAR_066961 VAR_066961 disease not phenotype-associated VAR_066962 commonName VAR_066962 VAR_066962 disease not phenotype-associated VAR_066963 commonName VAR_066963 VAR_066963 disease not phenotype-associated VAR_066964 commonName VAR_066964 VAR_066964 disease not phenotype-associated VAR_066965 commonName VAR_066965 VAR_066965 disease not phenotype-associated VAR_066966 commonName VAR_066966 VAR_066966 disease not phenotype-associated VAR_066967 commonName VAR_066967 VAR_066968 commonName VAR_066968 VAR_066968 disease not phenotype-associated VAR_066969 commonName VAR_066969 VAR_066969 disease not phenotype-associated VAR_066975 commonName VAR_066975 VAR_066976 commonName VAR_066976 VAR_066976 disease phenotype-associated VAR_066976 phenoCommon Gray platelet syndrome (GPS) [MIM:139090] VAR_066977 commonName VAR_066977 VAR_066977 disease phenotype-associated VAR_066977 phenoCommon Gray platelet syndrome (GPS) [MIM:139090] VAR_066978 commonName VAR_066978 VAR_066978 disease phenotype-associated VAR_066978 phenoCommon Gray platelet syndrome (GPS) [MIM:139090] VAR_066979 commonName VAR_066979 VAR_066980 commonName VAR_066980 VAR_066980 disease phenotype-associated VAR_066980 phenoCommon Gray platelet syndrome (GPS) [MIM:139090] VAR_066981 commonName VAR_066981 VAR_066981 disease phenotype-associated VAR_066981 phenoCommon Gray platelet syndrome (GPS) [MIM:139090] VAR_066982 commonName VAR_066982 VAR_066982 disease phenotype-associated VAR_066982 phenoCommon Gray platelet syndrome (GPS) [MIM:139090] VAR_066983 commonName VAR_066983 VAR_066983 disease phenotype-associated VAR_066983 phenoCommon Gray platelet syndrome (GPS) [MIM:139090] VAR_066984 commonName VAR_066984 VAR_066984 disease phenotype-associated VAR_066984 phenoCommon Gray platelet syndrome (GPS) [MIM:139090] VAR_066985 commonName VAR_066985 VAR_066985 disease not phenotype-associated VAR_066986 commonName VAR_066986 VAR_066987 commonName VAR_066987 VAR_066988 commonName VAR_066988 VAR_066988 disease phenotype-associated VAR_066988 phenoCommon Retinitis pigmentosa type 62 (RP62) [MIM:614181] VAR_066989 commonName VAR_066989 VAR_066989 disease phenotype-associated VAR_066989 phenoCommon Retinitis pigmentosa type 62 (RP62) [MIM:614181] VAR_066990 commonName VAR_066990 VAR_066990 disease phenotype-associated VAR_066990 phenoCommon Retinitis pigmentosa type 62 (RP62) [MIM:614181] VAR_066991 commonName VAR_066991 VAR_066991 disease phenotype-associated VAR_066991 phenoCommon Retinitis pigmentosa type 62 (RP62) [MIM:614181] VAR_066992 commonName VAR_066992 VAR_066992 disease phenotype-associated VAR_066992 phenoCommon Retinitis pigmentosa type 62 (RP62) [MIM:614181] VAR_066993 commonName VAR_066993 VAR_066993 disease not phenotype-associated VAR_066994 commonName VAR_066994 VAR_066994 disease not phenotype-associated VAR_066995 commonName VAR_066995 VAR_066995 disease not phenotype-associated VAR_066996 commonName VAR_066996 VAR_066996 disease not phenotype-associated VAR_066998 commonName VAR_066998 VAR_066998 disease not phenotype-associated VAR_066999 commonName VAR_066999 VAR_066999 disease not phenotype-associated VAR_067000 commonName VAR_067000 VAR_067000 disease not phenotype-associated VAR_067001 commonName VAR_067001 VAR_067001 disease not phenotype-associated VAR_067002 commonName VAR_067002 VAR_067002 disease not phenotype-associated VAR_067003 commonName VAR_067003 VAR_067003 disease not phenotype-associated VAR_067004 commonName VAR_067004 VAR_067004 disease phenotype-associated VAR_067004 phenoCommon Leukodystrophy hypomyelinating type 7 with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694] VAR_067005 commonName VAR_067005 VAR_067005 disease phenotype-associated VAR_067005 phenoCommon Leukodystrophy, hypomyelinating, type 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) [MIM:614381] VAR_067006 commonName VAR_067006 VAR_067006 disease phenotype-associated VAR_067006 phenoCommon Leukodystrophy, hypomyelinating, type 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) [MIM:614381] VAR_067008 commonName VAR_067008 VAR_067008 disease phenotype-associated VAR_067008 phenoCommon Leukodystrophy, hypomyelinating, type 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) [MIM:614381] VAR_067009 commonName VAR_067009 VAR_067009 disease phenotype-associated VAR_067009 phenoCommon Leukodystrophy, hypomyelinating, type 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) [MIM:614381] VAR_067010 commonName VAR_067010 VAR_067010 disease not phenotype-associated VAR_067011 commonName VAR_067011 VAR_067011 disease not phenotype-associated VAR_067012 commonName VAR_067012 VAR_067012 disease not phenotype-associated VAR_067013 commonName VAR_067013 VAR_067013 disease not phenotype-associated VAR_067014 commonName VAR_067014 VAR_067014 disease not phenotype-associated VAR_067019 commonName VAR_067019 VAR_067036 commonName VAR_067036 VAR_067036 disease not phenotype-associated VAR_067037 commonName VAR_067037 VAR_067037 disease not phenotype-associated VAR_067038 commonName VAR_067038 VAR_067039 commonName VAR_067039 VAR_067039 disease not phenotype-associated VAR_067041 commonName VAR_067041 VAR_067041 disease phenotype-associated VAR_067041 phenoCommon Adrenoleukodystrophy pseudoneonatal (Pseudo-NALD) [MIM:264470] VAR_067042 commonName VAR_067042 VAR_067042 disease phenotype-associated VAR_067042 phenoCommon Adrenoleukodystrophy pseudoneonatal (Pseudo-NALD) [MIM:264470] VAR_067043 commonName VAR_067043 VAR_067043 disease phenotype-associated VAR_067043 phenoCommon Adrenoleukodystrophy pseudoneonatal (Pseudo-NALD) [MIM:264470] VAR_067044 commonName VAR_067044 VAR_067044 disease phenotype-associated VAR_067044 phenoCommon Adrenoleukodystrophy pseudoneonatal (Pseudo-NALD) [MIM:264470] VAR_067045 commonName VAR_067045 VAR_067045 disease phenotype-associated VAR_067045 phenoCommon Arthrogryposis, distal, type 1B (DA1B) [MIM:614335] VAR_067046 commonName VAR_067046 VAR_067046 disease phenotype-associated VAR_067046 phenoCommon Arthrogryposis, distal, type 1B (DA1B) [MIM:614335] VAR_067051 commonName VAR_067051 VAR_067051 disease phenotype-associated VAR_067051 phenoCommon Loeys-Dietz syndrome type 1C (LDS1C) [MIM:613795] VAR_067053 commonName VAR_067053 VAR_067053 disease phenotype-associated VAR_067054 commonName VAR_067054 VAR_067055 commonName VAR_067055 VAR_067055 disease phenotype-associated VAR_067056 commonName VAR_067056 VAR_067057 commonName VAR_067057 VAR_067058 commonName VAR_067058 VAR_067058 disease phenotype-associated VAR_067059 commonName VAR_067059 VAR_067059 disease phenotype-associated VAR_067059 phenoCommon Joubert syndrome type 16 (JBTS16) [MIM:614465] VAR_067060 commonName VAR_067060 VAR_067060 disease phenotype-associated VAR_067060 phenoCommon Joubert syndrome type 16 (JBTS16) [MIM:614465] VAR_067061 commonName VAR_067061 VAR_067061 disease phenotype-associated VAR_067061 phenoCommon Joubert syndrome type 16 (JBTS16) [MIM:614465] VAR_067062 commonName VAR_067062 VAR_067062 disease phenotype-associated VAR_067062 phenoCommon Joubert syndrome type 16 (JBTS16) [MIM:614465] VAR_067063 commonName VAR_067063 VAR_067063 disease not phenotype-associated VAR_067064 commonName VAR_067064 VAR_067064 disease not phenotype-associated VAR_067065 commonName VAR_067065 VAR_067065 disease not phenotype-associated VAR_067066 commonName VAR_067066 VAR_067066 disease not phenotype-associated VAR_067067 commonName VAR_067067 VAR_067067 disease not phenotype-associated VAR_067068 commonName VAR_067068 VAR_067068 disease not phenotype-associated VAR_067069 commonName VAR_067069 VAR_067069 disease phenotype-associated VAR_067069 phenoCommon Cutis laxa, autosomal recessive, type 1B (ARCL1B) [MIM:614437] VAR_067070 commonName VAR_067070 VAR_067070 disease phenotype-associated VAR_067070 phenoCommon Cutis laxa, autosomal recessive, type 1B (ARCL1B) [MIM:614437] VAR_067071 commonName VAR_067071 VAR_067071 disease phenotype-associated VAR_067071 phenoCommon Albinism oculocutaneous type 4 (OCA4) [MIM:606574] VAR_067072 commonName VAR_067072 VAR_067072 disease phenotype-associated VAR_067072 phenoCommon Albinism oculocutaneous type 4 (OCA4) [MIM:606574] VAR_067073 commonName VAR_067073 VAR_067073 disease phenotype-associated VAR_067073 phenoCommon Albinism oculocutaneous type 4 (OCA4) [MIM:606574] VAR_067074 commonName VAR_067074 VAR_067074 disease phenotype-associated VAR_067074 phenoCommon Albinism oculocutaneous type 4 (OCA4) [MIM:606574] VAR_067075 commonName VAR_067075 VAR_067075 disease phenotype-associated VAR_067075 phenoCommon Erythroderma, ichthyosiform, congenital non-bullous (NCIE) [MIM:242100] VAR_067076 commonName VAR_067076 VAR_067076 disease phenotype-associated VAR_067076 phenoCommon Ichthyosis harlequin (HI) [MIM:242500] VAR_067077 commonName VAR_067077 VAR_067077 disease phenotype-associated VAR_067077 phenoCommon Erythroderma, ichthyosiform, congenital non-bullous (NCIE) [MIM:242100] VAR_067078 commonName VAR_067078 VAR_067078 disease phenotype-associated VAR_067078 phenoCommon Ichthyosis harlequin (HI) [MIM:242500] VAR_067079 commonName VAR_067079 VAR_067079 disease phenotype-associated VAR_067079 phenoCommon Erythroderma, ichthyosiform, congenital non-bullous (NCIE) [MIM:242100] VAR_067080 commonName VAR_067080 VAR_067080 disease phenotype-associated VAR_067080 phenoCommon Erythroderma, ichthyosiform, congenital non-bullous (NCIE) [MIM:242100] VAR_067084 commonName VAR_067084 VAR_067084 disease phenotype-associated VAR_067084 phenoCommon Charcot-Marie-Tooth disease type 2N (CMT2N) [MIM:613287] VAR_067085 commonName VAR_067085 VAR_067085 disease phenotype-associated VAR_067085 phenoCommon Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595] VAR_067088 commonName VAR_067088 VAR_067088 disease phenotype-associated VAR_067088 phenoCommon Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260] VAR_067089 commonName VAR_067089 VAR_067089 disease phenotype-associated VAR_067089 phenoCommon Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260] VAR_067090 commonName VAR_067090 VAR_067090 disease phenotype-associated VAR_067090 phenoCommon Familial hyperaldosteronism type 3 (FH3) [MIM:613677] VAR_067091 comment Non-epithelial ovarian tumor VAR_067091 commonName VAR_067091 VAR_067092 comment Non-epithelial ovarian tumor VAR_067092 commonName VAR_067092 VAR_067093 comment Non-epithelial ovarian tumor VAR_067093 commonName VAR_067093 VAR_067094 comment Non-epithelial ovarian tumor VAR_067094 commonName VAR_067094 VAR_067095 comment Non-epithelial ovarian tumor VAR_067095 commonName VAR_067095 VAR_067096 comment Non-epithelial ovarian tumor VAR_067096 commonName VAR_067096 VAR_067097 comment Non-epithelial ovarian tumor VAR_067097 commonName VAR_067097 VAR_067098 comment Non-epithelial ovarian tumor VAR_067098 commonName VAR_067098 VAR_067099 comment Non-epithelial ovarian tumor VAR_067099 commonName VAR_067099 VAR_067100 comment Non-epithelial ovarian tumor VAR_067100 commonName VAR_067100 VAR_067101 commonName VAR_067101 VAR_067101 disease phenotype-associated VAR_067101 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_067102 commonName VAR_067102 VAR_067102 disease phenotype-associated VAR_067102 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_067103 commonName VAR_067103 VAR_067103 disease phenotype-associated VAR_067103 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_067104 commonName VAR_067104 VAR_067104 disease phenotype-associated VAR_067104 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_067105 commonName VAR_067105 VAR_067105 disease phenotype-associated VAR_067105 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_067106 commonName VAR_067106 VAR_067106 disease phenotype-associated VAR_067106 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_067107 commonName VAR_067107 VAR_067107 disease phenotype-associated VAR_067107 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_067108 commonName VAR_067108 VAR_067108 disease phenotype-associated VAR_067108 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_067109 commonName VAR_067109 VAR_067109 disease phenotype-associated VAR_067109 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_067110 commonName VAR_067110 VAR_067110 disease phenotype-associated VAR_067110 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_067111 commonName VAR_067111 VAR_067111 disease phenotype-associated VAR_067111 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_067112 commonName VAR_067112 VAR_067112 disease phenotype-associated VAR_067112 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_067113 commonName VAR_067113 VAR_067113 disease phenotype-associated VAR_067113 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_067114 commonName VAR_067114 VAR_067114 disease phenotype-associated VAR_067114 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_067116 commonName VAR_067116 VAR_067116 disease phenotype-associated VAR_067116 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_067117 commonName VAR_067117 VAR_067117 disease phenotype-associated VAR_067117 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_067118 commonName VAR_067118 VAR_067118 disease phenotype-associated VAR_067118 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_067119 commonName VAR_067119 VAR_067119 disease phenotype-associated VAR_067119 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_067120 commonName VAR_067120 VAR_067120 disease phenotype-associated VAR_067120 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_067121 commonName VAR_067121 VAR_067121 disease phenotype-associated VAR_067121 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_067122 commonName VAR_067122 VAR_067122 disease phenotype-associated VAR_067122 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_067123 commonName VAR_067123 VAR_067123 disease phenotype-associated VAR_067123 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_067124 commonName VAR_067124 VAR_067124 disease phenotype-associated VAR_067124 phenoCommon Hirschsprung disease type 1 (HSCR1) [MIM:142623] VAR_067125 commonName VAR_067125 VAR_067125 disease phenotype-associated VAR_067125 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105] VAR_067126 commonName VAR_067126 VAR_067126 disease phenotype-associated VAR_067126 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105] VAR_067128 commonName VAR_067128 VAR_067128 disease not phenotype-associated VAR_067129 commonName VAR_067129 VAR_067129 disease phenotype-associated VAR_067130 commonName VAR_067130 VAR_067130 disease phenotype-associated VAR_067130 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105] VAR_067131 commonName VAR_067131 VAR_067131 disease phenotype-associated VAR_067131 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835] VAR_067132 commonName VAR_067132 VAR_067132 disease phenotype-associated VAR_067132 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835] VAR_067133 commonName VAR_067133 VAR_067133 disease phenotype-associated VAR_067133 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835] VAR_067134 commonName VAR_067134 VAR_067134 disease not phenotype-associated VAR_067135 commonName VAR_067135 VAR_067136 commonName VAR_067136 VAR_067136 disease phenotype-associated VAR_067136 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835] VAR_067137 commonName VAR_067137 VAR_067137 disease phenotype-associated VAR_067137 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835] VAR_067138 commonName VAR_067138 VAR_067139 commonName VAR_067139 VAR_067139 disease phenotype-associated VAR_067139 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105] VAR_067140 commonName VAR_067140 VAR_067140 disease phenotype-associated VAR_067140 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105] VAR_067141 commonName VAR_067141 VAR_067141 disease phenotype-associated VAR_067141 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105] VAR_067142 commonName VAR_067142 VAR_067142 disease phenotype-associated VAR_067142 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:613835] VAR_067144 commonName VAR_067144 VAR_067144 disease not phenotype-associated VAR_067160 commonName VAR_067160 VAR_067160 disease phenotype-associated VAR_067160 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100] VAR_067160 phenoCommon Retinitis pigmentosa type 20 (RP20) [MIM:613794] VAR_067161 commonName VAR_067161 VAR_067161 disease phenotype-associated VAR_067161 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100] VAR_067162 commonName VAR_067162 VAR_067163 commonName VAR_067163 VAR_067163 disease phenotype-associated VAR_067163 phenoCommon Leber congenital amaurosis type 2 (LCA2) [MIM:204100] VAR_067164 commonName VAR_067164 VAR_067165 commonName VAR_067165 VAR_067165 disease phenotype-associated VAR_067165 phenoCommon Leber congenital amaurosis type 4 (LCA4) [MIM:604393] VAR_067166 commonName VAR_067166 VAR_067168 commonName VAR_067168 VAR_067168 disease not phenotype-associated VAR_067169 commonName VAR_067169 VAR_067169 disease phenotype-associated VAR_067169 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000] VAR_067170 commonName VAR_067170 VAR_067170 disease phenotype-associated VAR_067170 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000] VAR_067171 commonName VAR_067171 VAR_067171 disease phenotype-associated VAR_067171 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000] VAR_067172 commonName VAR_067172 VAR_067174 commonName VAR_067174 VAR_067174 disease phenotype-associated VAR_067174 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000] VAR_067175 commonName VAR_067175 VAR_067175 disease phenotype-associated VAR_067175 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000] VAR_067176 commonName VAR_067176 VAR_067176 disease phenotype-associated VAR_067176 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000] VAR_067177 commonName VAR_067177 VAR_067177 disease phenotype-associated VAR_067177 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000] VAR_067178 commonName VAR_067178 VAR_067178 disease phenotype-associated VAR_067178 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000] VAR_067179 commonName VAR_067179 VAR_067179 disease phenotype-associated VAR_067179 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000] VAR_067180 commonName VAR_067180 VAR_067180 disease phenotype-associated VAR_067180 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000] VAR_067181 commonName VAR_067181 VAR_067181 disease phenotype-associated VAR_067181 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000] VAR_067182 commonName VAR_067182 VAR_067182 disease phenotype-associated VAR_067182 phenoCommon Leber congenital amaurosis type 1 (LCA1) [MIM:204000] VAR_067184 commonName VAR_067184 VAR_067185 commonName VAR_067185 VAR_067186 commonName VAR_067186 VAR_067186 disease phenotype-associated VAR_067186 phenoCommon Leber congenital amaurosis type 6 (LCA6) [MIM:613826] VAR_067189 commonName VAR_067189 VAR_067190 commonName VAR_067190 VAR_067190 disease not phenotype-associated VAR_067191 commonName VAR_067191 VAR_067193 commonName VAR_067193 VAR_067194 commonName VAR_067194 VAR_067196 commonName VAR_067196 VAR_067196 disease phenotype-associated VAR_067196 phenoCommon Familial hypercholesterolemia (FH) [MIM:143890] VAR_067197 commonName VAR_067197 VAR_067197 disease phenotype-associated VAR_067197 phenoCommon Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] VAR_067198 commonName VAR_067198 VAR_067198 disease phenotype-associated VAR_067198 phenoCommon Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] VAR_067199 commonName VAR_067199 VAR_067199 disease phenotype-associated VAR_067199 phenoCommon Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] VAR_067200 commonName VAR_067200 VAR_067200 disease phenotype-associated VAR_067200 phenoCommon Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] VAR_067201 commonName VAR_067201 VAR_067201 disease not phenotype-associated VAR_067202 commonName VAR_067202 VAR_067202 disease not phenotype-associated VAR_067203 commonName VAR_067203 VAR_067203 disease not phenotype-associated VAR_067204 commonName VAR_067204 VAR_067204 disease not phenotype-associated VAR_067205 commonName VAR_067205 VAR_067205 disease not phenotype-associated VAR_067206 commonName VAR_067206 VAR_067206 disease not phenotype-associated VAR_067207 commonName VAR_067207 VAR_067207 disease phenotype-associated VAR_067207 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419] VAR_067208 commonName VAR_067208 VAR_067208 disease phenotype-associated VAR_067208 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419] VAR_067209 commonName VAR_067209 VAR_067209 disease phenotype-associated VAR_067209 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419] VAR_067210 commonName VAR_067210 VAR_067210 disease phenotype-associated VAR_067210 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419] VAR_067211 commonName VAR_067211 VAR_067211 disease phenotype-associated VAR_067211 phenoCommon Myopathy myofibrillar type 1 (MFM1) [MIM:601419] VAR_067212 commonName VAR_067212 VAR_067212 disease phenotype-associated VAR_067212 phenoCommon Cataract autosomal dominant (ADC) [MIM:604219] VAR_067213 commonName VAR_067213 VAR_067213 disease phenotype-associated VAR_067213 phenoCommon Neural tube defects (NTD) [MIM:182940] VAR_067214 commonName VAR_067214 VAR_067215 commonName VAR_067215 VAR_067215 disease phenotype-associated VAR_067215 phenoCommon Neural tube defects (NTD) [MIM:182940] VAR_067216 commonName VAR_067216 VAR_067217 commonName VAR_067217 VAR_067217 disease phenotype-associated VAR_067217 phenoCommon Neural tube defects (NTD) [MIM:182940] VAR_067218 commonName VAR_067218 VAR_067218 disease phenotype-associated VAR_067218 phenoCommon Neural tube defects (NTD) [MIM:182940] VAR_067219 commonName VAR_067219 VAR_067219 disease phenotype-associated VAR_067219 phenoCommon Neural tube defects (NTD) [MIM:182940] VAR_067220 commonName VAR_067220 VAR_067220 disease phenotype-associated VAR_067220 phenoCommon Neural tube defects (NTD) [MIM:182940] VAR_067221 commonName VAR_067221 VAR_067221 disease phenotype-associated VAR_067221 phenoCommon Neural tube defects (NTD) [MIM:182940] VAR_067222 commonName VAR_067222 VAR_067222 disease phenotype-associated VAR_067222 phenoCommon Neural tube defects (NTD) [MIM:182940] VAR_067223 commonName VAR_067223 VAR_067223 disease phenotype-associated VAR_067223 phenoCommon Neural tube defects (NTD) [MIM:182940] VAR_067224 commonName VAR_067224 VAR_067224 disease phenotype-associated VAR_067224 phenoCommon Autosomal recessive osteogenesis imperfecta (AR-OI) VAR_067225 comment A patient with chronic myelomonocytic leukemia VAR_067225 commonName VAR_067225 VAR_067226 comment A patient with chronic myelomonocytic leukemia VAR_067226 commonName VAR_067226 VAR_067227 comment A patient with chronic myelomonocytic leukemia VAR_067227 commonName VAR_067227 VAR_067228 comment A patient with diffuse large B-cell lymphoma VAR_067228 commonName VAR_067228 VAR_067229 commonName VAR_067229 VAR_067230 commonName VAR_067230 VAR_067231 commonName VAR_067231 VAR_067232 commonName VAR_067232 VAR_067233 comment A patient with chronic myelomonocytic leukemia VAR_067233 commonName VAR_067233 VAR_067234 comment A patient with chronic myelomonocytic leukemia VAR_067234 commonName VAR_067234 VAR_067236 comment A patient with chronic myelomonocytic leukemia VAR_067236 commonName VAR_067236 VAR_067237 comment A patient with chronic myelomonocytic leukemia VAR_067237 commonName VAR_067237 VAR_067238 comment A patient with chronic myelomonocytic leukemia VAR_067238 commonName VAR_067238 VAR_067240 commonName VAR_067240 VAR_067240 disease phenotype-associated VAR_067240 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_067241 commonName VAR_067241 VAR_067241 disease phenotype-associated VAR_067241 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_067242 commonName VAR_067242 VAR_067242 disease phenotype-associated VAR_067242 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_067243 commonName VAR_067243 VAR_067243 disease phenotype-associated VAR_067243 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_067244 commonName VAR_067244 VAR_067244 disease phenotype-associated VAR_067244 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_067245 commonName VAR_067245 VAR_067245 disease phenotype-associated VAR_067245 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_067246 commonName VAR_067246 VAR_067246 disease phenotype-associated VAR_067246 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_067247 commonName VAR_067247 VAR_067248 commonName VAR_067248 VAR_067248 disease phenotype-associated VAR_067248 phenoCommon Focal segmental glomerulosclerosis type 2 (FSGS2) [MIM:603965] VAR_067249 commonName VAR_067249 VAR_067250 commonName VAR_067250 VAR_067250 disease phenotype-associated VAR_067250 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_067251 commonName VAR_067251 VAR_067251 disease phenotype-associated VAR_067252 commonName VAR_067252 VAR_067252 disease phenotype-associated VAR_067252 phenoCommon Nephrotic syndrome type 1 (NPHS1) [MIM:256300] VAR_067253 commonName VAR_067253 VAR_067253 disease not phenotype-associated VAR_067254 commonName VAR_067254 VAR_067254 disease not phenotype-associated VAR_067255 commonName VAR_067255 VAR_067255 disease not phenotype-associated VAR_067257 commonName VAR_067257 VAR_067257 disease phenotype-associated VAR_067257 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] VAR_067258 commonName VAR_067258 VAR_067258 disease phenotype-associated VAR_067258 phenoCommon Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200] VAR_067260 commonName VAR_067260 VAR_067260 disease phenotype-associated VAR_067260 phenoCommon Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426] VAR_067262 commonName VAR_067262 VAR_067262 disease phenotype-associated VAR_067262 phenoCommon Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426] VAR_067263 commonName VAR_067263 VAR_067263 disease phenotype-associated VAR_067263 phenoCommon Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426] VAR_067264 commonName VAR_067264 VAR_067264 disease phenotype-associated VAR_067264 phenoCommon Cardiomyopathy dilated type 1FF (CMD1FF) [MIM:613286] VAR_067265 commonName VAR_067265 VAR_067265 disease phenotype-associated VAR_067265 phenoCommon Spastic paraplegia autosomal dominant type 31 (SPG31) [MIM:610250] VAR_067266 commonName VAR_067266 VAR_067266 disease phenotype-associated VAR_067266 phenoCommon Spastic paraplegia autosomal dominant type 31 (SPG31) [MIM:610250] VAR_067267 commonName VAR_067267 VAR_067267 disease phenotype-associated VAR_067267 phenoCommon Spastic paraplegia autosomal dominant type 31 (SPG31) [MIM:610250] VAR_067268 commonName VAR_067268 VAR_067268 disease phenotype-associated VAR_067268 phenoCommon Spastic paraplegia autosomal dominant type 31 (SPG31) [MIM:610250] VAR_067269 commonName VAR_067269 VAR_067269 disease phenotype-associated VAR_067269 phenoCommon Microphthalmia isolated type 2 (MCOP2) [MIM:610093] VAR_067270 commonName VAR_067270 VAR_067271 commonName VAR_067271 VAR_067272 commonName VAR_067272 VAR_067272 disease phenotype-associated VAR_067272 phenoCommon Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700] VAR_067273 commonName VAR_067273 VAR_067273 disease not phenotype-associated VAR_067274 commonName VAR_067274 VAR_067274 disease phenotype-associated VAR_067274 phenoCommon Omenn syndrome (OS) [MIM:603554] VAR_067275 commonName VAR_067275 VAR_067275 disease phenotype-associated VAR_067276 commonName VAR_067276 VAR_067276 disease phenotype-associated VAR_067276 phenoCommon Omenn syndrome (OS) [MIM:603554] VAR_067282 commonName VAR_067282 VAR_067283 commonName VAR_067283 VAR_067283 disease not phenotype-associated VAR_067284 commonName VAR_067284 VAR_067285 commonName VAR_067285 VAR_067286 commonName VAR_067286 VAR_067287 commonName VAR_067287 VAR_067288 commonName VAR_067288 VAR_067288 disease phenotype-associated VAR_067288 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_067289 commonName VAR_067289 VAR_067294 commonName VAR_067294 VAR_067295 commonName VAR_067295 VAR_067296 commonName VAR_067296 VAR_067297 commonName VAR_067297 VAR_067300 commonName VAR_067300 VAR_067300 disease phenotype-associated VAR_067300 phenoCommon Primary ciliary dyskinesia type 2 (CILD2) [MIM:606763] VAR_067301 commonName VAR_067301 VAR_067301 disease not phenotype-associated VAR_067302 commonName VAR_067302 VAR_067302 disease phenotype-associated VAR_067302 phenoCommon Thrombophilia due to protein S deficiency, autosomal recessive (THPH6) [MIM:614514] VAR_067303 commonName VAR_067303 VAR_067303 disease phenotype-associated VAR_067303 phenoCommon Camurati-Engelmann disease (CE) [MIM:131300] VAR_067304 commonName VAR_067304 VAR_067304 disease phenotype-associated VAR_067304 phenoCommon Camurati-Engelmann disease (CE) [MIM:131300] VAR_067305 commonName VAR_067305 VAR_067305 disease phenotype-associated VAR_067305 phenoCommon Cone-rod dystrophy type 16 (CORD16) [MIM:614500] VAR_067306 commonName VAR_067306 VAR_067306 disease phenotype-associated VAR_067306 phenoCommon Retinitis pigmentosa type 64 (RP64) [MIM:614500] VAR_067307 commonName VAR_067307 VAR_067307 disease phenotype-associated VAR_067308 commonName VAR_067308 VAR_067308 disease not phenotype-associated VAR_067309 commonName VAR_067309 VAR_067309 disease phenotype-associated VAR_067309 phenoCommon Hypoinsulinemic hypoglycemia with hemihypertrophy (HIHGHH) [MIM:240900] VAR_067310 commonName VAR_067310 VAR_067310 disease phenotype-associated VAR_067310 phenoCommon Non-insulin-dependent diabetes mellitus (NIDDM) [MIM:125853] VAR_067311 commonName VAR_067311 VAR_067311 disease phenotype-associated VAR_067311 phenoCommon Amyotrophic lateral sclerosis type 16, juvenile (ALS16) [MIM:614373] VAR_067312 commonName VAR_067312 VAR_067312 disease phenotype-associated VAR_067312 phenoCommon Asphyxiating thoracic dystrophy type 5 (ATD5) [MIM:614376] VAR_067313 commonName VAR_067313 VAR_067313 disease phenotype-associated VAR_067313 phenoCommon Nephronophthisis type 13 (NPHP13) [MIM:614377] VAR_067314 commonName VAR_067314 VAR_067314 disease phenotype-associated VAR_067314 phenoCommon Cranioectodermal dysplasia type 4 (CED4) [MIM:614378] VAR_067315 commonName VAR_067315 VAR_067315 disease not phenotype-associated VAR_067316 commonName VAR_067316 VAR_067316 disease not phenotype-associated VAR_067317 commonName VAR_067317 VAR_067317 disease not phenotype-associated VAR_067318 commonName VAR_067318 VAR_067318 disease phenotype-associated VAR_067318 phenoCommon Congenital erythropoietic porphyria (CEP) [MIM:263700] VAR_067319 commonName VAR_067319 VAR_067319 disease phenotype-associated VAR_067319 phenoCommon Ectodermal dysplasia type 1 (ED1) [MIM:305100] VAR_067320 commonName VAR_067320 VAR_067320 disease not phenotype-associated VAR_067321 commonName VAR_067321 VAR_067321 disease not phenotype-associated VAR_067322 commonName VAR_067322 VAR_067322 disease phenotype-associated VAR_067322 phenoCommon Episodic kinesigenic dyskinesia type 1 (EKD1) [MIM:128200] VAR_067323 commonName VAR_067323 VAR_067323 disease phenotype-associated VAR_067323 phenoCommon Episodic kinesigenic dyskinesia type 1 (EKD1) [MIM:128200] VAR_067324 commonName VAR_067324 VAR_067324 disease phenotype-associated VAR_067324 phenoCommon Episodic kinesigenic dyskinesia type 1 (EKD1) [MIM:128200] VAR_067325 commonName VAR_067325 VAR_067325 disease phenotype-associated VAR_067325 phenoCommon Episodic kinesigenic dyskinesia type 1 (EKD1) [MIM:128200] VAR_067326 commonName VAR_067326 VAR_067326 disease phenotype-associated VAR_067326 phenoCommon Episodic kinesigenic dyskinesia type 1 (EKD1) [MIM:128200] VAR_067327 commonName VAR_067327 VAR_067327 disease phenotype-associated VAR_067327 phenoCommon Convulsions, familial infantile, with paroxysmal choreoathetosis (ICCA) [MIM:602066] VAR_067328 commonName VAR_067328 VAR_067328 disease phenotype-associated VAR_067328 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_067329 commonName VAR_067329 VAR_067329 disease phenotype-associated VAR_067329 phenoCommon Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100] VAR_067330 commonName VAR_067330 VAR_067330 disease phenotype-associated VAR_067330 phenoCommon Spastic ataxia autosomal recessive type 5 (SPAX5) [MIM:614487] VAR_067334 commonName VAR_067334 VAR_067334 disease phenotype-associated VAR_067334 phenoCommon Combined oxidative phosphorylation deficiency type 6 (COXPD6) [MIM:300816] VAR_067335 commonName VAR_067335 VAR_067335 disease phenotype-associated VAR_067335 phenoCommon Wilson disease (WD) [MIM:277900] VAR_067339 commonName VAR_067339 VAR_067340 commonName VAR_067340 VAR_067340 disease phenotype-associated VAR_067340 phenoCommon Von Willebrand disease type 2 (VWD2) [MIM:613554] VAR_067341 commonName VAR_067341 VAR_067341 disease phenotype-associated VAR_067341 phenoCommon Generalized epilepsy with febrile seizures plus type 1 (GEFS+1) [MIM:604233] VAR_067342 commonName VAR_067342 VAR_067342 disease phenotype-associated VAR_067342 phenoCommon Episodic ataxia type 2 (EA2) [MIM:108500] VAR_067343 commonName VAR_067343 VAR_067343 disease phenotype-associated VAR_067343 phenoCommon Fleck retina, familial benign (FRFB) [MIM:228980] VAR_067344 commonName VAR_067344 VAR_067344 disease phenotype-associated VAR_067344 phenoCommon Fleck retina, familial benign (FRFB) [MIM:228980] VAR_067345 commonName VAR_067345 VAR_067345 disease phenotype-associated VAR_067345 phenoCommon Spondyloepimetaphyseal dysplasia with joint laxity, type 2 (SEMDJL2) [MIM:603546] VAR_067346 commonName VAR_067346 VAR_067346 disease phenotype-associated VAR_067346 phenoCommon Spondyloepimetaphyseal dysplasia with joint laxity, type 2 (SEMDJL2) [MIM:603546] VAR_067347 commonName VAR_067347 VAR_067347 disease phenotype-associated VAR_067347 phenoCommon Spondyloepimetaphyseal dysplasia with joint laxity, type 2 (SEMDJL2) [MIM:603546] VAR_067348 commonName VAR_067348 VAR_067348 disease phenotype-associated VAR_067348 phenoCommon Spondyloepimetaphyseal dysplasia with joint laxity, type 2 (SEMDJL2) [MIM:603546] VAR_067349 commonName VAR_067349 VAR_067349 disease not phenotype-associated VAR_067350 commonName VAR_067350 VAR_067350 disease phenotype-associated VAR_067351 commonName VAR_067351 VAR_067352 commonName VAR_067352 VAR_067352 disease phenotype-associated VAR_067352 phenoCommon Cerebral cavernous malformations type 2 (CCM2) [MIM:603284] VAR_067353 commonName VAR_067353 VAR_067353 disease phenotype-associated VAR_067353 phenoCommon Cerebral cavernous malformations type 2 (CCM2) [MIM:603284] VAR_067354 commonName VAR_067354 VAR_067354 disease phenotype-associated VAR_067354 phenoCommon X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310] VAR_067355 commonName VAR_067355 VAR_067355 disease phenotype-associated VAR_067355 phenoCommon Optic atrophy type 1 (OPA1) [MIM:165500] VAR_067356 commonName VAR_067356 VAR_067356 disease phenotype-associated VAR_067356 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_067357 commonName VAR_067357 VAR_067357 disease phenotype-associated VAR_067357 phenoCommon Dystonia type 6 (DYT6) [MIM:602629] VAR_067358 commonName VAR_067358 VAR_067358 disease phenotype-associated VAR_067358 phenoCommon Familial erythrocytosis type 4 (ECYT4) [MIM:611783] VAR_067359 commonName VAR_067359 VAR_067359 disease phenotype-associated VAR_067359 phenoCommon Familial erythrocytosis type 4 (ECYT4) [MIM:611783] VAR_067360 commonName VAR_067360 VAR_067360 disease phenotype-associated VAR_067360 phenoCommon Familial erythrocytosis type 4 (ECYT4) [MIM:611783] VAR_067361 commonName VAR_067361 VAR_067361 disease phenotype-associated VAR_067361 phenoCommon Familial erythrocytosis type 4 (ECYT4) [MIM:611783] VAR_067362 commonName VAR_067362 VAR_067362 disease phenotype-associated VAR_067362 phenoCommon Familial erythrocytosis type 4 (ECYT4) [MIM:611783] VAR_067363 commonName VAR_067363 VAR_067363 disease not phenotype-associated VAR_067364 commonName VAR_067364 VAR_067364 disease not phenotype-associated VAR_067365 commonName VAR_067365 VAR_067365 disease not phenotype-associated VAR_067366 commonName VAR_067366 VAR_067366 disease not phenotype-associated VAR_067368 commonName VAR_067368 VAR_067368 disease phenotype-associated VAR_067368 phenoCommon Growth hormone insensitivity with immunodeficiency (GHII) [MIM:245590] VAR_067369 commonName VAR_067369 VAR_067369 disease phenotype-associated VAR_067369 phenoCommon Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) [MIM:612199] VAR_067370 commonName VAR_067370 VAR_067370 disease phenotype-associated VAR_067370 phenoCommon Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) [MIM:612199] VAR_067371 commonName VAR_067371 VAR_067371 disease phenotype-associated VAR_067371 phenoCommon Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) [MIM:612199] VAR_067372 commonName VAR_067372 VAR_067372 disease phenotype-associated VAR_067372 phenoCommon Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) [MIM:612199] VAR_067373 commonName VAR_067373 VAR_067373 disease phenotype-associated VAR_067373 phenoCommon Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) [MIM:612199] VAR_067374 commonName VAR_067374 VAR_067374 disease phenotype-associated VAR_067374 phenoCommon Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) [MIM:612199] VAR_067375 commonName VAR_067375 VAR_067375 disease phenotype-associated VAR_067375 phenoCommon Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) [MIM:612199] VAR_067377 commonName VAR_067377 VAR_067377 disease phenotype-associated VAR_067377 phenoCommon Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) [MIM:612199] VAR_067378 commonName VAR_067378 VAR_067378 disease phenotype-associated VAR_067378 phenoCommon Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) [MIM:612199] VAR_067380 commonName VAR_067380 VAR_067380 disease not phenotype-associated VAR_067381 commonName VAR_067381 VAR_067381 disease phenotype-associated VAR_067381 phenoCommon Atrioventricular septal defect type 5 (AVSD5) [MIM:614474] VAR_067382 commonName VAR_067382 VAR_067382 disease phenotype-associated VAR_067382 phenoCommon Atrial septal defect type 9 (ASD9) [MIM:614475] VAR_067382 phenoCommon Tetralogy of Fallot (TOF) [MIM:187500] VAR_067383 commonName VAR_067383 VAR_067384 commonName VAR_067384 VAR_067384 disease phenotype-associated VAR_067384 phenoCommon Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001] VAR_067385 commonName VAR_067385 VAR_067385 disease phenotype-associated VAR_067385 phenoCommon Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001] VAR_067386 commonName VAR_067386 VAR_067386 disease phenotype-associated VAR_067386 phenoCommon Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001] VAR_067387 commonName VAR_067387 VAR_067387 disease phenotype-associated VAR_067387 phenoCommon Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001] VAR_067388 commonName VAR_067388 VAR_067388 disease phenotype-associated VAR_067388 phenoCommon Conotruncal heart malformations (CTHM) [MIM:217095] VAR_067389 commonName VAR_067389 VAR_067389 disease phenotype-associated VAR_067389 phenoCommon Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001] VAR_067390 commonName VAR_067390 VAR_067390 disease phenotype-associated VAR_067390 phenoCommon Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001] VAR_067391 commonName VAR_067391 VAR_067391 disease phenotype-associated VAR_067391 phenoCommon Thiamine metabolism dysfunction syndrome type 5, episodic encephalopathy type (THMD5) [MIM:614458] VAR_067392 commonName VAR_067392 VAR_067392 disease phenotype-associated VAR_067392 phenoCommon Thiamine metabolism dysfunction syndrome type 5, episodic encephalopathy type (THMD5) [MIM:614458] VAR_067393 commonName VAR_067393 VAR_067393 disease phenotype-associated VAR_067393 phenoCommon Thiamine metabolism dysfunction syndrome type 5, episodic encephalopathy type (THMD5) [MIM:614458] VAR_067394 commonName VAR_067394 VAR_067394 disease phenotype-associated VAR_067394 phenoCommon Microphthalmia, isolated, with coloboma, type 7 (MCOPCB7) [MIM:614497] VAR_067395 commonName VAR_067395 VAR_067395 disease phenotype-associated VAR_067395 phenoCommon Microphthalmia, isolated, with coloboma, type 7 (MCOPCB7) [MIM:614497] VAR_067397 commonName VAR_067397 VAR_067397 disease phenotype-associated VAR_067397 phenoCommon Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820] VAR_067398 commonName VAR_067398 VAR_067398 disease phenotype-associated VAR_067398 phenoCommon Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820] VAR_067399 commonName VAR_067399 VAR_067399 disease not phenotype-associated VAR_067400 commonName VAR_067400 VAR_067400 disease not phenotype-associated VAR_067401 commonName VAR_067401 VAR_067401 disease phenotype-associated VAR_067401 phenoCommon Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820] VAR_067402 commonName VAR_067402 VAR_067402 disease phenotype-associated VAR_067402 phenoCommon Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820] VAR_067404 commonName VAR_067404 VAR_067404 disease phenotype-associated VAR_067404 phenoCommon Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820] VAR_067405 commonName VAR_067405 VAR_067405 disease phenotype-associated VAR_067405 phenoCommon Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820] VAR_067406 commonName VAR_067406 VAR_067406 disease phenotype-associated VAR_067406 phenoCommon Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820] VAR_067407 commonName VAR_067407 VAR_067407 disease phenotype-associated VAR_067407 phenoCommon Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820] VAR_067409 commonName VAR_067409 VAR_067409 disease phenotype-associated VAR_067409 phenoCommon Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820] VAR_067410 commonName VAR_067410 VAR_067410 disease phenotype-associated VAR_067410 phenoCommon Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820] VAR_067411 commonName VAR_067411 VAR_067411 disease phenotype-associated VAR_067411 phenoCommon Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820] VAR_067412 commonName VAR_067412 VAR_067413 commonName VAR_067413 VAR_067413 disease phenotype-associated VAR_067413 phenoCommon Split-hand/foot malformation type 1, with sensorineural hearing loss (SHFM1D) [MIM:220600] VAR_067414 commonName VAR_067414 VAR_067414 disease phenotype-associated VAR_067414 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_067415 commonName VAR_067415 VAR_067415 disease phenotype-associated VAR_067415 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_067416 commonName VAR_067416 VAR_067416 disease phenotype-associated VAR_067416 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_067417 commonName VAR_067417 VAR_067417 disease phenotype-associated VAR_067417 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_067418 commonName VAR_067418 VAR_067418 disease phenotype-associated VAR_067418 phenoCommon Leukodystrophy metachromatic (MLD) [MIM:250100] VAR_067423 commonName VAR_067423 VAR_067423 disease not phenotype-associated VAR_067424 commonName VAR_067424 VAR_067424 disease not phenotype-associated VAR_067425 commonName VAR_067425 VAR_067425 disease not phenotype-associated VAR_067426 commonName VAR_067426 VAR_067426 disease not phenotype-associated VAR_067427 commonName VAR_067427 VAR_067427 disease phenotype-associated VAR_067427 phenoCommon Age-related macular degeneration type 2 (ARMD2) [MIM:153800] VAR_067428 commonName VAR_067428 VAR_067428 disease phenotype-associated VAR_067428 phenoCommon Age-related macular degeneration type 2 (ARMD2) [MIM:153800] VAR_067429 commonName VAR_067429 VAR_067429 disease phenotype-associated VAR_067429 phenoCommon Age-related macular degeneration type 2 (ARMD2) [MIM:153800] VAR_067430 commonName VAR_067430 VAR_067430 disease phenotype-associated VAR_067430 phenoCommon Age-related macular degeneration type 2 (ARMD2) [MIM:153800] VAR_067431 commonName VAR_067431 VAR_067431 disease not phenotype-associated VAR_067439 commonName VAR_067439 VAR_067439 disease not phenotype-associated VAR_067440 commonName VAR_067440 VAR_067440 disease not phenotype-associated VAR_067441 commonName VAR_067441 VAR_067441 disease not phenotype-associated VAR_067442 commonName VAR_067442 VAR_067442 disease not phenotype-associated VAR_067443 commonName VAR_067443 VAR_067443 disease not phenotype-associated VAR_067444 commonName VAR_067444 VAR_067444 disease not phenotype-associated VAR_067445 commonName VAR_067445 VAR_067445 disease not phenotype-associated VAR_067446 commonName VAR_067446 VAR_067446 disease not phenotype-associated VAR_067447 commonName VAR_067447 VAR_067447 disease not phenotype-associated VAR_067448 commonName VAR_067448 VAR_067448 disease not phenotype-associated VAR_067450 commonName VAR_067450 VAR_067450 disease not phenotype-associated VAR_067451 commonName VAR_067451 VAR_067451 disease not phenotype-associated VAR_067452 commonName VAR_067452 VAR_067452 disease not phenotype-associated VAR_067453 commonName VAR_067453 VAR_067453 disease not phenotype-associated VAR_067454 commonName VAR_067454 VAR_067454 disease not phenotype-associated VAR_067456 commonName VAR_067456 VAR_067456 disease not phenotype-associated VAR_067457 commonName VAR_067457 VAR_067457 disease not phenotype-associated VAR_067458 commonName VAR_067458 VAR_067458 disease not phenotype-associated VAR_067464 commonName VAR_067464 VAR_067464 disease not phenotype-associated VAR_067465 commonName VAR_067465 VAR_067465 disease not phenotype-associated VAR_067466 commonName VAR_067466 VAR_067466 disease not phenotype-associated VAR_067469 commonName VAR_067469 VAR_067470 commonName VAR_067470 VAR_067470 disease phenotype-associated VAR_067470 phenoCommon Myopathy, early-onset, areflexia, respiratory distress, and dysphagia (EMARDD) [MIM:614399] VAR_067471 commonName VAR_067471 VAR_067471 disease phenotype-associated VAR_067471 phenoCommon Myopathy, early-onset, areflexia, respiratory distress, and dysphagia (EMARDD) [MIM:614399] VAR_067472 commonName VAR_067472 VAR_067472 disease phenotype-associated VAR_067472 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] VAR_067473 commonName VAR_067473 VAR_067473 disease phenotype-associated VAR_067473 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] VAR_067474 commonName VAR_067474 VAR_067474 disease phenotype-associated VAR_067474 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] VAR_067475 commonName VAR_067475 VAR_067475 disease phenotype-associated VAR_067475 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] VAR_067476 commonName VAR_067476 VAR_067476 disease phenotype-associated VAR_067476 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] VAR_067477 commonName VAR_067477 VAR_067477 disease phenotype-associated VAR_067477 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] VAR_067478 commonName VAR_067478 VAR_067478 disease phenotype-associated VAR_067478 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] VAR_067479 commonName VAR_067479 VAR_067479 disease phenotype-associated VAR_067479 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] VAR_067480 commonName VAR_067480 VAR_067480 disease phenotype-associated VAR_067480 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] VAR_067481 commonName VAR_067481 VAR_067481 disease phenotype-associated VAR_067481 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] VAR_067482 commonName VAR_067482 VAR_067482 disease phenotype-associated VAR_067482 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] VAR_067483 commonName VAR_067483 VAR_067483 disease phenotype-associated VAR_067483 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] VAR_067484 commonName VAR_067484 VAR_067484 disease phenotype-associated VAR_067484 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] VAR_067485 commonName VAR_067485 VAR_067485 disease phenotype-associated VAR_067485 phenoCommon Epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088] VAR_067486 commonName VAR_067486 VAR_067486 disease not phenotype-associated VAR_067487 commonName VAR_067487 VAR_067487 disease not phenotype-associated VAR_067488 commonName VAR_067488 VAR_067488 disease not phenotype-associated VAR_067489 commonName VAR_067489 VAR_067489 disease not phenotype-associated VAR_067490 commonName VAR_067490 VAR_067490 disease phenotype-associated VAR_067490 phenoCommon Cystinosis nephropathic type (CTNS) [MIM:219800] VAR_067491 commonName VAR_067491 VAR_067491 disease phenotype-associated VAR_067491 phenoCommon Cystinosis nephropathic type (CTNS) [MIM:219800] VAR_067492 commonName VAR_067492 VAR_067492 disease phenotype-associated VAR_067492 phenoCommon Cystinosis nephropathic type (CTNS) [MIM:219800] VAR_067493 commonName VAR_067493 VAR_067493 disease phenotype-associated VAR_067493 phenoCommon Cystinosis nephropathic type (CTNS) [MIM:219800] VAR_067499 commonName VAR_067499 VAR_067499 disease phenotype-associated VAR_067499 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] VAR_067500 commonName VAR_067500 VAR_067500 disease phenotype-associated VAR_067500 phenoCommon Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069] VAR_067501 commonName VAR_067501 VAR_067501 disease phenotype-associated VAR_067501 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495] VAR_067502 commonName VAR_067502 VAR_067502 disease phenotype-associated VAR_067502 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495] VAR_067503 commonName VAR_067503 VAR_067503 disease phenotype-associated VAR_067503 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495] VAR_067504 commonName VAR_067504 VAR_067504 disease phenotype-associated VAR_067504 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495] VAR_067505 commonName VAR_067505 VAR_067505 disease phenotype-associated VAR_067505 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495] VAR_067506 commonName VAR_067506 VAR_067506 disease phenotype-associated VAR_067506 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495] VAR_067507 commonName VAR_067507 VAR_067507 disease phenotype-associated VAR_067507 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495] VAR_067508 commonName VAR_067508 VAR_067508 disease phenotype-associated VAR_067508 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495] VAR_067509 commonName VAR_067509 VAR_067509 disease phenotype-associated VAR_067509 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495] VAR_067510 commonName VAR_067510 VAR_067510 disease phenotype-associated VAR_067510 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495] VAR_067511 commonName VAR_067511 VAR_067511 disease phenotype-associated VAR_067511 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495] VAR_067512 commonName VAR_067512 VAR_067512 disease phenotype-associated VAR_067512 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495] VAR_067513 commonName VAR_067513 VAR_067513 disease phenotype-associated VAR_067513 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495] VAR_067514 commonName VAR_067514 VAR_067514 disease phenotype-associated VAR_067514 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495] VAR_067515 commonName VAR_067515 VAR_067515 disease phenotype-associated VAR_067515 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495] VAR_067516 commonName VAR_067516 VAR_067516 disease phenotype-associated VAR_067516 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495] VAR_067517 commonName VAR_067517 VAR_067517 disease phenotype-associated VAR_067517 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495] VAR_067518 commonName VAR_067518 VAR_067518 disease phenotype-associated VAR_067518 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495] VAR_067519 commonName VAR_067519 VAR_067519 disease phenotype-associated VAR_067519 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495] VAR_067520 commonName VAR_067520 VAR_067520 disease phenotype-associated VAR_067520 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495] VAR_067521 commonName VAR_067521 VAR_067521 disease phenotype-associated VAR_067521 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495] VAR_067522 commonName VAR_067522 VAR_067522 disease phenotype-associated VAR_067522 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495] VAR_067523 commonName VAR_067523 VAR_067524 commonName VAR_067524 VAR_067524 disease phenotype-associated VAR_067524 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495] VAR_067525 commonName VAR_067525 VAR_067525 disease phenotype-associated VAR_067525 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495] VAR_067526 commonName VAR_067526 VAR_067526 disease phenotype-associated VAR_067526 phenoCommon Pseudohypoaldosteronism type 2D (PHA2D) [MIM:614495] VAR_067532 commonName VAR_067532 VAR_067532 disease phenotype-associated VAR_067532 phenoCommon Pseudohypoaldosteronism type 2E (PHA2E) [MIM:614496] VAR_067533 commonName VAR_067533 VAR_067533 disease phenotype-associated VAR_067533 phenoCommon Pseudohypoaldosteronism type 2E (PHA2E) [MIM:614496] VAR_067534 commonName VAR_067534 VAR_067534 disease phenotype-associated VAR_067534 phenoCommon Thrombocythemia type 3 (THCYT3) [MIM:614521] VAR_067535 commonName VAR_067535 VAR_067535 disease phenotype-associated VAR_067536 commonName VAR_067536 VAR_067536 disease phenotype-associated VAR_067536 phenoCommon Mental retardation autosomal recessive type 34 (MRT34) [MIM:614499] VAR_067539 commonName VAR_067539 VAR_067539 disease phenotype-associated VAR_067539 phenoCommon Epileptic encephalopathy, early infantile, type 13 (EIEE13) [MIM:614558] VAR_067540 commonName VAR_067540 VAR_067540 disease not phenotype-associated VAR_067541 commonName VAR_067541 VAR_067541 disease not phenotype-associated VAR_067542 commonName VAR_067542 VAR_067542 disease phenotype-associated VAR_067542 phenoCommon Psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED) [MIM:614501] VAR_067543 commonName VAR_067543 VAR_067543 disease phenotype-associated VAR_067543 phenoCommon Infantile cerebellar-retinal degeneration (ICRD) [MIM:614559] VAR_067544 commonName VAR_067544 VAR_067544 disease phenotype-associated VAR_067544 phenoCommon Congenital disorder of glycosylation type 1R (CDG1R) [MIM:614507] VAR_067551 commonName VAR_067551 VAR_067551 disease not phenotype-associated VAR_067552 commonName VAR_067552 VAR_067552 disease not phenotype-associated VAR_067553 commonName VAR_067553 VAR_067553 disease not phenotype-associated VAR_067554 commonName VAR_067554 VAR_067555 commonName VAR_067555 VAR_067556 commonName VAR_067556 VAR_067556 disease phenotype-associated VAR_067557 commonName VAR_067557 VAR_067557 disease not phenotype-associated VAR_067558 commonName VAR_067558 VAR_067559 commonName VAR_067559 VAR_067559 disease phenotype-associated VAR_067559 phenoCommon Thrombocythemia type 2 (THCYT2) [MIM:601977] VAR_067560 commonName VAR_067560 VAR_067560 disease phenotype-associated VAR_067560 phenoCommon Myelofibrosis with myeloid metaplasia (MMM) [MIM:254450] VAR_067561 commonName VAR_067561 VAR_067561 disease phenotype-associated VAR_067561 phenoCommon Myelofibrosis with myeloid metaplasia (MMM) [MIM:254450] VAR_067562 commonName VAR_067562 VAR_067562 disease phenotype-associated VAR_067562 phenoCommon Spastic paraplegia autosomal dominant type 12 (SPG12) [MIM:604805] VAR_067563 commonName VAR_067563 VAR_067564 commonName VAR_067564 VAR_067565 commonName VAR_067565 VAR_067566 commonName VAR_067566 VAR_067567 commonName VAR_067567 VAR_067568 commonName VAR_067568 VAR_067568 disease phenotype-associated VAR_067568 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_067569 commonName VAR_067569 VAR_067570 commonName VAR_067570 VAR_067571 commonName VAR_067571 VAR_067571 disease phenotype-associated VAR_067571 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_067572 commonName VAR_067572 VAR_067572 disease phenotype-associated VAR_067572 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_067573 commonName VAR_067573 VAR_067575 commonName VAR_067575 VAR_067576 commonName VAR_067576 VAR_067577 commonName VAR_067577 VAR_067577 disease phenotype-associated VAR_067578 commonName VAR_067578 VAR_067578 disease phenotype-associated VAR_067578 phenoCommon Perlman syndrome (PRLMNS) [MIM:267000] VAR_067579 commonName VAR_067579 VAR_067579 disease phenotype-associated VAR_067580 commonName VAR_067580 VAR_067580 disease phenotype-associated VAR_067580 phenoCommon Mandibulofacial dysostosis with microcephaly (MFDM) [MIM:610536] VAR_067581 commonName VAR_067581 VAR_067581 disease phenotype-associated VAR_067581 phenoCommon Mandibulofacial dysostosis with microcephaly (MFDM) [MIM:610536] VAR_067582 commonName VAR_067582 VAR_067582 disease phenotype-associated VAR_067582 phenoCommon Mandibulofacial dysostosis with microcephaly (MFDM) [MIM:610536] VAR_067586 commonName VAR_067586 VAR_067586 disease phenotype-associated VAR_067586 phenoCommon Ventricular septal defect type 3 (VSD3) [MIM:614432] VAR_067587 commonName VAR_067587 VAR_067587 disease phenotype-associated VAR_067587 phenoCommon Ventricular septal defect type 3 (VSD3) [MIM:614432] VAR_067589 commonName VAR_067589 VAR_067589 disease phenotype-associated VAR_067589 phenoCommon Charcot-Marie-Tooth disease, dominant intermediate type E (CMTDIE) [MIM:614455] VAR_067590 commonName VAR_067590 VAR_067590 disease phenotype-associated VAR_067590 phenoCommon Charcot-Marie-Tooth disease, dominant intermediate type E (CMTDIE) [MIM:614455] VAR_067591 commonName VAR_067591 VAR_067591 disease phenotype-associated VAR_067591 phenoCommon Charcot-Marie-Tooth disease, dominant intermediate type E (CMTDIE) [MIM:614455] VAR_067592 commonName VAR_067592 VAR_067592 disease phenotype-associated VAR_067592 phenoCommon Charcot-Marie-Tooth disease, dominant intermediate type E (CMTDIE) [MIM:614455] VAR_067593 commonName VAR_067593 VAR_067593 disease phenotype-associated VAR_067593 phenoCommon Charcot-Marie-Tooth disease, dominant intermediate type E (CMTDIE) [MIM:614455] VAR_067595 commonName VAR_067595 VAR_067595 disease phenotype-associated VAR_067595 phenoCommon Weaver syndrome type 2 (WVS2) [MIM:614421] VAR_067597 commonName VAR_067597 VAR_067597 disease phenotype-associated VAR_067597 phenoCommon Weaver syndrome type 2 (WVS2) [MIM:614421] VAR_067598 commonName VAR_067598 VAR_067598 disease phenotype-associated VAR_067598 phenoCommon Hypertrophic osteoarthropathy, primary, autosomal recessive, type 2 (PHOAR2) [MIM:614441] VAR_067599 commonName VAR_067599 VAR_067599 disease phenotype-associated VAR_067599 phenoCommon Hypertrophic osteoarthropathy, primary, autosomal recessive, type 2 (PHOAR2) [MIM:614441] VAR_067600 commonName VAR_067600 VAR_067600 disease phenotype-associated VAR_067600 phenoCommon Cutis laxa, autosomal recessive, type 3B (ARCL3B) [MIM:614438] VAR_067605 commonName VAR_067605 VAR_067605 disease phenotype-associated VAR_067605 phenoCommon Ventricular septal defect type 1 (VSD1) [MIM:614429] VAR_067606 commonName VAR_067606 VAR_067606 disease phenotype-associated VAR_067606 phenoCommon Ventricular septal defect type 1 (VSD1) [MIM:614429] VAR_067608 commonName VAR_067608 VAR_067610 commonName VAR_067610 VAR_067610 disease phenotype-associated VAR_067610 phenoCommon Atrioventricular septal defect type 4 (AVSD4) [MIM:614430] VAR_067624 commonName VAR_067624 VAR_067624 disease not phenotype-associated VAR_067625 commonName VAR_067625 VAR_067625 disease not phenotype-associated VAR_067626 commonName VAR_067626 VAR_067626 disease not phenotype-associated VAR_067627 commonName VAR_067627 VAR_067627 disease not phenotype-associated VAR_067628 commonName VAR_067628 VAR_067629 commonName VAR_067629 VAR_067630 commonName VAR_067630 VAR_067630 disease not phenotype-associated VAR_067632 commonName VAR_067632 VAR_067632 disease phenotype-associated VAR_067632 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_067633 commonName VAR_067633 VAR_067634 commonName VAR_067634 VAR_067635 commonName VAR_067635 VAR_067636 commonName VAR_067636 VAR_067636 disease phenotype-associated VAR_067636 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_067637 commonName VAR_067637 VAR_067637 disease phenotype-associated VAR_067637 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_067638 commonName VAR_067638 VAR_067638 disease phenotype-associated VAR_067638 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_067639 commonName VAR_067639 VAR_067639 disease phenotype-associated VAR_067639 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_067641 commonName VAR_067641 VAR_067641 disease phenotype-associated VAR_067641 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_067642 commonName VAR_067642 VAR_067642 disease phenotype-associated VAR_067642 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_067643 commonName VAR_067643 VAR_067643 disease phenotype-associated VAR_067643 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_067644 commonName VAR_067644 VAR_067644 disease phenotype-associated VAR_067644 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_067645 commonName VAR_067645 VAR_067645 disease phenotype-associated VAR_067645 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_067646 commonName VAR_067646 VAR_067646 disease phenotype-associated VAR_067646 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_067647 commonName VAR_067647 VAR_067648 commonName VAR_067648 VAR_067648 disease phenotype-associated VAR_067648 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_067649 commonName VAR_067649 VAR_067649 disease phenotype-associated VAR_067649 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_067651 commonName VAR_067651 VAR_067651 disease phenotype-associated VAR_067651 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_067652 commonName VAR_067652 VAR_067653 commonName VAR_067653 VAR_067654 commonName VAR_067654 VAR_067654 disease phenotype-associated VAR_067654 phenoCommon Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601] VAR_067655 commonName VAR_067655 VAR_067655 disease phenotype-associated VAR_067655 phenoCommon Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600] VAR_067656 commonName VAR_067656 VAR_067657 commonName VAR_067657 VAR_067657 disease phenotype-associated VAR_067657 phenoCommon Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600] VAR_067658 commonName VAR_067658 VAR_067658 disease phenotype-associated VAR_067658 phenoCommon Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600] VAR_067659 commonName VAR_067659 VAR_067659 disease phenotype-associated VAR_067659 phenoCommon Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600] VAR_067660 commonName VAR_067660 VAR_067660 disease phenotype-associated VAR_067660 phenoCommon Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600] VAR_067661 commonName VAR_067661 VAR_067661 disease phenotype-associated VAR_067661 phenoCommon Hypophosphatemic nephrolithiasis/osteoporosis type 2 (NPHLOP2) [MIM:612287] VAR_067664 commonName VAR_067664 VAR_067664 disease not phenotype-associated VAR_067665 commonName VAR_067665 VAR_067665 disease not phenotype-associated VAR_067670 commonName VAR_067670 VAR_067670 disease not phenotype-associated VAR_067671 commonName VAR_067671 VAR_067671 disease not phenotype-associated VAR_067672 commonName VAR_067672 VAR_067672 disease not phenotype-associated VAR_067674 commonName VAR_067674 VAR_067674 disease not phenotype-associated VAR_067675 commonName VAR_067675 VAR_067675 disease not phenotype-associated VAR_067676 commonName VAR_067676 VAR_067676 disease not phenotype-associated VAR_067677 commonName VAR_067677 VAR_067677 disease not phenotype-associated VAR_067678 commonName VAR_067678 VAR_067678 disease not phenotype-associated VAR_067679 commonName VAR_067679 VAR_067679 disease not phenotype-associated VAR_067680 commonName VAR_067680 VAR_067680 disease not phenotype-associated VAR_067681 commonName VAR_067681 VAR_067681 disease not phenotype-associated VAR_067682 commonName VAR_067682 VAR_067682 disease not phenotype-associated VAR_067683 commonName VAR_067683 VAR_067683 disease not phenotype-associated VAR_067684 commonName VAR_067684 VAR_067684 disease not phenotype-associated VAR_067685 commonName VAR_067685 VAR_067685 disease not phenotype-associated VAR_067686 commonName VAR_067686 VAR_067686 disease not phenotype-associated VAR_067687 commonName VAR_067687 VAR_067687 disease not phenotype-associated VAR_067689 commonName VAR_067689 VAR_067689 disease not phenotype-associated VAR_067690 commonName VAR_067690 VAR_067690 disease not phenotype-associated VAR_067691 commonName VAR_067691 VAR_067691 disease not phenotype-associated VAR_067692 commonName VAR_067692 VAR_067692 disease not phenotype-associated VAR_067693 commonName VAR_067693 VAR_067693 disease not phenotype-associated VAR_067694 commonName VAR_067694 VAR_067694 disease phenotype-associated VAR_067695 commonName VAR_067695 VAR_067696 commonName VAR_067696 VAR_067696 disease phenotype-associated VAR_067697 commonName VAR_067697 VAR_067697 disease phenotype-associated VAR_067697 phenoCommon Emery-Dreifuss muscular dystrophy type 3, autosomal recessive (EDMD3) [MIM:181350] VAR_067698 commonName VAR_067698 VAR_067698 disease phenotype-associated VAR_067698 phenoCommon Aniridia (AN) [MIM:106210] VAR_067699 commonName VAR_067699 VAR_067699 disease phenotype-associated VAR_067700 commonName VAR_067700 VAR_067700 disease phenotype-associated VAR_067701 commonName VAR_067701 VAR_067701 disease phenotype-associated VAR_067702 commonName VAR_067702 VAR_067702 disease not phenotype-associated VAR_067703 commonName VAR_067703 VAR_067703 disease not phenotype-associated VAR_067704 commonName VAR_067704 VAR_067704 disease not phenotype-associated VAR_067705 commonName VAR_067705 VAR_067705 disease not phenotype-associated VAR_067706 commonName VAR_067706 VAR_067706 disease not phenotype-associated VAR_067708 commonName VAR_067708 VAR_067708 disease not phenotype-associated VAR_067709 commonName VAR_067709 VAR_067709 disease not phenotype-associated VAR_067717 commonName VAR_067717 VAR_067717 disease not phenotype-associated VAR_067718 commonName VAR_067718 VAR_067718 disease not phenotype-associated VAR_067719 commonName VAR_067719 VAR_067719 disease not phenotype-associated VAR_067720 commonName VAR_067720 VAR_067720 disease not phenotype-associated VAR_067722 commonName VAR_067722 VAR_067722 disease phenotype-associated VAR_067722 phenoCommon Mitochondrial DNA depletion syndrome type 7 (MTDPS7) [MIM:271245] VAR_067723 commonName VAR_067723 VAR_067723 disease phenotype-associated VAR_067723 phenoCommon Peeling skin syndrome (PSS) [MIM:270300] VAR_067724 commonName VAR_067724 VAR_067724 disease phenotype-associated VAR_067724 phenoCommon Diarrhea type 6 (DIAR6) [MIM:614616] VAR_067725 commonName VAR_067725 VAR_067726 commonName VAR_067726 VAR_067727 commonName VAR_067727 VAR_067728 commonName VAR_067728 VAR_067729 commonName VAR_067729 VAR_067730 commonName VAR_067730 VAR_067731 commonName VAR_067731 VAR_067732 commonName VAR_067732 VAR_067733 commonName VAR_067733 VAR_067734 commonName VAR_067734 VAR_067735 commonName VAR_067735 VAR_067736 commonName VAR_067736 VAR_067737 commonName VAR_067737 VAR_067738 commonName VAR_067738 VAR_067739 commonName VAR_067739 VAR_067740 commonName VAR_067740 VAR_067741 commonName VAR_067741 VAR_067742 commonName VAR_067742 VAR_067743 commonName VAR_067743 VAR_067744 commonName VAR_067744 VAR_067745 commonName VAR_067745 VAR_067746 commonName VAR_067746 VAR_067747 commonName VAR_067747 VAR_067748 commonName VAR_067748 VAR_067749 commonName VAR_067749 VAR_067750 commonName VAR_067750 VAR_067751 commonName VAR_067751 VAR_067752 commonName VAR_067752 VAR_067753 commonName VAR_067753 VAR_067754 commonName VAR_067754 VAR_067755 commonName VAR_067755 VAR_067756 commonName VAR_067756 VAR_067756 disease phenotype-associated VAR_067756 phenoCommon Familial acne inversa type 1 (ACNINV1) [MIM:142690] VAR_067757 commonName VAR_067757 VAR_067758 commonName VAR_067758 VAR_067758 disease phenotype-associated VAR_067758 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_067759 commonName VAR_067759 VAR_067759 disease phenotype-associated VAR_067759 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_067760 commonName VAR_067760 VAR_067760 disease phenotype-associated VAR_067760 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_067761 commonName VAR_067761 VAR_067761 disease phenotype-associated VAR_067761 phenoCommon Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435] VAR_067762 commonName VAR_067762 VAR_067762 disease phenotype-associated VAR_067762 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004] VAR_067763 commonName VAR_067763 VAR_067763 disease phenotype-associated VAR_067763 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004] VAR_067764 commonName VAR_067764 VAR_067764 disease phenotype-associated VAR_067764 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004] VAR_067765 commonName VAR_067765 VAR_067765 disease phenotype-associated VAR_067765 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004] VAR_067766 commonName VAR_067766 VAR_067766 disease phenotype-associated VAR_067766 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004] VAR_067767 commonName VAR_067767 VAR_067767 disease phenotype-associated VAR_067767 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004] VAR_067768 commonName VAR_067768 VAR_067768 disease phenotype-associated VAR_067768 phenoCommon Leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004] VAR_067769 commonName VAR_067769 VAR_067769 disease phenotype-associated VAR_067769 phenoCommon Deafness autosomal dominant type 4B (DFNA4B) [MIM:614614] VAR_067770 commonName VAR_067770 VAR_067770 disease phenotype-associated VAR_067770 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_067771 commonName VAR_067771 VAR_067771 disease phenotype-associated VAR_067771 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_067772 commonName VAR_067772 VAR_067772 disease phenotype-associated VAR_067772 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_067773 commonName VAR_067773 VAR_067773 disease phenotype-associated VAR_067773 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_067774 commonName VAR_067774 VAR_067774 disease phenotype-associated VAR_067774 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_067775 commonName VAR_067775 VAR_067775 disease phenotype-associated VAR_067775 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_067776 commonName VAR_067776 VAR_067776 disease phenotype-associated VAR_067776 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_067777 commonName VAR_067777 VAR_067777 disease phenotype-associated VAR_067777 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_067778 commonName VAR_067778 VAR_067778 disease phenotype-associated VAR_067778 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_067779 commonName VAR_067779 VAR_067779 disease not phenotype-associated VAR_067780 commonName VAR_067780 VAR_067780 disease phenotype-associated VAR_067780 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_067781 commonName VAR_067781 VAR_067781 disease phenotype-associated VAR_067781 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_067782 commonName VAR_067782 VAR_067782 disease phenotype-associated VAR_067782 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_067783 commonName VAR_067783 VAR_067783 disease phenotype-associated VAR_067783 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_067784 commonName VAR_067784 VAR_067784 disease phenotype-associated VAR_067784 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_067785 commonName VAR_067785 VAR_067785 disease phenotype-associated VAR_067785 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_067786 commonName VAR_067786 VAR_067786 disease phenotype-associated VAR_067786 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_067787 commonName VAR_067787 VAR_067787 disease phenotype-associated VAR_067787 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_067788 commonName VAR_067788 VAR_067788 disease phenotype-associated VAR_067788 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_067789 commonName VAR_067789 VAR_067789 disease phenotype-associated VAR_067789 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_067790 commonName VAR_067790 VAR_067790 disease phenotype-associated VAR_067790 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_067792 commonName VAR_067792 VAR_067792 disease phenotype-associated VAR_067792 phenoCommon Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] VAR_067795 commonName VAR_067795 VAR_067795 disease phenotype-associated VAR_067795 phenoCommon Pre-eclampsia/eclampsia 5 (PEE5) [MIM:614595] VAR_067796 commonName VAR_067796 VAR_067796 disease not phenotype-associated VAR_067797 commonName VAR_067797 VAR_067797 disease phenotype-associated VAR_067797 phenoCommon Pre-eclampsia/eclampsia 5 (PEE5) [MIM:614595] VAR_067798 commonName VAR_067798 VAR_067798 disease phenotype-associated VAR_067798 phenoCommon UV-sensitive syndrome type 3 (UVSS3) [MIM:614640] VAR_067799 commonName VAR_067799 VAR_067799 disease not phenotype-associated VAR_067800 commonName VAR_067800 VAR_067800 disease not phenotype-associated VAR_067801 commonName VAR_067801 VAR_067801 disease phenotype-associated VAR_067801 phenoCommon Histiocytosis-lymphadenopathy plus syndrome (HLAS) [MIM:602782] VAR_067802 commonName VAR_067802 VAR_067802 disease phenotype-associated VAR_067802 phenoCommon Histiocytosis-lymphadenopathy plus syndrome (HLAS) [MIM:602782] VAR_067803 commonName VAR_067803 VAR_067803 disease not phenotype-associated VAR_067804 commonName VAR_067804 VAR_067804 disease phenotype-associated VAR_067804 phenoCommon Histiocytosis-lymphadenopathy plus syndrome (HLAS) [MIM:602782] VAR_067810 commonName VAR_067810 VAR_067810 disease phenotype-associated VAR_067810 phenoCommon Baraitser-Winter syndrome type 1 (BRWS1) [MIM:243310] VAR_067811 commonName VAR_067811 VAR_067811 disease phenotype-associated VAR_067811 phenoCommon Baraitser-Winter syndrome type 1 (BRWS1) [MIM:243310] VAR_067812 commonName VAR_067812 VAR_067812 disease phenotype-associated VAR_067812 phenoCommon Baraitser-Winter syndrome type 1 (BRWS1) [MIM:243310] VAR_067813 commonName VAR_067813 VAR_067813 disease phenotype-associated VAR_067813 phenoCommon Baraitser-Winter syndrome type 1 (BRWS1) [MIM:243310] VAR_067814 commonName VAR_067814 VAR_067814 disease phenotype-associated VAR_067814 phenoCommon Baraitser-Winter syndrome type 2 (BRWS2) [MIM:614583] VAR_067815 commonName VAR_067815 VAR_067815 disease phenotype-associated VAR_067815 phenoCommon Baraitser-Winter syndrome type 2 (BRWS2) [MIM:614583] VAR_067816 commonName VAR_067816 VAR_067816 disease phenotype-associated VAR_067816 phenoCommon Baraitser-Winter syndrome type 2 (BRWS2) [MIM:614583] VAR_067817 commonName VAR_067817 VAR_067817 disease phenotype-associated VAR_067817 phenoCommon Baraitser-Winter syndrome type 2 (BRWS2) [MIM:614583] VAR_067818 commonName VAR_067818 VAR_067818 disease phenotype-associated VAR_067818 phenoCommon Baraitser-Winter syndrome type 2 (BRWS2) [MIM:614583] VAR_067819 commonName VAR_067819 VAR_067819 disease phenotype-associated VAR_067819 phenoCommon Baraitser-Winter syndrome type 2 (BRWS2) [MIM:614583] VAR_067820 commonName VAR_067820 VAR_067820 disease phenotype-associated VAR_067820 phenoCommon Spinal muscular atrophy, lower extremity, autosomal dominant (SMALED) [MIM:158600] VAR_067821 commonName VAR_067821 VAR_067821 disease phenotype-associated VAR_067821 phenoCommon Spinal muscular atrophy, lower extremity, autosomal dominant (SMALED) [MIM:158600] VAR_067822 commonName VAR_067822 VAR_067822 disease phenotype-associated VAR_067822 phenoCommon Spinal muscular atrophy, lower extremity, autosomal dominant (SMALED) [MIM:158600] VAR_067823 commonName VAR_067823 VAR_067823 disease phenotype-associated VAR_067823 phenoCommon Mental retardation autosomal dominant type 13 (MRD13) [MIM:614563] VAR_067824 commonName VAR_067824 VAR_067824 disease phenotype-associated VAR_067824 phenoCommon Deafness autosomal dominant type 20 (DFNA20) [MIM:604717] VAR_067825 commonName VAR_067825 VAR_067825 disease phenotype-associated VAR_067825 phenoCommon Deafness autosomal dominant type 20 (DFNA20) [MIM:604717] VAR_067826 commonName VAR_067826 VAR_067826 disease phenotype-associated VAR_067826 phenoCommon Deafness autosomal dominant type 20 (DFNA20) [MIM:604717] VAR_067827 commonName VAR_067827 VAR_067827 disease phenotype-associated VAR_067827 phenoCommon Tylosis with esophageal cancer (TOC) [MIM:148500] VAR_067828 commonName VAR_067828 VAR_067828 disease phenotype-associated VAR_067828 phenoCommon Tylosis with esophageal cancer (TOC) [MIM:148500] VAR_067829 commonName VAR_067829 VAR_067829 disease phenotype-associated VAR_067829 phenoCommon Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) [MIM:152950] VAR_067830 commonName VAR_067830 VAR_067830 disease phenotype-associated VAR_067830 phenoCommon Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) [MIM:152950] VAR_067831 commonName VAR_067831 VAR_067831 disease phenotype-associated VAR_067831 phenoCommon Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) [MIM:152950] VAR_067832 commonName VAR_067832 VAR_067832 disease phenotype-associated VAR_067832 phenoCommon Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) [MIM:152950] VAR_067833 commonName VAR_067833 VAR_067833 disease phenotype-associated VAR_067833 phenoCommon Limb-girdle muscular dystrophy type 1E (LGMD1E) [MIM:603511] VAR_067834 commonName VAR_067834 VAR_067834 disease phenotype-associated VAR_067834 phenoCommon Limb-girdle muscular dystrophy type 1E (LGMD1E) [MIM:603511] VAR_067835 commonName VAR_067835 VAR_067835 disease phenotype-associated VAR_067835 phenoCommon Limb-girdle muscular dystrophy type 1E (LGMD1E) [MIM:603511] VAR_067836 commonName VAR_067836 VAR_067836 disease not phenotype-associated VAR_067837 commonName VAR_067837 VAR_067837 disease phenotype-associated VAR_067837 phenoCommon Porencephaly type 2 (POREN2) [MIM:614483] VAR_067838 commonName VAR_067838 VAR_067838 disease phenotype-associated VAR_067838 phenoCommon Porencephaly type 2 (POREN2) [MIM:614483] VAR_067839 commonName VAR_067839 VAR_067839 disease phenotype-associated VAR_067839 phenoCommon Pyruvate dehydrogenase lipoic acid synthetase deficiency (PDHLD) [MIM:614462] VAR_067841 commonName VAR_067841 VAR_067841 disease not phenotype-associated VAR_067842 commonName VAR_067842 VAR_067842 disease not phenotype-associated VAR_067843 commonName VAR_067843 VAR_067843 disease phenotype-associated VAR_067843 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067844 commonName VAR_067844 VAR_067844 disease not phenotype-associated VAR_067845 commonName VAR_067845 VAR_067845 disease phenotype-associated VAR_067845 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067846 commonName VAR_067846 VAR_067846 disease phenotype-associated VAR_067846 phenoCommon Arterial calcification of infancy, generalized, type 2 (GACI2) [MIM:614473] VAR_067846 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067848 commonName VAR_067848 VAR_067848 disease phenotype-associated VAR_067848 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067849 commonName VAR_067849 VAR_067849 disease phenotype-associated VAR_067849 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067850 commonName VAR_067850 VAR_067850 disease phenotype-associated VAR_067850 phenoCommon Arterial calcification of infancy, generalized, type 2 (GACI2) [MIM:614473] VAR_067850 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067851 commonName VAR_067851 VAR_067851 disease phenotype-associated VAR_067851 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067852 commonName VAR_067852 VAR_067852 disease phenotype-associated VAR_067852 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067853 commonName VAR_067853 VAR_067853 disease not phenotype-associated VAR_067854 commonName VAR_067854 VAR_067854 disease phenotype-associated VAR_067854 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067855 commonName VAR_067855 VAR_067855 disease phenotype-associated VAR_067855 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067856 commonName VAR_067856 VAR_067856 disease phenotype-associated VAR_067856 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067857 commonName VAR_067857 VAR_067857 disease not phenotype-associated VAR_067858 commonName VAR_067858 VAR_067858 disease phenotype-associated VAR_067858 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067859 commonName VAR_067859 VAR_067859 disease phenotype-associated VAR_067859 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067860 commonName VAR_067860 VAR_067860 disease phenotype-associated VAR_067860 phenoCommon Arterial calcification of infancy, generalized, type 2 (GACI2) [MIM:614473] VAR_067861 commonName VAR_067861 VAR_067861 disease phenotype-associated VAR_067861 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067862 commonName VAR_067862 VAR_067862 disease phenotype-associated VAR_067862 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067863 commonName VAR_067863 VAR_067863 disease phenotype-associated VAR_067863 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067864 commonName VAR_067864 VAR_067864 disease phenotype-associated VAR_067864 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067865 commonName VAR_067865 VAR_067865 disease phenotype-associated VAR_067865 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067866 commonName VAR_067866 VAR_067866 disease phenotype-associated VAR_067866 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067867 commonName VAR_067867 VAR_067867 disease not phenotype-associated VAR_067868 commonName VAR_067868 VAR_067868 disease not phenotype-associated VAR_067869 commonName VAR_067869 VAR_067869 disease phenotype-associated VAR_067869 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067870 commonName VAR_067870 VAR_067870 disease not phenotype-associated VAR_067871 commonName VAR_067871 VAR_067871 disease phenotype-associated VAR_067871 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067872 commonName VAR_067872 VAR_067872 disease phenotype-associated VAR_067872 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067873 commonName VAR_067873 VAR_067873 disease phenotype-associated VAR_067873 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067874 commonName VAR_067874 VAR_067874 disease phenotype-associated VAR_067874 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067875 commonName VAR_067875 VAR_067875 disease phenotype-associated VAR_067875 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067876 commonName VAR_067876 VAR_067876 disease phenotype-associated VAR_067876 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067877 commonName VAR_067877 VAR_067877 disease phenotype-associated VAR_067877 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067878 commonName VAR_067878 VAR_067878 disease phenotype-associated VAR_067878 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067879 commonName VAR_067879 VAR_067879 disease phenotype-associated VAR_067879 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067880 commonName VAR_067880 VAR_067880 disease phenotype-associated VAR_067880 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067881 commonName VAR_067881 VAR_067881 disease phenotype-associated VAR_067881 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067882 commonName VAR_067882 VAR_067882 disease phenotype-associated VAR_067882 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067883 commonName VAR_067883 VAR_067883 disease not phenotype-associated VAR_067884 commonName VAR_067884 VAR_067884 disease phenotype-associated VAR_067884 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067885 commonName VAR_067885 VAR_067885 disease phenotype-associated VAR_067885 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067888 commonName VAR_067888 VAR_067888 disease phenotype-associated VAR_067888 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067889 commonName VAR_067889 VAR_067889 disease not phenotype-associated VAR_067890 commonName VAR_067890 VAR_067890 disease phenotype-associated VAR_067890 phenoCommon Arterial calcification of infancy, generalized, type 2 (GACI2) [MIM:614473] VAR_067890 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067891 commonName VAR_067891 VAR_067891 disease phenotype-associated VAR_067891 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067892 commonName VAR_067892 VAR_067892 disease phenotype-associated VAR_067892 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067893 commonName VAR_067893 VAR_067893 disease phenotype-associated VAR_067893 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067894 commonName VAR_067894 VAR_067894 disease phenotype-associated VAR_067894 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067895 commonName VAR_067895 VAR_067895 disease phenotype-associated VAR_067895 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067896 commonName VAR_067896 VAR_067896 disease phenotype-associated VAR_067896 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067897 commonName VAR_067897 VAR_067897 disease phenotype-associated VAR_067897 phenoCommon Arterial calcification of infancy, generalized, type 2 (GACI2) [MIM:614473] VAR_067898 commonName VAR_067898 VAR_067898 disease phenotype-associated VAR_067898 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067899 commonName VAR_067899 VAR_067899 disease phenotype-associated VAR_067899 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067900 commonName VAR_067900 VAR_067900 disease phenotype-associated VAR_067900 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067901 commonName VAR_067901 VAR_067901 disease phenotype-associated VAR_067901 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067902 commonName VAR_067902 VAR_067902 disease phenotype-associated VAR_067902 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067903 commonName VAR_067903 VAR_067903 disease phenotype-associated VAR_067903 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067904 commonName VAR_067904 VAR_067904 disease phenotype-associated VAR_067904 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067905 commonName VAR_067905 VAR_067905 disease phenotype-associated VAR_067905 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067906 commonName VAR_067906 VAR_067906 disease phenotype-associated VAR_067906 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067907 commonName VAR_067907 VAR_067907 disease phenotype-associated VAR_067907 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067908 commonName VAR_067908 VAR_067908 disease phenotype-associated VAR_067908 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067909 commonName VAR_067909 VAR_067909 disease phenotype-associated VAR_067909 phenoCommon Pseudoxanthoma elasticum (PXE) [MIM:264800] VAR_067910 commonName VAR_067910 VAR_067910 disease phenotype-associated VAR_067910 phenoCommon Arterial calcification of infancy, generalized, type 1 (GACI1) [MIM:208000] VAR_067912 commonName VAR_067912 VAR_067912 disease phenotype-associated VAR_067912 phenoCommon Arterial calcification of infancy, generalized, type 1 (GACI1) [MIM:208000] VAR_067913 commonName VAR_067913 VAR_067913 disease phenotype-associated VAR_067913 phenoCommon Arterial calcification of infancy, generalized, type 1 (GACI1) [MIM:208000] VAR_067914 commonName VAR_067914 VAR_067914 disease phenotype-associated VAR_067914 phenoCommon Arterial calcification of infancy, generalized, type 1 (GACI1) [MIM:208000] VAR_067915 commonName VAR_067915 VAR_067915 disease phenotype-associated VAR_067915 phenoCommon Congenital cataracts, hearing loss, and neurodegeneration (CCHLND) [MIM:614482] VAR_067916 commonName VAR_067916 VAR_067916 disease phenotype-associated VAR_067916 phenoCommon Trigonocephaly type 2 (TRIGNO2) [MIM:614485] VAR_067917 commonName VAR_067917 VAR_067917 disease phenotype-associated VAR_067917 phenoCommon Trigonocephaly type 2 (TRIGNO2) [MIM:614485] VAR_067919 commonName VAR_067919 VAR_067919 disease phenotype-associated VAR_067919 phenoCommon Cutaneous telangiectasia and cancer syndrome, familial (FCTCS) [MIM:614564] VAR_067920 commonName VAR_067920 VAR_067920 disease phenotype-associated VAR_067920 phenoCommon Olmsted syndrome (OLMS) [MIM:614594] VAR_067921 commonName VAR_067921 VAR_067921 disease phenotype-associated VAR_067921 phenoCommon Olmsted syndrome (OLMS) [MIM:614594] VAR_067922 commonName VAR_067922 VAR_067922 disease phenotype-associated VAR_067922 phenoCommon Olmsted syndrome (OLMS) [MIM:614594] VAR_067923 commonName VAR_067923 VAR_067923 disease phenotype-associated VAR_067923 phenoCommon Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) [MIM:614416] VAR_067924 commonName VAR_067924 VAR_067924 disease phenotype-associated VAR_067924 phenoCommon Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) [MIM:614416] VAR_067925 commonName VAR_067925 VAR_067925 disease phenotype-associated VAR_067925 phenoCommon Congenital stationary night blindness type 1E (CSNB1E) [MIM:614565] VAR_067926 commonName VAR_067926 VAR_067926 disease phenotype-associated VAR_067926 phenoCommon Congenital stationary night blindness type 1E (CSNB1E) [MIM:614565] VAR_067927 commonName VAR_067927 VAR_067927 disease phenotype-associated VAR_067927 phenoCommon Congenital stationary night blindness type 1E (CSNB1E) [MIM:614565] VAR_067928 commonName VAR_067928 HbVar.686 protEffect HBB 7(A3) Glu>Val AND HBB 83(EF6) Lys>Asn VAR_067928 disease phenotype-associated VAR_067928 phenoCommon Congenital stationary night blindness type 1E (CSNB1E) [MIM:614565] VAR_067929 commonName VAR_067929 VAR_067929 disease phenotype-associated VAR_067929 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_067930 commonName VAR_067930 VAR_067930 disease phenotype-associated VAR_067930 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_067931 commonName VAR_067931 VAR_067931 disease phenotype-associated VAR_067931 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_067932 commonName VAR_067932 VAR_067932 disease phenotype-associated VAR_067932 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_067933 commonName VAR_067933 VAR_067933 disease phenotype-associated VAR_067933 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_067934 commonName VAR_067934 VAR_067934 disease phenotype-associated VAR_067934 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_067935 commonName VAR_067935 VAR_067935 disease phenotype-associated VAR_067935 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_067936 commonName VAR_067936 VAR_067936 disease phenotype-associated VAR_067936 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_067937 commonName VAR_067937 VAR_067937 disease phenotype-associated VAR_067937 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_067938 commonName VAR_067938 VAR_067938 disease phenotype-associated VAR_067938 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_067939 commonName VAR_067939 VAR_067939 disease phenotype-associated VAR_067939 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_067940 commonName VAR_067940 VAR_067940 disease phenotype-associated VAR_067940 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_067941 commonName VAR_067941 VAR_067941 disease phenotype-associated VAR_067941 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_067942 commonName VAR_067942 VAR_067942 disease phenotype-associated VAR_067942 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_067943 commonName VAR_067943 VAR_067943 disease phenotype-associated VAR_067943 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_067944 commonName VAR_067944 VAR_067944 disease phenotype-associated VAR_067944 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_067945 commonName VAR_067945 VAR_067945 disease phenotype-associated VAR_067945 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_067946 commonName VAR_067946 VAR_067946 disease phenotype-associated VAR_067946 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_067947 commonName VAR_067947 VAR_067947 disease phenotype-associated VAR_067947 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_067948 commonName VAR_067948 VAR_067948 disease phenotype-associated VAR_067948 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_067949 commonName VAR_067949 VAR_067949 disease phenotype-associated VAR_067949 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_067950 commonName VAR_067950 VAR_067950 disease phenotype-associated VAR_067950 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_067951 commonName VAR_067951 VAR_067951 disease phenotype-associated VAR_067951 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_067952 commonName VAR_067952 VAR_067952 disease phenotype-associated VAR_067952 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_067953 commonName VAR_067953 VAR_067953 disease phenotype-associated VAR_067953 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_067954 commonName VAR_067954 VAR_067954 disease phenotype-associated VAR_067954 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_067955 commonName VAR_067955 VAR_067955 disease phenotype-associated VAR_067955 phenoCommon Factor XI deficiency (FA11D) [MIM:612416] VAR_067956 commonName VAR_067956 VAR_067956 disease phenotype-associated VAR_067956 phenoCommon Leigh syndrome (LS) [MIM:256000] VAR_067957 commonName VAR_067957 VAR_067957 disease phenotype-associated VAR_067957 phenoCommon Trichohepatoenteric syndrome type 1 (THES1) [MIM:222470] VAR_067958 commonName VAR_067958 VAR_067958 disease phenotype-associated VAR_067958 phenoCommon Trichohepatoenteric syndrome type 1 (THES1) [MIM:222470] VAR_067959 commonName VAR_067959 VAR_067959 disease phenotype-associated VAR_067959 phenoCommon Trichohepatoenteric syndrome type 1 (THES1) [MIM:222470] VAR_067960 commonName VAR_067960 VAR_067960 disease phenotype-associated VAR_067960 phenoCommon Hereditary folate malabsorption (HFM) [MIM:229050] VAR_067961 commonName VAR_067961 VAR_067961 disease phenotype-associated VAR_067961 phenoCommon Hereditary folate malabsorption (HFM) [MIM:229050] VAR_067962 commonName VAR_067962 VAR_067962 disease phenotype-associated VAR_067962 phenoCommon Hereditary folate malabsorption (HFM) [MIM:229050] VAR_067963 commonName VAR_067963 VAR_067963 disease phenotype-associated VAR_067963 phenoCommon Hereditary folate malabsorption (HFM) [MIM:229050] VAR_067964 commonName VAR_067964 VAR_067964 disease phenotype-associated VAR_067964 phenoCommon Amyotrophic lateral sclerosis type 8 (ALS8) [MIM:608627] VAR_067965 comment Patients with gastrointestinal diffuse large cell lymphoma VAR_067965 commonName VAR_067965 VAR_067966 comment Patients with gastrointestinal diffuse large cell lymphoma VAR_067966 commonName VAR_067966 VAR_067967 comment Patients with gastrointestinal diffuse large cell lymphoma VAR_067967 commonName VAR_067967 VAR_067968 comment Patients with gastrointestinal diffuse large cell lymphoma VAR_067968 commonName VAR_067968 VAR_067969 comment Patients with gastrointestinal diffuse large cell lymphoma VAR_067969 commonName VAR_067969 VAR_067970 comment Patients with gastrointestinal diffuse large cell lymphoma VAR_067970 commonName VAR_067970 VAR_067971 commonName VAR_067971 VAR_067971 disease phenotype-associated VAR_067972 commonName VAR_067972 VAR_067972 disease not phenotype-associated VAR_067973 commonName VAR_067973 VAR_067973 disease phenotype-associated VAR_067974 commonName VAR_067974 VAR_067974 disease not phenotype-associated VAR_067977 commonName VAR_067977 VAR_067977 disease phenotype-associated VAR_067977 phenoCommon Bent bone dysplasia syndrome (BBDS) [MIM:614592] VAR_067978 commonName VAR_067978 VAR_067978 disease phenotype-associated VAR_067978 phenoCommon Bent bone dysplasia syndrome (BBDS) [MIM:614592] VAR_067979 commonName VAR_067979 VAR_067979 disease phenotype-associated VAR_067979 phenoCommon Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300] VAR_067980 commonName VAR_067980 VAR_067980 disease phenotype-associated VAR_067980 phenoCommon Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300] VAR_067981 commonName VAR_067981 VAR_067981 disease phenotype-associated VAR_067981 phenoCommon Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300] VAR_067982 commonName VAR_067982 VAR_067982 disease phenotype-associated VAR_067982 phenoCommon Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300] VAR_067983 commonName VAR_067983 VAR_067983 disease phenotype-associated VAR_067983 phenoCommon Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300] VAR_067984 commonName VAR_067984 VAR_067984 disease phenotype-associated VAR_067984 phenoCommon Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300] VAR_067985 commonName VAR_067985 VAR_067985 disease phenotype-associated VAR_067985 phenoCommon Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300] VAR_067986 commonName VAR_067986 VAR_067986 disease phenotype-associated VAR_067986 phenoCommon Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300] VAR_067987 commonName VAR_067987 VAR_067987 disease phenotype-associated VAR_067987 phenoCommon Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300] VAR_067988 commonName VAR_067988 VAR_067988 disease phenotype-associated VAR_067988 phenoCommon Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300] VAR_067989 commonName VAR_067989 VAR_067989 disease phenotype-associated VAR_067989 phenoCommon Distal spinal muscular atrophy congenital non-progressive (DSMAC) [MIM:600175] VAR_067990 commonName VAR_067990 VAR_067990 disease phenotype-associated VAR_067990 phenoCommon Charcot-Marie-Tooth disease type 2C (CMT2C) [MIM:606071] VAR_067990 phenoCommon Distal spinal muscular atrophy congenital non-progressive (DSMAC) [MIM:600175] VAR_067991 commonName VAR_067991 VAR_067991 disease phenotype-associated VAR_067991 phenoCommon Charcot-Marie-Tooth disease type 2C (CMT2C) [MIM:606071] VAR_067993 commonName VAR_067993 VAR_067993 disease phenotype-associated VAR_067993 phenoCommon Charcot-Marie-Tooth disease type 2C (CMT2C) [MIM:606071] VAR_067994 commonName VAR_067994 VAR_067994 disease phenotype-associated VAR_067994 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_067995 commonName VAR_067995 VAR_067995 disease phenotype-associated VAR_067995 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_067996 commonName VAR_067996 VAR_067996 disease phenotype-associated VAR_067996 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_067997 commonName VAR_067997 VAR_067997 disease phenotype-associated VAR_067997 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_067998 commonName VAR_067998 VAR_067998 disease phenotype-associated VAR_067998 phenoCommon Hyperphenylalaninemia (HPA) [MIM:261600] VAR_067998 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_067999 commonName VAR_067999 VAR_067999 disease phenotype-associated VAR_067999 phenoCommon Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] VAR_068000 commonName VAR_068000 VAR_068000 disease phenotype-associated VAR_068000 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_068001 commonName VAR_068001 VAR_068001 disease phenotype-associated VAR_068001 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_068002 commonName VAR_068002 VAR_068002 disease phenotype-associated VAR_068002 phenoCommon Hyperphenylalaninemia (HPA) [MIM:261600] VAR_068003 commonName VAR_068003 VAR_068003 disease phenotype-associated VAR_068003 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_068004 commonName VAR_068004 VAR_068004 disease phenotype-associated VAR_068004 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_068005 commonName VAR_068005 VAR_068005 disease phenotype-associated VAR_068005 phenoCommon Hyperphenylalaninemia (HPA) [MIM:261600] VAR_068006 commonName VAR_068006 VAR_068006 disease phenotype-associated VAR_068006 phenoCommon Hyperphenylalaninemia (HPA) [MIM:261600] VAR_068007 commonName VAR_068007 VAR_068007 disease phenotype-associated VAR_068007 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_068008 commonName VAR_068008 VAR_068008 disease phenotype-associated VAR_068008 phenoCommon Phenylketonuria (PKU) [MIM:261600] VAR_068009 commonName VAR_068009 VAR_068009 disease not phenotype-associated VAR_068010 commonName VAR_068010 VAR_068010 disease not phenotype-associated VAR_068011 commonName VAR_068011 VAR_068011 disease not phenotype-associated VAR_068014 commonName VAR_068014 VAR_068014 disease not phenotype-associated VAR_068016 commonName VAR_068016 VAR_068016 disease not phenotype-associated VAR_068017 commonName VAR_068017 VAR_068017 disease phenotype-associated VAR_068017 phenoCommon Familial breast-ovarian cancer type 3 (BROVCA3) [MIM:613399] VAR_068018 commonName VAR_068018 VAR_068018 disease not phenotype-associated VAR_068019 commonName VAR_068019 VAR_068019 disease phenotype-associated VAR_068019 phenoCommon Familial breast-ovarian cancer type 3 (BROVCA3) [MIM:613399] VAR_068020 commonName VAR_068020 VAR_068020 disease not phenotype-associated VAR_068024 commonName VAR_068024 VAR_068024 disease phenotype-associated VAR_068024 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_068025 commonName VAR_068025 VAR_068025 disease phenotype-associated VAR_068025 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_068026 commonName VAR_068026 VAR_068026 disease phenotype-associated VAR_068026 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_068027 commonName VAR_068027 VAR_068027 disease phenotype-associated VAR_068027 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_068028 commonName VAR_068028 VAR_068028 disease phenotype-associated VAR_068028 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_068029 commonName VAR_068029 VAR_068029 disease phenotype-associated VAR_068029 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_068030 commonName VAR_068030 VAR_068030 disease phenotype-associated VAR_068030 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_068031 commonName VAR_068031 VAR_068031 disease phenotype-associated VAR_068031 phenoCommon Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900] VAR_068032 commonName VAR_068032 VAR_068032 disease phenotype-associated VAR_068032 phenoCommon Usher syndrome type 2C (USH2C) [MIM:605472] VAR_068033 commonName VAR_068033 VAR_068033 disease phenotype-associated VAR_068033 phenoCommon Usher syndrome type 2C (USH2C) [MIM:605472] VAR_068034 commonName VAR_068034 VAR_068034 disease phenotype-associated VAR_068034 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_068035 commonName VAR_068035 VAR_068035 disease phenotype-associated VAR_068035 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_068036 commonName VAR_068036 VAR_068036 disease phenotype-associated VAR_068036 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_068037 commonName VAR_068037 VAR_068037 disease phenotype-associated VAR_068037 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_068038 commonName VAR_068038 VAR_068038 disease phenotype-associated VAR_068038 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_068039 commonName VAR_068039 VAR_068039 disease phenotype-associated VAR_068039 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_068040 commonName VAR_068040 VAR_068040 disease phenotype-associated VAR_068040 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_068041 commonName VAR_068041 VAR_068041 disease phenotype-associated VAR_068041 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_068042 commonName VAR_068042 VAR_068042 disease phenotype-associated VAR_068042 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_068043 commonName VAR_068043 VAR_068043 disease not phenotype-associated VAR_068044 commonName VAR_068044 VAR_068044 disease phenotype-associated VAR_068044 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_068045 commonName VAR_068045 VAR_068045 disease not phenotype-associated VAR_068046 commonName VAR_068046 VAR_068046 disease phenotype-associated VAR_068046 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_068048 commonName VAR_068048 VAR_068048 disease phenotype-associated VAR_068048 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_068049 commonName VAR_068049 VAR_068049 disease phenotype-associated VAR_068049 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_068050 commonName VAR_068050 VAR_068050 disease phenotype-associated VAR_068050 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_068051 commonName VAR_068051 VAR_068051 disease phenotype-associated VAR_068051 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_068052 commonName VAR_068052 VAR_068052 disease phenotype-associated VAR_068052 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_068053 commonName VAR_068053 VAR_068053 disease phenotype-associated VAR_068053 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_068054 commonName VAR_068054 VAR_068054 disease phenotype-associated VAR_068054 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_068055 commonName VAR_068055 VAR_068055 disease phenotype-associated VAR_068055 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_068056 commonName VAR_068056 VAR_068056 disease phenotype-associated VAR_068056 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_068057 commonName VAR_068057 VAR_068057 disease phenotype-associated VAR_068057 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_068058 commonName VAR_068058 VAR_068058 disease not phenotype-associated VAR_068059 commonName VAR_068059 VAR_068059 disease phenotype-associated VAR_068059 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_068060 commonName VAR_068060 VAR_068060 disease phenotype-associated VAR_068060 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_068061 commonName VAR_068061 VAR_068061 disease phenotype-associated VAR_068061 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_068063 commonName VAR_068063 VAR_068063 disease phenotype-associated VAR_068063 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_068064 commonName VAR_068064 VAR_068064 disease phenotype-associated VAR_068064 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_068065 commonName VAR_068065 VAR_068065 disease phenotype-associated VAR_068065 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_068066 commonName VAR_068066 VAR_068066 disease phenotype-associated VAR_068066 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_068067 commonName VAR_068067 VAR_068067 disease phenotype-associated VAR_068067 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_068068 commonName VAR_068068 VAR_068068 disease phenotype-associated VAR_068068 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_068069 commonName VAR_068069 VAR_068069 disease phenotype-associated VAR_068069 phenoCommon Lysosomal alpha-mannosidosis (AM) [MIM:248500] VAR_068070 commonName VAR_068070 VAR_068070 disease phenotype-associated VAR_068070 phenoCommon Congenital disorder of glycosylation type 1P (CDG1P) [MIM:613661] VAR_068071 commonName VAR_068071 VAR_068071 disease phenotype-associated VAR_068071 phenoCommon Congenital disorder of glycosylation type 1P (CDG1P) [MIM:613661] VAR_068072 commonName VAR_068072 VAR_068072 disease phenotype-associated VAR_068072 phenoCommon Congenital disorder of glycosylation type 1P (CDG1P) [MIM:613661] VAR_068073 commonName VAR_068073 VAR_068073 disease phenotype-associated VAR_068073 phenoCommon Congenital disorder of glycosylation type 1P (CDG1P) [MIM:613661] VAR_068074 commonName VAR_068074 VAR_068075 commonName VAR_068075 VAR_068076 commonName VAR_068076 VAR_068077 commonName VAR_068077 VAR_068078 commonName VAR_068078 VAR_068079 commonName VAR_068079 VAR_068079 disease phenotype-associated VAR_068080 commonName VAR_068080 VAR_068080 disease phenotype-associated VAR_068080 phenoCommon Renal-coloboma syndrome (RCS) [MIM:120330] VAR_068081 commonName VAR_068081 VAR_068081 disease phenotype-associated VAR_068081 phenoCommon Renal-coloboma syndrome (RCS) [MIM:120330] VAR_068082 commonName VAR_068082 VAR_068082 disease phenotype-associated VAR_068082 phenoCommon Renal-coloboma syndrome (RCS) [MIM:120330] VAR_068083 commonName VAR_068083 VAR_068083 disease phenotype-associated VAR_068083 phenoCommon Renal-coloboma syndrome (RCS) [MIM:120330] VAR_068085 commonName VAR_068085 VAR_068085 disease phenotype-associated VAR_068085 phenoCommon Renal-coloboma syndrome (RCS) [MIM:120330] VAR_068086 commonName VAR_068086 VAR_068086 disease phenotype-associated VAR_068086 phenoCommon Renal-coloboma syndrome (RCS) [MIM:120330] VAR_068089 commonName VAR_068089 VAR_068089 disease phenotype-associated VAR_068089 phenoCommon Renal-coloboma syndrome (RCS) [MIM:120330] VAR_068090 commonName VAR_068090 VAR_068090 disease phenotype-associated VAR_068090 phenoCommon Renal-coloboma syndrome (RCS) [MIM:120330] VAR_068091 commonName VAR_068091 VAR_068091 disease phenotype-associated VAR_068091 phenoCommon Renal-coloboma syndrome (RCS) [MIM:120330] VAR_068092 commonName VAR_068092 VAR_068092 disease phenotype-associated VAR_068092 phenoCommon Renal-coloboma syndrome (RCS) [MIM:120330] VAR_068093 commonName VAR_068093 VAR_068093 disease not phenotype-associated VAR_068094 commonName VAR_068094 VAR_068094 disease not phenotype-associated VAR_068095 commonName VAR_068095 VAR_068095 disease not phenotype-associated VAR_068096 commonName VAR_068096 VAR_068097 commonName VAR_068097 VAR_068097 disease phenotype-associated VAR_068098 commonName VAR_068098 VAR_068098 disease phenotype-associated VAR_068099 commonName VAR_068099 VAR_068100 commonName VAR_068100 VAR_068101 commonName VAR_068101 VAR_068101 disease phenotype-associated VAR_068101 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A7 (MDDGA7) [MIM:614643] VAR_068102 commonName VAR_068102 VAR_068102 disease phenotype-associated VAR_068102 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A7 (MDDGA7) [MIM:614643] VAR_068103 commonName VAR_068103 VAR_068103 disease phenotype-associated VAR_068103 phenoCommon Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A7 (MDDGA7) [MIM:614643] VAR_068104 commonName VAR_068104 VAR_068105 commonName VAR_068105 VAR_068106 commonName VAR_068106 VAR_068106 disease not phenotype-associated VAR_068107 commonName VAR_068107 VAR_068107 disease not phenotype-associated VAR_068108 commonName VAR_068108 VAR_068109 commonName VAR_068109 VAR_068109 disease not phenotype-associated VAR_068110 commonName VAR_068110 VAR_068110 disease not phenotype-associated VAR_068111 commonName VAR_068111 VAR_068111 disease not phenotype-associated VAR_068112 commonName VAR_068112 VAR_068113 commonName VAR_068113 VAR_068113 disease not phenotype-associated VAR_068114 commonName VAR_068114 VAR_068115 commonName VAR_068115 VAR_068116 commonName VAR_068116 VAR_068116 disease not phenotype-associated VAR_068117 commonName VAR_068117 VAR_068117 disease phenotype-associated VAR_068117 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800] VAR_068118 commonName VAR_068118 VAR_068119 commonName VAR_068119 VAR_068120 commonName VAR_068120 VAR_068121 commonName VAR_068121 VAR_068122 commonName VAR_068122 VAR_068123 commonName VAR_068123 VAR_068124 commonName VAR_068124 VAR_068124 disease phenotype-associated VAR_068124 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800] VAR_068125 commonName VAR_068125 VAR_068126 commonName VAR_068126 VAR_068127 commonName VAR_068127 VAR_068128 commonName VAR_068128 VAR_068129 commonName VAR_068129 VAR_068129 disease phenotype-associated VAR_068129 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800] VAR_068130 commonName VAR_068130 VAR_068131 commonName VAR_068131 VAR_068132 commonName VAR_068132 VAR_068133 commonName VAR_068133 VAR_068134 commonName VAR_068134 VAR_068134 disease phenotype-associated VAR_068134 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800] VAR_068135 commonName VAR_068135 VAR_068135 disease phenotype-associated VAR_068135 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800] VAR_068136 commonName VAR_068136 VAR_068137 commonName VAR_068137 VAR_068137 disease phenotype-associated VAR_068137 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800] VAR_068138 commonName VAR_068138 VAR_068139 commonName VAR_068139 VAR_068140 commonName VAR_068140 VAR_068141 commonName VAR_068141 VAR_068141 disease phenotype-associated VAR_068141 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800] VAR_068142 commonName VAR_068142 VAR_068143 commonName VAR_068143 VAR_068144 commonName VAR_068144 VAR_068144 disease phenotype-associated VAR_068144 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800] VAR_068145 commonName VAR_068145 VAR_068145 disease phenotype-associated VAR_068145 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800] VAR_068146 commonName VAR_068146 VAR_068146 disease not phenotype-associated VAR_068147 commonName VAR_068147 VAR_068147 disease not phenotype-associated VAR_068148 commonName VAR_068148 VAR_068149 commonName VAR_068149 VAR_068149 disease not phenotype-associated VAR_068150 commonName VAR_068150 VAR_068150 disease phenotype-associated VAR_068150 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800] VAR_068151 commonName VAR_068151 VAR_068152 commonName VAR_068152 VAR_068152 disease not phenotype-associated VAR_068153 commonName VAR_068153 VAR_068153 disease not phenotype-associated VAR_068154 commonName VAR_068154 VAR_068155 commonName VAR_068155 VAR_068156 commonName VAR_068156 VAR_068157 commonName VAR_068157 VAR_068157 disease not phenotype-associated VAR_068158 commonName VAR_068158 VAR_068158 disease not phenotype-associated VAR_068159 commonName VAR_068159 VAR_068160 commonName VAR_068160 VAR_068160 disease not phenotype-associated VAR_068161 commonName VAR_068161 VAR_068161 disease phenotype-associated VAR_068161 phenoCommon Coenzyme Q10 deficiency, primary, type 1 (COQ10D1) [MIM:607426] VAR_068162 commonName VAR_068162 VAR_068162 disease phenotype-associated VAR_068162 phenoCommon Coenzyme Q10 deficiency, primary, type 1 (COQ10D1) [MIM:607426] VAR_068163 commonName VAR_068163 VAR_068163 disease phenotype-associated VAR_068163 phenoCommon Coenzyme Q10 deficiency, primary, type 1 (COQ10D1) [MIM:607426] VAR_068164 commonName VAR_068164 VAR_068164 disease not phenotype-associated VAR_068165 commonName VAR_068165 VAR_068165 disease phenotype-associated VAR_068165 phenoCommon Joubert syndrome type 17 (JBTS17) [MIM:614615] VAR_068168 commonName VAR_068168 VAR_068168 disease phenotype-associated VAR_068168 phenoCommon Joubert syndrome type 5 (JBTS5) [MIM:610188] VAR_068169 commonName VAR_068169 VAR_068169 disease phenotype-associated VAR_068169 phenoCommon Joubert syndrome type 9 (JBTS9) [MIM:612285] VAR_068172 commonName VAR_068172 VAR_068172 disease phenotype-associated VAR_068172 phenoCommon Joubert syndrome (JBTS) [MIM:213300] VAR_068173 commonName VAR_068173 VAR_068173 disease not phenotype-associated VAR_068174 commonName VAR_068174 VAR_068174 disease phenotype-associated VAR_068174 phenoCommon Meconium ileus (MECIL) [MIM:614665] VAR_068175 commonName VAR_068175 VAR_068175 disease phenotype-associated VAR_068175 phenoCommon Megalocornea type 1, X-linked (MGC1) [MIM:309300] VAR_068176 commonName VAR_068176 VAR_068176 disease not phenotype-associated VAR_068180 commonName VAR_068180 VAR_068180 disease phenotype-associated VAR_068180 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] VAR_068181 commonName VAR_068181 VAR_068181 disease phenotype-associated VAR_068181 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] VAR_068182 commonName VAR_068182 VAR_068182 disease phenotype-associated VAR_068182 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] VAR_068183 commonName VAR_068183 VAR_068183 disease phenotype-associated VAR_068183 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] VAR_068184 commonName VAR_068184 VAR_068184 disease phenotype-associated VAR_068184 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] VAR_068185 commonName VAR_068185 VAR_068185 disease phenotype-associated VAR_068185 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] VAR_068186 commonName VAR_068186 VAR_068186 disease phenotype-associated VAR_068186 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] VAR_068187 commonName VAR_068187 VAR_068187 disease phenotype-associated VAR_068187 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] VAR_068188 commonName VAR_068188 VAR_068188 disease phenotype-associated VAR_068188 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] VAR_068189 commonName VAR_068189 VAR_068189 disease phenotype-associated VAR_068189 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] VAR_068190 commonName VAR_068190 VAR_068190 disease phenotype-associated VAR_068190 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] VAR_068191 commonName VAR_068191 VAR_068191 disease phenotype-associated VAR_068191 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] VAR_068192 commonName VAR_068192 VAR_068192 disease phenotype-associated VAR_068192 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] VAR_068193 commonName VAR_068193 VAR_068193 disease phenotype-associated VAR_068193 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] VAR_068194 commonName VAR_068194 VAR_068194 disease phenotype-associated VAR_068194 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] VAR_068195 commonName VAR_068195 VAR_068195 disease phenotype-associated VAR_068195 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] VAR_068196 commonName VAR_068196 VAR_068196 disease phenotype-associated VAR_068196 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] VAR_068197 commonName VAR_068197 VAR_068197 disease phenotype-associated VAR_068197 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] VAR_068198 commonName VAR_068198 VAR_068198 disease phenotype-associated VAR_068198 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] VAR_068199 commonName VAR_068199 VAR_068199 disease phenotype-associated VAR_068199 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] VAR_068200 commonName VAR_068200 VAR_068200 disease phenotype-associated VAR_068200 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] VAR_068201 commonName VAR_068201 VAR_068201 disease phenotype-associated VAR_068201 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] VAR_068202 commonName VAR_068202 VAR_068202 disease phenotype-associated VAR_068202 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] VAR_068203 commonName VAR_068203 VAR_068203 disease phenotype-associated VAR_068203 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] VAR_068204 commonName VAR_068204 VAR_068204 disease phenotype-associated VAR_068204 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] VAR_068205 commonName VAR_068205 VAR_068205 disease phenotype-associated VAR_068205 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] VAR_068206 commonName VAR_068206 VAR_068206 disease phenotype-associated VAR_068206 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] VAR_068207 commonName VAR_068207 VAR_068207 disease phenotype-associated VAR_068207 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] VAR_068208 commonName VAR_068208 VAR_068208 disease phenotype-associated VAR_068208 phenoCommon Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358] VAR_068210 commonName VAR_068210 VAR_068210 disease phenotype-associated VAR_068210 phenoCommon Mental retardation autosomal dominant type 16 (MRD16) [MIM:614609] VAR_068211 commonName VAR_068211 VAR_068211 disease phenotype-associated VAR_068211 phenoCommon Mental retardation autosomal dominant type 16 (MRD16) [MIM:614609] VAR_068212 commonName VAR_068212 VAR_068212 disease phenotype-associated VAR_068212 phenoCommon Mental retardation autosomal dominant type 16 (MRD16) [MIM:614609] VAR_068213 commonName VAR_068213 VAR_068213 disease phenotype-associated VAR_068213 phenoCommon Mental retardation autosomal dominant type 16 (MRD16) [MIM:614609] VAR_068214 commonName VAR_068214 VAR_068214 disease phenotype-associated VAR_068214 phenoCommon Mental retardation autosomal dominant type 16 (MRD16) [MIM:614609] VAR_068215 commonName VAR_068215 VAR_068215 disease phenotype-associated VAR_068216 commonName VAR_068216 VAR_068216 disease phenotype-associated VAR_068216 phenoCommon Coenzyme Q10 deficiency, primary, type 6 (COQ10D6) [MIM:614650] VAR_068217 commonName VAR_068217 VAR_068217 disease not phenotype-associated VAR_068218 commonName VAR_068218 VAR_068218 disease phenotype-associated VAR_068218 phenoCommon Coenzyme Q10 deficiency, primary, type 6 (COQ10D6) [MIM:614650] VAR_068219 commonName VAR_068219 VAR_068219 disease phenotype-associated VAR_068219 phenoCommon Ataxia, sensory, type 1, autosomal dominant (SNAX1) [MIM:608984] VAR_068221 commonName VAR_068221 VAR_068221 disease phenotype-associated VAR_068221 phenoCommon Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation and ear anomalies syndrome (CHIME) [MIM:280000] VAR_068222 commonName VAR_068222 VAR_068222 disease not phenotype-associated VAR_068223 commonName VAR_068223 VAR_068223 disease not phenotype-associated VAR_068224 commonName VAR_068224 VAR_068224 disease phenotype-associated VAR_068224 phenoCommon Psoriasis type 2 (PSORS2) [MIM:602723] VAR_068225 commonName VAR_068225 VAR_068225 disease phenotype-associated VAR_068225 phenoCommon Psoriasis type 2 (PSORS2) [MIM:602723] VAR_068226 commonName VAR_068226 VAR_068226 disease phenotype-associated VAR_068226 phenoCommon Psoriasis type 2 (PSORS2) [MIM:602723] VAR_068227 commonName VAR_068227 VAR_068227 disease phenotype-associated VAR_068227 phenoCommon Psoriasis type 2 (PSORS2) [MIM:602723] VAR_068228 commonName VAR_068228 VAR_068228 disease not phenotype-associated VAR_068229 commonName VAR_068229 VAR_068230 commonName VAR_068230 VAR_068230 disease not phenotype-associated VAR_068231 commonName VAR_068231 VAR_068231 disease not phenotype-associated VAR_068232 commonName VAR_068232 VAR_068232 disease not phenotype-associated VAR_068233 commonName VAR_068233 VAR_068233 disease not phenotype-associated VAR_068234 commonName VAR_068234 VAR_068235 commonName VAR_068235 VAR_068235 disease not phenotype-associated VAR_068236 commonName VAR_068236 VAR_068236 disease not phenotype-associated VAR_068237 commonName VAR_068237 VAR_068237 disease not phenotype-associated VAR_068239 commonName VAR_068239 VAR_068239 disease not phenotype-associated VAR_068240 commonName VAR_068240 VAR_068240 disease phenotype-associated VAR_068240 phenoCommon Congenital disorder of glycosylation type 2L (CDG2L) [MIM:614576] VAR_068241 commonName VAR_068241 VAR_068241 disease phenotype-associated VAR_068241 phenoCommon Acrodysostosis type 1, with or without hormone resistance (ACRDYS1) [MIM:101800] VAR_068242 commonName VAR_068242 VAR_068242 disease phenotype-associated VAR_068242 phenoCommon Acrodysostosis type 2, with or without hormone resistance (ACRDYS2) [MIM:614613] VAR_068243 commonName VAR_068243 VAR_068243 disease phenotype-associated VAR_068243 phenoCommon Acrodysostosis type 2, with or without hormone resistance (ACRDYS2) [MIM:614613] VAR_068244 commonName VAR_068244 VAR_068244 disease phenotype-associated VAR_068244 phenoCommon Acrodysostosis type 2, with or without hormone resistance (ACRDYS2) [MIM:614613] VAR_068246 commonName VAR_068246 VAR_068246 disease phenotype-associated VAR_068246 phenoCommon Hyperekplexia type 2 (HKPX2) [MIM:614619] VAR_068247 commonName VAR_068247 VAR_068248 commonName VAR_068248 VAR_068249 commonName VAR_068249 VAR_068249 disease phenotype-associated VAR_068249 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_068250 commonName VAR_068250 VAR_068250 disease phenotype-associated VAR_068250 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_068251 commonName VAR_068251 VAR_068251 disease phenotype-associated VAR_068251 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_068252 commonName VAR_068252 VAR_068252 disease phenotype-associated VAR_068252 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_068253 commonName VAR_068253 VAR_068253 disease phenotype-associated VAR_068253 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_068254 commonName VAR_068254 VAR_068254 disease phenotype-associated VAR_068254 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_068255 commonName VAR_068255 VAR_068255 disease phenotype-associated VAR_068255 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_068256 commonName VAR_068256 VAR_068256 disease phenotype-associated VAR_068256 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_068257 commonName VAR_068257 VAR_068257 disease phenotype-associated VAR_068257 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_068258 commonName VAR_068258 VAR_068258 disease phenotype-associated VAR_068258 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_068259 commonName VAR_068259 VAR_068259 disease phenotype-associated VAR_068259 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_068260 commonName VAR_068260 VAR_068260 disease phenotype-associated VAR_068260 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_068261 commonName VAR_068261 VAR_068261 disease phenotype-associated VAR_068261 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_068262 commonName VAR_068262 VAR_068262 disease phenotype-associated VAR_068262 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_068264 commonName VAR_068264 VAR_068264 disease phenotype-associated VAR_068264 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_068265 commonName VAR_068265 VAR_068265 disease phenotype-associated VAR_068265 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_068266 commonName VAR_068266 VAR_068266 disease phenotype-associated VAR_068266 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_068267 commonName VAR_068267 VAR_068267 disease phenotype-associated VAR_068267 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_068268 commonName VAR_068268 VAR_068268 disease phenotype-associated VAR_068268 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_068269 commonName VAR_068269 VAR_068269 disease phenotype-associated VAR_068269 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_068270 commonName VAR_068270 VAR_068270 disease phenotype-associated VAR_068270 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_068271 commonName VAR_068271 VAR_068271 disease phenotype-associated VAR_068271 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_068272 commonName VAR_068272 VAR_068272 disease phenotype-associated VAR_068272 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_068273 commonName VAR_068273 VAR_068273 disease phenotype-associated VAR_068273 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_068275 commonName VAR_068275 VAR_068275 disease phenotype-associated VAR_068275 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_068276 commonName VAR_068276 VAR_068276 disease phenotype-associated VAR_068276 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_068277 commonName VAR_068277 VAR_068277 disease phenotype-associated VAR_068277 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_068278 commonName VAR_068278 VAR_068278 disease phenotype-associated VAR_068278 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_068279 commonName VAR_068279 VAR_068279 disease phenotype-associated VAR_068279 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_068280 commonName VAR_068280 VAR_068280 disease phenotype-associated VAR_068280 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_068281 commonName VAR_068281 VAR_068281 disease phenotype-associated VAR_068281 phenoCommon Long QT syndrome type 2 (LQT2) [MIM:613688] VAR_068287 commonName VAR_068287 VAR_068287 disease phenotype-associated VAR_068287 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_068288 commonName VAR_068288 VAR_068288 disease phenotype-associated VAR_068288 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_068289 commonName VAR_068289 VAR_068289 disease phenotype-associated VAR_068289 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_068290 commonName VAR_068290 VAR_068290 disease phenotype-associated VAR_068290 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_068291 commonName VAR_068291 VAR_068291 disease phenotype-associated VAR_068291 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_068292 commonName VAR_068292 VAR_068292 disease phenotype-associated VAR_068292 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_068293 commonName VAR_068293 VAR_068293 disease phenotype-associated VAR_068293 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_068295 commonName VAR_068295 VAR_068295 disease phenotype-associated VAR_068295 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_068296 commonName VAR_068296 VAR_068296 disease phenotype-associated VAR_068296 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_068297 commonName VAR_068297 VAR_068297 disease phenotype-associated VAR_068297 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_068299 commonName VAR_068299 VAR_068299 disease phenotype-associated VAR_068299 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_068300 commonName VAR_068300 VAR_068300 disease phenotype-associated VAR_068300 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_068301 commonName VAR_068301 VAR_068301 disease phenotype-associated VAR_068301 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_068302 commonName VAR_068302 VAR_068302 disease phenotype-associated VAR_068302 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_068303 commonName VAR_068303 VAR_068303 disease phenotype-associated VAR_068303 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_068304 commonName VAR_068304 VAR_068304 disease phenotype-associated VAR_068304 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_068305 commonName VAR_068305 VAR_068305 disease phenotype-associated VAR_068305 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_068306 commonName VAR_068306 VAR_068306 disease phenotype-associated VAR_068306 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_068307 commonName VAR_068307 VAR_068307 disease phenotype-associated VAR_068307 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_068308 commonName VAR_068308 VAR_068308 disease phenotype-associated VAR_068308 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_068309 commonName VAR_068309 VAR_068309 disease phenotype-associated VAR_068309 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_068310 commonName VAR_068310 VAR_068310 disease phenotype-associated VAR_068310 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_068311 commonName VAR_068311 VAR_068311 disease phenotype-associated VAR_068311 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_068312 commonName VAR_068312 VAR_068312 disease phenotype-associated VAR_068312 phenoCommon Long QT syndrome type 1 (LQT1) [MIM:192500] VAR_068325 commonName VAR_068325 VAR_068325 disease phenotype-associated VAR_068325 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_068326 commonName VAR_068326 VAR_068326 disease phenotype-associated VAR_068326 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_068327 commonName VAR_068327 VAR_068327 disease phenotype-associated VAR_068327 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_068328 commonName VAR_068328 VAR_068328 disease phenotype-associated VAR_068328 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_068329 commonName VAR_068329 VAR_068329 disease phenotype-associated VAR_068329 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_068330 commonName VAR_068330 VAR_068330 disease phenotype-associated VAR_068330 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_068331 commonName VAR_068331 VAR_068331 disease phenotype-associated VAR_068331 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_068332 commonName VAR_068332 VAR_068332 disease phenotype-associated VAR_068332 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_068333 commonName VAR_068333 VAR_068333 disease phenotype-associated VAR_068333 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_068334 commonName VAR_068334 VAR_068334 disease phenotype-associated VAR_068334 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_068335 commonName VAR_068335 VAR_068335 disease phenotype-associated VAR_068335 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_068336 commonName VAR_068336 VAR_068336 disease phenotype-associated VAR_068336 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_068337 commonName VAR_068337 VAR_068337 disease phenotype-associated VAR_068337 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_068338 commonName VAR_068338 VAR_068338 disease phenotype-associated VAR_068338 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_068339 commonName VAR_068339 VAR_068339 disease phenotype-associated VAR_068339 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_068340 commonName VAR_068340 VAR_068340 disease phenotype-associated VAR_068340 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_068341 commonName VAR_068341 VAR_068341 disease phenotype-associated VAR_068341 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_068342 commonName VAR_068342 VAR_068342 disease phenotype-associated VAR_068342 phenoCommon Long QT syndrome type 3 (LQT3) [MIM:603830] VAR_068343 commonName VAR_068343 VAR_068343 disease phenotype-associated VAR_068343 phenoCommon Wolfram syndrome type 1 (WFS1) [MIM:222300] VAR_068348 commonName VAR_068348 VAR_068348 disease phenotype-associated VAR_068348 phenoCommon Maple syrup urine disease type IB (MSUD1B) [MIM:248600] VAR_068349 commonName VAR_068349 VAR_068349 disease phenotype-associated VAR_068349 phenoCommon Maple syrup urine disease type IB (MSUD1B) [MIM:248600] VAR_068351 commonName VAR_068351 VAR_068351 disease phenotype-associated VAR_068351 phenoCommon Retinitis pigmentosa type 1 (RP1) [MIM:180100] VAR_068353 commonName VAR_068353 VAR_068353 disease phenotype-associated VAR_068353 phenoCommon Retinitis pigmentosa type 2 (RP2) [MIM:312600] VAR_068354 commonName VAR_068354 VAR_068354 disease phenotype-associated VAR_068354 phenoCommon Retinitis pigmentosa type 39 (RP39) [MIM:613809] VAR_068355 commonName VAR_068355 VAR_068355 disease phenotype-associated VAR_068355 phenoCommon Retinitis pigmentosa type 39 (RP39) [MIM:613809] VAR_068356 commonName VAR_068356 VAR_068356 disease phenotype-associated VAR_068356 phenoCommon Retinitis pigmentosa type 39 (RP39) [MIM:613809] VAR_068357 commonName VAR_068357 VAR_068357 disease phenotype-associated VAR_068357 phenoCommon Retinitis pigmentosa type 39 (RP39) [MIM:613809] VAR_068358 commonName VAR_068358 VAR_068358 disease phenotype-associated VAR_068358 phenoCommon Retinitis pigmentosa type 39 (RP39) [MIM:613809] VAR_068359 commonName VAR_068359 VAR_068359 disease phenotype-associated VAR_068359 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_068360 commonName VAR_068360 VAR_068360 disease phenotype-associated VAR_068360 phenoCommon Retinitis pigmentosa type 4 (RP4) [MIM:613731] VAR_068361 commonName VAR_068361 VAR_068361 disease phenotype-associated VAR_068361 phenoCommon Retinitis pigmentosa type 40 (RP40) [MIM:613801] VAR_068362 commonName VAR_068362 VAR_068362 disease phenotype-associated VAR_068362 phenoCommon Retinitis pigmentosa type 40 (RP40) [MIM:613801] VAR_068363 commonName VAR_068363 VAR_068363 disease phenotype-associated VAR_068363 phenoCommon Retinitis pigmentosa type 12 (RP12) [MIM:600105] VAR_068364 commonName VAR_068364 VAR_068364 disease phenotype-associated VAR_068364 phenoCommon Retinitis pigmentosa type 27 (RP27) [MIM:613750] VAR_068365 commonName VAR_068365 VAR_068365 disease phenotype-associated VAR_068365 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150] VAR_068366 commonName VAR_068366 VAR_068366 disease phenotype-associated VAR_068366 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150] VAR_068367 commonName VAR_068367 VAR_068367 disease phenotype-associated VAR_068367 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150] VAR_068368 commonName VAR_068368 VAR_068368 disease phenotype-associated VAR_068368 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150] VAR_068369 commonName VAR_068369 VAR_068369 disease phenotype-associated VAR_068369 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150] VAR_068370 commonName VAR_068370 VAR_068370 disease phenotype-associated VAR_068370 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150] VAR_068371 commonName VAR_068371 VAR_068371 disease phenotype-associated VAR_068371 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150] VAR_068372 commonName VAR_068372 VAR_068372 disease phenotype-associated VAR_068372 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150] VAR_068373 commonName VAR_068373 VAR_068373 disease phenotype-associated VAR_068373 phenoCommon Centronuclear myopathy type 1 (CNM1) [MIM:160150] VAR_068374 commonName VAR_068374 VAR_068374 disease not phenotype-associated VAR_068375 commonName VAR_068375 VAR_068376 commonName VAR_068376 VAR_068376 disease not phenotype-associated VAR_068377 commonName VAR_068377 VAR_068378 commonName VAR_068378 VAR_068378 disease not phenotype-associated VAR_068379 commonName VAR_068379 VAR_068379 disease not phenotype-associated VAR_068380 commonName VAR_068380 VAR_068381 commonName VAR_068381 VAR_068381 disease not phenotype-associated VAR_068382 commonName VAR_068382 VAR_068383 commonName VAR_068383 VAR_068383 disease not phenotype-associated VAR_068384 commonName VAR_068384 VAR_068384 disease not phenotype-associated VAR_068385 commonName VAR_068385 VAR_068386 commonName VAR_068386 VAR_068386 disease not phenotype-associated VAR_068387 commonName VAR_068387 VAR_068387 disease phenotype-associated VAR_068387 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800] VAR_068388 commonName VAR_068388 VAR_068389 commonName VAR_068389 VAR_068390 commonName VAR_068390 VAR_068390 disease phenotype-associated VAR_068390 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800] VAR_068391 commonName VAR_068391 VAR_068392 commonName VAR_068392 VAR_068392 disease phenotype-associated VAR_068392 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800] VAR_068393 commonName VAR_068393 VAR_068393 disease phenotype-associated VAR_068393 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800] VAR_068394 commonName VAR_068394 VAR_068395 commonName VAR_068395 VAR_068395 disease phenotype-associated VAR_068395 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800] VAR_068396 commonName VAR_068396 VAR_068397 commonName VAR_068397 VAR_068397 disease phenotype-associated VAR_068397 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800] VAR_068398 commonName VAR_068398 VAR_068398 disease phenotype-associated VAR_068398 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800] VAR_068399 commonName VAR_068399 VAR_068399 disease not phenotype-associated VAR_068400 commonName VAR_068400 VAR_068401 commonName VAR_068401 VAR_068402 commonName VAR_068402 VAR_068402 disease not phenotype-associated VAR_068403 commonName VAR_068403 VAR_068403 disease phenotype-associated VAR_068403 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800] VAR_068404 commonName VAR_068404 VAR_068404 disease phenotype-associated VAR_068404 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800] VAR_068405 commonName VAR_068405 VAR_068405 disease phenotype-associated VAR_068405 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800] VAR_068406 commonName VAR_068406 VAR_068406 disease not phenotype-associated VAR_068407 commonName VAR_068407 VAR_068407 disease not phenotype-associated VAR_068408 commonName VAR_068408 VAR_068409 commonName VAR_068409 VAR_068409 disease phenotype-associated VAR_068409 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800] VAR_068410 commonName VAR_068410 VAR_068411 commonName VAR_068411 VAR_068411 disease not phenotype-associated VAR_068412 commonName VAR_068412 VAR_068412 disease not phenotype-associated VAR_068413 commonName VAR_068413 VAR_068413 disease not phenotype-associated VAR_068414 commonName VAR_068414 VAR_068415 commonName VAR_068415 VAR_068415 disease phenotype-associated VAR_068415 phenoCommon CHARGE syndrome (CHARGES) [MIM:214800] VAR_068416 commonName VAR_068416 VAR_068417 commonName VAR_068417 VAR_068418 commonName VAR_068418 VAR_068418 disease not phenotype-associated VAR_068419 commonName VAR_068419 VAR_068420 commonName VAR_068420 VAR_068420 disease not phenotype-associated VAR_068421 commonName VAR_068421 VAR_068421 disease not phenotype-associated VAR_068422 commonName VAR_068422 VAR_068422 disease not phenotype-associated VAR_068423 commonName VAR_068423 VAR_068423 disease not phenotype-associated VAR_068424 commonName VAR_068424 VAR_068424 disease phenotype-associated VAR_068425 commonName VAR_068425 VAR_068425 disease phenotype-associated VAR_068425 phenoCommon Charcot-Marie-Tooth disease type 2M (CMT2M) [MIM:606482] VAR_068426 commonName VAR_068426 VAR_068426 disease phenotype-associated VAR_068426 phenoCommon Seizures, benign familial infantile type 2 (BFIS2) [MIM:605751] VAR_068427 commonName VAR_068427 VAR_068428 commonName VAR_068428 VAR_068429 commonName VAR_068429 VAR_068429 disease phenotype-associated VAR_068429 phenoCommon Neural tube defects (NTD) [MIM:182940] VAR_068434 commonName VAR_068434 VAR_068434 disease phenotype-associated VAR_068434 phenoCommon Barth syndrome (BTHS) [MIM:302060] VAR_068446 commonName VAR_068446 VAR_068446 disease phenotype-associated VAR_068446 phenoCommon Congenital disorder of glycosylation type 2K (CDG2K) [MIM:614727] VAR_068447 commonName VAR_068447 VAR_068447 disease phenotype-associated VAR_068447 phenoCommon Congenital disorder of glycosylation type 2K (CDG2K) [MIM:614727] VAR_068448 commonName VAR_068448 VAR_068448 disease phenotype-associated VAR_068448 phenoCommon Congenital disorder of glycosylation type 2K (CDG2K) [MIM:614727] VAR_068449 commonName VAR_068449 VAR_068449 disease phenotype-associated VAR_068449 phenoCommon Primary ciliary dyskinesia type 17 (CILD17) [MIM:614679] VAR_068450 commonName VAR_068450 VAR_068450 disease phenotype-associated VAR_068450 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_068451 commonName VAR_068451 VAR_068451 disease phenotype-associated VAR_068451 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_068452 commonName VAR_068452 VAR_068452 disease phenotype-associated VAR_068452 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_068453 commonName VAR_068453 VAR_068453 disease phenotype-associated VAR_068453 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_068454 commonName VAR_068454 VAR_068454 disease phenotype-associated VAR_068454 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_068455 commonName VAR_068455 VAR_068455 disease phenotype-associated VAR_068455 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_068456 commonName VAR_068456 VAR_068456 disease phenotype-associated VAR_068456 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_068457 commonName VAR_068457 VAR_068457 disease phenotype-associated VAR_068457 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_068458 commonName VAR_068458 VAR_068458 disease phenotype-associated VAR_068458 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_068459 commonName VAR_068459 VAR_068459 disease phenotype-associated VAR_068459 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_068460 commonName VAR_068460 VAR_068460 disease phenotype-associated VAR_068460 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_068461 commonName VAR_068461 VAR_068461 disease phenotype-associated VAR_068461 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_068462 commonName VAR_068462 VAR_068462 disease phenotype-associated VAR_068462 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_068463 commonName VAR_068463 VAR_068463 disease phenotype-associated VAR_068463 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_068464 commonName VAR_068464 VAR_068464 disease phenotype-associated VAR_068464 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_068465 commonName VAR_068465 VAR_068465 disease phenotype-associated VAR_068465 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_068466 commonName VAR_068466 VAR_068466 disease phenotype-associated VAR_068466 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_068467 commonName VAR_068467 VAR_068467 disease phenotype-associated VAR_068467 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_068468 commonName VAR_068468 VAR_068468 disease phenotype-associated VAR_068468 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_068470 commonName VAR_068470 VAR_068470 disease phenotype-associated VAR_068470 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_068471 commonName VAR_068471 VAR_068471 disease phenotype-associated VAR_068471 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_068472 commonName VAR_068472 VAR_068472 disease phenotype-associated VAR_068472 phenoCommon Leukodystrophy with vanishing white matter (VWM) [MIM:603896] VAR_068473 commonName VAR_068473 VAR_068473 disease phenotype-associated VAR_068473 phenoCommon Currarino syndrome (CURRAS) [MIM:176450] VAR_068475 commonName VAR_068475 VAR_068475 disease phenotype-associated VAR_068475 phenoCommon Sick sinus syndrome type 1 (SSS1) [MIM:608567] VAR_068477 commonName VAR_068477 VAR_068479 commonName VAR_068479 VAR_068480 commonName VAR_068480 VAR_068480 disease not phenotype-associated VAR_068481 commonName VAR_068481 VAR_068481 disease phenotype-associated VAR_068481 phenoCommon Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] VAR_068482 commonName VAR_068482 VAR_068482 disease phenotype-associated VAR_068482 phenoCommon Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] VAR_068483 commonName VAR_068483 VAR_068483 disease phenotype-associated VAR_068483 phenoCommon Hamamy syndrome (HMMS) [MIM:611174] VAR_068484 commonName VAR_068484 VAR_068484 disease phenotype-associated VAR_068484 phenoCommon Hamamy syndrome (HMMS) [MIM:611174] VAR_068485 commonName VAR_068485 VAR_068485 disease phenotype-associated VAR_068485 phenoCommon Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] VAR_068486 commonName VAR_068486 VAR_068486 disease phenotype-associated VAR_068486 phenoCommon Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] VAR_068487 commonName VAR_068487 VAR_068487 disease phenotype-associated VAR_068487 phenoCommon Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] VAR_068488 commonName VAR_068488 VAR_068488 disease phenotype-associated VAR_068488 phenoCommon Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] VAR_068489 commonName VAR_068489 VAR_068489 disease phenotype-associated VAR_068489 phenoCommon Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] VAR_068490 commonName VAR_068490 VAR_068490 disease phenotype-associated VAR_068490 phenoCommon Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] VAR_068491 commonName VAR_068491 VAR_068491 disease phenotype-associated VAR_068491 phenoCommon Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] VAR_068492 commonName VAR_068492 VAR_068492 disease phenotype-associated VAR_068492 phenoCommon Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] VAR_068493 commonName VAR_068493 VAR_068493 disease phenotype-associated VAR_068493 phenoCommon Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] VAR_068494 commonName VAR_068494 VAR_068494 disease phenotype-associated VAR_068494 phenoCommon Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] VAR_068495 commonName VAR_068495 VAR_068495 disease phenotype-associated VAR_068495 phenoCommon Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] VAR_068496 commonName VAR_068496 VAR_068496 disease phenotype-associated VAR_068496 phenoCommon Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] VAR_068497 commonName VAR_068497 VAR_068497 disease phenotype-associated VAR_068497 phenoCommon Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] VAR_068498 commonName VAR_068498 VAR_068498 disease phenotype-associated VAR_068498 phenoCommon Digital arthropathy-brachydactyly, familial (FDAB) [MIM:606835] VAR_068499 commonName VAR_068499 VAR_068499 disease phenotype-associated VAR_068499 phenoCommon Digital arthropathy-brachydactyly, familial (FDAB) [MIM:606835] VAR_068500 commonName VAR_068500 VAR_068500 disease phenotype-associated VAR_068500 phenoCommon Digital arthropathy-brachydactyly, familial (FDAB) [MIM:606835] VAR_068501 commonName VAR_068501 VAR_068501 disease phenotype-associated VAR_068503 commonName VAR_068503 VAR_068503 disease phenotype-associated VAR_068504 commonName VAR_068504 VAR_068504 disease phenotype-associated VAR_068505 commonName VAR_068505 VAR_068505 disease phenotype-associated VAR_068505 phenoCommon Pontocerebellar hypoplasia type 1B (PCH1B) [MIM:614678] VAR_068506 commonName VAR_068506 VAR_068506 disease phenotype-associated VAR_068506 phenoCommon Pontocerebellar hypoplasia type 1B (PCH1B) [MIM:614678] VAR_068507 commonName VAR_068507 VAR_068507 disease phenotype-associated VAR_068507 phenoCommon Pontocerebellar hypoplasia type 1B (PCH1B) [MIM:614678] VAR_068508 commonName VAR_068508 VAR_068508 disease phenotype-associated VAR_068508 phenoCommon Pontocerebellar hypoplasia type 1B (PCH1B) [MIM:614678] VAR_068509 commonName VAR_068509 VAR_068509 disease phenotype-associated VAR_068509 phenoCommon Colorectal cancer type 1 (CRCS1) [MIM:608812] VAR_068510 commonName VAR_068510 VAR_068510 disease phenotype-associated VAR_068510 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_068511 commonName VAR_068511 VAR_068511 disease phenotype-associated VAR_068511 phenoCommon Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600] VAR_068512 commonName VAR_068512 VAR_068512 disease phenotype-associated VAR_068513 commonName VAR_068513 VAR_068513 disease not phenotype-associated VAR_068514 commonName VAR_068514 VAR_068514 disease not phenotype-associated VAR_068515 commonName VAR_068515 VAR_068515 disease phenotype-associated VAR_068515 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_068516 commonName VAR_068516 VAR_068516 disease phenotype-associated VAR_068516 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_068517 commonName VAR_068517 VAR_068517 disease phenotype-associated VAR_068517 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_068518 commonName VAR_068518 VAR_068518 disease phenotype-associated VAR_068518 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_068519 commonName VAR_068519 VAR_068519 disease not phenotype-associated VAR_068520 commonName VAR_068520 VAR_068520 disease phenotype-associated VAR_068520 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_068521 commonName VAR_068521 VAR_068521 disease phenotype-associated VAR_068521 phenoCommon Central core disease of muscle (CCD) [MIM:117000] VAR_068522 commonName VAR_068522 VAR_068522 disease phenotype-associated VAR_068522 phenoCommon Bone marrow failure, familial (BMFF) [MIM:614675] VAR_068523 commonName VAR_068523 VAR_068523 disease phenotype-associated VAR_068523 phenoCommon Mainzer-Saldino syndrome (MZSDS) [MIM:266920] VAR_068524 commonName VAR_068524 VAR_068524 disease phenotype-associated VAR_068524 phenoCommon Mainzer-Saldino syndrome (MZSDS) [MIM:266920] VAR_068525 commonName VAR_068525 VAR_068525 disease phenotype-associated VAR_068525 phenoCommon Mainzer-Saldino syndrome (MZSDS) [MIM:266920] VAR_068526 commonName VAR_068526 VAR_068526 disease phenotype-associated VAR_068526 phenoCommon Mainzer-Saldino syndrome (MZSDS) [MIM:266920] VAR_068527 commonName VAR_068527 VAR_068527 disease phenotype-associated VAR_068527 phenoCommon Mainzer-Saldino syndrome (MZSDS) [MIM:266920] VAR_068528 commonName VAR_068528 VAR_068528 disease phenotype-associated VAR_068528 phenoCommon Mainzer-Saldino syndrome (MZSDS) [MIM:266920] VAR_068529 commonName VAR_068529 VAR_068529 disease phenotype-associated VAR_068529 phenoCommon Mainzer-Saldino syndrome (MZSDS) [MIM:266920] VAR_068531 commonName VAR_068531 VAR_068531 disease phenotype-associated VAR_068531 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_068532 commonName VAR_068532 VAR_068532 disease phenotype-associated VAR_068532 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_068533 commonName VAR_068533 VAR_068533 disease phenotype-associated VAR_068533 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_068534 commonName VAR_068534 VAR_068534 disease phenotype-associated VAR_068534 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_068535 commonName VAR_068535 VAR_068535 disease phenotype-associated VAR_068535 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_068536 commonName VAR_068536 VAR_068536 disease phenotype-associated VAR_068536 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_068537 commonName VAR_068537 VAR_068537 disease phenotype-associated VAR_068537 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_068538 commonName VAR_068538 VAR_068538 disease phenotype-associated VAR_068538 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_068539 commonName VAR_068539 VAR_068539 disease phenotype-associated VAR_068539 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_068540 commonName VAR_068540 VAR_068540 disease phenotype-associated VAR_068540 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_068541 commonName VAR_068541 VAR_068541 disease phenotype-associated VAR_068541 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_068542 commonName VAR_068542 VAR_068542 disease phenotype-associated VAR_068542 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_068543 commonName VAR_068543 VAR_068543 disease phenotype-associated VAR_068543 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_068544 commonName VAR_068544 VAR_068544 disease phenotype-associated VAR_068544 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_068545 commonName VAR_068545 VAR_068545 disease phenotype-associated VAR_068545 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_068546 commonName VAR_068546 VAR_068546 disease phenotype-associated VAR_068546 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_068547 commonName VAR_068547 VAR_068547 disease phenotype-associated VAR_068547 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_068548 commonName VAR_068548 VAR_068548 disease phenotype-associated VAR_068548 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_068549 commonName VAR_068549 VAR_068549 disease phenotype-associated VAR_068549 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_068550 commonName VAR_068550 VAR_068550 disease phenotype-associated VAR_068550 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_068551 commonName VAR_068551 VAR_068551 disease phenotype-associated VAR_068551 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_068552 commonName VAR_068552 VAR_068552 disease phenotype-associated VAR_068552 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_068553 commonName VAR_068553 VAR_068553 disease phenotype-associated VAR_068553 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_068554 commonName VAR_068554 VAR_068554 disease phenotype-associated VAR_068554 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_068555 commonName VAR_068555 VAR_068555 disease phenotype-associated VAR_068555 phenoCommon Galactosemia (GALCT) [MIM:230400] VAR_068556 commonName VAR_068556 VAR_068556 disease phenotype-associated VAR_068556 phenoCommon Cardiomyopathy, dilated type 2B (CMD2B) [MIM:614672] VAR_068557 commonName VAR_068557 VAR_068557 disease not phenotype-associated VAR_068558 commonName VAR_068558 VAR_068558 disease phenotype-associated VAR_068558 phenoCommon Auriculocondylar syndrome 1 (ARCND1) [MIM:602483] VAR_068559 commonName VAR_068559 VAR_068559 disease phenotype-associated VAR_068559 phenoCommon Auriculocondylar syndrome type 2 (ARCND2) [MIM:614669] VAR_068560 commonName VAR_068560 VAR_068560 disease phenotype-associated VAR_068560 phenoCommon Auriculocondylar syndrome type 2 (ARCND2) [MIM:614669] VAR_068561 commonName VAR_068561 VAR_068561 disease phenotype-associated VAR_068561 phenoCommon Auriculocondylar syndrome type 2 (ARCND2) [MIM:614669] VAR_068562 commonName VAR_068562 VAR_068562 disease phenotype-associated VAR_068562 phenoCommon Auriculocondylar syndrome type 2 (ARCND2) [MIM:614669] VAR_068563 commonName VAR_068563 VAR_068563 disease phenotype-associated VAR_068563 phenoCommon Auriculocondylar syndrome type 2 (ARCND2) [MIM:614669] VAR_068564 commonName VAR_068564 VAR_068564 disease phenotype-associated VAR_068564 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068565 commonName VAR_068565 VAR_068565 disease not phenotype-associated VAR_068566 commonName VAR_068566 VAR_068566 disease not phenotype-associated VAR_068567 commonName VAR_068567 VAR_068567 disease phenotype-associated VAR_068567 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068568 commonName VAR_068568 VAR_068568 disease phenotype-associated VAR_068568 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068569 commonName VAR_068569 VAR_068569 disease phenotype-associated VAR_068569 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068570 commonName VAR_068570 VAR_068570 disease phenotype-associated VAR_068570 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068571 commonName VAR_068571 VAR_068571 disease phenotype-associated VAR_068571 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068572 commonName VAR_068572 VAR_068572 disease not phenotype-associated VAR_068573 commonName VAR_068573 VAR_068573 disease not phenotype-associated VAR_068574 commonName VAR_068574 VAR_068574 disease phenotype-associated VAR_068574 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068575 commonName VAR_068575 VAR_068575 disease phenotype-associated VAR_068575 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068576 commonName VAR_068576 VAR_068576 disease phenotype-associated VAR_068576 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068577 commonName VAR_068577 VAR_068577 disease phenotype-associated VAR_068577 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068578 commonName VAR_068578 VAR_068578 disease phenotype-associated VAR_068578 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068579 commonName VAR_068579 VAR_068579 disease phenotype-associated VAR_068579 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068580 commonName VAR_068580 VAR_068580 disease phenotype-associated VAR_068580 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068581 commonName VAR_068581 VAR_068581 disease not phenotype-associated VAR_068582 commonName VAR_068582 VAR_068582 disease phenotype-associated VAR_068582 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068583 commonName VAR_068583 VAR_068583 disease not phenotype-associated VAR_068584 commonName VAR_068584 VAR_068584 disease phenotype-associated VAR_068584 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068585 commonName VAR_068585 VAR_068585 disease phenotype-associated VAR_068585 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068586 commonName VAR_068586 VAR_068587 commonName VAR_068587 VAR_068587 disease phenotype-associated VAR_068587 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068588 commonName VAR_068588 VAR_068588 disease phenotype-associated VAR_068588 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068589 commonName VAR_068589 VAR_068589 disease phenotype-associated VAR_068589 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068590 commonName VAR_068590 VAR_068590 disease phenotype-associated VAR_068590 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068591 commonName VAR_068591 VAR_068591 disease phenotype-associated VAR_068591 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068592 commonName VAR_068592 VAR_068592 disease not phenotype-associated VAR_068593 commonName VAR_068593 VAR_068594 commonName VAR_068594 VAR_068594 disease phenotype-associated VAR_068594 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068595 commonName VAR_068595 VAR_068595 disease phenotype-associated VAR_068595 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068596 commonName VAR_068596 VAR_068596 disease phenotype-associated VAR_068596 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068597 commonName VAR_068597 VAR_068597 disease not phenotype-associated VAR_068598 commonName VAR_068598 VAR_068598 disease phenotype-associated VAR_068598 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068599 commonName VAR_068599 VAR_068599 disease phenotype-associated VAR_068599 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068600 commonName VAR_068600 VAR_068600 disease phenotype-associated VAR_068600 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068601 commonName VAR_068601 VAR_068601 disease phenotype-associated VAR_068601 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068602 commonName VAR_068602 VAR_068602 disease phenotype-associated VAR_068602 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068603 commonName VAR_068603 VAR_068603 disease phenotype-associated VAR_068603 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068604 commonName VAR_068604 VAR_068604 disease phenotype-associated VAR_068604 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068605 commonName VAR_068605 VAR_068605 disease phenotype-associated VAR_068605 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068606 commonName VAR_068606 VAR_068606 disease phenotype-associated VAR_068606 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068607 commonName VAR_068607 VAR_068607 disease phenotype-associated VAR_068607 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068608 commonName VAR_068608 VAR_068608 disease phenotype-associated VAR_068608 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068609 commonName VAR_068609 VAR_068609 disease phenotype-associated VAR_068609 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068610 commonName VAR_068610 VAR_068610 disease phenotype-associated VAR_068610 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068611 commonName VAR_068611 VAR_068611 disease not phenotype-associated VAR_068612 commonName VAR_068612 VAR_068612 disease phenotype-associated VAR_068612 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068613 commonName VAR_068613 VAR_068613 disease phenotype-associated VAR_068613 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068614 commonName VAR_068614 VAR_068614 disease phenotype-associated VAR_068614 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068615 commonName VAR_068615 VAR_068615 disease phenotype-associated VAR_068615 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068616 commonName VAR_068616 VAR_068616 disease phenotype-associated VAR_068616 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068617 commonName VAR_068617 VAR_068618 commonName VAR_068618 VAR_068618 disease phenotype-associated VAR_068618 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068619 commonName VAR_068619 VAR_068619 disease phenotype-associated VAR_068619 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068620 commonName VAR_068620 VAR_068620 disease phenotype-associated VAR_068620 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068621 commonName VAR_068621 VAR_068621 disease not phenotype-associated VAR_068622 commonName VAR_068622 VAR_068622 disease phenotype-associated VAR_068622 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068623 commonName VAR_068623 VAR_068623 disease phenotype-associated VAR_068623 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068624 commonName VAR_068624 VAR_068624 disease phenotype-associated VAR_068624 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068626 commonName VAR_068626 VAR_068626 disease phenotype-associated VAR_068626 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068627 commonName VAR_068627 VAR_068627 disease not phenotype-associated VAR_068628 commonName VAR_068628 VAR_068628 disease not phenotype-associated VAR_068629 commonName VAR_068629 VAR_068629 disease phenotype-associated VAR_068629 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068630 commonName VAR_068630 VAR_068630 disease phenotype-associated VAR_068630 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068631 commonName VAR_068631 VAR_068631 disease phenotype-associated VAR_068631 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068632 commonName VAR_068632 VAR_068632 disease phenotype-associated VAR_068632 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068633 commonName VAR_068633 VAR_068633 disease phenotype-associated VAR_068633 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068634 commonName VAR_068634 VAR_068634 disease phenotype-associated VAR_068634 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068635 commonName VAR_068635 VAR_068635 disease phenotype-associated VAR_068635 phenoCommon Glycogen storage disease type 2 (GSD2) [MIM:232300] VAR_068636 commonName VAR_068636 VAR_068636 disease phenotype-associated VAR_068636 phenoCommon Hypertrophic osteoarthropathy, primary, autosomal recessive, type 2 (PHOAR2) [MIM:614441] VAR_068637 commonName VAR_068637 VAR_068637 disease phenotype-associated VAR_068637 phenoCommon Hypertrophic osteoarthropathy, primary, autosomal recessive, type 2 (PHOAR2) [MIM:614441] VAR_068638 commonName VAR_068638 VAR_068638 disease phenotype-associated VAR_068638 phenoCommon Hypertrophic osteoarthropathy, primary, autosomal recessive, type 2 (PHOAR2) [MIM:614441] VAR_068639 commonName VAR_068639 VAR_068639 disease phenotype-associated VAR_068639 phenoCommon Hypertrophic osteoarthropathy, primary, autosomal recessive, type 2 (PHOAR2) [MIM:614441] VAR_068640 commonName VAR_068640 VAR_068640 disease phenotype-associated VAR_068640 phenoCommon Hypertrophic osteoarthropathy, primary, autosomal recessive, type 2 (PHOAR2) [MIM:614441] VAR_068641 commonName VAR_068641 VAR_068641 disease phenotype-associated VAR_068641 phenoCommon Hypertrophic osteoarthropathy, primary, autosomal recessive, type 2 (PHOAR2) [MIM:614441] VAR_068646 commonName VAR_068646 VAR_068646 disease phenotype-associated VAR_068646 phenoCommon Myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2) [MIM:613561] VAR_068647 commonName VAR_068647 VAR_068647 disease phenotype-associated VAR_068648 commonName VAR_068648 VAR_068649 commonName VAR_068649 VAR_068649 disease phenotype-associated VAR_068649 phenoCommon Leigh syndrome (LS) [MIM:256000] VAR_068650 commonName VAR_068650 VAR_068650 disease phenotype-associated VAR_068650 phenoCommon Leigh syndrome (LS) [MIM:256000] VAR_068651 commonName VAR_068651 VAR_068651 disease phenotype-associated VAR_068651 phenoCommon Leigh syndrome (LS) [MIM:256000] VAR_068652 commonName VAR_068652 VAR_068652 disease phenotype-associated VAR_068652 phenoCommon Leigh syndrome (LS) [MIM:256000] VAR_068653 commonName VAR_068653 VAR_068653 disease phenotype-associated VAR_068653 phenoCommon Leigh syndrome (LS) [MIM:256000] VAR_068654 commonName VAR_068654 VAR_068654 disease phenotype-associated VAR_068654 phenoCommon Leigh syndrome (LS) [MIM:256000] VAR_068655 commonName VAR_068655 VAR_068655 disease phenotype-associated VAR_068655 phenoCommon Desbuquois dysplasia (DBQD) [MIM:251450] VAR_068656 commonName VAR_068656 VAR_068656 disease phenotype-associated VAR_068656 phenoCommon Desbuquois dysplasia (DBQD) [MIM:251450] VAR_068657 commonName VAR_068657 VAR_068657 disease phenotype-associated VAR_068657 phenoCommon Desbuquois dysplasia (DBQD) [MIM:251450] VAR_068658 commonName VAR_068658 VAR_068658 disease phenotype-associated VAR_068658 phenoCommon Desbuquois dysplasia (DBQD) [MIM:251450] VAR_068659 commonName VAR_068659 VAR_068659 disease phenotype-associated VAR_068659 phenoCommon Desbuquois dysplasia (DBQD) [MIM:251450] VAR_068660 commonName VAR_068660 VAR_068660 disease phenotype-associated VAR_068660 phenoCommon Desbuquois dysplasia (DBQD) [MIM:251450] VAR_068661 commonName VAR_068661 VAR_068661 disease not phenotype-associated VAR_068662 commonName VAR_068662 VAR_068662 disease phenotype-associated VAR_068662 phenoCommon Desbuquois dysplasia (DBQD) [MIM:251450] VAR_068663 commonName VAR_068663 VAR_068663 disease phenotype-associated VAR_068663 phenoCommon Desbuquois dysplasia (DBQD) [MIM:251450] VAR_068664 commonName VAR_068664 VAR_068664 disease not phenotype-associated VAR_068665 commonName VAR_068665 VAR_068665 disease phenotype-associated VAR_068665 phenoCommon Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] VAR_068666 commonName VAR_068666 VAR_068666 disease phenotype-associated VAR_068666 phenoCommon Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] VAR_068667 commonName VAR_068667 VAR_068667 disease not phenotype-associated VAR_068668 commonName VAR_068668 VAR_068668 disease phenotype-associated VAR_068668 phenoCommon Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] VAR_068669 commonName VAR_068669 VAR_068669 disease phenotype-associated VAR_068669 phenoCommon Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] VAR_068670 commonName VAR_068670 VAR_068670 disease not phenotype-associated VAR_068671 commonName VAR_068671 VAR_068671 disease phenotype-associated VAR_068671 phenoCommon Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] VAR_068672 commonName VAR_068672 VAR_068672 disease phenotype-associated VAR_068672 phenoCommon Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] VAR_068673 commonName VAR_068673 VAR_068673 disease not phenotype-associated VAR_068674 commonName VAR_068674 VAR_068674 disease phenotype-associated VAR_068674 phenoCommon Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200] VAR_068675 commonName VAR_068675 VAR_068675 disease not phenotype-associated VAR_068676 commonName VAR_068676 VAR_068676 disease not phenotype-associated VAR_068677 commonName VAR_068677 VAR_068677 disease not phenotype-associated VAR_068678 commonName VAR_068678 VAR_068678 disease not phenotype-associated HbVar.686 commonName Hb S-Providence HbVar.686 ethnic West African HbVar.686 phenoCommon Hemoglobin variant HbVar.687 protEffect HBB 7(A3) Glu>Val AND HBB 122(GH4) Glu>Lys HbVar.687 commonName Hb S-Oman HbVar.687 ethnic Oman HbVar.687 phenoCommon Hemoglobin variant HbVar.688 protEffect HBB 7(A3) Glu>Val AND HBB 143(H20) Ala>Val HbVar.688 commonName Hb S-Travis HbVar.688 ethnic Black HbVar.688 phenoCommon Hemoglobin variant HbVar.689 protEffect HBB 7(A3) Glu>Lys AND HBB 38(C3) Trp>Arg HbVar.689 commonName Hb C-Rothschild HbVar.689 ethnic Nigerian HbVar.689 phenoCommon Hemoglobin variant HbVar.690 protEffect HBB 7(A3) Glu>Lys AND HBB 96(FG2) Lys>Glu HbVar.690 commonName Hb Arlington Park HbVar.690 ethnic Black HbVar.690 phenoCommon Hemoglobin variant HbVar.691 protEffect HBB 27(B8) Glu>Lys AND HBB 105(G6) Arg>Thr HbVar.691 commonName Hb Corbeil HbVar.691 ethnic French HbVar.691 phenoCommon Hemoglobin variant HbVar.692 protEffect HBB 27(B8) Glu>Lys AND HBB 122(GH4) Glu>Gln HbVar.692 commonName Hb T-Cambodia HbVar.692 ethnic Cambodian HbVar.692 phenoCommon Hemoglobin variant HbVar.692 phenoCommon Normal HbVar.692 phenoCommon mild Anemia HbVar.692 phenoCommon hemolytic Anemia HbVar.692 phenoCommon Target cells HbVar.693 protEffect HBB 52(D2) Pro>Ser AND HBB 53(D3) Asp>Asn HbVar.693 commonName Hb Grenoble HbVar.693 ethnic French HbVar.693 phenoCommon Hemoglobin variant HbVar.694 protEffect HBB 57(D7) Gly>Arg AND HBB 87(F2) Ala>Pro HbVar.694 commonName Hb Poissy HbVar.694 ethnic French HbVar.694 phenoCommon Hemoglobin variant HbVar.695 protEffect HBB 76(E19) Leu>Pro AND HBB 142(H19) Leu->0 HbVar.695 commonName Hb Atlanta-Coventry HbVar.695 phenoCommon Hemoglobin variant HbVar.696 protEffect HBB 78(EF1) His>Tyr AND HBB 81(EF4) Asn>Ser HbVar.696 commonName Hb Villeparisis HbVar.696 ethnic French HbVar.696 phenoCommon Hemoglobin variant HbVar.697 protEffect HBB 93(F8) His>Pro AND HBB 105(G6) Arg>Ser HbVar.697 commonName Hb Duino HbVar.697 ethnic Italian HbVar.697 phenoCommon Hemoglobin variant HbVar.698 protEffect HBB 99(FG5) Val>Met AND HBB 33(B14) Leu>Gln HbVar.698 commonName Hb Medicine Lake HbVar.698 alias Codon 32 (T->A) CTG->CAG; codon 98 (G->A) GTG->ATG beta0 HbVar.698 ethnic Caucasian HbVar.698 phenoCommon beta0 thalassemia HbVar.699 protEffect HBB 120(GH2) Gly>Asp HbVar.699 commonName Hb Fannin-Lubbock I HbVar.699 ethnic Mexican HbVar.699 ethnic American HbVar.699 ethnic Spanish HbVar.699 phenoCommon Hemoglobin variant HbVar.700 protEffect HBB 115(G16) Leu>Met AND HBB 120(GH2) Gly>Asp HbVar.700 commonName Hb Masuda HbVar.700 ethnic Japanese HbVar.700 phenoCommon Hemoglobin variant HbVar.701 protEffect HBB 122(GH4) Glu>Gln AND HBB 94(F9) Cys>Arg HbVar.701 commonName Hb Cleveland HbVar.701 phenoCommon Hemoglobin variant HbVar.702 protEffect HBA2 or HBA1 140 (-A); modified C-terminal sequence: (140)Asn-Thr-Val-Lys-Leu-Glu-Pro-(147)Arg-COOH HbVar.702 commonName Hb Wayne HbVar.702 ethnic Caucasian HbVar.702 phenoCommon Hemoglobin variant HbVar.703 protEffect HBA2 143, Stop>Gln; modified C-terminal sequence: (143)Gln-Ala-Gly-Ala-Ser-Val-Ala-Val-Pro-Pro-Ala- Arg-Trp-Ala-Ser-Gln-Arg-Ala-Leu-Leu-Pro- Ser-Leu-His-Arg-Pro-Phe-Leu-Val-Phe-(173)Glu-COOH HbVar.703 commonName Hb Constant Spring (Hb CS) HbVar.703 alias Codon 142 (TAA->CAA) of the alpha2 gene alpha-Thal-2 HbVar.703 ethnic Arabian HbVar.703 ethnic Cambodian HbVar.703 ethnic Chinese HbVar.703 ethnic Greek HbVar.703 ethnic Indian HbVar.703 ethnic Indonesian HbVar.703 ethnic Laotian HbVar.703 ethnic Malasian HbVar.703 ethnic Sicilian HbVar.703 ethnic Vietnamese HbVar.703 phenoCommon alpha-2 thalassemia HbVar.704 protEffect HBA2 143, Stop>Lys; modified C-terminal sequence: (143)Lys-Ala-Gly-Ala-Ser-Val-Ala-Val-Pro-Pro-Ala- Arg-Trp-Ala-Ser-Gln-Arg-Ala-Leu-Leu-Pro- Ser-Leu-His-Arg-Pro-Phe-Leu-Val-Phe-(173)Glu-COOH HbVar.704 commonName Hb Icaria HbVar.704 alias Codon 142 (TAA->AAA) of the alpha2 gene alpha-Thal-2 HbVar.704 ethnic Macedonian HbVar.704 ethnic Greek HbVar.704 ethnic Balkan HbVar.704 phenoCommon alpha-2 thalassemia HbVar.705 protEffect HBA2 143, Stop>Ser; modified C-terminal sequence: (143)Ser-Ala-Gly-Ala-Ser-Val-Ala-Val-Pro-Pro-Ala- Arg-Trp-Ala-Ser-Gln-Arg-Ala-Leu-Leu-Pro- Ser-Leu-His-Arg-Pro-Phe-Leu-Val-Phe-(173)Glu-COOH HbVar.705 commonName Hb Koya Dora HbVar.705 alias Codon 142 (TAA->TCA) of the alpha2 gene alpha-Thal-2 HbVar.705 ethnic Koya Dora HbVar.705 phenoCommon alpha-2 thalassemia HbVar.705 phenoCommon mild Anemia HbVar.705 phenoCommon Microcytosis HbVar.705 phenoCommon Hypochromia HbVar.706 protEffect HBA2 143, Stop>Glu; modified C-terminal sequence: (143)Glu-Ala-Gly-Ala-Ser-Val-Ala-Val-Pro-Pro-Ala- Arg-Trp-Ala-Ser-Gln-Arg-Ala-Leu-Leu-Pro- Ser-Leu-His-Arg-Pro-Phe-Leu-Val-Phe-(173)Glu-COOH HbVar.706 commonName Hb Seal Rock HbVar.706 alias Codon 142 (TAA->GAA) of the alpha2 gene alpha-Thal-2 HbVar.706 ethnic Black HbVar.706 phenoCommon alpha-2 thalassemia HbVar.707 protEffect HBA2 143, Stop>Tyr; modified C-terminal sequence: (143)Tyr-Ala-Gly-Ala-Ser-Val-Ala-Val-Pro-Pro-Ala- Arg-Trp-Ala-Ser-Gln-Arg-Ala-Leu-Leu-Pro- Ser-Leu-His-Arg-Pro-Phe-Leu-Val-Phe-(173)Glu-COOH HbVar.707 commonName Hb Pakse HbVar.707 alias Codon 142 (TAA->TAT) of the alpha2 gene alpha-Thal-2 HbVar.707 ethnic Laotian HbVar.707 ethnic Thai HbVar.707 phenoCommon Thalassemia HbVar.708 protEffect HBB 144 (-A); modified C-terminal sequence: (144)Pro-Ser-Ile-Thr-Lys-Leu-Ala-Phe-Leu-Leu- Ser-Asn-Phe-(157)Tyr-COOH HbVar.708 commonName Hb Saverne HbVar.708 ethnic French HbVar.708 phenoCommon Hemoglobin variant HbVar.709 protEffect HBB 146(+CT); modified C-terminal sequence: (146)Ser-Ile-Thr-Lys-Leu- Ala-Phe-Leu-Leu-Ser-Asn-Phe-(158)Tyr-COOH HbVar.709 commonName Hb Cranston HbVar.709 ethnic Italian HbVar.709 ethnic American HbVar.709 phenoCommon Hemoglobin variant HbVar.710 protEffect HBB 148(+AC); modified C-terminal sequence: (148)Thr-Lys-Leu- Ala-Phe-Leu-Leu-Ser-Asn-Phe-(158)Tyr-COOH HbVar.710 commonName Hb Tak HbVar.710 ethnic Thai HbVar.710 phenoCommon Hemoglobin variant HbVar.711 protEffect HBA2 or HBA1 2(NA1) Val>Glu HbVar.711 commonName Hb Thionville HbVar.711 phenoCommon Hemoglobin variant HbVar.712 protEffect HBB 2(NA1) Val>Glu HbVar.712 commonName Hb Doha HbVar.712 ethnic Qatari HbVar.712 phenoCommon Hemoglobin variant HbVar.713 protEffect HBB 2(NA1) Val>Met HbVar.713 commonName Hb South Florida HbVar.713 ethnic Caucasian HbVar.713 phenoCommon Hemoglobin variant HbVar.714 protEffect HBB 3(NA2) His>Pro HbVar.714 commonName Hb Marseille HbVar.714 alias Hb Long Island-Marseille HbVar.714 ethnic French HbVar.714 ethnic American HbVar.714 ethnic Australian HbVar.714 ethnic Maltese HbVar.714 phenoCommon Hemoglobin variant HbVar.715 protEffect HBA1 or HBA2 7(A4) Asp->0 HbVar.715 commonName Hb Boyle Heights HbVar.715 ethnic Mexican HbVar.715 phenoCommon Hemoglobin variant HbVar.716 protEffect HBA1 39(C3) Thr->0 OR HBA1 40(C4) Thr->0 HbVar.716 commonName Hb Taybe HbVar.716 alias Codons 38/39 (-ACC); deleted from the alpha1-globin gene alpha-Thal-2 HbVar.716 ethnic Arabian HbVar.716 phenoCommon alpha-2 thalassemia HbVar.716 phenoCommon severe Anemia HbVar.716 phenoCommon chronic Anemia HbVar.716 phenoCommon hemolytic Anemia HbVar.717 protEffect HBA1 52(CE9) - 59(E7) Gly-Ser-Ala-Gln-Val-Lys-Gly-His->0 OR HBA1 53(E1) - 60(E8) Ser-Ala-Gln-Val-Lys-Gly-His-Gly->0 HbVar.717 commonName Hb J-Biskra HbVar.717 ethnic Algerian HbVar.717 phenoCommon Hemoglobin variant HbVar.718 protEffect HBA2 75(EF3) Asp->0 OR HBA2 76(EF4) Asp->0 HbVar.718 commonName Hb Watts HbVar.718 ethnic Mexican HbVar.718 ethnic American HbVar.718 phenoCommon Hemoglobin variant HbVar.719 protEffect HBA2 141(HC2) Tyr-Arg->0 HbVar.719 commonName Hb Natal HbVar.719 ethnic Asian Indian HbVar.719 phenoCommon Hemoglobin variant HbVar.720 protEffect HBB 7(A3) Glu->0 OR HBB 8(A4) Glu->0 HbVar.720 commonName Hb Leiden HbVar.720 ethnic Netherlands HbVar.720 ethnic Chinese HbVar.720 ethnic American HbVar.720 ethnic South African HbVar.720 ethnic Mexican HbVar.720 ethnic Yugoslavian HbVar.720 phenoCommon Hemoglobin variant HbVar.721 protEffect HBB 18(A14) - 19(A15) Lys-Val->0 HbVar.721 commonName Hb Lyon HbVar.721 ethnic French HbVar.721 ethnic Spanish HbVar.721 ethnic North African HbVar.721 phenoCommon Hemoglobin variant HbVar.722 protEffect HBB 24(B5) Val->0 HbVar.722 commonName Hb Freiburg HbVar.722 ethnic German HbVar.722 phenoCommon Hemoglobin variant HbVar.723 protEffect HBB 25(B6) Gly->0 OR HBB 26(B7) Gly->0 HbVar.723 commonName Hb Higashitochigi (Hb HT) HbVar.723 ethnic Japanese HbVar.723 phenoCommon Hemoglobin variant HbVar.724 protEffect HBB 42(C7) Phe->0 OR HBB 43(CD1) Phe->0 HbVar.724 commonName Hb Bruxelles HbVar.724 ethnic Belgian HbVar.724 phenoCommon Hemoglobin variant HbVar.725 protEffect HBB 43(CD1) - 45(CD3) Phe-Glu-Ser->0 OR HBB 44(CD2) - 46(CD4) Glu-Ser-Phe->0 HbVar.725 commonName Hb Niteroi HbVar.725 ethnic Brazilian HbVar.725 phenoCommon Hemoglobin variant HbVar.726 protEffect HBB 57(D7) - 60(E3) Gly-Asn-Pro-Lys->0 HbVar.726 commonName Hb Tochigi HbVar.726 ethnic Japanese HbVar.726 phenoCommon Hemoglobin variant HbVar.727 protEffect HBB 75(E18) - 76(E19) Gly-Leu->0 HbVar.727 commonName Hb Saint-Antoine HbVar.727 ethnic Mediterranean HbVar.727 phenoCommon Hemoglobin variant HbVar.728 protEffect HBB 76(E19) Leu->0 HbVar.728 commonName Hb Vicksburg HbVar.728 ethnic Black HbVar.728 phenoCommon Hemoglobin variant HbVar.729 protEffect HBB 88(F3) Thr->0 HbVar.729 commonName Hb Tours HbVar.729 ethnic French HbVar.729 phenoCommon Hemoglobin variant HbVar.730 protEffect HBB 92(F7) - 96(FG2) Leu-His-Cys-Asp-Lys->0 HbVar.730 commonName Hb Gun Hill HbVar.730 ethnic German HbVar.730 ethnic English HbVar.730 ethnic Black HbVar.730 phenoCommon Hemoglobin variant HbVar.731 protEffect HBB 142(H19) Leu->0 HbVar.731 commonName Hb Coventry HbVar.731 phenoCommon Hemoglobin variant HbVar.732 protEffect Glu- inserted between codons 38(C2) and 39(C3) of HBA1 or HBA2 HbVar.732 commonName Hb Catonsville HbVar.732 phenoCommon Hemoglobin variant HbVar.733 protEffect His-Leu-Pro-Ala-Glu- inserted between codons 117(GH4) and 118(GH5) of HBA1 or HBA2 HbVar.733 commonName Hb Zaire HbVar.733 ethnic Zairian HbVar.733 phenoCommon Hemoglobin variant HbVar.734 protEffect I- inserted between codons 118(GH5) and 119(H1) of HBA1 HbVar.734 commonName Hb Phnom Penh HbVar.734 ethnic Cambodian HbVar.734 phenoCommon Hemoglobin variant HbVar.735 protEffect Glu-Phe-Thr- inserted between codons 119(H1) and 120(H2) of HBA1 or HBA2 HbVar.735 commonName Hb Grady HbVar.735 ethnic Black HbVar.735 phenoCommon Hemoglobin variant HbVar.736 protEffect Glu-Leu-His-Cys-Asp- inserted between codons 95(FG1) and 96(FG2) of HBB HbVar.736 commonName Hb Fairfax HbVar.736 ethnic African-American HbVar.736 phenoCommon Hemoglobin variant HbVar.737 protEffect Leu-His-Cys-Asp-Lys- inserted between codons 96(FG2) and 97(FG3) of HBB HbVar.737 commonName Hb Koriyama HbVar.737 ethnic Japanese HbVar.737 phenoCommon Hemoglobin variant HbVar.738 protEffect HBB 74(E17) - 76(E19) Asp-Gly-Leu->0 AND Ala-Arg-Cys-Gln- inserted between codons 73(E16) and 77(E20) of HBB HbVar.738 commonName Hb Montreal HbVar.738 ethnic French Canadian HbVar.738 phenoCommon Hemoglobin variant HbVar.739 protEffect HBB 98(FG4) - 99(FG5) His-Val->0 AND inserted Leu HbVar.739 commonName Hb Galicia HbVar.739 ethnic Spanish HbVar.739 phenoCommon Hemoglobin variant HbVar.740 protEffect HBB 140(H17) Asn>Tyr AND HBB 139(H16) Ala->0 HbVar.740 commonName Hb Nijkerk HbVar.740 alias Hb Nykerk HbVar.740 ethnic Dutch HbVar.740 phenoCommon Hemoglobin variant HbVar.741 protEffect HBB 142(H19) - 145(HC1) Leu-Ala-His-Lys->0 AND inserted Gln HbVar.741 commonName Hb Birmingham HbVar.741 ethnic Black HbVar.741 phenoCommon Hemoglobin variant HbVar.742 protEffect delta-beta hybrid (HBD through 23; HBB from 50) HbVar.742 commonName Hb Lepore-Hollandia HbVar.742 ethnic Papuan HbVar.742 phenoCommon Thalassemia HbVar.743 protEffect delta-beta hybrid (HBD through 51; HBB from 86) HbVar.743 commonName Hb Lepore-Baltimore HbVar.743 ethnic Spanish HbVar.743 ethnic African HbVar.743 ethnic Yugoslavian HbVar.743 phenoCommon Thalassemia HbVar.744 protEffect delta-beta hybrid (HBD through 88; HBB from 116) HbVar.744 commonName Hb Lepore-Boston-Washington HbVar.744 ethnic Italian HbVar.744 ethnic Rumanian HbVar.744 ethnic Yugoslavian HbVar.744 ethnic Turkish HbVar.744 ethnic Cypriot HbVar.744 ethnic Jamaican HbVar.744 ethnic Cuban HbVar.744 ethnic Greek HbVar.744 ethnic English HbVar.744 ethnic Australian HbVar.744 ethnic Mexican HbVar.744 phenoCommon Thalassemia HbVar.745 protEffect delta-beta hybrid (delta through 13; beta from 22) AND beta-delta hybrid (HBD through 13; HBB from 22) AND delta-beta hybrid (delta through 13; beta from 22) AND beta-delta hybrid (HBB through 50; HBD from 86) HbVar.745 commonName Hb Parchman HbVar.745 ethnic Black HbVar.745 phenoCommon Hemoglobin variant HbVar.746 protEffect beta-delta hybrid (HBB through 13; HBD from 22) HbVar.746 commonName Hb Miyada HbVar.746 ethnic Japanese HbVar.746 ethnic Italian HbVar.746 phenoCommon Hemoglobin variant HbVar.747 protEffect beta-delta hybrid (HBB through 23; HBD from 116) HbVar.747 commonName Hb P-Congo HbVar.747 ethnic Congolese HbVar.747 phenoCommon Hemoglobin variant HbVar.749 protEffect HBD 138(H15) Val->0 HbVar.749 commonName Hb Lincoln Park HbVar.749 ethnic Mexican HbVar.749 phenoCommon Hemoglobin variant HbVar.750 protEffect beta-delta hybrid (HBB through 88; HBD from 116) HbVar.750 commonName Hb P-India HbVar.750 ethnic Indian HbVar.750 phenoCommon Hemoglobin variant HbVar.751 protEffect Agamma-beta hybrid (HBG1 through 81; HBB from 87) HbVar.751 commonName Hb Kenya HbVar.751 alias HPFH-7; Kenya HbVar.751 ethnic African-American HbVar.751 ethnic Kenyan HbVar.751 ethnic Ugandan HbVar.751 phenoCommon Thalassemia HbVar.752 commonName -92 (C->T) beta+ (mild) HbVar.752 ethnic Italian HbVar.752 ethnic Sicilian HbVar.752 phenoCommon beta+ thalassemia HbVar.753 protEffect HBA1 120(H2) Pro>Leu HbVar.753 commonName Hb Diamant HbVar.753 ethnic French West Indies HbVar.753 phenoCommon Hemoglobin variant HbVar.754 commonName -90 (C->T) beta+ HbVar.754 ethnic Portuguese HbVar.754 phenoCommon beta+ thalassemia HbVar.755 commonName -88 (C->A) beta+ HbVar.755 ethnic Egyptian HbVar.755 ethnic Iranian HbVar.755 ethnic Bahrein HbVar.755 phenoCommon beta+ thalassemia HbVar.756 commonName -88 (C->T) beta+ HbVar.756 ethnic Lebanese HbVar.756 ethnic Pakistani HbVar.756 ethnic Punjabi HbVar.756 ethnic Pathan HbVar.756 ethnic Black HbVar.756 ethnic Syria HbVar.756 phenoCommon beta+ thalassemia HbVar.757 commonName -87 (C->A) beta+ HbVar.757 ethnic Argentine HbVar.757 ethnic Black HbVar.757 phenoCommon beta+ thalassemia HbVar.758 commonName -87 (C->G) beta+ HbVar.758 ethnic Lebanese HbVar.758 ethnic Jordan HbVar.758 ethnic Egyptian HbVar.758 ethnic Italian HbVar.758 ethnic Sardinian HbVar.758 ethnic Sicilian HbVar.758 ethnic Greek HbVar.758 ethnic Turkish HbVar.758 ethnic Macedonian HbVar.758 ethnic Bulgarian HbVar.758 ethnic Syria HbVar.758 ethnic Serbian HbVar.758 ethnic Iranian HbVar.758 phenoCommon beta+ thalassemia HbVar.759 commonName -87 (C->T) beta+ HbVar.759 ethnic Italian HbVar.759 phenoCommon beta+ thalassemia HbVar.760 commonName -86 (C->A) beta+ HbVar.760 ethnic Italian HbVar.760 phenoCommon beta+ thalassemia HbVar.761 commonName -86 (C->G) beta+ HbVar.761 ethnic Thai HbVar.761 ethnic Lebanese HbVar.761 phenoCommon beta+ thalassemia HbVar.762 commonName -32 (C->A) beta+ HbVar.762 ethnic Taiwanese HbVar.762 phenoCommon beta+ thalassemia HbVar.763 commonName -31 (A->C) beta+ HbVar.763 ethnic Italian HbVar.763 phenoCommon beta+ thalassemia HbVar.764 commonName -31 (A->G) beta+ HbVar.764 ethnic Japanese HbVar.764 phenoCommon beta+ thalassemia HbVar.765 commonName -30 (T->A) beta+ HbVar.765 ethnic Lebanese HbVar.765 ethnic Israel HbVar.765 ethnic Tunisian HbVar.765 ethnic Algerian HbVar.765 ethnic Greek HbVar.765 ethnic Turkish HbVar.765 ethnic Macedonian HbVar.765 ethnic Bulgarian HbVar.765 ethnic Azerbaijan HbVar.765 ethnic Syria HbVar.765 ethnic Iranian HbVar.765 phenoCommon beta+ thalassemia HbVar.766 commonName -30 (T->C) beta (0 or + unclear) HbVar.766 ethnic Chinese HbVar.766 phenoCommon beta (0 or + unclear) thalassemia HbVar.767 commonName -29 (A->G) beta+ HbVar.767 ethnic Algerian HbVar.767 ethnic Malaysian HbVar.767 ethnic Taiwanese HbVar.767 ethnic Chinese HbVar.767 ethnic Black HbVar.767 phenoCommon beta+ thalassemia HbVar.768 commonName -28 (A->C) beta+ HbVar.768 ethnic Turkish HbVar.768 ethnic Azerbaijan HbVar.768 ethnic Kurdish Jewish HbVar.768 phenoCommon beta+ thalassemia HbVar.769 commonName -28 (A->G) beta+ HbVar.769 ethnic Thai HbVar.769 ethnic Malaysian HbVar.769 ethnic Taiwanese HbVar.769 ethnic Chinese HbVar.769 ethnic Japanese HbVar.769 phenoCommon beta+ thalassemia HbVar.770 commonName CAP +1 (A->C) beta+ HbVar.770 ethnic Saudi Arabian HbVar.770 ethnic Egyptian HbVar.770 ethnic Pakistani HbVar.770 ethnic Punjabi HbVar.770 ethnic Pathan HbVar.770 ethnic Thai HbVar.770 ethnic Malaysian HbVar.770 ethnic Singapore HbVar.770 ethnic Chinese HbVar.770 phenoCommon beta+ thalassemia HbVar.771 commonName 5'UTR; +10 (-T) beta+ (silent) HbVar.771 ethnic Greek HbVar.771 phenoCommon beta+ thalassemia HbVar.772 commonName 5'UTR; +22 (G->A) beta+ HbVar.772 ethnic Bulgarian HbVar.772 ethnic Azerbaijan HbVar.772 ethnic Turkish HbVar.772 phenoCommon beta+ thalassemia HbVar.773 commonName 5'UTR; +33 (C->G) beta+ (silent) HbVar.773 ethnic Greek Cypriot HbVar.773 phenoCommon beta+ thalassemia HbVar.774 commonName 5'UTR; +43 to +40 (-AAAC) beta+ HbVar.774 ethnic Chinese HbVar.774 phenoCommon beta+ thalassemia HbVar.775 protEffect HBB Initiation codon Met>Val HbVar.775 commonName Initiation codon ATG->GTG beta0 HbVar.775 ethnic Hungarian HbVar.775 ethnic Singapore HbVar.775 ethnic Japanese HbVar.775 phenoCommon beta0 thalassemia HbVar.776 protEffect HBB Initiation codon Met>Thr HbVar.776 commonName Initiation codon ATG->ACG beta0 HbVar.776 ethnic Croatian HbVar.776 ethnic Russian HbVar.776 ethnic Japanese HbVar.776 phenoCommon beta0 thalassemia HbVar.777 protEffect HBB Initiation codon Met>Arg HbVar.777 commonName Initiation codon ATG->AGG beta0 HbVar.777 ethnic Japanese HbVar.777 ethnic Korean HbVar.777 ethnic Northern European HbVar.777 phenoCommon beta0 thalassemia HbVar.778 protEffect HBB Initiation codon Met>Ile HbVar.778 commonName Initiation codon ATG->ATA beta0 HbVar.778 ethnic Japanese HbVar.778 ethnic Italian HbVar.778 ethnic Swedish HbVar.778 phenoCommon beta0 thalassemia HbVar.779 protEffect HBB Initiation codon Met>Ile HbVar.779 commonName Initiation codon ATG->ATC beta0 HbVar.779 ethnic Japanese HbVar.779 phenoCommon beta0 thalassemia HbVar.780 protEffect HBB Initiation codon Met>Ile HbVar.780 commonName Initiation codon ATG->ATT beta0 HbVar.780 ethnic Iranian HbVar.780 phenoCommon beta0 thalassemia HbVar.781 protEffect HBB 2 (-G); modified C-terminal sequence: (2)Cys-(3)Thr-COOH HbVar.781 commonName Codon 1 (-G); GTG(Val)->-TG beta0 HbVar.781 ethnic Italian HbVar.781 ethnic Sardinian HbVar.781 ethnic Sicilian HbVar.781 phenoCommon beta0 thalassemia HbVar.782 protEffect HBB 3(NA2) - 5(A1) His-Leu-Thr->0 AND HBB 3(+CCTGAGGTGAAGTCTGCCTGAGGAGAAGTCT); modified C-terminal sequence: (3)Pro-Glu-Val-Lys-Ser-(8)Ala-COOH HbVar.782 commonName Codons 2/3/4 (-9 bp; +31 bp); beta0 HbVar.782 ethnic Algerian HbVar.782 phenoCommon beta0 thalassemia HbVar.783 protEffect HBB 6 (-CT); modified C-terminal sequence: (6)Arg-Gly-Glu-Val-Cys-Arg-Tyr-Cys-Pro-Val- Gly-Gln-Gly-Glu-Arg-(21)Gly-COOH HbVar.783 commonName Codon 5 (-CT); CCT(Pro)->C-- beta0 HbVar.783 ethnic Lebanese HbVar.783 ethnic Jordan HbVar.783 ethnic Israel HbVar.783 ethnic United Arab Emirates HbVar.783 ethnic Oman HbVar.783 ethnic Egyptian HbVar.783 ethnic Tunisian HbVar.783 ethnic Italian HbVar.783 ethnic Sicilian HbVar.783 ethnic Greek HbVar.783 ethnic Turkish HbVar.783 ethnic Macedonian HbVar.783 ethnic Bulgarian HbVar.783 ethnic English HbVar.783 ethnic Iranian HbVar.783 ethnic Pakistani HbVar.783 ethnic Punjabi HbVar.783 ethnic Maharashtran HbVar.783 ethnic Pathan HbVar.783 ethnic Syria HbVar.783 ethnic Albania HbVar.783 phenoCommon beta0 thalassemia HbVar.784 protEffect HBB 7 (-A); modified C-terminal sequence: (7)Gly-Arg-Ser-Leu-Pro-Leu-Leu-Pro-Cys-Gly- Ala-(18)Arg-COOH HbVar.784 commonName Codon 6 (-A); GAG(Glu)->G-G beta0 HbVar.784 ethnic Jordan HbVar.784 ethnic Saudi Arabian HbVar.784 ethnic Egyptian HbVar.784 ethnic Tunisian HbVar.784 ethnic Algerian HbVar.784 ethnic Italian HbVar.784 ethnic Sardinian HbVar.784 ethnic Sicilian HbVar.784 ethnic Greek HbVar.784 ethnic Greek Cypriot HbVar.784 ethnic Turkish HbVar.784 ethnic Macedonian HbVar.784 ethnic Bulgarian HbVar.784 ethnic Portuguese HbVar.784 ethnic Spanish HbVar.784 ethnic Black HbVar.784 ethnic Argentine HbVar.784 phenoCommon beta0 thalassemia HbVar.785 protEffect HBB 9 (-AA); modified C-terminal sequence: (9)Val-Cys-Arg-Tyr-Cys-Pro-Val-Gly-Gln-Gly- Glu-Arg-(21)Gly-COOH HbVar.785 commonName Codon 8 (-AA); AAG(Lys)->--G beta0 HbVar.785 ethnic Lebanese HbVar.785 ethnic Israel HbVar.785 ethnic Kuwaiti HbVar.785 ethnic United Arab Emirates HbVar.785 ethnic Egyptian HbVar.785 ethnic Tunisian HbVar.785 ethnic Italian HbVar.785 ethnic Sicilian HbVar.785 ethnic Greek HbVar.785 ethnic Greek Cypriot HbVar.785 ethnic Turkish HbVar.785 ethnic Macedonian HbVar.785 ethnic Croatian HbVar.785 ethnic Bulgarian HbVar.785 ethnic Azerbaijan HbVar.785 ethnic Russian HbVar.785 ethnic Spanish HbVar.785 ethnic Syria HbVar.785 phenoCommon beta0 thalassemia HbVar.786 protEffect HBB 10(+G); modified C-terminal sequence: (10)Val-Cys-Arg-Tyr-Cys-Pro-Val-Gly-Gln-Gly-Glu- Arg-(22)Gly-COOH HbVar.786 commonName Codons 8/9 (+G); AAG TCT(Lys;Ser)->AAG G TCT beta0 HbVar.786 ethnic Lebanese HbVar.786 ethnic Saudi Arabian HbVar.786 ethnic Kuwaiti HbVar.786 ethnic United Arab Emirates HbVar.786 ethnic Egyptian HbVar.786 ethnic Greek HbVar.786 ethnic Turkish HbVar.786 ethnic Bulgarian HbVar.786 ethnic Azerbaijan HbVar.786 ethnic Spanish HbVar.786 ethnic Iranian HbVar.786 ethnic Pakistani HbVar.786 ethnic Punjabi HbVar.786 ethnic Bangladesh HbVar.786 ethnic Pathan HbVar.786 ethnic Thai HbVar.786 ethnic Singapore HbVar.786 ethnic Japanese HbVar.786 ethnic Syria HbVar.786 ethnic Bahrein HbVar.786 phenoCommon beta0 thalassemia HbVar.787 protEffect HBB 11(+T); modified C-terminal sequence: (11)Cys-Arg-Tyr-Cys-Pro-Val-Gly-Gln-Gly-Glu- Arg-(22)Gly-COOH HbVar.787 commonName Codons 9/10 (+T); TCT GCC(Ser;Ala)->TCT T GCC beta0 HbVar.787 ethnic Greek HbVar.787 phenoCommon beta0 thalassemia HbVar.788 protEffect HBB 11(A7) Ala>Ala HbVar.788 commonName Codon 10 (C->A); GCC(Ala)->GCA(Ala) beta+ HbVar.788 ethnic Indian HbVar.788 phenoCommon beta+ thalassemia HbVar.789 protEffect HBB 12 (-T); modified C-terminal sequence: (12)Val-Leu-Pro-Cys-Gly-Ala-(18)Arg-COOH HbVar.789 commonName Codon 11 (-T); GTT(Val)->GT- beta0 HbVar.789 ethnic Spanish HbVar.789 ethnic Mexican HbVar.789 phenoCommon beta0 thalassemia HbVar.790 protEffect HBB 16(+G); modified C-terminal sequence: (16)Val-Gly-Gln-Gly-Glu- Arg-(22)Gly-COOH HbVar.790 commonName Codons 14/15 (+G); CTG TGG(Leu;Trp)->CTG G TGG beta0 HbVar.790 ethnic Thai HbVar.790 ethnic Chinese HbVar.790 phenoCommon beta0 thalassemia HbVar.791 protEffect HBB 16(A12) Trp>Stop HbVar.791 commonName Codon 15 (G->A); TGG(Trp)->TAG(stop codon) beta0 HbVar.791 ethnic Israel HbVar.791 ethnic United Arab Emirates HbVar.791 ethnic Oman HbVar.791 ethnic Turkish HbVar.791 ethnic Pakistani HbVar.791 ethnic Punjabi HbVar.791 ethnic Maharashtran HbVar.791 ethnic Bangladesh HbVar.791 ethnic Pathan HbVar.791 ethnic Thai HbVar.791 ethnic Indonesian HbVar.791 ethnic Japanese HbVar.791 ethnic Syria HbVar.791 ethnic Bahrein HbVar.791 phenoCommon beta0 thalassemia HbVar.792 protEffect HBB 105(G6) Arg>Trp HbVar.792 commonName Hb Sainte Eugenie HbVar.792 ethnic French HbVar.792 phenoCommon Hemoglobin variant HbVar.793 protEffect HBB 16(A12) Trp>Stop HbVar.793 commonName Codon 15 (G->A); TGG(Trp)->TGA(stop codon) beta0 HbVar.793 ethnic Portuguese HbVar.793 ethnic Russian HbVar.793 ethnic Japanese HbVar.793 phenoCommon beta0 thalassemia HbVar.793 phenoCommon severe Anemia HbVar.794 protEffect HBB 119(GH1) Phe>Cys HbVar.794 commonName Hb Harrow HbVar.794 ethnic Indian HbVar.794 phenoCommon Hemoglobin variant HbVar.795 protEffect HBB 37(C2) Pro>Ala HbVar.795 commonName Hb Brie Comte Robert HbVar.795 ethnic French HbVar.795 phenoCommon Hemoglobin variant HbVar.796 protEffect HBA1 56(E4) Val>Leu HbVar.796 commonName Hb Roubaix HbVar.796 alias Hb Poland HbVar.796 ethnic French Caucasian HbVar.796 ethnic Polish HbVar.796 phenoCommon Hemoglobin variant HbVar.797 protEffect HBB 122(GH 5) Phe>Leu HbVar.797 commonName Hb Bushey HbVar.797 ethnic Chinese HbVar.797 phenoCommon Hemoglobin variant HbVar.798 protEffect HBB 16 (-T); modified C-terminal sequence: (16)Gly-Ala-(18)Arg-COOH HbVar.798 commonName Codon 15 (-T); TGG(Trp)->-GG beta0 HbVar.798 ethnic Malay HbVar.798 phenoCommon beta0 thalassemia HbVar.799 protEffect HBB 17 (-C); modified C-terminal sequence: (17)Gly-(18)Arg-COOH HbVar.799 commonName Codon 16 (-C); GGC(Gly)->GG- beta0 HbVar.799 ethnic Azerbaijan HbVar.799 ethnic Pakistani HbVar.799 ethnic Punjabi HbVar.799 ethnic Pathan HbVar.799 ethnic Singapore HbVar.799 phenoCommon beta0 thalassemia HbVar.800 protEffect HBB 18(A14) Lys>Stop HbVar.800 commonName Codon 17 (A->T); AAG(Lys)->TAG(stop codon) beta0 HbVar.800 ethnic Thai HbVar.800 ethnic Malaysian HbVar.800 ethnic Singapore HbVar.800 ethnic Indonesian HbVar.800 ethnic Taiwanese HbVar.800 ethnic Chinese HbVar.800 ethnic Japanese HbVar.800 ethnic Korean HbVar.800 phenoCommon beta0 thalassemia HbVar.802 protEffect HBB 23(B4) Glu>Stop HbVar.802 commonName Codon 22 (G->T); GAA(Glu)->TAA(stop codon) beta0 HbVar.802 ethnic Reunion Island HbVar.802 phenoCommon beta0 thalassemia HbVar.803 protEffect HBB 22 - 25 (-AAGTTGG); modified C-terminal sequence HbVar.803 commonName Codons 22/23/24 (GAA GTT GGT; Glu Val Gly); deletion of -AAGTTGG beta0 HbVar.803 ethnic Turk HbVar.803 phenoCommon beta0 thalassemia HbVar.804 protEffect HBB 25 (-G); modified C-terminal sequence AND His- inserted between codons 24(B5) and 25(B6) of HBB HbVar.804 commonName Codon 24; GGT(Gly); (-G; +CAC) beta0 HbVar.804 ethnic Egyptian HbVar.804 phenoCommon beta0 thalassemia HbVar.805 protEffect HBB 25(B6) Gly>Gly HbVar.805 commonName Codon 24 (T->A); GGT(Gly)->GGA(Gly) beta+ HbVar.805 ethnic Japanese HbVar.805 ethnic Black HbVar.805 phenoCommon beta+ thalassemia HbVar.806 protEffect HBB 26(B7) Gly->0 HbVar.806 commonName Codons 24/25 (-GGT); GGT GGT(Gly-Gly)->---GGT(Gly); beta0 HbVar.806 ethnic Japanese HbVar.806 phenoCommon beta0 thalassemia HbVar.807 protEffect HBB 27(+T); modified C-terminal sequence: (27)stop codon HbVar.807 commonName Codons 25/26 (+T); GGT GAG(Gly-Glu)->GGT T GAG(Gly-Term) beta0 HbVar.807 ethnic Tunisian HbVar.807 phenoCommon beta0 thalassemia HbVar.808 protEffect HBB 27(B8) Glu>Stop HbVar.808 commonName Codon 26 (G->T); GAG(Glu)->TAG(stop codon) beta0 HbVar.808 ethnic Thai HbVar.808 phenoCommon beta0 thalassemia HbVar.809 protEffect HBB 27(+T); modified C-terminal sequence: (27)Val-Gly-Pro-Gly-Gln-Ala-Ala-Gly-Gly-Leu-
Pro-Leu-Asp-Pro-Glu-Val-Leu-(43)COOH HbVar.809 commonName Codon 26 (+T); GAG(Glu)->GTAG beta0 HbVar.809 ethnic Japanese HbVar.809 phenoCommon beta0 thalassemia HbVar.810 protEffect HBB 29(+C); modified C-terminal sequence HbVar.810 commonName Codons 27/28 (+C); GCC CTG(Ala Ser)->GCC C CTG beta0 HbVar.810 ethnic Thai HbVar.810 ethnic Singapore HbVar.810 ethnic Taiwanese HbVar.810 ethnic Chinese HbVar.810 phenoCommon beta0 thalassemia HbVar.811 protEffect HBB 29 (-C); modified C-terminal sequence HbVar.811 commonName Codon 28 (-C); CTG(Leu)->-TG beta0 HbVar.811 ethnic Egyptian HbVar.811 phenoCommon beta0 thalassemia HbVar.812 protEffect HBB 122(GH 5) Phe>Leu AND HBB 66(E9) Lys>Met HbVar.812 commonName Hb Casablanca HbVar.812 ethnic Moroccan HbVar.812 phenoCommon Hemoglobin variant HbVar.813 protEffect HBB 30 (-G); modified C-terminal sequence HbVar.813 commonName Codons 28/29 (-G); CTG GGC(Leu Gly)->CTG -GC beta0 HbVar.813 ethnic Japanese HbVar.813 ethnic Egyptian HbVar.813 phenoCommon beta0 thalassemia HbVar.814 protEffect HBB 30(B11) Gly>Gly HbVar.814 commonName IVS-I (-3) or codon 29 (C->T); GGC(Gly)->GGT(Gly) beta+ HbVar.814 ethnic Lebanese HbVar.814 phenoCommon beta+ thalassemia HbVar.815 protEffect HBB 31(B12) Arg>Gly HbVar.815 commonName IVS-I (-2) or codon 30 (A->G); AG^GTTGGT->GG^GTTGGT Probably beta0 HbVar.815 ethnic Sephardic Jewish HbVar.815 phenoCommon beta0 thalassemia HbVar.816 protEffect HBB 31(B12) Arg>Lys HbVar.816 commonName IVS-I (-1) or codon 30 (G->A) AG^GTTGGT->AA^GTTGGT beta0 HbVar.816 ethnic Oman HbVar.816 ethnic Tunisian HbVar.816 ethnic Algerian HbVar.816 ethnic Pakistani HbVar.816 ethnic Pathan HbVar.816 ethnic Bulgarian HbVar.816 phenoCommon beta0 thalassemia HbVar.817 commonName IVS-I-1 (G->A); AG^GTTGGT->AGATTGGT beta0 HbVar.817 ethnic Lebanese HbVar.817 ethnic Jordan HbVar.817 ethnic Israel HbVar.817 ethnic Kuwaiti HbVar.817 ethnic Oman HbVar.817 ethnic Egyptian HbVar.817 ethnic Tunisian HbVar.817 ethnic Algerian HbVar.817 ethnic Italian HbVar.817 ethnic Sardinian HbVar.817 ethnic Sicilian HbVar.817 ethnic Greek HbVar.817 ethnic Greek Cypriot HbVar.817 ethnic Turkish HbVar.817 ethnic Macedonian HbVar.817 ethnic Croatian HbVar.817 ethnic Bulgarian HbVar.817 ethnic Hungarian HbVar.817 ethnic Czechoslovakian HbVar.817 ethnic Azerbaijan HbVar.817 ethnic Russian HbVar.817 ethnic English HbVar.817 ethnic French HbVar.817 ethnic Portuguese HbVar.817 ethnic Spanish HbVar.817 ethnic Iranian HbVar.817 ethnic Pakistani HbVar.817 ethnic Maharashtran HbVar.817 ethnic Thai HbVar.817 ethnic Indonesian HbVar.817 ethnic Syria HbVar.817 ethnic Bahrein HbVar.817 ethnic Turkish Cypriots HbVar.817 ethnic Albania HbVar.817 ethnic Serbian HbVar.817 phenoCommon beta0 thalassemia HbVar.818 commonName IVS-I-1 (G->T); AG^GTTGGT->AGTTTGGT beta0 HbVar.818 ethnic Pakistani HbVar.818 ethnic Punjabi HbVar.818 ethnic Maharashtran HbVar.818 ethnic Pathan HbVar.818 ethnic Thai HbVar.818 ethnic Malaysian HbVar.818 ethnic Singapore HbVar.818 ethnic Indonesian HbVar.818 ethnic Taiwanese HbVar.818 ethnic Chinese HbVar.818 ethnic Japanese HbVar.818 ethnic Argentine HbVar.818 phenoCommon beta0 thalassemia HbVar.819 commonName IVS-I-2 (T->A); AG^GTTGGT->AGGATGGT beta0 HbVar.819 ethnic Tunisian HbVar.819 ethnic Algerian HbVar.819 ethnic Italian HbVar.819 ethnic Sicilian HbVar.819 phenoCommon beta0 thalassemia HbVar.820 commonName IVS-I-2 (T->C); AG^GTTGGT->AGACTGGT beta0 HbVar.820 ethnic Algerian HbVar.820 ethnic Russian HbVar.820 ethnic Black HbVar.820 phenoCommon beta0 thalassemia HbVar.821 commonName IVS-I-2 (T->G); AG^GTTGGT->AGGGTGGT beta0 HbVar.821 ethnic Tunisian HbVar.821 phenoCommon beta0 thalassemia HbVar.822 commonName IVS-I-5 (G->A) beta+ (severe) HbVar.822 ethnic Tunisian HbVar.822 ethnic Algerian HbVar.822 ethnic Italian HbVar.822 ethnic Greek HbVar.822 ethnic Turkish HbVar.822 ethnic Spanish HbVar.822 phenoCommon beta+ thalassemia HbVar.823 commonName IVS-I-5 (G->A) plus the Corfu deletion (deltabeta-thal) beta+ HbVar.823 ethnic Greek HbVar.823 phenoCommon beta+ thalassemia HbVar.824 commonName IVS-I-5 (G->C) beta+ (severe) HbVar.824 ethnic Lebanese HbVar.824 ethnic Jordan HbVar.824 ethnic Israel HbVar.824 ethnic Saudi Arabian HbVar.824 ethnic Kuwaiti HbVar.824 ethnic United Arab Emirates HbVar.824 ethnic Oman HbVar.824 ethnic Algerian HbVar.824 ethnic Italian HbVar.824 ethnic Sicilian HbVar.824 ethnic Turkish HbVar.824 ethnic Azerbaijan HbVar.824 ethnic Iranian HbVar.824 ethnic Pakistani HbVar.824 ethnic Punjabi HbVar.824 ethnic Maharashtran HbVar.824 ethnic Bangladesh HbVar.824 ethnic Pathan HbVar.824 ethnic Thai HbVar.824 ethnic Malaysian HbVar.824 ethnic Singapore HbVar.824 ethnic Indonesian HbVar.824 ethnic Chinese HbVar.824 ethnic Bahrein HbVar.824 ethnic Albania HbVar.824 phenoCommon beta+ thalassemia HbVar.825 commonName IVS-I-5 (G->T) beta+ (severe) HbVar.825 ethnic Turkish HbVar.825 ethnic Azerbaijan HbVar.825 ethnic Black HbVar.825 ethnic Mediterranean HbVar.825 ethnic Northern European HbVar.825 phenoCommon beta+ thalassemia HbVar.826 commonName IVS-I-6 (T->C); the Portuguese type beta+ HbVar.826 ethnic Lebanese HbVar.826 ethnic Jordan HbVar.826 ethnic Israel HbVar.826 ethnic Kuwaiti HbVar.826 ethnic United Arab Emirates HbVar.826 ethnic Egyptian HbVar.826 ethnic Tunisian HbVar.826 ethnic Algerian HbVar.826 ethnic Italian HbVar.826 ethnic Sardinian HbVar.826 ethnic Sicilian HbVar.826 ethnic Greek HbVar.826 ethnic Greek Cypriot HbVar.826 ethnic Turkish HbVar.826 ethnic Macedonian HbVar.826 ethnic Croatian HbVar.826 ethnic Bulgarian HbVar.826 ethnic Hungarian HbVar.826 ethnic Azerbaijan HbVar.826 ethnic Russian HbVar.826 ethnic English HbVar.826 ethnic French HbVar.826 ethnic Portuguese HbVar.826 ethnic Spanish HbVar.826 ethnic Iranian HbVar.826 ethnic Argentine HbVar.826 ethnic Syria HbVar.826 ethnic Turkish Cypriots HbVar.826 ethnic Albania HbVar.826 ethnic Serbian HbVar.826 phenoCommon beta+ thalassemia HbVar.827 commonName IVS-I-110 (G->A) beta+; the mutation is 21 nucleotides 5' to the acceptor splice site AG^GC HbVar.827 ethnic Lebanese HbVar.827 ethnic Jordan HbVar.827 ethnic Israel HbVar.827 ethnic Saudi Arabian HbVar.827 ethnic United Arab Emirates HbVar.827 ethnic Oman HbVar.827 ethnic Egyptian HbVar.827 ethnic Tunisian HbVar.827 ethnic Algerian HbVar.827 ethnic Italian HbVar.827 ethnic Sardinian HbVar.827 ethnic Sicilian HbVar.827 ethnic Greek HbVar.827 ethnic Greek Cypriot HbVar.827 ethnic Turkish HbVar.827 ethnic Macedonian HbVar.827 ethnic Croatian HbVar.827 ethnic Bulgarian HbVar.827 ethnic Czechoslovakian HbVar.827 ethnic Azerbaijan HbVar.827 ethnic Russian HbVar.827 ethnic English HbVar.827 ethnic French HbVar.827 ethnic Portuguese HbVar.827 ethnic Spanish HbVar.827 ethnic Iranian HbVar.827 ethnic Yemenite HbVar.827 ethnic Argentine HbVar.827 ethnic Syria HbVar.827 ethnic Bahrein HbVar.827 ethnic Turkish Cypriots HbVar.827 ethnic Albania HbVar.827 ethnic Serbian HbVar.827 phenoCommon beta+ thalassemia HbVar.828 commonName IVS-I-116 (T->G) beta0; normal mRNA estimated at less than 1.0% HbVar.828 ethnic Italian HbVar.828 ethnic Sicilian HbVar.828 ethnic Turkish HbVar.828 ethnic Syria HbVar.828 phenoCommon beta0 thalassemia HbVar.829 commonName IVS-I-128 (T->G); TTAG^GCTG->TGAG^GCTG beta+ HbVar.829 ethnic Azerbaijan HbVar.829 ethnic Punjabi HbVar.829 ethnic Taiwanese HbVar.829 ethnic Chinese HbVar.829 ethnic Saudi Arabian HbVar.829 phenoCommon beta+ thalassemia HbVar.830 commonName IVS-I-130 (G->A); TTAG^GCTG->TTAA GCTG beta0 HbVar.830 ethnic Korean HbVar.830 ethnic Egyptian HbVar.830 ethnic Turk HbVar.830 phenoCommon beta0 thalassemia HbVar.831 commonName IVS-I-130 (G->C); TTAG^GCTG->TTAC GCTG beta0 HbVar.831 ethnic Italian HbVar.831 ethnic Sicilian HbVar.831 ethnic Turkish HbVar.831 ethnic Russian HbVar.831 ethnic Portuguese HbVar.831 ethnic Japanese HbVar.831 ethnic Korean HbVar.831 phenoCommon beta0 thalassemia HbVar.832 protEffect HBA2 27(B7) Ala>Val HbVar.832 commonName Hb Campinas HbVar.832 ethnic Brazilian HbVar.832 phenoCommon Hemoglobin variant HbVar.833 protEffect HBB 31(B12) Arg>Ser HbVar.833 commonName Codon 30 (AGG->AGC) [IVS-I-130 (+1)] beta0 HbVar.833 ethnic Lebanese HbVar.833 ethnic United Arab Emirates HbVar.833 ethnic Italian HbVar.833 ethnic Sicilian HbVar.833 ethnic Bulgarian HbVar.833 ethnic Azerbaijan HbVar.833 ethnic Iranian HbVar.833 ethnic Pakistani HbVar.833 ethnic Punjabi HbVar.833 ethnic Maharashtran HbVar.833 ethnic Pathan HbVar.833 ethnic Indonesian HbVar.833 ethnic Black HbVar.833 phenoCommon beta0 thalassemia HbVar.834 commonName IVS-I, 3' end; -17 bp beta0 HbVar.834 ethnic Kuwaiti HbVar.834 phenoCommon beta0 thalassemia HbVar.835 protEffect HBB 32 (-C); modified C-terminal sequence: (32)Cys-Trp-Trp-Ser-Thr-Leu-Gly-Pro-Arg-Gly- Ser-Leu-Ser-Pro-Leu-Gly-Ile-Cys-Pro-Leu- Leu-Met-Leu-Leu-Trp-Ala-Thr-Leu-(60)Arg-COOH HbVar.835 commonName Codon 31 (-C); CTG->-TG beta0 HbVar.835 ethnic Chinese HbVar.835 phenoCommon beta0 thalassemia HbVar.836 protEffect Arg- inserted between codons 31(B12) and 32(B13) of HBB HbVar.836 commonName Codons 31/32 (+CGG) beta0 (dominant beta0-thal) HbVar.836 ethnic Spanish HbVar.836 phenoCommon beta0 thalassemia HbVar.837 protEffect HBB 34(B15) Val->0 HbVar.837 commonName Codons 33/34 (-GTG); GTG GTC(Val*Val)->GTC - - -(Val) beta0 HbVar.837 ethnic Korean HbVar.837 phenoCommon beta0 thalassemia HbVar.838 protEffect HBB 36(C1) Tyr>Stop HbVar.838 commonName Codon 35 (C->A); TAC->TAA (Tyr->Term codon) beta0 HbVar.838 ethnic Thai HbVar.838 ethnic Japanese HbVar.838 phenoCommon beta0 thalassemia HbVar.839 protEffect HBB 36 (-C); modified C-terminal sequence: (36)Tyr-Leu-Gly-Pro-Arg-Gly-Ser-Leu-Ser-Pro- Leu-Gly-Ile-Cys-Pro-Leu-Leu-Met-Leu-Leu- Trp-Ala-Thr-Leu-(60)Arg-COOH HbVar.839 commonName Codon 35 (-C); TAC(Tyr)->TA- beta0 HbVar.839 ethnic Italian HbVar.839 ethnic Singapore HbVar.839 ethnic Indonesian HbVar.839 ethnic Bahrein HbVar.839 ethnic Malay HbVar.839 phenoCommon beta0 thalassemia HbVar.840 protEffect HBB 38 (-T); modified C-terminal sequence: (38)Gly-Pro-Arg-Gly-Ser-Leu-Ser-Pro-Leu-Gly- Ile-Cys-Pro-Leu-Leu-Met-Leu-Leu-Trp-Ala- Thr-Leu-(60)Arg-COOH HbVar.840 commonName Codons 36/37 (-T); CCT TGG(Pro-Trp)->CCT -GG beta0 HbVar.840 ethnic United Arab Emirates HbVar.840 ethnic Oman HbVar.840 ethnic Bulgarian HbVar.840 ethnic Azerbaijan HbVar.840 ethnic Iranian HbVar.840 phenoCommon beta0 thalassemia HbVar.841 protEffect HBB 38(C3) Trp>Stop HbVar.841 commonName Codon 37 (G->A); TGG(Trp)->TGA(stop codon) beta0 HbVar.841 ethnic Jordan HbVar.841 ethnic Israel HbVar.841 ethnic United Arab Emirates HbVar.841 ethnic Egyptian HbVar.841 ethnic Croatian HbVar.841 ethnic Syria HbVar.841 ethnic Albania HbVar.841 phenoCommon beta0 thalassemia HbVar.842 commonName Codons 37/38/39 (-7 nts) beta0 HbVar.842 ethnic Turk HbVar.842 phenoCommon beta0 thalassemia HbVar.843 protEffect HBB 40 (-C); modified C-terminal sequence: (40)Arg-Gly-Ser-Leu-Ser-Pro-Leu-Gly-Ile-Cys- Pro-Leu-Leu-Met-Leu-Leu-Trp-Ala-Thr-Leu- (60)Arg-COOH HbVar.843 commonName Codons 38/39 (-C); ACC CAG(Thr Gln)->ACC -AG beta0 HbVar.843 ethnic Czechoslovakian HbVar.843 phenoCommon beta0 thalassemia HbVar.844 protEffect HBB 39 (-CC); modified C-terminal sequence: (39)Thr-Glu-Val-(42)Leu-COOH HbVar.844 commonName Codons 38/39 (-CC); ACC CAG(Thr-Glu)->A- - CAG beta0 HbVar.844 ethnic Belgian HbVar.844 phenoCommon beta0 thalassemia HbVar.845 protEffect HBB 40(C5) Gln>Stop HbVar.845 commonName Codon 39 (C->T); CAG(Gln)->TAG(stop codon) beta0 HbVar.845 ethnic Lebanese HbVar.845 ethnic Jordan HbVar.845 ethnic Israel HbVar.845 ethnic Saudi Arabian HbVar.845 ethnic Kuwaiti HbVar.845 ethnic United Arab Emirates HbVar.845 ethnic Oman HbVar.845 ethnic Egyptian HbVar.845 ethnic Tunisian HbVar.845 ethnic Algerian HbVar.845 ethnic Italian HbVar.845 ethnic Sardinian HbVar.845 ethnic Sicilian HbVar.845 ethnic Greek HbVar.845 ethnic Greek Cypriot HbVar.845 ethnic Turkish HbVar.845 ethnic Macedonian HbVar.845 ethnic Croatian HbVar.845 ethnic Bulgarian HbVar.845 ethnic Hungarian HbVar.845 ethnic Czechoslovakian HbVar.845 ethnic Azerbaijan HbVar.845 ethnic English HbVar.845 ethnic French HbVar.845 ethnic Portuguese HbVar.845 ethnic Spanish HbVar.845 ethnic Iranian HbVar.845 ethnic Pakistani HbVar.845 ethnic Pathan HbVar.845 ethnic Japanese HbVar.845 ethnic Argentine HbVar.845 ethnic Syria HbVar.845 ethnic Bahrein HbVar.845 ethnic Turkish Cypriots HbVar.845 ethnic Albania HbVar.845 ethnic Serbian HbVar.845 phenoCommon beta0 thalassemia HbVar.846 protEffect HBB 41 (-G); modified C-terminal sequence: (41)Ser-Ser-Leu-Ser-Pro-Leu-Gly-Ile-Cys-Pro- Leu-Leu-Met-Leu-Leu-Trp-Ala-Thr-Leu-(60)Arg-COOH HbVar.846 commonName Codon 40 (-G); AGG(Arg)->AG- beta0 HbVar.846 ethnic Japanese HbVar.846 phenoCommon beta0 thalassemia HbVar.847 protEffect HBB 42(+T); modified C-terminal sequence: (42)Phe-(43)Leu-COOH HbVar.847 commonName Codons 40/41 (+T); AGG TTC(Arg-Phe)->AGG T TTC beta0 HbVar.847 ethnic Chinese HbVar.847 phenoCommon beta0 thalassemia HbVar.848 protEffect HBB 42 (-C); modified C-terminal sequence: (42)Phe-Leu-Ser-Pro-Leu-Gly-Ile-Cys-Pro-Leu- Leu-Met-Leu-Leu-Trp-Ala-Thr-Leu-(60)Arg-COOH HbVar.848 commonName Codon 41 (-C); TTC(Phe)->TT- beta0 HbVar.848 ethnic Thai HbVar.848 phenoCommon beta0 thalassemia HbVar.849 protEffect HBB 41 - 43 (-TTCT); modified C-terminal sequence HbVar.849 commonName Codons 41/42 (-TTCT); TTCTTT(Phe-Phe)->- - - -TT beta0 HbVar.849 ethnic English HbVar.849 ethnic Pakistani HbVar.849 ethnic Punjabi HbVar.849 ethnic Thai HbVar.849 ethnic Malaysian HbVar.849 ethnic Singapore HbVar.849 ethnic Indonesian HbVar.849 ethnic Taiwanese HbVar.849 ethnic Chinese HbVar.849 ethnic Japanese HbVar.849 ethnic Korean HbVar.849 phenoCommon beta0 thalassemia HbVar.850 protEffect HBB 44(+G); modified C-terminal sequence: (44)Gly-Val-Leu-Trp-Gly-Ser-Val- His-(52)Ser-COOH HbVar.850 commonName Codons 42/43 (+G); TTT GAG(Phe Glu)->TTT G GAG beta0 HbVar.850 ethnic Japanese HbVar.850 phenoCommon beta0 thalassemia HbVar.851 protEffect HBB 44(+T); modified C-terminal sequence: (44)stop codon HbVar.851 commonName Codons 42/43 (+T) TTT GAG(Phe Glu)->TTT TGA G(Phe;stop codon) beta0 HbVar.851 ethnic Japanese HbVar.851 phenoCommon beta0 thalassemia HbVar.852 protEffect HBG2 20(B1) Asn>Lys HbVar.852 commonName Hb F-Ouled Rabah HbVar.852 ethnic Algerian HbVar.852 ethnic Moroccan HbVar.852 phenoCommon Hemoglobin variant HbVar.853 protEffect HBB 44(CD2) Glu>Stop HbVar.853 commonName Codon 43 (G->T); GAG(Glu)->TAG (stop codon) beta0 HbVar.853 ethnic Thai HbVar.853 ethnic Singapore HbVar.853 ethnic Chinese HbVar.853 phenoCommon beta0 thalassemia HbVar.854 protEffect HBB 45 (-C); modified C-terminal sequence: (45)Ser-Leu-Gly-Ile-Cys-Pro-Leu-Leu-Met-Leu- Leu-Trp-Ala-Thr-Leu-(60)Arg-COOH HbVar.854 commonName Codon 44 (-C); TCC(Ser)->TC- beta0 HbVar.854 ethnic Lebanese HbVar.854 ethnic Kuwaiti HbVar.854 ethnic United Arab Emirates HbVar.854 ethnic Oman HbVar.854 ethnic Tunisian HbVar.854 ethnic Italian HbVar.854 ethnic Bulgarian HbVar.854 ethnic Azerbaijan HbVar.854 ethnic Iranian HbVar.854 ethnic Bahrein HbVar.854 ethnic Albania HbVar.854 phenoCommon beta0 thalassemia HbVar.855 protEffect HBB 46 (-T); modified C-terminal sequence: (46)Leu-Gly-Ile-Cys-Pro-Leu-Leu-Met-Leu-Leu- Trp-Ala-Thr-Leu-(60)Arg-COOH HbVar.855 commonName Codon 45 (-T); TTT(Phe)->-TT beta0 HbVar.855 ethnic Pakistani HbVar.855 phenoCommon beta0 thalassemia HbVar.856 protEffect HBB 48(+A); modified C-terminal sequence: (48)Glu-Ser-Val- His-(52)Ser-COOH HbVar.856 commonName Codon 47 (+A); GAT(Asp)->GAA(Glu) T beta0 HbVar.856 ethnic Surinam HbVar.856 phenoCommon beta0 thalassemia HbVar.857 protEffect HBB 49(+ATCT); modified C-terminal sequence: (49)Leu-Ser-Val-His-(53)Ser-COOH HbVar.857 commonName Codons 47/48 (+ATCT); GAT CTG(Asp Leu)->GAT CTATCTG beta0 HbVar.857 ethnic Pakistani HbVar.857 ethnic Punjabi HbVar.857 ethnic Maharashtran HbVar.857 ethnic Sikh HbVar.857 phenoCommon beta0 thalassemia HbVar.858 protEffect HBB 52 (-C); modified C-terminal sequence: (52)Leu-Met-Leu-Leu-Trp-Ala-Thr-Leu-(60)Arg-COOH HbVar.858 commonName Codon 51 (-C); CCT(Pro)->-CT beta0 HbVar.858 ethnic Hungarian HbVar.858 phenoCommon beta0 thalassemia HbVar.860 protEffect HBB 55(+G); modified C-terminal sequence: (55)Gly-Tyr-Gly-Gln-(59)Pro-COOH HbVar.860 commonName 53/54 (+G); GCT GTT(Ala-Val)->GCT G GTT beta0 HbVar.860 ethnic Japanese HbVar.860 phenoCommon beta0 thalassemia HbVar.861 protEffect HBB 55 (-T); modified C-terminal sequence: (55)Val-Trp-Ala-Thr-Leu-(60)Arg-COOH HbVar.861 commonName Codon 54 (-T); GTT(Val)->GT- beta0 HbVar.861 ethnic Algerian HbVar.861 ethnic Swedish HbVar.861 phenoCommon beta0 thalassemia HbVar.862 protEffect HBB 56(+A); modified C-terminal sequence: (56)Asn-Gly-Gln-(59)Pro-COOH HbVar.862 commonName Codons 54/55 (+A); GTT ATG(Val Met)->GTT A ATG beta0 HbVar.862 ethnic Maharashtran HbVar.862 phenoCommon beta0 thalassemia HbVar.863 commonName Codons 56/57/58/59/60 (GGC AAC CCT AAG GTG); duplication of 14 bp beta0 HbVar.863 phenoCommon beta0 thalassemia HbVar.864 protEffect HBB 59(+C); modified C-terminal sequence: (59)Pro-COOH HbVar.864 commonName Codons 57/58 (+C); AAC CCT(Asn Pro)->AAC C CCT beta0 HbVar.864 ethnic Sikh HbVar.864 phenoCommon beta0 thalassemia HbVar.865 protEffect HBB 60 (-A); modified C-terminal sequence: (60)Arg-COOH HbVar.865 commonName Codon 59 (-A); AAG(Lys)->-AG beta0 HbVar.865 ethnic Italian HbVar.865 phenoCommon beta0 thalassemia HbVar.866 protEffect HBB 62(E5) Lys>Stop HbVar.866 commonName Codon 61 (A->T); AAG(Lys)->TAG(stop codon) beta0 HbVar.866 ethnic Black HbVar.866 phenoCommon beta0 thalassemia HbVar.867 protEffect HBB 65 (-G); modified C-terminal sequence: (65)Ala-Arg-Lys-Cys-Ser-Val-Pro-Leu-Val-Met- Ala-Trp-Leu-Thr-Trp-Thr-Thr-Ser-Arg-Ala- Pro-Leu-Pro-(88)His-COOH HbVar.867 commonName Codon 64 (-G); GGC(Gly)->-GC beta0 HbVar.867 ethnic Swiss HbVar.867 phenoCommon beta0 thalassemia HbVar.868 protEffect HBB 68 (-GT); modified C-terminal sequence: (68)Ala-Arg-Cys-(71)Leu-COOH HbVar.868 commonName Codon 67 (-TG); GTG(Val)->--G beta0 HbVar.868 ethnic Filipino HbVar.868 phenoCommon beta0 thalassemia HbVar.869 protEffect HBB 73(+A); modified C-terminal sequence: (73)Lys-COOH HbVar.869 commonName Codons 71/72 (+A); TTT AGT(Phe Ser)->TTT A AGT; beta0 HbVar.869 ethnic Chinese HbVar.869 ethnic East Asian HbVar.869 phenoCommon beta0 thalassemia HbVar.870 protEffect HBB 73(+T); modified C-terminal sequence: (73)stop codon HbVar.870 commonName Codons 71/72 (+T); TTT AGT(Phe Ser)->TTT T AGT beta0 HbVar.870 ethnic Thai HbVar.870 ethnic Malaysian HbVar.870 ethnic Taiwanese HbVar.870 ethnic Chinese HbVar.870 phenoCommon beta0 thalassemia HbVar.871 protEffect HBB 72 - 74 (-AGTGA); modified C-terminal sequence AND HBB 73(+T); modified C-terminal sequence HbVar.871 commonName Codons 72/73; -AGTGA, +T; AGT GAT(Ser-Asp)->---- TT beta0 HbVar.871 ethnic British HbVar.871 phenoCommon beta0 thalassemia HbVar.872 protEffect HBG2 18(A14) Lys>Asn HbVar.872 commonName Hb F-Clamart HbVar.872 ethnic French HbVar.872 phenoCommon Hemoglobin variant HbVar.873 protEffect HBB 75 (-C); modified C-terminal sequence: (75)Gly-Trp-Leu-Thr-Trp-Thr-Thr-Ser-Arg-Ala- Pro-Leu-Pro-(88)His-COOH HbVar.873 commonName Codons 74/75 (-C); GGC CTG(Gly Leu)->GG- CTG beta0 HbVar.873 ethnic Turk HbVar.873 phenoCommon beta0 thalassemia HbVar.873 phenoCommon severe Anemia HbVar.874 protEffect HBB 77 (-C); modified C-terminal sequence: (77)Val-Thr-Trp-Thr-Thr-Ser-Arg-Ala-Pro-Leu- Pro-(88)His-COOH HbVar.874 commonName Codon 76 (-C); GCT(Ala)->G-T beta0 HbVar.874 ethnic Italian HbVar.874 ethnic Sardinian HbVar.874 ethnic Sicilian HbVar.874 phenoCommon beta0 thalassemia HbVar.875 protEffect HBB 84 (-G); modified C-terminal sequence: (84)Ala-Pro-Leu-Pro-(88)His-COOH HbVar.875 commonName Codons 82/83 (-G); AAG GGC(Lys Gly)->AAG -GC beta0 HbVar.875 ethnic United Arab Emirates HbVar.875 ethnic Croatian HbVar.875 ethnic Czechoslovakian HbVar.875 ethnic Azerbaijan HbVar.875 phenoCommon beta0 thalassemia HbVar.876 protEffect HBB 86(+C); modified C-terminal sequence: (86)Leu-Cys-His-Thr-(90)Glu-COOH HbVar.876 commonName Codons 84/85 (+C); ACC TTT(Thr Phe)->ACC C TTT beta0 HbVar.876 ethnic Japanese HbVar.876 phenoCommon beta0 thalassemia HbVar.877 protEffect HBB 87(+T); modified C-terminal sequence: (87)Cys-His-Thr-(90)Glu-COOH HbVar.877 commonName Codons 84/85/86 (+T); ACC TTT GCC(Thr Phe Ala)->ACC TTT T GCC beta0 HbVar.877 ethnic Japanese HbVar.877 phenoCommon beta0 thalassemia HbVar.878 protEffect HBB 89(+T); modified C-terminal sequence: (89)Leu-(90)Glu-COOH HbVar.878 commonName Codon 88 (+T); CTG(Leu)->CTTG beta0 HbVar.878 ethnic Asian HbVar.878 phenoCommon beta0 thalassemia HbVar.879 protEffect HBB 90 (-GT); modified C-terminal sequence: (90)Arg-Ala-Ala-(93)Leu-COOH HbVar.879 commonName Codons 89/90 (-GT); AGT GAG(Ser Glu)->A-- GAG beta0 HbVar.879 ethnic Korean HbVar.879 phenoCommon beta0 thalassemia HbVar.880 protEffect HBB 91(F6) Glu>Stop HbVar.880 commonName Codon 90 (G->T); GAG(Glu)->TAG(stop codon) beta0 HbVar.880 ethnic Japanese HbVar.880 phenoCommon beta0 thalassemia HbVar.881 protEffect HBB 95(+TG); modified C-terminal sequence HbVar.881 commonName Hb Agnana HbVar.881 alias Codon 94 (+TG); GAC(Asp)->GTGAC Thalassemia intermedia HbVar.881 ethnic Italian HbVar.881 phenoCommon beta0 thalassemia HbVar.882 protEffect HBB 96(+A); modified C-terminal sequence: (96)Lys-Ala-Ala-Arg-Gly- (101)Ser-COOH HbVar.882 commonName Codon 95 (+A); AAG(Lys)->AAAG beta0 HbVar.882 ethnic Thai HbVar.882 phenoCommon beta0 thalassemia HbVar.883 protEffect HBB 101(G2) Pro->0 AND HBB 101(+TCTGAGAACTT); modified C-terminal sequence HbVar.883 commonName Codon 100; -CTT, +TCTGAGAACTT beta0 (dominant type) HbVar.883 ethnic South African HbVar.883 phenoCommon beta0 thalassemia HbVar.884 commonName IVS-II-1 (G->A); beta0 HbVar.884 ethnic Lebanese HbVar.884 ethnic Jordan HbVar.884 ethnic Israel HbVar.884 ethnic Saudi Arabian HbVar.884 ethnic Kuwaiti HbVar.884 ethnic United Arab Emirates HbVar.884 ethnic Oman HbVar.884 ethnic Egyptian HbVar.884 ethnic Italian HbVar.884 ethnic Sardinian HbVar.884 ethnic Sicilian HbVar.884 ethnic Greek HbVar.884 ethnic Turkish HbVar.884 ethnic Macedonian HbVar.884 ethnic Croatian HbVar.884 ethnic Bulgarian HbVar.884 ethnic Hungarian HbVar.884 ethnic Czechoslovakian HbVar.884 ethnic Azerbaijan HbVar.884 ethnic Russian HbVar.884 ethnic French HbVar.884 ethnic Yemenite HbVar.884 ethnic Pakistani HbVar.884 ethnic Punjabi HbVar.884 ethnic Pathan HbVar.884 ethnic Japanese HbVar.884 ethnic Korean HbVar.884 ethnic Black HbVar.884 ethnic Argentine HbVar.884 ethnic Syria HbVar.884 ethnic Bahrein HbVar.884 ethnic Albania HbVar.884 ethnic Serbian HbVar.884 ethnic Iranian HbVar.884 phenoCommon beta0 thalassemia HbVar.885 commonName IVS-II-1 (G->C); beta0 HbVar.885 ethnic Iranian HbVar.885 phenoCommon beta0 thalassemia HbVar.886 commonName IVS-II-2,3 (+11, -2); beta0 HbVar.886 ethnic Iranian HbVar.886 phenoCommon beta0 thalassemia HbVar.887 commonName IVS-II-4,5 (-AG); beta (0 or + unclear) HbVar.887 ethnic Portuguese HbVar.887 phenoCommon beta (0 or + unclear) thalassemia HbVar.888 commonName IVS-II-5 (G->C) beta+ (severe) HbVar.888 ethnic Chinese HbVar.888 phenoCommon beta+ thalassemia HbVar.889 commonName IVS-II-654 (C->T); AAGGCAATA->AAG^GTAATA beta+ (severe) HbVar.889 ethnic Russian HbVar.889 ethnic Thai HbVar.889 ethnic Malaysian HbVar.889 ethnic Singapore HbVar.889 ethnic Indonesian HbVar.889 ethnic Taiwanese HbVar.889 ethnic Chinese HbVar.889 ethnic Japanese HbVar.889 phenoCommon beta+ thalassemia HbVar.890 commonName IVS-II-705 (T->G); GATGTAAGA->GAG^GTAAGA beta+ HbVar.890 ethnic Mediterranean HbVar.890 phenoCommon beta+ thalassemia HbVar.891 commonName IVS-II-745 (C->G); CAGCTACCAT->CAG^GTACCAT beta+ HbVar.891 ethnic Lebanese HbVar.891 ethnic Jordan HbVar.891 ethnic Israel HbVar.891 ethnic Egyptian HbVar.891 ethnic Tunisian HbVar.891 ethnic Algerian HbVar.891 ethnic Italian HbVar.891 ethnic Sardinian HbVar.891 ethnic Sicilian HbVar.891 ethnic Greek HbVar.891 ethnic Greek Cypriot HbVar.891 ethnic Turkish HbVar.891 ethnic Macedonian HbVar.891 ethnic Croatian HbVar.891 ethnic Bulgarian HbVar.891 ethnic Hungarian HbVar.891 ethnic Czechoslovakian HbVar.891 ethnic Azerbaijan HbVar.891 ethnic French HbVar.891 ethnic Portuguese HbVar.891 ethnic Spanish HbVar.891 ethnic Iranian HbVar.891 ethnic Argentine HbVar.891 ethnic Syria HbVar.891 ethnic Turkish Cypriots HbVar.891 ethnic Albania HbVar.891 phenoCommon beta+ thalassemia HbVar.892 protEffect HBG2 119(GH1) Phe>Leu HbVar.892 commonName Hb F-Calabria HbVar.892 ethnic Italian HbVar.892 phenoCommon Hemoglobin variant HbVar.893 protEffect HBB 85(EF8) Thr>Ala HbVar.893 commonName Hb Saale HbVar.893 ethnic German HbVar.893 phenoCommon Hemoglobin variant HbVar.894 protEffect HBA2 59(E7) His>Gln HbVar.894 commonName Hb Boghe HbVar.894 phenoCommon Hemoglobin variant HbVar.895 commonName IVS-II-837 (T->G); beta+ or beta0 HbVar.895 ethnic Asian Indian HbVar.895 phenoCommon beta (0 or + unclear) thalassemia HbVar.896 protEffect HBA1 104(G10) His>Tyr HbVar.896 commonName Hb Charolles HbVar.896 ethnic Sardinian HbVar.896 phenoCommon Hemoglobin variant HbVar.897 commonName IVS-II-843 (T->G); beta+ HbVar.897 ethnic Algerian HbVar.897 phenoCommon beta+ thalassemia HbVar.898 commonName IVS-II-844 (C->G); beta+ HbVar.898 ethnic Italian HbVar.898 phenoCommon beta+ thalassemia HbVar.899 protEffect HBB 147(HC3) His>Tyr HbVar.899 commonName Hb Bologna-St.Orsola HbVar.899 alias Hb Hallamshire HbVar.899 ethnic Anglo-Celtic HbVar.899 ethnic Italian HbVar.899 phenoCommon Hemoglobin variant HbVar.900 protEffect HBA2 78(EF6) Pro>His HbVar.900 commonName Hb Toulon HbVar.900 ethnic French HbVar.900 phenoCommon Hemoglobin variant HbVar.901 commonName IVS-II-848 (C->A); beta+ HbVar.901 ethnic Jordan HbVar.901 ethnic United Arab Emirates HbVar.901 ethnic Egyptian HbVar.901 ethnic Tunisian HbVar.901 ethnic Algerian HbVar.901 ethnic Greek HbVar.901 ethnic Black HbVar.901 phenoCommon beta+ thalassemia HbVar.902 protEffect Ser-Asp-Leu- inserted between codons 87(F7) and 88(F8) of HBA1 or HBA2 HbVar.902 commonName Hb Neuilly-sur-Marne HbVar.902 ethnic French HbVar.902 phenoCommon Hemoglobin variant HbVar.903 protEffect HBB 109(G10) Asn>Ile HbVar.903 commonName Hb Schlierbach HbVar.903 ethnic Chinese HbVar.903 ethnic Swiss HbVar.903 phenoCommon Hemoglobin variant HbVar.904 protEffect HBB 140(H17) Asn>Thr HbVar.904 commonName Hb Sagami HbVar.904 ethnic Japanese HbVar.904 phenoCommon Hemoglobin variant HbVar.905 protEffect HBA1 38(C2) Pro->0 HbVar.905 commonName Hb Heraklion HbVar.905 ethnic Cretan HbVar.905 phenoCommon Thalassemia HbVar.906 protEffect HBA1 63(E11) Val->0 HbVar.906 commonName Hb Aghia Sophia HbVar.906 ethnic Greek HbVar.906 phenoCommon Thalassemia HbVar.907 protEffect HBB 34(B15) - 36(C1) Val-Val-Tyr->0 AND inserted Asp HbVar.907 commonName Hb Dresden HbVar.907 ethnic German HbVar.907 phenoCommon Hemoglobin variant HbVar.908 protEffect HBB 124(H1) Thr>Asn HbVar.908 commonName Hb Ernz HbVar.908 ethnic Italian HbVar.908 phenoCommon Hemoglobin variant HbVar.909 protEffect HBB 134(H11) Val>Ala HbVar.909 commonName Hb Renert HbVar.909 ethnic Jamaican HbVar.909 phenoCommon Hemoglobin variant HbVar.910 protEffect HBA1 or HBA2 21(B1) His>Pro HbVar.910 commonName Hb Anderlecht HbVar.910 ethnic Congolese HbVar.910 phenoCommon Hemoglobin variant HbVar.911 protEffect HBA2 21(B1) His>Asp HbVar.911 commonName Hb Nikaia HbVar.911 ethnic French Caucasian HbVar.911 phenoCommon Hemoglobin variant HbVar.912 protEffect HBA2 91(FG2) Lys>Arg HbVar.912 commonName Hb Clinico-Madrid HbVar.912 ethnic Spanish HbVar.912 phenoCommon Hemoglobin variant HbVar.913 protEffect HBB 2(NA1) Val>Gly HbVar.913 commonName Hb Watford HbVar.913 ethnic Ashkenazi Jews HbVar.913 phenoCommon Hemoglobin variant HbVar.914 protEffect HBA2 10(A7) Asn>Lys HbVar.914 commonName Hb Park Ridge HbVar.914 ethnic Caucasian HbVar.914 phenoCommon Hemoglobin variant HbVar.915 protEffect HBA1 or HBA2 47(CE4) Phe>Leu OR HBA2 or HBA2 47(CE4) Phe>Leu HbVar.915 commonName Hb Rockaway HbVar.915 ethnic African-American HbVar.915 phenoCommon Hemoglobin variant HbVar.916 protEffect HBA2 67(E15) Leu>Pro HbVar.916 commonName Hb Dartmouth HbVar.916 ethnic Irish HbVar.916 ethnic Scottish HbVar.916 phenoCommon Hemoglobin variant HbVar.917 protEffect HBA2 73(EF1) His>Asp HbVar.917 commonName Hb Norton HbVar.917 ethnic Caucasian HbVar.917 phenoCommon Hemoglobin variant HbVar.918 protEffect HBA1 or HBA2 88(F8) His>Pro HbVar.918 commonName Hb Grifton HbVar.918 ethnic African-American HbVar.918 phenoCommon Hemoglobin variant HbVar.919 protEffect HBA1 90(FG1) His>Gln HbVar.919 commonName Hb Buffalo HbVar.919 alias Hb Reeuwijk HbVar.919 ethnic Arabian HbVar.919 phenoCommon Hemoglobin variant HbVar.920 protEffect HBA1 96(G2) Pro>Gln HbVar.920 commonName Hb Wichita HbVar.920 phenoCommon Hemoglobin variant HbVar.921 protEffect HBA2 104(G10) His>Tyr HbVar.921 commonName Hb Lombard HbVar.921 ethnic Italian HbVar.921 phenoCommon Hemoglobin variant HbVar.922 protEffect HBA2 114(GH1) Leu>Arg HbVar.922 commonName Hb San Antonio HbVar.922 ethnic Caucasian HbVar.922 phenoCommon Hemoglobin variant HbVar.923 protEffect HBA2 124(H6) Ala>Thr HbVar.923 commonName Hb Santa Barnabas HbVar.923 alias Hb Croxley Green HbVar.923 ethnic English HbVar.923 phenoCommon Hemoglobin variant HbVar.924 protEffect HBA1 or HBA2 85(F5) Ser>Gly HbVar.924 commonName Hb Wembley HbVar.924 ethnic West Indian HbVar.924 phenoCommon Hemoglobin variant HbVar.925 protEffect HBB 22(B3) Asp>Val HbVar.925 commonName Hb Rocky Mountain HbVar.925 alias Hb Paddington HbVar.925 ethnic Arabian HbVar.925 phenoCommon Hemoglobin variant HbVar.926 protEffect HBB 40(C5) Gln>His HbVar.926 commonName Hb San Bruno HbVar.926 ethnic African-American HbVar.926 phenoCommon Hemoglobin variant HbVar.927 protEffect HBB 98(FG4) His>Asn HbVar.927 commonName Hb Santa Clara HbVar.927 ethnic Mexican HbVar.927 phenoCommon Hemoglobin variant HbVar.928 protEffect HBB 109(G10) Asn>Ser HbVar.928 commonName Hb Santa Juana HbVar.928 alias Hb Serres HbVar.928 ethnic Greek HbVar.928 ethnic Mexican HbVar.928 phenoCommon Hemoglobin variant HbVar.929 protEffect HBB 143(H20) Ala>Thr HbVar.929 commonName Hb Inglewood HbVar.929 ethnic African-American HbVar.929 phenoCommon Hemoglobin variant HbVar.930 protEffect HBA1 127(H9) Asp>Glu HbVar.930 commonName Hb Burlington HbVar.930 ethnic Italian HbVar.930 phenoCommon Hemoglobin variant HbVar.931 protEffect HBB 135(H12) Val>Ala HbVar.931 commonName Hb Yaounde HbVar.931 alias Hb Mataro HbVar.931 ethnic Cameroonian HbVar.931 ethnic Portuguese HbVar.931 phenoCommon Hemoglobin variant HbVar.932 protEffect HBB 101(G2) Pro>Ala HbVar.932 commonName Hb Nice HbVar.932 ethnic Mediterranean HbVar.932 phenoCommon Hemoglobin variant HbVar.935 protEffect HBB 48(CD6) Asp>Val HbVar.935 commonName Hb Muravera HbVar.935 ethnic Sardinian HbVar.935 phenoCommon Hemoglobin variant HbVar.936 protEffect HBA1 62(E10) Lys->0 HbVar.936 commonName Hb Clinic HbVar.936 ethnic Spanish HbVar.936 phenoCommon Thalassemia HbVar.937 protEffect HBA2 113(G19) His>Gln AND HBA2 114(GH1) - 117(GH4) Leu-Pro-Ala-Glu->0 HbVar.937 commonName Hb Lleida HbVar.937 alias Codons 112-116 deletion of 12 nts of the alpha2 gene; alpha-Thal-2 HbVar.937 ethnic Spanish HbVar.937 phenoCommon alpha-2 thalassemia HbVar.938 commonName IVS-II-848 (C->G); beta+ HbVar.938 ethnic Macedonian HbVar.938 ethnic Croatian HbVar.938 ethnic Japanese HbVar.938 phenoCommon beta+ thalassemia HbVar.939 commonName IVS-II-849 (A->C); beta0 HbVar.939 ethnic Black HbVar.939 phenoCommon beta0 thalassemia HbVar.940 commonName IVS-II-849 (A->G); beta0 HbVar.940 ethnic Black HbVar.940 phenoCommon beta0 thalassemia HbVar.941 commonName IVS-II-850 (-G); beta0 HbVar.941 ethnic Italian HbVar.941 phenoCommon beta0 thalassemia HbVar.942 commonName IVS-II-850 (G->A); beta0 HbVar.942 ethnic Northern European HbVar.942 phenoCommon beta0 thalassemia HbVar.943 commonName IVS-II-850 (G->C); beta0 HbVar.943 ethnic Croatian HbVar.943 phenoCommon beta0 thalassemia HbVar.944 commonName IVS-II-850 (G->T); beta0 HbVar.944 ethnic Japanese HbVar.944 phenoCommon beta0 thalassemia HbVar.945 protEffect HBB 108(+G); modified C-terminal sequence: (108)Gly-Gln-Arg- Ala-Gly-Leu-Cys-Ala-Gly-Pro-Ser-Leu-Trp- Gln-Arg-Ile-His-Pro-Thr-Ser-Ala-Gly-Cys- Leu-Ser-Glu-Ser-Gly-Gly-Trp-Cys-(139)Gly-COOH HbVar.945 commonName Codons 106/107 (+G); CTG GGC(Leu Gly)->CTG G GC beta0 HbVar.945 ethnic Egyptian HbVar.945 ethnic Black HbVar.945 phenoCommon beta0 thalassemia HbVar.946 protEffect HBB 109(G10) - 113(G14) Asn-Val-Leu-Val-Cys->0 AND inserted Ser HbVar.946 commonName Codons 108/109/110/111/112 (-12 bp); beta0 HbVar.946 ethnic Swedish HbVar.946 phenoCommon beta0 thalassemia HbVar.947 protEffect HBB 110 (-G); modified C-terminal sequence: (110)Cys-Trp-Ser-Val-Cys-Trp-Pro-Ile-Thr-Leu- Ala-Lys-Asn-Ser-Pro-His-Gln-Cys-Arg-Leu- Pro-Ile-Arg-Lys-Trp-Trp-Leu-Val-Trp-Leu- Met-Pro-Trp-Pro-Thr-Ser-Ile-Thr-Lys-Leu- Ala-Phe-Leu-Leu-Ser-Asn-Phe-(157)Tyr-COOH HbVar.947 commonName Hb Manhattan HbVar.947 alias Codon 109 (-G); GTG(Val)->-TG beta0 HbVar.947 ethnic Lithuanian Ashkenazi HbVar.947 phenoCommon beta0 thalassemia HbVar.948 protEffect HBB 113(G14) Cys>Stop HbVar.948 commonName Codon 112 (T->A); TGT(Cys)->TGA(stop codon) beta0 HbVar.948 ethnic Slovakian HbVar.948 phenoCommon beta0 thalassemia HbVar.949 protEffect HBB 115 (-CT); modified C-terminal sequence AND HBB 115(+G); modified C-terminal sequence HbVar.949 commonName Hb Geneva HbVar.949 alias Codon 114 (-CT; +G); CTG(Leu)->-GG beta0 (dominant beta-thal trait) HbVar.949 ethnic Swiss HbVar.949 phenoCommon beta0 thalassemia HbVar.950 protEffect HBB 122(+A); modified C-terminal sequence: (122)Arg-Ile-His-Pro-Thr-Ser-Ala-Gly-Cys- Leu-Ser-Glu-Ser-Gly-Gly-Trp-Cys-(139)Gly-COOH HbVar.950 commonName Codons 120/121 (+A); AAA GAA(Lys-Glu)->AAA A GAA beta0 (mild dominant type of beta-thal) HbVar.950 ethnic Filipino HbVar.950 phenoCommon beta0 thalassemia HbVar.951 protEffect HBB 122(GH4) Glu>Stop HbVar.951 commonName Codon 121 (G->T); GAA(Glu)->TAA(stop codon) beta0 (dominant beta-thal trait) HbVar.951 ethnic Czechoslovakian HbVar.951 ethnic English HbVar.951 ethnic Japanese HbVar.951 ethnic Korean HbVar.951 ethnic Greek Cypriot HbVar.951 phenoCommon beta0 thalassemia HbVar.952 protEffect HBB 124 (-A); modified C-terminal sequence: (124)Pro-His-Gln-Cys-Arg-Leu-Pro-Ile-Arg-Lys- Trp-Trp-Leu-Val-Trp-Leu-Met-Pro-Trp-Pro- Thr-Ser-Ile-Thr-Lys-Leu-Ala-Phe-Leu-Leu- Ser-Asn-Phe-(157)Tyr-COOH HbVar.952 commonName Hb Makabe HbVar.952 alias Codon 123 (-A); ACC(Thr)->-CC Dominant inclusion body beta-thal trait HbVar.952 ethnic Japanese HbVar.952 phenoCommon beta0 thalassemia HbVar.953 protEffect HBB 124 - 126 (-ACCCCACCA); modified C-terminal sequence: (124)Val-Gln-Ala-Ala-Tyr-Gln-Lys-Val-Val-Ala- Gly-Val-Ala-Asn-Ala-Leu-Ala-His-Lys-Tyr- (144)His-COOH HbVar.953 commonName Codons 123/124/125 (-ACCCCACC); Dominant inclusion body beta-thal trait HbVar.953 ethnic Thai HbVar.953 phenoCommon beta0 thalassemia HbVar.954 protEffect HBB 125 (-A); modified C-terminal sequence: (125)Pro-Gln-Cys-Arg-Leu-Pro-Ile-Arg-Lys-Trp- Trp-Leu-Val-Trp-Leu-Met-Pro-Trp-Pro-Thr- Ser-Ile-Thr-Lys-Leu-Ala-Phe-Leu-Leu-Ser- Asn-Phe-(157)Tyr-COOH HbVar.954 commonName Codon 124 (-A); CCA(Pro)->CC- Dominant, inclusion body beta-thal trait HbVar.954 ethnic Russian HbVar.954 phenoCommon beta0 thalassemia HbVar.955 protEffect HBB 126 (-A); modified C-terminal sequence: (126)Pro-Cys-Arg-Leu-Pro-Ile-Arg-Lys-Trp-Trp- Leu-Val-Trp-Leu-Met-Pro-Trp-Pro-Thr-Ser- Ile-Thr-Lys-Leu-Ala-Phe-Leu-Leu-Ser-Asn- Phe-(157)Tyr-COOH HbVar.955 commonName Codon 125 (-A); CCA(Pro)->CC- Dominant inclusion body beta-thal trait HbVar.955 ethnic Japanese HbVar.955 phenoCommon beta0 thalassemia HbVar.956 protEffect Pro- inserted between codons 126(H3) and 127(H4) of HBB HbVar.956 commonName Codons 124-126 (+CCA); Dominant inclusion body beta-thal trait HbVar.956 ethnic Russian HbVar.956 ethnic Armenian HbVar.956 phenoCommon beta0 thalassemia HbVar.957 protEffect HBB 127 (-T); modified C-terminal sequence: (127)Gly-Arg-Leu-Pro-Ile-Arg-Lys-Trp-Trp-Leu- Val-Trp-Leu-Met-Pro-Trp-Pro-Thr-Ser-Ile- Thr-Lys-Leu-Ala-Phe-Leu-Leu-Ser-Asn-Phe- (157)Tyr-COOH HbVar.957 commonName Hb Vercelli HbVar.957 alias Codon 126 (-T); GTG(Val)->G-G beta0 HbVar.957 ethnic Italian HbVar.957 phenoCommon beta0 thalassemia HbVar.958 protEffect HBB 127 - 132 (-TGCAGGCTGCCTATCAG); modified C-terminal sequence: (127)Glu-Ser-Gly-Gly-Trp-Cys-(133)Gly-COOH HbVar.958 commonName Codons 126-131 (Val-Gln-Ala-Ala-Thr-Gln) (-17 bp); GTG CAG GCT GCC TAT CAG->G beta0 HbVar.958 ethnic Pakistani HbVar.958 ethnic Pathan HbVar.958 phenoCommon beta0 thalassemia HbVar.959 protEffect HBB 128(H5) Gln>Pro HbVar.959 commonName Codon 127 (A->C); CAG(Gln)->CCG(Pro) Dominant inclusion body beta-thal trait HbVar.959 ethnic English HbVar.959 phenoCommon beta0 thalassemia HbVar.960 protEffect HBB 128(H5) Gln>Arg HbVar.960 commonName Codon 127 (A->G); CAG(Gln)->CGG(Arg) Dominant inclusion body beta-thal trait HbVar.960 ethnic French HbVar.960 phenoCommon beta0 thalassemia HbVar.961 protEffect HBB 128(H5) Gln>Stop HbVar.961 commonName Codon 127 (C->T); CAG(Gln)->TAG(stop codon) beta0 (dominant, inclusion body, beta-thal trait) HbVar.961 ethnic English HbVar.961 phenoCommon beta0 thalassemia HbVar.962 protEffect HBB 128(H5) - 129(H6) Gln-Ala->0 AND inserted Pro HbVar.962 commonName Codons 127/128 (-AGG); CAG GCT(Gln Ala)->C--- CT(Pro) beta0 HbVar.962 ethnic Japanese HbVar.962 phenoCommon beta0 thalassemia HbVar.963 protEffect HBB 128 - 130 (-GCTG); modified C-terminal sequence AND HBB 132 - 136 (-AAAGTGGTGGC); modified C-terminal sequence AND HBB 129(+CCACA); modified C-terminal sequence HbVar.963 commonName Codons 128/129 (-4, -GCTG; +5, +CCACA) Codons 132-135 (-11, -AAAGTGGTGGC) Dominant inclusion body beta-thal trait HbVar.963 ethnic Irish HbVar.963 phenoCommon beta0 thalassemia HbVar.964 protEffect HBB 134 - 138 (-TGGCTGGTGT); modified C-terminal sequence AND HBB 135(+GCAG); modified C-terminal sequence HbVar.964 commonName Codons 134-137 [-(G)TGGCTGGTGT(G) and +(G)GCAG(G)]; Dominant inclusion body beta-thal trait HbVar.964 ethnic Portuguese HbVar.964 phenoCommon beta0 thalassemia HbVar.965 commonName +1480 (C->G); beta+ (silent; only expressed in compound heterozygotes) HbVar.965 alias 3' terminating codon +6 (C->G) beta+ HbVar.965 ethnic Greek HbVar.965 phenoCommon beta+ thalassemia HbVar.966 commonName 3'UTR (-GCATCTGGATTCT) beta (0 or + unclear) HbVar.966 ethnic Turk HbVar.966 phenoCommon beta (0 or + unclear) thalassemia HbVar.967 commonName T->C; 12 nts 5' to the poly A site or +1570 (the number is relative to the Cap site) beta+ HbVar.967 ethnic Irish HbVar.967 phenoCommon beta+ thalassemia HbVar.968 commonName Poly A (T->C); AATAAA->AACAAA beta+ HbVar.968 ethnic Black HbVar.968 ethnic Turk HbVar.968 phenoCommon beta+ thalassemia HbVar.969 commonName Poly A (A->G); AATAAA->AATGAA beta+ HbVar.969 ethnic Greek HbVar.969 ethnic Macedonian HbVar.969 ethnic Bulgarian HbVar.969 ethnic Albania HbVar.969 phenoCommon beta+ thalassemia HbVar.970 commonName Poly A (A->G); AATAAA->AATAGA beta+ HbVar.970 ethnic Malaysian HbVar.970 ethnic Singapore HbVar.970 phenoCommon beta+ thalassemia HbVar.971 commonName Poly A (A->G); AATAAA->AATAAG beta+ HbVar.971 ethnic United Arab Emirates HbVar.971 ethnic Kurdish Jewish HbVar.971 phenoCommon beta+ thalassemia HbVar.972 commonName Poly A (-AT or -TA); AATAAA->A--AAA beta+ HbVar.972 ethnic French HbVar.972 phenoCommon beta+ thalassemia HbVar.973 commonName Poly A (-AATAA); AATAAA->-----A beta+ HbVar.973 ethnic Arabian HbVar.973 phenoCommon beta+ thalassemia HbVar.974 commonName 25 bp deletion beta0 HbVar.974 ethnic Lebanese HbVar.974 ethnic Kuwaiti HbVar.974 ethnic United Arab Emirates HbVar.974 ethnic Oman HbVar.974 ethnic Iranian HbVar.974 ethnic Pakistani HbVar.974 ethnic Syria HbVar.974 ethnic Bahrein HbVar.974 phenoCommon beta0 thalassemia HbVar.975 commonName 44 bp deletion beta0 HbVar.975 ethnic Greek HbVar.975 ethnic Macedonian HbVar.975 phenoCommon beta0 thalassemia HbVar.976 commonName 105 bp deletion beta0 HbVar.976 ethnic Thai HbVar.976 phenoCommon beta0 thalassemia HbVar.977 commonName 290 bp deletion beta0 HbVar.977 ethnic Lebanese HbVar.977 ethnic Turkish HbVar.977 phenoCommon beta0 thalassemia HbVar.978 commonName 532 bp deletion beta0 HbVar.978 ethnic Black HbVar.978 phenoCommon beta0 thalassemia HbVar.979 commonName 619 bp deletion beta0 HbVar.979 ethnic Oman HbVar.979 ethnic Pakistani HbVar.979 ethnic Maharashtran HbVar.979 ethnic Pathan HbVar.979 ethnic Thai HbVar.979 phenoCommon beta0 thalassemia HbVar.980 commonName 1,393 bp deletion beta0 HbVar.980 ethnic Black HbVar.980 phenoCommon beta0 thalassemia HbVar.981 commonName 1,605 bp deletion the Croatian deletion beta0 HbVar.981 ethnic Croatian HbVar.981 phenoCommon beta0 thalassemia HbVar.987 commonName 12,620 bp deletion; the Dutch deletion beta0 HbVar.987 ethnic Dutch HbVar.987 phenoCommon beta0 thalassemia HbVar.989 commonName ~45 kb deletion; the Filipino deletion beta0 HbVar.989 ethnic Filipino HbVar.989 ethnic Indonesian HbVar.989 ethnic Malay HbVar.989 phenoCommon beta0 thalassemia HbVar.991 commonName -77 (T->C) delta (0 or + unclear) HbVar.991 ethnic Japanese HbVar.991 phenoCommon delta (0 or + unclear) thalassemia HbVar.992 commonName -65 (A->G) delta+ HbVar.992 ethnic Greek HbVar.992 ethnic Cypriot HbVar.992 phenoCommon delta+ thalassemia HbVar.993 commonName -55 (T->C) delta+ HbVar.993 ethnic Greek HbVar.993 ethnic Cypriot HbVar.993 phenoCommon delta+ thalassemia HbVar.994 commonName -36 (C->A); probably delta+ HbVar.994 ethnic Greek HbVar.994 phenoCommon delta+ thalassemia HbVar.995 protEffect HBD 5(A1) Thr>Ile HbVar.995 commonName Codon 4 (ACT->ATT) delta+ HbVar.995 ethnic Greek HbVar.995 ethnic Cypriot HbVar.995 phenoCommon delta+ thalassemia HbVar.996 protEffect HBD 31(B12) Arg>Thr HbVar.996 commonName Codon 30 (AGG->ACG) delta0 HbVar.996 ethnic Italian HbVar.996 phenoCommon delta0 thalassemia HbVar.997 commonName IVS-I-2 (T->C) delta0 HbVar.997 ethnic Italian HbVar.997 phenoCommon delta0 thalassemia HbVar.998 protEffect HBD 38(C3) Trp>Stop HbVar.998 commonName Codon 37 (TGG->TAG) delta0 HbVar.998 ethnic Sardinian HbVar.998 phenoCommon delta0 thalassemia HbVar.999 protEffect HBD 60 (-A); modified C-terminal sequence: (60)Arg-COOH HbVar.999 commonName Codon 59 (-A); AAG(Lys)->-AG delta0 HbVar.999 ethnic Egyptian HbVar.999 phenoCommon delta0 thalassemia HbVar.1000 protEffect HBD 91(+T); modified C-terminal sequence: (91)stop codon HbVar.1000 commonName Codon 91 (+T) delta0 HbVar.1000 ethnic Belgian HbVar.1000 phenoCommon delta0 thalassemia HbVar.1001 commonName IVS-II-897, A->C; AG^CT->CGCT delta0 HbVar.1001 ethnic Greek HbVar.1001 ethnic Cypriot HbVar.1001 phenoCommon delta0 thalassemia HbVar.1002 protEffect HBD 117(G18) Arg>Cys HbVar.1002 commonName Codon 116 (CGC->TGC) delta+ HbVar.1002 ethnic Greek HbVar.1002 ethnic Cypriot HbVar.1002 phenoCommon delta+ thalassemia HbVar.1003 protEffect HBD 142(H19) Leu>Pro HbVar.1003 commonName Codon 141 (CTG->CCG) delta (0 or + unclear) HbVar.1003 ethnic Greek HbVar.1003 ethnic Cypriot HbVar.1003 phenoCommon delta (0 or + unclear) thalassemia HbVar.1004 commonName Poly A +69 (G->A) delta HbVar.1004 ethnic Sardinian HbVar.1004 phenoCommon delta (0 or + unclear) thalassemia HbVar.1005 commonName -7.2 kb; the Corfu deletion delta0 HbVar.1005 ethnic Greek HbVar.1005 ethnic Italian HbVar.1005 phenoCommon delta0 thalassemia HbVar.1006 commonName -202 (C->G) Ggamma; nd-HPFH HbVar.1006 ethnic Black HbVar.1006 phenoCommon HPFH thalassemia HbVar.1007 commonName -202 (C->T) Agamma; nd-HPFH HbVar.1007 ethnic Black HbVar.1007 phenoCommon HPFH thalassemia HbVar.1009 commonName -198 (T->C) Agamma; the British nd-HPFH HbVar.1009 ethnic British HbVar.1009 ethnic Australian HbVar.1009 phenoCommon HPFH thalassemia HbVar.1010 commonName -196 (C->T) Agamma; the Italian nd-HPFH HbVar.1010 ethnic Italian HbVar.1010 phenoCommon HPFH thalassemia HbVar.1011 commonName -195 (C->G) Agamma; the Brazilian nd-HPFH HbVar.1011 ethnic Brazilian HbVar.1011 phenoCommon HPFH thalassemia HbVar.1012 commonName -175 (T->C) Ggamma; nd-HPFH HbVar.1012 ethnic Black HbVar.1012 phenoCommon HPFH thalassemia HbVar.1013 commonName -175 (T->C) Agamma; the Black nd-HPFH HbVar.1013 ethnic Black HbVar.1013 phenoCommon HPFH thalassemia HbVar.1014 commonName -117 (G->A) Agamma; the Greek-Italian nd-HPFH HbVar.1014 ethnic Greek HbVar.1014 ethnic Italian HbVar.1014 phenoCommon HPFH thalassemia HbVar.1015 commonName -117 (G->A) Agamma; the Black-Greek nd-HPFH HbVar.1015 ethnic Black HbVar.1015 phenoCommon HPFH thalassemia HbVar.1016 commonName -114 (C->G) Ggamma; the Australian nd-HPFH HbVar.1016 ethnic Australian HbVar.1016 phenoCommon HPFH thalassemia HbVar.1017 commonName -114 (C->T) Ggamma; the Japanese nd-HPFH HbVar.1017 ethnic Japanese HbVar.1017 phenoCommon HPFH thalassemia HbVar.1018 commonName -114 (C->T) Agamma; the Georgia nd-HPFH HbVar.1018 ethnic Black HbVar.1018 phenoCommon HPFH thalassemia HbVar.1019 commonName -110 (A->C) Ggamma; the Czech nd-HPFH HbVar.1019 ethnic Czechoslovakian HbVar.1019 phenoCommon HPFH thalassemia HbVar.1020 commonName The 13 bp deletion (-CAATAGCCTTGAC at -114 through -102); HPFH HbVar.1020 ethnic Black HbVar.1020 phenoCommon HPFH thalassemia HbVar.1021 commonName HPFH-1; Black HbVar.1021 ethnic Black HbVar.1021 phenoCommon HPFH thalassemia HbVar.1021 phenoCommon mild Erythrocytosis HbVar.1022 commonName HPFH-2; Ghanaian HbVar.1022 ethnic Black HbVar.1022 ethnic Ghanaian HbVar.1022 phenoCommon HPFH thalassemia HbVar.1022 phenoCommon mild Erythrocytosis HbVar.1023 commonName HPFH-3; Indian HbVar.1023 ethnic Indian HbVar.1023 phenoCommon HPFH thalassemia HbVar.1028 commonName Indian GgammaAgamma(deltabeta)0-Thal HbVar.1028 ethnic Indian HbVar.1028 phenoCommon (delta-beta)0 thalassemia HbVar.1029 commonName Japanese (deltabeta)0-Thal HbVar.1029 ethnic Japanese HbVar.1029 phenoCommon (delta-beta)0 thalassemia HbVar.1030 commonName Spanish (deltabeta)0-Thal HbVar.1030 ethnic Spanish HbVar.1030 phenoCommon (delta-beta)0 thalassemia HbVar.1030 phenoCommon chronic Anemia HbVar.1030 phenoCommon hemolytic Anemia HbVar.1030 phenoCommon mild Anemia HbVar.1031 commonName Black (deltabeta)0-Thal HbVar.1031 ethnic Black HbVar.1031 phenoCommon (delta-beta)0 thalassemia HbVar.1035 commonName Sicilian (deltabeta)0-Thal HbVar.1035 ethnic Mediterranean HbVar.1035 ethnic Sicilian HbVar.1035 ethnic Italian HbVar.1035 ethnic Yugoslavian HbVar.1035 ethnic Hungarian HbVar.1035 ethnic Greek HbVar.1035 ethnic Turk HbVar.1035 ethnic Israel HbVar.1035 ethnic Egyptian HbVar.1035 phenoCommon (delta-beta)0 thalassemia HbVar.1039 commonName German Ggamma(Agammadeltabeta)0-Thal HbVar.1039 ethnic German HbVar.1039 phenoCommon (Agamma-delta-beta)0 thalassemia HbVar.1042 commonName Turkish Ggamma(Agammadeltabeta)0-Thal HbVar.1042 ethnic Turk HbVar.1042 phenoCommon (Agamma-delta-beta)0 thalassemia HbVar.1042 phenoCommon moderate Anemia HbVar.1043 commonName Malay-2 Ggamma(Agammadeltabeta)0-Thal HbVar.1043 ethnic Malay HbVar.1043 phenoCommon (Agamma-delta-beta)0 thalassemia HbVar.1043 phenoCommon moderate Anemia HbVar.1043 phenoCommon mild Hypochromia HbVar.1043 phenoCommon few Target cells HbVar.1043 phenoCommon Jaundice HbVar.1045 commonName Black Ggamma(Agammadeltabeta)0-Thal HbVar.1045 ethnic Black HbVar.1045 phenoCommon (Agamma-delta-beta)0 thalassemia HbVar.1046 commonName Chinese Ggamma(Agammadeltabeta)0-Thal HbVar.1046 ethnic Chinese HbVar.1046 phenoCommon (Agamma-delta-beta)0 thalassemia HbVar.1048 commonName HPFH-6 HbVar.1048 alias Thai Ggamma(Agammadeltabeta)0-Thal HbVar.1048 ethnic Thai HbVar.1048 phenoCommon HPFH thalassemia HbVar.1052 commonName Anglo-Saxon (epsilon-gamma-delta-beta)0-Thal HbVar.1052 ethnic Anglo-Saxon HbVar.1052 phenoCommon (epsilon-gamma-delta-beta)0 thalassemia HbVar.1055 commonName Irish (epsilon-gamma-delta-beta)0-Thal HbVar.1055 ethnic Irish HbVar.1055 phenoCommon (epsilon-gamma-delta-beta)0 thalassemia HbVar.1056 commonName Dutch (epsilon-gamma-delta-beta)0-Thal HbVar.1056 ethnic Dutch HbVar.1056 phenoCommon (epsilon-gamma-delta-beta)0 thalassemia HbVar.1058 commonName Hispanic (epsilon-gamma-delta-beta)0-Thal HbVar.1058 ethnic Hispanic HbVar.1058 phenoCommon (epsilon-gamma-delta-beta)0 thalassemia HbVar.1059 commonName Initiation codon (A->G); of an alpha2alpha1 hybrid gene -alpha(-3.7 kb) alpha-Thal-1 HbVar.1059 ethnic Black HbVar.1059 phenoCommon alpha-1 thalassemia HbVar.1061 protEffect HBA2 Initiation codon Met>Thr HbVar.1061 commonName Initiation codon (T->C); ATG->ACG of the alpha2 gene alpha-Thal-2 HbVar.1061 ethnic Italian HbVar.1061 phenoCommon alpha-2 thalassemia HbVar.1061 phenoCommon marked Anemia HbVar.1061 phenoCommon marked Microcytosis HbVar.1062 protEffect HBA2 Initiation codon Met->0 HbVar.1062 commonName Initiation codon (-T); ATG->A-G of the alpha2 gene alpha-Thal-2 HbVar.1062 ethnic Vietnamese HbVar.1062 phenoCommon alpha-2 thalassemia HbVar.1063 commonName Initiation codon (A->G); ATG->GTG of the alpha1 gene alpha-Thal-2 HbVar.1063 ethnic Sardinian HbVar.1063 phenoCommon alpha-2 thalassemia HbVar.1065 commonName IVS-I donor site (GAG GTG AGG->GAG G- - - - -); alpha2-globin gene HbVar.1065 alias alpha-thal-2 (-5nt) HbVar.1065 ethnic Mediterranean HbVar.1065 phenoCommon alpha-2 thalassemia HbVar.1066 commonName IVS-I-116 (A->G) alpha2 gene; alpha-Thal-2 HbVar.1066 ethnic Dutch HbVar.1066 phenoCommon alpha-2 thalassemia HbVar.1067 commonName IVS-I-117 (G->A) alpha1 gene; alpha-Thal-2 HbVar.1067 ethnic Indian HbVar.1067 phenoCommon alpha-2 thalassemia HbVar.1068 protEffect HBA1 52 - 56 (-GCTCTGCCCAGGT); modified C-terminal sequence: (52)Val-Arg-Ala-Thr-Ala-Arg-Arg-Trp-Pro-Thr- (62)Arg-COOH HbVar.1068 commonName Deletion of 13 nts from codons 51-55 of the alpha1 gene; alpha-Thal-2 HbVar.1068 ethnic Spanish HbVar.1068 phenoCommon alpha-2 thalassemia HbVar.1069 protEffect HBA2 117(GH4) Glu>Stop HbVar.1069 commonName Codon 116 (G->T) of the alpha2 gene; GAG->TAG alpha-Thal-2 HbVar.1069 ethnic Black HbVar.1069 phenoCommon alpha-2 thalassemia HbVar.1070 commonName Poly A (A->G); AATAAA->AATAAG of the alpha2 gene alpha-Thal-2 HbVar.1070 ethnic Arabian HbVar.1070 phenoCommon alpha-2 thalassemia HbVar.1071 commonName Poly A (A->G); AATAAA->AATGAA of the alpha2 gene alpha-Thal-2 HbVar.1071 ethnic Turk HbVar.1071 ethnic Cypriot HbVar.1071 ethnic Kuwaiti HbVar.1071 phenoCommon alpha-2 thalassemia HbVar.1072 commonName Poly A; AATAAA->AATA- - of the alpha2 gene alpha-thal-2 HbVar.1072 ethnic Indian HbVar.1072 phenoCommon alpha-2 thalassemia HbVar.1073 commonName 3'UTR (-16 bp) alpha2 gene; alpha-Thal-2 HbVar.1073 ethnic Arabian HbVar.1073 phenoCommon alpha-2 thalassemia HbVar.1074 commonName 2.7 kb deletion involving the alpha1 gene alpha-Thal-2 HbVar.1074 ethnic Chinese HbVar.1074 phenoCommon alpha-2 thalassemia HbVar.1075 commonName 3.5 kb deletion involving the alpha1 gene alpha-Thal-2 HbVar.1075 ethnic Indian HbVar.1075 phenoCommon alpha-2 thalassemia HbVar.1076 commonName 3.7 kb (type I) deletion alpha-2 HbVar.1076 ethnic Indian HbVar.1076 ethnic Far East HbVar.1076 ethnic African HbVar.1076 ethnic Mediterranean HbVar.1076 phenoCommon alpha-2 thalassemia HbVar.1080 commonName 5.3 kb deletion; alpha-Thal-2 HbVar.1080 ethnic Italian HbVar.1080 phenoCommon alpha-2 thalassemia HbVar.1083 commonName - -(GEO); 8.5 kb deletion including the alpha2- and alpha1- globin genes alpha-Thal-1 HbVar.1083 ethnic Black HbVar.1083 phenoCommon alpha-1 thalassemia HbVar.1084 commonName - -(SPAN); deletion of 10.5-12.0 kb including both alpha-globin genes alpha-Thal-1 HbVar.1084 ethnic Spanish HbVar.1084 phenoCommon alpha-1 thalassemia HbVar.1085 commonName - -(CANT); a deletion of 14.0-15.4 kb removing both alpha-globin genes alpha-Thal-1 HbVar.1085 ethnic Spanish HbVar.1085 phenoCommon alpha-1 thalassemia HbVar.1086 commonName - -(SEA); deletion of ~20 kb including both alpha-globin genes alpha-Thal-1 HbVar.1086 ethnic East Asian HbVar.1086 phenoCommon alpha-1 thalassemia HbVar.1087 commonName - -(MED-I); deletion of ~17.5 kb including both alpha-globin genes alpha-Thal-1 HbVar.1087 ethnic Mediterranean HbVar.1087 phenoCommon alpha-1 thalassemia HbVar.1088 commonName -(alpha)20.5; this 20.5 kb deletion involves alpha2 and the 5' end of alpha1; alpha-Thal-1 HbVar.1088 ethnic Mediterranean HbVar.1088 ethnic Central Asian HbVar.1088 phenoCommon alpha-1 thalassemia HbVar.1089 commonName - -(MA); deletion of ~22 kb involving both alpha genes alpha-Thal-1 HbVar.1089 ethnic Spanish HbVar.1089 phenoCommon alpha-1 thalassemia HbVar.1090 commonName - -(SA); deletion of 22.8-23.7 kb involving both alpha-globin genes; alpha-Thal-1 HbVar.1090 ethnic South African HbVar.1090 phenoCommon alpha-1 thalassemia HbVar.1091 commonName - -(BRIT); deletion of ~26 kb involving both alpha genes alpha-Thal-1 HbVar.1091 ethnic British HbVar.1091 ethnic Black HbVar.1091 phenoCommon alpha-1 thalassemia HbVar.1093 commonName - -(CL); deletion of at least 40 kb involving the two alpha and zeta genes alpha-Thal-1 HbVar.1093 phenoCommon alpha-1 thalassemia HbVar.1094 commonName - -(FIL); a deletion of 30-34 kb involving the alpha1, alpha2, and zeta genes alpha-Thal-1 HbVar.1094 ethnic Filipino HbVar.1094 phenoCommon alpha-1 thalassemia HbVar.1095 commonName - -(THAI); a deletion of 34-38 kb involving the alpha1, alpha2, and zeta genes alpha-Thal-1 HbVar.1095 ethnic Thai HbVar.1095 phenoCommon alpha-1 thalassemia HbVar.1096 commonName - -(CAL); deletion of 32 kb involving both the alpha and zeta genes alpha-Thal-1 HbVar.1096 ethnic Italian HbVar.1096 ethnic Spanish HbVar.1096 phenoCommon alpha-1 thalassemia HbVar.1097 commonName - -(MED-II); a deletion of 26.5 kb involving the two alpha and zeta genes alpha-Thal-1 HbVar.1097 ethnic Turk HbVar.1097 ethnic Mediterranean HbVar.1097 phenoCommon alpha-1 thalassemia HbVar.1100 commonName - -(RT); a deletion of 36.5-40 kb removing the entire alpha gene locus alpha-Thal-1 HbVar.1100 ethnic British HbVar.1100 ethnic German HbVar.1100 phenoCommon alpha-1 thalassemia HbVar.1102 commonName - -(MC); a deletion of at least 46 kb involving both alpha genes and zeta gene alpha-Thal-1 HbVar.1102 ethnic British HbVar.1102 phenoCommon alpha-1 thalassemia HbVar.1103 protEffect HBB 4(NA3) Leu>Val HbVar.1103 commonName Hb Kamakura HbVar.1103 ethnic Japanese HbVar.1103 phenoCommon Hemoglobin variant HbVar.1105 protEffect HBA2 140(HC1) Lys>Glu HbVar.1105 commonName Hb Hanamaki-2 HbVar.1105 ethnic Caucasian HbVar.1105 ethnic English HbVar.1105 ethnic French HbVar.1105 ethnic Irish HbVar.1105 ethnic American Indian HbVar.1105 phenoCommon Hemoglobin variant HbVar.1106 protEffect HBA1 123(H5) His>Tyr HbVar.1106 commonName Hb Yanase HbVar.1106 ethnic Japanese HbVar.1106 phenoCommon Hemoglobin variant HbVar.1107 protEffect HBD 9(A5) Lys>Glu HbVar.1107 commonName Hb A2-Toranomon HbVar.1107 ethnic Japanese HbVar.1107 phenoCommon Hemoglobin variant HbVar.1108 protEffect HBB 89(F4) Leu>Val HbVar.1108 commonName Hb Oofuna HbVar.1108 ethnic Japanese HbVar.1108 phenoCommon Hemoglobin variant HbVar.1109 protEffect HBA1 or HBA2 90(FG1) His>Arg HbVar.1109 commonName Hb Tamano HbVar.1109 ethnic Japanese HbVar.1109 phenoCommon Hemoglobin variant HbVar.1110 protEffect HBB 70(E13) Gly->0 AND Gly-Leu-Gly- inserted between 69(E12) and 71(E14) of HBB HbVar.1110 commonName Hb Nishinomiya HbVar.1110 phenoCommon Hemoglobin variant HbVar.1111 protEffect HBA2 2(NA1) Val>Ala HbVar.1111 commonName Hb Lyon-Bron HbVar.1111 ethnic French HbVar.1111 phenoCommon Hemoglobin variant HbVar.1112 protEffect HBA1 4(A1) Ser>Phe HbVar.1112 commonName Hb Douala HbVar.1112 ethnic Cameroonian HbVar.1112 phenoCommon Hemoglobin variant HbVar.1113 protEffect HBB 137(H14) Gly>Arg HbVar.1113 commonName Hb 'tlangeland HbVar.1113 ethnic Chinese HbVar.1113 phenoCommon Hemoglobin variant HbVar.1114 protEffect HBA2 56(E4) Val>Ala HbVar.1114 commonName Hb Gerland HbVar.1114 ethnic French HbVar.1114 phenoCommon Hemoglobin variant HbVar.1115 protEffect HBG2 76(E19) Ile>Val HbVar.1115 commonName Hb F-Coigneres HbVar.1115 phenoCommon Hemoglobin variant HbVar.1116 protEffect HBA2 10(A7) Asn>Ser HbVar.1116 commonName Hb Zurich-Hottingen HbVar.1116 ethnic Spanish HbVar.1116 phenoCommon Hemoglobin variant HbVar.1117 protEffect HBA1 41(C5) Lys>Asn HbVar.1117 commonName Hb Saratoga Springs HbVar.1117 ethnic Swedish HbVar.1117 phenoCommon Hemoglobin variant HbVar.1118 protEffect HBB 117(G18) His>Tyr HbVar.1118 commonName Hb Rhode Island HbVar.1118 alias Hb Southwark HbVar.1118 phenoCommon Hemoglobin variant HbVar.1119 protEffect HBB 42(C7) Phe>Cys HbVar.1119 commonName Hb Ilmenau HbVar.1119 ethnic German HbVar.1119 phenoCommon Hemoglobin variant HbVar.1120 protEffect HBA1 103(G9) Ser>Arg HbVar.1120 commonName Hb Manitoba II HbVar.1120 ethnic English HbVar.1120 ethnic German HbVar.1120 ethnic Irish HbVar.1120 ethnic Italian HbVar.1120 phenoCommon Hemoglobin variant HbVar.1121 protEffect HBA2 103(G9) Ser>Arg HbVar.1121 commonName Hb Manitoba III HbVar.1121 ethnic Taiwanese HbVar.1121 phenoCommon Hemoglobin variant HbVar.1122 protEffect HBA1 10(A7) Asn>Lys HbVar.1122 commonName Hb Delfzicht HbVar.1122 ethnic Dutch HbVar.1122 phenoCommon Hemoglobin variant HbVar.1123 protEffect HBA1 120(H2) Pro>Ser HbVar.1123 commonName Hb Groene Hart HbVar.1123 alias Hb Bernalda HbVar.1123 ethnic Italian HbVar.1123 ethnic Moroccan HbVar.1123 phenoCommon Hemoglobin variant HbVar.1125 protEffect HBB 10(A6) Ser>Tyr AND HBB 122(GH4) Glu>Gln HbVar.1125 commonName Hb D-Agri HbVar.1125 ethnic Indian HbVar.1125 phenoCommon Hemoglobin variant HbVar.1126 protEffect HBD 147(HC3) His>Arg HbVar.1126 commonName Hb A2-Monreale HbVar.1126 ethnic Sicilian HbVar.1126 phenoCommon Hemoglobin variant HbVar.1128 protEffect HBB 12(A8) Val>Ile AND HBB 122(GH4) Glu>Lys HbVar.1128 commonName Hb O-Tibesti HbVar.1128 ethnic Sudanese HbVar.1128 ethnic Chadian HbVar.1128 phenoCommon Hemoglobin variant HbVar.1129 protEffect HBB 9(A5) Lys>Asn HbVar.1129 commonName Hb Limassol HbVar.1129 ethnic Greek Cypriot HbVar.1129 phenoCommon Hemoglobin variant HbVar.1135 commonName Hb Antalya HbVar.1135 ethnic Turkish HbVar.1135 phenoCommon Thalassemia HbVar.1136 protEffect HBB 113(G14) Cys>Phe HbVar.1136 commonName Hb Canterbury HbVar.1136 ethnic New Zealand HbVar.1136 phenoCommon Hemoglobin variant HbVar.1137 protEffect HBB 127(H4) Val>Leu HbVar.1137 commonName Hb Molfetta HbVar.1137 ethnic Italian HbVar.1137 phenoCommon Hemoglobin variant HbVar.1138 commonName Hb Zurich-Altstetten HbVar.1138 ethnic Thai HbVar.1138 phenoCommon Hemoglobin variant HbVar.1139 protEffect HBA1 or HBA2 45(CE2) Pro>Ala HbVar.1139 commonName Hb Milne HbVar.1139 phenoCommon Hemoglobin variant HbVar.1141 protEffect HBB 147(HC3) His>Gln HbVar.1141 commonName Hb Kodaira II HbVar.1141 ethnic Chinese HbVar.1141 ethnic Thai HbVar.1141 phenoCommon Hemoglobin variant HbVar.1142 protEffect HBA1 133(+T); modified C-terminal sequence: (133)Cys-Glu-His-Arg-Ala-Asp-Leu-Gln- Ile-Pro-Leu-Ser-Trp-Ser-Leu-Gly-Gly-His- Ala-Ser-Cys-Pro-Leu-Gly-Leu-Pro-Pro-Ala- Pro-Pro-Pro-Leu-Pro-Ala-Pro-Val-Pro-Pro- Trp-Ser-Leu-Asn-Lys-(176)Val-COOH HbVar.1142 commonName Hb Pak Num Po HbVar.1142 ethnic Thai HbVar.1142 phenoCommon Thalassemia HbVar.1143 protEffect HBB 65(E8) Gly>Ala HbVar.1143 commonName Hb Aubagne HbVar.1143 ethnic French Caucasian HbVar.1143 phenoCommon Hemoglobin variant HbVar.1144 protEffect HBB 114(G15) Val>Leu HbVar.1144 commonName Hb Champagne HbVar.1144 ethnic French HbVar.1144 phenoCommon Hemoglobin variant HbVar.1145 protEffect HBB 62(E5) Lys>Gln HbVar.1145 commonName Hb Pocos de Caldas HbVar.1145 ethnic Brazilian HbVar.1145 phenoCommon Hemoglobin variant HbVar.1146 protEffect HBG1 122(GH4) Glu>Gln HbVar.1146 commonName Hb F-Campinas HbVar.1146 ethnic Brazilian HbVar.1146 phenoCommon Hemoglobin variant HbVar.1147 protEffect HBB 103(G4) Asn>His HbVar.1147 commonName Hb Canebiere HbVar.1147 phenoCommon Hemoglobin variant HbVar.1148 protEffect HBB 117(G18) His>Leu HbVar.1148 commonName Hb Vexin HbVar.1148 ethnic French Caucasian HbVar.1148 phenoCommon Hemoglobin variant HbVar.1149 protEffect HBB 35(B16) Val>Leu HbVar.1149 commonName Hb Nantes HbVar.1149 ethnic French Caucasian HbVar.1149 phenoCommon Hemoglobin variant HbVar.1150 protEffect HBB 77(E20) Ala>Val HbVar.1150 commonName Hb Harlequin HbVar.1150 ethnic English HbVar.1150 phenoCommon Hemoglobin variant HbVar.1151 protEffect HBB 117(G18) His>Pro HbVar.1151 commonName Hb Miami HbVar.1151 ethnic Brazilian HbVar.1151 phenoCommon Hemoglobin variant HbVar.1152 protEffect HBG2 39(C4) Thr>Pro HbVar.1152 commonName Hb F-Bonheiden HbVar.1152 ethnic Caucasian HbVar.1152 phenoCommon Hemoglobin variant HbVar.1153 protEffect HBB 32(B13) Leu>Val HbVar.1153 commonName Hb Badalona HbVar.1153 ethnic Spanish HbVar.1153 phenoCommon Hemoglobin variant HbVar.1154 protEffect HBB 34(B15) Val>Met HbVar.1154 commonName Hb Rio Claro HbVar.1154 ethnic Brazilian HbVar.1154 phenoCommon Hemoglobin variant HbVar.1155 protEffect HBA2 38(C2) Pro>Leu HbVar.1155 commonName Hb Manawatu HbVar.1155 ethnic British HbVar.1155 phenoCommon Hemoglobin variant HbVar.1156 protEffect HBB 50(CD8) Ser>Cys HbVar.1156 commonName Hb Colima HbVar.1156 ethnic Mexican HbVar.1156 phenoCommon Hemoglobin variant HbVar.1157 protEffect HBB 58(E1) Asn>His HbVar.1157 commonName Hb Sidcup HbVar.1157 phenoCommon Hemoglobin variant HbVar.1158 protEffect HBB 44(CD2) Glu>Lys HbVar.1158 commonName Hb Hornchurch HbVar.1158 ethnic Caucasian HbVar.1158 phenoCommon Hemoglobin variant HbVar.1159 protEffect HBA2 34(B14) Phe>Ser HbVar.1159 commonName Hb Chartres HbVar.1159 ethnic French Caucasian HbVar.1159 phenoCommon Hemoglobin variant HbVar.1160 protEffect HBB 35(B16) Val>Asp HbVar.1160 commonName Hb Santander HbVar.1160 ethnic Spanish HbVar.1160 phenoCommon Hemoglobin variant HbVar.1163 commonName -114(C->A)Ggamma; the Algerian nd-HPFH HbVar.1163 ethnic Algerian HbVar.1163 phenoCommon HPFH thalassemia HbVar.1163 hap .----++. HbVar.1164 protEffect HBB 145 (-A); modified C-terminal sequence: (145)Ser-Ile-Thr-Lys-Leu-Ala-Phe-Leu-Leu-Ser- Asn-Phe-(157)Tyr-COOH HbVar.1164 commonName Hb Trento HbVar.1164 ethnic Italian HbVar.1164 phenoCommon Hemoglobin variant HbVar.1165 protEffect HBB 94(F9) Cys>Tyr HbVar.1165 commonName Hb Fort Dodge HbVar.1165 ethnic Caucasian HbVar.1165 phenoCommon Hemoglobin variant HbVar.1166 protEffect HBA1 45(CE2) Pro>Ala HbVar.1166 commonName Hb Hagerstown HbVar.1166 alias Hb Milne HbVar.1166 ethnic Italian HbVar.1166 phenoCommon Hemoglobin variant HbVar.1167 protEffect HBD 58(E1) Asn>Lys HbVar.1167 commonName Hb A2-Campania HbVar.1167 ethnic Italian HbVar.1167 phenoCommon Hemoglobin variant HbVar.1168 protEffect HBD 89(F4) Leu>Val HbVar.1168 commonName Hb A2-Lucania HbVar.1168 ethnic Italian HbVar.1168 phenoCommon Hemoglobin variant HbVar.1169 protEffect HBD 105(G6) Arg>Ser HbVar.1169 commonName Hb A2-Capri HbVar.1169 ethnic Italian HbVar.1169 phenoCommon Hemoglobin variant HbVar.1170 protEffect HBB 87(F2) Ala>Pro HbVar.1170 commonName Hb Cardarelli HbVar.1170 ethnic Italian HbVar.1170 phenoCommon Hemoglobin variant HbVar.1171 protEffect HBB 6(A2) Pro>Ala HbVar.1171 commonName Hb Gorwihl HbVar.1171 alias Hb Hinchingbrooke HbVar.1171 ethnic German HbVar.1171 phenoCommon Hemoglobin variant HbVar.1172 protEffect HBA2 125(H7) Ser>Pro HbVar.1172 commonName Hb Policoro HbVar.1172 ethnic Italian HbVar.1172 phenoCommon Hemoglobin variant HbVar.1173 protEffect HBB 7(A3) Glu>Val AND HBB 69(E12) Leu>Phe HbVar.1173 commonName Hb Jamaica Plain HbVar.1173 ethnic Puerto Rican HbVar.1173 phenoCommon Hemoglobin variant HbVar.1174 protEffect HBA2 140(HC1) Lys>Asn HbVar.1174 commonName Hb Fukui HbVar.1174 ethnic Japanese HbVar.1174 phenoCommon Hemoglobin variant HbVar.1175 protEffect HBA2 Initiation codon Met>Val HbVar.1175 commonName alpha2 ATG->GTG HbVar.1175 ethnic Italian HbVar.1175 phenoCommon alpha-2 thalassemia HbVar.1176 protEffect HBA1 24(B4) Glu>Stop HbVar.1176 commonName alpha1 cd23 GAG->TAG HbVar.1176 ethnic Italian HbVar.1176 phenoCommon alpha-1 thalassemia HbVar.1177 commonName alpha2 +832 G->A HbVar.1177 ethnic Italian HbVar.1177 ethnic European HbVar.1177 phenoCommon alpha-2 thalassemia HbVar.1178 commonName alpha1 +22 T->C HbVar.1178 ethnic Italian HbVar.1178 phenoCommon alpha-1 thalassemia HbVar.1179 commonName -76 (A->T) delta0 HbVar.1179 ethnic Italian HbVar.1179 phenoCommon delta0 thalassemia HbVar.1180 commonName delta IVSII-6 T->A HbVar.1180 ethnic Italian HbVar.1180 phenoCommon delta+ thalassemia HbVar.1181 protEffect HBB 78(EF1) His>Leu HbVar.1181 commonName Hb St. Joseph's HbVar.1181 ethnic Canadian HbVar.1181 phenoCommon Hemoglobin variant HbVar.1182 protEffect HBA1 91(FG2) Lys>Arg HbVar.1182 commonName Hb Clinico Madrid II HbVar.1182 ethnic Spanish HbVar.1182 phenoCommon Hemoglobin variant HbVar.1183 protEffect HBA2 97(G3) Val>Asp HbVar.1183 commonName Hb El Escorial HbVar.1183 ethnic Nigerian HbVar.1183 phenoCommon Hemoglobin variant HbVar.1184 protEffect Ala-Leu-Thr-Asn- inserted between codons 69(E17) and 70(E18) of HBA1 HbVar.1184 commonName Hb Esch HbVar.1184 ethnic Portuguese HbVar.1184 phenoCommon Hemoglobin variant HbVar.1185 protEffect HBB 60(E3) Lys>Asn HbVar.1185 commonName Hb J-Lome HbVar.1185 ethnic African HbVar.1185 ethnic Japanese HbVar.1185 ethnic Vietnamese HbVar.1185 phenoCommon Hemoglobin variant HbVar.1186 commonName -31 (A->G) delta+ HbVar.1186 ethnic Italian HbVar.1186 phenoCommon delta+ thalassemia HbVar.1187 protEffect HBA2 66(E14) Ala>Thr HbVar.1187 commonName Hb Part-Dieu HbVar.1187 ethnic French Caucasian HbVar.1187 phenoCommon Hemoglobin variant HbVar.1188 protEffect HBA2 70(E18) Ala>Thr HbVar.1188 commonName Hb Decines-Charpieu HbVar.1188 ethnic French Caucasian HbVar.1188 phenoCommon Hemoglobin variant HbVar.1189 protEffect HBA1 132(H14) Ser>Phe HbVar.1189 commonName Hb Lusaka HbVar.1189 ethnic Zambian HbVar.1189 phenoCommon Hemoglobin variant HbVar.1190 protEffect HBA2 43(C7) Tyr>His HbVar.1190 commonName Hb Barika HbVar.1190 ethnic Algerian HbVar.1190 phenoCommon Hemoglobin variant HbVar.1191 protEffect HBB 67(E10) Lys>Asn HbVar.1191 commonName Hb Ulm HbVar.1191 ethnic German HbVar.1191 phenoCommon Hemoglobin variant HbVar.1192 commonName Poly A (A->C); AATAAA->AATAAC HbVar.1192 ethnic Surinam HbVar.1192 phenoCommon alpha-2 thalassemia HbVar.1194 commonName -30 (T->C); delta+ HbVar.1194 ethnic Greek HbVar.1194 phenoCommon delta+ thalassemia HbVar.1196 commonName IVS II-894 (C->T); delta+ HbVar.1196 ethnic Greek HbVar.1196 phenoCommon delta+ thalassemia HbVar.1197 commonName IVS-I 3' AG->AC; delta0 HbVar.1197 ethnic Greek HbVar.1197 phenoCommon delta0 thalassemia HbVar.1199 protEffect HBA2 60(E8) Gly>Arg HbVar.1199 commonName Hb Zurich-Albisrieden HbVar.1199 ethnic Swiss HbVar.1199 phenoCommon Hemoglobin variant HbVar.1200 protEffect HBB 117(+TGAT); modified C-terminal sequence: (117)Leu-Ile-Ser-Leu-Trp-Gln-Arg-Ile-His-Pro-Thr-
Ser-Ala-Gly-Cys-Leu-Ser-Glu-Ser-Gly-Gly-
Trp-Cys-Gly-(140)COOH HbVar.1200 commonName Codon 116 (+TGAT) HbVar.1200 phenoCommon beta0 thalassemia HbVar.1201 protEffect HBB 104(G5) Phe>Val HbVar.1201 commonName Hb Sparta HbVar.1201 ethnic Caucasian HbVar.1201 phenoCommon Hemoglobin variant HbVar.1202 protEffect HBB 30(B11) Gly>Ser HbVar.1202 commonName Hb Tizi-Ouzou HbVar.1202 ethnic Algerian HbVar.1202 phenoCommon Hemoglobin variant HbVar.1203 protEffect HBB 27(B8) Glu>Ala HbVar.1203 commonName Hb Tripoli HbVar.1203 ethnic Libyan HbVar.1203 phenoCommon Hemoglobin variant HbVar.1204 protEffect HBB 117(G18) His->0 AND Arg-Val-Leu-Ala-His- inserted between 116(G17) and 118(G19) of HBB HbVar.1204 commonName Hb Antibes-Juan-Les-Pins HbVar.1204 ethnic French Caucasian HbVar.1204 phenoCommon Hemoglobin variant HbVar.1205 protEffect HBA1 94(FG5) Val>Ala HbVar.1205 commonName Hb Die HbVar.1205 ethnic French HbVar.1205 phenoCommon Hemoglobin variant HbVar.1207 protEffect HBA1 100(G6) Lys>Asn HbVar.1207 commonName Hb Beziers HbVar.1207 alias Hb Harlow HbVar.1207 ethnic French Caucasian HbVar.1207 phenoCommon Hemoglobin variant HbVar.1208 protEffect HBG1 137(H14) Ala>Gly HbVar.1208 commonName Hb F-Charlotte HbVar.1208 ethnic African-American HbVar.1208 phenoCommon Hemoglobin variant HbVar.1209 protEffect HBB 7(A3) Glu>Val AND HBB 91(F6) Glu>Lys HbVar.1209 commonName Hb S-Cameroon HbVar.1209 ethnic Cameroonian HbVar.1209 phenoCommon Hemoglobin variant HbVar.1210 protEffect HBB 10(A6) Ser>Tyr HbVar.1210 commonName Hb Brem-sur-Mer HbVar.1210 ethnic French Caucasian HbVar.1210 phenoCommon Hemoglobin variant HbVar.1211 protEffect HBA2 82(F2) Ser>Pro HbVar.1211 commonName Hb Passy HbVar.1211 ethnic Turkish HbVar.1211 phenoCommon Hemoglobin variant HbVar.1212 protEffect HBD 134(H11) Val>Ala HbVar.1212 commonName Hb A2-Ninive HbVar.1212 ethnic Iraqi HbVar.1212 phenoCommon Hemoglobin variant HbVar.1213 protEffect HBB 142 (-C); modified C-terminal sequence: (142)Trp-Pro-Thr-Ser-Ile-Thr-Lys-Leu-Ala-Phe- Leu-Leu-Ser-Asn-Phe-(157)Tyr-COOH HbVar.1213 commonName Hb Florida HbVar.1213 ethnic Argentine HbVar.1213 phenoCommon Thalassemia HbVar.1214 protEffect HBB 7(A3) Glu>Val AND HBB 133(H10) Lys>Asn HbVar.1214 commonName Hb S-South End HbVar.1214 phenoCommon Hemoglobin variant HbVar.1215 protEffect HBA1 31(B11) Glu>Val HbVar.1215 commonName Hb Itapira HbVar.1215 ethnic Brazilian HbVar.1215 phenoCommon Hemoglobin variant HbVar.1216 protEffect HBA1 31(B11) Glu>Ala HbVar.1216 commonName Hb Bom Jesus da Lapa HbVar.1216 ethnic Brazilian HbVar.1216 phenoCommon Hemoglobin variant HbVar.1217 protEffect HBA2 17(A14) Lys>Thr HbVar.1217 commonName Hb Boa Esperanca HbVar.1217 ethnic Brazilian HbVar.1217 phenoCommon Hemoglobin variant HbVar.1218 protEffect HBG1 137(H14) Ala>Ser HbVar.1218 commonName Hb F-Porto Torres HbVar.1218 ethnic Sardinian HbVar.1218 phenoCommon Hemoglobin variant HbVar.1219 protEffect HBB 71(E14) Ala>Gly HbVar.1219 commonName Hb Hershey HbVar.1219 ethnic Sicilian HbVar.1219 phenoCommon Hemoglobin variant HbVar.1220 protEffect HBB 71(E14) Ala>Pro HbVar.1220 commonName Hb Abington HbVar.1220 phenoCommon Hemoglobin variant HbVar.1221 protEffect HBB 119 (-T); modified C-terminal sequence: (119)Leu-Ala-Lys-Asn-Ser-Pro-His-Gln-Cys-Arg- Leu-Pro-Ile-Arg-Lys-Trp-Trp-Leu-Val-Trp- Leu-Met-Pro-Trp-Pro-Thr-Ser-Ile-Thr-Lys- Leu-Ala-Phe-Leu-Leu-Ser-Asn-Phe-(157)Tyr-COOH HbVar.1221 commonName Hb Sainte Seve HbVar.1221 ethnic French Caucasian HbVar.1221 phenoCommon Thalassemia HbVar.1222 protEffect HBB 58(E1) Asn>Thr HbVar.1222 commonName Hb Viseu HbVar.1222 ethnic Portuguese HbVar.1222 phenoCommon Hemoglobin variant HbVar.1223 protEffect HBA2 77(EF5) Met>Ile HbVar.1223 commonName Hb Hellux HbVar.1223 ethnic Greek HbVar.1223 phenoCommon Hemoglobin variant HbVar.1224 protEffect HBA1 105(G11) Cys>Ser HbVar.1224 commonName Hb Oegstgeest HbVar.1224 ethnic Surinam HbVar.1224 phenoCommon Hemoglobin variant HbVar.1225 protEffect HBB 95(FG1) Asp>Tyr HbVar.1225 commonName Hb Geldrop St Anna HbVar.1225 ethnic Dutch HbVar.1225 phenoCommon Hemoglobin variant HbVar.1226 protEffect HBA2 126(H8) Leu>Arg HbVar.1226 commonName Hb Plasencia HbVar.1226 ethnic Spanish HbVar.1226 phenoCommon Hemoglobin variant HbVar.1227 protEffect HBB 48(CD6) Asp>His HbVar.1227 commonName Hb Maryland HbVar.1227 phenoCommon Hemoglobin variant HbVar.1228 protEffect HBB 38(C3) Trp>Cys HbVar.1228 commonName Hb Kent HbVar.1228 phenoCommon Hemoglobin variant HbVar.1229 protEffect HBB 137(H14) Gly>Cys HbVar.1229 commonName Hb Visayan HbVar.1229 ethnic Filipino HbVar.1229 phenoCommon Hemoglobin variant HbVar.1230 protEffect HBB 139(H16) Ala>Val HbVar.1230 commonName Hb Cutlerville HbVar.1230 ethnic Caucasian HbVar.1230 phenoCommon Hemoglobin variant HbVar.1231 protEffect HBB 142(H19) Leu>Val AND HBB 145(HC1) Lys-Tyr-His->0 HbVar.1231 commonName Hb Kochi HbVar.1231 ethnic Japanese HbVar.1231 phenoCommon Hemoglobin variant HbVar.1232 protEffect HBB 24(B5) Val>Ala HbVar.1232 commonName Hb Zoeterwoude HbVar.1232 ethnic Dutch HbVar.1232 phenoCommon Hemoglobin variant HbVar.1233 protEffect HBA1 52(CE9) Gly>Ser HbVar.1233 commonName Hb Riccarton HbVar.1233 ethnic Caucasian HbVar.1233 phenoCommon Hemoglobin variant HbVar.1234 protEffect HBB 144(H21) His>Leu HbVar.1234 commonName Hb Vancleave HbVar.1234 phenoCommon Hemoglobin variant HbVar.1235 protEffect HBA2 33(B13) Met>Ile HbVar.1235 commonName Hb Amsterdam HbVar.1235 ethnic Surinam HbVar.1235 phenoCommon Thalassemia HbVar.1236 protEffect HBB 83(EF6) Lys>Arg HbVar.1236 commonName Hb Taradale HbVar.1236 alias Hb Middlesbrough HbVar.1236 alias Hb Keystone HbVar.1236 phenoCommon Hemoglobin variant HbVar.1237 protEffect HBB 138(H15) - 140(H17) Val-Ala-Asn->0 AND inserted Asp HbVar.1237 commonName Hb Stara Zagora HbVar.1237 ethnic Bulgarian HbVar.1237 phenoCommon Thalassemia HbVar.1238 protEffect HBD 60(E3) Lys>Asn HbVar.1238 commonName Hb A2-Pasteur-Tunis HbVar.1238 ethnic Tunisian HbVar.1238 phenoCommon Hemoglobin variant HbVar.1239 protEffect HBA1 or HBA2 10(A7) Asn>Thr HbVar.1239 commonName Hb Broomfield HbVar.1239 phenoCommon Hemoglobin variant HbVar.1240 protEffect HBA1 or HBA2 14(A11) Ala>Pro HbVar.1240 commonName Hb Ravenscourt Park HbVar.1240 ethnic Jamaican HbVar.1240 ethnic Cuban HbVar.1240 phenoCommon Hemoglobin variant HbVar.1241 protEffect HBA1 or HBA2 28(B8) Glu>Ala HbVar.1241 commonName Hb Hackney HbVar.1241 alias Hb Xu Chang HbVar.1241 phenoCommon Hemoglobin variant HbVar.1242 protEffect HBA1 or HBA2 39(C3) Thr>Ile HbVar.1242 commonName Hb Chelsea HbVar.1242 phenoCommon Hemoglobin variant HbVar.1243 protEffect HBA1 or HBA2 51(CE8) His>Leu HbVar.1243 commonName Hb Dublin HbVar.1243 ethnic Dominican HbVar.1243 ethnic European HbVar.1243 phenoCommon Hemoglobin variant HbVar.1244 protEffect HBA1 or HBA2 77(EF5) Met>Arg HbVar.1244 commonName Hb Walpole HbVar.1244 phenoCommon Hemoglobin variant HbVar.1246 protEffect HBB 7(A3) Glu>Lys AND HBB 84(EF7) Gly>Asp HbVar.1246 commonName Hb C-New Cross HbVar.1246 ethnic Nigerian HbVar.1246 phenoCommon Hemoglobin variant HbVar.1247 protEffect HBB 102(G3) Glu>Ala HbVar.1247 commonName Hb Youngstown HbVar.1247 alias Hb St Mary's HbVar.1247 phenoCommon Hemoglobin variant HbVar.1248 protEffect HBD 14(A10) Ala>Asp HbVar.1248 commonName Hb A2-MUMC HbVar.1248 alias Hb A2-Corleone HbVar.1248 ethnic Sicilian HbVar.1248 phenoCommon Hemoglobin variant HbVar.1249 protEffect HBB 75(E18) Gly>Ser HbVar.1249 commonName Hb Kokomo HbVar.1249 phenoCommon Hemoglobin variant HbVar.1250 protEffect HBA2 76(EF4) Asp>Val HbVar.1250 commonName Hb Al-Hammadi Riyadh HbVar.1250 ethnic Saudi Arabian HbVar.1250 phenoCommon Hemoglobin variant HbVar.1251 protEffect HBB 139(H16) Ala>Thr HbVar.1251 commonName Hb Buzen HbVar.1251 ethnic Japanese HbVar.1251 phenoCommon Hemoglobin variant HbVar.1254 commonName Ti~ HbVar.1254 phenoCommon Thalassemia HbVar.1255 protEffect HBA2 41(C5) Lys>Gln HbVar.1255 commonName Hb Linwood HbVar.1255 phenoCommon Hemoglobin variant HbVar.1256 protEffect HBB 71(E14) Ala>Val HbVar.1256 commonName Hb Marineo HbVar.1256 ethnic Sicilian HbVar.1256 phenoCommon Hemoglobin variant HbVar.1257 protEffect HBB 9(A5) Lys>Arg HbVar.1257 commonName Hb Lucknow HbVar.1257 ethnic Indian HbVar.1257 phenoCommon Hemoglobin variant HbVar.2501 protEffect HBA2 25(B5) Tyr>Asp HbVar.2501 commonName Hb Creve Coeur HbVar.2501 ethnic North European HbVar.2501 phenoCommon Hemoglobin variant HbVar.2502 protEffect HBA1 69(E17) Asn>His HbVar.2502 commonName Hb Jeddah HbVar.2502 ethnic Saudi Arabian HbVar.2502 ethnic Yemenite HbVar.2502 phenoCommon Hemoglobin variant HbVar.2503 protEffect HBA1 131(H13) Ala>Val HbVar.2503 commonName Hb Westborough HbVar.2503 ethnic Indian HbVar.2503 phenoCommon Hemoglobin variant HbVar.2504 protEffect HBA1 83(F3) - 85(F5) Ala-Leu-Ser->0 HbVar.2504 commonName Codons 82/83/84 del 5bp insertion HbVar.2504 ethnic Portuguese HbVar.2504 phenoCommon alpha-1 thalassemia HbVar.2508 commonName IVS II-761 A>G HbVar.2508 phenoCommon beta (0 or + unclear) thalassemia HbVar.2509 commonName 5'UTR; +20 (C>T) beta+ HbVar.2509 phenoCommon beta+ thalassemia HbVar.2510 protEffect HBB 132 - 133 (-GA); modified C-terminal sequence: (132)Gln-Ser-Gly-Gly-Trp-Cys-(138)Gly-COOH HbVar.2510 commonName Codons 131/132 (-GA) HbVar.2510 phenoCommon beta0 thalassemia HbVar.2511 protEffect HBB 92 (-T); modified C-terminal sequence HbVar.2511 commonName Hb MorganTown HbVar.2511 alias beta91 CTG>CG HbVar.2511 ethnic Irish HbVar.2511 phenoCommon beta (0 or + unclear) thalassemia HbVar.2512 commonName Cretan HPFH HbVar.2512 alias Agamma -158 C>T HbVar.2512 ethnic Greek HbVar.2512 phenoCommon HPFH thalassemia HbVar.2513 commonName Venezuelan nd-HPFH HbVar.2513 alias Agamma -211 C>T HbVar.2513 ethnic Black HbVar.2513 phenoCommon HPFH thalassemia HbVar.2514 protEffect HBA2 23(B3) Gly>Gly HbVar.2514 commonName Codon 22 C>T HbVar.2514 ethnic Surinam HbVar.2514 phenoCommon alpha-2 thalassemia HbVar.2515 protEffect HBA1 15(A12) Trp>Stop HbVar.2515 commonName Codon 14 G>A HbVar.2515 ethnic Iranian HbVar.2515 phenoCommon alpha-1 thalassemia HbVar.2516 protEffect HBA2 19 (-G); modified C-terminal sequence: (19)Ala-Arg-Thr-Leu-Ala-Ser-Met-Val-Arg-Arg-
Pro-Trp-Arg-Gly-Cys-Ser-Cys-Pro-Ser-Pro-
Pro-Pro-Arg-Pro-Thr-Ser-Arg-Thr-Ser-Thr-(48)COOH HbVar.2516 commonName Codon 19 (-G) HbVar.2516 ethnic Iranian HbVar.2516 phenoCommon alpha-2 thalassemia HbVar.2517 commonName -93 C>G HbVar.2517 ethnic Surinam HbVar.2517 phenoCommon beta+ thalassemia HbVar.2518 protEffect HBB 5(A1) Thr>Asn HbVar.2518 commonName Hb Wurzburg HbVar.2518 ethnic German HbVar.2518 phenoCommon Hemoglobin variant HbVar.2519 protEffect HBA2 104(G10) His>Leu HbVar.2519 commonName Hb Bronovo HbVar.2519 ethnic Turkish HbVar.2519 phenoCommon Hemoglobin variant HbVar.2520 protEffect HBB 7(A3) Glu>Val AND HBB 38(C3) Trp>Gly HbVar.2520 commonName Hb C-Ndjamena HbVar.2520 ethnic Chadian HbVar.2520 phenoCommon Hemoglobin variant HbVar.2522 commonName IVS II-2 (T>A) HbVar.2522 phenoCommon alpha-2 thalassemia HbVar.2526 protEffect HBG2 21(B2) Val>Ala HbVar.2526 commonName Hb F-Bron HbVar.2526 phenoCommon Hemoglobin variant HbVar.2527 commonName IVS-I-129 (A>G) HbVar.2527 ethnic German HbVar.2527 phenoCommon beta0 thalassemia HbVar.2528 protEffect HBB 60(E3) Lys>Stop HbVar.2528 commonName Cd59 (AAG>TAG) HbVar.2528 phenoCommon beta0 thalassemia HbVar.2529 protEffect HBB 38(C3) Trp>Stop HbVar.2529 commonName Cd37 (TGG>TAG) HbVar.2529 ethnic Afghan HbVar.2529 phenoCommon beta0 thalassemia HbVar.2529 phenoCommon moderate Splenomegaly HbVar.2530 protEffect HBB Initiation codon Met>Lys HbVar.2530 commonName Initiation codon T>A HbVar.2530 ethnic French Caucasian HbVar.2530 phenoCommon beta (0 or + unclear) thalassemia HbVar.2531 protEffect HBA2 24(B4) Glu>Stop HbVar.2531 commonName Cd23 (GAG>TAG) HbVar.2531 ethnic Tunisian HbVar.2531 phenoCommon alpha-2 thalassemia HbVar.2532 protEffect HBA2 91(FG2) Lys>Stop HbVar.2532 commonName Cd90 (AAG>TAG) HbVar.2532 ethnic Macedonian HbVar.2532 phenoCommon alpha (1 or 2 unclear) thalassemia HbVar.2533 protEffect HBB 78 (-C); modified C-terminal sequence HbVar.2533 commonName Cd77/78 (-C) HbVar.2533 ethnic Mexican HbVar.2533 phenoCommon beta (0 or + unclear) thalassemia HbVar.2534 commonName IVS-II-2 (T>A) HbVar.2534 ethnic Turkish HbVar.2534 phenoCommon beta (0 or + unclear) thalassemia HbVar.2535 commonName -25 (G>C) HbVar.2535 ethnic African-American HbVar.2535 phenoCommon beta (0 or + unclear) thalassemia HbVar.2536 commonName -32 (C>T) HbVar.2536 ethnic Hispanic HbVar.2536 phenoCommon beta (0 or + unclear) thalassemia HbVar.2537 commonName -27 (-AA) HbVar.2537 phenoCommon beta (0 or + unclear) thalassemia HbVar.2538 protEffect HBB 77 (-GC); modified C-terminal sequence HbVar.2538 commonName Cd76 (-GC) HbVar.2538 ethnic North African HbVar.2538 phenoCommon beta0 thalassemia HbVar.2539 protEffect HBA2 109(G15) Thr>Asn HbVar.2539 commonName Hb Bleuland HbVar.2539 ethnic Surinam HbVar.2539 phenoCommon Hemoglobin variant HbVar.2540 protEffect HBB 39(C4) Thr>Ile HbVar.2540 commonName Hb La Coruna HbVar.2540 ethnic Spanish HbVar.2540 phenoCommon Hemoglobin variant HbVar.2541 protEffect HBA2 5(A2) Pro>His HbVar.2541 commonName Hb Bellevue HbVar.2541 phenoCommon Hemoglobin variant HbVar.2542 protEffect HBB 33(B14) Leu>Gln HbVar.2542 commonName Hb Clermont Ferrand HbVar.2542 ethnic Vietnamese HbVar.2542 phenoCommon Hemoglobin variant HbVar.2543 protEffect HBB 51(D1) Thr>Ser HbVar.2543 commonName Hb Zurich-Langstrasse HbVar.2543 ethnic Sicilian HbVar.2543 phenoCommon Hemoglobin variant HbVar.2545 commonName Hb Jambol HbVar.2545 ethnic Bulgarian HbVar.2545 phenoCommon Thalassemia HbVar.2546 protEffect HBB 119(GH1) Phe>Val HbVar.2546 commonName Hb Sodertalje HbVar.2546 ethnic Swedish HbVar.2546 phenoCommon Hemoglobin variant HbVar.2548 protEffect HBB 133(H10) Lys>Stop HbVar.2548 commonName Cd132A>T HbVar.2548 ethnic Ghanaian HbVar.2548 phenoCommon beta0 thalassemia HbVar.2550 protEffect HBD 3(NA2) His>Leu HbVar.2550 commonName Hb A2-Catania HbVar.2550 ethnic Sicilian HbVar.2550 phenoCommon Hemoglobin variant HbVar.2554 protEffect HBD 71(E14) Ala>Gly HbVar.2554 commonName Hb A2-Ventimiglia HbVar.2554 ethnic Sicilian HbVar.2554 phenoCommon Hemoglobin variant HbVar.2555 protEffect HBD 88(F3) Gln>Lys HbVar.2555 commonName Hb A2-Montechiaro HbVar.2555 ethnic Sicilian HbVar.2555 phenoCommon Hemoglobin variant HbVar.2556 protEffect HBD 141(H18) Ala>Val HbVar.2556 commonName Hb A2-Bagheria HbVar.2556 ethnic Sicilian HbVar.2556 phenoCommon Hemoglobin variant HbVar.2557 protEffect HBB 81(EF4) Asn>Tyr HbVar.2557 commonName Hb Hounslow HbVar.2557 ethnic Afghan HbVar.2557 phenoCommon Hemoglobin variant HbVar.2558 protEffect HBB 85(+GCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGG); modified C-terminal sequence: (85)Ala-His-Gly-Lys-Lys-Val-Leu-Gly-Ala-Phe-Ser-Asp-Gly-Leu-Ala-His-Leu-Asp-Asn-Leu-Lys-Gly-Pro-Leu-Pro-His-(110)COOH HbVar.2558 commonName Codon 84 (65bp duplication) HbVar.2558 ethnic African HbVar.2558 phenoCommon beta0 thalassemia HbVar.2563 protEffect HBA2 95(G1) Asp>Val HbVar.2563 commonName Hb Kirksey HbVar.2563 ethnic Caucasian HbVar.2563 phenoCommon Hemoglobin variant HbVar.2565 protEffect HBA2 135(H17) Thr>Ala HbVar.2565 commonName Hb Brunswick HbVar.2565 ethnic Caucasian HbVar.2565 phenoCommon Hemoglobin variant HbVar.2566 protEffect HBA1 136(H18) Val>Met HbVar.2566 commonName Hb Trenton HbVar.2566 phenoCommon Hemoglobin variant HbVar.2567 protEffect HBA2 139(H21) Ser>Phe HbVar.2567 commonName Hb Frauenfeld HbVar.2567 ethnic Caucasian HbVar.2567 phenoCommon Hemoglobin variant HbVar.2569 protEffect HBA2 136(H18) Val>Leu HbVar.2569 commonName Hb Tottenham HbVar.2569 ethnic British HbVar.2569 phenoCommon Hemoglobin variant HbVar.2570 protEffect HBA2 36(B16) Ser>Pro HbVar.2570 commonName Hb Evora HbVar.2570 ethnic Portuguese HbVar.2570 phenoCommon Hemoglobin variant HbVar.2571 commonName IVS II-726 (A>G) HbVar.2571 ethnic Moroccan HbVar.2571 phenoCommon beta (0 or + unclear) thalassemia HbVar.2571 phenoCommon moderate Splenomegaly HbVar.2572 commonName IVS I-7 (A>T) HbVar.2572 ethnic Italian HbVar.2572 phenoCommon beta+ thalassemia HbVar.2573 commonName IVS II-2 (T>C) HbVar.2573 ethnic Indian HbVar.2573 phenoCommon beta+ thalassemia HbVar.2574 protEffect HBB 105 (-G); modified C-terminal sequence: (105)Arg-Leu-Leu-Gly-Asn-Val-Leu-Val-Cys-Val-
Leu-Ala-His-His-Phe-Gly-Lys-Glu-Phe-Thr-
Pro-Pro-Val-Gln-Ala-Ala-Tyr-Gln-Lys-Val-
Val-Ala-Gly-Val-Ala-Asn-Ala-Leu-Ala-His-
Lys-Tyr-His-(147)COOH HbVar.2574 commonName Codon 104 (-G) HbVar.2574 ethnic German HbVar.2574 phenoCommon beta0 thalassemia HbVar.2575 protEffect HBA2 50 (-GC); modified C-terminal sequence: (50)Thr-Arg-Leu-Cys-Pro-Gly-(55)COOH HbVar.2575 commonName Codon 49 (-GC) HbVar.2575 phenoCommon alpha-2 thalassemia HbVar.2576 protEffect HBD 8(A4) Glu>Ala HbVar.2576 commonName Hb A2-Udine HbVar.2576 ethnic Italian HbVar.2576 phenoCommon Hemoglobin variant HbVar.2577 protEffect HBA2 2(NA1) Val>Met HbVar.2577 commonName Hb A2-Fontanabuona HbVar.2577 ethnic Italian HbVar.2577 phenoCommon Hemoglobin variant HbVar.2578 protEffect HBA1 7(A4) Asp>His HbVar.2578 commonName Hb Galliera I HbVar.2578 ethnic Italian HbVar.2578 phenoCommon Hemoglobin variant HbVar.2579 protEffect HBA2 7(A4) Asp>His HbVar.2579 commonName Hb Galliera II HbVar.2579 ethnic Italian HbVar.2579 phenoCommon Hemoglobin variant HbVar.2580 protEffect HBB 7(A3) Glu>Gly HbVar.2580 commonName Hb Lavagna HbVar.2580 ethnic Italian HbVar.2580 phenoCommon Hemoglobin variant HbVar.2581 protEffect HBA1 60(E8) Gly>Ser HbVar.2581 commonName Hb Parma HbVar.2581 ethnic Italian HbVar.2581 phenoCommon Hemoglobin variant HbVar.2582 protEffect HBA1 41(C5) Lys>Thr HbVar.2582 commonName Hb Pisa HbVar.2582 ethnic Italian HbVar.2582 phenoCommon Hemoglobin variant HbVar.2583 protEffect HBB 117(G18) His>Arg HbVar.2583 commonName Hb Sfax HbVar.2583 ethnic Tunisian HbVar.2583 phenoCommon Hemoglobin variant HbVar.2584 protEffect HBB 87(F2) Ala>Ile HbVar.2584 commonName Hb Nebraska HbVar.2584 ethnic Caucasian HbVar.2584 phenoCommon Hemoglobin variant HbVar.2585 protEffect HBA1 92(FG3) Leu>Phe HbVar.2585 commonName Hb Vientiane HbVar.2585 ethnic Laotian HbVar.2585 phenoCommon Hemoglobin variant HbVar.2586 protEffect HBA1 139(H21) Ser>Cys HbVar.2586 commonName Hb Ecuador HbVar.2586 phenoCommon Hemoglobin variant HbVar.2587 protEffect HBA2 15(A12) Trp>Cys HbVar.2587 commonName Hb Bladensburg HbVar.2587 ethnic Nigerian HbVar.2587 phenoCommon Hemoglobin variant HbVar.2588 protEffect HBB 4(NA3) Leu>Gln HbVar.2588 commonName Hb Santo Domingo HbVar.2588 ethnic Dominican HbVar.2588 phenoCommon Hemoglobin variant HbVar.2589 protEffect HBB 11(A7) Ala>Thr HbVar.2589 commonName Hb Belleville HbVar.2589 phenoCommon Hemoglobin variant HbVar.2590 protEffect HBB 46(CD4) Phe>Tyr HbVar.2590 commonName Hb Den Haag HbVar.2590 ethnic Scandinavian HbVar.2590 phenoCommon Hemoglobin variant HbVar.2591 protEffect HBA2 69(E17) Asn>His HbVar.2591 commonName Hb St. Truiden HbVar.2591 ethnic Belgian HbVar.2591 phenoCommon Hemoglobin variant HbVar.2592 protEffect HBA2 126(H8) Leu>Gln HbVar.2592 commonName Hb West-Einde HbVar.2592 ethnic Turkish HbVar.2592 phenoCommon Hemoglobin variant HbVar.2594 protEffect HBA1 10(A7) Asn>Ser HbVar.2594 commonName Hb Anadour HbVar.2594 ethnic Moroccan HbVar.2594 phenoCommon Hemoglobin variant HbVar.2595 protEffect HBA2 37(C1) Phe>Leu HbVar.2595 commonName Hb Geisinger HbVar.2595 ethnic African-American HbVar.2595 phenoCommon Hemoglobin variant HbVar.2596 protEffect HBA1 71(E19) Val>Met HbVar.2596 commonName Hb Haaksbergen HbVar.2596 ethnic Dutch HbVar.2596 phenoCommon Hemoglobin variant HbVar.2597 commonName IVS I-1 (G>T) HbVar.2597 ethnic Italian HbVar.2597 phenoCommon alpha-2 thalassemia HbVar.2598 commonName IVS I-5 (G>A) HbVar.2598 ethnic Ashkenazi Jews HbVar.2598 phenoCommon alpha-2 thalassemia HbVar.2600 commonName IVS I-55 G>A HbVar.2600 ethnic Hindu HbVar.2600 phenoCommon alpha-2 thalassemia HbVar.2601 commonName -56 (G>C) HbVar.2601 ethnic Moroccan HbVar.2601 phenoCommon Thalassemia HbVar.2602 commonName IVS II-1 (G>T) HbVar.2602 ethnic Surinam HbVar.2602 phenoCommon beta0 thalassemia HbVar.2603 protEffect HBB 107(G8) Leu>Val HbVar.2603 commonName Hb L'Aquila HbVar.2603 ethnic Italian HbVar.2603 phenoCommon Hemoglobin variant HbVar.2604 protEffect HBB 57(D7) Gly>Cys HbVar.2604 commonName Hb Leeds HbVar.2604 ethnic Pakistani HbVar.2604 phenoCommon Hemoglobin variant HbVar.2605 protEffect HBA2 2(NA1) Val>Leu HbVar.2605 commonName Hb St.Jozef HbVar.2605 ethnic Moroccan HbVar.2605 phenoCommon Hemoglobin variant HbVar.2606 protEffect HBA2 22(B2) Ala>Ser HbVar.2606 commonName Hb Zoetermeer HbVar.2606 ethnic Dutch HbVar.2606 phenoCommon Hemoglobin variant HbVar.2607 protEffect HBA1 56(E4) Val>Ala HbVar.2607 commonName Hb Gerland 1 HbVar.2607 ethnic Southeast Asian HbVar.2607 phenoCommon Hemoglobin variant HbVar.2608 protEffect HBA1 83(F3) Ala>Thr HbVar.2608 commonName Hb Hagley Park HbVar.2608 ethnic New Zealand HbVar.2608 phenoCommon Hemoglobin variant HbVar.2609 protEffect HBA1 124(H6) Ala>Pro HbVar.2609 commonName Hb Voreppe HbVar.2609 ethnic French Caucasian HbVar.2609 phenoCommon Thalassemia HbVar.2610 protEffect HBA2 8(A5) Lys>Arg HbVar.2610 commonName Hb Guanajuato HbVar.2610 ethnic Mexican HbVar.2610 phenoCommon Hemoglobin variant HbVar.2611 protEffect HBA1 30(B10) Leu>Val HbVar.2611 commonName Hb Kosovo HbVar.2611 ethnic Yugoslavian HbVar.2611 phenoCommon Hemoglobin variant HbVar.2612 protEffect HBA2 118(GH5) Phe>Ile HbVar.2612 commonName Hb Ambroise Pare HbVar.2612 ethnic French Caucasian HbVar.2612 phenoCommon Hemoglobin variant HbVar.2613 protEffect HBA1 88(F8) His>Asp HbVar.2613 commonName Hb Bonn HbVar.2613 phenoCommon Hemoglobin variant HbVar.2614 commonName IVS I-5 G>A HbVar.2614 ethnic African HbVar.2614 phenoCommon alpha-1 thalassemia HbVar.2615 protEffect HBD 5(A1) Thr>Ser HbVar.2615 commonName Hb A2-Acacias HbVar.2615 ethnic Mediterranean HbVar.2615 phenoCommon Hemoglobin variant HbVar.2616 protEffect HBB 85(EF8) Thr>Asn HbVar.2616 commonName Hb Beaujolais HbVar.2616 ethnic French Caucasian HbVar.2616 phenoCommon Hemoglobin variant HbVar.2617 protEffect HBG2 98(FG4) His>Arg HbVar.2617 commonName Hb F-Lyon HbVar.2617 ethnic French Caucasian HbVar.2617 phenoCommon Hemoglobin variant HbVar.2618 protEffect HBG2 80(EF3) Asp>His HbVar.2618 commonName Hb F-Saint-Etienne HbVar.2618 phenoCommon Hemoglobin variant HbVar.2619 protEffect HBB 118(G19) His>Asp HbVar.2619 commonName Hb North York HbVar.2619 ethnic Iranian HbVar.2619 phenoCommon Hemoglobin variant HbVar.2620 protEffect HBA2 44(CE1) Phe>Ile HbVar.2620 commonName Hb Sens HbVar.2620 ethnic French Caucasian HbVar.2620 phenoCommon Hemoglobin variant HbVar.2621 protEffect HBA2 41(C5) Lys>Asn HbVar.2621 commonName Hb Villiers le Bel HbVar.2621 ethnic French Caucasian HbVar.2621 phenoCommon Hemoglobin variant HbVar.2622 protEffect HBA1 132 (-T); modified C-terminal sequence: (132)Ser-(132)COOH HbVar.2622 commonName Hb Fez HbVar.2622 ethnic Moroccan HbVar.2622 phenoCommon Hemoglobin variant HbVar.2623 protEffect HBA1 135 (-C); modified C-terminal sequence: (135)Thr-Cys-(136)COOH HbVar.2623 commonName Hb Senlis HbVar.2623 ethnic French Caucasian HbVar.2623 phenoCommon Hemoglobin variant HbVar.2624 protEffect HBA2 78(EF6) Pro>Leu HbVar.2624 commonName Hb Asklipios HbVar.2624 ethnic Greek HbVar.2624 phenoCommon Hemoglobin variant HbVar.2625 protEffect HBD 60(E3) Lys>Met HbVar.2625 commonName Hb A2-North Africa HbVar.2625 ethnic Moroccan HbVar.2625 phenoCommon Hemoglobin variant HbVar.2626 protEffect HBA1 86(F6) Asp>His HbVar.2626 commonName Hb Canuts HbVar.2626 ethnic French Caucasian HbVar.2626 phenoCommon Hemoglobin variant HbVar.2627 protEffect HBA2 53(E1) Ser>Phe HbVar.2627 commonName Hb Essex HbVar.2627 ethnic British HbVar.2627 phenoCommon Hemoglobin variant HbVar.2628 protEffect HBB 53(D3) Asp>Tyr HbVar.2628 commonName Hb Languidic HbVar.2628 ethnic French Caucasian HbVar.2628 phenoCommon Hemoglobin variant HbVar.2629 protEffect HBG2 103(G4) Asn>Thr HbVar.2629 commonName Hb F-Sarajevo HbVar.2629 ethnic Bosnian HbVar.2629 phenoCommon Hemoglobin variant HbVar.2631 protEffect HBB 24(B5) Val>Ile HbVar.2631 commonName Hb Saveh HbVar.2631 ethnic Iranian HbVar.2631 phenoCommon Hemoglobin variant HbVar.2632 protEffect HBA1 138(H20) Thr>Pro HbVar.2632 commonName Hb Verona HbVar.2632 ethnic Italian HbVar.2632 phenoCommon Hemoglobin variant HbVar.2633 protEffect HBB 148(+TA); modified C-terminal sequence: (148)Tyr-Lys-Leu-Ala-Phe-Leu-Leu-Ser-Asn-Phe-
Tyr-(158)COOH HbVar.2633 commonName Hb Monplaisir HbVar.2633 ethnic Spanish HbVar.2633 phenoCommon Hemoglobin variant HbVar.2634 protEffect HBA1 or HBA2 47(CE4) Phe>Val HbVar.2634 commonName Hb Hillingdon HbVar.2634 phenoCommon Hemoglobin variant HbVar.2635 protEffect HBA1 or HBA2 4(A1) Ser>Pro HbVar.2635 commonName Hb Central Middlesex HbVar.2635 ethnic British HbVar.2635 phenoCommon Hemoglobin variant HbVar.2636 protEffect HBA1 or HBA2 49(CE6) Leu>Pro HbVar.2636 commonName Hb Reading HbVar.2636 ethnic British HbVar.2636 phenoCommon Hemoglobin variant HbVar.2637 protEffect HBA1 or HBA2 91(FG2) Lys>Glu HbVar.2637 commonName Hb Sudbury HbVar.2637 ethnic Asian HbVar.2637 phenoCommon Hemoglobin variant HbVar.2638 protEffect HBA1 107(G13) Leu>Pro HbVar.2638 commonName Hb Charlieu HbVar.2638 ethnic French Caucasian HbVar.2638 phenoCommon Hemoglobin variant HbVar.2639 protEffect HBA1 or HBA2 89(F9) Ala>Glu HbVar.2639 commonName Hb Wroclaw HbVar.2639 ethnic Polish HbVar.2639 phenoCommon Hemoglobin variant HbVar.2640 protEffect HBA1 or HBA2 99(G5) Phe>Tyr HbVar.2640 commonName Hb Mill Hill HbVar.2640 ethnic Black HbVar.2640 phenoCommon Hemoglobin variant HbVar.2641 protEffect HBA1 2(NA1) Val>Leu HbVar.2641 commonName Hb Baldock HbVar.2641 ethnic British HbVar.2641 phenoCommon Hemoglobin variant HbVar.2642 protEffect HBA2 115(GH2) Pro>Thr HbVar.2642 commonName Hb Jura HbVar.2642 alias Hb Bamako HbVar.2642 ethnic French Caucasian HbVar.2642 ethnic West African HbVar.2642 phenoCommon Hemoglobin variant HbVar.2643 protEffect HBA2 5(A2) Pro>Arg HbVar.2643 commonName Hb Goree HbVar.2643 ethnic West African HbVar.2643 phenoCommon Hemoglobin variant HbVar.2644 protEffect HBB 136(H13) Ala>Val HbVar.2644 commonName Hb Alperton HbVar.2644 ethnic Indian HbVar.2644 phenoCommon Hemoglobin variant HbVar.2645 protEffect HBA2 85(F5) Ser>Asn HbVar.2645 commonName Hb Meulan HbVar.2645 ethnic Sicilian HbVar.2645 phenoCommon Hemoglobin variant HbVar.2647 protEffect HBB 134(H11) Val>Met HbVar.2647 commonName Hb La Pommeraie HbVar.2647 ethnic French Caucasian HbVar.2647 phenoCommon Hemoglobin variant HbVar.2649 protEffect HBA1 75(EF3) Asp>Val HbVar.2649 commonName Hb Les Lilas HbVar.2649 ethnic French Caucasian HbVar.2649 phenoCommon Hemoglobin variant HbVar.2650 protEffect HBA1 or HBA2 135(H17) Thr>Ser HbVar.2650 commonName Hb Kenton HbVar.2650 ethnic Pakistani HbVar.2650 phenoCommon Hemoglobin variant HbVar.2651 protEffect HBG1 132(H9) Gln>His HbVar.2651 commonName Hb F-Oman HbVar.2651 ethnic Oman HbVar.2651 phenoCommon Hemoglobin variant HbVar.2652 protEffect HBG1 23(B4) Asp>Asn HbVar.2652 commonName Hb F-Beni Khirane HbVar.2652 ethnic Moroccan HbVar.2652 phenoCommon Hemoglobin variant HbVar.2653 protEffect HBG2 102(G3) Glu>Gln HbVar.2653 commonName Hb F-Zheijang HbVar.2653 phenoCommon Hemoglobin variant HbVar.2654 protEffect HBB 41(C6) Arg>Met HbVar.2654 commonName Hb Taipei-Tien HbVar.2654 ethnic Taiwanese HbVar.2654 phenoCommon Hemoglobin variant HbVar.2656 commonName IVS-II-1(G>A)delta0 HbVar.2656 alias Delta nt494G>A HbVar.2656 phenoCommon delta0 thalassemia HbVar.2659 protEffect HBD Initiation codon Met>Ile HbVar.2659 commonName HBD c.1 G>A HbVar.2659 alias Delta nt53 G>A HbVar.2659 ethnic Chinese HbVar.2659 phenoCommon delta0 thalassemia HbVar.2661 protEffect HBA2 92(FG3) Leu>Phe HbVar.2661 commonName Hb Treviso HbVar.2661 ethnic Italian HbVar.2661 phenoCommon Hemoglobin variant HbVar.2662 protEffect HBB 122(GH 5) Phe>Ser HbVar.2662 commonName Hb Caruaru HbVar.2662 ethnic Brazilian HbVar.2662 phenoCommon Hemoglobin variant HbVar.2663 protEffect HBB 23(B4) - 26(B7) Glu-Val-Gly-Gly->0 HbVar.2663 commonName Hb Olinda HbVar.2663 ethnic Brazilian HbVar.2663 phenoCommon Hemoglobin variant HbVar.2664 protEffect HBB 143 (-CC); modified C-terminal sequence: (143)Ala-Gln-Val-Ser-Leu-Ser-Ser-Leu-Ser-Cys-
Cys-Pro-Ile-Ser-Ile-Lys-Gly-Ser-Phe-Val-
Pro-(163)COOH HbVar.2664 commonName Hb Uzes HbVar.2664 ethnic French HbVar.2664 phenoCommon Hemoglobin variant HbVar.2665 protEffect HBA1 or HBA2 72(E20) Ala>Thr HbVar.2665 commonName Hb Hatfield HbVar.2665 phenoCommon Hemoglobin variant HbVar.2666 protEffect HBB 44(CD2) Glu>Gly HbVar.2666 commonName Hb Haringey HbVar.2666 phenoCommon Hemoglobin variant HbVar.2667 protEffect HBA1 29(B9) Ala>Val HbVar.2667 commonName Hb Nedlands HbVar.2667 ethnic Greek HbVar.2667 phenoCommon Hemoglobin variant HbVar.2668 protEffect HBB 7(A3) Glu>Lys AND HBB 99(FG5) Val>Met HbVar.2668 commonName Hb Kingsbury HbVar.2668 ethnic African HbVar.2668 phenoCommon Hemoglobin variant HbVar.2669 protEffect HBA2 or HBA1 51(CE8) His>Tyr HbVar.2669 commonName Hb South Yorkshire HbVar.2669 ethnic British HbVar.2669 phenoCommon Hemoglobin variant HbVar.2670 protEffect HBA2 or HBA1 111(G17) Ala>Val HbVar.2670 commonName Hb White Rose HbVar.2670 ethnic British HbVar.2670 phenoCommon Hemoglobin variant HbVar.2671 protEffect HBA2 or HBA1 115(GH2) Pro>Ala HbVar.2671 commonName Hb Broomhill HbVar.2671 ethnic Chinese HbVar.2671 phenoCommon Hemoglobin variant HbVar.2672 protEffect HBB 59(E2) Pro>His HbVar.2672 commonName Hb Sheffield HbVar.2672 ethnic British HbVar.2672 ethnic Oman HbVar.2672 phenoCommon Hemoglobin variant HbVar.2673 protEffect HBA1 21(B1) His>Gln HbVar.2673 commonName Hb Brugg HbVar.2673 ethnic Swiss HbVar.2673 phenoCommon Hemoglobin variant HbVar.2674 protEffect HBA1 or HBA2 69(E17) Asn>Tyr HbVar.2674 commonName Hb Chelmsford HbVar.2674 phenoCommon Hemoglobin variant HbVar.2675 protEffect HBA1 or HBA2 39(C3) Thr>Ala HbVar.2675 commonName Hb Beaconsfield HbVar.2675 ethnic English HbVar.2675 phenoCommon Hemoglobin variant HbVar.2676 protEffect HBD 40(C5) Gln>His HbVar.2676 commonName Hb A2-Lyon HbVar.2676 ethnic French HbVar.2676 phenoCommon Hemoglobin variant HbVar.2677 protEffect HBB 6(A2) Pro>Leu HbVar.2677 commonName Hb Aix-les-Bains HbVar.2677 ethnic Italian HbVar.2677 phenoCommon Hemoglobin variant HbVar.2678 protEffect HBA1 116(GH3) Ala>Val HbVar.2678 commonName Hb Palmela HbVar.2678 ethnic Portuguese HbVar.2678 phenoCommon Hemoglobin variant HbVar.2679 protEffect HBA1 133(H15) Val>Met HbVar.2679 commonName Hb Portimao HbVar.2679 ethnic Portuguese HbVar.2679 phenoCommon Hemoglobin variant HbVar.2680 protEffect HBD 75(E18) Gly>Asp HbVar.2680 commonName Hb A2-Asti HbVar.2680 ethnic Italian HbVar.2680 phenoCommon Hemoglobin variant HbVar.2681 protEffect HBD 8(A4) Glu>Asp HbVar.2681 commonName Hb A2-Pordenone HbVar.2681 ethnic Italian HbVar.2681 phenoCommon Hemoglobin variant HbVar.2682 protEffect HBB 5(A1) Thr>Pro HbVar.2682 commonName Hb Benin City HbVar.2682 ethnic Nigerian HbVar.2682 phenoCommon Hemoglobin variant HbVar.2683 protEffect HBB 4(NA3) Leu>Met HbVar.2683 commonName Hb Niguarda HbVar.2683 ethnic Italian HbVar.2683 phenoCommon Hemoglobin variant HbVar.2685 protEffect HBD 3(NA2) His>Asn HbVar.2685 commonName Hb A2 codon 2 (CAT->AAT) HbVar.2685 phenoCommon Hemoglobin variant HbVar.2686 protEffect HBD 53(D3) Asp>His HbVar.2686 commonName Hb A2 codon 52 (GAT>CAT) HbVar.2686 phenoCommon Hemoglobin variant HbVar.2688 protEffect HBD 82(EF5) Leu>Phe HbVar.2688 commonName Hb A2 codon 81 (CTC>TTC) HbVar.2688 phenoCommon Hemoglobin variant HbVar.2690 protEffect HBB 23(B4) Glu>Asp HbVar.2690 commonName Hb beta codon 22 (GAA>GAT) HbVar.2690 phenoCommon Hemoglobin variant HbVar.2691 protEffect HBB 36(C1) Tyr>His HbVar.2691 commonName Hb beta codon 35 (TAC>CAC) HbVar.2691 phenoCommon Hemoglobin variant HbVar.2692 protEffect HBB 43(CD1) Phe>Cys HbVar.2692 commonName Hb beta codon 42 (TTT>TGT) HbVar.2692 phenoCommon Hemoglobin variant HbVar.2693 protEffect HBB 58(E1) Asn>Ser HbVar.2693 commonName Hb beta codon 57 (AAC>AGC) HbVar.2693 phenoCommon Hemoglobin variant HbVar.2694 protEffect HBB 119(GH1) Phe>Ser HbVar.2694 commonName Hb beta codon 118 (TTT>TCT) HbVar.2694 phenoCommon Hemoglobin variant HbVar.2695 protEffect HBA2 71(E19) Val>Gly HbVar.2695 commonName Hb alpha2 codon 70 (GTG>GGG) HbVar.2695 phenoCommon Hemoglobin variant HbVar.2696 protEffect HBA1 87(F7) Leu>Val HbVar.2696 commonName Hb alpha1 codon 86 (CTG>GTG) HbVar.2696 phenoCommon Hemoglobin variant HbVar.2697 protEffect HBA2 117(GH4) Glu>Val HbVar.2697 commonName Hb alpha2 codon 116 (GAG>GTG) HbVar.2697 phenoCommon Hemoglobin variant HbVar.2698 protEffect HBA2 128(H10) Lys>Glu HbVar.2698 commonName Hb alpha2 codon 127 (AAG-GAG) HbVar.2698 phenoCommon Hemoglobin variant HbVar.2700 commonName -88 (C>G) HbVar.2700 phenoCommon beta (0 or + unclear) thalassemia HbVar.2701 commonName -71 (C>T) HbVar.2701 phenoCommon beta (0 or + unclear) thalassemia HbVar.2702 commonName -30 T>G HbVar.2702 phenoCommon beta (0 or + unclear) thalassemia HbVar.2703 commonName Codon 5/6 (-TG) HbVar.2703 phenoCommon beta (0 or + unclear) thalassemia HbVar.2705 protEffect HBB 74(+T); modified C-terminal sequence: (74)stop codon HbVar.2705 commonName Codon 72/73 (+T) HbVar.2705 phenoCommon beta (0 or + unclear) thalassemia HbVar.2706 commonName IVS2-2 (-TGAGTCTATGGG) HbVar.2706 phenoCommon beta (0 or + unclear) thalassemia HbVar.2707 commonName IVS2-781 C>G HbVar.2707 phenoCommon beta (0 or + unclear) thalassemia HbVar.2708 commonName A Gamma -197 C>T HbVar.2708 phenoCommon HPFH thalassemia HbVar.2709 commonName G Gamma -197 C>T HbVar.2709 phenoCommon HPFH thalassemia HbVar.2710 commonName -50 G>A HbVar.2710 phenoCommon beta+ thalassemia HbVar.2711 commonName -26 A>C HbVar.2711 phenoCommon beta (0 or + unclear) thalassemia HbVar.2713 protEffect HBB 107(G8) - 110(G11) Leu-Gly-Asn-Val->0 HbVar.2713 commonName Codon 106 (-CTGGGCAACGTG) HbVar.2713 phenoCommon beta (0 or + unclear) thalassemia HbVar.2714 protEffect HBB 116(+TGTGCTG); modified C-terminal sequence: (116)Cys-Ala-Gly-Pro-Ser-Leu-Trp-Gln-Arg-Ile-His-Pro-
Thr-Ser-Ala-Gly-Cys-Leu-Ser-Glu-Ser-Gly-
Gly-Trp-Cys-Gly-(141)COOH HbVar.2714 commonName Codon 114 (+TGTGCTG) HbVar.2714 phenoCommon beta (0 or + unclear) thalassemia HbVar.2715 protEffect HBB 118 (-C); modified C-terminal sequence: (118)His-Leu-Ala-Lys-Asn-Ser-Pro-His-Gln-Cys-
Arg-Leu-Pro-Ile-Arg-Lys-Trp-Trp-Leu-Val-
Trp-Leu-Met-Pro-Trp-Pro-Thr-Ser-Ile-Thr-
Lys-Leu-Ala-Phe-Leu-Leu-Ser-Asn-Phe-Tyr-(157)COOH HbVar.2715 commonName Codon 117 (-C) HbVar.2715 phenoCommon beta (0 or + unclear) thalassemia HbVar.2716 protEffect HBB 126(H3) - 127(H4) Pro-Val->0 HbVar.2716 commonName Codon 125 (-CCAGTG) HbVar.2716 phenoCommon beta (0 or + unclear) thalassemia HbVar.2717 protEffect HBB 131(H8) Tyr>Stop HbVar.2717 commonName Codon 130 (TAT->TAA) HbVar.2717 phenoCommon beta (0 or + unclear) thalassemia HbVar.2718 protEffect HBB 132(+A); modified C-terminal sequence: (132)Gln-Glu-Ser-Gly-Gly-Trp-Cys-Gly-(139)COOH HbVar.2718 commonName Codon 131 (+A) HbVar.2718 phenoCommon beta (0 or + unclear) thalassemia HbVar.2720 commonName Poly A (A->T) AATAAA>AATATA HbVar.2720 phenoCommon beta (0 or + unclear) thalassemia HbVar.2721 commonName Poly A (-AA) HbVar.2721 phenoCommon beta (0 or + unclear) thalassemia HbVar.2722 commonName alpha1 Poly A (AATAAAG->AATAAAA) HbVar.2722 phenoCommon alpha-1 thalassemia HbVar.2723 protEffect HBA1 105(G11) Cys>Trp HbVar.2723 commonName alpha1 Codon 104 (TGC>TGG) [Cys>Trp] HbVar.2723 phenoCommon alpha-1 thalassemia HbVar.2724 protEffect HBA1 109 (-C); modified C-terminal sequence: (109)Thr-Trp-Pro-Pro-Thr-Ser-Pro-Pro-Ser-Ser-
Pro-Leu-Arg-Cys-Thr-Pro-Pro-Trp-Thr-Ser-
Ser-Trp-Leu-Leu-(132)COOH HbVar.2724 commonName alpha1 Codon 108 (-C) HbVar.2724 phenoCommon alpha-1 thalassemia HbVar.2725 commonName alpha1 Codon 124-128 (-13bp) HbVar.2725 phenoCommon alpha-1 thalassemia HbVar.2726 protEffect HBA2 38 (-C); modified C-terminal sequence HbVar.2726 commonName alpha2 Codon 37 (-C) HbVar.2726 phenoCommon alpha-2 thalassemia HbVar.2727 protEffect HBA2 23(+T); modified C-terminal sequence: (23)Trp-Arg-Val-Trp-Cys-Gly-Gly-Pro-Gly-Glu-
Asp-Val-Pro-Val-Leu-Pro-His-His-Gln-Asp-
Leu-Leu-Pro-Ala-Leu-Arg-Pro-Glu-Pro-Arg-
Leu-Cys-Pro-Gly-(56)COOH HbVar.2727 commonName alpha2 Codon 21/22 (+T) HbVar.2727 phenoCommon alpha-2 thalassemia HbVar.2728 protEffect HBA2 48 (-A); modified C-terminal sequence: (48)Ala-(48)COOH HbVar.2728 commonName alpha2 Codon 47 (-A) HbVar.2728 phenoCommon alpha-2 thalassemia HbVar.2729 protEffect HBA2 53(+G); modified C-terminal sequence: (53)Val-Cys-Pro-Gly-(56)COOH HbVar.2729 commonName alpha2 Codon 51/52 (+G) HbVar.2729 phenoCommon alpha-2 thalassemia HbVar.2730 protEffect HBA2 64(E12) - 77(EF5) Ala-Asp-Ala-Leu-Thr-Asn-Ala-Val-Ala-His-Val-Asp-Asp-Met->0 HbVar.2730 commonName alpha2 Codon 63-76 (-42bp) HbVar.2730 phenoCommon alpha-2 thalassemia HbVar.2731 commonName hg19 chr16:g.(?_103625)_(163701_193676)del HbVar.2731 alias deletion of HS-40 region HbVar.2731 phenoCommon alpha (1 or 2 unclear) thalassemia HbVar.2732 protEffect HBA2 102(G8) Leu>Pro HbVar.2732 commonName alpha2 Codon 101 (CTA>CCA) HbVar.2732 phenoCommon alpha-2 thalassemia HbVar.2733 protEffect HBB 31(B12) Arg>Arg HbVar.2733 commonName Codon 30 A>C [IVSI (-2) HbVar.2733 phenoCommon beta (0 or + unclear) thalassemia HbVar.2734 protEffect HBA2 32(B12) Arg>Lys HbVar.2734 commonName alpha2 Codon 31 (AGG>AAG) HbVar.2734 phenoCommon alpha-2 thalassemia HbVar.2735 protEffect HBB 126(+A); modified C-terminal sequence: (126)Thr-Ser-Ala-Gly-Cys-Leu-Ser-Glu-Ser-Gly-
Gly-Trp-Cys-Gly-(139)COOH HbVar.2735 commonName Codon 124/125(+A) HbVar.2735 phenoCommon beta (0 or + unclear) thalassemia HbVar.2736 protEffect HBA1 63 (-G); modified C-terminal sequence: (63)Val-Pro-Thr-Arg-(66)COOH HbVar.2736 commonName Codon 62 (-G) HbVar.2736 phenoCommon alpha-1 thalassemia HbVar.2737 protEffect HBA2 15(A12) Trp>Leu HbVar.2737 commonName Hb Codon 14 (TGG>TTG) HbVar.2737 phenoCommon alpha-2 thalassemia HbVar.2738 commonName Afghan deletion beta0 (909 bp del) HbVar.2738 phenoCommon beta0 thalassemia HbVar.2740 protEffect HBD 145(HC1) Lys>Thr HbVar.2740 commonName Hb A2-San Floro HbVar.2740 ethnic Italian HbVar.2740 phenoCommon Hemoglobin variant HbVar.2741 protEffect HBA2 98(G4) Asn>Asp HbVar.2741 commonName Hb Cheektowaga HbVar.2741 ethnic Polish HbVar.2741 phenoCommon Hemoglobin variant HbVar.2742 protEffect HBA2 22(B2) Ala>Val HbVar.2742 commonName Hb Venetia HbVar.2742 ethnic American HbVar.2742 phenoCommon Hemoglobin variant HbVar.2743 protEffect Leu- inserted between codons 3(NA2) and 4(A1) of HBA1 HbVar.2743 commonName Hb Pittsburgh HbVar.2743 ethnic American HbVar.2743 phenoCommon Hemoglobin variant HbVar.2744 protEffect HBA1 19(A16) Gly>Cys HbVar.2744 commonName Hb Lima HbVar.2744 phenoCommon Hemoglobin variant HbVar.2746 protEffect HBD 91(F6) Glu>Gly HbVar.2746 commonName Hb A2-India HbVar.2746 ethnic Indian HbVar.2746 phenoCommon Hemoglobin variant HbVar.2747 protEffect HBA2 86(F6) Asp>Gly HbVar.2747 commonName Hb Benton HbVar.2747 ethnic Caucasian HbVar.2747 phenoCommon Hemoglobin variant HbVar.2748 protEffect HBA2 123(H5) His>Leu HbVar.2748 commonName Hb Dubai HbVar.2748 ethnic United Arab Emirates HbVar.2748 phenoCommon Hemoglobin variant HbVar.2749 protEffect HBA1 111(G17) Ala>Val HbVar.2749 commonName Hb Montluel HbVar.2749 alias Hb White Rose HbVar.2749 ethnic French Caucasian HbVar.2749 phenoCommon Hemoglobin variant HbVar.2750 protEffect HBA2 25(B5) Tyr>Stop HbVar.2750 commonName Codon 24 (T>G) HbVar.2750 ethnic African-American HbVar.2750 phenoCommon alpha-2 thalassemia HbVar.2751 protEffect HBA1 97(G3) Val>Leu HbVar.2751 commonName Hb Woodstock HbVar.2751 ethnic Caucasian HbVar.2751 phenoCommon Hemoglobin variant HbVar.2752 protEffect HBA1 72(E20) Ala>Val HbVar.2752 commonName Hb Allison Park HbVar.2752 ethnic Caucasian HbVar.2752 phenoCommon Hemoglobin variant HbVar.2753 protEffect HBB 4(NA3) Leu>Pro HbVar.2753 commonName Hb Jabalpur HbVar.2753 ethnic Pakistani HbVar.2753 phenoCommon Hemoglobin variant HbVar.2754 protEffect HBA2 113(G19) His>Tyr HbVar.2754 commonName Hb Kansas City HbVar.2754 ethnic Caucasian HbVar.2754 phenoCommon Hemoglobin variant HbVar.2756 protEffect HBA2 3(NA2) Leu>Pro HbVar.2756 commonName Hb Kaiser West End HbVar.2756 ethnic Caucasian HbVar.2756 phenoCommon Hemoglobin variant HbVar.2757 protEffect HBA2 64(E12) Ala>Val HbVar.2757 commonName Hb Aberystwyth HbVar.2757 alias Hb Nakhon Ratchsima HbVar.2757 ethnic Thai HbVar.2757 phenoCommon Hemoglobin variant HbVar.2758 protEffect HBD 120(GH2) Gly>Asp HbVar.2758 commonName Hb A2-Lewisburg HbVar.2758 ethnic Italian HbVar.2758 phenoCommon Hemoglobin variant HbVar.2759 protEffect HBA2 88(F8) His>Gln HbVar.2759 commonName Hb Lansing HbVar.2759 ethnic African-American HbVar.2759 ethnic Caucasian HbVar.2759 ethnic Mexican HbVar.2759 phenoCommon Hemoglobin variant HbVar.2760 protEffect HBB 145(HC1) Lys-Tyr-His->0 HbVar.2760 commonName Hb Cambridge-MA HbVar.2760 ethnic Caucasian HbVar.2760 ethnic German HbVar.2760 phenoCommon Hemoglobin variant HbVar.2761 protEffect HBA1 16(A13) Gly>Cys HbVar.2761 commonName Hb St. Rose HbVar.2761 ethnic Indian HbVar.2761 ethnic Pakistani HbVar.2761 phenoCommon Hemoglobin variant HbVar.2762 protEffect HBA2 113(G19) His>Asn HbVar.2762 commonName Hb Royal Oak HbVar.2762 ethnic Caucasian HbVar.2762 ethnic Northern European HbVar.2762 phenoCommon Hemoglobin variant HbVar.2763 protEffect HBA2 89(F9) Ala>Thr HbVar.2763 commonName Hb Voorhees HbVar.2763 ethnic Caucasian HbVar.2763 ethnic European HbVar.2763 phenoCommon Hemoglobin variant HbVar.2764 protEffect HBA2 24(B4) Glu>Ala HbVar.2764 commonName Hb Dayton HbVar.2764 ethnic African-American HbVar.2764 phenoCommon Hemoglobin variant HbVar.2765 protEffect HBA2 116(GH3) Ala->0 HbVar.2765 commonName Hb Towson HbVar.2765 ethnic Caucasian HbVar.2765 ethnic Northern European HbVar.2765 phenoCommon Hemoglobin variant HbVar.2766 protEffect HBA2 100(G6) Lys>Asn HbVar.2766 commonName Hb Fulton HbVar.2766 ethnic African-American HbVar.2766 phenoCommon Hemoglobin variant HbVar.2768 protEffect HBA2 4(A1) Ser>Cys HbVar.2768 commonName Hb Teterboro HbVar.2768 ethnic African-American HbVar.2768 phenoCommon Hemoglobin variant HbVar.2769 protEffect HBA2 87(F7) Leu>Val HbVar.2769 commonName Hb Ridgewood HbVar.2769 phenoCommon Hemoglobin variant HbVar.2770 protEffect HBB 27(B8) Glu>Gln HbVar.2770 commonName Hb King's Mill HbVar.2770 phenoCommon Hemoglobin variant HbVar.2771 protEffect HBA2 38(C2) Pro>Ser HbVar.2771 commonName Hb Boskoop HbVar.2771 phenoCommon Hemoglobin variant HbVar.2772 protEffect HBB 17(A13) Gly>Cys HbVar.2772 commonName Hb Whitmire HbVar.2772 ethnic African-American HbVar.2772 phenoCommon Hemoglobin variant HbVar.2775 protEffect HBA2 97(G3) Val>Ile HbVar.2775 commonName Hb El Salvador HbVar.2775 ethnic Hispanic HbVar.2775 phenoCommon Hemoglobin variant HbVar.2776 protEffect HBA2 31(B11) Glu->0 HbVar.2776 commonName Alpha2 Codon 30 del GAG HbVar.2776 ethnic Caucasian HbVar.2776 ethnic European HbVar.2776 phenoCommon alpha-2 thalassemia HbVar.2777 protEffect HBD 83(EF6) Lys>Stop HbVar.2777 commonName Codon 82 (AAG->TAG) delta0 HbVar.2777 ethnic Indonesian HbVar.2777 phenoCommon delta (0 or + unclear) thalassemia HbVar.2778 commonName IVS I-45 G>C HbVar.2778 phenoCommon alpha-1 thalassemia HbVar.2779 protEffect HBA2 47(CE4) Phe>Ser HbVar.2779 commonName Hb Lake Tapawingo HbVar.2779 ethnic Caucasian HbVar.2779 phenoCommon Hemoglobin variant HbVar.2780 protEffect HBA1 113(G19) His>Gln HbVar.2780 commonName Hb West Allis HbVar.2780 ethnic African-American HbVar.2780 phenoCommon Hemoglobin variant HbVar.2781 protEffect HBD 7(A3) Glu>Gln HbVar.2781 commonName Hb A2-Ramallah HbVar.2781 phenoCommon Hemoglobin variant HbVar.2782 protEffect HBB 7(A3) Glu>Val AND HBB 106(G7) Leu>Pro HbVar.2782 commonName Hb S-San Martin HbVar.2782 ethnic Argentine HbVar.2782 phenoCommon Hemoglobin variant HbVar.2783 protEffect HBA1 15(A12) Trp>Leu HbVar.2783 commonName Hb Basel HbVar.2783 ethnic Portuguese HbVar.2783 phenoCommon Hemoglobin variant HbVar.2784 protEffect HBA1 33(B13) Met>Lys HbVar.2784 commonName Hb Queens Park HbVar.2784 ethnic Australian HbVar.2784 phenoCommon Hemoglobin variant HbVar.2785 protEffect HBB 7(A3) Glu>Val AND HBB 9(A5) Lys>Thr HbVar.2785 commonName Hb S-Clichy HbVar.2785 phenoCommon Hemoglobin variant HbVar.2788 protEffect HBG1 120(GH2) Gly>Ser HbVar.2788 commonName Hb F-Osilo HbVar.2788 phenoCommon Hemoglobin variant HbVar.2790 protEffect HBG2 81(EF4) Asp>Tyr HbVar.2790 commonName Hb F-Paulinia HbVar.2790 phenoCommon Hemoglobin variant HbVar.2791 protEffect HBB 8(A4) Glu>Asp HbVar.2791 commonName Hb Stockholm HbVar.2791 phenoCommon Hemoglobin variant HbVar.2792 protEffect HBA2 8(A5) Lys>Gln HbVar.2792 commonName Hb J-Brainerd HbVar.2792 ethnic Scandinavian HbVar.2792 phenoCommon Hemoglobin variant HbVar.2794 protEffect HBA2 8(A5) Lys>Thr HbVar.2794 commonName Hb Nayarit HbVar.2794 ethnic Mexican HbVar.2794 phenoCommon Hemoglobin variant HbVar.2795 protEffect HBA1 43(C7) Tyr>Ser HbVar.2795 commonName Hb Erzeroum HbVar.2795 ethnic Turkish HbVar.2795 phenoCommon Hemoglobin variant HbVar.2796 protEffect HBA1 14(A11) Ala>Thr HbVar.2796 commonName Hb Olivet HbVar.2796 ethnic French HbVar.2796 phenoCommon Hemoglobin variant HbVar.2797 protEffect HBB 81(EF4) Asn>His HbVar.2797 commonName Hb East Timor HbVar.2797 phenoCommon Hemoglobin variant HbVar.2798 protEffect HBB 68(E11) Val>Met AND HBB 42(C7) Phe>Leu HbVar.2798 commonName Hb Brevedent HbVar.2798 ethnic French HbVar.2798 phenoCommon Hemoglobin variant HbVar.2800 protEffect HBA1 21(+T); modified C-terminal sequence: (21)His-Arg-Trp-Arg-Val-Trp-Cys-Gly-Gly-Pro-
Gly-Glu-Asp-Val-Pro-Val-Leu-Pro-His-His-
Gln-Asp-Leu-Leu-Pro-Ala-Leu-Arg-Pro-Glu-
Pro-Arg-Leu-Cys-Pro-Gly-(56)COOH HbVar.2800 commonName Hb alpha1 codon20(+T) HbVar.2800 ethnic French HbVar.2800 phenoCommon Thalassemia HbVar.2801 protEffect HBA2 91(FG2) Lys>Gln HbVar.2801 commonName Hb Bergerac HbVar.2801 ethnic French Caucasian HbVar.2801 phenoCommon Hemoglobin variant HbVar.2802 protEffect HBB 135(H12) Val>Gly HbVar.2802 commonName Hb Olupona HbVar.2802 ethnic Nigerian HbVar.2802 phenoCommon Hemoglobin variant HbVar.2803 protEffect HBA2 90(FG1) His>Gln HbVar.2803 commonName Hb Enfield HbVar.2803 ethnic African HbVar.2803 phenoCommon Hemoglobin variant HbVar.2804 protEffect HBB 81(EF4) Asn>Asp HbVar.2804 commonName Hb Valley park HbVar.2804 ethnic Caucasian HbVar.2804 phenoCommon Hemoglobin variant HbVar.2806 protEffect HBD 144(H21) His>Tyr HbVar.2806 commonName Hb Noah Mehmet Oeztuerk HbVar.2806 ethnic Turkish HbVar.2806 phenoCommon Hemoglobin variant HbVar.2807 protEffect Ggamma-beta hybrid (HBG2 through 14; HBB from 21) HbVar.2807 commonName Hb Ulsan HbVar.2807 ethnic Korean HbVar.2807 phenoCommon Hemoglobin variant HbVar.2808 protEffect HBB 40 (-A); modified C-terminal sequence: (40)Arg-Gly-Ser-Leu-Ser-Pro-Leu-Gly-Ile-Cys-
Pro-Leu-Leu-Met-Leu-Leu-Trp-Ala-Thr-Leu-
Arg-(60)COOH HbVar.2808 commonName Codon 39 (-A) HbVar.2808 phenoCommon beta0 thalassemia HbVar.2809 protEffect HBG2 147(HC3) His>Arg HbVar.2809 commonName Hb F-Istambul HbVar.2809 ethnic Turkish HbVar.2809 phenoCommon Hemoglobin variant HbVar.2810 protEffect HBG2 94(F9) Cys>Arg HbVar.2810 commonName Hb F-Monserrato-Sassari HbVar.2810 ethnic Sardinian HbVar.2810 phenoCommon Hemoglobin variant HbVar.2811 protEffect HBG1 122(GH4) Glu>Val HbVar.2811 commonName Hb F-Salamanque HbVar.2811 ethnic Spanish HbVar.2811 phenoCommon Hemoglobin variant HbVar.2812 protEffect HBA1 or HBA2 55(E3) Gln>His HbVar.2812 commonName Hb PRINCES RISBOROUGH HbVar.2812 ethnic Asian HbVar.2812 phenoCommon Hemoglobin variant HbVar.2813 protEffect HBA1 or HBA2 86(F6) Asp>Glu HbVar.2813 commonName Hb AYLESBURY HbVar.2813 phenoCommon Hemoglobin variant HbVar.2814 protEffect HBB 101(G2) Pro>Thr HbVar.2814 commonName Hb Bellevue II HbVar.2814 ethnic African-American HbVar.2814 phenoCommon Hemoglobin variant HbVar.2815 protEffect HBB 8(A4) Glu>Gln HbVar.2815 commonName Hb Bellevue III HbVar.2815 ethnic African-American HbVar.2815 phenoCommon Hemoglobin variant HbVar.2816 protEffect HBB 73(E16) Ser>Thr HbVar.2816 commonName Hb PHIMAI HbVar.2816 phenoCommon Hemoglobin variant HbVar.2817 protEffect HBA1 32(B12) Arg>Thr HbVar.2817 commonName Hb Mao HbVar.2817 ethnic Italian HbVar.2817 phenoCommon Hemoglobin variant HbVar.2818 protEffect HBB 27(B8) Glu>Asp HbVar.2818 commonName Hb Marijampole HbVar.2818 phenoCommon Hemoglobin variant HbVar.2819 protEffect HBB 106(G7) Leu>Pro HbVar.2819 commonName Hb Bellevue IV HbVar.2819 ethnic Hispanic HbVar.2819 phenoCommon Hemoglobin variant HbVar.2820 protEffect HBB 78(EF1) His>Asn HbVar.2820 commonName Hb Heilbronn HbVar.2820 ethnic German HbVar.2820 phenoCommon Hemoglobin variant HbVar.2822 protEffect HBB 105(G6) Arg>Gly HbVar.2822 commonName Hb Nimes HbVar.2822 ethnic French Caucasian HbVar.2822 phenoCommon Hemoglobin variant HbVar.2823 protEffect HBB 49 - 56 (-TCCACTCCTGATGCTGTTA); modified C-terminal sequence AND HBB 50(+AGCT); modified C-terminal sequence HbVar.2823 commonName Hb Martinez HbVar.2823 ethnic American Indian HbVar.2823 ethnic Caucasian HbVar.2823 phenoCommon beta (0 or + unclear) thalassemia HbVar.2825 protEffect HBA1 127(H9) Asp>Ala HbVar.2825 commonName Hb Verdun HbVar.2825 ethnic French Caucasian HbVar.2825 phenoCommon Hemoglobin variant HbVar.2826 protEffect HBA2 60(E8) Gly>Ser HbVar.2826 commonName Hb Parma [A2] HbVar.2826 ethnic Portuguese HbVar.2826 phenoCommon Hemoglobin variant HbVar.2827 protEffect HBB 120(GH2) Gly>Arg HbVar.2827 commonName Hb Angouleme HbVar.2827 ethnic French Caucasian HbVar.2827 phenoCommon Hemoglobin variant HbVar.2828 protEffect HBB 105(G6) Arg>Met HbVar.2828 commonName Hb Bad Salzuflen HbVar.2828 ethnic German HbVar.2828 phenoCommon Hemoglobin variant HbVar.2829 protEffect HBB 116(G17) Ala>Val HbVar.2829 commonName Hb Roma HbVar.2829 ethnic Italian HbVar.2829 phenoCommon Hemoglobin variant HbVar.2830 protEffect HBB 101(G2) Pro>Ser HbVar.2830 commonName Hb Niort HbVar.2830 ethnic French HbVar.2830 phenoCommon Hemoglobin variant HbVar.2832 protEffect HBA2 108 (-T); modified C-terminal sequence: (108)Gly-Pro-Trp-Pro-Pro-Thr-Ser-Pro-Pro-Ser-
Ser-Pro-Leu-Arg-Cys-Thr-Pro-Pro-Trp-Thr-
Ser-Ser-Trp-Leu-Leu-(132)COOH HbVar.2832 commonName Hb Lynwood HbVar.2832 ethnic Sudanese HbVar.2832 phenoCommon Hemoglobin variant HbVar.2833 protEffect HBD 30(B11) Gly>Asp HbVar.2833 commonName Hb A2 Hong Kong HbVar.2833 phenoCommon Hemoglobin variant HbVar.2834 protEffect HBA2 23(B3) - 26(B6) Gly-Glu-Tyr-Gly->0 AND inserted Gly HbVar.2834 commonName Hb Zhanjiang HbVar.2834 ethnic Chinese HbVar.2834 phenoCommon Hemoglobin variant HbVar.2835 protEffect HBB 90(F5) Ser>Arg HbVar.2835 commonName Hb Vanderbilt II HbVar.2835 phenoCommon Hemoglobin variant HbVar.2836 protEffect HBB 7(A3) Glu>Val AND HBB 66(E9) Lys>Glu HbVar.2836 commonName Hb S-Sao Paulo HbVar.2836 ethnic Brazilian HbVar.2836 phenoCommon Hemoglobin variant HbVar.2837 protEffect HBB 94(F9) Cys>Trp HbVar.2837 commonName Hb Santa Giusta Sardegna HbVar.2837 phenoCommon Hemoglobin variant HbVar.2838 protEffect HBB 94(F9) Cys>Ser HbVar.2838 commonName Hb Riesa HbVar.2838 phenoCommon Hemoglobin variant HbVar.2839 protEffect HBB 82(EF5) Leu>Phe HbVar.2839 commonName Hb Seville HbVar.2839 ethnic Spanish HbVar.2839 phenoCommon Hemoglobin variant HbVar.2840 protEffect HBA2 64(E12) Ala>Val HbVar.2840 commonName Hb Nakhon Ratchasima HbVar.2840 alias Hb Aberystwyth HbVar.2840 phenoCommon Hemoglobin variant ADAbase_D0001:g.29885G>A protEffect R142Q ADAbase_D0001:g.29885G>A mutType missense ADAbase_D0001:g.1135C>T protEffect Q3X ADAbase_D0001:g.1135C>T mutType nonsense ADAbase_D0001:g.28910G>A protEffect G74D ADAbase_D0001:g.28910G>A mutType missense ADAbase_D0001:g.28910G>T protEffect G74V ADAbase_D0001:g.28910G>T mutType missense ADAbase_D0001:g.32891C>T protEffect P274L ADAbase_D0001:g.32891C>T mutType missense ADAbase_D0001:g.28937C>A protEffect A83D ADAbase_D0001:g.28937C>A mutType missense ADAbase_D0001:g.28979A>G protEffect Y97C ADAbase_D0001:g.28979A>G mutType missense ADAbase_D0001:g.2430_5678del mutType no ADAbase_D0001:g.32461G>A protEffect A215T ADAbase_D0001:g.32461G>A mutType missense ADAbase_D0001:g.29003delA protEffect H105X132 ADAbase_D0001:g.29003delA mutType frameshift ADAbase_D0001:g.29827delG protEffect D123X132 ADAbase_D0001:g.29827delG mutType frameshift ADAbase_D0001:g.29879G>A protEffect G140E ADAbase_D0001:g.29879G>A mutType missense ADAbase_D0001:g.29884C>T protEffect R142X ADAbase_D0001:g.29884C>T mutType nonsense ADAbase_D0001:g.29927G>A protEffect R156H ADAbase_D0001:g.29927G>A mutType missense ADAbase_D0001:g.27156G>A protEffect R156H ADAbase_D0001:g.27156G>A mutType missense ADAbase_D0001:g.29831delG protEffect R235X310 ADAbase_D0001:g.29831delG mutType frameshift ADAbase_D0001:g.32497G>A protEffect E203_E226del ADAbase_D0001:g.32497G>A mutType loss ADAbase_D0001:g.32592C>T protEffect T233I ADAbase_D0001:g.32592C>T mutType missense ADAbase_D0001:g.30148G>A protEffect R282Q ADAbase_D0001:g.30148G>A mutType missense ADAbase_D0001:g.28906A>G protEffect G74_E121del ADAbase_D0001:g.28906A>G mutType loss ADAbase_D0001:g.32874T>A protEffect G360X406 ADAbase_D0001:g.32874T>A mutType frameshift ADAbase_D0001:g.32874_32885delinsA mutType no AICDAbase_D0002:g.6292_6310del protEffect N7X26 AICDAbase_D0002:g.6292_6310del mutType frameshift AICDAbase_D0002:g.6302T>C protEffect F11L AICDAbase_D0002:g.6302T>C mutType missense AICDAbase_D0002:g.7876_7877insT protEffect Y76X117 AICDAbase_D0002:g.7876_7877insT mutType frameshift AICDAbase_D0002:g.6341C>T protEffect R24W AICDAbase_D0002:g.6341C>T mutType missense AICDAbase_D0002:g.6398T>C protEffect S43P AICDAbase_D0002:g.6398T>C mutType missense AICDAbase_D0002:g.7816C>T protEffect H56Y AICDAbase_D0002:g.7816C>T mutType missense AICDAbase_D0002:g.7822G>A protEffect E58K AICDAbase_D0002:g.7822G>A mutType missense AICDAbase_D0002:g.7909T>C protEffect C87R AICDAbase_D0002:g.7909T>C mutType missense AICDAbase_D0002:g.7826_7834delTGCTCTTCC protEffect 59_62delinsF AICDAbase_D0002:g.7826_7834delTGCTCTTCC mutType inframe AICDAbase_D0002:g.7853G>A protEffect W68X AICDAbase_D0002:g.7853G>A mutType nonsense AICDAbase_D0002:g.7885_7893delACCTGGTTC protEffect T79_F81del AICDAbase_D0002:g.7885_7893delACCTGGTTC mutType inframe AICDAbase_D0002:g.7888T>C protEffect W80R AICDAbase_D0002:g.7888T>C mutType missense AICDAbase_D0002:g.7902G>A protEffect W84X AICDAbase_D0002:g.7902G>A mutType nonsense AICDAbase_D0002:g.7988T>C protEffect L113P AICDAbase_D0002:g.7988T>C mutType missense AICDAbase_D0002:g.7943T>G protEffect L98R AICDAbase_D0002:g.7943T>G mutType missense AICDAbase_D0002:g.7967T>C protEffect L106P AICDAbase_D0002:g.7967T>C mutType missense AICDAbase_D0002:g.7984C>T protEffect R112C AICDAbase_D0002:g.7984C>T mutType missense AICDAbase_D0002:g.8956delC protEffect P182X209 AICDAbase_D0002:g.8956delC mutType frameshift AICDAbase_D0002:g.7985G>A protEffect R112H AICDAbase_D0002:g.7985G>A mutType missense AICDAbase_D0002:g.8014G>T protEffect E122X AICDAbase_D0002:g.8014G>T mutType nonsense AICDAbase_D0002:g.8057T>A protEffect I136K AICDAbase_D0002:g.8057T>A mutType missense AICDAbase_D0002:g.8065A>G protEffect M139V AICDAbase_D0002:g.8065A>G mutType missense AICDAbase_D0002:g.8384C>A protEffect C147X AICDAbase_D0002:g.8384C>A mutType nonsense AICDAbase_D0002:g.8395T>C protEffect F151S AICDAbase_D0002:g.8395T>C mutType missense AICDAbase_D0002:g.8465A>C protEffect R174S AICDAbase_D0002:g.8465A>C mutType missense AICDAbase_D0002:g.8980C>T protEffect R190X AICDAbase_D0002:g.8980C>T mutType nonsense AICDAbase_D0002:g.6428G>T protEffect N53X67 AICDAbase_D0002:g.6428G>T mutType insertion AICDAbase_D0002:g.8954A>G protEffect 181_181delins32 AICDAbase_D0002:g.8954A>G mutType inframe AICDAbase_D0002:g.8487G>C protEffect D143X146 AICDAbase_D0002:g.8487G>C mutType frameshift AIREbase_D0003:g.4707A>T protEffect M1L AIREbase_D0003:g.4707A>T mutType initiation AIREbase_D0003:g.8473C>T protEffect R257X AIREbase_D0003:g.8473C>T mutType nonsense AIREbase_D0003:g.4749C>T protEffect R15C AIREbase_D0003:g.4749C>T mutType missense AIREbase_D0003:g.4750G>T protEffect R15L AIREbase_D0003:g.4750G>T mutType missense AIREbase_D0003:g.9882_9894del protEffect 323_327delins51 AIREbase_D0003:g.9882_9894del mutType frameshift AIREbase_D0003:g.4749_4750ins protEffect R15X19 AIREbase_D0003:g.4749_4750ins mutType frameshift AIREbase_D0003:g.4753C>T protEffect T16M AIREbase_D0003:g.4753C>T mutType missense AIREbase_D0003:g.5356T>A protEffect W78R AIREbase_D0003:g.5356T>A mutType missense AIREbase_D0003:g.4770_4775delGTGGAC protEffect V22_D23del AIREbase_D0003:g.4770_4775delGTGGAC mutType inframe AIREbase_D0003:g.4789T>C protEffect L28P AIREbase_D0003:g.4789T>C mutType missense AIREbase_D0003:g.11846delC protEffect L417X479 AIREbase_D0003:g.11846delC mutType frameshift AIREbase_D0003:g.4792T>C protEffect L29P AIREbase_D0003:g.4792T>C mutType missense AIREbase_D0003:g.5315_5350del protEffect 64_76delinsY AIREbase_D0003:g.5315_5350del mutType inframe AIREbase_D0003:g.5332_5333insCAGG protEffect D70X217 AIREbase_D0003:g.5332_5333insCAGG mutType frameshift AIREbase_D0003:g.5354T>C protEffect F77S AIREbase_D0003:g.5354T>C mutType missense AIREbase_D0003:g.5356T>C protEffect W78R AIREbase_D0003:g.5356T>C mutType missense AIREbase_D0003:g.11078C>T protEffect Q358X AIREbase_D0003:g.11078C>T mutType nonsense AIREbase_D0003:g.8459C>T protEffect P252L AIREbase_D0003:g.8459C>T mutType missense AIREbase_D0003:g.5371A>G protEffect K83E AIREbase_D0003:g.5371A>G mutType missense AIREbase_D0003:g.5393A>G protEffect Y90C AIREbase_D0003:g.5393A>G mutType missense AIREbase_D0003:g.5402T>G protEffect L93R AIREbase_D0003:g.5402T>G mutType missense AIREbase_D0003:g.5785C>T protEffect R139X AIREbase_D0003:g.5785C>T mutType nonsense AIREbase_D0003:g.6270C>T protEffect Q173X AIREbase_D0003:g.6270C>T mutType nonsense AIREbase_D0003:g.7046delG protEffect G180X377 AIREbase_D0003:g.7046delG mutType frameshift AIREbase_D0003:g.7113C>T protEffect R203X AIREbase_D0003:g.7113C>T mutType nonsense AIREbase_D0003:g.8386G>T protEffect G228W AIREbase_D0003:g.8386G>T mutType missense AIREbase_D0003:g.16426A>T protEffect 546_546delins61 AIREbase_D0003:g.16426A>T mutType terminator AIREbase_D0003:g.11839_11840insA protEffect H415X423 AIREbase_D0003:g.11839_11840insA mutType frameshift AIREbase_D0003:g.9892C>T protEffect P326L AIREbase_D0003:g.9892C>T mutType missense AIREbase_D0003:g.8350_8352delCTC protEffect G218X284 AIREbase_D0003:g.8350_8352delCTC mutType insertion AIREbase_D0003:g.9846delT protEffect C311X377 AIREbase_D0003:g.9846delT mutType frameshift AIREbase_D0003:g.9816G>A protEffect V301M AIREbase_D0003:g.9816G>A mutType missense AIREbase_D0003:g.9823G>C protEffect R303P AIREbase_D0003:g.9823G>C mutType missense AIREbase_D0003:g.11861delC protEffect P422X479 AIREbase_D0003:g.11861delC mutType frameshift AIREbase_D0003:g.12506delinsAC protEffect A432X503 AIREbase_D0003:g.12506delinsAC mutType frameshift AIREbase_D0003:g.9884_9885insCCTG protEffect S324X372 AIREbase_D0003:g.9884_9885insCCTG mutType frameshift AIREbase_D0003:g.11074_11075dupCCCGG protEffect P357X379 AIREbase_D0003:g.11074_11075dupCCCGG mutType frameshift AIREbase_D0003:g.15091delG protEffect A505X520 AIREbase_D0003:g.15091delG mutType frameshift AIREbase_D0003:g.11700_11701insC protEffect P368X371 AIREbase_D0003:g.11700_11701insC mutType frameshift AIREbase_D0003:g.12504_12505insAC protEffect A432X480 AIREbase_D0003:g.12504_12505insAC mutType frameshift AIREbase_D0003:g.12554delinsTT protEffect H448X503 AIREbase_D0003:g.12554delinsTT mutType frameshift AIREbase_D0003:g.16404C>T protEffect P539L AIREbase_D0003:g.16404C>T mutType missense AP3B1base_D0103:g.28101_28104delAGAG protEffect L51X62 AP3B1base_D0103:g.28101_28104delAGAG mutType frameshift AP3B1base_D0103:g.114127A>T protEffect R302X AP3B1base_D0103:g.114127A>T mutType nonsense AP3B1base_D0103:g.119856_119857delinsTATCAATATC protEffect Q355X360 AP3B1base_D0103:g.119856_119857delinsTATCAATATC mutType frameshift AP3B1base_D0103:g.166503dupA protEffect I597X608 AP3B1base_D0103:g.166503dupA mutType frameshift AP3B1base_D0103:g.147279_155450del mutType inframe BIRC4base_D0120:g.26757delC protEffect L98X129 BIRC4base_D0120:g.26757delC mutType frameshift BIRC4base_D0120:g.26775C>T protEffect Q104X BIRC4base_D0120:g.26775C>T mutType nonsense BIRC4base_D0120:g.26817G>T protEffect E118X BIRC4base_D0120:g.26817G>T mutType nonsense BIRC4base_D0120:g.27028G>A protEffect G188E BIRC4base_D0120:g.27028G>A mutType missense BIRC4base_D0120:g.27333dupT protEffect Y290X294 BIRC4base_D0120:g.27333dupT mutType frameshift BIRC4base_D0120:g.32060C>T protEffect Q333X BIRC4base_D0120:g.32060C>T mutType nonsense BIRC4base_D0120:g.32082A>G protEffect N340S BIRC4base_D0120:g.32082A>G mutType missense BIRC4base_D0120:g.47898A>T protEffect T470S BIRC4base_D0120:g.47898A>T mutType missense BIRC4base_D0120:g.47935C>G protEffect P482R BIRC4base_D0120:g.47935C>G mutType missense BIRC4base_D0120:g.47971T>A protEffect I494N BIRC4base_D0120:g.47971T>A mutType missense BLMbase_D0004:g.33139delA protEffect N92X128 BLMbase_D0004:g.33139delA mutType frameshift BLMbase_D0004:g.33175C>A protEffect S104X BLMbase_D0004:g.33175C>A mutType nonsense BLMbase_D0004:g.77907G>C protEffect C1055S BLMbase_D0004:g.77907G>C mutType missense BLMbase_D0004:g.33421_33423delCAA protEffect 186_187delinsX BLMbase_D0004:g.33421_33423delCAA mutType inframe BLMbase_D0004:g.44513dupA protEffect N515X516 BLMbase_D0004:g.44513dupA mutType frameshift BLMbase_D0004:g.33445_33446delTT protEffect F194X BLMbase_D0004:g.33445_33446delTT mutType nonsense BLMbase_D0004:g.33445dupT protEffect F194X195 BLMbase_D0004:g.33445dupT mutType frameshift BLMbase_D0004:g.33636_33637delCT protEffect L258X264 BLMbase_D0004:g.33636_33637delCT mutType frameshift BLMbase_D0004:g.35397A>T protEffect K272X BLMbase_D0004:g.35397A>T mutType nonsense BLMbase_D0004:g.38438_38442delAAAGA protEffect K331X334 BLMbase_D0004:g.38438_38442delAAAGA mutType frameshift BLMbase_D0004:g.77771delG protEffect D1010X1033 BLMbase_D0004:g.77771delG mutType frameshift BLMbase_D0004:g.44611C>T protEffect Q548X BLMbase_D0004:g.44611C>T mutType nonsense BLMbase_D0004:g.44670G>A protEffect W567X BLMbase_D0004:g.44670G>A mutType nonsense BLMbase_D0004:g.43745A>T protEffect R364X BLMbase_D0004:g.43745A>T mutType nonsense BLMbase_D0004:g.46612C>T protEffect Q645X BLMbase_D0004:g.46612C>T mutType nonsense BLMbase_D0004:g.44253G>A protEffect W428X BLMbase_D0004:g.44253G>A mutType nonsense BLMbase_D0004:g.44315delC protEffect S449X450 BLMbase_D0004:g.44315delC mutType frameshift BLMbase_D0004:g.44597T>A protEffect L543X BLMbase_D0004:g.44597T>A mutType nonsense BLMbase_D0004:g.44753C>A protEffect S595X BLMbase_D0004:g.44753C>A mutType nonsense BLMbase_D0004:g.50562_50563insAAAT protEffect L751X775 BLMbase_D0004:g.50562_50563insAAAT mutType frameshift BLMbase_D0004:g.68579C>T protEffect Q909X BLMbase_D0004:g.68579C>T mutType nonsense BLMbase_D0004:g.81798dupA protEffect R1075X1079 BLMbase_D0004:g.81798dupA mutType frameshift BLMbase_D0004:g.48915C>T protEffect Q700X BLMbase_D0004:g.48915C>T mutType nonsense BLMbase_D0004:g.74344delC protEffect Q975X998 BLMbase_D0004:g.74344delC mutType frameshift BLMbase_D0004:g.81836delT protEffect 1087_1087delins11 BLMbase_D0004:g.81836delT mutType frameshift BLMbase_D0004:g.68549C>T protEffect R899X BLMbase_D0004:g.68549C>T mutType nonsense BLMbase_D0004:g.46647dupG protEffect K657X661 BLMbase_D0004:g.46647dupG mutType frameshift BLMbase_D0004:g.46694A>G protEffect Q672R BLMbase_D0004:g.46694A>G mutType missense BLMbase_D0004:g.77934A>T protEffect D1064V BLMbase_D0004:g.77934A>T mutType missense BLMbase_D0004:g.87233_87234delTT protEffect L1159X1164 BLMbase_D0004:g.87233_87234delTT mutType frameshift BLMbase_D0004:g.50519_50524delinsTAGATTC protEffect Y736X740 BLMbase_D0004:g.50519_50524delinsTAGATTC mutType frameshift BLMbase_D0004:g.77902delT protEffect D1053X1077 BLMbase_D0004:g.77902delT mutType frameshift BLMbase_D0004:g.68526G>A protEffect G891E BLMbase_D0004:g.68526G>A mutType missense BLMbase_D0004:g.53034dupT protEffect W803X806 BLMbase_D0004:g.53034dupT mutType frameshift BLMbase_D0004:g.87268T>A protEffect Y1170X BLMbase_D0004:g.87268T>A mutType nonsense BLMbase_D0004:g.53133_53134delAG protEffect R836X853 BLMbase_D0004:g.53133_53134delAG mutType frameshift BLMbase_D0004:g.77940G>A protEffect C1066Y BLMbase_D0004:g.77940G>A mutType missense BLMbase_D0004:g.53115dupA protEffect T830X834 BLMbase_D0004:g.53115dupA mutType frameshift BLMbase_D0004:g.87885delA protEffect K1227X1278 BLMbase_D0004:g.87885delA mutType frameshift BLMbase_D0004:g.66505G>A protEffect W881X BLMbase_D0004:g.66505G>A mutType nonsense BLMbase_D0004:g.87173C>T protEffect R1139X BLMbase_D0004:g.87173C>T mutType nonsense BLMbase_D0004:g.68556G>A protEffect C901Y BLMbase_D0004:g.68556G>A mutType missense BLMbase_D0004:g.68675C>T protEffect Q941X BLMbase_D0004:g.68675C>T mutType nonsense BLMbase_D0004:g.77850G>T protEffect C1036F BLMbase_D0004:g.77850G>T mutType missense BLMbase_D0004:g.74276G>T protEffect G952V BLMbase_D0004:g.74276G>T mutType missense BLMbase_D0004:g.74308C>T protEffect H963Y BLMbase_D0004:g.74308C>T mutType missense BLMbase_D0004:g.77861C>T protEffect Q1040X BLMbase_D0004:g.77861C>T mutType nonsense BLMbase_D0004:g.81830_81831insT protEffect R1086X BLMbase_D0004:g.81830_81831insT mutType nonsense BLMbase_D0004:g.81853C>G protEffect S1093X BLMbase_D0004:g.81853C>G mutType nonsense BLMbase_D0004:g.87791delG protEffect S1196X1198 BLMbase_D0004:g.87791delG mutType frameshift BLMbase_D0004:g.87931dupA protEffect T1243X1256 BLMbase_D0004:g.87931dupA mutType frameshift BLMbase_D0004:g.92828C>T protEffect Q1283X BLMbase_D0004:g.92828C>T mutType nonsense BTKbase_U78027.1:g.46199G>T protEffect M1I BTKbase_U78027.1:g.46199G>T mutType initiation BTKbase_U78027.1:g.46198T>C protEffect M1T BTKbase_U78027.1:g.46198T>C mutType initiation_codon BTKbase_U78027.1:g.46197A>G protEffect M1V BTKbase_U78027.1:g.46197A>G mutType initiation_codon BTKbase_U78027.1:g.46167_46945del protEffect M1_P80del BTKbase_U78027.1:g.46167_46945del mutType inframe_deletion BTKbase_U78027.1:g.46211_46223del protEffect I5X7 BTKbase_U78027.1:g.46211_46223del mutType frameshift BTKbase_U78027.1:g.46208dupG protEffect I5X41 BTKbase_U78027.1:g.46208dupG mutType frameshift BTKbase_U78027.1:g.46210_46235del protEffect L6X32 BTKbase_U78027.1:g.46210_46235del mutType frameshift BTKbase_U78027.1:g.46225T>A protEffect F10Y BTKbase_U78027.1:g.46225T>A mutType missense BTKbase_U78027.1:g.46228T>C protEffect L11P BTKbase_U78027.1:g.46228T>C mutType missense BTKbase_U78027.1:g.46226dupT protEffect 11_11delins31 BTKbase_U78027.1:g.46226dupT mutType frameshift BTKbase_U78027.1:g.46231A>G protEffect K12R BTKbase_U78027.1:g.46231A>G mutType missense BTKbase_U78027.1:g.46233C>T protEffect R13X BTKbase_U78027.1:g.46233C>T mutType nonsense BTKbase_U78027.1:g.46237C>T protEffect S14F BTKbase_U78027.1:g.46237C>T mutType missense BTKbase_U78027.1:g.46237C>A protEffect S14Y BTKbase_U78027.1:g.46237C>A mutType missense BTKbase_U78027.1:g.46237_46239delCCC protEffect 14_15delinsX BTKbase_U78027.1:g.46237_46239delCCC mutType inframe BTKbase_U78027.1:g.46239C>T protEffect Q15X BTKbase_U78027.1:g.46239C>T mutType nonsense BTKbase_U78027.1:g.46241delA protEffect Q15X23 BTKbase_U78027.1:g.46241delA mutType frameshift BTKbase_U78027.1:g.46245A>G protEffect K17E BTKbase_U78027.1:g.46245A>G mutType missense BTKbase_U78027.1:g.46251A>G protEffect K19E BTKbase_U78027.1:g.46251A>G mutType missense BTKbase_U78027.1:g.46251A>T protEffect K19X BTKbase_U78027.1:g.46251A>T mutType nonsense BTKbase_U78027.1:g.46258C>A protEffect S21X BTKbase_U78027.1:g.46258C>A mutType nonsense BTKbase_U78027.1:g.46259delA protEffect S21X23 BTKbase_U78027.1:g.46259delA mutType frameshift BTKbase_U78027.1:g.46270T>C protEffect F25S BTKbase_U78027.1:g.46270T>C mutType missense BTKbase_U78027.1:g.46276A>G protEffect K27R BTKbase_U78027.1:g.46276A>G mutType missense BTKbase_U78027.1:g.46910C>T protEffect P69S BTKbase_U78027.1:g.46910C>T mutType missense BTKbase_U78027.1:g.60726A>G protEffect K199E BTKbase_U78027.1:g.60726A>G mutType missense BTKbase_U78027.1:g.60733C>T protEffect P201L BTKbase_U78027.1:g.60733C>T mutType missense BTKbase_U78027.1:g.60788T>C protEffect V219V BTKbase_U78027.1:g.60788T>C mutType silent BTKbase_U78027.1:g.46278C>T protEffect R28C BTKbase_U78027.1:g.46278C>T mutType missense BTKbase_U78027.1:g.46280C>T protEffect R28C BTKbase_U78027.1:g.46280C>T mutType missense BTKbase_U78027.1:g.46279G>A protEffect R28H BTKbase_U78027.1:g.46279G>A mutType missense BTKbase_U78027.1:g.46279G>T protEffect R28L BTKbase_U78027.1:g.46279G>T mutType missense BTKbase_U78027.1:g.46279G>C protEffect R28P BTKbase_U78027.1:g.46279G>C mutType missense BTKbase_U78027.1:g.46278C>A protEffect R28S BTKbase_U78027.1:g.46278C>A mutType missense BTKbase_U78027.1:g.46283_46295del protEffect L29X52 BTKbase_U78027.1:g.46283_46295del mutType frameshift BTKbase_U78027.1:g.46288T>C protEffect L31P BTKbase_U78027.1:g.46288T>C mutType missense BTKbase_U78027.1:g.46291T>C protEffect L32S BTKbase_U78027.1:g.46291T>C mutType missense BTKbase_U78027.1:g.46291T>G protEffect L32W BTKbase_U78027.1:g.46291T>G mutType missense BTKbase_U78027.1:g.46294C>T protEffect T33I BTKbase_U78027.1:g.46294C>T mutType missense BTKbase_U78027.1:g.46293A>C protEffect T33P BTKbase_U78027.1:g.46293A>C mutType missense BTKbase_U78027.1:g.46306T>C protEffect L37P BTKbase_U78027.1:g.46306T>C mutType missense BTKbase_U78027.1:g.46305_46306delCT protEffect S38X40 BTKbase_U78027.1:g.46305_46306delCT mutType frameshift BTKbase_U78027.1:g.46312A>G protEffect Y39C BTKbase_U78027.1:g.46312A>G mutType missense BTKbase_U78027.1:g.46311T>A protEffect Y39N BTKbase_U78027.1:g.46311T>A mutType missense BTKbase_U78027.1:g.46312A>C protEffect Y39S BTKbase_U78027.1:g.46312A>C mutType missense BTKbase_U78027.1:g.46313C>A protEffect Y39X BTKbase_U78027.1:g.46313C>A mutType nonsense BTKbase_U78027.1:g.46315A>G protEffect Y40C BTKbase_U78027.1:g.46315A>G mutType missense BTKbase_U78027.1:g.46314T>A protEffect Y40N BTKbase_U78027.1:g.46314T>A mutType missense BTKbase_U78027.1:g.46315_46337del protEffect 40_47delinsX BTKbase_U78027.1:g.46315_46337del mutType nonsense BTKbase_U78027.1:g.46314_46315delTA protEffect Y40X BTKbase_U78027.1:g.46314_46315delTA mutType nonsense BTKbase_U78027.1:g.46322delT protEffect Y42X BTKbase_U78027.1:g.46322delT mutType nonsense BTKbase_U78027.1:g.46322_46323insA protEffect D43X45 BTKbase_U78027.1:g.46322_46323insA mutType frameshift BTKbase_U78027.1:g.46333_46335delinsTT protEffect 46_46delins11 BTKbase_U78027.1:g.46333_46335delinsTT mutType frameshift BTKbase_U78027.1:g.46335delG protEffect G47X56 BTKbase_U78027.1:g.46335delG mutType frameshift BTKbase_U78027.1:g.46337delG protEffect G47X56 BTKbase_U78027.1:g.46337delG mutType frameshift BTKbase_U78027.1:g.46847_46852delAGAAGA protEffect R48_R49del BTKbase_U78027.1:g.46847_46852delAGAAGA mutType inframe BTKbase_U78027.1:g.46847_46851delAGAAG protEffect R48X50 BTKbase_U78027.1:g.46847_46851delAGAAG mutType frameshift BTKbase_U78027.1:g.46847_46848delAG protEffect R48X51 BTKbase_U78027.1:g.46847_46848delAG mutType frameshift BTKbase_U78027.1:g.46861delG protEffect K52X56 BTKbase_U78027.1:g.46861delG mutType frameshift BTKbase_U78027.1:g.46858dupT protEffect K52X BTKbase_U78027.1:g.46858dupT mutType nonsense BTKbase_U78027.1:g.46864delG protEffect K53X56 BTKbase_U78027.1:g.46864delG mutType frameshift BTKbase_U78027.1:g.60746G>T protEffect E205D BTKbase_U78027.1:g.60746G>T mutType missense BTKbase_U78027.1:g.46865delG protEffect G54X56 BTKbase_U78027.1:g.46865delG mutType frameshift BTKbase_U78027.1:g.46872T>C protEffect I56T BTKbase_U78027.1:g.46872T>C mutType missense BTKbase_U78027.1:g.46876_46877delTG protEffect D57X58 BTKbase_U78027.1:g.46876_46877delTG mutType frameshift BTKbase_U78027.1:g.46879dupT protEffect E59X BTKbase_U78027.1:g.46879dupT mutType nonsense BTKbase_U78027.1:g.46881_46883delAGA protEffect 59_60delinsE BTKbase_U78027.1:g.46881_46883delAGA mutType inframe_deletion BTKbase_U78027.1:g.46883_46885delAAG protEffect K60del BTKbase_U78027.1:g.46883_46885delAAG mutType inframe BTKbase_U78027.1:g.46887T>A protEffect I61N BTKbase_U78027.1:g.46887T>A mutType missense BTKbase_U78027.1:g.46887T>C protEffect I61T BTKbase_U78027.1:g.46887T>C mutType missense BTKbase_U78027.1:g.46889delA protEffect T62X120 BTKbase_U78027.1:g.46889delA mutType frameshift BTKbase_U78027.1:g.46896T>A protEffect V64D BTKbase_U78027.1:g.46896T>A mutType missense BTKbase_U78027.1:g.46895G>T protEffect V64F BTKbase_U78027.1:g.46895G>T mutType missense BTKbase_U78027.1:g.46903_46904delAG protEffect V67X69 BTKbase_U78027.1:g.46903_46904delAG mutType frameshift BTKbase_U78027.1:g.46920delA protEffect N72X120 BTKbase_U78027.1:g.46920delA mutType frameshift BTKbase_U78027.1:g.46919_46920delinsT protEffect N72X120 BTKbase_U78027.1:g.46919_46920delinsT mutType frameshift BTKbase_U78027.1:g.46920dupA protEffect N72X84 BTKbase_U78027.1:g.46920dupA mutType frameshift BTKbase_U78027.1:g.46931_46934delGAAA protEffect E76X119 BTKbase_U78027.1:g.46931_46934delGAAA mutType frameshift BTKbase_U78027.1:g.46937C>T protEffect Q78X BTKbase_U78027.1:g.46937C>T mutType nonsense BTKbase_U78027.1:g.49781_49785delAGAAG protEffect R81X82 BTKbase_U78027.1:g.49781_49785delAGAAG mutType frameshift BTKbase_U78027.1:g.49809delA protEffect 90_90delins31 BTKbase_U78027.1:g.49809delA mutType frameshift BTKbase_U78027.1:g.49809_49810dupAAATGGA protEffect E90X98 BTKbase_U78027.1:g.49809_49810dupAAATGGA mutType frameshift BTKbase_U78027.1:g.49811C>T protEffect Q91X BTKbase_U78027.1:g.49811C>T mutType nonsense BTKbase_U78027.1:g.49832T>G protEffect F98V BTKbase_U78027.1:g.49832T>G mutType missense BTKbase_U78027.1:g.49840T>G protEffect Y100X BTKbase_U78027.1:g.49840T>G mutType nonsense BTKbase_U78027.1:g.49848A>G protEffect Q103R BTKbase_U78027.1:g.49848A>G mutType missense BTKbase_U78027.1:g.51403_51404delGT protEffect V104X106 BTKbase_U78027.1:g.51403_51404delGT mutType frameshift BTKbase_U78027.1:g.51404delT protEffect V104X120 BTKbase_U78027.1:g.51404delT mutType frameshift BTKbase_U78027.1:g.51406delG protEffect V105X120 BTKbase_U78027.1:g.51406delG mutType frameshift BTKbase_U78027.1:g.51412delG mutType frameshift BTKbase_U78027.1:g.51425T>G protEffect L111R BTKbase_U78027.1:g.51425T>G mutType missense BTKbase_U78027.1:g.51427T>C protEffect Y112H BTKbase_U78027.1:g.51427T>C mutType missense BTKbase_U78027.1:g.51429C>A protEffect Y112X BTKbase_U78027.1:g.51429C>A mutType nonsense BTKbase_U78027.1:g.51429C>G protEffect Y112X BTKbase_U78027.1:g.51429C>G mutType nonsense BTKbase_U78027.1:g.51431T>A protEffect V113D BTKbase_U78027.1:g.51431T>A mutType missense BTKbase_U78027.1:g.51434_51436delTCT protEffect 114_115delinsS BTKbase_U78027.1:g.51434_51436delTCT mutType inframe_deletion BTKbase_U78027.1:g.51434_51435delinsGA protEffect F114X BTKbase_U78027.1:g.51434_51435delinsGA mutType nonsense BTKbase_U78027.1:g.51433_51440delTTCTCCCC protEffect F114X115 BTKbase_U78027.1:g.51433_51440delTTCTCCCC mutType frameshift BTKbase_U78027.1:g.51437C>T protEffect S115F BTKbase_U78027.1:g.51437C>T mutType missense BTKbase_U78027.1:g.51442A>C protEffect T117P BTKbase_U78027.1:g.51442A>C mutType missense BTKbase_U78027.1:g.51465G>T protEffect W124C BTKbase_U78027.1:g.51465G>T mutType missense BTKbase_U78027.1:g.51463T>C protEffect W124R BTKbase_U78027.1:g.51463T>C mutType missense BTKbase_U78027.1:g.51464G>A protEffect W124X BTKbase_U78027.1:g.51464G>A mutType nonsense BTKbase_U78027.1:g.51465G>A protEffect W124X BTKbase_U78027.1:g.51465G>A mutType nonsense BTKbase_U78027.1:g.51466_51467ins47 mutType frameshift BTKbase_U78027.1:g.51474G>C protEffect Q127H BTKbase_U78027.1:g.51474G>C mutType missense BTKbase_U78027.1:g.51478delA protEffect K129X131 BTKbase_U78027.1:g.51478delA mutType frameshift BTKbase_U78027.1:g.60894C>T protEffect R255X BTKbase_U78027.1:g.60894C>T mutType nonsense BTKbase_U78027.1:g.51481delA mutType frameshift BTKbase_U78027.1:g.58791delC protEffect R133X175 BTKbase_U78027.1:g.58791delC mutType frameshift BTKbase_U78027.1:g.58796C>A protEffect Y134X BTKbase_U78027.1:g.58796C>A mutType nonsense BTKbase_U78027.1:g.58796delC protEffect Y134X BTKbase_U78027.1:g.58796delC mutType frameshift BTKbase_U78027.1:g.58807_58808dupACAGTGATCT protEffect L138X140 BTKbase_U78027.1:g.58807_58808dupACAGTGATCT mutType frameshift BTKbase_U78027.1:g.58815A>T protEffect K141X BTKbase_U78027.1:g.58815A>T mutType nonsense BTKbase_U78027.1:g.58820T>A protEffect Y142X BTKbase_U78027.1:g.58820T>A mutType nonsense BTKbase_U78027.1:g.58820T>G protEffect Y142X BTKbase_U78027.1:g.58820T>G mutType nonsense BTKbase_U78027.1:g.58825delC protEffect P144X175 BTKbase_U78027.1:g.58825delC mutType frameshift BTKbase_U78027.1:g.58829C>A protEffect C145X BTKbase_U78027.1:g.58829C>A mutType nonsense BTKbase_U78027.1:g.58835G>A protEffect W147X BTKbase_U78027.1:g.58835G>A mutType nonsense BTKbase_U78027.1:g.58836_58839delATCG protEffect W147X173 BTKbase_U78027.1:g.58836_58839delATCG mutType frameshift BTKbase_U78027.1:g.58844dupG protEffect Q151X193 BTKbase_U78027.1:g.58844dupG mutType frameshift BTKbase_U78027.1:g.58849A>G protEffect Y152C BTKbase_U78027.1:g.58849A>G mutType missense BTKbase_U78027.1:g.58854T>G protEffect C154G BTKbase_U78027.1:g.58854T>G mutType missense BTKbase_U78027.1:g.58855G>C protEffect C154S BTKbase_U78027.1:g.58855G>C mutType missense BTKbase_U78027.1:g.58855G>A protEffect C154Y BTKbase_U78027.1:g.58855G>A mutType missense BTKbase_U78027.1:g.58857T>G protEffect C155G BTKbase_U78027.1:g.58857T>G mutType missense BTKbase_U78027.1:g.58857T>C protEffect C155R BTKbase_U78027.1:g.58857T>C mutType missense BTKbase_U78027.1:g.58858G>A protEffect C155Y BTKbase_U78027.1:g.58858G>A mutType missense BTKbase_U78027.1:g.58865_58881delinsTGGTC protEffect 157_163delinsHGL BTKbase_U78027.1:g.58865_58881delinsTGGTC mutType inframe BTKbase_U78027.1:g.58864dupA protEffect Q157X193 BTKbase_U78027.1:g.58864dupA mutType frameshift BTKbase_U78027.1:g.58866_58869delACAG protEffect T158X174 BTKbase_U78027.1:g.58866_58869delACAG mutType frameshift BTKbase_U78027.1:g.58871_58872insT protEffect K160X BTKbase_U78027.1:g.58871_58872insT mutType nonsense BTKbase_U78027.1:g.58876dupA protEffect N161X193 BTKbase_U78027.1:g.58876dupA mutType frameshift BTKbase_U78027.1:g.58888G>A protEffect C165Y BTKbase_U78027.1:g.58888G>A mutType missense BTKbase_U78027.1:g.58890C>T protEffect Q166X BTKbase_U78027.1:g.58890C>T mutType nonsense BTKbase_U78027.1:g.58904_58905insG protEffect R171X193 BTKbase_U78027.1:g.58904_58905insG mutType frameshift BTKbase_U78027.1:g.58906_58910delGGAAT protEffect N172X191 BTKbase_U78027.1:g.58906_58910delGGAAT mutType frameshift BTKbase_U78027.1:g.58907dupG protEffect N172X193 BTKbase_U78027.1:g.58907dupG mutType frameshift BTKbase_U78027.1:g.59238dupT protEffect L175X193 BTKbase_U78027.1:g.59238dupT mutType frameshift BTKbase_U78027.1:g.59260delG protEffect R182X198 BTKbase_U78027.1:g.59260delG mutType frameshift BTKbase_U78027.1:g.59264A>C mutType missense BTKbase_U78027.1:g.59271_59272delinsC protEffect T184P BTKbase_U78027.1:g.59271_59272delinsC mutType frameshift BTKbase_U78027.1:g.59266delA protEffect T184X198 BTKbase_U78027.1:g.59266delA mutType frameshift BTKbase_U78027.1:g.59271_59272delinsT protEffect K186X198 BTKbase_U78027.1:g.59271_59272delinsT mutType frameshift BTKbase_U78027.1:g.59271dupA protEffect K186X193 BTKbase_U78027.1:g.59271dupA mutType frameshift BTKbase_U78027.1:g.59275_59278delTCTT protEffect P187X197 BTKbase_U78027.1:g.59275_59278delTCTT mutType frameshift BTKbase_U78027.1:g.59279delC protEffect P189X198 BTKbase_U78027.1:g.59279delC mutType frameshift BTKbase_U78027.1:g.59291G>T protEffect E193X BTKbase_U78027.1:g.59291G>T mutType nonsense BTKbase_U78027.1:g.59302G>C protEffect Q196H BTKbase_U78027.1:g.59302G>C mutType missense BTKbase_U78027.1:g.59300C>T protEffect Q196X BTKbase_U78027.1:g.59300C>T mutType nonsense BTKbase_U78027.1:g.60719_60720dupCTACATAG protEffect I197X201 BTKbase_U78027.1:g.60719_60720dupCTACATAG mutType frameshift BTKbase_U78027.1:g.60719_60720insATACATAG protEffect I197X201 BTKbase_U78027.1:g.60719_60720insATACATAG mutType frameshift BTKbase_U78027.1:g.60739delC protEffect P203X216 BTKbase_U78027.1:g.60739delC mutType frameshift BTKbase_U78027.1:g.60739_60741delinsTGGTG protEffect P203X217 BTKbase_U78027.1:g.60739_60741delinsTGGTG mutType frameshift BTKbase_U78027.1:g.60743_60744delTG protEffect 204_205delins11 BTKbase_U78027.1:g.60743_60744delTG mutType frameshift BTKbase_U78027.1:g.60773_60776delTGAG protEffect S214X215 BTKbase_U78027.1:g.60773_60776delTGAG mutType frameshift BTKbase_U78027.1:g.60751delC protEffect A207X216 BTKbase_U78027.1:g.60751delC mutType frameshift BTKbase_U78027.1:g.60772delG protEffect S214X216 BTKbase_U78027.1:g.60772delG mutType frameshift BTKbase_U78027.1:g.60773_60774delTG protEffect S214X223 BTKbase_U78027.1:g.60773_60774delTG mutType frameshift BTKbase_U78027.1:g.60772_60907del protEffect S214X231 BTKbase_U78027.1:g.60772_60907del mutType frameshift BTKbase_U78027.1:g.60783delA protEffect K218X228 BTKbase_U78027.1:g.60783delA mutType frameshift BTKbase_U78027.1:g.60784delA protEffect 218_218delins11 BTKbase_U78027.1:g.60784delA mutType frameshift BTKbase_U78027.1:g.60786delG protEffect V219X228 BTKbase_U78027.1:g.60786delG mutType frameshift BTKbase_U78027.1:g.60787_60792delinsCC protEffect V219X227 BTKbase_U78027.1:g.60787_60792delinsCC mutType frameshift BTKbase_U78027.1:g.60800T>G protEffect Y223X BTKbase_U78027.1:g.60800T>G mutType nonsense BTKbase_U78027.1:g.60802delA protEffect D224X228 BTKbase_U78027.1:g.60802delA mutType frameshift BTKbase_U78027.1:g.60813delinsGT protEffect M228X232 BTKbase_U78027.1:g.60813delinsGT mutType frameshift BTKbase_U78027.1:g.60816_60825del protEffect N229X273 BTKbase_U78027.1:g.60816_60825del mutType frameshift BTKbase_U78027.1:g.60816_60817insTTAC protEffect N229X233 BTKbase_U78027.1:g.60816_60817insTTAC mutType frameshift BTKbase_U78027.1:g.60831C>T protEffect Q234X BTKbase_U78027.1:g.60831C>T mutType nonsense BTKbase_U78027.1:g.60841_60844delAGGG protEffect K237X275 BTKbase_U78027.1:g.60841_60844delAGGG mutType frameshift BTKbase_U78027.1:g.60845delT protEffect G238X276 BTKbase_U78027.1:g.60845delT mutType frameshift BTKbase_U78027.1:g.60846delG protEffect D239X276 BTKbase_U78027.1:g.60846delG mutType frameshift BTKbase_U78027.1:g.60849G>T protEffect E240X BTKbase_U78027.1:g.60849G>T mutType nonsense BTKbase_U78027.1:g.60857dupT protEffect I243X257 BTKbase_U78027.1:g.60857dupT mutType frameshift BTKbase_U78027.1:g.60861delT protEffect L244X276 BTKbase_U78027.1:g.60861delT mutType frameshift BTKbase_U78027.1:g.60862T>A protEffect L244X BTKbase_U78027.1:g.60862T>A mutType nonsense BTKbase_U78027.1:g.60870delA protEffect S247X276 BTKbase_U78027.1:g.60870delA mutType frameshift BTKbase_U78027.1:g.60871delG protEffect S247X276 BTKbase_U78027.1:g.60871delG mutType frameshift BTKbase_U78027.1:g.60877T>A protEffect L249X BTKbase_U78027.1:g.60877T>A mutType nonsense BTKbase_U78027.1:g.60884G>A protEffect W251X BTKbase_U78027.1:g.60884G>A mutType nonsense BTKbase_U78027.1:g.60886G>A protEffect W252X BTKbase_U78027.1:g.60886G>A mutType nonsense BTKbase_U78027.1:g.60887G>A protEffect W252X BTKbase_U78027.1:g.60887G>A mutType nonsense BTKbase_U78027.1:g.61326C>T protEffect Q260X BTKbase_U78027.1:g.61326C>T mutType nonsense BTKbase_U78027.1:g.61329delinsTTA protEffect E261X277 BTKbase_U78027.1:g.61329delinsTTA mutType frameshift BTKbase_U78027.1:g.61351delA protEffect Y268X276 BTKbase_U78027.1:g.61351delA mutType frameshift BTKbase_U78027.1:g.61357delC protEffect T270X276 BTKbase_U78027.1:g.61357delC mutType frameshift BTKbase_U78027.1:g.61365delG protEffect E273X276 BTKbase_U78027.1:g.61365delG mutType frameshift BTKbase_U78027.1:g.61377G>T protEffect E277X BTKbase_U78027.1:g.61377G>T mutType nonsense BTKbase_U78027.1:g.61386G>T protEffect E280X BTKbase_U78027.1:g.61386G>T mutType nonsense BTKbase_U78027.1:g.61386_61389delGAGT protEffect E280X285 BTKbase_U78027.1:g.61386_61389delGAGT mutType frameshift BTKbase_U78027.1:g.62131G>A protEffect W281X BTKbase_U78027.1:g.62131G>A mutType nonsense BTKbase_U78027.1:g.62142delA protEffect H285X286 BTKbase_U78027.1:g.62142delA mutType frameshift BTKbase_U78027.1:g.62144_62145delAT protEffect M286X291 BTKbase_U78027.1:g.62144_62145delAT mutType frameshift BTKbase_U78027.1:g.62151G>A protEffect R288Q BTKbase_U78027.1:g.62151G>A mutType missense BTKbase_U78027.1:g.62150C>T protEffect R288W BTKbase_U78027.1:g.62150C>T mutType missense BTKbase_U78027.1:g.62150_62153delCGGA protEffect R288X294 BTKbase_U78027.1:g.62150_62153delCGGA mutType frameshift BTKbase_U78027.1:g.62165C>T protEffect Q293X BTKbase_U78027.1:g.62165C>T mutType nonsense BTKbase_U78027.1:g.62169T>C protEffect L294P BTKbase_U78027.1:g.62169T>C mutType missense BTKbase_U78027.1:g.62172T>C protEffect L295P BTKbase_U78027.1:g.62172T>C mutType missense BTKbase_U78027.1:g.62173delA protEffect L295X330 BTKbase_U78027.1:g.62173delA mutType frameshift BTKbase_U78027.1:g.62177C>T protEffect Q297X BTKbase_U78027.1:g.62177C>T mutType nonsense BTKbase_U78027.1:g.62779_62858del protEffect G299X321 BTKbase_U78027.1:g.62779_62858del mutType frameshift BTKbase_U78027.1:g.62785_62787delGAA protEffect E301del BTKbase_U78027.1:g.62785_62787delGAA mutType inframe BTKbase_U78027.1:g.62789G>A protEffect G302E BTKbase_U78027.1:g.62789G>A mutType missense BTKbase_U78027.1:g.62788G>A protEffect G302R BTKbase_U78027.1:g.62788G>A mutType missense BTKbase_U78027.1:g.62787_62789delAGG protEffect G302del BTKbase_U78027.1:g.62787_62789delAGG mutType inframe_deletion BTKbase_U78027.1:g.62790_62792delAGG protEffect 302_303delinsG BTKbase_U78027.1:g.62790_62792delAGG mutType inframe BTKbase_U78027.1:g.62800_62801delGT protEffect V306X321 BTKbase_U78027.1:g.62800_62801delGT mutType frameshift BTKbase_U78027.1:g.62803A>G protEffect R307G BTKbase_U78027.1:g.62803A>G mutType missense BTKbase_U78027.1:g.62804G>A protEffect R307K BTKbase_U78027.1:g.62804G>A mutType missense BTKbase_U78027.1:g.62805A>G protEffect R307R BTKbase_U78027.1:g.62805A>G mutType missense BTKbase_U78027.1:g.62804G>C protEffect R307T BTKbase_U78027.1:g.62804G>C mutType missense BTKbase_U78027.1:g.62808C>G protEffect D308E BTKbase_U78027.1:g.62808C>G mutType missense BTKbase_U78027.1:g.62806_62807delGA protEffect D308X321 BTKbase_U78027.1:g.62806_62807delGA mutType frameshift BTKbase_U78027.1:g.62821delG protEffect G313X330 BTKbase_U78027.1:g.62821delG mutType frameshift BTKbase_U78027.1:g.62826A>G protEffect G313X318 BTKbase_U78027.1:g.62826A>G mutType loss BTKbase_U78027.1:g.62826delA protEffect K314X330 BTKbase_U78027.1:g.62826delA mutType frameshift BTKbase_U78027.1:g.62829T>G protEffect Y315X BTKbase_U78027.1:g.62829T>G mutType nonsense BTKbase_U78027.1:g.62830A>G protEffect T316A BTKbase_U78027.1:g.62830A>G mutType missense BTKbase_U78027.1:g.62831_62832delCA protEffect T316X321 BTKbase_U78027.1:g.62831_62832delCA mutType frameshift BTKbase_U78027.1:g.62834T>G protEffect V317G BTKbase_U78027.1:g.62834T>G mutType missense BTKbase_U78027.1:g.62837C>T protEffect S318F BTKbase_U78027.1:g.62837C>T mutType missense BTKbase_U78027.1:g.62836T>C protEffect S318P BTKbase_U78027.1:g.62836T>C mutType missense BTKbase_U78027.1:g.62836_62837delTC protEffect S318X321 BTKbase_U78027.1:g.62836_62837delTC mutType frameshift BTKbase_U78027.1:g.62840T>C protEffect V319A BTKbase_U78027.1:g.62840T>C mutType missense BTKbase_U78027.1:g.62841_62842delGT protEffect V319X321 BTKbase_U78027.1:g.62841_62842delGT mutType frameshift BTKbase_U78027.1:g.63038_63165del protEffect 325_368delins31 BTKbase_U78027.1:g.63038_63165del mutType frameshift BTKbase_U78027.1:g.63039delG protEffect D326X330 BTKbase_U78027.1:g.63039delG mutType frameshift BTKbase_U78027.1:g.63040_63052del protEffect D326X398 BTKbase_U78027.1:g.63040_63052del mutType frameshift BTKbase_U78027.1:g.63045C>T protEffect Q328X BTKbase_U78027.1:g.63045C>T mutType nonsense BTKbase_U78027.1:g.63058_63065delGTCATTAT protEffect R332X345 BTKbase_U78027.1:g.63058_63065delGTCATTAT mutType frameshift BTKbase_U78027.1:g.63060C>T protEffect H333Y BTKbase_U78027.1:g.63060C>T mutType missense BTKbase_U78027.1:g.63064A>C protEffect Y334S BTKbase_U78027.1:g.63064A>C mutType missense BTKbase_U78027.1:g.63072T>G protEffect C337G BTKbase_U78027.1:g.63072T>G mutType missense BTKbase_U78027.1:g.63074T>A protEffect C337X BTKbase_U78027.1:g.63074T>A mutType nonsense BTKbase_U78027.1:g.63080_63081dupCACA protEffect P340X349 BTKbase_U78027.1:g.63080_63081dupCACA mutType frameshift BTKbase_U78027.1:g.63090C>T protEffect Q343X BTKbase_U78027.1:g.63090C>T mutType nonsense BTKbase_U78027.1:g.63100T>C protEffect L346P BTKbase_U78027.1:g.63100T>C mutType missense BTKbase_U78027.1:g.63100T>G protEffect L346R BTKbase_U78027.1:g.63100T>G mutType missense BTKbase_U78027.1:g.63102G>C protEffect A347P BTKbase_U78027.1:g.63102G>C mutType missense BTKbase_U78027.1:g.63105G>T protEffect E348X BTKbase_U78027.1:g.63105G>T mutType nonsense BTKbase_U78027.1:g.63107dupG protEffect K349X357 BTKbase_U78027.1:g.63107dupG mutType frameshift BTKbase_U78027.1:g.63127T>A protEffect I355N BTKbase_U78027.1:g.63127T>A mutType missense BTKbase_U78027.1:g.63135C>T protEffect L358F BTKbase_U78027.1:g.63135C>T mutType missense BTKbase_U78027.1:g.63142delA protEffect N360X402 BTKbase_U78027.1:g.63142delA mutType frameshift BTKbase_U78027.1:g.63145A>G protEffect Y361C BTKbase_U78027.1:g.63145A>G mutType missense BTKbase_U78027.1:g.63144T>G protEffect Y361D BTKbase_U78027.1:g.63144T>G mutType missense BTKbase_U78027.1:g.63146C>A protEffect Y361X BTKbase_U78027.1:g.63146C>A mutType nonsense BTKbase_U78027.1:g.63144_63146delTAC protEffect Y361del BTKbase_U78027.1:g.63144_63146delTAC mutType inframe BTKbase_U78027.1:g.63149T>G protEffect H362Q BTKbase_U78027.1:g.63149T>G mutType missense BTKbase_U78027.1:g.63148A>G protEffect H362R BTKbase_U78027.1:g.63148A>G mutType missense BTKbase_U78027.1:g.63150C>T protEffect Q363X BTKbase_U78027.1:g.63150C>T mutType nonsense BTKbase_U78027.1:g.63151dupA protEffect Q363X398 BTKbase_U78027.1:g.63151dupA mutType frameshift BTKbase_U78027.1:g.63153C>G protEffect H364D BTKbase_U78027.1:g.63153C>G mutType missense BTKbase_U78027.1:g.63154A>C protEffect H364P BTKbase_U78027.1:g.63154A>C mutType missense BTKbase_U78027.1:g.63156A>T protEffect N365Y BTKbase_U78027.1:g.63156A>T mutType missense BTKbase_U78027.1:g.63163C>A protEffect A367E BTKbase_U78027.1:g.63163C>A mutType missense BTKbase_U78027.1:g.63165G>T protEffect G368X BTKbase_U78027.1:g.63165G>T mutType nonsense BTKbase_U78027.1:g.63892_63904del protEffect 368_372delins31 BTKbase_U78027.1:g.63892_63904del mutType frameshift BTKbase_U78027.1:g.63894C>T protEffect L369F BTKbase_U78027.1:g.63894C>T mutType missense BTKbase_U78027.1:g.63895_63896delTC protEffect L369X397 BTKbase_U78027.1:g.63895_63896delTC mutType frameshift BTKbase_U78027.1:g.63899A>G protEffect I370M BTKbase_U78027.1:g.63899A>G mutType missense BTKbase_U78027.1:g.63900T>C protEffect S371P BTKbase_U78027.1:g.63900T>C mutType missense BTKbase_U78027.1:g.63903A>G protEffect R372G BTKbase_U78027.1:g.63903A>G mutType missense BTKbase_U78027.1:g.63911A>C protEffect K374N BTKbase_U78027.1:g.63911A>C mutType missense BTKbase_U78027.1:g.63914T>G protEffect Y375X BTKbase_U78027.1:g.63914T>G mutType nonsense BTKbase_U78027.1:g.63920_63921dup protEffect S378X403 BTKbase_U78027.1:g.63920_63921dup mutType frameshift BTKbase_U78027.1:g.63924C>T protEffect Q379X BTKbase_U78027.1:g.63924C>T mutType nonsense BTKbase_U78027.1:g.63927C>T protEffect Q380X BTKbase_U78027.1:g.63927C>T mutType nonsense BTKbase_U78027.1:g.63934_63936delinsTT protEffect 382_382delins21 BTKbase_U78027.1:g.63934_63936delinsTT mutType frameshift BTKbase_U78027.1:g.63942delC protEffect P385X402 BTKbase_U78027.1:g.63942delC mutType frameshift BTKbase_U78027.1:g.63945_63949delTCCAC protEffect 386_387delins11 BTKbase_U78027.1:g.63945_63949delTCCAC mutType frameshift BTKbase_U78027.1:g.63955dupG protEffect G389X398 BTKbase_U78027.1:g.63955dupG mutType frameshift BTKbase_U78027.1:g.63962A>G protEffect G391G BTKbase_U78027.1:g.63962A>G mutType silent BTKbase_U78027.1:g.63960G>T protEffect G391X BTKbase_U78027.1:g.63960G>T mutType nonsense BTKbase_U78027.1:g.63965C>A protEffect Y392X BTKbase_U78027.1:g.63965C>A mutType nonsense BTKbase_U78027.1:g.63964dupA protEffect Y392X BTKbase_U78027.1:g.63964dupA mutType nonsense BTKbase_U78027.1:g.64526G>A protEffect W395X BTKbase_U78027.1:g.64526G>A mutType nonsense BTKbase_U78027.1:g.64541delA protEffect K400X402 BTKbase_U78027.1:g.64541delA mutType frameshift BTKbase_U78027.1:g.64545_64548delCCTG protEffect D401X404 BTKbase_U78027.1:g.64545_64548delCCTG mutType frameshift BTKbase_U78027.1:g.64547T>C protEffect L402P BTKbase_U78027.1:g.64547T>C mutType missense BTKbase_U78027.1:g.64552_64554delTTC protEffect F404del BTKbase_U78027.1:g.64552_64554delTTC mutType inframe_deletion BTKbase_U78027.1:g.64561_64563delGAG protEffect E407del BTKbase_U78027.1:g.64561_64563delGAG mutType inframe BTKbase_U78027.1:g.64565T>C protEffect L408P BTKbase_U78027.1:g.64565T>C mutType missense BTKbase_U78027.1:g.64568_64569insA protEffect 409_409delins31 BTKbase_U78027.1:g.64568_64569insA mutType frameshift BTKbase_U78027.1:g.64569dupG protEffect T410X439 BTKbase_U78027.1:g.64569dupG mutType frameshift BTKbase_U78027.1:g.64582G>A protEffect G414R BTKbase_U78027.1:g.64582G>A mutType missense BTKbase_U78027.1:g.64594T>C protEffect Y418H BTKbase_U78027.1:g.64594T>C mutType missense BTKbase_U78027.1:g.64598G>A protEffect G419E BTKbase_U78027.1:g.64598G>A mutType missense BTKbase_U78027.1:g.64597G>A protEffect G419R BTKbase_U78027.1:g.64597G>A mutType missense BTKbase_U78027.1:g.64605G>A protEffect W421X BTKbase_U78027.1:g.64605G>A mutType nonsense BTKbase_U78027.1:g.64617C>A protEffect Y425X BTKbase_U78027.1:g.64617C>A mutType nonsense BTKbase_U78027.1:g.64620delC protEffect D426X431 BTKbase_U78027.1:g.64620delC mutType frameshift BTKbase_U78027.1:g.64628T>A protEffect I429N BTKbase_U78027.1:g.64628T>A mutType missense BTKbase_U78027.1:g.64630A>G protEffect K430E BTKbase_U78027.1:g.64630A>G mutType missense BTKbase_U78027.1:g.64631A>G protEffect K430R BTKbase_U78027.1:g.64631A>G mutType missense BTKbase_U78027.1:g.64630A>T protEffect K430X BTKbase_U78027.1:g.64630A>T mutType nonsense BTKbase_U78027.1:g.64663G>T protEffect E441X BTKbase_U78027.1:g.64663G>T mutType nonsense BTKbase_U78027.1:g.64677A>C protEffect E445D BTKbase_U78027.1:g.64677A>C mutType missense BTKbase_U78027.1:g.64688delT protEffect M449X450 BTKbase_U78027.1:g.64688delT mutType frameshift BTKbase_U78027.1:g.65207G>A protEffect M450I BTKbase_U78027.1:g.65207G>A mutType missense BTKbase_U78027.1:g.65212T>C protEffect L452P BTKbase_U78027.1:g.65212T>C mutType missense BTKbase_U78027.1:g.65213_65214delTT protEffect L452X454 BTKbase_U78027.1:g.65213_65214delTT mutType frameshift BTKbase_U78027.1:g.65218A>G protEffect H454R BTKbase_U78027.1:g.65218A>G mutType missense BTKbase_U78027.1:g.65220G>T protEffect E455X BTKbase_U78027.1:g.65220G>T mutType nonsense BTKbase_U78027.1:g.65232C>T protEffect Q459X BTKbase_U78027.1:g.65232C>T mutType nonsense BTKbase_U78027.1:g.65236T>A protEffect L460X BTKbase_U78027.1:g.65236T>A mutType nonsense BTKbase_U78027.1:g.65240_65241delTG protEffect 461_462delinsX BTKbase_U78027.1:g.65240_65241delTG mutType nonsense BTKbase_U78027.1:g.65242G>A protEffect G462D BTKbase_U78027.1:g.65242G>A mutType missense BTKbase_U78027.1:g.65242G>T protEffect G462V BTKbase_U78027.1:g.65242G>T mutType missense BTKbase_U78027.1:g.65249C>A protEffect C464X BTKbase_U78027.1:g.65249C>A mutType nonsense BTKbase_U78027.1:g.65253A>T protEffect K466X BTKbase_U78027.1:g.65253A>T mutType nonsense BTKbase_U78027.1:g.65275_65277delTCA protEffect 473_474delinsT BTKbase_U78027.1:g.65275_65277delTCA mutType inframe BTKbase_U78027.1:g.65283T>G protEffect Y476D BTKbase_U78027.1:g.65283T>G mutType missense BTKbase_U78027.1:g.65285delC protEffect Y476X BTKbase_U78027.1:g.65285delC mutType frameshift BTKbase_U78027.1:g.65287T>G protEffect M477R BTKbase_U78027.1:g.65287T>G mutType missense BTKbase_U78027.1:g.65312C>A protEffect Y485X BTKbase_U78027.1:g.65312C>A mutType nonsense BTKbase_U78027.1:g.65314T>C protEffect L486P BTKbase_U78027.1:g.65314T>C mutType missense BTKbase_U78027.1:g.65314_65315delTG protEffect 486_486delins21 BTKbase_U78027.1:g.65314_65315delTG mutType frameshift BTKbase_U78027.1:g.65319G>T protEffect E488X BTKbase_U78027.1:g.65319G>T mutType nonsense BTKbase_U78027.1:g.65324_65327delGCGC protEffect M489X498 BTKbase_U78027.1:g.65324_65327delGCGC mutType frameshift BTKbase_U78027.1:g.65323_65326delTGCG protEffect M489X498 BTKbase_U78027.1:g.65323_65326delTGCG mutType frameshift BTKbase_U78027.1:g.65333delC protEffect F493X499 BTKbase_U78027.1:g.65333delC mutType frameshift BTKbase_U78027.1:g.65337C>T protEffect Q494X BTKbase_U78027.1:g.65337C>T mutType nonsense BTKbase_U78027.1:g.65343C>T protEffect Q496X BTKbase_U78027.1:g.65343C>T mutType nonsense BTKbase_U78027.1:g.65346C>T protEffect Q497X BTKbase_U78027.1:g.65346C>T mutType nonsense BTKbase_U78027.1:g.65355G>T protEffect E500X BTKbase_U78027.1:g.65355G>T mutType nonsense BTKbase_U78027.1:g.65359T>C protEffect M501T BTKbase_U78027.1:g.65359T>C mutType missense BTKbase_U78027.1:g.65363C>A protEffect C502X BTKbase_U78027.1:g.65363C>A mutType nonsense BTKbase_U78027.1:g.65362G>T protEffect C502F BTKbase_U78027.1:g.65362G>T mutType missense BTKbase_U78027.1:g.65363C>G protEffect C502W BTKbase_U78027.1:g.65363C>G mutType missense BTKbase_U78027.1:g.65368A>T protEffect D504V BTKbase_U78027.1:g.65368A>T mutType missense BTKbase_U78027.1:g.65368delA protEffect D504X529 BTKbase_U78027.1:g.65368delA mutType frameshift BTKbase_U78027.1:g.65374G>T protEffect C506F BTKbase_U78027.1:g.65374G>T mutType missense BTKbase_U78027.1:g.65373T>C protEffect C506R BTKbase_U78027.1:g.65373T>C mutType missense BTKbase_U78027.1:g.65374G>A protEffect C506Y BTKbase_U78027.1:g.65374G>A mutType missense BTKbase_U78027.1:g.65380C>A protEffect A508D BTKbase_U78027.1:g.65380C>A mutType missense BTKbase_U78027.1:g.65384G>A protEffect M509I BTKbase_U78027.1:g.65384G>A mutType missense BTKbase_U78027.1:g.65384G>T protEffect M509I BTKbase_U78027.1:g.65384G>T mutType missense BTKbase_U78027.1:g.65383T>C protEffect M509T BTKbase_U78027.1:g.65383T>C mutType missense BTKbase_U78027.1:g.65382A>G protEffect M509V BTKbase_U78027.1:g.65382A>G mutType missense BTKbase_U78027.1:g.65382dupA protEffect M509X536 BTKbase_U78027.1:g.65382dupA mutType frameshift BTKbase_U78027.1:g.65388T>A protEffect Y511N BTKbase_U78027.1:g.65388T>A mutType missense BTKbase_U78027.1:g.65390C>A protEffect Y511X BTKbase_U78027.1:g.65390C>A mutType nonsense BTKbase_U78027.1:g.65388_65389dupGAAT protEffect Y511X BTKbase_U78027.1:g.65388_65389dupGAAT mutType nonsense BTKbase_U78027.1:g.65392T>C protEffect L512P BTKbase_U78027.1:g.65392T>C mutType missense BTKbase_U78027.1:g.65392T>A protEffect L512Q BTKbase_U78027.1:g.65392T>A mutType missense BTKbase_U78027.1:g.65410T>G protEffect L518R BTKbase_U78027.1:g.65410T>G mutType missense BTKbase_U78027.1:g.65415C>G protEffect R520G BTKbase_U78027.1:g.65415C>G mutType missense BTKbase_U78027.1:g.65416G>A protEffect R520Q BTKbase_U78027.1:g.65416G>A mutType missense BTKbase_U78027.1:g.65415C>T protEffect R520X BTKbase_U78027.1:g.65415C>T mutType nonsense BTKbase_U78027.1:g.65419A>G protEffect D521G BTKbase_U78027.1:g.65419A>G mutType missense BTKbase_U78027.1:g.65418G>C protEffect D521H BTKbase_U78027.1:g.65418G>C mutType missense BTKbase_U78027.1:g.65418G>A protEffect D521N BTKbase_U78027.1:g.65418G>A mutType missense BTKbase_U78027.1:g.65422T>C protEffect L522P BTKbase_U78027.1:g.65422T>C mutType missense BTKbase_U78027.1:g.66782C>T protEffect A523V BTKbase_U78027.1:g.66782C>T mutType missense BTKbase_U78027.1:g.66781_66845del protEffect A523X527 BTKbase_U78027.1:g.66781_66845del mutType frameshift BTKbase_U78027.1:g.66780_66781dupACTACAG protEffect A523X538 BTKbase_U78027.1:g.66780_66781dupACTACAG mutType frameshift BTKbase_U78027.1:g.66782C>A protEffect A523E BTKbase_U78027.1:g.66782C>A mutType missense BTKbase_U78027.1:g.66784G>C protEffect A524P BTKbase_U78027.1:g.66784G>C mutType missense BTKbase_U78027.1:g.66787C>G protEffect R525G BTKbase_U78027.1:g.66787C>G mutType missense BTKbase_U78027.1:g.66788G>C protEffect R525P BTKbase_U78027.1:g.66788G>C mutType missense BTKbase_U78027.1:g.66788G>A protEffect R525Q BTKbase_U78027.1:g.66788G>A mutType missense BTKbase_U78027.1:g.66787C>T protEffect R525X BTKbase_U78027.1:g.66787C>T mutType nonsense BTKbase_U78027.1:g.66792C>G protEffect N526K BTKbase_U78027.1:g.66792C>G mutType missense BTKbase_U78027.1:g.66793T>A protEffect C527S BTKbase_U78027.1:g.66793T>A mutType missense BTKbase_U78027.1:g.66794G>T protEffect C527F BTKbase_U78027.1:g.66794G>T mutType missense BTKbase_U78027.1:g.66795_66798delTTTG protEffect C527X528 BTKbase_U78027.1:g.66795_66798delTTTG mutType frameshift BTKbase_U78027.1:g.66793_66794delTG protEffect C527X535 BTKbase_U78027.1:g.66793_66794delTG mutType frameshift BTKbase_U78027.1:g.66802delA protEffect N530X555 BTKbase_U78027.1:g.66802delA mutType frameshift BTKbase_U78027.1:g.66811delG protEffect G533X555 BTKbase_U78027.1:g.66811delG mutType frameshift BTKbase_U78027.1:g.66817G>T protEffect V535F BTKbase_U78027.1:g.66817G>T mutType missense BTKbase_U78027.1:g.66816dupT protEffect V535X536 BTKbase_U78027.1:g.66816dupT mutType frameshift BTKbase_U78027.1:g.66824T>A protEffect V537E BTKbase_U78027.1:g.66824T>A mutType missense BTKbase_U78027.1:g.66826T>C protEffect S538P BTKbase_U78027.1:g.66826T>C mutType missense BTKbase_U78027.1:g.66828delT protEffect S538X555 BTKbase_U78027.1:g.66828delT mutType frameshift BTKbase_U78027.1:g.66833T>C protEffect F540S BTKbase_U78027.1:g.66833T>C mutType missense BTKbase_U78027.1:g.66832_66841del protEffect F540X552 BTKbase_U78027.1:g.66832_66841del mutType frameshift BTKbase_U78027.1:g.66836G>A protEffect G541D BTKbase_U78027.1:g.66836G>A mutType missense BTKbase_U78027.1:g.66839T>C protEffect L542P BTKbase_U78027.1:g.66839T>C mutType missense BTKbase_U78027.1:g.66844A>G protEffect R544G BTKbase_U78027.1:g.66844A>G mutType missense BTKbase_U78027.1:g.66845G>A protEffect R544K BTKbase_U78027.1:g.66845G>A mutType missense BTKbase_U78027.1:g.67487G>T protEffect R544S BTKbase_U78027.1:g.67487G>T mutType missense BTKbase_U78027.1:g.66845G>C protEffect R544T BTKbase_U78027.1:g.66845G>C mutType missense BTKbase_U78027.1:g.66844delA protEffect R544X555 BTKbase_U78027.1:g.66844delA mutType frameshift BTKbase_U78027.1:g.67492T>C protEffect V546A BTKbase_U78027.1:g.67492T>C mutType missense BTKbase_U78027.1:g.67495_67496dupATGTCCT protEffect L547X551 BTKbase_U78027.1:g.67495_67496dupATGTCCT mutType frameshift BTKbase_U78027.1:g.67506T>C protEffect Y551H BTKbase_U78027.1:g.67506T>C mutType missense BTKbase_U78027.1:g.67516C>G protEffect S554X BTKbase_U78027.1:g.67516C>G mutType nonsense BTKbase_U78027.1:g.67523_67544del protEffect G556X562 BTKbase_U78027.1:g.67523_67544del mutType frameshift BTKbase_U78027.1:g.67527A>T protEffect K558X BTKbase_U78027.1:g.67527A>T mutType nonsense BTKbase_U78027.1:g.67531T>C protEffect F559S BTKbase_U78027.1:g.67531T>C mutType missense BTKbase_U78027.1:g.67537_67538delinsA protEffect V561X569 BTKbase_U78027.1:g.67537_67538delinsA mutType frameshift BTKbase_U78027.1:g.67540G>T protEffect R562L BTKbase_U78027.1:g.67540G>T mutType missense BTKbase_U78027.1:g.67540G>C protEffect R562P BTKbase_U78027.1:g.67540G>C mutType missense BTKbase_U78027.1:g.67539C>T protEffect R562W BTKbase_U78027.1:g.67539C>T mutType missense BTKbase_U78027.1:g.67539_67540delinsT protEffect R562X569 BTKbase_U78027.1:g.67539_67540delinsT mutType frameshift BTKbase_U78027.1:g.67543G>T protEffect W563L BTKbase_U78027.1:g.67543G>T mutType missense BTKbase_U78027.1:g.67543G>A protEffect W563X BTKbase_U78027.1:g.67543G>A mutType nonsense BTKbase_U78027.1:g.67549C>T protEffect P565L BTKbase_U78027.1:g.67549C>T mutType missense BTKbase_U78027.1:g.67548C>A protEffect P565T BTKbase_U78027.1:g.67548C>A mutType missense BTKbase_U78027.1:g.67551C>T protEffect P566S BTKbase_U78027.1:g.67551C>T mutType missense BTKbase_U78027.1:g.67553delG protEffect P566X569 BTKbase_U78027.1:g.67553delG mutType frameshift BTKbase_U78027.1:g.67551_67552insT protEffect P566X572 BTKbase_U78027.1:g.67551_67552insT mutType frameshift BTKbase_U78027.1:g.67556A>C protEffect E567D BTKbase_U78027.1:g.67556A>C mutType missense BTKbase_U78027.1:g.67554G>A protEffect E567K BTKbase_U78027.1:g.67554G>A mutType missense BTKbase_U78027.1:g.67554delG protEffect E567X569 BTKbase_U78027.1:g.67554delG mutType frameshift BTKbase_U78027.1:g.67561T>C protEffect L569P BTKbase_U78027.1:g.67561T>C mutType missense BTKbase_U78027.1:g.67566_67570delTATAG protEffect Y571X577 BTKbase_U78027.1:g.67566_67570delTATAG mutType frameshift BTKbase_U78027.1:g.67566delT protEffect Y571X586 BTKbase_U78027.1:g.67566delT mutType frameshift BTKbase_U78027.1:g.67568_67569insTA protEffect S572X BTKbase_U78027.1:g.67568_67569insTA mutType frameshift BTKbase_U78027.1:g.67570_67571insTA protEffect S572X587 BTKbase_U78027.1:g.67570_67571insTA mutType frameshift BTKbase_U78027.1:g.67579G>T protEffect S575I BTKbase_U78027.1:g.67579G>T mutType missense BTKbase_U78027.1:g.67580C>A protEffect S575R BTKbase_U78027.1:g.67580C>A mutType missense BTKbase_U78027.1:g.67585A>T protEffect K577I BTKbase_U78027.1:g.67585A>T mutType missense BTKbase_U78027.1:g.67588C>A protEffect S578Y BTKbase_U78027.1:g.67588C>A mutType missense BTKbase_U78027.1:g.67590G>A protEffect D579N BTKbase_U78027.1:g.67590G>A mutType missense BTKbase_U78027.1:g.67591A>T protEffect D579V BTKbase_U78027.1:g.67591A>T mutType missense BTKbase_U78027.1:g.67596T>C protEffect W581R BTKbase_U78027.1:g.67596T>C mutType missense BTKbase_U78027.1:g.67597G>C protEffect W581S BTKbase_U78027.1:g.67597G>C mutType missense BTKbase_U78027.1:g.67598G>A protEffect W581X BTKbase_U78027.1:g.67598G>A mutType nonsense BTKbase_U78027.1:g.67600C>A protEffect A582D BTKbase_U78027.1:g.67600C>A mutType missense BTKbase_U78027.1:g.67600C>T protEffect A582V BTKbase_U78027.1:g.67600C>T mutType missense BTKbase_U78027.1:g.67600delC protEffect A582X586 BTKbase_U78027.1:g.67600delC mutType frameshift BTKbase_U78027.1:g.67603T>C protEffect F583S BTKbase_U78027.1:g.67603T>C mutType missense BTKbase_U78027.1:g.67604delT protEffect F583X586 BTKbase_U78027.1:g.67604delT mutType frameshift BTKbase_U78027.1:g.67605G>A protEffect G584R BTKbase_U78027.1:g.67605G>A mutType missense BTKbase_U78027.1:g.67605G>T protEffect G584W BTKbase_U78027.1:g.67605G>T mutType missense BTKbase_U78027.1:g.68127G>T protEffect V585F BTKbase_U78027.1:g.68127G>T mutType missense BTKbase_U78027.1:g.67605delG protEffect V585X586 BTKbase_U78027.1:g.67605delG mutType frameshift BTKbase_U78027.1:g.68133A>C protEffect M587L BTKbase_U78027.1:g.68133A>C mutType missense BTKbase_U78027.1:g.68134T>C protEffect M587T BTKbase_U78027.1:g.68134T>C mutType missense BTKbase_U78027.1:g.68138G>T protEffect W588C BTKbase_U78027.1:g.68138G>T mutType missense BTKbase_U78027.1:g.68136T>C protEffect W588R BTKbase_U78027.1:g.68136T>C mutType missense BTKbase_U78027.1:g.68137G>A protEffect W588X BTKbase_U78027.1:g.68137G>A mutType nonsense BTKbase_U78027.1:g.68138G>A protEffect W588X BTKbase_U78027.1:g.68138G>A mutType nonsense BTKbase_U78027.1:g.68138_68140delGGA protEffect 588_589delinsX BTKbase_U78027.1:g.68138_68140delGGA mutType inframe BTKbase_U78027.1:g.68141A>T protEffect E589D BTKbase_U78027.1:g.68141A>T mutType missense BTKbase_U78027.1:g.68140A>G protEffect E589G BTKbase_U78027.1:g.68140A>G mutType missense BTKbase_U78027.1:g.68139G>A protEffect E589K BTKbase_U78027.1:g.68139G>A mutType missense BTKbase_U78027.1:g.68142A>T protEffect I590F BTKbase_U78027.1:g.68142A>T mutType missense BTKbase_U78027.1:g.68142delA protEffect I590X648 BTKbase_U78027.1:g.68142delA mutType frameshift BTKbase_U78027.1:g.68146A>C protEffect Y591S BTKbase_U78027.1:g.68146A>C mutType missense BTKbase_U78027.1:g.68147C>A protEffect Y591X BTKbase_U78027.1:g.68147C>A mutType nonsense BTKbase_U78027.1:g.68148T>C protEffect S592P BTKbase_U78027.1:g.68148T>C mutType missense BTKbase_U78027.1:g.68149C>A protEffect S592Y BTKbase_U78027.1:g.68149C>A mutType missense BTKbase_U78027.1:g.68155G>A protEffect G594E BTKbase_U78027.1:g.68155G>A mutType missense BTKbase_U78027.1:g.68154G>A protEffect G594R BTKbase_U78027.1:g.68154G>A mutType missense BTKbase_U78027.1:g.68154G>C protEffect G594R BTKbase_U78027.1:g.68154G>C mutType missense BTKbase_U78027.1:g.68156delG protEffect G594X648 BTKbase_U78027.1:g.68156delG mutType frameshift BTKbase_U78027.1:g.68163C>A protEffect P597T BTKbase_U78027.1:g.68163C>A mutType missense BTKbase_U78027.1:g.68167A>G protEffect Y598C BTKbase_U78027.1:g.68167A>G mutType missense BTKbase_U78027.1:g.68166T>G protEffect Y598D BTKbase_U78027.1:g.68166T>G mutType missense BTKbase_U78027.1:g.68167A>C protEffect Y598S BTKbase_U78027.1:g.68167A>C mutType missense BTKbase_U78027.1:g.68168T>G protEffect Y598X BTKbase_U78027.1:g.68168T>G mutType nonsense BTKbase_U78027.1:g.68172A>T protEffect R600X BTKbase_U78027.1:g.68172A>T mutType nonsense BTKbase_U78027.1:g.68184_68185delAG protEffect S604X BTKbase_U78027.1:g.68184_68185delAG mutType nonsense BTKbase_U78027.1:g.68186_68187insGACAGT protEffect 604_605insDS BTKbase_U78027.1:g.68186_68187insGACAGT mutType inframe BTKbase_U78027.1:g.68190A>C protEffect T606P BTKbase_U78027.1:g.68190A>C mutType missense BTKbase_U78027.1:g.68194C>A protEffect A607D BTKbase_U78027.1:g.68194C>A mutType missense BTKbase_U78027.1:g.68209A>C protEffect Q612P BTKbase_U78027.1:g.68209A>C mutType missense BTKbase_U78027.1:g.68208C>T protEffect Q612X BTKbase_U78027.1:g.68208C>T mutType nonsense BTKbase_U78027.1:g.68208delC protEffect Q612X648 BTKbase_U78027.1:g.68208delC mutType frameshift BTKbase_U78027.1:g.68212G>C protEffect G613A BTKbase_U78027.1:g.68212G>C mutType missense BTKbase_U78027.1:g.68212G>A protEffect G613D BTKbase_U78027.1:g.68212G>A mutType missense BTKbase_U78027.1:g.68218G>C protEffect R615P BTKbase_U78027.1:g.68218G>C mutType missense BTKbase_U78027.1:g.68217C>A protEffect R615S BTKbase_U78027.1:g.68217C>A mutType missense BTKbase_U78027.1:g.68220C>T protEffect L616F BTKbase_U78027.1:g.68220C>T mutType missense BTKbase_U78027.1:g.68220C>A protEffect L616I BTKbase_U78027.1:g.68220C>A mutType missense BTKbase_U78027.1:g.68220C>G protEffect L616V BTKbase_U78027.1:g.68220C>G mutType missense BTKbase_U78027.1:g.68222_68224delCTA protEffect 616_617delinsL BTKbase_U78027.1:g.68222_68224delCTA mutType inframe BTKbase_U78027.1:g.68229C>G protEffect P619A BTKbase_U78027.1:g.68229C>G mutType missense BTKbase_U78027.1:g.68230C>T protEffect P619L BTKbase_U78027.1:g.68230C>T mutType missense BTKbase_U78027.1:g.68229C>T protEffect P619S BTKbase_U78027.1:g.68229C>T mutType missense BTKbase_U78027.1:g.68229C>A protEffect P619T BTKbase_U78027.1:g.68229C>A mutType missense BTKbase_U78027.1:g.68237delG protEffect L621X648 BTKbase_U78027.1:g.68237delG mutType frameshift BTKbase_U78027.1:g.68238G>C protEffect A622P BTKbase_U78027.1:g.68238G>C mutType missense BTKbase_U78027.1:g.68242C>T protEffect S623L BTKbase_U78027.1:g.68242C>T mutType missense BTKbase_U78027.1:g.68247A>T protEffect K625X BTKbase_U78027.1:g.68247A>T mutType nonsense BTKbase_U78027.1:g.68251T>G protEffect V626G BTKbase_U78027.1:g.68251T>G mutType missense BTKbase_U78027.1:g.68253_68257delins protEffect Y627X651 BTKbase_U78027.1:g.68253_68257delins mutType frameshift BTKbase_U78027.1:g.68255_68256insCA protEffect T628X649 BTKbase_U78027.1:g.68255_68256insCA mutType frameshift BTKbase_U78027.1:g.68263T>C protEffect M630T BTKbase_U78027.1:g.68263T>C mutType missense BTKbase_U78027.1:g.68261_68262dup protEffect M630X657 BTKbase_U78027.1:g.68261_68262dup mutType frameshift BTKbase_U78027.1:g.68263T>A protEffect M630K BTKbase_U78027.1:g.68263T>A mutType missense BTKbase_U78027.1:g.68267C>G protEffect Y631X BTKbase_U78027.1:g.68267C>G mutType nonsense BTKbase_U78027.1:g.68266_68267delAC protEffect Y631X BTKbase_U78027.1:g.68266_68267delAC mutType frameshift BTKbase_U78027.1:g.68265delT protEffect Y631X648 BTKbase_U78027.1:g.68265delT mutType frameshift BTKbase_U78027.1:g.68268delA protEffect S632X648 BTKbase_U78027.1:g.68268delA mutType frameshift BTKbase_U78027.1:g.68272G>A protEffect C633Y BTKbase_U78027.1:g.68272G>A mutType missense BTKbase_U78027.1:g.68272delG protEffect C633X648 BTKbase_U78027.1:g.68272delG mutType frameshift BTKbase_U78027.1:g.68275G>C protEffect W634S BTKbase_U78027.1:g.68275G>C mutType missense BTKbase_U78027.1:g.68276G>A protEffect W634X BTKbase_U78027.1:g.68276G>A mutType nonsense BTKbase_U78027.1:g.68278delA protEffect H635X648 BTKbase_U78027.1:g.68278delA mutType frameshift BTKbase_U78027.1:g.68280G>T protEffect E636X BTKbase_U78027.1:g.68280G>T mutType nonsense BTKbase_U78027.1:g.68279_68280insTTTTAG protEffect 635_636insFX BTKbase_U78027.1:g.68279_68280insTTTTAG mutType inframe BTKbase_U78027.1:g.71523delA protEffect K637X648 BTKbase_U78027.1:g.71523delA mutType frameshift BTKbase_U78027.1:g.71520_71521dupTTTTAG protEffect 636_637insFX BTKbase_U78027.1:g.71520_71521dupTTTTAG mutType inframe BTKbase_U78027.1:g.71524_71526delGCA protEffect A638del BTKbase_U78027.1:g.71524_71526delGCA mutType inframe BTKbase_U78027.1:g.71533C>T protEffect R641C BTKbase_U78027.1:g.71533C>T mutType missense BTKbase_U78027.1:g.71533C>G protEffect R641G BTKbase_U78027.1:g.71533C>G mutType missense BTKbase_U78027.1:g.71534G>A protEffect R641H BTKbase_U78027.1:g.71534G>A mutType missense BTKbase_U78027.1:g.71533_71539delCGTCCCA protEffect R641X646 BTKbase_U78027.1:g.71533_71539delCGTCCCA mutType frameshift BTKbase_U78027.1:g.71537C>G protEffect P642R BTKbase_U78027.1:g.71537C>G mutType missense BTKbase_U78027.1:g.71537_71544delCCACTTTC protEffect P642X654 BTKbase_U78027.1:g.71537_71544delCCACTTTC mutType frameshift BTKbase_U78027.1:g.71540C>T protEffect T643I BTKbase_U78027.1:g.71540C>T mutType missense BTKbase_U78027.1:g.71541delT protEffect T643X648 BTKbase_U78027.1:g.71541delT mutType frameshift BTKbase_U78027.1:g.71544C>A protEffect F644L BTKbase_U78027.1:g.71544C>A mutType missense BTKbase_U78027.1:g.71543T>C protEffect F644S BTKbase_U78027.1:g.71543T>C mutType missense BTKbase_U78027.1:g.71543T>A protEffect F644Y BTKbase_U78027.1:g.71543T>A mutType missense BTKbase_U78027.1:g.71552T>G protEffect L647R BTKbase_U78027.1:g.71552T>G mutType missense BTKbase_U78027.1:g.71555T>C protEffect L648P BTKbase_U78027.1:g.71555T>C mutType missense BTKbase_U78027.1:g.71564T>G protEffect I651S BTKbase_U78027.1:g.71564T>G mutType missense BTKbase_U78027.1:g.71564T>C protEffect I651T BTKbase_U78027.1:g.71564T>C mutType missense BTKbase_U78027.1:g.71564delT protEffect I651X652 BTKbase_U78027.1:g.71564delT mutType frameshift BTKbase_U78027.1:g.71567T>C protEffect L652P BTKbase_U78027.1:g.71567T>C mutType missense BTKbase_U78027.1:g.46174dupG mutType upstream BTKbase_U78027.1:g.46338G>A protEffect R48X76 BTKbase_U78027.1:g.46338G>A mutType gain BTKbase_U78027.1:g.46946G>C protEffect R81X119 BTKbase_U78027.1:g.46946G>C mutType insertion BTKbase_U78027.1:g.46937_46951del protEffect Q78X114 BTKbase_U78027.1:g.46937_46951del mutType cryptic BTKbase_U78027.1:g.51401A>T protEffect V103X119 BTKbase_U78027.1:g.51401A>T mutType gain BTKbase_U78027.1:g.51401A>C mutType insertion BTKbase_U78027.1:g.51401A>G protEffect 103_104insSVFSSTQ BTKbase_U78027.1:g.51401A>G mutType inframe BTKbase_U78027.1:g.51402G>A protEffect 103_104insSVFSSTQ BTKbase_U78027.1:g.51402G>A mutType inframe BTKbase_U78027.1:g.51485G>A protEffect 104_131delinsX BTKbase_U78027.1:g.51485G>A mutType loss BTKbase_U78027.1:g.58784A>C protEffect V131_S174del BTKbase_U78027.1:g.58784A>C mutType loss BTKbase_U78027.1:g.51485G>T protEffect 104_131delinsX BTKbase_U78027.1:g.51485G>T mutType deletion BTKbase_U78027.1:g.58785G>A protEffect V131_S174del BTKbase_U78027.1:g.58785G>A mutType loss BTKbase_U78027.1:g.60908G>T mutType loss BTKbase_U78027.1:g.61324G>A protEffect Q260_E280del BTKbase_U78027.1:g.61324G>A mutType loss BTKbase_U78027.1:g.61392G>A protEffect Q260_E280del BTKbase_U78027.1:g.61392G>A mutType loss BTKbase_U78027.1:g.61388G>A protEffect Q260_E280del BTKbase_U78027.1:g.61388G>A mutType loss BTKbase_U78027.1:g.62183G>A protEffect W281_T324del BTKbase_U78027.1:g.62183G>A mutType loss BTKbase_U78027.1:g.62859delG mutType loss BTKbase_U78027.1:g.62862A>T protEffect K300X321 BTKbase_U78027.1:g.62862A>T mutType loss BTKbase_U78027.1:g.62861G>T protEffect K300X321 BTKbase_U78027.1:g.62861G>T mutType loss BTKbase_U78027.1:g.63890A>T protEffect L369X398 BTKbase_U78027.1:g.63890A>T mutType loss BTKbase_U78027.1:g.64518A>T protEffect 384_384delins91 BTKbase_U78027.1:g.64518A>T mutType loss BTKbase_U78027.1:g.63968delT protEffect G393X409 BTKbase_U78027.1:g.63968delT mutType gain BTKbase_U78027.1:g.64692G>T protEffect G393X426 BTKbase_U78027.1:g.64692G>T mutType loss BTKbase_U78027.1:g.64697T>G protEffect M450X451 BTKbase_U78027.1:g.64697T>G mutType gain BTKbase_U78027.1:g.66769_66772delTTTG protEffect A523X527 BTKbase_U78027.1:g.66769_66772delTTTG mutType loss BTKbase_U78027.1:g.66779A>C protEffect A523X527 BTKbase_U78027.1:g.66779A>C mutType deletion BTKbase_U78027.1:g.66846G>C protEffect R544X545 BTKbase_U78027.1:g.66846G>C mutType gain BTKbase_U78027.1:g.67610G>A protEffect E599_T628del BTKbase_U78027.1:g.67610G>A mutType loss BTKbase_U78027.1:g.68283G>A protEffect V626_E636del BTKbase_U78027.1:g.68283G>A mutType inframe C1QAbase_D0007:g.2687C>T protEffect Q208X C1QAbase_D0007:g.2687C>T mutType nonsense C1QBbase_D0111:g.7335G>A protEffect G42D C1QBbase_D0111:g.7335G>A mutType missense C1QBbase_D0111:g.8907C>T protEffect R177X C1QBbase_D0111:g.8907C>T mutType nonsense C1QBbase_D0111:g.9108G>A protEffect G244R C1QBbase_D0111:g.9108G>A mutType missense C1QCbase_D0008:g.1491G>A protEffect G34R C1QCbase_D0008:g.1491G>A mutType missense C1QCbase_D0008:g.4618C>T protEffect R69X C1QCbase_D0008:g.4618C>T mutType nonsense C1QCbase_D0008:g.4626delC protEffect P71X137 C1QCbase_D0008:g.4626delC mutType frameshift C1QCbase_D0008:g.4639G>A protEffect G76R C1QCbase_D0008:g.4639G>A mutType missense C1Sbase_C1S_DNA:g.5447C>G protEffect Y204X C1Sbase_C1S_DNA:g.5447C>G mutType nonsense C1Sbase_D0009:g.7961_7964delTTTG protEffect F378X409 C1Sbase_D0009:g.7961_7964delTTTG mutType frameshift C1Sbase_D0009:g.10626G>T protEffect E597X C1Sbase_D0009:g.10626G>T mutType nonsense C1Sbase_D0009:g.10404C>T protEffect R523X C1Sbase_D0009:g.10404C>T mutType nonsense C1Sbase_C1S_DNA:g.10626G>T protEffect E597X C1Sbase_C1S_DNA:g.10626G>T mutType nonsense C1Sbase_C1S_DNA:g.10726G>A protEffect G630E C1Sbase_C1S_DNA:g.10726G>A mutType missense C2base_D0094:g.2151G>A protEffect C131Y C2base_D0094:g.2151G>A mutType missense C2base_D0094:g.9059G>C protEffect E318D C2base_D0094:g.9059G>C mutType missense C2base_D0094:g.7326_7353del protEffect V281X282 C2base_D0094:g.7326_7353del mutType frameshift C2base_D0094:g.16300G>A protEffect G464R C2base_D0094:g.16300G>A mutType missense C3base_D0106:g.10970G>A protEffect D549N C3base_D0106:g.10970G>A mutType missense C3base_D0106:g.10973T>C protEffect S550P C3base_D0106:g.10973T>C mutType missense C3base_D0106:g.10981G>A protEffect W552X C3base_D0106:g.10981G>A mutType nonsense C3base_D0106:g.11896G>A protEffect R592Q C3base_D0106:g.11896G>A mutType missense C3base_D0106:g.19119_19179del protEffect S765X771 C3base_D0106:g.19119_19179del mutType frameshift C3base_D0106:g.23958C>T protEffect R848X C3base_D0106:g.23958C>T mutType nonsense C3base_D0106:g.27182_27183insT protEffect L1039X1105 C3base_D0106:g.27182_27183insT mutType frameshift C3base_D0106:g.28580C>G protEffect Y1081X C3base_D0106:g.28580C>G mutType nonsense C3base_D0106:g.28185_28186insT protEffect F1059X1105 C3base_D0106:g.28185_28186insT mutType frameshift C3base_D0106:g.9143G>T protEffect G335X341 C3base_D0106:g.9143G>T mutType deletion C3base_D0106:g.43362A>G mutType inframe C5base_D0107:g.1067C>T protEffect Q19X C5base_D0107:g.1067C>T mutType nonsense C5base_D0107:g.27854A>G protEffect G334X337 C5base_D0107:g.27854A>G mutType frameshift C5base_D0107:g.33896_33897delinsCTCT protEffect E628X649 C5base_D0107:g.33896_33897delinsCTCT mutType frameshift C5base_D0107:g.88510C>T protEffect R1476X C5base_D0107:g.88510C>T mutType nonsense C6base_D0108:g.18158delC protEffect P79X122 C6base_D0108:g.18158delC mutType frameshift C6base_D0108:g.40140delG protEffect Q274X319 C6base_D0108:g.40140delG mutType frameshift C6base_D0108:g.45142delC protEffect Q380X386 C6base_D0108:g.45142delC mutType frameshift C6base_D0108:g.62884delG protEffect D627X630 C6base_D0108:g.62884delG mutType frameshift C7base_D0109:g.49590G>A protEffect C475Y C7base_D0109:g.49590G>A mutType missense C8Bbase_D0010:g.10088C>T protEffect Q91X C8Bbase_D0010:g.10088C>T mutType nonsense C8Bbase_D0010:g.26012C>T protEffect R428X C8Bbase_D0010:g.26012C>T mutType nonsense C8Bbase_D0010:g.21098_21099dupGGCTGTG protEffect L350X357 C8Bbase_D0010:g.21098_21099dupGGCTGTG mutType frameshift C8Bbase_D0010:g.10153delC protEffect T112X134 C8Bbase_D0010:g.10153delC mutType frameshift C8Bbase_D0010:g.14868delC protEffect P202X206 C8Bbase_D0010:g.14868delC mutType frameshift C8Bbase_D0010:g.10178C>T protEffect R121X C8Bbase_D0010:g.10178C>T mutType nonsense C8Bbase_D0010:g.17378C>T protEffect R274X C8Bbase_D0010:g.17378C>T mutType nonsense C9base_D0110:g.23357C>A protEffect C54X C9base_D0110:g.23357C>A mutType nonsense C9base_D0110:g.24307C>T protEffect R154X C9base_D0110:g.24307C>T mutType nonsense C9base_D0110:g.24193C>T protEffect R116X C9base_D0110:g.24193C>T mutType nonsense C9base_D0110:g.24202T>G protEffect C119G C9base_D0110:g.24202T>G mutType missense C9base_D0110:g.58679C>G protEffect S427X C9base_D0110:g.58679C>G mutType nonsense CASP10base_D0012:g.25946C>T protEffect L242F CASP10base_D0012:g.25946C>T mutType missense CASP10base_D0012:g.27207G>A protEffect V367I CASP10base_D0012:g.27207G>A mutType missense CASP8base_D0013:g.19791C>T protEffect R248W CASP8base_D0013:g.19791C>T mutType missense CD19base_D0112:g.5221dupA protEffect K324X328 CD19base_D0112:g.5221dupA mutType frameshift CD19base_D0112:g.6679_6680delGA protEffect E462X465 CD19base_D0112:g.6679_6680delGA mutType frameshift CD247base_D0115:g.80235C>T protEffect Q70X CD247base_D0115:g.80235C>T mutType nonsense CD247base_D0115:g.86554_86555insC protEffect D139X273 CD247base_D0115:g.86554_86555insC mutType frameshift CD3Dbase_D0014:g.2604C>T protEffect R68X CD3Dbase_D0014:g.2604C>T mutType nonsense CD3Dbase_D0014:g.3149C>A protEffect C93X CD3Dbase_D0014:g.3149C>A mutType nonsense CD3Dbase_D0014:g.3143A>G protEffect 92_136delinsT CD3Dbase_D0014:g.3143A>G mutType inframe CD3Ebase_HSCD3E05:g.87G>A protEffect W57X CD3Ebase_HSCD3E05:g.87G>A mutType nonsense CD3Ebase_HSCD3E06:g.173T>C mutType loss CD3Gbase_HSTCR3G1:g.1380A>G protEffect M1V CD3Gbase_HSTCR3G1:g.1380A>G mutType initiation_codon CD3Gbase_HSTCR3G3:g.27G>C protEffect G27X29 CD3Gbase_HSTCR3G3:g.27G>C mutType loss CD3Gbase_HSTCR3G3:g.153A>T protEffect K69X CD3Gbase_HSTCR3G3:g.153A>T mutType nonsense CD40Lbase_D0015:g.1086C>T protEffect R11X CD40Lbase_D0015:g.1086C>T mutType nonsense CD40Lbase_D0015:g.1127_1128ins protEffect M25X84 CD40Lbase_D0015:g.1127_1128ins mutType frameshift CD40Lbase_D0015:g.1133T>G protEffect Y26X CD40Lbase_D0015:g.1133T>G mutType nonsense CD40Lbase_D0015:g.1142delT protEffect T29X36 CD40Lbase_D0015:g.1142delT mutType frameshift CD40Lbase_D0015:g.1162T>G protEffect M36R CD40Lbase_D0015:g.1162T>G mutType missense CD40Lbase_D0015:g.1167G>C protEffect G38R CD40Lbase_D0015:g.1167G>C mutType missense CD40Lbase_D0015:g.1171C>A protEffect S39X CD40Lbase_D0015:g.1171C>A mutType nonsense CD40Lbase_D0015:g.1197A>T protEffect R48X CD40Lbase_D0015:g.1197A>T mutType nonsense CD40Lbase_D0015:g.1211G>A protEffect K52K CD40Lbase_D0015:g.1211G>A mutType missense CD40Lbase_D0015:g.1209A>T protEffect K52X CD40Lbase_D0015:g.1209A>T mutType nonsense CD40Lbase_D0015:g.3073_3076delATAG protEffect I53X65 CD40Lbase_D0015:g.3073_3076delATAG mutType frameshift CD40Lbase_D0015:g.3074_3077delTAGA protEffect I53X65 CD40Lbase_D0015:g.3074_3077delTAGA mutType frameshift CD40Lbase_D0015:g.3082G>T protEffect E56X CD40Lbase_D0015:g.3082G>T mutType nonsense CD40Lbase_D0015:g.3100_3116del protEffect D62X79 CD40Lbase_D0015:g.3100_3116del mutType frameshift CD40Lbase_D0015:g.3124C>T protEffect Q70X CD40Lbase_D0015:g.3124C>T mutType nonsense CD40Lbase_D0015:g.3124_3125delCA protEffect Q70X84 CD40Lbase_D0015:g.3124_3125delCA mutType frameshift CD40Lbase_D0015:g.3126_3127insT protEffect R71X CD40Lbase_D0015:g.3126_3127insT mutType frameshift CD40Lbase_D0015:g.3132C>A protEffect C72X CD40Lbase_D0015:g.3132C>A mutType nonsense CD40Lbase_D0015:g.3142G>T protEffect E76X CD40Lbase_D0015:g.3142G>T mutType nonsense CD40Lbase_D0015:g.3158_3159insT protEffect L81X85 CD40Lbase_D0015:g.3158_3159insT mutType frameshift CD40Lbase_D0015:g.3158dupT protEffect L81X85 CD40Lbase_D0015:g.3158dupT mutType frameshift CD40Lbase_D0015:g.3202A>T protEffect K96X CD40Lbase_D0015:g.3202A>T mutType nonsense CD40Lbase_D0015:g.7185delA protEffect I98X100 CD40Lbase_D0015:g.7185delA mutType frameshift CD40Lbase_D0015:g.7193dupA protEffect N101X112 CD40Lbase_D0015:g.7193dupA mutType frameshift CD40Lbase_D0015:g.7210_7216delAAAGAAA protEffect K107X125 CD40Lbase_D0015:g.7210_7216delAAAGAAA mutType frameshift CD40Lbase_D0015:g.7213G>T protEffect E108X CD40Lbase_D0015:g.7213G>T mutType nonsense CD40Lbase_D0015:g.7214delA protEffect E108X127 CD40Lbase_D0015:g.7214delA mutType frameshift CD40Lbase_D0015:g.7225G>T protEffect E112X CD40Lbase_D0015:g.7225G>T mutType nonsense CD40Lbase_D0015:g.7237G>C protEffect G116R CD40Lbase_D0015:g.7237G>C mutType missense CD40Lbase_D0015:g.7237G>A protEffect D97X108 CD40Lbase_D0015:g.7237G>A mutType frameshift CD40Lbase_D0015:g.9184C>A protEffect A123E CD40Lbase_D0015:g.9184C>A mutType missense CD40Lbase_D0015:g.9183delG protEffect A123X127 CD40Lbase_D0015:g.9183delG mutType frameshift CD40Lbase_D0015:g.9190A>G protEffect H125R CD40Lbase_D0015:g.9190A>G mutType missense CD40Lbase_D0015:g.9193T>C protEffect V126A CD40Lbase_D0015:g.9193T>C mutType missense CD40Lbase_D0015:g.9193T>A protEffect V126D CD40Lbase_D0015:g.9193T>A mutType missense CD40Lbase_D0015:g.9192_9193insA protEffect V126X129 CD40Lbase_D0015:g.9192_9193insA mutType frameshift CD40Lbase_D0015:g.9200T>A protEffect S128R CD40Lbase_D0015:g.9200T>A mutType missense CD40Lbase_D0015:g.9202A>G protEffect E129G CD40Lbase_D0015:g.9202A>G mutType missense CD40Lbase_D0015:g.9197_9198insA protEffect S128X129 CD40Lbase_D0015:g.9197_9198insA mutType frameshift CD40Lbase_D0015:g.9197_9198insG protEffect S128X129 CD40Lbase_D0015:g.9197_9198insG mutType frameshift CD40Lbase_D0015:g.9211_9212insA protEffect S132X133 CD40Lbase_D0015:g.9211_9212insA mutType frameshift CD40Lbase_D0015:g.11845_11846ins12 protEffect 136_137ins4aa CD40Lbase_D0015:g.11845_11846ins12 mutType inframe CD40Lbase_D0015:g.11845_11846ins9 protEffect 136_137ins3aa CD40Lbase_D0015:g.11845_11846ins9 mutType inframe CD40Lbase_D0015:g.11851C>T protEffect Q139X CD40Lbase_D0015:g.11851C>T mutType nonsense CD40Lbase_D0015:g.11856G>T protEffect W140C CD40Lbase_D0015:g.11856G>T mutType missense CD40Lbase_D0015:g.11854T>G protEffect W140G CD40Lbase_D0015:g.11854T>G mutType missense CD40Lbase_D0015:g.11854T>C protEffect W140R CD40Lbase_D0015:g.11854T>C mutType missense CD40Lbase_D0015:g.11855G>A protEffect W140X CD40Lbase_D0015:g.11855G>A mutType nonsense CD40Lbase_D0015:g.11860_11865delGAAAAA protEffect E142_K143del CD40Lbase_D0015:g.11860_11865delGAAAAA mutType inframe CD40Lbase_D0015:g.11864A>C protEffect K143T CD40Lbase_D0015:g.11864A>C mutType missense CD40Lbase_D0015:g.11867G>A protEffect G144E CD40Lbase_D0015:g.11867G>A mutType missense CD40Lbase_D0015:g.11865_11866insA protEffect 144_144delins21 CD40Lbase_D0015:g.11865_11866insA mutType frameshift CD40Lbase_D0015:g.11871C>A protEffect Y145X CD40Lbase_D0015:g.11871C>A mutType nonsense CD40Lbase_D0015:g.11869_11871delTAC protEffect Y145del CD40Lbase_D0015:g.11869_11871delTAC mutType inframe CD40Lbase_D0015:g.11876C>A protEffect T147N CD40Lbase_D0015:g.11876C>A mutType missense CD40Lbase_D0015:g.11880delG protEffect M148X153 CD40Lbase_D0015:g.11880delG mutType frameshift CD40Lbase_D0015:g.11880_11884delGAGCA protEffect M148X162 CD40Lbase_D0015:g.11880_11884delGAGCA mutType frameshift CD40Lbase_D0015:g.11900T>C protEffect L155P CD40Lbase_D0015:g.11900T>C mutType missense CD40Lbase_D0015:g.11906delA protEffect N157X161 CD40Lbase_D0015:g.11906delA mutType frameshift CD40Lbase_D0015:g.11908delG protEffect G158X161 CD40Lbase_D0015:g.11908delG mutType frameshift CD40Lbase_D0015:g.11918T>C protEffect L161P CD40Lbase_D0015:g.11918T>C mutType missense CD40Lbase_D0015:g.11931delA protEffect R165X190 CD40Lbase_D0015:g.11931delA mutType frameshift CD40Lbase_D0015:g.11932C>T protEffect Q166X CD40Lbase_D0015:g.11932C>T mutType nonsense CD40Lbase_D0015:g.11935G>C protEffect G167R CD40Lbase_D0015:g.11935G>C mutType missense CD40Lbase_D0015:g.11935G>T protEffect G167X CD40Lbase_D0015:g.11935G>T mutType nonsense CD40Lbase_D0015:g.11941T>G protEffect Y169D CD40Lbase_D0015:g.11941T>G mutType missense CD40Lbase_D0015:g.11941T>A protEffect Y169N CD40Lbase_D0015:g.11941T>A mutType missense CD40Lbase_D0015:g.11945A>G protEffect Y170C CD40Lbase_D0015:g.11945A>G mutType missense CD40Lbase_D0015:g.11944_11952delTATATCTAT protEffect Y170_Y172del CD40Lbase_D0015:g.11944_11952delTATATCTAT mutType inframe CD40Lbase_D0015:g.11947_11949delATC protEffect I171del CD40Lbase_D0015:g.11947_11949delATC mutType inframe CD40Lbase_D0015:g.11947_11948delAT protEffect I171X199 CD40Lbase_D0015:g.11947_11948delAT mutType frameshift CD40Lbase_D0015:g.11954C>A protEffect A173D CD40Lbase_D0015:g.11954C>A mutType missense CD40Lbase_D0015:g.11957A>G protEffect Q174R CD40Lbase_D0015:g.11957A>G mutType missense CD40Lbase_D0015:g.11956C>T protEffect Q174X CD40Lbase_D0015:g.11956C>T mutType nonsense CD40Lbase_D0015:g.11957_11958delAA protEffect Q174X199 CD40Lbase_D0015:g.11957_11958delAA mutType frameshift CD40Lbase_D0015:g.11963C>T protEffect T176I CD40Lbase_D0015:g.11963C>T mutType missense CD40Lbase_D0015:g.11975delA protEffect 180_180delins11 CD40Lbase_D0015:g.11975delA mutType frameshift CD40Lbase_D0015:g.11982_11983insATA protEffect 182_183insI CD40Lbase_D0015:g.11982_11983insATA mutType inframe CD40Lbase_D0015:g.11987C>A protEffect S184X CD40Lbase_D0015:g.11987C>A mutType nonsense CD40Lbase_D0015:g.11992C>T protEffect Q186X CD40Lbase_D0015:g.11992C>T mutType nonsense CD40Lbase_D0015:g.11995delG protEffect A187X190 CD40Lbase_D0015:g.11995delG mutType frameshift CD40Lbase_D0015:g.12013_12014insCT protEffect L193X196 CD40Lbase_D0015:g.12013_12014insCT mutType frameshift CD40Lbase_D0015:g.12013_12014insCAGCC protEffect L193X197 CD40Lbase_D0015:g.12013_12014insCAGCC mutType frameshift CD40Lbase_D0015:g.12020T>C protEffect L195P CD40Lbase_D0015:g.12020T>C mutType missense CD40Lbase_D0015:g.12025delT protEffect S197X241 CD40Lbase_D0015:g.12025delT mutType frameshift CD40Lbase_D0015:g.12034A>T protEffect R200X CD40Lbase_D0015:g.12034A>T mutType nonsense CD40Lbase_D0015:g.12040G>T protEffect E202X CD40Lbase_D0015:g.12040G>T mutType nonsense CD40Lbase_D0015:g.12040_12041insA protEffect E202X230 CD40Lbase_D0015:g.12040_12041insA mutType frameshift CD40Lbase_D0015:g.12044G>T protEffect R203I CD40Lbase_D0015:g.12044G>T mutType missense CD40Lbase_D0015:g.12059C>A protEffect A208D CD40Lbase_D0015:g.12059C>A mutType missense CD40Lbase_D0015:g.12072_12073delCA protEffect H212X229 CD40Lbase_D0015:g.12072_12073delCA mutType frameshift CD40Lbase_D0015:g.12090C>A protEffect C218X CD40Lbase_D0015:g.12090C>A mutType nonsense CD40Lbase_D0015:g.12087_12088insT protEffect C218X230 CD40Lbase_D0015:g.12087_12088insT mutType frameshift CD40Lbase_D0015:g.12094C>T protEffect Q220X CD40Lbase_D0015:g.12094C>T mutType nonsense CD40Lbase_D0015:g.12097C>T protEffect Q221X CD40Lbase_D0015:g.12097C>T mutType nonsense CD40Lbase_D0015:g.12101C>T protEffect S222F CD40Lbase_D0015:g.12101C>T mutType missense CD40Lbase_D0015:g.12106C>T protEffect H224Y CD40Lbase_D0015:g.12106C>T mutType missense CD40Lbase_D0015:g.12113G>C protEffect G226A CD40Lbase_D0015:g.12113G>C mutType missense CD40Lbase_D0015:g.12116G>T protEffect G227V CD40Lbase_D0015:g.12116G>T mutType missense CD40Lbase_D0015:g.12115G>T protEffect G227X CD40Lbase_D0015:g.12115G>T mutType nonsense CD40Lbase_D0015:g.12115_12117delGGA protEffect G227del CD40Lbase_D0015:g.12115_12117delGGA mutType inframe CD40Lbase_D0015:g.12119_12120insATT protEffect V228X263 CD40Lbase_D0015:g.12119_12120insATT mutType frameshift CD40Lbase_D0015:g.12123T>A protEffect F229L CD40Lbase_D0015:g.12123T>A mutType missense CD40Lbase_D0015:g.12128T>C protEffect L231S CD40Lbase_D0015:g.12128T>C mutType missense CD40Lbase_D0015:g.12130C>T protEffect Q232X CD40Lbase_D0015:g.12130C>T mutType nonsense CD40Lbase_D0015:g.12139G>C protEffect A235P CD40Lbase_D0015:g.12139G>C mutType missense CD40Lbase_D0015:g.12143C>A protEffect S236X CD40Lbase_D0015:g.12143C>A mutType nonsense CD40Lbase_D0015:g.12146T>A protEffect V237E CD40Lbase_D0015:g.12146T>A mutType missense CD40Lbase_D0015:g.12145_12146insC protEffect V237X243 CD40Lbase_D0015:g.12145_12146insC mutType frameshift CD40Lbase_D0015:g.12162_12163delTG protEffect T242X284 CD40Lbase_D0015:g.12162_12163delTG mutType frameshift CD40Lbase_D0015:g.12193T>A protEffect F253I CD40Lbase_D0015:g.12193T>A mutType missense CD40Lbase_D0015:g.12197C>T protEffect T254M CD40Lbase_D0015:g.12197C>T mutType missense CD40Lbase_D0015:g.12206G>A protEffect G257D CD40Lbase_D0015:g.12206G>A mutType missense CD40Lbase_D0015:g.12205G>A protEffect G257S CD40Lbase_D0015:g.12205G>A mutType missense CD40Lbase_D0015:g.12209T>C protEffect L258S CD40Lbase_D0015:g.12209T>C mutType missense CD40Lbase_D0015:g.12212delT protEffect L259X312 CD40Lbase_D0015:g.12212delT mutType frameshift CD40Lbase_D0015:g.865A>C mutType upstream CD40Lbase_D0015:g.1212G>T protEffect M25X26 CD40Lbase_D0015:g.1212G>T mutType frameshift CD40Lbase_D0015:g.1212G>A protEffect M25X26 CD40Lbase_D0015:g.1212G>A mutType frameshift CD40Lbase_D0015:g.3068_3076delAATAGATAG protEffect I53X65 CD40Lbase_D0015:g.3068_3076delAATAGATAG mutType frameshift CD40Lbase_D0015:g.3069_3076delATAGATAG protEffect I53X65 CD40Lbase_D0015:g.3069_3076delATAGATAG mutType frameshift CD40Lbase_D0015:g.3205G>A protEffect I53_K96del CD40Lbase_D0015:g.3205G>A mutType inframe CD40Lbase_D0015:g.3206T>A protEffect I53_K96del CD40Lbase_D0015:g.3206T>A mutType inframe CD40Lbase_D0015:g.7242G>A protEffect D97X108 CD40Lbase_D0015:g.7242G>A mutType frameshift CD40Lbase_D0015:g.9162G>A protEffect 116_137delinsV CD40Lbase_D0015:g.9162G>A mutType inframe CD40Lbase_D0015:g.7238G>A protEffect D97X108 CD40Lbase_D0015:g.7238G>A mutType frameshift CD40Lbase_D0015:g.9162G>C protEffect 116_137delinsV CD40Lbase_D0015:g.9162G>C mutType inframe CD40Lbase_D0015:g.8248A>T protEffect G116X127 CD40Lbase_D0015:g.8248A>T mutType frameshift CD40Lbase_D0015:g.11845delG protEffect V137X139 CD40Lbase_D0015:g.11845delG mutType frameshift CD40Lbase_D0015:g.9226G>C protEffect 116_137delinsV CD40Lbase_D0015:g.9226G>C mutType inframe CD40Lbase_D0015:g.9227T>C protEffect 116_137delinsV CD40Lbase_D0015:g.9227T>C mutType inframe CD55base_D0104:g.2023G>A protEffect W87X CD55base_D0104:g.2023G>A mutType nonsense CD55base_D0104:g.5132C>T protEffect R170X CD55base_D0104:g.5132C>T mutType nonsense CD55base_D0104:g.6250C>T protEffect S199L CD55base_D0104:g.6250C>T mutType missense CD55base_D0104:g.2025C>A protEffect W87X88 CD55base_D0104:g.2025C>A mutType deletion CD59base_D0016:g.20063delC protEffect A41X79 CD59base_D0016:g.20063delC mutType frameshift CD79Abase_D0017:g.2924A>G protEffect Q127X141 CD79Abase_D0017:g.2924A>G mutType frameshift CD79Bbase_D0126:g.2550G>A protEffect G138S CD79Bbase_D0126:g.2550G>A mutType missense CD8Abase_D0018:g.1044G>A protEffect G111S CD8Abase_D0018:g.1044G>A mutType missense CD8Abase_M27161.1:g.1044G>A protEffect G111S CD8Abase_M27161.1:g.1044G>A mutType missense CEBPEbase_D0019:g.2063_2067delTGACC protEffect P83X202 CEBPEbase_D0019:g.2063_2067delTGACC mutType frameshift CEBPEbase_D0019:g.2323dupA protEffect K170X204 CEBPEbase_D0019:g.2323dupA mutType frameshift CEBPEbase_D0019:g.3225T>C protEffect V218A CEBPEbase_D0019:g.3225T>C mutType missense CFDbase_D0027:g.317660C>A protEffect S42X CFDbase_D0027:g.317660C>A mutType nonsense CFDbase_D0027:g.320088T>G protEffect V213G CFDbase_D0027:g.320088T>G mutType missense CFDbase_D0027:g.320090T>C protEffect C214R CFDbase_D0027:g.320090T>C mutType missense CFHbase_D0040:g.51581A>G protEffect R78G CFHbase_D0040:g.51581A>G mutType missense CFHbase_AL049744.8:g.94051T>A protEffect N516K CFHbase_AL049744.8:g.94051T>A mutType missense CFHbase_AL049744.8:g.106839_106840insA protEffect N767X774 CFHbase_AL049744.8:g.106839_106840insA mutType frameshift CFHbase_AL049744.8:g.119116G>T protEffect Q950H CFHbase_AL049744.8:g.119116G>T mutType missense CFHbase_AL049744.8:g.125619C>T protEffect S1191L CFHbase_AL049744.8:g.125619C>T mutType missense CFHbase_AL049744.8:g.125637T>C protEffect V1197A CFHbase_AL049744.8:g.125637T>C mutType missense CFHbase_AL049744.8:g.103553A>G protEffect R567G CFHbase_AL049744.8:g.103553A>G mutType missense CFIbase_D0040:g.36359G>A protEffect S90N CFIbase_D0040:g.36359G>A mutType missense CFIbase_D0040:g.41282G>A protEffect G162D CFIbase_D0040:g.41282G>A mutType missense CFIbase_D0040:g.41345A>G protEffect H183R CFIbase_D0040:g.41345A>G mutType missense CFIbase_D0040:g.42416T>G protEffect C247G CFIbase_D0040:g.42416T>G mutType missense CFIbase_D0040:g.42449G>A protEffect A258T CFIbase_D0040:g.42449G>A mutType missense CFIbase_D0040:g.42623G>A protEffect S268S CFIbase_D0040:g.42623G>A mutType missense CFIbase_D0040:g.50480A>G protEffect I306V CFIbase_D0040:g.50480A>G mutType missense CFIbase_D0040:g.53448T>C protEffect I340T CFIbase_D0040:g.53448T>C mutType missense CFIbase_D0040:g.53712A>C protEffect Y369S CFIbase_D0040:g.53712A>C mutType missense CFIbase_D0040:g.56574A>T protEffect H418L CFIbase_D0040:g.56574A>T mutType missense CFIbase_D0040:g.56741C>T protEffect R474X CFIbase_D0040:g.56741C>T mutType nonsense CFPbase_D0066:g.3781C>T protEffect R79X CFPbase_D0066:g.3781C>T mutType nonsense CFPbase_D0066:g.3844C>T protEffect R100W CFPbase_D0066:g.3844C>T mutType missense CFPbase_D0066:g.4487C>T protEffect R161X CFPbase_D0066:g.4487C>T mutType nonsense CFPbase_D0066:g.4565C>T protEffect Q187X CFPbase_D0066:g.4565C>T mutType nonsense CFPbase_D0066:g.4761C>G protEffect S206X CFPbase_D0066:g.4761C>G mutType nonsense CFPbase_D0066:g.4814_4815delTG protEffect C224X227 CFPbase_D0066:g.4814_4815delTG mutType frameshift CFPbase_D0066:g.5121_5128delGCCTTGGG protEffect G261X353 CFPbase_D0066:g.5121_5128delGCCTTGGG mutType frameshift CFPbase_D0066:g.5231G>T protEffect G298V CFPbase_D0066:g.5231G>T mutType missense CFPbase_D0066:g.5552T>G protEffect W321G CFPbase_D0066:g.5552T>G mutType missense CFPbase_D0066:g.5553G>C protEffect W321S CFPbase_D0066:g.5553G>C mutType missense CFPbase_D0066:g.5619A>G protEffect Q343R CFPbase_D0066:g.5619A>G mutType missense CFPbase_D0066:g.5627C>T protEffect R346C CFPbase_D0066:g.5627C>T mutType missense CIITAbase_D0058:g.31469G>T protEffect E381X CIITAbase_D0058:g.31469G>T mutType nonsense CIITAbase_D0058:g.47354G>A protEffect 1078_1106delinsE CIITAbase_D0058:g.47354G>A mutType inframe CIITAbase_D0058:g.31734T>C protEffect L469P CIITAbase_D0058:g.31734T>C mutType missense CIITAbase_D0058:g.32391G>A protEffect W688X CIITAbase_D0058:g.32391G>A mutType nonsense CIITAbase_D0058:g.35092T>C protEffect F962S CIITAbase_D0058:g.35092T>C mutType missense CIITAbase_D0058:g.43309_43311delCAT protEffect 1026_1027delinsN CIITAbase_D0058:g.43309_43311delCAT mutType inframe CIITAbase_D0058:g.47109_47120del protEffect 1050_1078delinsS CIITAbase_D0058:g.47109_47120del mutType inframe CTSCbase_D0022:g.1119delG protEffect L7X64 CTSCbase_D0022:g.1119delG mutType frameshift CTSCbase_D0022:g.1170C>A protEffect C24X CTSCbase_D0022:g.1170C>A mutType nonsense CTSCbase_D0022:g.26313G>A protEffect G139R CTSCbase_D0022:g.26313G>A mutType missense CTSCbase_D0022:g.1188C>A protEffect C30X CTSCbase_D0022:g.1188C>A mutType nonsense CTSCbase_D0022:g.1194T>G protEffect Y32X CTSCbase_D0022:g.1194T>G mutType nonsense CTSCbase_D0022:g.26278A>C protEffect H127P CTSCbase_D0022:g.26278A>C mutType missense CTSCbase_D0022:g.42564G>C protEffect R272P CTSCbase_D0022:g.42564G>C mutType missense CTSCbase_D0022:g.1211_1214delCCTG protEffect T38X63 CTSCbase_D0022:g.1211_1214delCCTG mutType frameshift CTSCbase_D0022:g.42600G>A protEffect S284N CTSCbase_D0022:g.42600G>A mutType missense CTSCbase_D0022:g.1214G>C protEffect W39S CTSCbase_D0022:g.1214G>C mutType missense CTSCbase_D0022:g.1243C>T protEffect Q49X CTSCbase_D0022:g.1243C>T mutType nonsense CTSCbase_D0022:g.3715_3738del protEffect Y67_A74del CTSCbase_D0022:g.3715_3738del mutType inframe CTSCbase_D0022:g.3721C>T protEffect Q69X CTSCbase_D0022:g.3721C>T mutType nonsense CTSCbase_D0022:g.26220A>T protEffect K108X CTSCbase_D0022:g.26220A>T mutType nonsense CTSCbase_D0022:g.26334delT protEffect S146X175 CTSCbase_D0022:g.26334delT mutType frameshift CTSCbase_D0022:g.29533_29539delCATACAT protEffect 189_191delins11 CTSCbase_D0022:g.29533_29539delCATACAT mutType frameshift CTSCbase_D0022:g.29595C>T protEffect R210X CTSCbase_D0022:g.29595C>T mutType nonsense CTSCbase_D0022:g.38241G>A protEffect A253X282 CTSCbase_D0022:g.38241G>A mutType splicing CTSCbase_D0022:g.42603C>T protEffect P285L CTSCbase_D0022:g.42603C>T mutType missense CTSCbase_D0022:g.44263G>T protEffect G297V CTSCbase_D0022:g.44263G>T mutType missense CTSCbase_D0022:g.44296G>A protEffect G308E CTSCbase_D0022:g.44296G>A mutType missense CTSCbase_D0022:g.44274G>A protEffect G301S CTSCbase_D0022:g.44274G>A mutType missense CTSCbase_D0022:g.44529G>C protEffect G386R CTSCbase_D0022:g.44529G>C mutType missense CTSCbase_D0022:g.44514delC protEffect L381X393 CTSCbase_D0022:g.44514delC mutType frameshift CTSCbase_D0022:g.38190G>T protEffect D236Y CTSCbase_D0022:g.38190G>T mutType missense CTSCbase_D0022:g.42527T>C protEffect S260P CTSCbase_D0022:g.42527T>C mutType missense CTSCbase_D0022:g.26342_26343insATGT protEffect V149X158 CTSCbase_D0022:g.26342_26343insATGT mutType frameshift CTSCbase_D0022:g.29522G>A protEffect W185X CTSCbase_D0022:g.29522G>A mutType nonsense CTSCbase_D0022:g.29554T>C protEffect L196P CTSCbase_D0022:g.29554T>C mutType missense CTSCbase_D0022:g.29589dupC protEffect H208X223 CTSCbase_D0022:g.29589dupC mutType frameshift CTSCbase_D0022:g.29596_29597delGA protEffect R210X222 CTSCbase_D0022:g.29596_29597delGA mutType frameshift CTSCbase_D0022:g.38188G>A protEffect W235X CTSCbase_D0022:g.38188G>A mutType nonsense CTSCbase_D0022:g.42621G>A protEffect C291Y CTSCbase_D0022:g.42621G>A mutType missense CTSCbase_D0022:g.38229G>T protEffect V249F CTSCbase_D0022:g.38229G>T mutType missense CTSCbase_D0022:g.38232C>T protEffect R250X CTSCbase_D0022:g.38232C>T mutType nonsense CTSCbase_D0022:g.38239A>T protEffect Q252L CTSCbase_D0022:g.38239A>T mutType missense CTSCbase_D0022:g.42564G>A protEffect R272H CTSCbase_D0022:g.42564G>A mutType missense CTSCbase_D0022:g.44608A>G protEffect Y412C CTSCbase_D0022:g.44608A>G mutType missense CTSCbase_D0022:g.42606A>G protEffect Q286R CTSCbase_D0022:g.42606A>G mutType missense CTSCbase_D0022:g.42605C>T protEffect Q286X CTSCbase_D0022:g.42605C>T mutType nonsense CTSCbase_D0022:g.42629T>C protEffect Y294H CTSCbase_D0022:g.42629T>C mutType missense CTSCbase_D0022:g.44271G>A protEffect G300S CTSCbase_D0022:g.44271G>A mutType missense CTSCbase_D0022:g.44713A>G protEffect E447G CTSCbase_D0022:g.44713A>G mutType missense CTSCbase_D0022:g.44275G>T protEffect G301V CTSCbase_D0022:g.44275G>T mutType missense CTSCbase_D0022:g.44283T>A protEffect Y304N CTSCbase_D0022:g.44283T>A mutType missense CTSCbase_D0022:g.44285C>A protEffect Y304X CTSCbase_D0022:g.44285C>A mutType nonsense CTSCbase_D0022:g.44308A>G protEffect Q312R CTSCbase_D0022:g.44308A>G mutType missense CTSCbase_D0022:g.44320T>G protEffect L316R CTSCbase_D0022:g.44320T>G mutType missense CTSCbase_D0022:g.44641G>C protEffect W423S CTSCbase_D0022:g.44641G>C mutType missense CTSCbase_D0022:g.44329A>G protEffect E319G CTSCbase_D0022:g.44329A>G mutType missense CTSCbase_D0022:g.44357_44363delTTCTCCA protEffect D328X331 CTSCbase_D0022:g.44357_44363delTTCTCCA mutType frameshift CTSCbase_D0022:g.44388C>T protEffect R339C CTSCbase_D0022:g.44388C>T mutType missense CTSCbase_D0022:g.44401_44402delCT protEffect S343X CTSCbase_D0022:g.44401_44402delCT mutType nonsense CTSCbase_D0022:g.44413A>G protEffect Y347C CTSCbase_D0022:g.44413A>G mutType missense CTSCbase_D0022:g.44420delA protEffect 349_349delins11 CTSCbase_D0022:g.44420delA mutType frameshift CTSCbase_D0022:g.44429delT protEffect Y352X CTSCbase_D0022:g.44429delT mutType nonsense CTSCbase_D0022:g.44660G>C protEffect W429C CTSCbase_D0022:g.44660G>C mutType missense CTSCbase_D0022:g.44586C>A protEffect H405N CTSCbase_D0022:g.44586C>A mutType missense CTSCbase_D0022:g.44587A>G protEffect H405R CTSCbase_D0022:g.44587A>G mutType missense CTSCbase_D0022:g.44586_44588delCAT protEffect H405del CTSCbase_D0022:g.44586_44588delCAT mutType inframe CTSCbase_D0022:g.44642G>A protEffect W423X CTSCbase_D0022:g.44642G>A mutType nonsense CTSCbase_D0022:g.44659G>A protEffect W429X CTSCbase_D0022:g.44659G>A mutType nonsense CXCR4base_D0023:g.4169C>T protEffect R334X CXCR4base_D0023:g.4169C>T mutType nonsense CXCR4base_D0023:g.4175G>T protEffect G336X CXCR4base_D0023:g.4175G>T mutType nonsense CXCR4base_D0023:g.4182C>G protEffect S338X CXCR4base_D0023:g.4182C>G mutType nonsense CXCR4base_D0023:g.4185_4186delCT protEffect S339X342 CXCR4base_D0023:g.4185_4186delCT mutType frameshift CXCR4base_D0023:g.4190delT protEffect S341X365 CXCR4base_D0023:g.4190delT mutType frameshift CXCR4base_D0023:g.4196G>T protEffect E343X CXCR4base_D0023:g.4196G>T mutType nonsense CYBAbase_D0024:g.1030T>A protEffect M1K CYBAbase_D0024:g.1030T>A mutType missense CYBAbase_D0024:g.1035C>T protEffect Q3X CYBAbase_D0024:g.1035C>T mutType nonsense CYBAbase_D0024:g.1054G>A protEffect W9X CYBAbase_D0024:g.1054G>A mutType nonsense CYBAbase_D0024:g.3943G>T protEffect G25V CYBAbase_D0024:g.3943G>T mutType missense CYBAbase_D0024:g.1055G>A protEffect W9X CYBAbase_D0024:g.1055G>A mutType nonsense CYBAbase_D0024:g.3940G>A protEffect G24E CYBAbase_D0024:g.3940G>A mutType missense CYBAbase_D0024:g.3939G>A protEffect G24R CYBAbase_D0024:g.3939G>A mutType missense CYBAbase_D0024:g.3976G>A protEffect W36X CYBAbase_D0024:g.3976G>A mutType nonsense CYBAbase_D0024:g.8472C>T protEffect A124V CYBAbase_D0024:g.8472C>T mutType missense CYBAbase_D0024:g.4890T>A protEffect L51Q CYBAbase_D0024:g.4890T>A mutType missense CYBAbase_D0024:g.4893T>C protEffect L52P CYBAbase_D0024:g.4893T>C mutType missense CYBAbase_D0024:g.4896A>T protEffect E53V CYBAbase_D0024:g.4896A>T mutType missense CYBAbase_D0024:g.4909dupG protEffect K58X212 CYBAbase_D0024:g.4909dupG mutType frameshift CYBAbase_D0024:g.4902C>G protEffect P55R CYBAbase_D0024:g.4902C>G mutType missense CYBAbase_D0024:g.4904dupC protEffect R56X212 CYBAbase_D0024:g.4904dupC mutType frameshift CYBAbase_D0024:g.5268C>T protEffect R90W CYBAbase_D0024:g.5268C>T mutType missense CYBAbase_D0024:g.4909delG protEffect G57X73 CYBAbase_D0024:g.4909delG mutType frameshift CYBAbase_D0024:g.4912delG protEffect K58X73 CYBAbase_D0024:g.4912delG mutType frameshift CYBAbase_D0024:g.5223delG protEffect A75X77 CYBAbase_D0024:g.5223delG mutType frameshift CYBAbase_D0024:g.5246delC protEffect P82X190 CYBAbase_D0024:g.5246delC mutType frameshift CYBAbase_D0024:g.5269G>A protEffect R90Q CYBAbase_D0024:g.5269G>A mutType missense CYBAbase_D0024:g.5261C>G protEffect Y87X CYBAbase_D0024:g.5261C>G mutType nonsense CYBAbase_D0024:g.5261C>A protEffect Y87X CYBAbase_D0024:g.5261C>A mutType nonsense CYBAbase_D0024:g.5268C>G protEffect R90G CYBAbase_D0024:g.5268C>G mutType missense CYBAbase_D0024:g.5269G>C protEffect R90P CYBAbase_D0024:g.5269G>C mutType missense CYBAbase_D0024:g.5281A>G protEffect H94R CYBAbase_D0024:g.5281A>G mutType missense CYBAbase_D0024:g.5845G>T protEffect L96L CYBAbase_D0024:g.5845G>T mutType missense CYBAbase_D0024:g.5852_5858delGTGCCCG protEffect V99X188 CYBAbase_D0024:g.5852_5858delGTGCCCG mutType frameshift CYBAbase_D0024:g.5896C>A protEffect C113X CYBAbase_D0024:g.5896C>A mutType nonsense CYBAbase_D0024:g.5911C>A protEffect S118R CYBAbase_D0024:g.5911C>A mutType missense CYBAbase_D0024:g.5926G>A protEffect L123L CYBAbase_D0024:g.5926G>A mutType missense CYBAbase_D0024:g.8471G>T protEffect A124S CYBAbase_D0024:g.8471G>T mutType missense CYBAbase_D0024:g.8474G>A protEffect A125T CYBAbase_D0024:g.8474G>A mutType missense CYBAbase_D0024:g.8486_8489delGAGC protEffect 129_130delins61 CYBAbase_D0024:g.8486_8489delGAGC mutType frameshift CYBAbase_D0024:g.8500delC protEffect P133X190 CYBAbase_D0024:g.8500delC mutType frameshift CYBAbase_D0024:g.8509delC protEffect P136X190 CYBAbase_D0024:g.8509delC mutType frameshift CYBAbase_D0024:g.8568C>A protEffect P156Q CYBAbase_D0024:g.8568C>A mutType missense CYBAbase_D0024:g.8573_8585del protEffect R158X186 CYBAbase_D0024:g.8573_8585del mutType frameshift CYBAbase_D0024:g.8672_8705del protEffect 191_202delins18 CYBAbase_D0024:g.8672_8705del mutType frameshift CYBAbase_D0024:g.5830_5865del protEffect L96X243 CYBAbase_D0024:g.5830_5865del mutType indel CYBBbase_D0025:g.3069_3071delinsGGT protEffect 30_31delinsXV CYBBbase_D0025:g.3069_3071delinsGGT mutType complex CYBBbase_D0025:g.12985_12986delinsAT protEffect 110_111delinsLY CYBBbase_D0025:g.12985_12986delinsAT mutType complex CYBBbase_D0025:g.16991_16992ins protEffect R198X227 CYBBbase_D0025:g.16991_16992ins mutType frameshift CYBBbase_D0025:g.27416_27423delinsTGTTGTA mutType frameshift CYBBbase_D0025:g.1016T>A protEffect M1K CYBBbase_D0025:g.1016T>A mutType missense CYBBbase_D0025:g.1016T>G protEffect M1R CYBBbase_D0025:g.1016T>G mutType missense CYBBbase_D0025:g.1015A>G protEffect M1V CYBBbase_D0025:g.1015A>G mutType missense CYBBbase_D0025:g.1020dupG protEffect N3X8 CYBBbase_D0025:g.1020dupG mutType frameshift CYBBbase_D0025:g.1022dupA protEffect N3X8 CYBBbase_D0025:g.1022dupA mutType frameshift CYBBbase_D0025:g.1026G>A protEffect W4X CYBBbase_D0025:g.1026G>A mutType nonsense CYBBbase_D0025:g.1025G>A protEffect W4X CYBBbase_D0025:g.1025G>A mutType nonsense CYBBbase_D0025:g.1028_1041del protEffect A5X29 CYBBbase_D0025:g.1028_1041del mutType frameshift CYBBbase_D0025:g.1041delG protEffect G9X21 CYBBbase_D0025:g.1041delG mutType frameshift CYBBbase_D0025:g.1040_1041dupAGGG protEffect G9X35 CYBBbase_D0025:g.1040_1041dupAGGG mutType frameshift CYBBbase_D0025:g.1041dupG protEffect L10X34 CYBBbase_D0025:g.1041dupG mutType frameshift CYBBbase_D0025:g.1054delG protEffect V14X21 CYBBbase_D0025:g.1054delG mutType frameshift CYBBbase_D0025:g.3026delT protEffect L16X21 CYBBbase_D0025:g.3026delT mutType frameshift CYBBbase_D0025:g.3024_3025insCATT protEffect L16X35 CYBBbase_D0025:g.3024_3025insCATT mutType frameshift CYBBbase_D0025:g.3028delG protEffect V17X21 CYBBbase_D0025:g.3028delG mutType frameshift CYBBbase_D0025:g.3033G>C protEffect W18C CYBBbase_D0025:g.3033G>C mutType missense CYBBbase_D0025:g.3032G>A protEffect W18X CYBBbase_D0025:g.3032G>A mutType nonsense CYBBbase_D0025:g.3031dupT protEffect W18X34 CYBBbase_D0025:g.3031dupT mutType frameshift CYBBbase_D0025:g.3037G>C protEffect G20R CYBBbase_D0025:g.3037G>C mutType missense CYBBbase_D0025:g.3037G>A protEffect G20R CYBBbase_D0025:g.3037G>A mutType missense CYBBbase_D0025:g.3045_3049delinsA protEffect N22X59 CYBBbase_D0025:g.3045_3049delinsA mutType frameshift CYBBbase_D0025:g.3046_3047dupAACG protEffect V23X35 CYBBbase_D0025:g.3046_3047dupAACG mutType frameshift CYBBbase_D0025:g.3059_3062delTCTG protEffect V27X59 CYBBbase_D0025:g.3059_3062delTCTG mutType frameshift CYBBbase_D0025:g.3063G>A protEffect W28X CYBBbase_D0025:g.3063G>A mutType nonsense CYBBbase_D0025:g.3062G>A protEffect W28X CYBBbase_D0025:g.3062G>A mutType nonsense CYBBbase_D0025:g.3064delT protEffect Y29X60 CYBBbase_D0025:g.3064delT mutType frameshift CYBBbase_D0025:g.3069C>A protEffect Y30X CYBBbase_D0025:g.3069C>A mutType nonsense CYBBbase_D0025:g.3071_3072insC protEffect R31X34 CYBBbase_D0025:g.3071_3072insC mutType frameshift CYBBbase_D0025:g.3073delG protEffect V32X60 CYBBbase_D0025:g.3073delG mutType frameshift CYBBbase_D0025:g.3078T>A protEffect Y33X CYBBbase_D0025:g.3078T>A mutType nonsense CYBBbase_D0025:g.3084delT protEffect I35X60 CYBBbase_D0025:g.3084delT mutType frameshift CYBBbase_D0025:g.3091A>T protEffect K38X CYBBbase_D0025:g.3091A>T mutType nonsense CYBBbase_D0025:g.3100T>G protEffect Y41D CYBBbase_D0025:g.3100T>G mutType missense CYBBbase_D0025:g.3100delT protEffect Y41X60 CYBBbase_D0025:g.3100delT mutType frameshift CYBBbase_D0025:g.3100_3101insT protEffect Y41X102 CYBBbase_D0025:g.3100_3101insT mutType frameshift CYBBbase_D0025:g.3104C>G protEffect T42R CYBBbase_D0025:g.3104C>G mutType missense CYBBbase_D0025:g.3105_3109delinsTTTC protEffect T42X60 CYBBbase_D0025:g.3105_3109delinsTTTC mutType frameshift CYBBbase_D0025:g.3106A>T protEffect R43X CYBBbase_D0025:g.3106A>T mutType nonsense CYBBbase_D0025:g.3113T>G protEffect L45R CYBBbase_D0025:g.3113T>G mutType missense CYBBbase_D0025:g.4428C>G protEffect S48X CYBBbase_D0025:g.4428C>G mutType nonsense CYBBbase_D0025:g.4427_4444delinsCCTGCCTGAATTTCT protEffect 48_53delinsPAXIS CYBBbase_D0025:g.4427_4444delinsCCTGCCTGAATTTCT mutType inframe CYBBbase_D0025:g.4427_4444delinsTTAATTT protEffect S48X50 CYBBbase_D0025:g.4427_4444delinsTTAATTT mutType frameshift CYBBbase_D0025:g.4443C>A protEffect A53D CYBBbase_D0025:g.4443C>A mutType missense CYBBbase_D0025:g.4444dupC protEffect R54X102 CYBBbase_D0025:g.4444dupC mutType frameshift CYBBbase_D0025:g.4445A>G protEffect R54G CYBBbase_D0025:g.4445A>G mutType missense CYBBbase_D0025:g.4446G>T protEffect R54M CYBBbase_D0025:g.4446G>T mutType missense CYBBbase_D0025:g.4447G>C protEffect R54S CYBBbase_D0025:g.4447G>C mutType missense CYBBbase_D0025:g.4445_4450delAGGGCC protEffect R54_A55del CYBBbase_D0025:g.4445_4450delAGGGCC mutType inframe CYBBbase_D0025:g.4449C>A protEffect A55D CYBBbase_D0025:g.4449C>A mutType missense CYBBbase_D0025:g.4452C>T protEffect P56L CYBBbase_D0025:g.4452C>T mutType missense CYBBbase_D0025:g.4455C>A protEffect A57E CYBBbase_D0025:g.4455C>A mutType missense CYBBbase_D0025:g.4461G>T protEffect C59F CYBBbase_D0025:g.4461G>T mutType missense CYBBbase_D0025:g.4460T>C protEffect C59R CYBBbase_D0025:g.4460T>C mutType missense CYBBbase_D0025:g.4462C>G protEffect C59W CYBBbase_D0025:g.4462C>G mutType missense CYBBbase_D0025:g.4461G>A protEffect C59Y CYBBbase_D0025:g.4461G>A mutType missense CYBBbase_D0025:g.4462C>A protEffect C59X CYBBbase_D0025:g.4462C>A mutType nonsense CYBBbase_D0025:g.4470delT protEffect F62X66 CYBBbase_D0025:g.4470delT mutType frameshift CYBBbase_D0025:g.4474C>G protEffect N63K CYBBbase_D0025:g.4474C>G mutType missense CYBBbase_D0025:g.4475T>C protEffect C64R CYBBbase_D0025:g.4475T>C mutType missense CYBBbase_D0025:g.4477C>A protEffect C64X CYBBbase_D0025:g.4477C>A mutType nonsense CYBBbase_D0025:g.4479T>G protEffect M65R CYBBbase_D0025:g.4479T>G mutType missense CYBBbase_D0025:g.4482T>C protEffect L66P CYBBbase_D0025:g.4482T>C mutType missense CYBBbase_D0025:g.4480dupG protEffect L66X102 CYBBbase_D0025:g.4480dupG mutType frameshift CYBBbase_D0025:g.4495dupA protEffect V71X102 CYBBbase_D0025:g.4495dupA mutType frameshift CYBBbase_D0025:g.4502C>T protEffect R73X CYBBbase_D0025:g.4502C>T mutType nonsense CYBBbase_D0025:g.4511delC protEffect L76X107 CYBBbase_D0025:g.4511delC mutType frameshift CYBBbase_D0025:g.4527delG protEffect G81X107 CYBBbase_D0025:g.4527delG mutType frameshift CYBBbase_D0025:g.4527dupG protEffect G81X102 CYBBbase_D0025:g.4527dupG mutType frameshift CYBBbase_D0025:g.4537G>A protEffect S48_A84del CYBBbase_D0025:g.4537G>A mutType inframe CYBBbase_D0025:g.4537G>T protEffect A84A CYBBbase_D0025:g.4537G>T mutType missense CYBBbase_D0025:g.4536delC protEffect A84X107 CYBBbase_D0025:g.4536delC mutType frameshift CYBBbase_D0025:g.12910C>A protEffect C85X CYBBbase_D0025:g.12910C>A mutType nonsense CYBBbase_D0025:g.12926C>T protEffect R91X CYBBbase_D0025:g.12926C>T mutType nonsense CYBBbase_D0025:g.12930delG protEffect R92X107 CYBBbase_D0025:g.12930delG mutType frameshift CYBBbase_D0025:g.12941_12945delAGGAA protEffect R96X100 CYBBbase_D0025:g.12941_12945delAGGAA mutType frameshift CYBBbase_D0025:g.12950delA protEffect T99X107 CYBBbase_D0025:g.12950delA mutType frameshift CYBBbase_D0025:g.12957A>G protEffect H101R CYBBbase_D0025:g.12957A>G mutType missense CYBBbase_D0025:g.12956C>T protEffect H101Y CYBBbase_D0025:g.12956C>T mutType missense CYBBbase_D0025:g.12973G>A protEffect W106X CYBBbase_D0025:g.12973G>A mutType nonsense CYBBbase_D0025:g.12975T>G protEffect M107R CYBBbase_D0025:g.12975T>G mutType missense CYBBbase_D0025:g.12976dupG protEffect I108X122 CYBBbase_D0025:g.12976dupG mutType frameshift CYBBbase_D0025:g.12981_12982delCA protEffect A109X121 CYBBbase_D0025:g.12981_12982delCA mutType frameshift CYBBbase_D0025:g.12985_12986delTC protEffect L110X121 CYBBbase_D0025:g.12985_12986delTC mutType frameshift CYBBbase_D0025:g.12989T>C protEffect S112P CYBBbase_D0025:g.12989T>C mutType missense CYBBbase_D0025:g.14599delG protEffect A113X127 CYBBbase_D0025:g.14599delG mutType frameshift CYBBbase_D0025:g.14605C>A protEffect H115Q CYBBbase_D0025:g.14605C>A mutType missense CYBBbase_D0025:g.14603C>T protEffect H115Y CYBBbase_D0025:g.14603C>T mutType missense CYBBbase_D0025:g.14614delA protEffect A118X127 CYBBbase_D0025:g.14614delA mutType frameshift CYBBbase_D0025:g.14616A>G protEffect H119R CYBBbase_D0025:g.14616A>G mutType missense CYBBbase_D0025:g.14616dupA protEffect H119X122 CYBBbase_D0025:g.14616dupA mutType frameshift CYBBbase_D0025:g.14619T>C protEffect L120P CYBBbase_D0025:g.14619T>C mutType missense CYBBbase_D0025:g.14620_14635del protEffect L120X122 CYBBbase_D0025:g.14620_14635del mutType frameshift CYBBbase_D0025:g.14630G>T protEffect E124X CYBBbase_D0025:g.14630G>T mutType nonsense CYBBbase_D0025:g.14635G>T protEffect W125C CYBBbase_D0025:g.14635G>T mutType missense CYBBbase_D0025:g.14635G>A protEffect W125X CYBBbase_D0025:g.14635G>A mutType nonsense CYBBbase_D0025:g.14634G>A protEffect W125X CYBBbase_D0025:g.14634G>A mutType nonsense CYBBbase_D0025:g.14645_14646dupAATG protEffect A129X134 CYBBbase_D0025:g.14645_14646dupAATG mutType frameshift CYBBbase_D0025:g.14649G>T protEffect R130L CYBBbase_D0025:g.14649G>T mutType missense CYBBbase_D0025:g.14649G>C protEffect R130P CYBBbase_D0025:g.14649G>C mutType missense CYBBbase_D0025:g.14648C>T protEffect R130X CYBBbase_D0025:g.14648C>T mutType nonsense CYBBbase_D0025:g.14648delC protEffect R130X139 CYBBbase_D0025:g.14648delC mutType frameshift CYBBbase_D0025:g.14648_14649insT protEffect R130X133 CYBBbase_D0025:g.14648_14649insT mutType frameshift CYBBbase_D0025:g.14654_14666del protEffect N132X135 CYBBbase_D0025:g.14654_14666del mutType frameshift CYBBbase_D0025:g.14658delA protEffect N133X139 CYBBbase_D0025:g.14658delA mutType frameshift CYBBbase_D0025:g.14671T>A protEffect Y137X CYBBbase_D0025:g.14671T>A mutType nonsense CYBBbase_D0025:g.14673C>A protEffect S138X CYBBbase_D0025:g.14673C>A mutType nonsense CYBBbase_D0025:g.14672_14678delTCAGTAG protEffect 138_140delins21 CYBBbase_D0025:g.14672_14678delTCAGTAG mutType frameshift CYBBbase_D0025:g.14682T>C protEffect L141P CYBBbase_D0025:g.14682T>C mutType missense CYBBbase_D0025:g.14684T>C protEffect S142P CYBBbase_D0025:g.14684T>C mutType missense CYBBbase_D0025:g.14702_14703delinsT protEffect Q148X CYBBbase_D0025:g.14702_14703delinsT mutType nonsense CYBBbase_D0025:g.14702C>T protEffect Q148X CYBBbase_D0025:g.14702C>T mutType nonsense CYBBbase_D0025:g.14706dupA protEffect N149X150 CYBBbase_D0025:g.14706dupA mutType frameshift CYBBbase_D0025:g.14708G>T protEffect E150X CYBBbase_D0025:g.14708G>T mutType nonsense CYBBbase_D0025:g.14710_14711delAA protEffect E150X163 CYBBbase_D0025:g.14710_14711delAA mutType frameshift CYBBbase_D0025:g.14716T>A protEffect Y152X CYBBbase_D0025:g.14716T>A mutType nonsense CYBBbase_D0025:g.14715_14716delAT protEffect Y152X163 CYBBbase_D0025:g.14715_14716delAT mutType frameshift CYBBbase_D0025:g.14718T>G protEffect L153R CYBBbase_D0025:g.14718T>G mutType missense CYBBbase_D0025:g.14721delA protEffect N154X160 CYBBbase_D0025:g.14721delA mutType frameshift CYBBbase_D0025:g.14726G>A protEffect A156T CYBBbase_D0025:g.14726G>A mutType missense CYBBbase_D0025:g.14729C>T protEffect R157X CYBBbase_D0025:g.14729C>T mutType nonsense CYBBbase_D0025:g.14732_14735delAAGA protEffect K158X159 CYBBbase_D0025:g.14732_14735delAAGA mutType frameshift CYBBbase_D0025:g.14735_14741delAGAATAA protEffect 159_161delins11 CYBBbase_D0025:g.14735_14741delAGAATAA mutType frameshift CYBBbase_D0025:g.14739dupT protEffect I160X164 CYBBbase_D0025:g.14739dupT mutType frameshift CYBBbase_D0025:g.14743G>T protEffect K161N CYBBbase_D0025:g.14743G>T mutType missense CYBBbase_D0025:g.14742A>G protEffect K161R CYBBbase_D0025:g.14742A>G mutType missense CYBBbase_D0025:g.16917delC protEffect L173X188 CYBBbase_D0025:g.16917delC mutType frameshift CYBBbase_D0025:g.16936G>A protEffect G179E CYBBbase_D0025:g.16936G>A mutType missense CYBBbase_D0025:g.16935G>A protEffect G179R CYBBbase_D0025:g.16935G>A mutType missense CYBBbase_D0025:g.16935G>T protEffect G179X CYBBbase_D0025:g.16935G>T mutType nonsense CYBBbase_D0025:g.16948_16959del protEffect 183_187delinsI CYBBbase_D0025:g.16948_16959del mutType inframe CYBBbase_D0025:g.16953T>C protEffect C185R CYBBbase_D0025:g.16953T>C mutType missense CYBBbase_D0025:g.16955C>A protEffect C185X CYBBbase_D0025:g.16955C>A mutType nonsense CYBBbase_D0025:g.16954delG protEffect C185X188 CYBBbase_D0025:g.16954delG mutType frameshift CYBBbase_D0025:g.16959_16967delATATTAATT protEffect I187_I189del CYBBbase_D0025:g.16959_16967delATATTAATT mutType inframe CYBBbase_D0025:g.16960_16961dupCCTCAT protEffect 187_187delinsILI CYBBbase_D0025:g.16960_16961dupCCTCAT mutType inframe CYBBbase_D0025:g.16965_16968delATTA protEffect I189X212 CYBBbase_D0025:g.16965_16968delATTA mutType frameshift CYBBbase_D0025:g.16978C>T protEffect S193F CYBBbase_D0025:g.16978C>T mutType missense CYBBbase_D0025:g.16977T>C protEffect S193P CYBBbase_D0025:g.16977T>C mutType missense CYBBbase_D0025:g.16981_16982dupTTCCTCCAC protEffect 194_194delinsTSST CYBBbase_D0025:g.16981_16982dupTTCCTCCAC mutType inframe CYBBbase_D0025:g.16982_16983insAAAACA protEffect 194_195insKT CYBBbase_D0025:g.16982_16983insAAAACA mutType inframe CYBBbase_D0025:g.16992delC protEffect R198X213 CYBBbase_D0025:g.16992delC mutType frameshift CYBBbase_D0025:g.16995delA protEffect R199X213 CYBBbase_D0025:g.16995delA mutType frameshift CYBBbase_D0025:g.16996_16997insGTCTTACT protEffect R199X216 CYBBbase_D0025:g.16996_16997insGTCTTACT mutType frameshift CYBBbase_D0025:g.17003C>G protEffect Y201X CYBBbase_D0025:g.17003C>G mutType nonsense CYBBbase_D0025:g.17003delC protEffect Y201X213 CYBBbase_D0025:g.17003delC mutType frameshift CYBBbase_D0025:g.17006_17008delinsGG protEffect F202X213 CYBBbase_D0025:g.17006_17008delinsGG mutType frameshift CYBBbase_D0025:g.17007G>T protEffect E203X CYBBbase_D0025:g.17007G>T mutType nonsense CYBBbase_D0025:g.17013T>A protEffect F205I CYBBbase_D0025:g.17013T>A mutType missense CYBBbase_D0025:g.17014_17032del protEffect F205X207 CYBBbase_D0025:g.17014_17032del mutType frameshift CYBBbase_D0025:g.17018G>A protEffect W206X CYBBbase_D0025:g.17018G>A mutType nonsense CYBBbase_D0025:g.17021C>A protEffect Y207X CYBBbase_D0025:g.17021C>A mutType nonsense CYBBbase_D0025:g.17027T>A protEffect H209Q CYBBbase_D0025:g.17027T>A mutType missense CYBBbase_D0025:g.17026A>G protEffect H209R CYBBbase_D0025:g.17026A>G mutType missense CYBBbase_D0025:g.17025C>T protEffect H209Y CYBBbase_D0025:g.17025C>T mutType missense CYBBbase_D0025:g.17025_17026delCA protEffect H209X224 CYBBbase_D0025:g.17025_17026delCA mutType frameshift CYBBbase_D0025:g.17032T>C protEffect L211P CYBBbase_D0025:g.17032T>C mutType missense CYBBbase_D0025:g.17032T>G protEffect L211R CYBBbase_D0025:g.17032T>G mutType missense CYBBbase_D0025:g.17031_17032dupCATC protEffect L211X226 CYBBbase_D0025:g.17031_17032dupCATC mutType frameshift CYBBbase_D0025:g.17036delT protEffect F212X213 CYBBbase_D0025:g.17036delT mutType frameshift CYBBbase_D0025:g.17046_17048delTTC protEffect F216del CYBBbase_D0025:g.17046_17048delTTC mutType inframe CYBBbase_D0025:g.17065A>T protEffect H222L CYBBbase_D0025:g.17065A>T mutType missense CYBBbase_D0025:g.17064C>A protEffect H222N CYBBbase_D0025:g.17064C>A mutType missense CYBBbase_D0025:g.17065A>G protEffect H222R CYBBbase_D0025:g.17065A>G mutType missense CYBBbase_D0025:g.17064C>T protEffect H222Y CYBBbase_D0025:g.17064C>T mutType missense CYBBbase_D0025:g.17067_17068delinsTT protEffect G223L CYBBbase_D0025:g.17067_17068delinsTT mutType missense CYBBbase_D0025:g.17067G>T protEffect G223X CYBBbase_D0025:g.17067G>T mutType nonsense CYBBbase_D0025:g.17071C>G protEffect A224G CYBBbase_D0025:g.17071C>G mutType missense CYBBbase_D0025:g.17074A>T protEffect E225V CYBBbase_D0025:g.17074A>T mutType missense CYBBbase_D0025:g.19889C>T protEffect R226X CYBBbase_D0025:g.19889C>T mutType nonsense CYBBbase_D0025:g.19904C>T protEffect Q231X CYBBbase_D0025:g.19904C>T mutType nonsense CYBBbase_D0025:g.19913G>T protEffect E234X CYBBbase_D0025:g.19913G>T mutType nonsense CYBBbase_D0025:g.19916_19917delAG protEffect S235X239 CYBBbase_D0025:g.19916_19917delAG mutType frameshift CYBBbase_D0025:g.19926delT protEffect V238X241 CYBBbase_D0025:g.19926delT mutType frameshift CYBBbase_D0025:g.19929_19933delATAAT protEffect H239X243 CYBBbase_D0025:g.19929_19933delATAAT mutType frameshift CYBBbase_D0025:g.19943T>G protEffect C244G CYBBbase_D0025:g.19943T>G mutType missense CYBBbase_D0025:g.19943T>C protEffect C244R CYBBbase_D0025:g.19943T>C mutType missense CYBBbase_D0025:g.19944G>C protEffect C244S CYBBbase_D0025:g.19944G>C mutType missense CYBBbase_D0025:g.19943T>A protEffect C244S CYBBbase_D0025:g.19943T>A mutType missense CYBBbase_D0025:g.19944G>A protEffect C244Y CYBBbase_D0025:g.19944G>A mutType missense CYBBbase_D0025:g.19945T>A protEffect C244X CYBBbase_D0025:g.19945T>A mutType nonsense CYBBbase_D0025:g.19946G>T protEffect E245X CYBBbase_D0025:g.19946G>T mutType nonsense CYBBbase_D0025:g.19949C>T protEffect Q246X CYBBbase_D0025:g.19949C>T mutType nonsense CYBBbase_D0025:g.19951_19952delinsT protEffect Q246X254 CYBBbase_D0025:g.19951_19952delinsT mutType frameshift CYBBbase_D0025:g.19955dupA protEffect I248X283 CYBBbase_D0025:g.19955dupA mutType frameshift CYBBbase_D0025:g.19965G>A protEffect W251X CYBBbase_D0025:g.19965G>A mutType nonsense CYBBbase_D0025:g.19967G>T protEffect G252X CYBBbase_D0025:g.19967G>T mutType nonsense CYBBbase_D0025:g.19968delG protEffect G252X254 CYBBbase_D0025:g.19968delG mutType frameshift CYBBbase_D0025:g.19968_19969delGA protEffect 252_252delins31 CYBBbase_D0025:g.19968_19969delGA mutType frameshift CYBBbase_D0025:g.19973dupA protEffect I254X283 CYBBbase_D0025:g.19973dupA mutType frameshift CYBBbase_D0025:g.19982T>C protEffect C257R CYBBbase_D0025:g.19982T>C mutType missense CYBBbase_D0025:g.19984C>A protEffect C257X CYBBbase_D0025:g.19984C>A mutType nonsense CYBBbase_D0025:g.19984delC protEffect C257X268 CYBBbase_D0025:g.19984delC mutType frameshift CYBBbase_D0025:g.19992C>G protEffect P260R CYBBbase_D0025:g.19992C>G mutType missense CYBBbase_D0025:g.19994C>T protEffect Q261X CYBBbase_D0025:g.19994C>T mutType nonsense CYBBbase_D0025:g.19994_19995delCA protEffect Q261X282 CYBBbase_D0025:g.19994_19995delCA mutType frameshift CYBBbase_D0025:g.19998_19999ins protEffect 262_262delinsFAGNPPMV CYBBbase_D0025:g.19998_19999ins mutType inframe CYBBbase_D0025:g.20001delC protEffect A263X268 CYBBbase_D0025:g.20001delC mutType frameshift CYBBbase_D0025:g.20010delC protEffect P266X268 CYBBbase_D0025:g.20010delC mutType frameshift CYBBbase_D0025:g.20012_20013insAA protEffect P267X269 CYBBbase_D0025:g.20012_20013insAA mutType frameshift CYBBbase_D0025:g.22194G>A protEffect W270X CYBBbase_D0025:g.22194G>A mutType nonsense CYBBbase_D0025:g.22195A>T protEffect K271X CYBBbase_D0025:g.22195A>T mutType nonsense CYBBbase_D0025:g.22200G>A protEffect W272X CYBBbase_D0025:g.22200G>A mutType nonsense CYBBbase_D0025:g.22215_22237del protEffect M277X339 CYBBbase_D0025:g.22215_22237del mutType frameshift CYBBbase_D0025:g.22224T>A protEffect Y280X CYBBbase_D0025:g.22224T>A mutType nonsense CYBBbase_D0025:g.22228_22258del protEffect 282_292delins21 CYBBbase_D0025:g.22228_22258del mutType frameshift CYBBbase_D0025:g.22229dupG protEffect C282X283 CYBBbase_D0025:g.22229dupG mutType frameshift CYBBbase_D0025:g.22251G>A protEffect W289X CYBBbase_D0025:g.22251G>A mutType nonsense CYBBbase_D0025:g.22252C>T protEffect R290X CYBBbase_D0025:g.22252C>T mutType nonsense CYBBbase_D0025:g.22254_22263del protEffect R290X309 CYBBbase_D0025:g.22254_22263del mutType frameshift CYBBbase_D0025:g.22271_22272dupGTGGT protEffect V296X314 CYBBbase_D0025:g.22271_22272dupGTGGT mutType frameshift CYBBbase_D0025:g.22278delC protEffect T298X312 CYBBbase_D0025:g.22278delC mutType frameshift CYBBbase_D0025:g.22281G>A protEffect K299K CYBBbase_D0025:g.22281G>A mutType missense CYBBbase_D0025:g.22281G>T protEffect K299N CYBBbase_D0025:g.22281G>T mutType missense CYBBbase_D0025:g.24823C>A protEffect H303N CYBBbase_D0025:g.24823C>A mutType missense CYBBbase_D0025:g.24827C>G protEffect P304R CYBBbase_D0025:g.24827C>G mutType missense CYBBbase_D0025:g.24820A>C protEffect T302P CYBBbase_D0025:g.24820A>C mutType missense CYBBbase_D0025:g.24822_24825delTCAC protEffect T302X311 CYBBbase_D0025:g.24822_24825delTCAC mutType frameshift CYBBbase_D0025:g.24819dupC protEffect T302X347 CYBBbase_D0025:g.24819dupC mutType frameshift CYBBbase_D0025:g.24825C>A protEffect H303Q CYBBbase_D0025:g.24825C>A mutType missense CYBBbase_D0025:g.24823C>T protEffect H303Y CYBBbase_D0025:g.24823C>T mutType missense CYBBbase_D0025:g.24827C>T protEffect P304L CYBBbase_D0025:g.24827C>T mutType missense CYBBbase_D0025:g.24831delC protEffect F305X312 CYBBbase_D0025:g.24831delC mutType frameshift CYBBbase_D0025:g.24832A>T protEffect K306X CYBBbase_D0025:g.24832A>T mutType nonsense CYBBbase_D0025:g.24835A>C protEffect T307P CYBBbase_D0025:g.24835A>C mutType missense CYBBbase_D0025:g.24835delA protEffect T307X312 CYBBbase_D0025:g.24835delA mutType frameshift CYBBbase_D0025:g.24838_24839insTCCTTTCA protEffect I308X315 CYBBbase_D0025:g.24838_24839insTCCTTTCA mutType frameshift CYBBbase_D0025:g.24851_24853delTGA protEffect 312_313delinsK CYBBbase_D0025:g.24851_24853delTGA mutType inframe CYBBbase_D0025:g.24838_24839insGTTTC protEffect I308X314 CYBBbase_D0025:g.24838_24839insGTTTC mutType frameshift CYBBbase_D0025:g.24841G>A protEffect E309K CYBBbase_D0025:g.24841G>A mutType missense CYBBbase_D0025:g.24841G>T protEffect E309X CYBBbase_D0025:g.24841G>T mutType nonsense CYBBbase_D0025:g.24845T>C protEffect L310P CYBBbase_D0025:g.24845T>C mutType missense CYBBbase_D0025:g.24847delC protEffect Q311X312 CYBBbase_D0025:g.24847delC mutType frameshift CYBBbase_D0025:g.24851T>A protEffect M312K CYBBbase_D0025:g.24851T>A mutType missense CYBBbase_D0025:g.24851T>G protEffect M312R CYBBbase_D0025:g.24851T>G mutType missense CYBBbase_D0025:g.24859_24861delAAG protEffect K315del CYBBbase_D0025:g.24859_24861delAAG mutType inframe CYBBbase_D0025:g.24864delG protEffect G316X342 CYBBbase_D0025:g.24864delG mutType frameshift CYBBbase_D0025:g.24874G>T protEffect E320X CYBBbase_D0025:g.24874G>T mutType nonsense CYBBbase_D0025:g.24876delA protEffect E320X342 CYBBbase_D0025:g.24876delA mutType frameshift CYBBbase_D0025:g.24874delG protEffect E320X342 CYBBbase_D0025:g.24874delG mutType frameshift CYBBbase_D0025:g.24878T>G protEffect V321G CYBBbase_D0025:g.24878T>G mutType missense CYBBbase_D0025:g.24881G>A protEffect G322E CYBBbase_D0025:g.24881G>A mutType missense CYBBbase_D0025:g.24881delG protEffect 322_322delins21 CYBBbase_D0025:g.24881delG mutType frameshift CYBBbase_D0025:g.24883C>T protEffect Q323X CYBBbase_D0025:g.24883C>T mutType nonsense CYBBbase_D0025:g.24888C>A protEffect Y324X CYBBbase_D0025:g.24888C>A mutType nonsense CYBBbase_D0025:g.24889A>T protEffect I325F CYBBbase_D0025:g.24889A>T mutType missense CYBBbase_D0025:g.24895delG protEffect V327X342 CYBBbase_D0025:g.24895delG mutType frameshift CYBBbase_D0025:g.24897_24901delCAAGT protEffect V327X345 CYBBbase_D0025:g.24897_24901delCAAGT mutType frameshift CYBBbase_D0025:g.24901T>C protEffect C329R CYBBbase_D0025:g.24901T>C mutType missense CYBBbase_D0025:g.24908_24913delinsGGGGG protEffect K331X342 CYBBbase_D0025:g.24908_24913delinsGGGGG mutType frameshift CYBBbase_D0025:g.24910delG protEffect 332_332delins11 CYBBbase_D0025:g.24910delG mutType frameshift CYBBbase_D0025:g.24913T>C protEffect S333P CYBBbase_D0025:g.24913T>C mutType missense CYBBbase_D0025:g.24922G>T protEffect E336X CYBBbase_D0025:g.24922G>T mutType nonsense CYBBbase_D0025:g.24926G>A protEffect W337X CYBBbase_D0025:g.24926G>A mutType nonsense CYBBbase_D0025:g.24927G>A protEffect W337X CYBBbase_D0025:g.24927G>A mutType nonsense CYBBbase_D0025:g.24928C>A protEffect H338N CYBBbase_D0025:g.24928C>A mutType missense CYBBbase_D0025:g.24930C>A protEffect H338Q CYBBbase_D0025:g.24930C>A mutType missense CYBBbase_D0025:g.24929A>G protEffect H338R CYBBbase_D0025:g.24929A>G mutType missense CYBBbase_D0025:g.24928C>T protEffect H338Y CYBBbase_D0025:g.24928C>T mutType missense CYBBbase_D0025:g.24932C>A protEffect P339H CYBBbase_D0025:g.24932C>A mutType missense CYBBbase_D0025:g.24932C>T protEffect P339L CYBBbase_D0025:g.24932C>T mutType missense CYBBbase_D0025:g.24932delC protEffect P339X342 CYBBbase_D0025:g.24932delC mutType frameshift CYBBbase_D0025:g.24932dupC protEffect P339X347 CYBBbase_D0025:g.24932dupC mutType frameshift CYBBbase_D0025:g.24938C>T protEffect T341I CYBBbase_D0025:g.24938C>T mutType missense CYBBbase_D0025:g.24938C>A protEffect T341K CYBBbase_D0025:g.24938C>A mutType missense CYBBbase_D0025:g.24941T>A protEffect L342Q CYBBbase_D0025:g.24941T>A mutType missense CYBBbase_D0025:g.24943A>C protEffect T343P CYBBbase_D0025:g.24943A>C mutType missense CYBBbase_D0025:g.24947C>T protEffect S344F CYBBbase_D0025:g.24947C>T mutType missense CYBBbase_D0025:g.24946T>C protEffect S344P CYBBbase_D0025:g.24946T>C mutType missense CYBBbase_D0025:g.24948delC protEffect S344X385 CYBBbase_D0025:g.24948delC mutType frameshift CYBBbase_D0025:g.24946_24947insCT protEffect S344X386 CYBBbase_D0025:g.24946_24947insCT mutType frameshift CYBBbase_D0025:g.24954delT protEffect P346X385 CYBBbase_D0025:g.24954delT mutType frameshift CYBBbase_D0025:g.24977A>C protEffect H354P CYBBbase_D0025:g.24977A>C mutType missense CYBBbase_D0025:g.24977A>G protEffect H354R CYBBbase_D0025:g.24977A>G mutType missense CYBBbase_D0025:g.24978_24987del protEffect H354X382 CYBBbase_D0025:g.24978_24987del mutType frameshift CYBBbase_D0025:g.24979_24986delATCCGCAT protEffect I355X369 CYBBbase_D0025:g.24979_24986delATCCGCAT mutType frameshift CYBBbase_D0025:g.24979delA protEffect 355_355delins31 CYBBbase_D0025:g.24979delA mutType frameshift CYBBbase_D0025:g.24983G>C protEffect R356P CYBBbase_D0025:g.24983G>C mutType missense CYBBbase_D0025:g.24992G>C protEffect G359A CYBBbase_D0025:g.24992G>C mutType missense CYBBbase_D0025:g.24991G>A protEffect G359R CYBBbase_D0025:g.24991G>A mutType missense CYBBbase_D0025:g.24992G>T protEffect G359V CYBBbase_D0025:g.24992G>T mutType missense CYBBbase_D0025:g.24997T>C protEffect W361R CYBBbase_D0025:g.24997T>C mutType missense CYBBbase_D0025:g.24999G>A protEffect W361X CYBBbase_D0025:g.24999G>A mutType nonsense CYBBbase_D0025:g.24998G>A protEffect W361X CYBBbase_D0025:g.24998G>A mutType nonsense CYBBbase_D0025:g.25001C>T protEffect T362I CYBBbase_D0025:g.25001C>T mutType missense CYBBbase_D0025:g.25001C>G protEffect T362R CYBBbase_D0025:g.25001C>G mutType missense CYBBbase_D0025:g.25010T>C protEffect L365P CYBBbase_D0025:g.25010T>C mutType missense CYBBbase_D0025:g.25011delG protEffect 365_365delins21 CYBBbase_D0025:g.25011delG mutType frameshift CYBBbase_D0025:g.25010dupT protEffect L365X372 CYBBbase_D0025:g.25010dupT mutType frameshift CYBBbase_D0025:g.25021T>C protEffect C369R CYBBbase_D0025:g.25021T>C mutType missense CYBBbase_D0025:g.25036C>T protEffect Q374X CYBBbase_D0025:g.25036C>T mutType nonsense CYBBbase_D0025:g.25039G>T protEffect E375X CYBBbase_D0025:g.25039G>T mutType nonsense CYBBbase_D0025:g.25045C>T protEffect Q377X CYBBbase_D0025:g.25045C>T mutType nonsense CYBBbase_D0025:g.25052dupC protEffect A379X384 CYBBbase_D0025:g.25052dupC mutType frameshift CYBBbase_D0025:g.25055G>A protEffect W380X CYBBbase_D0025:g.25055G>A mutType nonsense CYBBbase_D0025:g.25056G>A protEffect W380X CYBBbase_D0025:g.25056G>A mutType nonsense CYBBbase_D0025:g.25060_25061insAGGT protEffect L382X385 CYBBbase_D0025:g.25060_25061insAGGT mutType frameshift CYBBbase_D0025:g.25063_25066delCCTA protEffect P383X384 CYBBbase_D0025:g.25063_25066delCCTA mutType frameshift CYBBbase_D0025:g.25945T>G protEffect I385R CYBBbase_D0025:g.25945T>G mutType missense CYBBbase_D0025:g.25954delA protEffect D388X404 CYBBbase_D0025:g.25954delA mutType frameshift CYBBbase_D0025:g.25957G>C protEffect G389A CYBBbase_D0025:g.25957G>C mutType missense CYBBbase_D0025:g.25957G>A protEffect G389E CYBBbase_D0025:g.25957G>A mutType missense CYBBbase_D0025:g.25956G>A protEffect G389R CYBBbase_D0025:g.25956G>A mutType missense CYBBbase_D0025:g.25957G>T protEffect G389V CYBBbase_D0025:g.25957G>T mutType missense CYBBbase_D0025:g.25958delG protEffect G389X404 CYBBbase_D0025:g.25958delG mutType frameshift CYBBbase_D0025:g.25957_25961delinsTGTTCAGC protEffect 389_390delinsVFS CYBBbase_D0025:g.25957_25961delinsTGTTCAGC mutType inframe CYBBbase_D0025:g.25960C>T protEffect P390L CYBBbase_D0025:g.25960C>T mutType missense CYBBbase_D0025:g.25968delA protEffect T393X404 CYBBbase_D0025:g.25968delA mutType frameshift CYBBbase_D0025:g.25971_25973delins protEffect 394_394delinsMXXTH CYBBbase_D0025:g.25971_25973delins mutType inframe CYBBbase_D0025:g.25977_25986del protEffect E396X401 CYBBbase_D0025:g.25977_25986del mutType frameshift CYBBbase_D0025:g.25981_25982delAT protEffect D397X401 CYBBbase_D0025:g.25981_25982delAT mutType frameshift CYBBbase_D0025:g.26014G>A protEffect G408E CYBBbase_D0025:g.26014G>A mutType missense CYBBbase_D0025:g.26013G>A protEffect G408R CYBBbase_D0025:g.26013G>A mutType missense CYBBbase_D0025:g.26013G>C protEffect G408R CYBBbase_D0025:g.26013G>C mutType missense CYBBbase_D0025:g.26026G>A protEffect G412E CYBBbase_D0025:g.26026G>A mutType missense CYBBbase_D0025:g.26025G>A protEffect G412R CYBBbase_D0025:g.26025G>A mutType missense CYBBbase_D0025:g.26025G>C protEffect G412R CYBBbase_D0025:g.26025G>C mutType missense CYBBbase_D0025:g.26024_26025ins protEffect 411_412insGVTPFASI CYBBbase_D0025:g.26024_26025ins mutType inframe CYBBbase_D0025:g.26028dupG protEffect V413X430 CYBBbase_D0025:g.26028dupG mutType frameshift CYBBbase_D0025:g.26035C>A protEffect P415H CYBBbase_D0025:g.26035C>A mutType missense CYBBbase_D0025:g.26035C>T protEffect P415L CYBBbase_D0025:g.26035C>T mutType missense CYBBbase_D0025:g.26035C>G protEffect P415R CYBBbase_D0025:g.26035C>G mutType missense CYBBbase_D0025:g.26044C>A protEffect S418Y CYBBbase_D0025:g.26044C>A mutType missense CYBBbase_D0025:g.26046dupA protEffect I419X430 CYBBbase_D0025:g.26046dupA mutType frameshift CYBBbase_D0025:g.26050T>C protEffect L420P CYBBbase_D0025:g.26050T>C mutType missense CYBBbase_D0025:g.26055T>C protEffect S422P CYBBbase_D0025:g.26055T>C mutType missense CYBBbase_D0025:g.26056C>A protEffect S422X CYBBbase_D0025:g.26056C>A mutType nonsense CYBBbase_D0025:g.26056_26064delCAGTCTGGT protEffect 422_425delinsY CYBBbase_D0025:g.26056_26064delCAGTCTGGT mutType inframe CYBBbase_D0025:g.26063G>A protEffect W424X CYBBbase_D0025:g.26063G>A mutType nonsense CYBBbase_D0025:g.26062G>A protEffect W424X CYBBbase_D0025:g.26062G>A mutType nonsense CYBBbase_D0025:g.26063delG protEffect 424_424delins11 CYBBbase_D0025:g.26063delG mutType frameshift CYBBbase_D0025:g.26066C>G protEffect Y425X CYBBbase_D0025:g.26066C>G mutType nonsense CYBBbase_D0025:g.26072T>G protEffect Y427X CYBBbase_D0025:g.26072T>G mutType nonsense CYBBbase_D0025:g.26075C>A protEffect C428X CYBBbase_D0025:g.26075C>A mutType nonsense CYBBbase_D0025:g.26078_26085delinsAAGCCA protEffect N429X451 CYBBbase_D0025:g.26078_26085delinsAAGCCA mutType frameshift CYBBbase_D0025:g.26085delA protEffect T432X434 CYBBbase_D0025:g.26085delA mutType frameshift CYBBbase_D0025:g.26100A>T protEffect K437X CYBBbase_D0025:g.26100A>T mutType nonsense CYBBbase_D0025:g.26104delA protEffect K438X501 CYBBbase_D0025:g.26104delA mutType frameshift CYBBbase_D0025:g.26104_26105delinsT protEffect K438X501 CYBBbase_D0025:g.26104_26105delinsT mutType frameshift CYBBbase_D0025:g.26105delG protEffect K438X501 CYBBbase_D0025:g.26105delG mutType frameshift CYBBbase_D0025:g.27324delA protEffect I439X501 CYBBbase_D0025:g.27324delA mutType frameshift CYBBbase_D0025:g.27329C>A protEffect Y440X CYBBbase_D0025:g.27329C>A mutType nonsense CYBBbase_D0025:g.27329C>G protEffect Y440X CYBBbase_D0025:g.27329C>G mutType nonsense CYBBbase_D0025:g.27335C>G protEffect Y442X CYBBbase_D0025:g.27335C>G mutType nonsense CYBBbase_D0025:g.27338G>A protEffect W443X CYBBbase_D0025:g.27338G>A mutType nonsense CYBBbase_D0025:g.27336delT protEffect W443X501 CYBBbase_D0025:g.27336delT mutType frameshift CYBBbase_D0025:g.27342T>C protEffect C445R CYBBbase_D0025:g.27342T>C mutType missense CYBBbase_D0025:g.27344C>A protEffect C445X CYBBbase_D0025:g.27344C>A mutType nonsense CYBBbase_D0025:g.27349delA protEffect D447X501 CYBBbase_D0025:g.27349delA mutType frameshift CYBBbase_D0025:g.27357_27361delGCCTT protEffect 450_451delinsX CYBBbase_D0025:g.27357_27361delGCCTT mutType nonsense CYBBbase_D0025:g.27359delC protEffect A450X501 CYBBbase_D0025:g.27359delC mutType frameshift CYBBbase_D0025:g.27363G>T protEffect E452X CYBBbase_D0025:g.27363G>T mutType nonsense CYBBbase_D0025:g.27366T>C protEffect W453R CYBBbase_D0025:g.27366T>C mutType missense CYBBbase_D0025:g.27366T>A protEffect W453R CYBBbase_D0025:g.27366T>A mutType missense CYBBbase_D0025:g.27367G>A protEffect W453X CYBBbase_D0025:g.27367G>A mutType nonsense CYBBbase_D0025:g.27368G>A protEffect W453X CYBBbase_D0025:g.27368G>A mutType nonsense CYBBbase_D0025:g.27366_27367delTG protEffect W453X484 CYBBbase_D0025:g.27366_27367delTG mutType frameshift CYBBbase_D0025:g.27372_27384del protEffect A455X497 CYBBbase_D0025:g.27372_27384del mutType frameshift CYBBbase_D0025:g.27384C>T protEffect Q459X CYBBbase_D0025:g.27384C>T mutType nonsense CYBBbase_D0025:g.27391delT protEffect 461_461delins41 CYBBbase_D0025:g.27391delT mutType frameshift CYBBbase_D0025:g.27393G>T protEffect E462X CYBBbase_D0025:g.27393G>T mutType nonsense CYBBbase_D0025:g.27405C>T protEffect Q466X CYBBbase_D0025:g.27405C>T mutType nonsense CYBBbase_D0025:g.27408G>T protEffect E467X CYBBbase_D0025:g.27408G>T mutType nonsense CYBBbase_D0025:g.27424delG protEffect G472X501 CYBBbase_D0025:g.27424delG mutType frameshift CYBBbase_D0025:g.27430T>G protEffect L474R CYBBbase_D0025:g.27430T>G mutType missense CYBBbase_D0025:g.27437C>A protEffect Y476X CYBBbase_D0025:g.27437C>A mutType nonsense CYBBbase_D0025:g.27446C>A protEffect Y479X CYBBbase_D0025:g.27446C>A mutType nonsense CYBBbase_D0025:g.27450A>C protEffect T481P CYBBbase_D0025:g.27450A>C mutType missense CYBBbase_D0025:g.27458G>A protEffect W483X CYBBbase_D0025:g.27458G>A mutType nonsense CYBBbase_D0025:g.27457G>A protEffect W483X CYBBbase_D0025:g.27457G>A mutType nonsense CYBBbase_D0025:g.27456_27468del protEffect W483X497 CYBBbase_D0025:g.27456_27468del mutType frameshift CYBBbase_D0025:g.27464delG protEffect E485X501 CYBBbase_D0025:g.27464delG mutType frameshift CYBBbase_D0025:g.27465dupT protEffect 486_486delins11 CYBBbase_D0025:g.27465dupT mutType frameshift CYBBbase_D0025:g.30506delC protEffect A488X501 CYBBbase_D0025:g.30506delC mutType frameshift CYBBbase_D0025:g.30526A>C protEffect H495P CYBBbase_D0025:g.30526A>C mutType missense CYBBbase_D0025:g.30530_30532delTGA protEffect 496_497delinsE CYBBbase_D0025:g.30530_30532delTGA mutType inframe CYBBbase_D0025:g.30539delA protEffect K499X501 CYBBbase_D0025:g.30539delA mutType frameshift CYBBbase_D0025:g.30542T>G protEffect D500E CYBBbase_D0025:g.30542T>G mutType missense CYBBbase_D0025:g.30541A>G protEffect D500G CYBBbase_D0025:g.30541A>G mutType missense CYBBbase_D0025:g.30540G>C protEffect D500H CYBBbase_D0025:g.30540G>C mutType missense CYBBbase_D0025:g.30540G>A protEffect D500N CYBBbase_D0025:g.30540G>A mutType missense CYBBbase_D0025:g.30540G>T protEffect D500Y CYBBbase_D0025:g.30540G>T mutType missense CYBBbase_D0025:g.30551delA protEffect T503X505 CYBBbase_D0025:g.30551delA mutType frameshift CYBBbase_D0025:g.30556T>C protEffect L505P CYBBbase_D0025:g.30556T>C mutType missense CYBBbase_D0025:g.30556T>G protEffect L505R CYBBbase_D0025:g.30556T>G mutType missense CYBBbase_D0025:g.30557_30567del protEffect L505X514 CYBBbase_D0025:g.30557_30567del mutType frameshift CYBBbase_D0025:g.30561C>T protEffect Q507X CYBBbase_D0025:g.30561C>T mutType nonsense CYBBbase_D0025:g.30563_30567delinsCATCTGGG protEffect 507_509delinsHIWA CYBBbase_D0025:g.30563_30567delinsCATCTGGG mutType inframe CYBBbase_D0025:g.30564_30565delAA protEffect K508X517 CYBBbase_D0025:g.30564_30565delAA mutType frameshift CYBBbase_D0025:g.30566_30569delGACT protEffect K508X531 CYBBbase_D0025:g.30566_30569delGACT mutType frameshift CYBBbase_D0025:g.30565delA protEffect K508X532 CYBBbase_D0025:g.30565delA mutType frameshift CYBBbase_D0025:g.30570_30571delTT protEffect L510X517 CYBBbase_D0025:g.30570_30571delTT mutType frameshift CYBBbase_D0025:g.30575T>A protEffect Y511X CYBBbase_D0025:g.30575T>A mutType nonsense CYBBbase_D0025:g.30574_30580delinsTTCA protEffect 511_513delinsFQ CYBBbase_D0025:g.30574_30580delinsTTCA mutType inframe CYBBbase_D0025:g.30590G>T protEffect W516C CYBBbase_D0025:g.30590G>T mutType missense CYBBbase_D0025:g.30588T>C protEffect W516R CYBBbase_D0025:g.30588T>C mutType missense CYBBbase_D0025:g.30588T>A protEffect W516R CYBBbase_D0025:g.30588T>A mutType missense CYBBbase_D0025:g.30590G>A protEffect W516X CYBBbase_D0025:g.30590G>A mutType nonsense CYBBbase_D0025:g.30589G>A protEffect W516X CYBBbase_D0025:g.30589G>A mutType nonsense CYBBbase_D0025:g.30591delG protEffect D517X532 CYBBbase_D0025:g.30591delG mutType frameshift CYBBbase_D0025:g.30597G>T protEffect E519X CYBBbase_D0025:g.30597G>T mutType nonsense CYBBbase_D0025:g.30603A>T protEffect K521X CYBBbase_D0025:g.30603A>T mutType nonsense CYBBbase_D0025:g.30607delC protEffect 522_522delins11 CYBBbase_D0025:g.30607delC mutType frameshift CYBBbase_D0025:g.30613C>T protEffect A524V CYBBbase_D0025:g.30613C>T mutType missense CYBBbase_D0025:g.30620delA protEffect Q526X532 CYBBbase_D0025:g.30620delA mutType frameshift CYBBbase_D0025:g.31739_31741delGAG protEffect 533_534delinsV CYBBbase_D0025:g.31739_31741delGAG mutType inframe CYBBbase_D0025:g.31742T>A protEffect V534D CYBBbase_D0025:g.31742T>A mutType missense CYBBbase_D0025:g.31741_31755del protEffect V534_G538del CYBBbase_D0025:g.31741_31755del mutType inframe CYBBbase_D0025:g.31744_31750delTTCCTCT protEffect F535X544 CYBBbase_D0025:g.31744_31750delTTCCTCT mutType frameshift CYBBbase_D0025:g.31748dupT protEffect L536X540 CYBBbase_D0025:g.31748dupT mutType frameshift CYBBbase_D0025:g.31750T>C protEffect C537R CYBBbase_D0025:g.31750T>C mutType missense CYBBbase_D0025:g.31752_31753delTG protEffect C537X539 CYBBbase_D0025:g.31752_31753delTG mutType frameshift CYBBbase_D0025:g.31759delG protEffect E540X546 CYBBbase_D0025:g.31759delG mutType frameshift CYBBbase_D0025:g.31766T>C protEffect L542S CYBBbase_D0025:g.31766T>C mutType missense CYBBbase_D0025:g.31766_31767dupCCTT protEffect L542X545 CYBBbase_D0025:g.31766_31767dupCCTT mutType frameshift CYBBbase_D0025:g.31778T>C protEffect L546P CYBBbase_D0025:g.31778T>C mutType missense CYBBbase_D0025:g.31778T>G protEffect L546R CYBBbase_D0025:g.31778T>G mutType missense CYBBbase_D0025:g.31783A>T protEffect K548X CYBBbase_D0025:g.31783A>T mutType nonsense CYBBbase_D0025:g.31786C>T protEffect Q549X CYBBbase_D0025:g.31786C>T mutType nonsense CYBBbase_D0025:g.31799delA protEffect N553X576 CYBBbase_D0025:g.31799delA mutType frameshift CYBBbase_D0025:g.31802_31803delCT protEffect S554X CYBBbase_D0025:g.31802_31803delCT mutType nonsense CYBBbase_D0025:g.31802_31803ins protEffect 554_554delins11 CYBBbase_D0025:g.31802_31803ins mutType frameshift CYBBbase_D0025:g.31803dupT protEffect E555X CYBBbase_D0025:g.31803dupT mutType nonsense CYBBbase_D0025:g.31803_31804insGT protEffect E555X577 CYBBbase_D0025:g.31803_31804insGT mutType frameshift CYBBbase_D0025:g.31819G>T protEffect G560X CYBBbase_D0025:g.31819G>T mutType nonsense CYBBbase_D0025:g.31820delG protEffect G560X576 CYBBbase_D0025:g.31820delG mutType frameshift CYBBbase_D0025:g.31823_31853del protEffect V561X566 CYBBbase_D0025:g.31823_31853del mutType frameshift CYBBbase_D0025:g.31835dupT protEffect F565X593 CYBBbase_D0025:g.31835dupT mutType frameshift CYBBbase_D0025:g.31843G>A protEffect E568K CYBBbase_D0025:g.31843G>A mutType missense CYBBbase_D0025:g.946A>C mutType upstream CYBBbase_D0025:g.948T>C mutType upstream CYBBbase_D0025:g.950C>T mutType upstream CYBBbase_D0025:g.951C>T mutType upstream CYBBbase_D0025:g.18731A>G protEffect E225X226 CYBBbase_D0025:g.18731A>G mutType cryptic CYBBbase_D0025:g.30627_30637del protEffect 524_529delins11 CYBBbase_D0025:g.30627_30637del mutType deletion DKC1base_D0028:g.3768_3769delinsTC protEffect L56S DKC1base_D0028:g.3768_3769delinsTC mutType missense DKC1base_D0028:g.3715T>C protEffect I38T DKC1base_D0028:g.3715T>C mutType missense DKC1base_D0028:g.3748C>T protEffect T49M DKC1base_D0028:g.3748C>T mutType missense DKC1base_D0028:g.4192C>T protEffect L72F DKC1base_D0028:g.4192C>T mutType missense DKC1base_D0028:g.4556A>G protEffect S121G DKC1base_D0028:g.4556A>G mutType missense DKC1base_D0028:g.11395C>T protEffect A353V DKC1base_D0028:g.11395C>T mutType missense DNMT3Bbase_D0096:g.40317C>T protEffect Q30X DNMT3Bbase_D0096:g.40317C>T mutType nonsense DNMT3Bbase_D0096:g.67766G>A protEffect R840Q DNMT3Bbase_D0096:g.67766G>A mutType missense DNMT3Bbase_D0096:g.67577G>A mutType deletion DNMT3Bbase_D0096:g.41276C>T protEffect V699G DNMT3Bbase_D0096:g.41276C>T mutType missense DNMT3Bbase_D0096:g.61283T>G mutType missense DNMT3Bbase_D0096:g.47313C>T protEffect Q204X DNMT3Bbase_D0096:g.47313C>T mutType nonsense DNMT3Bbase_D0096:g.60116T>C protEffect V606A DNMT3Bbase_D0096:g.60116T>C mutType missense DNMT3Bbase_D0096:g.48913T>C protEffect S270P DNMT3Bbase_D0096:g.48913T>C mutType missense DNMT3Bbase_D0096:g.60106G>A protEffect A603T DNMT3Bbase_D0096:g.60106G>A mutType missense DNMT3Bbase_D0096:g.67657G>A mutType insertion DNMT3Bbase_D0096:g.62322T>G protEffect V726G DNMT3Bbase_D0096:g.62322T>G mutType missense DNMT3Bbase_D0096:g.65308G>C protEffect A766P DNMT3Bbase_D0096:g.65308G>C mutType missense DNMT3Bbase_D0096:g.67688A>G protEffect H814R DNMT3Bbase_D0096:g.67688A>G mutType missense DNMT3Bbase_D0096:g.67699G>A protEffect V818M DNMT3Bbase_D0096:g.67699G>A mutType missense DNMT3Bbase_D0096:g.67697A>G protEffect D817G DNMT3Bbase_D0096:g.67697A>G mutType missense ELA2base_D0029:g.1287A>G protEffect M1V ELA2base_D0029:g.1287A>G mutType missense ELA2base_Y00477.1:g.1808T>G protEffect I30M ELA2base_Y00477.1:g.1808T>G mutType missense ELA2base_Y00477.1:g.1912T>A protEffect V65D ELA2base_Y00477.1:g.1912T>A mutType missense ELA2base_Y00477.1:g.1792C>T protEffect A25V ELA2base_Y00477.1:g.1792C>T mutType missense ELA2base_D0029:g.1843C>T protEffect P42L ELA2base_D0029:g.1843C>T mutType missense ELA2base_D0029:g.1847C>A protEffect F43L ELA2base_D0029:g.1847C>A mutType missense ELA2base_D0029:g.1855C>T protEffect S46F ELA2base_D0029:g.1855C>T mutType missense ELA2base_D0029:g.1858T>C protEffect L47P ELA2base_D0029:g.1858T>C mutType missense ELA2base_D0029:g.1876A>T protEffect H53L ELA2base_D0029:g.1876A>T mutType missense ELA2base_D0029:g.1882G>A protEffect C55Y ELA2base_D0029:g.1882G>A mutType missense ELA2base_D0029:g.1887G>A protEffect A57T ELA2base_D0029:g.1887G>A mutType missense ELA2base_Y00477.1:g.1888C>T protEffect A57V ELA2base_Y00477.1:g.1888C>T mutType missense ELA2base_D0029:g.1897T>C protEffect I60T ELA2base_D0029:g.1897T>C mutType missense ELA2base_D0029:g.1900C>T protEffect A61V ELA2base_D0029:g.1900C>T mutType missense ELA2base_Y00477.1:g.1903_1926del protEffect 62_70delinsH ELA2base_Y00477.1:g.1903_1926del mutType inframe ELA2base_D0029:g.1929T>C protEffect C71R ELA2base_D0029:g.1929T>C mutType missense ELA2base_D0029:g.1929T>A protEffect C71S ELA2base_D0029:g.1929T>A mutType missense ELA2base_D0029:g.2190G>C protEffect R81P ELA2base_D0029:g.2190G>C mutType missense ELA2base_Y00477.1:g.2190G>C protEffect R81P ELA2base_Y00477.1:g.2190G>C mutType missense ELA2base_D0029:g.2192G>A protEffect V82M ELA2base_D0029:g.2192G>A mutType missense ELA2base_D0029:g.2199T>C protEffect L84P ELA2base_D0029:g.2199T>C mutType missense ELA2base_D0029:g.2202G>A protEffect G85E ELA2base_D0029:g.2202G>A mutType missense ELA2base_Y00477.1:g.2202G>A protEffect G85E ELA2base_Y00477.1:g.2202G>A mutType missense ELA2base_D0029:g.2249G>A protEffect V101M ELA2base_D0029:g.2249G>A mutType missense ELA2base_Y00477.1:g.2249G>A protEffect V101M ELA2base_Y00477.1:g.2249G>A mutType missense ELA2base_Y00477.1:g.2310T>A protEffect L121H ELA2base_Y00477.1:g.2310T>A mutType missense ELA2base_D0029:g.2310T>C protEffect L121P ELA2base_D0029:g.2310T>C mutType missense ELA2base_D0029:g.4495C>T protEffect S126L ELA2base_D0029:g.4495C>T mutType missense ELA2base_Y00477.1:g.4498C>A protEffect A127D ELA2base_Y00477.1:g.4498C>A mutType missense ELA2base_D0029:g.4497G>C protEffect A127P ELA2base_D0029:g.4497G>C mutType missense ELA2base_Y00477.1:g.4498_4500delCCA protEffect 127_128delinsA ELA2base_Y00477.1:g.4498_4500delCCA mutType inframe ELA2base_D0029:g.4534C>T protEffect P139L ELA2base_D0029:g.4534C>T mutType missense ELA2base_D0029:g.4569T>A protEffect C151S ELA2base_D0029:g.4569T>A mutType missense ELA2base_D0029:g.4570G>A protEffect C151Y ELA2base_D0029:g.4570G>A mutType missense ELA2base_D0029:g.4573T>C protEffect L152P ELA2base_D0029:g.4573T>C mutType missense ELA2base_Y00477.1:g.4614G>A protEffect A166T ELA2base_Y00477.1:g.4614G>A mutType missense ELA2base_D0029:g.4638_4661del protEffect V174_C181del ELA2base_D0029:g.4638_4661del mutType inframe ELA2base_Y00477.1:g.4892G>A protEffect G203D ELA2base_Y00477.1:g.4892G>A mutType missense ELA2base_D0029:g.4898C>G protEffect P205R ELA2base_D0029:g.4898C>G mutType missense ELA2base_D0029:g.4902G>T protEffect L206F ELA2base_D0029:g.4902G>T mutType missense ELA2base_D0029:g.4913G>T protEffect G210V ELA2base_D0029:g.4913G>T mutType missense ELA2base_D0029:g.4924G>A protEffect G214R ELA2base_D0029:g.4924G>A mutType missense ELA2base_Y00477.1:g.4924G>A protEffect G214R ELA2base_Y00477.1:g.4924G>A mutType missense ELA2base_D0029:g.4939G>A protEffect V219I ELA2base_D0029:g.4939G>A mutType missense ELA2base_D0029:g.4943G>A protEffect R220Q ELA2base_D0029:g.4943G>A mutType missense ELA2base_D0029:g.4945G>T protEffect G221X ELA2base_D0029:g.4945G>T mutType nonsense ELA2base_D0029:g.4953C>A protEffect C223X ELA2base_D0029:g.4953C>A mutType nonsense ELA2base_Y00477.1:g.4953C>A protEffect C223X ELA2base_Y00477.1:g.4953C>A mutType nonsense ELA2base_D0029:g.4958C>A protEffect S225X ELA2base_D0029:g.4958C>A mutType nonsense ELA2base_D0029:g.4968C>A protEffect Y228X ELA2base_D0029:g.4968C>A mutType nonsense ELA2base_D0029:g.4972delG protEffect D230X239 ELA2base_D0029:g.4972delG mutType frameshift ELA2base_D0029:g.4981G>C protEffect A233P ELA2base_D0029:g.4981G>C mutType missense ELA2base_D0029:g.5054C>T protEffect P257L ELA2base_D0029:g.5054C>T mutType missense ELA2base_D0029:g.5069C>T protEffect P262L ELA2base_D0029:g.5069C>T mutType missense ELA2base_D0029:g.1246C>A mutType upstream ELA2base_D0029:g.1063C>A mutType upstream ELA2base_D0029:g.4477C>A protEffect 122_123insPQ ELA2base_D0029:g.4477C>A mutType inframe ELA2base_D0029:g.4716G>A protEffect V190_F199del ELA2base_D0029:g.4716G>A mutType inframe ELA2base_D0029:g.4718A>T protEffect V190_F199del ELA2base_D0029:g.4718A>T mutType inframe ELA2base_D0029:g.4720G>A protEffect V190_F199del ELA2base_D0029:g.4720G>A mutType inframe ELA2base_D0029:g.4676C>A protEffect V190_F199del ELA2base_D0029:g.4676C>A mutType inframe FASLGbase_D0090:g.83392_83475del protEffect M158_E185del FASLGbase_D0090:g.83392_83475del mutType inframe FASLGbase_D0090:g.83660C>A protEffect A247E FASLGbase_D0090:g.83660C>A mutType missense FCGR1Abase_D0032:g.2493C>T protEffect R92X FCGR1Abase_D0032:g.2493C>T mutType nonsense FCGR3Abase_D0033:g.2217T>A protEffect L66H FCGR3Abase_D0033:g.2217T>A mutType missense FOXN1base_D0034:g.56561C>T protEffect R255X FOXN1base_D0034:g.56561C>T mutType nonsense FOXP3base_D0035:g.81684_81685delinsGC protEffect F373A FOXP3base_D0035:g.81684_81685delinsGC mutType missense FOXP3base_D0035:g.74878G>A protEffect M1I FOXP3base_D0035:g.74878G>A mutType missense FOXP3base_D0035:g.74877T>C protEffect M1T FOXP3base_D0035:g.74877T>C mutType missense FOXP3base_D0035:g.75629delT protEffect L76X128 FOXP3base_D0035:g.75629delT mutType frameshift FOXP3base_D0035:g.75705_75706delTT protEffect H101X204 FOXP3base_D0035:g.75705_75706delTT mutType frameshift FOXP3base_D0035:g.76526C>T protEffect S181S FOXP3base_D0035:g.76526C>T mutType missense FOXP3base_D0035:g.80177T>C protEffect F324L FOXP3base_D0035:g.80177T>C mutType missense FOXP3base_D0035:g.76543C>T protEffect P187L FOXP3base_D0035:g.76543C>T mutType missense FOXP3base_D0035:g.77652T>C protEffect L242P FOXP3base_D0035:g.77652T>C mutType missense FOXP3base_D0035:g.77880_77882delAAG protEffect K250del FOXP3base_D0035:g.77880_77882delAAG mutType inframe FOXP3base_D0035:g.77883_77885delGAG protEffect E251del FOXP3base_D0035:g.77883_77885delGAG mutType inframe FOXP3base_D0035:g.80217G>A protEffect R337Q FOXP3base_D0035:g.80217G>A mutType missense FOXP3base_D0035:g.80222C>G protEffect P339A FOXP3base_D0035:g.80222C>G mutType missense FOXP3base_D0035:g.80247G>A protEffect R347H FOXP3base_D0035:g.80247G>A mutType missense FOXP3base_D0035:g.81654A>G protEffect I363V FOXP3base_D0035:g.81654A>G mutType missense FOXP3base_D0035:g.81666T>C protEffect F367L FOXP3base_D0035:g.81666T>C mutType missense FOXP3base_D0035:g.81668C>G protEffect F367L FOXP3base_D0035:g.81668C>G mutType missense FOXP3base_D0035:g.81679T>G protEffect F371C FOXP3base_D0035:g.81679T>G mutType missense FOXP3base_D0035:g.81684T>G protEffect F373V FOXP3base_D0035:g.81684T>G mutType missense FOXP3base_D0035:g.81688T>G protEffect F374C FOXP3base_D0035:g.81688T>G mutType missense FOXP3base_D0035:g.81706C>T protEffect T380I FOXP3base_D0035:g.81706C>T mutType missense FOXP3base_D0035:g.81897G>A protEffect A384T FOXP3base_D0035:g.81897G>A mutType missense FOXP3base_D0035:g.81936C>T protEffect R397W FOXP3base_D0035:g.81936C>T mutType missense FOXP3base_D0035:g.81969G>A protEffect V408M FOXP3base_D0035:g.81969G>A mutType missense FOXP3base_D0035:g.82040_82041delCT protEffect P431X457 FOXP3base_D0035:g.82040_82041delCT mutType frameshift GFI1base_D0037:g.4502G>A protEffect S36N GFI1base_D0037:g.4502G>A mutType missense GFI1base_D0037:g.11730A>G protEffect N382S GFI1base_D0037:g.11730A>G mutType missense GFI1base_D0037:g.11793A>G protEffect K403R GFI1base_D0037:g.11793A>G mutType missense HAX1base_D0121:g.1863delG protEffect E31X84 HAX1base_D0121:g.1863delG mutType frameshift HAX1base_D0121:g.3655C>T protEffect Q190X HAX1base_D0121:g.3655C>T mutType nonsense HAX1base_D0121:g.1902_1903insA protEffect W44X HAX1base_D0121:g.1902_1903insA mutType nonsense HAX1base_D0121:g.1946_1947insC protEffect E59X78 HAX1base_D0121:g.1946_1947insC mutType frameshift HAX1base_D0121:g.1952delA protEffect E60X84 HAX1base_D0121:g.1952delA mutType frameshift HAX1base_D0121:g.2028C>T protEffect R86X HAX1base_D0121:g.2028C>T mutType nonsense HAX1base_D0121:g.2315_2328del protEffect Q123X126 HAX1base_D0121:g.2315_2328del mutType frameshift HAX1base_D0121:g.2336T>G protEffect L130R HAX1base_D0121:g.2336T>G mutType missense HAX1base_D0121:g.2377dupG protEffect V144X148 HAX1base_D0121:g.2377dupG mutType frameshift HAX1base_D0121:g.2378T>G protEffect V144G HAX1base_D0121:g.2378T>G mutType missense HAX1base_D0121:g.2356C>T protEffect Q137X HAX1base_D0121:g.2356C>T mutType nonsense HAX1base_D0121:g.2368T>C protEffect F141L HAX1base_D0121:g.2368T>C mutType missense HAX1base_D0121:g.2410dupC protEffect Q155X168 HAX1base_D0121:g.2410dupC mutType frameshift HAX1base_D0121:g.3449G>A protEffect V172I HAX1base_D0121:g.3449G>A mutType missense ICOSbase_D0039:g.172403delT protEffect F95X121 ICOSbase_D0039:g.172403delT mutType frameshift ICOSbase_D0039:g.171583_173397del protEffect G20X29 ICOSbase_D0039:g.171583_173397del mutType deletion IFNGR1base_D0041:g.32897delC protEffect P8X14 IFNGR1base_D0041:g.32897delC mutType frameshift IFNGR1base_D0041:g.45144dupT protEffect T36X38 IFNGR1base_D0041:g.45144dupT mutType frameshift IFNGR1base_D0041:g.45145_45146insT protEffect T36X38 IFNGR1base_D0041:g.45145_45146insT mutType frameshift IFNGR1base_D0041:g.45236A>G protEffect Y66C IFNGR1base_D0041:g.45236A>G mutType missense IFNGR1base_D0041:g.45207delC protEffect V56X61 IFNGR1base_D0041:g.45207delC mutType frameshift IFNGR1base_D0041:g.45947G>A protEffect C85Y IFNGR1base_D0041:g.45947G>A mutType missense IFNGR1base_D0041:g.47847delT protEffect Y175X176 IFNGR1base_D0041:g.47847delT mutType frameshift IFNGR1base_D0041:g.45146_45147dupTTAC protEffect T36X39 IFNGR1base_D0041:g.45146_45147dupTTAC mutType frameshift IFNGR1base_D0041:g.45240G>T protEffect V29X104 IFNGR1base_D0041:g.45240G>T mutType frameshift IFNGR1base_D0041:g.45170delC protEffect P44X61 IFNGR1base_D0041:g.45170delC mutType frameshift IFNGR1base_D0041:g.45221T>A protEffect V61E IFNGR1base_D0041:g.45221T>A mutType missense IFNGR1base_D0041:g.48623_48625delAAG protEffect 218_219delinsG IFNGR1base_D0041:g.48623_48625delAAG mutType inframe IFNGR1base_D0041:g.45227T>G protEffect V63G IFNGR1base_D0041:g.45227T>G mutType missense IFNGR1base_D0041:g.45923G>A protEffect C77Y IFNGR1base_D0041:g.45923G>A mutType missense IFNGR1base_D0041:g.45953T>C protEffect I87T IFNGR1base_D0041:g.45953T>C mutType missense IFNGR1base_D0041:g.45988_45999del protEffect W99_V102del IFNGR1base_D0041:g.45988_45999del mutType inframe IFNGR1base_D0041:g.46040C>A protEffect S116X IFNGR1base_D0041:g.46040C>A mutType nonsense IFNGR1base_D0041:g.46067G>T protEffect G67X73 IFNGR1base_D0041:g.46067G>T mutType frameshift IFNGR1base_D0041:g.48531_48534delACTC protEffect I187X201 IFNGR1base_D0041:g.48531_48534delACTC mutType frameshift IFNGR1base_D0041:g.51234_51237delTCTA protEffect F258X275 IFNGR1base_D0041:g.51234_51237delTCTA mutType frameshift IFNGR1base_D0041:g.51271_51274delAAGA protEffect K271X275 IFNGR1base_D0041:g.51271_51274delAAGA mutType frameshift IFNGR1base_D0041:g.51278_51281delTTAA protEffect I273X275 IFNGR1base_D0041:g.51278_51281delTTAA mutType frameshift IFNGR1base_D0041:g.51278delT protEffect I273X276 IFNGR1base_D0041:g.51278delT mutType frameshift IFNGR1base_D0041:g.51277dupA protEffect I273X274 IFNGR1base_D0041:g.51277dupA mutType frameshift IFNGR1base_D0041:g.51292G>T protEffect E278X IFNGR1base_D0041:g.51292G>T mutType nonsense IFNGR1base_D0041:g.54101T>C protEffect L467P IFNGR1base_D0041:g.54101T>C mutType missense IFNGR1base_D0041:g.45892A>G protEffect 67_101delinsG IFNGR1base_D0041:g.45892A>G mutType inframe IFNGR2base_D0042:g.19766_19767dupACAATG protEffect 129_130insTM IFNGR2base_D0042:g.19766_19767dupACAATG mutType inframe IFNGR2base_D0042:g.19657_19658delAG protEffect E93X94 IFNGR2base_D0042:g.19657_19658delAG mutType frameshift IFNGR2base_D0042:g.19719C>T protEffect R114C IFNGR2base_D0042:g.19719C>T mutType missense IFNGR2base_D0042:g.25080C>A protEffect T168N IFNGR2base_D0042:g.25080C>A mutType missense IFNGR2base_D0042:g.30384_30410del protEffect 221_230delinsS IFNGR2base_D0042:g.30384_30410del mutType inframe IFNGR2base_D0042:g.30889delG protEffect G264X271 IFNGR2base_D0042:g.30889delG mutType frameshift IGHG2base_D0043:g.1795dupG protEffect G416X417 IGHG2base_D0043:g.1795dupG mutType frameshift IGHG2base_D0043:g.513A>G protEffect V185X217 IGHG2base_D0043:g.513A>G mutType frameshift IGHMbase_X57331.1:g.1217delA protEffect T400X402 IGHMbase_X57331.1:g.1217delA mutType frameshift IGHMbase_X57331.1:g.1255G>A protEffect W412X IGHMbase_X57331.1:g.1255G>A mutType nonsense IGHMbase_X57331.1:g.738_739delAA protEffect K322X405 IGHMbase_X57331.1:g.738_739delAA mutType frameshift IGHMbase_X57331.1:g.1893T>G protEffect C566G IGHMbase_X57331.1:g.1893T>G mutType missense IGHMbase_X57331.1:g.1956G>A protEffect E587K IGHMbase_X57331.1:g.1956G>A mutType missense IGLL1base_D0045:g.258C>T protEffect Q22X IGLL1base_D0045:g.258C>T mutType nonsense IGLL1base_D0045:g.6904C>T protEffect P142L IGLL1base_D0045:g.6904C>T mutType missense IKBKGbase_D0046:g.9771G>T protEffect V14L IKBKGbase_D0046:g.9771G>T mutType missense IKBKGbase_D0046:g.9842_9843insC protEffect M38X49 IKBKGbase_D0046:g.9842_9843insC mutType frameshift IKBKGbase_D0046:g.9900G>A protEffect E57K IKBKGbase_D0046:g.9900G>A mutType missense IKBKGbase_D0046:g.9915C>T protEffect R62X IKBKGbase_D0046:g.9915C>T mutType nonsense IKBKGbase_D0046:g.13951T>C protEffect L80P IKBKGbase_D0046:g.13951T>C mutType missense IKBKGbase_D0046:g.13978_13980delAGA protEffect 89_90delinsE IKBKGbase_D0046:g.13978_13980delAGA mutType inframe IKBKGbase_D0046:g.14049G>A protEffect D113N IKBKGbase_D0046:g.14049G>A mutType missense IKBKGbase_D0046:g.14079C>T protEffect R123W IKBKGbase_D0046:g.14079C>T mutType missense IKBKGbase_D0046:g.16325T>G protEffect L153R IKBKGbase_D0046:g.16325T>G mutType missense IKBKGbase_D0046:g.16384C>G protEffect R173G IKBKGbase_D0046:g.16384C>G mutType missense IKBKGbase_D0046:g.18148G>C protEffect R175P IKBKGbase_D0046:g.18148G>C mutType missense IKBKGbase_D0046:g.18173G>C protEffect Q183H IKBKGbase_D0046:g.18173G>C mutType missense IKBKGbase_D0046:g.19432T>C protEffect L227P IKBKGbase_D0046:g.19432T>C mutType missense IKBKGbase_D0046:g.19467C>T protEffect Q239X IKBKGbase_D0046:g.19467C>T mutType nonsense IKBKGbase_D0046:g.19470G>T protEffect E240X IKBKGbase_D0046:g.19470G>T mutType nonsense IKBKGbase_D0046:g.20567_20568insA protEffect Q265X283 IKBKGbase_D0046:g.20567_20568insA mutType frameshift IKBKGbase_D0046:g.20586_20603del protEffect E271_A276del IKBKGbase_D0046:g.20586_20603del mutType inframe IKBKGbase_D0046:g.20638C>G protEffect A288G IKBKGbase_D0046:g.20638C>G mutType missense IKBKGbase_D0046:g.21326A>C protEffect E315A IKBKGbase_D0046:g.21326A>C mutType missense IKBKGbase_D0046:g.21325_21326insG protEffect E315X394 IKBKGbase_D0046:g.21325_21326insG mutType frameshift IKBKGbase_D0046:g.21338G>A protEffect R319Q IKBKGbase_D0046:g.21338G>A mutType missense IKBKGbase_D0046:g.21349G>C protEffect A323P IKBKGbase_D0046:g.21349G>C mutType missense IKBKGbase_D0046:g.21376C>T protEffect Q332X IKBKGbase_D0046:g.21376C>T mutType nonsense IKBKGbase_D0046:g.21714C>T protEffect R359W IKBKGbase_D0046:g.21714C>T mutType missense IKBKGbase_D0046:g.21716delG protEffect R359X450 IKBKGbase_D0046:g.21716delG mutType frameshift IKBKGbase_D0046:g.21754delC protEffect P372X450 IKBKGbase_D0046:g.21754delC mutType frameshift IKBKGbase_D0046:g.22087C>T protEffect Q384X IKBKGbase_D0046:g.22087C>T mutType nonsense IKBKGbase_D0046:g.22103_22104insAC protEffect P389X451 IKBKGbase_D0046:g.22103_22104insAC mutType frameshift IKBKGbase_D0046:g.22104_22105insC protEffect E390X394 IKBKGbase_D0046:g.22104_22105insC mutType frameshift IKBKGbase_D0046:g.22108G>T protEffect E391X IKBKGbase_D0046:g.22108G>T mutType nonsense IKBKGbase_D0046:g.22144C>T protEffect Q403X IKBKGbase_D0046:g.22144C>T mutType nonsense IKBKGbase_D0046:g.22154A>T protEffect D406V IKBKGbase_D0046:g.22154A>T mutType missense IKBKGbase_D0046:g.22154_22155insA protEffect D406X419 IKBKGbase_D0046:g.22154_22155insA mutType frameshift IKBKGbase_D0046:g.22187G>T protEffect C417F IKBKGbase_D0046:g.22187G>T mutType missense IKBKGbase_D0046:g.22186T>C protEffect C417R IKBKGbase_D0046:g.22186T>C mutType missense IKBKGbase_D0046:g.22187G>A protEffect C417Y IKBKGbase_D0046:g.22187G>A mutType missense IKBKGbase_D0046:g.22196A>G protEffect X420X447 IKBKGbase_D0046:g.22196A>G mutType terminator IKBKGbase_D0046:g.19525G>A protEffect Q134_R256del IKBKGbase_D0046:g.19525G>A mutType inframe IKBKGbase_D0046:g.21694G>A protEffect I353X430 IKBKGbase_D0046:g.21694G>A mutType deletion IL12Bbase_D0047:g.9794_9801delTTCGCTCC protEffect H99X112 IL12Bbase_D0047:g.9794_9801delTTCGCTCC mutType frameshift IL12Bbase_D0047:g.9817dupA protEffect K107X115 IL12Bbase_D0047:g.9817dupA mutType frameshift IL12RB1base_D0048:g.4426C>T protEffect Q32X IL12RB1base_D0048:g.4426C>T mutType nonsense IL12RB1base_D0048:g.25615_25616delinsTT protEffect V541X542 IL12RB1base_D0048:g.5729T>C protEffect L77P IL12RB1base_D0048:g.5729T>C mutType missense IL12RB1base_D0048:g.10335A>C protEffect Q171P IL12RB1base_D0048:g.10335A>C mutType missense IL12RB1base_D0048:g.15762_15763delinsG protEffect A336X345 IL12RB1base_D0048:g.15762_15763delinsG mutType frameshift IL12RB1base_D0048:g.10341G>C protEffect R173P IL12RB1base_D0048:g.10341G>C mutType missense IL12RB1base_D0048:g.12031T>C protEffect C198R IL12RB1base_D0048:g.12031T>C mutType missense IL12RB1base_D0048:g.12071G>C protEffect R211P IL12RB1base_D0048:g.12071G>C mutType missense IL12RB1base_D0048:g.12076C>T protEffect R213W IL12RB1base_D0048:g.12076C>T mutType missense IL12RB1base_D0048:g.12083_12084dup protEffect L215X247 IL12RB1base_D0048:g.12083_12084dup mutType frameshift IL12RB1base_D0048:g.14298dupC protEffect P237X294 IL12RB1base_D0048:g.14298dupC mutType frameshift IL12RB1base_D0048:g.15668A>T protEffect K305X IL12RB1base_D0048:g.15668A>T mutType nonsense IL12RB1base_D0048:g.15717C>A protEffect S321X IL12RB1base_D0048:g.15717C>A mutType nonsense IL12RB1base_D0048:g.18253A>G protEffect Y367C IL12RB1base_D0048:g.18253A>G mutType missense IL12RB1base_D0048:g.18279C>T protEffect Q376X IL12RB1base_D0048:g.18279C>T mutType nonsense IL12RB1base_D0048:g.21319C>T protEffect R486X IL12RB1base_D0048:g.21319C>T mutType nonsense IL12RB1base_D0048:g.26724_26725dupCA protEffect P584X620 IL12RB1base_D0048:g.26724_26725dupCA mutType frameshift IL12RB1base_D0048:g.11559A>G protEffect G184X192 IL12RB1base_D0048:g.11559A>G mutType deletion IL12RB1base_D0048:g.11568_11574delinsAGATATCA protEffect 137_194delinsE IL12RB1base_D0048:g.11568_11574delinsAGATATCA mutType inframe IL12RB1base_D0048:g.10290_10306del protEffect V137X144 IL12RB1base_D0048:g.10290_10306del mutType deletion IL12RB1base_D0048:g.14372G>C protEffect E234X266 IL12RB1base_D0048:g.14372G>C mutType frameshift IL12RB1base_D0048:g.14372G>A protEffect E234X266 IL12RB1base_D0048:g.14372G>A mutType deletion IL12RB1base_D0048:g.12502_24667del protEffect 234_540delinsE IL12RB1base_D0048:g.12502_24667del mutType inframe IL2RAbase_D0049:g.37297_37300delGCAG protEffect A21X46 IL2RAbase_D0049:g.37297_37300delGCAG mutType frameshift IL2RAbase_D0049:g.39016C>T protEffect Q101X IL2RAbase_D0049:g.39016C>T mutType nonsense IL2RAbase_D0049:g.43863dupA protEffect E231X269 IL2RAbase_D0049:g.43863dupA mutType frameshift IL7Rbase_D0050:g.11505T>A protEffect T125T IL7Rbase_D0050:g.11505T>A mutType missense IL7Rbase_D0050:g.15116C>T protEffect P132S IL7Rbase_D0050:g.15116C>T mutType missense IL7Rbase_D0050:g.17604C>T protEffect R206X IL7Rbase_D0050:g.17604C>T mutType nonsense IL7Rbase_D0050:g.17639G>A protEffect W217X IL7Rbase_D0050:g.17639G>A mutType nonsense IRAK4base_D0051:g.11082C>T protEffect R12C IRAK4base_D0051:g.11082C>T mutType missense IRAK4base_D0051:g.26645G>A protEffect R391H IRAK4base_D0051:g.26645G>A mutType missense IRAK4base_D0051:g.11171dupA protEffect P42X45 IRAK4base_D0051:g.11171dupA mutType frameshift IRAK4base_D0051:g.11192C>G protEffect Y48X IRAK4base_D0051:g.11192C>G mutType nonsense IRAK4base_D0051:g.15989delG protEffect A211X212 IRAK4base_D0051:g.15989delG mutType frameshift IRAK4base_D0051:g.15882delA protEffect 175_175delins31 IRAK4base_D0051:g.15882delA mutType frameshift IRAK4base_D0051:g.15978_15979delAC protEffect N207X219 IRAK4base_D0051:g.15978_15979delAC mutType frameshift IRAK4base_D0051:g.21175C>T protEffect Q293X IRAK4base_D0051:g.21175C>T mutType nonsense IRAK4base_D0051:g.20671delT protEffect L274X287 IRAK4base_D0051:g.20671delT mutType frameshift IRAK4base_D0051:g.29351G>T protEffect E402X IRAK4base_D0051:g.29351G>T mutType nonsense ITGB2base_AL163300.2:g.11109T>A protEffect M1K ITGB2base_AL163300.2:g.11109T>A mutType missense ITGB2base_D0052:g.33187delT protEffect D690X714 ITGB2base_D0052:g.33187delT mutType frameshift ITGB2base_D0052:g.21401C>A protEffect 247_248insPSSQ ITGB2base_D0052:g.21401C>A mutType inframe ITGB2base_AL163300.2:g.11536_11537insC protEffect T26X58 ITGB2base_AL163300.2:g.11536_11537insC mutType frameshift ITGB2base_AL163300.2:g.11538A>T protEffect K27X ITGB2base_AL163300.2:g.11538A>T mutType nonsense ITGB2base_AL163300.2:g.33187delT protEffect D690X714 ITGB2base_AL163300.2:g.33187delT mutType frameshift ITGB2base_AL163300.2:g.18418A>C protEffect Y131S ITGB2base_AL163300.2:g.18418A>C mutType missense ITGB2base_AL163300.2:g.18475G>A protEffect G150D ITGB2base_AL163300.2:g.18475G>A mutType missense ITGB2base_AL163300.2:g.20162G>A protEffect G169R ITGB2base_AL163300.2:g.20162G>A mutType missense ITGB2base_D0052:g.32514C>T protEffect R593C ITGB2base_D0052:g.32514C>T mutType missense ITGB2base_AL163300.2:g.20270_20271insA protEffect R205X264 ITGB2base_AL163300.2:g.20270_20271insA mutType frameshift ITGB2base_D0052:g.21523G>A protEffect G284S ITGB2base_D0052:g.21523G>A mutType missense ITGB2base_AL163300.2:g.31857C>A protEffect C534X ITGB2base_AL163300.2:g.31857C>A mutType nonsense ITGB2base_AL163300.2:g.21519C>A protEffect N282K ITGB2base_AL163300.2:g.21519C>A mutType missense ITGB2base_D0052:g.31752delG protEffect K499X528 ITGB2base_D0052:g.31752delG mutType frameshift ITGB2base_AL163300.2:g.28405delC protEffect T381X390 ITGB2base_AL163300.2:g.28405delC mutType frameshift ITGB2base_D0052:g.33037delG protEffect G640X657 ITGB2base_D0052:g.33037delG mutType frameshift ITGB2base_D0052:g.31877_31912del protEffect 541_553delinsW ITGB2base_D0052:g.31877_31912del mutType inframe ITGB2base_D0052:g.35107G>T protEffect E734X ITGB2base_D0052:g.35107G>T mutType nonsense ITGB2base_AL163300.2:g.32571T>C protEffect C612R ITGB2base_AL163300.2:g.32571T>C mutType missense ITGB2base_AL163300.2:g.33024delA protEffect K636X657 ITGB2base_AL163300.2:g.33024delA mutType frameshift ITGB2base_D0052:g.20145T>G protEffect G167X214 ITGB2base_D0052:g.20145T>G mutType deletion ITGB2base_D0052:g.21571G>A protEffect D300X334 ITGB2base_D0052:g.21571G>A mutType insertion ITGB2base_D0052:g.26922G>C protEffect K332_N361del ITGB2base_D0052:g.26922G>C mutType inframe ITGB2base_D0052:g.18318_18486del protEffect 110_167delinsG ITGB2base_D0052:g.18318_18486del mutType inframe JAK3base_D0095:g.5057A>G protEffect M1V JAK3base_D0095:g.5057A>G mutType missense JAK3base_D0095:g.5164delG protEffect 36_36delins111 JAK3base_D0095:g.5164delG mutType frameshift JAK3base_D0095:g.5227_5229delTGC protEffect 57_58delinsA JAK3base_D0095:g.5227_5229delTGC mutType inframe JAK3base_D0095:g.6388C>A protEffect D169E JAK3base_D0095:g.6388C>A mutType missense JAK3base_D0095:g.5228G>C protEffect A58P JAK3base_D0095:g.5228G>C mutType missense JAK3base_D0095:g.18947delC protEffect C1024X1037 JAK3base_D0095:g.18947delC mutType frameshift JAK3base_D0095:g.5688A>G protEffect Y100C JAK3base_D0095:g.5688A>G mutType missense JAK3base_D0095:g.6333C>G protEffect P151R JAK3base_D0095:g.6333C>G mutType missense JAK3base_D0095:g.9168dupG protEffect G393X409 JAK3base_D0095:g.9168dupG mutType frameshift JAK3base_D0095:g.11536C>A protEffect C565X JAK3base_D0095:g.11536C>A mutType nonsense JAK3base_D0095:g.9889C>T protEffect R445X JAK3base_D0095:g.9889C>T mutType nonsense JAK3base_D0095:g.14828T>C protEffect C759R JAK3base_D0095:g.14828T>C mutType missense JAK3base_D0095:g.11084A>G protEffect E481G JAK3base_D0095:g.11084A>G mutType missense JAK3base_D0095:g.11084_11542del protEffect E481_S596del JAK3base_D0095:g.11084_11542del mutType inframe JAK3base_D0095:g.11210G>A protEffect W523X JAK3base_D0095:g.11210G>A mutType nonsense JAK3base_D0095:g.12303C>T protEffect R582W JAK3base_D0095:g.12303C>T mutType missense JAK3base_D0095:g.12324G>A protEffect G589S JAK3base_D0095:g.12324G>A mutType missense JAK3base_D0095:g.12326C>T protEffect V590_S596del JAK3base_D0095:g.12326C>T mutType inframe JAK3base_D0095:g.14295C>T protEffect R651W JAK3base_D0095:g.14295C>T mutType missense JAK3base_D0095:g.14503G>A protEffect E694K JAK3base_D0095:g.14503G>A mutType missense JAK3base_D0095:g.14488C>T protEffect P689S JAK3base_D0095:g.14488C>T mutType missense JAK3base_D0095:g.14543A>C protEffect D707A JAK3base_D0095:g.14543A>C mutType missense JAK3base_D0095:g.18135T>G protEffect L956R JAK3base_D0095:g.18135T>G mutType missense JAK3base_D0095:g.14587G>A protEffect V722I JAK3base_D0095:g.14587G>A mutType missense JAK3base_D0095:g.14849C>T protEffect Q766X JAK3base_D0095:g.14849C>T mutType nonsense JAK3base_D0095:g.14864C>T protEffect R771X JAK3base_D0095:g.14864C>T mutType nonsense JAK3base_D0095:g.17724T>C protEffect L910S JAK3base_D0095:g.17724T>C mutType missense JAK3base_D0095:g.18944C>A protEffect Y1023X JAK3base_D0095:g.18944C>A mutType nonsense JAK3base_D0095:g.18229C>T protEffect G987X1031 JAK3base_D0095:g.18229C>T mutType deletion JAK3base_D0095:g.11082A>G protEffect E481X517 JAK3base_D0095:g.11082A>G mutType frameshift JAK3base_D0095:g.14515G>T protEffect E698X JAK3base_D0095:g.14515G>T mutType nonsense JAK3base_D0095:g.14905T>C protEffect 734_784delins61 JAK3base_D0095:g.14905T>C mutType frameshift LIG1base_D0053:g.38293G>A protEffect E566K LIG1base_D0053:g.38293G>A mutType missense LIG1base_D0053:g.50060C>T protEffect R771W LIG1base_D0053:g.50060C>T mutType missense LIG4base_D0054:g.4522C>T protEffect A3V LIG4base_D0054:g.4522C>T mutType missense LIG4base_D0054:g.4540C>T protEffect T9I LIG4base_D0054:g.4540C>T mutType missense LIG4base_D0054:g.5347G>A protEffect R278H LIG4base_D0054:g.5347G>A mutType missense LIG4base_D0054:g.5259A>G protEffect M249V LIG4base_D0054:g.5259A>G mutType missense LIG4base_D0054:g.5784_5788delAAAAG protEffect K424X443 LIG4base_D0054:g.5784_5788delAAAAG mutType frameshift LIG4base_D0054:g.5353A>G protEffect Q280R LIG4base_D0054:g.5353A>G mutType missense LIG4base_D0054:g.5785_5789delAAAGA protEffect K424X443 LIG4base_D0054:g.5785_5789delAAAGA mutType frameshift LIG4base_D0054:g.5359A>T protEffect H282L LIG4base_D0054:g.5359A>T mutType missense LIG4base_D0054:g.5811_5813delCAA protEffect Q433del LIG4base_D0054:g.5811_5813delCAA mutType inframe LIG4base_D0054:g.5920G>A protEffect G469E LIG4base_D0054:g.5920G>A mutType missense LIG4base_D0054:g.6954C>T protEffect R814X LIG4base_D0054:g.6954C>T mutType nonsense LIG4base_D0054:g.6252C>T protEffect R580X LIG4base_D0054:g.6252C>T mutType nonsense LRRC8Abase_D0055:g.2347_12872del protEffect I720X755 LRRC8Abase_D0055:g.2347_12872del mutType insertion LYSTbase_D0020:g.37626_37627insG protEffect A40X63 LYSTbase_D0020:g.37626_37627insG mutType frameshift LYSTbase_D0020:g.37656C>T protEffect R50X LYSTbase_D0020:g.37656C>T mutType nonsense LYSTbase_D0020:g.57683dupT protEffect L192X197 LYSTbase_D0020:g.57683dupT mutType frameshift LYSTbase_D0020:g.58575delG protEffect E489X566 LYSTbase_D0020:g.58575delG mutType frameshift LYSTbase_D0020:g.58648C>T protEffect R514X LYSTbase_D0020:g.58648C>T mutType nonsense LYSTbase_D0020:g.155837delT protEffect F3298X3304 LYSTbase_D0020:g.155837delT mutType frameshift LYSTbase_D0020:g.59010_59011insA protEffect A635X638 LYSTbase_D0020:g.59010_59011insA mutType frameshift LYSTbase_D0020:g.61244delA protEffect K818X823 LYSTbase_D0020:g.61244delA mutType frameshift LYSTbase_D0020:g.61410delT protEffect F874X898 LYSTbase_D0020:g.61410delT mutType frameshift LYSTbase_D0020:g.61863_61864delAA protEffect N1025X1030 LYSTbase_D0020:g.61863_61864delAA mutType frameshift LYSTbase_D0020:g.61875C>T protEffect Q1029X LYSTbase_D0020:g.61875C>T mutType nonsense LYSTbase_D0020:g.62100C>T protEffect R1104X LYSTbase_D0020:g.62100C>T mutType nonsense LYSTbase_D0020:g.63300_63301insA protEffect H1145X1153 LYSTbase_D0020:g.63300_63301insA mutType frameshift LYSTbase_D0020:g.64928C>T protEffect Q1208X LYSTbase_D0020:g.64928C>T mutType nonsense LYSTbase_D0020:g.190799G>T protEffect E3668X LYSTbase_D0020:g.190799G>T mutType nonsense LYSTbase_D0020:g.74359C>G protEffect S1351X LYSTbase_D0020:g.74359C>G mutType nonsense LYSTbase_D0020:g.75958delT protEffect L1425X1426 LYSTbase_D0020:g.75958delT mutType frameshift LYSTbase_D0020:g.133336G>A protEffect E2810K LYSTbase_D0020:g.133336G>A mutType missense LYSTbase_D0020:g.86908T>A protEffect Y1687X LYSTbase_D0020:g.86908T>A mutType nonsense LYSTbase_D0020:g.76045C>A protEffect A1454D LYSTbase_D0020:g.76045C>A mutType missense LYSTbase_D0020:g.79225G>A protEffect R1563H LYSTbase_D0020:g.79225G>A mutType missense LYSTbase_D0020:g.85980delA protEffect G1668X1696 LYSTbase_D0020:g.85980delA mutType frameshift LYSTbase_D0020:g.90720delA protEffect R1773X1785 LYSTbase_D0020:g.90720delA mutType frameshift LYSTbase_D0020:g.143810_143811ins10 mutType frameshift LYSTbase_D0020:g.92898delC protEffect S1840X1841 LYSTbase_D0020:g.92898delC mutType frameshift LYSTbase_D0020:g.101722T>A protEffect V1999D LYSTbase_D0020:g.101722T>A mutType missense LYSTbase_D0020:g.101804C>A protEffect Y2026X LYSTbase_D0020:g.101804C>A mutType nonsense LYSTbase_D0020:g.112279_112285delCTATTAG protEffect L2354X2369 LYSTbase_D0020:g.112279_112285delCTATTAG mutType frameshift LYSTbase_D0020:g.115849delT protEffect Y2519X2528 LYSTbase_D0020:g.115849delT mutType frameshift LYSTbase_D0020:g.134067G>A protEffect W2861X LYSTbase_D0020:g.134067G>A mutType nonsense LYSTbase_D0020:g.151177delA protEffect Y3197X3258 LYSTbase_D0020:g.151177delA mutType frameshift LYSTbase_D0020:g.170674delA protEffect K3465X3467 LYSTbase_D0020:g.170674delA mutType frameshift MAPBPIPbase_D0123:g.4581C>A mutType downstream MASP2base_D0056:g.1630A>G protEffect D120G MASP2base_D0056:g.1630A>G mutType missense MLPHbase_D0059:g.7243C>T protEffect R35W MLPHbase_D0059:g.7243C>T mutType missense MPObase_D0060:g.3520delA protEffect T109X113 MPObase_D0060:g.3520delA mutType frameshift MPObase_D0060:g.3899A>G protEffect Y173C MPObase_D0060:g.3899A>G mutType missense MPObase_D0060:g.4311T>C protEffect M251T MPObase_D0060:g.4311T>C mutType missense MPObase_D0060:g.9953_9966del protEffect P518X539 MPObase_D0060:g.9953_9966del mutType frameshift MPObase_D0060:g.10600C>T protEffect R569W MPObase_D0060:g.10600C>T mutType missense MPObase_D0060:g.5414C>T protEffect A332V MPObase_D0060:g.5414C>T mutType missense MPObase_D0060:g.10610T>G protEffect L572W MPObase_D0060:g.10610T>G mutType missense MPObase_D0060:g.5531A>G protEffect D371G MPObase_D0060:g.5531A>G mutType missense MPObase_D0060:g.9896C>T protEffect R499C MPObase_D0060:g.9896C>T mutType missense MPObase_D0060:g.9902G>A protEffect G501S MPObase_D0060:g.9902G>A mutType missense MPObase_D0060:g.12564A>C protEffect R677X750 MPObase_D0060:g.12564A>C mutType frameshift MPObase_D0060:g.11675T>C protEffect W643R MPObase_D0060:g.11675T>C mutType missense MRE11Abase_D0061:g.15119A>G protEffect N117S MRE11Abase_D0061:g.15119A>G mutType missense MRE11Abase_D0061:g.47557C>T protEffect R572X MRE11Abase_D0061:g.47557C>T mutType nonsense MRE11Abase_D0061:g.15981dupT protEffect C139X165 MRE11Abase_D0061:g.15981dupT mutType frameshift MRE11Abase_D0061:g.23153T>C protEffect W243R MRE11Abase_D0061:g.23153T>C mutType missense MRE11Abase_D0061:g.18527G>C protEffect W210C MRE11Abase_D0061:g.18527G>C mutType missense MRE11Abase_D0061:g.35379C>A protEffect T481K MRE11Abase_D0061:g.35379C>A mutType missense MRE11Abase_D0061:g.57639C>T protEffect R633X MRE11Abase_D0061:g.57639C>T mutType nonsense MYO5Abase_D0062:g.153616C>T protEffect R778X MYO5Abase_D0062:g.153616C>T mutType nonsense MYO5Abase_D0062:g.178684C>T protEffect R1246C MYO5Abase_D0062:g.178684C>T mutType missense NCF1base_D0099:g.4249_4250delGT protEffect V25X51 NCF1base_D0099:g.4249_4250delGT mutType frameshift NCF1base_D0099:g.9966delG protEffect 168_168delins31 NCF1base_D0099:g.9966delG mutType frameshift NCF1base_D0099:g.6278C>T protEffect Q91X NCF1base_D0099:g.6278C>T mutType nonsense NCF1base_D0099:g.12263G>A protEffect G262S NCF1base_D0099:g.12263G>A mutType missense NCF1base_D0099:g.4299G>A protEffect R42Q NCF1base_D0099:g.4299G>A mutType missense NCF1base_D0099:g.6360_6361delinsAA protEffect F118X NCF1base_D0099:g.6360_6361delinsAA mutType nonsense NCF1base_D0099:g.6340T>A protEffect C111X NCF1base_D0099:g.6340T>A mutType nonsense NCF1base_D0099:g.10506G>A protEffect W193X NCF1base_D0099:g.10506G>A mutType nonsense NCF1base_D0099:g.5779_8636del protEffect K52X99 NCF1base_D0099:g.5779_8636del mutType deletion NCF1base_D0099:g.10610G>C protEffect 192_228delinsG NCF1base_D0099:g.10610G>C mutType inframe NCF1base_D0099:g.10531C>T protEffect R202X NCF1base_D0099:g.10531C>T mutType nonsense NCF1base_D0099:g.12209G>A protEffect E244K NCF1base_D0099:g.12209G>A mutType missense NCF1base_D0099:g.10038G>A protEffect G192S NCF1base_D0099:g.10038G>A mutType missense NCF1base_D0099:g.14999delC protEffect L280X375 NCF1base_D0099:g.14999delC mutType frameshift NCF1base_D0099:g.14972delG protEffect V271X375 NCF1base_D0099:g.14972delG mutType frameshift NCF1base_D0099:g.10539G>A protEffect W204X NCF1base_D0099:g.10539G>A mutType nonsense NCF1base_D0099:g.10605T>G protEffect Y226X NCF1base_D0099:g.10605T>G mutType nonsense NCF1base_D0099:g.12213_12227del protEffect 245_250delinsG NCF1base_D0099:g.12213_12227del mutType inframe NCF1base_D0099:g.14998delC protEffect Y279X375 NCF1base_D0099:g.14998delC mutType frameshift NFKBIAbase_D0063:g.1189G>T protEffect S32I NFKBIAbase_D0063:g.1189G>T mutType missense NFKBIAbase_D0063:g.1134G>T protEffect E14X NFKBIAbase_D0063:g.1134G>T mutType nonsense NHEJ1base_D0113:g.13476dupT protEffect L4X47 NHEJ1base_D0113:g.13476dupT mutType frameshift NHEJ1base_D0113:g.13634C>G protEffect R57G NHEJ1base_D0113:g.13634C>G mutType missense NHEJ1base_D0113:g.14333T>C protEffect C123R NHEJ1base_D0113:g.14333T>C mutType missense NHEJ1base_D0113:g.13642delG protEffect K59X61 NHEJ1base_D0113:g.13642delG mutType frameshift NHEJ1base_D0113:g.24137dupA protEffect D166X185 NHEJ1base_D0113:g.24137dupA mutType frameshift NHEJ1base_D0113:g.24168C>T protEffect R176X NHEJ1base_D0113:g.24168C>T mutType nonsense NHEJ1base_D0113:g.25092C>T protEffect R178X NHEJ1base_D0113:g.25092C>T mutType nonsense NPbase_D0064:g.3957C>T protEffect R24X NPbase_D0064:g.3957C>T mutType nonsense NPbase_D0064:g.4059C>T protEffect R58X NPbase_D0064:g.4059C>T mutType nonsense NPbase_D0064:g.6167G>A protEffect V61X90 NPbase_D0064:g.6167G>A mutType deletion NPbase_D0064:g.8091C>G protEffect H257D NPbase_D0064:g.8091C>G mutType missense NPbase_D0064:g.4068G>T protEffect G4X32 NPbase_D0064:g.4068G>T mutType deletion NPbase_D0064:g.8023G>C protEffect R234P NPbase_D0064:g.8023G>C mutType missense NPbase_D0064:g.6093G>A protEffect G71E NPbase_D0064:g.6093G>A mutType missense NPbase_D0064:g.6146G>A protEffect E89K NPbase_D0064:g.6146G>A mutType missense NPbase_D0064:g.6711G>C protEffect A174P NPbase_D0064:g.6711G>C mutType missense NPbase_D0064:g.6427G>A protEffect A117T NPbase_D0064:g.6427G>A mutType missense NPbase_D0064:g.6461A>G protEffect D128G NPbase_D0064:g.6461A>G mutType missense NPbase_D0064:g.6463_6465delATC protEffect I129del NPbase_D0064:g.6463_6465delATC mutType inframe NPbase_D0064:g.6658G>C protEffect G156A NPbase_D0064:g.6658G>C mutType missense NPbase_D0064:g.6666T>G protEffect F159V NPbase_D0064:g.6666T>G mutType missense NPbase_D0064:g.6678T>C protEffect S163P NPbase_D0064:g.6678T>C mutType missense NPbase_D0064:g.6760G>T protEffect G190V NPbase_D0064:g.6760G>T mutType missense NPbase_D0064:g.6766A>G protEffect Y192C NPbase_D0064:g.6766A>G mutType missense NPbase_D0064:g.8052delA protEffect K244X261 NPbase_D0064:g.8052delA mutType frameshift NPbase_D0064:g.6346G>A protEffect V96X130 NPbase_D0064:g.6346G>A mutType insertion NRASbase_D0125:g.40791G>A protEffect G13D NRASbase_D0125:g.40791G>A mutType missense ORAI1base_D0114:g.1133_1134insA protEffect A88X112 ORAI1base_D0114:g.1133_1134insA mutType frameshift ORAI1base_D0114:g.15176C>A protEffect A103E ORAI1base_D0114:g.15176C>A mutType missense ORAI1base_D0114:g.15449T>C protEffect L194P ORAI1base_D0114:g.15449T>C mutType missense PRF1base_D0067:g.3276G>A protEffect M1I PRF1base_D0067:g.3276G>A mutType missense PRF1base_D0067:g.3481G>T protEffect D70Y PRF1base_D0067:g.3481G>T mutType missense PRF1base_D0067:g.3458_3468del protEffect D62X73 PRF1base_D0067:g.3458_3468del mutType frameshift PRF1base_D0067:g.3274A>G protEffect M1V PRF1base_D0067:g.3274A>G mutType missense PRF1base_D0067:g.5404G>A protEffect G317R PRF1base_D0067:g.5404G>A mutType missense PRF1base_D0067:g.3284G>A protEffect R4H PRF1base_D0067:g.3284G>A mutType missense PRF1base_D0067:g.3323delT protEffect L17X50 PRF1base_D0067:g.3323delT mutType frameshift PRF1base_D0067:g.5897A>C protEffect Q481P PRF1base_D0067:g.5897A>C mutType missense PRF1base_D0067:g.3490T>C protEffect C73R PRF1base_D0067:g.3490T>C mutType missense PRF1base_D0067:g.3407G>A protEffect G45E PRF1base_D0067:g.3407G>A mutType missense PRF1base_D0067:g.5113G>A protEffect G220S PRF1base_D0067:g.5113G>A mutType missense PRF1base_D0067:g.3385G>A protEffect V38M PRF1base_D0067:g.3385G>A mutType missense PRF1base_D0067:g.3545C>T protEffect A91V PRF1base_D0067:g.3545C>T mutType missense PRF1base_D0067:g.3389C>A protEffect P39H PRF1base_D0067:g.3389C>A mutType missense PRF1base_D0067:g.3718G>A protEffect G149S PRF1base_D0067:g.3718G>A mutType missense PRF1base_D0067:g.3406G>A protEffect G45R PRF1base_D0067:g.3406G>A mutType missense PRF1base_D0067:g.3433C>T protEffect R54C PRF1base_D0067:g.3433C>T mutType missense PRF1base_D0067:g.3421G>A protEffect V50M PRF1base_D0067:g.3421G>A mutType missense PRF1base_D0067:g.5112C>A protEffect Y219X PRF1base_D0067:g.5112C>A mutType nonsense PRF1base_D0067:g.3463C>T protEffect Q64X PRF1base_D0067:g.3463C>T mutType nonsense PRF1base_D0067:g.3480delC protEffect P69X106 PRF1base_D0067:g.3480delC mutType frameshift PRF1base_D0067:g.5577G>A protEffect W374X PRF1base_D0067:g.5577G>A mutType nonsense PRF1base_D0067:g.5545_5546delCT protEffect L364X456 PRF1base_D0067:g.5545_5546delCT mutType frameshift PRF1base_D0067:g.5683C>T protEffect R410W PRF1base_D0067:g.5683C>T mutType missense PRF1base_D0067:g.3538C>A protEffect P89T PRF1base_D0067:g.3538C>A mutType missense PRF1base_D0067:g.5150G>A protEffect R232H PRF1base_D0067:g.5150G>A mutType missense PRF1base_D0067:g.5717T>G protEffect F421C PRF1base_D0067:g.5717T>G mutType missense PRF1base_D0067:g.3556T>C protEffect W95R PRF1base_D0067:g.3556T>C mutType missense PRF1base_D0067:g.3578G>T protEffect C102F PRF1base_D0067:g.3578G>T mutType missense PRF1base_D0067:g.3641G>A protEffect R123H PRF1base_D0067:g.3641G>A mutType missense PRF1base_D0067:g.5350C>T protEffect R299C PRF1base_D0067:g.5350C>T mutType missense PRF1base_D0067:g.5536A>T protEffect R361W PRF1base_D0067:g.5536A>T mutType missense PRF1base_D0067:g.5241_5256del protEffect A262X283 PRF1base_D0067:g.5241_5256del mutType frameshift PRF1base_D0067:g.3722C>A protEffect S150X PRF1base_D0067:g.3722C>A mutType nonsense PRF1base_D0067:g.5128C>T protEffect R225W PRF1base_D0067:g.5128C>T mutType missense PRF1base_D0067:g.3742T>G protEffect F157V PRF1base_D0067:g.3742T>G mutType missense PRF1base_D0067:g.6083_6084insT protEffect L543X585 PRF1base_D0067:g.6083_6084insT mutType frameshift PRF1base_D0067:g.3776G>A protEffect S168N PRF1base_D0067:g.3776G>A mutType missense PRF1base_D0067:g.5804C>T protEffect T450M PRF1base_D0067:g.5804C>T mutType missense PRF1base_D0067:g.3802C>T protEffect R177C PRF1base_D0067:g.3802C>T mutType missense PRF1base_D0067:g.5003T>G protEffect V183G PRF1base_D0067:g.5003T>G mutType missense PRF1base_D0067:g.5291G>A protEffect C279Y PRF1base_D0067:g.5291G>A mutType missense PRF1base_D0067:g.5032T>C protEffect F193L PRF1base_D0067:g.5032T>C mutType missense PRF1base_D0067:g.5684G>C protEffect R410P PRF1base_D0067:g.5684G>C mutType missense PRF1base_D0067:g.5056C>A protEffect P201T PRF1base_D0067:g.5056C>A mutType missense PRF1base_D0067:g.5308_5310delAAG protEffect K285del PRF1base_D0067:g.5308_5310delAAG mutType inframe PRF1base_D0067:g.5113G>C protEffect G220R PRF1base_D0067:g.5113G>C mutType missense PRF1base_D0067:g.5117C>T protEffect T221I PRF1base_D0067:g.5117C>T mutType missense PRF1base_D0067:g.5121C>A protEffect H222Q PRF1base_D0067:g.5121C>A mutType missense PRF1base_D0067:g.6091delC protEffect P546X612 PRF1base_D0067:g.6091delC mutType frameshift PRF1base_D0067:g.5120A>G protEffect H222R PRF1base_D0067:g.5120A>G mutType missense PRF1base_D0067:g.5126T>A protEffect I224N PRF1base_D0067:g.5126T>A mutType missense PRF1base_D0067:g.5741G>A protEffect G429E PRF1base_D0067:g.5741G>A mutType missense PRF1base_D0067:g.5149C>T protEffect R232C PRF1base_D0067:g.5149C>T mutType missense PRF1base_D0067:g.5636_5637insT protEffect Q394X457 PRF1base_D0067:g.5636_5637insT mutType frameshift PRF1base_D0067:g.5645_5646insTG protEffect C397X420 PRF1base_D0067:g.5645_5646insTG mutType frameshift PRF1base_D0067:g.5173C>G protEffect R240G PRF1base_D0067:g.5173C>G mutType missense PRF1base_D0067:g.5210A>G protEffect N252S PRF1base_D0067:g.5210A>G mutType missense PRF1base_D0067:g.5236G>A protEffect E261K PRF1base_D0067:g.5236G>A mutType missense PRF1base_D0067:g.5306_5317del protEffect 284_288delinsM PRF1base_D0067:g.5306_5317del mutType inframe PRF1base_D0067:g.5369G>A protEffect G305D PRF1base_D0067:g.5369G>A mutType missense PRF1base_D0067:g.5521C>T protEffect R356W PRF1base_D0067:g.5521C>T mutType missense PRF1base_D0067:g.5371G>A protEffect G306S PRF1base_D0067:g.5371G>A mutType missense PRF1base_D0067:g.5743G>T protEffect D430Y PRF1base_D0067:g.5743G>T mutType missense PRF1base_D0067:g.5489C>T protEffect P345L PRF1base_D0067:g.5489C>T mutType missense PRF1base_D0067:g.5538delG protEffect R361X364 PRF1base_D0067:g.5538delG mutType frameshift PRF1base_D0067:g.5946T>A protEffect C497X PRF1base_D0067:g.5946T>A mutType nonsense PRF1base_D0067:g.5701C>T protEffect Q416X PRF1base_D0067:g.5701C>T mutType nonsense PRF1base_D0067:g.5759C>T protEffect T435M PRF1base_D0067:g.5759C>T mutType missense PRF1base_D0067:g.5831C>T protEffect P459L PRF1base_D0067:g.5831C>T mutType missense PRF1base_D0067:g.5884C>G protEffect P477A PRF1base_D0067:g.5884C>G mutType missense PRF1base_D0067:g.5926G>A protEffect D491N PRF1base_D0067:g.5926G>A mutType missense PRF1base_D0067:g.6023C>A protEffect A523D PRF1base_D0067:g.6023C>A mutType missense PRF1base_D0067:g.6031delT protEffect L526X612 PRF1base_D0067:g.6031delT mutType frameshift PTPRCbase_D0068:g.58675C>A protEffect H51Q PTPRCbase_D0068:g.58675C>A mutType missense PTPRCbase_D0068:g.58693C>G protEffect P57P PTPRCbase_D0068:g.58693C>G mutType missense PTPRCbase_D0068:g.71646_71651delATGAGT protEffect 361_363delinsH PTPRCbase_D0068:g.71646_71651delATGAGT mutType inframe PTPRCbase_D0068:g.78746G>A protEffect 482_482delins17 PTPRCbase_D0068:g.78746G>A mutType inframe RAB27Abase_D0069:g.36721_36722delCT protEffect D17X32 RAB27Abase_D0069:g.36721_36722delCT mutType frameshift RAB27Abase_D0069:g.36735A>G protEffect K22R RAB27Abase_D0069:g.36735A>G mutType missense RAB27Abase_D0069:g.36797G>A protEffect G43S RAB27Abase_D0069:g.36797G>A mutType missense RAB27Abase_D0069:g.36801T>C protEffect I44T RAB27Abase_D0069:g.36801T>C mutType missense RAB27Abase_D0069:g.36819delG protEffect R50X84 RAB27Abase_D0069:g.36819delG mutType frameshift RAB27Abase_D0069:g.36818_36819delinsC protEffect R50X84 RAB27Abase_D0069:g.36818_36819delinsC mutType frameshift RAB27Abase_D0069:g.41182T>G protEffect W73G RAB27Abase_D0069:g.41182T>G mutType missense RAB27Abase_D0069:g.41204G>C protEffect R80T RAB27Abase_D0069:g.41204G>C mutType missense RAB27Abase_D0069:g.65982C>T protEffect R184X RAB27Abase_D0069:g.65982C>T mutType nonsense RAB27Abase_D0069:g.42993delA protEffect I114X RAB27Abase_D0069:g.42993delA mutType nonsense RAB27Abase_D0069:g.47595C>T protEffect Q116X RAB27Abase_D0069:g.47595C>T mutType nonsense RAB27Abase_D0069:g.47601C>T protEffect Q118X RAB27Abase_D0069:g.47601C>T mutType nonsense RAB27Abase_D0069:g.47638T>C protEffect L130P RAB27Abase_D0069:g.47638T>C mutType missense RAB27Abase_D0069:g.47649_47650delAA protEffect K134X135 RAB27Abase_D0069:g.47649_47650delAA mutType frameshift RAB27Abase_D0069:g.47703G>C protEffect A152P RAB27Abase_D0069:g.47703G>C mutType missense RAB27Abase_D0069:g.65942_65946delAAGCC protEffect I170X173 RAB27Abase_D0069:g.65942_65946delAAGCC mutType frameshift RAB27Abase_D0069:g.65946_65950delCAAGC protEffect Q172X173 RAB27Abase_D0069:g.65946_65950delCAAGC mutType frameshift RAB27Abase_D0069:g.66030C>T protEffect R200X RAB27Abase_D0069:g.66030C>T mutType nonsense RAB27Abase_D0069:g.41207A>G protEffect V52X54 RAB27Abase_D0069:g.41207A>G mutType deletion RAC2base_D0070:g.12413G>A protEffect D57N RAC2base_D0070:g.12413G>A mutType missense RAG1base_RAG1_DNA:g.6546_6548delCTA protEffect 85_86delinsQ RAG1base_RAG1_DNA:g.6546_6548delCTA mutType inframe RAG1base_RAG1_DNA:g.8438C>T protEffect R716W RAG1base_RAG1_DNA:g.8438C>T mutType missense RAG1base_RAG1_DNA:g.8779_8780delinsTT protEffect R829X830 RAG1base_RAG1_DNA:g.8779_8780delinsTT mutType complex RAG1base_HSRAG1:g.368_369delAA protEffect K86X118 RAG1base_HSRAG1:g.368_369delAA mutType frameshift RAG1base_HSRAG1:g.1398A>G protEffect D429G RAG1base_HSRAG1:g.1398A>G mutType missense RAG1base_HSRAG1:g.1982C>T protEffect R624C RAG1base_HSRAG1:g.1982C>T mutType missense RAG1base_HSRAG1:g.2038_2039ins protEffect V643X651 RAG1base_HSRAG1:g.2038_2039ins mutType frameshift RAG1base_HSRAG1:g.2276G>A protEffect E722K RAG1base_HSRAG1:g.2276G>A mutType missense RAG1base_RAG1_DNA:g.6548_6549delAA protEffect K86X118 RAG1base_RAG1_DNA:g.6548_6549delAA mutType frameshift RAG1base_RAG1_DNA:g.7291T>A protEffect Y333X RAG1base_RAG1_DNA:g.7291T>A mutType nonsense RAG1base_RAG1_DNA:g.6698A>C protEffect K136Q RAG1base_RAG1_DNA:g.6698A>C mutType missense RAG1base_RAG1_DNA:g.6867G>A protEffect C192Y RAG1base_RAG1_DNA:g.6867G>A mutType missense RAG1base_RAG1_DNA:g.6716C>T protEffect R142X RAG1base_RAG1_DNA:g.6716C>T mutType nonsense RAG1base_RAG1_DNA:g.7479G>A protEffect R396H RAG1base_RAG1_DNA:g.7479G>A mutType missense RAG1base_HSRAG1:g.631delT protEffect T173X200 RAG1base_HSRAG1:g.631delT mutType frameshift RAG1base_RAG1_DNA:g.6811delT protEffect T173X200 RAG1base_RAG1_DNA:g.6811delT mutType frameshift RAG1base_RAG1_DNA:g.7034C>T protEffect Q248X RAG1base_RAG1_DNA:g.7034C>T mutType nonsense RAG1base_RAG1_DNA:g.8813C>T protEffect R841W RAG1base_RAG1_DNA:g.8813C>T mutType missense RAG1base_RAG1_DNA:g.7057delA protEffect A255X263 RAG1base_RAG1_DNA:g.7057delA mutType frameshift RAG1base_RAG1_DNA:g.7503G>A protEffect R404Q RAG1base_RAG1_DNA:g.7503G>A mutType missense RAG1base_HSRAG1:g.887delA protEffect S259X263 RAG1base_HSRAG1:g.887delA mutType frameshift RAG1base_RAG1_DNA:g.7232C>T protEffect R314W RAG1base_RAG1_DNA:g.7232C>T mutType missense RAG1base_RAG1_DNA:g.7811C>T protEffect R507W RAG1base_RAG1_DNA:g.7811C>T mutType missense RAG1base_RAG1_DNA:g.8502G>A protEffect R737H RAG1base_RAG1_DNA:g.8502G>A mutType missense RAG1base_HSRAG1:g.1095G>A protEffect C328Y RAG1base_HSRAG1:g.1095G>A mutType missense RAG1base_HSRAG1:g.1173delT protEffect L354X356 RAG1base_HSRAG1:g.1173delT mutType frameshift RAG1base_HSRAG1:g.2727T>A protEffect F872X RAG1base_HSRAG1:g.2727T>A mutType nonsense RAG1base_HSRAG1:g.1258delA protEffect 382_382delins21 RAG1base_HSRAG1:g.1258delA mutType frameshift RAG1base_RAG1_DNA:g.7472C>T protEffect R394W RAG1base_RAG1_DNA:g.7472C>T mutType missense RAG1base_HSRAG1:g.1298C>T protEffect R396C RAG1base_HSRAG1:g.1298C>T mutType missense RAG1base_HSRAG1:g.2766T>G protEffect L885R RAG1base_HSRAG1:g.2766T>G mutType missense RAG1base_HSRAG1:g.2847A>G protEffect Y912C RAG1base_HSRAG1:g.2847A>G mutType missense RAG1base_RAG1_DNA:g.7478C>T protEffect R396C RAG1base_RAG1_DNA:g.7478C>T mutType missense RAG1base_RAG1_DNA:g.8946T>G protEffect L885R RAG1base_RAG1_DNA:g.8946T>G mutType missense RAG1base_HSRAG1:g.1299G>A protEffect R396H RAG1base_HSRAG1:g.1299G>A mutType missense RAG1base_HSRAG1:g.1723_1735del protEffect I537X566 RAG1base_HSRAG1:g.1723_1735del mutType frameshift RAG1base_HSRAG1:g.1299G>T protEffect R396L RAG1base_HSRAG1:g.1299G>T mutType missense RAG1base_HSRAG1:g.3036G>A protEffect R975Q RAG1base_HSRAG1:g.3036G>A mutType missense RAG1base_RAG1_DNA:g.7973C>T protEffect R561C RAG1base_RAG1_DNA:g.7973C>T mutType missense RAG1base_RAG1_DNA:g.7502C>T protEffect R404W RAG1base_RAG1_DNA:g.7502C>T mutType missense RAG1base_RAG1_DNA:g.8915delT protEffect S875X882 RAG1base_RAG1_DNA:g.8915delT mutType frameshift RAG1base_HSRAG1:g.1341G>A protEffect R410Q RAG1base_HSRAG1:g.1341G>A mutType missense RAG1base_HSRAG1:g.2633C>T protEffect R841W RAG1base_HSRAG1:g.2633C>T mutType missense RAG1base_HSRAG1:g.1409G>A protEffect V433M RAG1base_HSRAG1:g.1409G>A mutType missense RAG1base_HSRAG1:g.1443C>T protEffect A444V RAG1base_HSRAG1:g.1443C>T mutType missense RAG1base_HSRAG1:g.1415A>G protEffect M435V RAG1base_HSRAG1:g.1415A>G mutType missense RAG1base_HSRAG1:g.1789G>T protEffect R559S RAG1base_HSRAG1:g.1789G>T mutType missense RAG1base_RAG1_DNA:g.7638G>A protEffect R449K RAG1base_RAG1_DNA:g.7638G>A mutType missense RAG1base_HSRAG1:g.1521_1522delGC protEffect C470X509 RAG1base_HSRAG1:g.1521_1522delGC mutType frameshift RAG1base_HSRAG1:g.1533G>A protEffect R474H RAG1base_HSRAG1:g.1533G>A mutType missense RAG1base_HSRAG1:g.2370A>T protEffect H753L RAG1base_HSRAG1:g.2370A>T mutType missense RAG1base_RAG1_DNA:g.7713G>A protEffect R474H RAG1base_RAG1_DNA:g.7713G>A mutType missense RAG1base_RAG1_DNA:g.8481G>T protEffect C730F RAG1base_RAG1_DNA:g.8481G>T mutType missense RAG1base_RAG1_DNA:g.8162C>T protEffect R624C RAG1base_RAG1_DNA:g.8162C>T mutType missense RAG1base_RAG1_DNA:g.7712C>A protEffect R474S RAG1base_RAG1_DNA:g.7712C>A mutType missense RAG1base_RAG1_DNA:g.8156G>C protEffect A622P RAG1base_RAG1_DNA:g.8156G>C mutType missense RAG1base_HSRAG1:g.1631C>T protEffect R507W RAG1base_HSRAG1:g.1631C>T mutType missense RAG1base_HSRAG1:g.1793C>T protEffect R561C RAG1base_HSRAG1:g.1793C>T mutType missense RAG1base_HSRAG1:g.1678G>T protEffect W522C RAG1base_HSRAG1:g.1678G>T mutType missense RAG1base_RAG1_DNA:g.7969G>T protEffect R559S RAG1base_RAG1_DNA:g.7969G>T mutType missense RAG1base_RAG1_DNA:g.8981C>T protEffect R897X RAG1base_RAG1_DNA:g.8981C>T mutType nonsense RAG1base_HSRAG1:g.1794G>A protEffect R561H RAG1base_HSRAG1:g.1794G>A mutType missense RAG1base_HSRAG1:g.2322G>A protEffect R737H RAG1base_HSRAG1:g.2322G>A mutType missense RAG1base_RAG1_DNA:g.7974G>A protEffect R561H RAG1base_RAG1_DNA:g.7974G>A mutType missense RAG1base_RAG1_DNA:g.7986C>A protEffect A565D RAG1base_RAG1_DNA:g.7986C>A mutType missense RAG1base_HSRAG1:g.1879C>G protEffect Y589X RAG1base_HSRAG1:g.1879C>G mutType nonsense RAG1base_RAG1_DNA:g.8059C>G protEffect Y589X RAG1base_RAG1_DNA:g.8059C>G mutType nonsense RAG1base_RAG1_DNA:g.8098T>G protEffect C602W RAG1base_RAG1_DNA:g.8098T>G mutType missense RAG1base_HSRAG1:g.1983G>A protEffect R624H RAG1base_HSRAG1:g.1983G>A mutType missense RAG1base_HSRAG1:g.2801C>T protEffect R897X RAG1base_HSRAG1:g.2801C>T mutType nonsense RAG1base_RAG1_DNA:g.8163G>A protEffect R624H RAG1base_RAG1_DNA:g.8163G>A mutType missense RAG1base_RAG1_DNA:g.9266A>G protEffect K992E RAG1base_RAG1_DNA:g.9266A>G mutType missense RAG1base_RAG1_DNA:g.8239delT protEffect P649X671 RAG1base_RAG1_DNA:g.8239delT mutType frameshift RAG1base_RAG1_DNA:g.8294delC protEffect H668X671 RAG1base_RAG1_DNA:g.8294delC mutType frameshift RAG1base_HSRAG1:g.2118A>G protEffect E669G RAG1base_HSRAG1:g.2118A>G mutType missense RAG1base_HSRAG1:g.2812C>A protEffect C900X RAG1base_HSRAG1:g.2812C>A mutType nonsense RAG1base_HSRAG1:g.2182_2189delAATGCTTG protEffect L690X708 RAG1base_HSRAG1:g.2182_2189delAATGCTTG mutType frameshift RAG1base_RAG1_DNA:g.8418G>A protEffect G709D RAG1base_RAG1_DNA:g.8418G>A mutType missense RAG1base_HSRAG1:g.2432G>T protEffect E774X RAG1base_HSRAG1:g.2432G>T mutType nonsense RAG1base_RAG1_DNA:g.8486C>T protEffect L732F RAG1base_RAG1_DNA:g.8486C>T mutType missense RAG1base_RAG1_DNA:g.8619G>A protEffect R776Q RAG1base_RAG1_DNA:g.8619G>A mutType missense RAG1base_RAG1_DNA:g.9227_9229delGCC protEffect A979del RAG1base_RAG1_DNA:g.9227_9229delGCC mutType inframe RAG1base_RAG1_DNA:g.8624C>G protEffect R778G RAG1base_RAG1_DNA:g.8624C>G mutType missense RAG1base_RAG1_DNA:g.9267A>G protEffect K992R RAG1base_RAG1_DNA:g.9267A>G mutType missense RAG1base_RAG1_DNA:g.8625G>A protEffect R778Q RAG1base_RAG1_DNA:g.8625G>A mutType missense RAG1base_RAG1_DNA:g.9215C>T protEffect R975W RAG1base_RAG1_DNA:g.9215C>T mutType missense RAG1base_RAG1_DNA:g.8624C>T protEffect R778W RAG1base_RAG1_DNA:g.8624C>T mutType missense RAG1base_HSRAG1:g.2676A>T protEffect N855I RAG1base_HSRAG1:g.2676A>T mutType missense RAG1base_RAG1_DNA:g.8978T>C protEffect W896R RAG1base_RAG1_DNA:g.8978T>C mutType missense RAG1base_HSRAG1:g.2926T>G protEffect Y938X RAG1base_HSRAG1:g.2926T>G mutType nonsense RAG1base_RAG1_DNA:g.9159T>C protEffect I956T RAG1base_RAG1_DNA:g.9159T>C mutType missense RAG1base_HSRAG1:g.2988G>A protEffect W959X RAG1base_HSRAG1:g.2988G>A mutType nonsense RAG1base_RAG1_DNA:g.9210G>A protEffect R973H RAG1base_RAG1_DNA:g.9210G>A mutType missense RAG1base_RAG1_DNA:g.9234A>C protEffect Q981P RAG1base_RAG1_DNA:g.9234A>C mutType missense RAG2base_RAG2_DNA:g.5114C>T protEffect Q16X RAG2base_RAG2_DNA:g.5114C>T mutType nonsense RAG2base_HSRAG2X:g.1305G>T protEffect G35V RAG2base_HSRAG2X:g.1305G>T mutType missense RAG2base_RAG2_DNA:g.5172G>T protEffect G35V RAG2base_RAG2_DNA:g.5172G>T mutType missense RAG2base_HSRAG2X:g.1316A>G protEffect R39G RAG2base_HSRAG2X:g.1316A>G mutType missense RAG2base_HSRAG2X:g.1887G>A protEffect R229Q RAG2base_HSRAG2X:g.1887G>A mutType missense RAG2base_RAG2_DNA:g.5183A>G protEffect R39G RAG2base_RAG2_DNA:g.5183A>G mutType missense RAG2base_RAG2_DNA:g.5754G>A protEffect R229Q RAG2base_RAG2_DNA:g.5754G>A mutType missense RAG2base_HSRAG2X:g.1324C>G protEffect C41W RAG2base_HSRAG2X:g.1324C>G mutType missense RAG2base_HSRAG2X:g.2055T>G protEffect M285R RAG2base_HSRAG2X:g.2055T>G mutType missense RAG2base_RAG2_DNA:g.5298C>A protEffect T77N RAG2base_RAG2_DNA:g.5298C>A mutType missense RAG2base_RAG2_DNA:g.6420G>C protEffect G451A RAG2base_RAG2_DNA:g.6420G>C mutType missense RAG2base_HSRAG2X:g.1484G>A protEffect G95R RAG2base_HSRAG2X:g.1484G>A mutType missense RAG2base_HSRAG2X:g.2558T>A protEffect W453R RAG2base_HSRAG2X:g.2558T>A mutType missense RAG2base_RAG2_DNA:g.5351G>A protEffect G95R RAG2base_RAG2_DNA:g.5351G>A mutType missense RAG2base_RAG2_DNA:g.5753C>T protEffect R229W RAG2base_RAG2_DNA:g.5753C>T mutType missense RAG2base_HSRAG2X:g.1664_1665insTGTTC protEffect L155X177 RAG2base_HSRAG2X:g.1664_1665insTGTTC mutType frameshift RAG2base_HSRAG2X:g.1643C>T protEffect R148X RAG2base_HSRAG2X:g.1643C>T mutType nonsense RAG2base_HSRAG2X:g.1818T>G protEffect F206C RAG2base_HSRAG2X:g.1818T>G mutType missense RAG2base_RAG2_DNA:g.5547C>T protEffect S160L RAG2base_RAG2_DNA:g.5547C>T mutType missense RAG2base_RAG2_DNA:g.6572A>G protEffect M502V RAG2base_RAG2_DNA:g.6572A>G mutType missense RAG2base_RAG2_DNA:g.5649C>A protEffect S194X RAG2base_RAG2_DNA:g.5649C>A mutType nonsense RAG2base_RAG2_DNA:g.5651T>G protEffect Y195D RAG2base_RAG2_DNA:g.5651T>G mutType missense RAG2base_RAG2_DNA:g.5712C>T protEffect T215I RAG2base_RAG2_DNA:g.5712C>T mutType missense RAG2base_HSRAG2X:g.1886C>T protEffect R229W RAG2base_HSRAG2X:g.1886C>T mutType missense RAG2base_RAG2_DNA:g.5780delG protEffect V238X247 RAG2base_RAG2_DNA:g.5780delG mutType frameshift RAG2base_RAG2_DNA:g.6388A>C protEffect K440N RAG2base_RAG2_DNA:g.6388A>C mutType missense RAG2base_RAG2_DNA:g.5826C>G protEffect P253R RAG2base_RAG2_DNA:g.5826C>G mutType missense RAG2base_HSRAG2X:g.2018_2020delATT protEffect I273del RAG2base_HSRAG2X:g.2018_2020delATT mutType inframe RAG2base_HSRAG2X:g.2122G>A protEffect W307X RAG2base_HSRAG2X:g.2122G>A mutType nonsense RAG2base_RAG2_DNA:g.6287G>T protEffect E407X RAG2base_RAG2_DNA:g.6287G>T mutType nonsense RAG2base_RAG2_DNA:g.6315G>T protEffect W416L RAG2base_RAG2_DNA:g.6315G>T mutType missense RAG2base_RAG2_DNA:g.6425T>A protEffect W453R RAG2base_RAG2_DNA:g.6425T>A mutType missense RAG2base_RAG2_DNA:g.6434G>A protEffect A456T RAG2base_RAG2_DNA:g.6434G>A mutType missense RAG2base_HSRAG2X:g.2622A>G protEffect N474S RAG2base_HSRAG2X:g.2622A>G mutType missense RAG2base_HSRAG2X:g.2634G>A protEffect C478Y RAG2base_HSRAG2X:g.2634G>A mutType missense RAG2base_RAG2_DNA:g.6510A>C protEffect H481P RAG2base_RAG2_DNA:g.6510A>C mutType missense RFX5base_D0073:g.32168G>A protEffect R149Q RFX5base_D0073:g.32168G>A mutType missense RFX5base_D0073:g.33455C>T protEffect R294X RFX5base_D0073:g.33455C>T mutType nonsense RFX5base_D0073:g.33536C>T protEffect Q321X RFX5base_D0073:g.33536C>T mutType nonsense RFX5base_D0073:g.30412G>A protEffect G36X43 RFX5base_D0073:g.30412G>A mutType frameshift RFX5base_D0073:g.31423G>A protEffect Q51X83 RFX5base_D0073:g.31423G>A mutType frameshift RFX5base_D0073:g.31764G>A protEffect S78X85 RFX5base_D0073:g.31764G>A mutType frameshift RFXANKbase_D0074:g.5932G>T protEffect E102X RFXANKbase_D0074:g.5932G>T mutType nonsense RFXANKbase_D0074:g.6259A>T protEffect D121V RFXANKbase_D0074:g.6259A>T mutType missense RFXANKbase_D0074:g.6280delT protEffect L128X203 RFXANKbase_D0074:g.6280delT mutType frameshift RFXANKbase_D0074:g.6820G>T protEffect G147_W188del RFXANKbase_D0074:g.6820G>T mutType inframe RFXANKbase_D0074:g.6851C>T protEffect R157X RFXANKbase_D0074:g.6851C>T mutType nonsense RFXANKbase_D0074:g.7390T>C protEffect L195P RFXANKbase_D0074:g.7390T>C mutType missense RFXANKbase_D0074:g.7870C>T protEffect R212X RFXANKbase_D0074:g.7870C>T mutType nonsense RFXANKbase_D0074:g.5761G>C protEffect 63_91delinsA RFXANKbase_D0074:g.5761G>C mutType inframe RFXANKbase_D0074:g.6210_6235del protEffect S91X124 RFXANKbase_D0074:g.6210_6235del mutType deletion RFXANKbase_D0074:g.6313_6370del protEffect S91X124 RFXANKbase_D0074:g.6313_6370del mutType deletion RFXAPbase_D0075:g.52509_52510insGCGGGGC protEffect P12X74 RFXAPbase_D0075:g.52509_52510insGCGGGGC mutType frameshift RFXAPbase_D0075:g.52638C>T protEffect Q55X RFXAPbase_D0075:g.52638C>T mutType nonsense RFXAPbase_D0075:g.52843delG protEffect S123X137 RFXAPbase_D0075:g.52843delG mutType frameshift SBDSbase_D0076:g.1240G>A protEffect R19Q SBDSbase_D0076:g.1240G>A mutType missense SBDSbase_D0076:g.2392T>C protEffect C84X87 SBDSbase_D0076:g.2392T>C mutType deletion SBDSbase_D0076:g.1263T>C protEffect F27L SBDSbase_D0076:g.1263T>C mutType missense SBDSbase_D0076:g.2315_2316delinsCT protEffect S61X62 SBDSbase_D0076:g.2315_2316delinsCT mutType complex SBDSbase_D0076:g.1277C>G protEffect C31W SBDSbase_D0076:g.1277C>G mutType missense SBDSbase_D0076:g.1279A>G protEffect Y32C SBDSbase_D0076:g.1279A>G mutType missense SBDSbase_D0076:g.1281A>G protEffect K33E SBDSbase_D0076:g.1281A>G mutType missense SBDSbase_D0076:g.1285A>T protEffect N34I SBDSbase_D0076:g.1285A>T mutType missense SBDSbase_D0076:g.1285A>G protEffect N34S SBDSbase_D0076:g.1285A>G mutType missense SBDSbase_D0076:g.1284dupA protEffect N34X49 SBDSbase_D0076:g.1284dupA mutType frameshift SBDSbase_D0076:g.1291delT protEffect V36X58 SBDSbase_D0076:g.1291delT mutType frameshift SBDSbase_D0076:g.1303delG protEffect R40X58 SBDSbase_D0076:g.1303delG mutType frameshift SBDSbase_D0076:g.1307delC protEffect S41X58 SBDSbase_D0076:g.1307delC mutType frameshift SBDSbase_D0076:g.2263A>G protEffect E44G SBDSbase_D0076:g.2263A>G mutType missense SBDSbase_D0076:g.3280A>C protEffect K118N SBDSbase_D0076:g.3280A>C mutType missense SBDSbase_D0076:g.2344T>C protEffect L71P SBDSbase_D0076:g.2344T>C mutType missense SBDSbase_D0076:g.2382T>C protEffect C84R SBDSbase_D0076:g.2382T>C mutType missense SBDSbase_D0076:g.3186T>C protEffect I87T SBDSbase_D0076:g.3186T>C mutType missense SBDSbase_D0076:g.3205_3210delTCAAGT protEffect 93_95delinsV SBDSbase_D0076:g.3205_3210delTCAAGT mutType inframe SBDSbase_D0076:g.3218_3221delAAAG protEffect K98X119 SBDSbase_D0076:g.3218_3221delAAAG mutType frameshift SBDSbase_D0076:g.3233_3234delCA protEffect Q103X108 SBDSbase_D0076:g.3233_3234delCA mutType frameshift SBDSbase_D0076:g.3288A>C protEffect N121T SBDSbase_D0076:g.3288A>C mutType missense SBDSbase_D0076:g.5364C>T protEffect R175W SBDSbase_D0076:g.5364C>T mutType missense SBDSbase_D0076:g.3354C>T protEffect S143L SBDSbase_D0076:g.3354C>T mutType missense SBDSbase_D0076:g.3369A>G protEffect K148R SBDSbase_D0076:g.3369A>G mutType missense SBDSbase_D0076:g.3354C>G protEffect S143W SBDSbase_D0076:g.3354C>G mutType missense SBDSbase_D0076:g.3384A>G protEffect Q153R SBDSbase_D0076:g.3384A>G mutType missense SBDSbase_D0076:g.5346C>T protEffect R169C SBDSbase_D0076:g.5346C>T mutType missense SBDSbase_D0076:g.5347G>T protEffect R169L SBDSbase_D0076:g.5347G>T mutType missense SBDSbase_D0076:g.8130C>T protEffect R218X SBDSbase_D0076:g.8130C>T mutType nonsense SERPING1base_D0077:g.5656_5657delinsAA protEffect F225X SERPING1base_D0077:g.5656_5657delinsAA mutType nonsense SERPING1base_D0077:g.1769A>G protEffect M1V SERPING1base_D0077:g.1769A>G mutType missense SERPING1base_D0077:g.1778_1779dupGGCCTCCA protEffect R4X8 SERPING1base_D0077:g.1778_1779dupGGCCTCCA mutType frameshift SERPING1base_D0077:g.3391C>G protEffect S22X SERPING1base_D0077:g.3391C>G mutType nonsense SERPING1base_D0077:g.3393_3463del protEffect 23_46delins11 SERPING1base_D0077:g.3393_3463del mutType frameshift SERPING1base_D0077:g.3420C>T protEffect Q32X SERPING1base_D0077:g.3420C>T mutType nonsense SERPING1base_D0077:g.3432_3433delAG protEffect 36_36delins21 SERPING1base_D0077:g.3432_3433delAG mutType frameshift SERPING1base_D0077:g.3446_3447delAG protEffect R40X56 SERPING1base_D0077:g.3446_3447delAG mutType frameshift SERPING1base_D0077:g.3446delA protEffect R40X78 SERPING1base_D0077:g.3446delA mutType frameshift SERPING1base_D0077:g.3486delC protEffect L54X78 SERPING1base_D0077:g.3486delC mutType frameshift SERPING1base_D0077:g.3490delT protEffect F55X78 SERPING1base_D0077:g.3490delT mutType frameshift SERPING1base_D0077:g.3513delT protEffect S63X78 SERPING1base_D0077:g.3513delT mutType frameshift SERPING1base_D0077:g.3535C>G protEffect S70X SERPING1base_D0077:g.3535C>G mutType nonsense SERPING1base_D0077:g.3596delC protEffect P90X147 SERPING1base_D0077:g.3596delC mutType frameshift SERPING1base_D0077:g.3617_3621delACCCA protEffect Q97X130 SERPING1base_D0077:g.3617_3621delACCCA mutType frameshift SERPING1base_D0077:g.3640_3643delCAAC protEffect P105X146 SERPING1base_D0077:g.3640_3643delCAAC mutType frameshift SERPING1base_D0077:g.3649dupA protEffect Q108X132 SERPING1base_D0077:g.3649dupA mutType frameshift SERPING1base_D0077:g.3672C>T protEffect Q116X SERPING1base_D0077:g.3672C>T mutType nonsense SERPING1base_D0077:g.3715G>A protEffect C130Y SERPING1base_D0077:g.3715G>A mutType missense SERPING1base_D0077:g.3716_3717delCT protEffect C130X131 SERPING1base_D0077:g.3716_3717delCT mutType frameshift SERPING1base_D0077:g.3756delG protEffect D144X147 SERPING1base_D0077:g.3756delG mutType frameshift SERPING1base_D0077:g.3761_3802del protEffect 145_159delinsA SERPING1base_D0077:g.3761_3802del mutType inframe SERPING1base_D0077:g.3788C>G protEffect Y154X SERPING1base_D0077:g.3788C>G mutType nonsense SERPING1base_D0077:g.3832T>C protEffect F169S SERPING1base_D0077:g.3832T>C mutType missense SERPING1base_D0077:g.3834T>C protEffect S170P SERPING1base_D0077:g.3834T>C mutType missense SERPING1base_D0077:g.3838C>T protEffect P171L SERPING1base_D0077:g.3838C>T mutType missense SERPING1base_D0077:g.5533G>A protEffect G184E SERPING1base_D0077:g.5533G>A mutType missense SERPING1base_D0077:g.3876G>A protEffect G184R SERPING1base_D0077:g.3876G>A mutType missense SERPING1base_D0077:g.3876G>C protEffect G184R SERPING1base_D0077:g.3876G>C mutType missense SERPING1base_D0077:g.5553delA protEffect T191X210 SERPING1base_D0077:g.5553delA mutType frameshift SERPING1base_D0077:g.5553dupA protEffect T191X256 SERPING1base_D0077:g.5553dupA mutType frameshift SERPING1base_D0077:g.5560T>C protEffect L193P SERPING1base_D0077:g.5560T>C mutType missense SERPING1base_D0077:g.5577T>A protEffect Y199N SERPING1base_D0077:g.5577T>A mutType missense SERPING1base_D0077:g.5582delC protEffect 200_200delins11 SERPING1base_D0077:g.5582delC mutType frameshift SERPING1base_D0077:g.5596G>A protEffect C205Y SERPING1base_D0077:g.5596G>A mutType missense SERPING1base_D0077:g.5604delC protEffect Q208X210 SERPING1base_D0077:g.5604delC mutType frameshift SERPING1base_D0077:g.5610delC protEffect L210X SERPING1base_D0077:g.5610delC mutType nonsense SERPING1base_D0077:g.5642dupA protEffect V221X256 SERPING1base_D0077:g.5642dupA mutType frameshift SERPING1base_D0077:g.5649C>T protEffect Q223X SERPING1base_D0077:g.5649C>T mutType nonsense SERPING1base_D0077:g.5653T>G protEffect I224S SERPING1base_D0077:g.5653T>G mutType missense SERPING1base_D0077:g.9684_9685delinsAA protEffect V288E SERPING1base_D0077:g.9684_9685delinsAA mutType missense SERPING1base_D0077:g.9528T>C protEffect F236S SERPING1base_D0077:g.9528T>C mutType missense SERPING1base_D0077:g.9552_9553delinsT protEffect Y244X251 SERPING1base_D0077:g.9552_9553delinsT mutType frameshift SERPING1base_D0077:g.9564C>G protEffect P248R SERPING1base_D0077:g.9564C>G mutType missense SERPING1base_D0077:g.9565delC protEffect P248X251 SERPING1base_D0077:g.9565delC mutType frameshift SERPING1base_D0077:g.9572delC protEffect L251X SERPING1base_D0077:g.9572delC mutType nonsense SERPING1base_D0077:g.1142C>G mutType upstream SERPING1base_D0077:g.9637_9639delCAA protEffect 272_273delinsK SERPING1base_D0077:g.9637_9639delCAA mutType inframe SERPING1base_D0077:g.9599G>T protEffect E260X SERPING1base_D0077:g.9599G>T mutType nonsense SERPING1base_D0077:g.9616G>A protEffect W265X SERPING1base_D0077:g.9616G>A mutType nonsense SERPING1base_D0077:g.9630_9631dupAACAC protEffect 270_270delins11 SERPING1base_D0077:g.9630_9631dupAACAC mutType frameshift SERPING1base_D0077:g.9638_9640delAAG protEffect K273del SERPING1base_D0077:g.9638_9640delAAG mutType inframe SERPING1base_D0077:g.9639_9641delAGA protEffect 273_274delinsI SERPING1base_D0077:g.9639_9641delAGA mutType inframe SERPING1base_D0077:g.9641A>G protEffect I274V SERPING1base_D0077:g.9641A>G mutType missense SERPING1base_D0077:g.9675_9676delCC protEffect T285X303 SERPING1base_D0077:g.9675_9676delCC mutType frameshift SERPING1base_D0077:g.9699T>C protEffect I293T SERPING1base_D0077:g.9699T>C mutType missense SERPING1base_D0077:g.9699_9702delTCTA protEffect I293X294 SERPING1base_D0077:g.9699_9702delTCTA mutType frameshift SERPING1base_D0077:g.9705T>G protEffect L295R SERPING1base_D0077:g.9705T>G mutType missense SERPING1base_D0077:g.9919_9921delACA protEffect T302del SERPING1base_D0077:g.9919_9921delACA mutType inframe SERPING1base_D0077:g.9923T>G protEffect F303C SERPING1base_D0077:g.9923T>G mutType missense SERPING1base_D0077:g.9989T>C protEffect M325T SERPING1base_D0077:g.9989T>C mutType missense SERPING1base_D0077:g.9996_9997delCA protEffect S327X336 SERPING1base_D0077:g.9996_9997delCA mutType frameshift SERPING1base_D0077:g.10005C>G protEffect Y330X SERPING1base_D0077:g.10005C>G mutType nonsense SERPING1base_D0077:g.15213_15432del protEffect V344X357 SERPING1base_D0077:g.15213_15432del mutType deletion SERPING1base_D0077:g.15216G>A protEffect G345R SERPING1base_D0077:g.15216G>A mutType missense SERPING1base_D0077:g.15219C>T protEffect Q346X SERPING1base_D0077:g.15219C>T mutType nonsense SERPING1base_D0077:g.15252delA protEffect I357X363 SERPING1base_D0077:g.15252delA mutType frameshift SERPING1base_D0077:g.15264C>T protEffect Q361X SERPING1base_D0077:g.15264C>T mutType nonsense SERPING1base_D0077:g.15289delA protEffect D369X396 SERPING1base_D0077:g.15289delA mutType frameshift SERPING1base_D0077:g.15297C>T protEffect Q372X SERPING1base_D0077:g.15297C>T mutType nonsense SERPING1base_D0077:g.15319T>C protEffect F379S SERPING1base_D0077:g.15319T>C mutType missense SERPING1base_D0077:g.15363A>C protEffect T394P SERPING1base_D0077:g.15363A>C mutType missense SERPING1base_D0077:g.15379C>T protEffect P399L SERPING1base_D0077:g.15379C>T mutType missense SERPING1base_D0077:g.15379C>G protEffect P399R SERPING1base_D0077:g.15379C>G mutType missense SERPING1base_D0077:g.15386dupC protEffect K402X424 SERPING1base_D0077:g.15386dupC mutType frameshift SERPING1base_D0077:g.15406A>T protEffect D408V SERPING1base_D0077:g.15406A>T mutType missense SERPING1base_D0077:g.15409T>C protEffect M409T SERPING1base_D0077:g.15409T>C mutType missense SERPING1base_D0077:g.15410delG protEffect M409X430 SERPING1base_D0077:g.15410delG mutType frameshift SERPING1base_D0077:g.15415C>A protEffect S411X SERPING1base_D0077:g.15415C>A mutType nonsense SERPING1base_D0077:g.17838delT protEffect S422X430 SERPING1base_D0077:g.17838delT mutType frameshift SERPING1base_D0077:g.17842dupA protEffect Y423X SERPING1base_D0077:g.17842dupA mutType nonsense SERPING1base_D0077:g.17858_17859delTG protEffect C428X471 SERPING1base_D0077:g.17858_17859delTG mutType frameshift SERPING1base_D0077:g.17880delC protEffect L436X449 SERPING1base_D0077:g.17880delC mutType frameshift SERPING1base_D0077:g.17890delC protEffect 439_439delins11 SERPING1base_D0077:g.17890delC mutType frameshift SERPING1base_D0077:g.17889delT protEffect 439_439delins11 SERPING1base_D0077:g.17889delT mutType frameshift SERPING1base_D0077:g.17902A>G protEffect H443R SERPING1base_D0077:g.17902A>G mutType missense SERPING1base_D0077:g.17917_17919delinsT protEffect E448X471 SERPING1base_D0077:g.17917_17919delinsT mutType frameshift SERPING1base_D0077:g.17925_17926delGA protEffect 451_451delins21 SERPING1base_D0077:g.17925_17926delGA mutType frameshift SERPING1base_D0077:g.17924dupA protEffect E451X472 SERPING1base_D0077:g.17924dupA mutType frameshift SERPING1base_D0077:g.17931_17932insTGT protEffect 453_453delinsVW SERPING1base_D0077:g.17931_17932insTGT mutType inframe SERPING1base_D0077:g.17935T>A protEffect V454E SERPING1base_D0077:g.17935T>A mutType missense SERPING1base_D0077:g.17934_17967del protEffect V454X535 SERPING1base_D0077:g.17934_17967del mutType frameshift SERPING1base_D0077:g.17941C>A protEffect A456E SERPING1base_D0077:g.17941C>A mutType missense SERPING1base_D0077:g.17946G>A protEffect A458T SERPING1base_D0077:g.17946G>A mutType missense SERPING1base_D0077:g.17952T>C protEffect S460P SERPING1base_D0077:g.17952T>C mutType missense SERPING1base_D0077:g.17956_17957dup protEffect A461X555 SERPING1base_D0077:g.17956_17957dup mutType frameshift SERPING1base_D0077:g.17959T>G protEffect I462S SERPING1base_D0077:g.17959T>G mutType missense SERPING1base_D0077:g.17957dupC protEffect 462_462delins11 SERPING1base_D0077:g.17957dupC mutType frameshift SERPING1base_D0077:g.17970C>T protEffect R466C SERPING1base_D0077:g.17970C>T mutType missense SERPING1base_D0077:g.17971G>A protEffect R466H SERPING1base_D0077:g.17971G>A mutType missense SERPING1base_D0077:g.17971G>T protEffect R466L SERPING1base_D0077:g.17971G>T mutType missense SERPING1base_D0077:g.17971G>C protEffect R466P SERPING1base_D0077:g.17971G>C mutType missense SERPING1base_D0077:g.17970C>A protEffect R466S SERPING1base_D0077:g.17970C>A mutType missense SERPING1base_D0077:g.17973A>C protEffect T467P SERPING1base_D0077:g.17973A>C mutType missense SERPING1base_D0077:g.17972_17973dup protEffect T467X553 SERPING1base_D0077:g.17972_17973dup mutType frameshift SERPING1base_D0077:g.17992T>A protEffect V473E SERPING1base_D0077:g.17992T>A mutType missense SERPING1base_D0077:g.17992T>G protEffect V473G SERPING1base_D0077:g.17992T>G mutType missense SERPING1base_D0077:g.17991G>A protEffect V473M SERPING1base_D0077:g.17991G>A mutType missense SERPING1base_D0077:g.17994C>G protEffect Q474E SERPING1base_D0077:g.17994C>G mutType missense SERPING1base_D0077:g.18016T>G protEffect L481R SERPING1base_D0077:g.18016T>G mutType missense SERPING1base_D0077:g.18004T>C protEffect F477S SERPING1base_D0077:g.18004T>C mutType missense SERPING1base_D0077:g.18009T>C protEffect F479L SERPING1base_D0077:g.18009T>C mutType missense SERPING1base_D0077:g.18016T>C protEffect L481P SERPING1base_D0077:g.18016T>C mutType missense SERPING1base_D0077:g.18020G>A protEffect W482X SERPING1base_D0077:g.18020G>A mutType nonsense SERPING1base_D0077:g.18019G>A protEffect W482X SERPING1base_D0077:g.18019G>A mutType nonsense SERPING1base_D0077:g.18024C>T protEffect Q484X SERPING1base_D0077:g.18024C>T mutType nonsense SERPING1base_D0077:g.18040C>G protEffect P489R SERPING1base_D0077:g.18040C>G mutType missense SERPING1base_D0077:g.18043T>A protEffect V490D SERPING1base_D0077:g.18043T>A mutType missense SERPING1base_D0077:g.18049T>A protEffect M492K SERPING1base_D0077:g.18049T>A mutType missense SERPING1base_D0077:g.18052G>A protEffect G493E SERPING1base_D0077:g.18052G>A mutType missense SERPING1base_D0077:g.18051G>A protEffect G493R SERPING1base_D0077:g.18051G>A mutType missense SERPING1base_D0077:g.18054C>T protEffect R494X SERPING1base_D0077:g.18054C>T mutType nonsense SERPING1base_D0077:g.18067C>G protEffect P498R SERPING1base_D0077:g.18067C>G mutType missense SERPING1base_D0077:g.18066C>T protEffect P498S SERPING1base_D0077:g.18066C>T mutType missense SERPING1base_D0077:g.18075T>A protEffect X501X586 SERPING1base_D0077:g.18075T>A mutType terminator SERPING1base_D0077:g.5531delA protEffect 184_229delinsD SERPING1base_D0077:g.5531delA mutType inframe SERPING1base_D0077:g.9504C>G protEffect 229_297delinsA SERPING1base_D0077:g.9504C>G mutType inframe SERPING1base_D0077:g.9712T>C protEffect 229_297delinsA SERPING1base_D0077:g.9712T>C mutType inframe SERPING1base_D0077:g.9703C>G protEffect 229_297delinsA SERPING1base_D0077:g.9703C>G mutType inframe SERPING1base_D0077:g.1080C>T mutType upstream SERPING1base_D0077:g.15434delT protEffect V344X357 SERPING1base_D0077:g.15434delT mutType deletion SERPING1base_D0077:g.4375_7263del protEffect 184_229delinsD SERPING1base_D0077:g.4375_7263del mutType inframe SH2D1Abase_D0078:g.39340A>G protEffect Y7C SH2D1Abase_D0078:g.39340A>G mutType missense SH2D1Abase_D0078:g.39342C>G protEffect H8D SH2D1Abase_D0078:g.39342C>G mutType missense SH2D1Abase_D0078:g.39343A>C protEffect H8P SH2D1Abase_D0078:g.39343A>C mutType missense SH2D1Abase_D0078:g.39367G>A protEffect G16D SH2D1Abase_D0078:g.39367G>A mutType missense SH2D1Abase_D0078:g.39399G>A protEffect G27S SH2D1Abase_D0078:g.39399G>A mutType missense SH2D1Abase_D0078:g.39404C>G protEffect S28R SH2D1Abase_D0078:g.39404C>G mutType missense SH2D1Abase_D0078:g.39412T>C protEffect L31P SH2D1Abase_D0078:g.39412T>C mutType missense SH2D1Abase_D0078:g.39415G>C protEffect R32T SH2D1Abase_D0078:g.39415G>C mutType missense SH2D1Abase_D0078:g.39417G>T protEffect D33Y SH2D1Abase_D0078:g.39417G>T mutType missense SH2D1Abase_D0078:g.39420A>G protEffect S34G SH2D1Abase_D0078:g.39420A>G mutType missense SH2D1Abase_D0078:g.39422C>A protEffect S34R SH2D1Abase_D0078:g.39422C>A mutType missense SH2D1Abase_D0078:g.39446C>G protEffect C42W SH2D1Abase_D0078:g.39446C>G mutType missense SH2D1Abase_D0078:g.58439_58502del protEffect L46X59 SH2D1Abase_D0078:g.58439_58502del mutType frameshift SH2D1Abase_D0078:g.58441_58487del protEffect Y47X51 SH2D1Abase_D0078:g.58441_58487del mutType frameshift SH2D1Abase_D0078:g.58447G>T protEffect G49V SH2D1Abase_D0078:g.58447G>T mutType missense SH2D1Abase_D0078:g.58447dupG protEffect G49X67 SH2D1Abase_D0078:g.58447dupG mutType frameshift SH2D1Abase_D0078:g.58459C>G protEffect T53R SH2D1Abase_D0078:g.58459C>G mutType missense SH2D1Abase_D0078:g.58462A>G protEffect Y54C SH2D1Abase_D0078:g.58462A>G mutType missense SH2D1Abase_D0078:g.58465G>T protEffect R55L SH2D1Abase_D0078:g.58465G>T mutType missense SH2D1Abase_D0078:g.58464C>T protEffect R55X SH2D1Abase_D0078:g.58464C>T mutType nonsense SH2D1Abase_D0078:g.58473C>T protEffect Q58X SH2D1Abase_D0078:g.58473C>T mutType nonsense SH2D1Abase_D0078:g.58492G>A protEffect W64X SH2D1Abase_D0078:g.58492G>A mutType nonsense SH2D1Abase_D0078:g.58502G>T protEffect E67D SH2D1Abase_D0078:g.58502G>T mutType missense SH2D1Abase_D0078:g.58502G>A protEffect E67E SH2D1Abase_D0078:g.58502G>A mutType missense SH2D1Abase_D0078:g.62855C>T protEffect T68I SH2D1Abase_D0078:g.62855C>T mutType missense SH2D1Abase_D0078:g.62880T>A protEffect Y76X SH2D1Abase_D0078:g.62880T>A mutType nonsense SH2D1Abase_D0078:g.62891_62894delTAAA protEffect I80X94 SH2D1Abase_D0078:g.62891_62894delTAAA mutType frameshift SH2D1Abase_D0078:g.62897dupA protEffect N82X103 SH2D1Abase_D0078:g.62897dupA mutType frameshift SH2D1Abase_D0078:g.62901_62908delCATTTCAG protEffect L83X100 SH2D1Abase_D0078:g.62901_62908delCATTTCAG mutType frameshift SH2D1Abase_D0078:g.62903T>C protEffect I84T SH2D1Abase_D0078:g.62903T>C mutType missense SH2D1Abase_D0078:g.62912T>C protEffect F87S SH2D1Abase_D0078:g.62912T>C mutType missense SH2D1Abase_D0078:g.62913delT protEffect F87X95 SH2D1Abase_D0078:g.62913delT mutType frameshift SH2D1Abase_D0078:g.62937delA protEffect V95X117 SH2D1Abase_D0078:g.62937delA mutType frameshift SH2D1Abase_D0078:g.62948A>C protEffect Q99P SH2D1Abase_D0078:g.62948A>C mutType missense SH2D1Abase_D0078:g.62952T>A protEffect Y100X SH2D1Abase_D0078:g.62952T>A mutType nonsense SH2D1Abase_D0078:g.62954C>T protEffect P101L SH2D1Abase_D0078:g.62954C>T mutType missense SH2D1Abase_D0078:g.62957T>G protEffect V102G SH2D1Abase_D0078:g.62957T>G mutType missense SH2D1Abase_D0078:g.64067T>A protEffect X129X141 SH2D1Abase_D0078:g.64067T>A mutType terminator SH2D1Abase_D0078:g.58436C>G protEffect Y47X59 SH2D1Abase_D0078:g.58436C>G mutType loss SH2D1Abase_D0078:g.62853delG mutType frameshift SLC35C1base_D0036:g.1434C>T protEffect R147C SLC35C1base_D0036:g.1434C>T mutType missense SLC35C1base_D0036:g.6022delG protEffect W196X230 SLC35C1base_D0036:g.6022delG mutType frameshift SLC35C1base_D0036:g.6357C>G protEffect T308R SLC35C1base_D0036:g.6357C>G mutType missense SLC35C1base_D0036:g.6403G>A protEffect W323X SLC35C1base_D0036:g.6403G>A mutType nonsense SLC35C1base_D0036:g.6444A>G protEffect Y337C SLC35C1base_D0036:g.6444A>G mutType missense SMARCAL1base_D0079:g.1003G>A protEffect M1I SMARCAL1base_D0079:g.1003G>A mutType missense SMARCAL1base_D0079:g.24753G>A protEffect R561H SMARCAL1base_D0079:g.24753G>A mutType missense SMARCAL1base_D0079:g.1049C>T protEffect R17X SMARCAL1base_D0079:g.1049C>T mutType nonsense SMARCAL1base_D0079:g.1100C>T protEffect Q34X SMARCAL1base_D0079:g.1100C>T mutType nonsense SMARCAL1base_D0079:g.1338_1339insAGTCCAC protEffect P113X117 SMARCAL1base_D0079:g.1338_1339insAGTCCAC mutType frameshift SMARCAL1base_D0079:g.2577T>C protEffect F279S SMARCAL1base_D0079:g.2577T>C mutType missense SMARCAL1base_D0079:g.64512G>T protEffect E848X SMARCAL1base_D0079:g.64512G>T mutType nonsense SMARCAL1base_D0079:g.9968A>C protEffect H379P SMARCAL1base_D0079:g.9968A>C mutType missense SMARCAL1base_D0079:g.6687C>T protEffect Q319X SMARCAL1base_D0079:g.6687C>T mutType nonsense SMARCAL1base_D0079:g.6732C>T protEffect R334X SMARCAL1base_D0079:g.6732C>T mutType nonsense SMARCAL1base_D0079:g.9961G>C protEffect E377Q SMARCAL1base_D0079:g.9961G>C mutType missense SMARCAL1base_D0079:g.19106G>A protEffect R476Q SMARCAL1base_D0079:g.19106G>A mutType missense SMARCAL1base_D0079:g.9964G>T protEffect E378X SMARCAL1base_D0079:g.9964G>T mutType nonsense SMARCAL1base_D0079:g.14992dupC protEffect 417_417delins11 SMARCAL1base_D0079:g.14992dupC mutType frameshift SMARCAL1base_D0079:g.50926T>G protEffect F702V SMARCAL1base_D0079:g.50926T>G mutType missense SMARCAL1base_D0079:g.19081G>C protEffect A468P SMARCAL1base_D0079:g.19081G>C mutType missense SMARCAL1base_D0079:g.50936C>T protEffect T705I SMARCAL1base_D0079:g.50936C>T mutType missense SMARCAL1base_D0079:g.19118C>T protEffect P480L SMARCAL1base_D0079:g.19118C>T mutType missense SMARCAL1base_D0079:g.21791T>A protEffect I548N SMARCAL1base_D0079:g.21791T>A mutType missense SMARCAL1base_D0079:g.37223C>T protEffect R645C SMARCAL1base_D0079:g.37223C>T mutType missense SMARCAL1base_D0079:g.24752C>T protEffect R561C SMARCAL1base_D0079:g.24752C>T mutType missense SMARCAL1base_D0079:g.61641C>A protEffect S774X SMARCAL1base_D0079:g.61641C>A mutType nonsense SMARCAL1base_D0079:g.33339C>T protEffect S579L SMARCAL1base_D0079:g.33339C>T mutType missense SMARCAL1base_D0079:g.33359C>T protEffect R586W SMARCAL1base_D0079:g.33359C>T mutType missense SMARCAL1base_D0079:g.63436G>A protEffect R820H SMARCAL1base_D0079:g.63436G>A mutType missense SMARCAL1base_D0079:g.37164C>G protEffect S625X SMARCAL1base_D0079:g.37164C>G mutType nonsense SMARCAL1base_D0079:g.37224G>A protEffect R645H SMARCAL1base_D0079:g.37224G>A mutType missense SMARCAL1base_D0079:g.37229A>C protEffect K647Q SMARCAL1base_D0079:g.37229A>C mutType missense SMARCAL1base_D0079:g.37230A>C protEffect K647T SMARCAL1base_D0079:g.37230A>C mutType missense SMARCAL1base_D0079:g.61584T>G protEffect I755S SMARCAL1base_D0079:g.61584T>G mutType missense SMARCAL1base_D0079:g.61583_61602del protEffect I755X756 SMARCAL1base_D0079:g.61583_61602del mutType frameshift SMARCAL1base_D0079:g.61611G>A protEffect R764Q SMARCAL1base_D0079:g.61611G>A mutType missense SMARCAL1base_D0079:g.63439T>G protEffect I821S SMARCAL1base_D0079:g.63439T>G mutType missense SP110base_D0116:g.4051delC protEffect Q14X38 SP110base_D0116:g.4051delC mutType frameshift SP110base_D0116:g.8567delC protEffect P214X228 SP110base_D0116:g.8567delC mutType frameshift SPINK5base_D0080:g.7333C>T protEffect Q46X SPINK5base_D0080:g.7333C>T mutType nonsense SPINK5base_D0080:g.9132dupG protEffect A80X98 SPINK5base_D0080:g.9132dupG mutType frameshift SPINK5base_D0080:g.7350delT protEffect F51X57 SPINK5base_D0080:g.7350delT mutType frameshift SPINK5base_D0080:g.28167C>T protEffect R217X SPINK5base_D0080:g.28167C>T mutType nonsense SPINK5base_D0080:g.23385G>T protEffect G103X SPINK5base_D0080:g.23385G>T mutType nonsense SPINK5base_D0080:g.23432_23435delTTGT protEffect V118X144 SPINK5base_D0080:g.23432_23435delTTGT mutType frameshift SPINK5base_D0080:g.23453_23454delAT protEffect T125X126 SPINK5base_D0080:g.23453_23454delAT mutType frameshift SPINK5base_D0080:g.34905_34906insC protEffect 322_322delins21 SPINK5base_D0080:g.34905_34906insC mutType frameshift SPINK5base_D0080:g.23455_23456delAT protEffect Y126X SPINK5base_D0080:g.23455_23456delAT mutType nonsense SPINK5base_D0080:g.57019C>T protEffect R790X SPINK5base_D0080:g.57019C>T mutType nonsense SPINK5base_D0080:g.45722G>T protEffect E541X SPINK5base_D0080:g.45722G>T mutType nonsense SPINK5base_D0080:g.31358dupT protEffect C239X244 SPINK5base_D0080:g.31358dupT mutType frameshift SPINK5base_D0080:g.57282_57283delGA protEffect E825X826 SPINK5base_D0080:g.57282_57283delGA mutType frameshift SPINK5base_D0080:g.23469_23470insCGTG protEffect A131X136 SPINK5base_D0080:g.23469_23470insCGTG mutType frameshift SPINK5base_D0080:g.23470_23471dupGTGC protEffect A131X136 SPINK5base_D0080:g.23470_23471dupGTGC mutType frameshift SPINK5base_D0080:g.23477_23478delTG protEffect C133X134 SPINK5base_D0080:g.23477_23478delTG mutType frameshift SPINK5base_D0080:g.26556_26557delGT protEffect C194X198 SPINK5base_D0080:g.26556_26557delGT mutType frameshift SPINK5base_D0080:g.28146C>T protEffect R210X SPINK5base_D0080:g.28146C>T mutType nonsense SPINK5base_D0080:g.31334delC protEffect Q231X232 SPINK5base_D0080:g.31334delC mutType frameshift SPINK5base_D0080:g.28170C>T protEffect R218X SPINK5base_D0080:g.28170C>T mutType nonsense SPINK5base_D0080:g.31363_31364insT protEffect R241X244 SPINK5base_D0080:g.31363_31364insT mutType frameshift SPINK5base_D0080:g.36215_36216dupGAAAA protEffect 346_346delins31 SPINK5base_D0080:g.36215_36216dupGAAAA mutType frameshift SPINK5base_D0080:g.37428C>T protEffect R371X SPINK5base_D0080:g.37428C>T mutType nonsense SPINK5base_D0080:g.36227C>T protEffect R350X SPINK5base_D0080:g.36227C>T mutType nonsense SPINK5base_D0080:g.36265_36266delAT protEffect S362X368 SPINK5base_D0080:g.36265_36266delAT mutType frameshift SPINK5base_D0080:g.53351_53352delAG protEffect R681X708 SPINK5base_D0080:g.53351_53352delAG mutType frameshift SPINK5base_D0080:g.38785dupT protEffect C451X456 SPINK5base_D0080:g.38785dupT mutType frameshift SPINK5base_D0080:g.53408G>T protEffect G700X SPINK5base_D0080:g.53408G>T mutType nonsense SPINK5base_D0080:g.55417C>T protEffect Q713X SPINK5base_D0080:g.55417C>T mutType nonsense SPINK5base_D0080:g.55961A>T protEffect K754X SPINK5base_D0080:g.55961A>T mutType nonsense SPINK5base_D0080:g.55964dupA protEffect N755X756 SPINK5base_D0080:g.55964dupA mutType frameshift SPINK5base_D0080:g.57074C>T protEffect T808I SPINK5base_D0080:g.57074C>T mutType missense SPINK5base_D0080:g.57277delA protEffect 823_823delins101 SPINK5base_D0080:g.57277delA mutType frameshift SPINK5base_D0080:g.37467_37468delGA protEffect E384X403 SPINK5base_D0080:g.37467_37468delGA mutType frameshift SPINK5base_D0080:g.55959dupG protEffect R753X756 SPINK5base_D0080:g.55959dupG mutType frameshift SPINK5base_D0080:g.55965dupA protEffect N755X756 SPINK5base_D0080:g.55965dupA mutType frameshift SPINK5base_D0080:g.57277dupA protEffect K823X827 SPINK5base_D0080:g.57277dupA mutType frameshift SPINK5base_D0080:g.60829delA protEffect K860X923 SPINK5base_D0080:g.60829delA mutType frameshift SPINK5base_D0080:g.56014G>A protEffect 747_771delins11 SPINK5base_D0080:g.56014G>A mutType deletion STAT1base_D0081:g.23382G>C protEffect E320Q STAT1base_D0081:g.23382G>C mutType missense STAT1base_D0081:g.30990G>T protEffect Q463H STAT1base_D0081:g.30990G>T mutType missense STAT1base_D0081:g.35720_35721delAG protEffect E587X604 STAT1base_D0081:g.35720_35721delAG mutType frameshift STAT1base_D0081:g.35759T>C protEffect L600P STAT1base_D0081:g.35759T>C mutType missense STAT1base_D0081:g.38828C>T protEffect P696S STAT1base_D0081:g.38828C>T mutType missense STAT1base_D0081:g.38859T>C protEffect L706S STAT1base_D0081:g.38859T>C mutType missense STAT3base_D0128:g.53280C>T protEffect H332Y STAT3base_D0128:g.53280C>T mutType missense STAT3base_D0128:g.53311G>A protEffect G342D STAT3base_D0128:g.53311G>A mutType missense STAT3base_D0128:g.57365C>G protEffect R382G STAT3base_D0128:g.57365C>G mutType missense STAT3base_D0128:g.57366G>T protEffect R382L STAT3base_D0128:g.57366G>T mutType missense STAT3base_D0128:g.57366G>A protEffect R382Q STAT3base_D0128:g.57366G>A mutType missense STAT3base_D0128:g.57365C>T protEffect R382W STAT3base_D0128:g.57365C>T mutType missense STAT3base_D0128:g.57371T>C protEffect F384L STAT3base_D0128:g.57371T>C mutType missense STAT3base_D0128:g.57372T>C protEffect F384S STAT3base_D0128:g.57372T>C mutType missense STAT3base_D0128:g.57387C>T protEffect T389I STAT3base_D0128:g.57387C>T mutType missense STAT3base_D0128:g.57551A>T protEffect T412S STAT3base_D0128:g.57551A>T mutType missense STAT3base_D0128:g.57585G>A protEffect R423Q STAT3base_D0128:g.57585G>A mutType missense STAT3base_D0128:g.60821G>A protEffect V432M STAT3base_D0128:g.60821G>A mutType missense STAT3base_D0128:g.60837A>C protEffect H437P STAT3base_D0128:g.60837A>C mutType missense STAT3base_D0128:g.60836C>T protEffect H437Y STAT3base_D0128:g.60836C>T mutType missense STAT3base_D0128:g.61968_61970delGTG protEffect V463del STAT3base_D0128:g.61968_61970delGTG mutType inframe STAT3base_D0128:g.61974T>G protEffect S465A STAT3base_D0128:g.61974T>G mutType missense STAT3base_D0128:g.62288A>G protEffect K531E STAT3base_D0128:g.62288A>G mutType missense STAT3base_D0128:g.63948G>A protEffect S611N STAT3base_D0128:g.63948G>A mutType missense STAT3base_D0128:g.63979C>G protEffect F621L STAT3base_D0128:g.63979C>G mutType missense STAT3base_D0128:g.63977T>G protEffect F621V STAT3base_D0128:g.63977T>G mutType missense STAT3base_D0128:g.63981C>T protEffect T622I STAT3base_D0128:g.63981C>T mutType missense STAT3base_D0128:g.64534G>T protEffect V637L STAT3base_D0128:g.64534G>T mutType missense STAT3base_D0128:g.64534G>A protEffect V637M STAT3base_D0128:g.64534G>A mutType missense STAT3base_D0128:g.64538A>G protEffect E638G STAT3base_D0128:g.64538A>G mutType missense STAT3base_D0128:g.64540C>G protEffect P639A STAT3base_D0128:g.64540C>G mutType missense STAT3base_D0128:g.64556A>C protEffect Q644P STAT3base_D0128:g.64556A>C mutType missense STAT3base_D0128:g.64555_64557delCAG protEffect Q644del STAT3base_D0128:g.64555_64557delCAG mutType inframe STAT3base_D0128:g.64564A>G protEffect N647D STAT3base_D0128:g.64564A>G mutType missense STAT3base_D0128:g.64579G>A protEffect E652K STAT3base_D0128:g.64579G>A mutType missense STAT3base_D0128:g.64595A>G protEffect Y657C STAT3base_D0128:g.64595A>G mutType missense STAT3base_D0128:g.64694_64723del protEffect 690_700delinsG STAT3base_D0128:g.64694_64723del mutType inframe STAT5Bbase_D0082:g.53986C>T protEffect R152X STAT5Bbase_D0082:g.53986C>T mutType nonsense STAT5Bbase_D0082:g.59246dupC protEffect Q368X376 STAT5Bbase_D0082:g.59246dupC mutType frameshift STAT5Bbase_D0082:g.60021dupG protEffect N398X413 STAT5Bbase_D0082:g.60021dupG mutType frameshift STAT5Bbase_D0082:g.67275G>C protEffect A630P STAT5Bbase_D0082:g.67275G>C mutType missense STX11base_D0083:g.37206delC protEffect T37X62 STX11base_D0083:g.37206delC mutType frameshift STX11base_D0083:g.37465_37472delinsTGG protEffect 123_126delins61 STX11base_D0083:g.37465_37472delinsTGG mutType frameshift STX11base_D0083:g.37677_37680delTGGC protEffect L194X196 STX11base_D0083:g.37677_37680delTGGC mutType frameshift STX11base_D0083:g.37898C>T protEffect Q268X STX11base_D0083:g.37898C>T mutType nonsense TAP1base_D0084:g.26198delC protEffect D213X228 TAP1base_D0084:g.26198delC mutType frameshift TAP1base_D0084:g.28224C>T protEffect R378X TAP1base_D0084:g.28224C>T mutType nonsense TAP1base_D0084:g.30006C>T protEffect Q522X TAP1base_D0084:g.30006C>T mutType nonsense TAP2base_D0085:g.42907C>T protEffect R210X TAP2base_D0085:g.42907C>T mutType nonsense TAP2base_D0085:g.42937C>T protEffect R220X TAP2base_D0085:g.42937C>T mutType nonsense TAP2base_D0085:g.45870delA protEffect R327X379 TAP2base_D0085:g.45870delA mutType frameshift TAZbase_D0087:g.1312_1313insG protEffect H4X133 TAZbase_D0087:g.1312_1313insG mutType frameshift TAZbase_D0087:g.1560delC protEffect H41X42 TAZbase_D0087:g.1560delC mutType frameshift TAZbase_D0087:g.1564A>C protEffect T43P TAZbase_D0087:g.1564A>C mutType missense TAZbase_D0087:g.1577_1589del protEffect R47X78 TAZbase_D0087:g.1577_1589del mutType frameshift TAZbase_D0087:g.1590C>G protEffect Y51X TAZbase_D0087:g.1590C>G mutType nonsense TAZbase_D0087:g.1594dupC protEffect 53_53delins81 TAZbase_D0087:g.1594dupC mutType frameshift TAZbase_D0087:g.1607G>T protEffect R57L TAZbase_D0087:g.1607G>T mutType missense TAZbase_D0087:g.1608delA protEffect R57X82 TAZbase_D0087:g.1608delA mutType frameshift TAZbase_D0087:g.1644C>G protEffect H69Q TAZbase_D0087:g.1644C>G mutType missense TAZbase_D0087:g.2668G>A protEffect G80E TAZbase_D0087:g.2668G>A mutType missense TAZbase_D0087:g.2709C>T protEffect R94C TAZbase_D0087:g.2709C>T mutType missense TAZbase_D0087:g.2709C>A protEffect R94S TAZbase_D0087:g.2709C>A mutType missense TAZbase_D0087:g.3010T>C protEffect C118R TAZbase_D0087:g.3010T>C mutType missense TAZbase_D0087:g.3025C>T protEffect R123X TAZbase_D0087:g.3025C>T mutType nonsense TAZbase_D0087:g.9077T>A protEffect F178I TAZbase_D0087:g.9077T>A mutType missense TAZbase_D0087:g.9080delC protEffect P179X183 TAZbase_D0087:g.9080delC mutType frameshift TAZbase_D0087:g.9174T>G protEffect V183G TAZbase_D0087:g.9174T>G mutType missense TAZbase_D0087:g.9188G>T protEffect E188X TAZbase_D0087:g.9188G>T mutType nonsense TAZbase_D0087:g.9206dupT protEffect W194X202 TAZbase_D0087:g.9206dupT mutType frameshift TAZbase_D0087:g.9501G>A protEffect G197E TAZbase_D0087:g.9501G>A mutType missense TAZbase_D0087:g.9500G>A protEffect G197R TAZbase_D0087:g.9500G>A mutType missense TAZbase_D0087:g.9501G>T protEffect G197V TAZbase_D0087:g.9501G>T mutType missense TAZbase_D0087:g.9516_9519delAGTG protEffect E202X216 TAZbase_D0087:g.9516_9519delAGTG mutType frameshift TAZbase_D0087:g.9537T>A protEffect I209N TAZbase_D0087:g.9537T>A mutType missense TAZbase_D0087:g.9540T>G protEffect L210R TAZbase_D0087:g.9540T>G mutType missense TAZbase_D0087:g.9542delC protEffect P211X217 TAZbase_D0087:g.9542delC mutType frameshift TAZbase_D0087:g.9546T>C protEffect L212P TAZbase_D0087:g.9546T>C mutType missense TAZbase_D0087:g.9557G>A protEffect G216R TAZbase_D0087:g.9557G>A mutType missense TAZbase_D0087:g.9712delC protEffect 228_228delins11 TAZbase_D0087:g.9712delC mutType frameshift TAZbase_D0087:g.9725C>T protEffect Q233X TAZbase_D0087:g.9725C>T mutType nonsense TAZbase_D0087:g.10121A>C protEffect K234Q TAZbase_D0087:g.10121A>C mutType missense TAZbase_D0087:g.10124dupA protEffect I235X310 TAZbase_D0087:g.10124dupA mutType frameshift TAZbase_D0087:g.10139G>A protEffect G240R TAZbase_D0087:g.10139G>A mutType missense TAZbase_D0087:g.10460_10461dupCCTGG protEffect G291X340 TAZbase_D0087:g.10460_10461dupCCTGG mutType frameshift TAZbase_D0087:g.2823G>A protEffect W95X96 TAZbase_D0087:g.2823G>A mutType insertion TAZbase_D0087:g.9674G>C mutType deletion TCIRG1base_AF033033.2:g.2418A>T protEffect V26_D39del TCIRG1base_AF033033.2:g.2418A>T mutType inframe TCIRG1base_AF033033.2:g.4391C>A protEffect N168X175 TCIRG1base_AF033033.2:g.4391C>A mutType frameshift TCIRG1base_AF033033.2:g.4637G>A protEffect G211_W224del TCIRG1base_AF033033.2:g.4637G>A mutType inframe TCIRG1base_AF033033.2:g.4654C>T protEffect Q230X TCIRG1base_AF033033.2:g.4654C>T mutType nonsense TCIRG1base_AF033033.2:g.11647_11650delGGAG protEffect M791X819 TCIRG1base_AF033033.2:g.11647_11650delGGAG mutType frameshift TCIRG1base_AF033033.2:g.6078C>T protEffect Q372X TCIRG1base_AF033033.2:g.6078C>T mutType nonsense TCIRG1base_AF033033.2:g.8759C>A protEffect C248X TCIRG1base_AF033033.2:g.8759C>A mutType nonsense TCIRG1base_AF033033.2:g.5272delC protEffect Q308X311 TCIRG1base_AF033033.2:g.5272delC mutType frameshift TCIRG1base_AF033033.2:g.5320_5321insG protEffect C324X489 TCIRG1base_AF033033.2:g.5320_5321insG mutType frameshift TCIRG1base_AF033033.2:g.5988G>T protEffect E342X TCIRG1base_AF033033.2:g.5988G>T mutType nonsense TCIRG1base_AF033033.2:g.8463_8464insA protEffect Y391X489 TCIRG1base_AF033033.2:g.8463_8464insA mutType frameshift TCIRG1base_AF033033.2:g.8590C>T protEffect Q433X TCIRG1base_AF033033.2:g.8590C>T mutType nonsense TCIRG1base_AF033033.2:g.8749_8751delACA protEffect 461_462delinsY TCIRG1base_AF033033.2:g.8749_8751delACA mutType inframe TCIRG1base_AF033033.2:g.8805_8806delGC protEffect A480X488 TCIRG1base_AF033033.2:g.8805_8806delGC mutType frameshift TCIRG1base_AF033033.2:g.11602_11610delCTTTGCCGC protEffect 776_779delinsI TCIRG1base_AF033033.2:g.11602_11610delCTTTGCCGC mutType inframe TCIRG1base_AF033033.2:g.10220G>A protEffect W596X TCIRG1base_AF033033.2:g.10220G>A mutType nonsense TCIRG1base_AF033033.2:g.10809C>T protEffect R670X TCIRG1base_AF033033.2:g.10809C>T mutType nonsense TCIRG1base_AF033033.2:g.11086_11160del protEffect 705_730delinsD TCIRG1base_AF033033.2:g.11086_11160del mutType inframe TCIRG1base_AF033033.2:g.11598C>G protEffect P775R TCIRG1base_AF033033.2:g.11598C>G mutType missense TCIRG1base_AF033033.2:g.11765G>A protEffect W805X TCIRG1base_AF033033.2:g.11765G>A mutType nonsense TCN2base_D0088:g.60260delC protEffect L58X85 TCN2base_D0088:g.60260delC mutType frameshift TCN2base_D0088:g.62284delA protEffect S129X206 TCN2base_D0088:g.62284delA mutType frameshift TCN2base_D0088:g.72253T>G protEffect Y370X TCN2base_D0088:g.72253T>G mutType nonsense TCN2base_D0088:g.63700_63701delTC protEffect L166X172 TCN2base_D0088:g.63700_63701delTC mutType frameshift TCN2base_D0088:g.72282dupA protEffect Y380X TCN2base_D0088:g.72282dupA mutType nonsense TCN2base_D0088:g.63704_63706delCCA protEffect 167_168delinsQ TCN2base_D0088:g.63704_63706delCCA mutType inframe TCN2base_D0088:g.72258_72259delCA protEffect T372X410 TCN2base_D0088:g.72258_72259delCA mutType frameshift TCN2base_D0088:g.65056_65059delTCTG protEffect C309X358 TCN2base_D0088:g.65056_65059delTCTG mutType frameshift TCN2base_D0088:g.72338C>T protEffect R399X TCN2base_D0088:g.72338C>T mutType nonsense TCN2base_D0088:g.75755_75756delCA protEffect 412_413delinsX TCN2base_D0088:g.75755_75756delCA mutType nonsense TCN2base_D0088:g.62326T>G protEffect E117_G143del TCN2base_D0088:g.62326T>G mutType inframe TLR3base_D0124:g.14440T>C protEffect F303S TLR3base_D0124:g.14440T>C mutType missense TLR3base_D0124:g.15192C>T protEffect P554S TLR3base_D0124:g.15192C>T mutType missense TMC6base_D0030:g.7080C>T protEffect Q74X TMC6base_D0030:g.7080C>T mutType nonsense TMC6base_D0030:g.7532C>T protEffect R94X TMC6base_D0030:g.7532C>T mutType nonsense TMC6base_D0030:g.8737C>A protEffect Y248X TMC6base_D0030:g.8737C>A mutType nonsense TMC6base_D0030:g.9253_9254dupCATGT protEffect Y306X317 TMC6base_D0030:g.9253_9254dupCATGT mutType frameshift TMC6base_D0030:g.9305delT protEffect L323X349 TMC6base_D0030:g.9305delT mutType frameshift TMC6base_D0030:g.14026G>T protEffect E576X TMC6base_D0030:g.14026G>T mutType nonsense TMC8base_D0031:g.2133G>A protEffect W63X TMC8base_D0031:g.2133G>A mutType nonsense TMC8base_D0031:g.3648_3669del protEffect G187X218 TMC8base_D0031:g.3648_3669del mutType frameshift TMC8base_D0031:g.3648_3670del protEffect G187X258 TMC8base_D0031:g.3648_3670del mutType frameshift TMC8base_D0031:g.3655C>T protEffect R190X TMC8base_D0031:g.3655C>T mutType nonsense TMC8base_D0031:g.4152delT protEffect F252X283 TMC8base_D0031:g.4152delT mutType frameshift TMC8base_D0031:g.5179G>T protEffect E362X TMC8base_D0031:g.5179G>T mutType nonsense TNFRSF13Bbase_D0105:g.20568C>A protEffect P42T TNFRSF13Bbase_D0105:g.20568C>A mutType missense TNFRSF13Bbase_D0105:g.24109_24110insA protEffect S68X80 TNFRSF13Bbase_D0105:g.24109_24110insA mutType frameshift TNFRSF13Bbase_D0105:g.24216T>C protEffect C104R TNFRSF13Bbase_D0105:g.24216T>C mutType missense TNFRSF13Bbase_D0105:g.24110dupA protEffect L69X80 TNFRSF13Bbase_D0105:g.24110dupA mutType frameshift TNFRSF13Bbase_D0105:g.32674C>A protEffect A181E TNFRSF13Bbase_D0105:g.32674C>A mutType missense TNFRSF13Bbase_D0105:g.24337C>A protEffect S144X TNFRSF13Bbase_D0105:g.24337C>A mutType nonsense TNFRSF13Bbase_D0105:g.32647G>A protEffect C172Y TNFRSF13Bbase_D0105:g.32647G>A mutType missense TNFRSF13Bbase_D0105:g.32713_32714delinsAA protEffect S194X TNFRSF13Bbase_D0105:g.32713_32714delinsAA mutType nonsense TNFRSF13Bbase_D0105:g.32737G>A protEffect R202H TNFRSF13Bbase_D0105:g.32737G>A mutType missense TYK2base_D0118:g.11027_11030delGCTT protEffect 70_71delins21 TYK2base_D0118:g.11027_11030delGCTT mutType frameshift UNC13Dbase_D0091:g.2473G>A protEffect A59T UNC13Dbase_D0091:g.2473G>A mutType missense UNC13Dbase_D0091:g.5211G>T protEffect Q251H UNC13Dbase_D0091:g.5211G>T mutType missense UNC13Dbase_D0091:g.3157delA protEffect P147X161 UNC13Dbase_D0091:g.3157delA mutType frameshift UNC13Dbase_D0091:g.8805G>T protEffect W354L UNC13Dbase_D0091:g.8805G>T mutType missense UNC13Dbase_D0091:g.2475_2476delAC protEffect A59X70 UNC13Dbase_D0091:g.2475_2476delAC mutType frameshift UNC13Dbase_D0091:g.11622_11625delGGAG protEffect R782X793 UNC13Dbase_D0091:g.11622_11625delGGAG mutType frameshift UNC13Dbase_D0091:g.2512delC protEffect P72X75 UNC13Dbase_D0091:g.2512delC mutType frameshift UNC13Dbase_D0091:g.2545C>T protEffect R83X UNC13Dbase_D0091:g.2545C>T mutType nonsense UNC13Dbase_D0091:g.2675C>T protEffect Q98X UNC13Dbase_D0091:g.2675C>T mutType nonsense UNC13Dbase_D0091:g.3248delC protEffect 178_178delins71 UNC13Dbase_D0091:g.3248delC mutType frameshift UNC13Dbase_D0091:g.4900delT protEffect T209X248 UNC13Dbase_D0091:g.4900delT mutType frameshift UNC13Dbase_D0091:g.4913C>T protEffect R214X UNC13Dbase_D0091:g.4913C>T mutType nonsense UNC13Dbase_D0091:g.9864G>C protEffect N515X530 UNC13Dbase_D0091:g.9864G>C mutType frameshift UNC13Dbase_D0091:g.14565T>G protEffect F857C UNC13Dbase_D0091:g.14565T>G mutType missense UNC13Dbase_D0091:g.10308A>G protEffect E616G UNC13Dbase_D0091:g.10308A>G mutType missense UNC13Dbase_D0091:g.5104C>T protEffect R256X UNC13Dbase_D0091:g.5104C>T mutType nonsense UNC13Dbase_D0091:g.5401C>T protEffect R256X UNC13Dbase_D0091:g.5401C>T mutType nonsense UNC13Dbase_D0091:g.5452C>T protEffect R273X UNC13Dbase_D0091:g.5452C>T mutType nonsense UNC13Dbase_D0091:g.15103T>C protEffect L891P UNC13Dbase_D0091:g.15103T>C mutType missense UNC13Dbase_D0091:g.8889G>A protEffect W382X UNC13Dbase_D0091:g.8889G>A mutType nonsense UNC13Dbase_D0091:g.9056T>C protEffect L403P UNC13Dbase_D0091:g.9056T>C mutType missense UNC13Dbase_D0091:g.9089G>T protEffect R414L UNC13Dbase_D0091:g.9089G>T mutType missense UNC13Dbase_D0091:g.15308C>T protEffect R928C UNC13Dbase_D0091:g.15308C>T mutType missense UNC13Dbase_D0091:g.9846C>T protEffect R527W UNC13Dbase_D0091:g.9846C>T mutType missense UNC13Dbase_D0091:g.10037delG protEffect E565X571 UNC13Dbase_D0091:g.10037delG mutType frameshift UNC13Dbase_D0091:g.10066dupA protEffect E575X584 UNC13Dbase_D0091:g.10066dupA mutType frameshift UNC13Dbase_D0091:g.10214dupT protEffect F585X616 UNC13Dbase_D0091:g.10214dupT mutType frameshift UNC13Dbase_D0091:g.10283_10294del protEffect V608_A611del UNC13Dbase_D0091:g.10283_10294del mutType inframe UNC13Dbase_D0091:g.11048G>C protEffect R680P UNC13Dbase_D0091:g.11048G>C mutType missense UNC13Dbase_D0091:g.11258G>A protEffect W721X UNC13Dbase_D0091:g.11258G>A mutType nonsense UNC13Dbase_D0091:g.11622delG protEffect R782X794 UNC13Dbase_D0091:g.11622delG mutType frameshift UNC13Dbase_D0091:g.15309G>C protEffect R928P UNC13Dbase_D0091:g.15309G>C mutType missense UNC13Dbase_D0091:g.16911T>G protEffect L1044R UNC13Dbase_D0091:g.16911T>G mutType missense UNC13Dbase_D0091:g.17673C>T protEffect R1065X UNC13Dbase_D0091:g.17673C>T mutType nonsense UNC13Dbase_D0091:g.2794G>A protEffect K108X122 UNC13Dbase_D0091:g.2794G>A mutType frameshift UNC93B1base_D0122:g.6765G>A protEffect L230X417 UNC93B1base_D0122:g.6765G>A mutType loss UNC93B1base_D0122:g.8466_8469delCTTT protEffect P345X447 UNC93B1base_D0122:g.8466_8469delCTTT mutType frameshift UNGbase_D0092:g.1952C>T protEffect R88C UNGbase_D0092:g.1952C>T mutType missense UNGbase_D0092:g.2632delC protEffect P131X143 UNGbase_D0092:g.2632delC mutType frameshift UNGbase_D0092:g.6265_6266delTA protEffect I190X226 UNGbase_D0092:g.6265_6266delTA mutType frameshift UNGbase_D0092:g.2667_2668delAT protEffect I143X159 UNGbase_D0092:g.2667_2668delAT mutType frameshift UNGbase_D0092:g.6953T>C protEffect F251S UNGbase_D0092:g.6953T>C mutType missense WASbase_AF196970.2:g.31662delG protEffect 4_4delins41 WASbase_AF196970.2:g.31662delG mutType frameshift WASbase_AF196970.2:g.31688C>T protEffect R13X WASbase_AF196970.2:g.31688C>T mutType nonsense WASbase_AF196970.2:g.31730C>T protEffect L27F WASbase_AF196970.2:g.31730C>T mutType missense WASbase_AF196970.2:g.31758_31759delTT protEffect F36X WASbase_AF196970.2:g.31758_31759delTT mutType nonsense WASbase_AF196970.2:g.32121C>G protEffect P58R WASbase_AF196970.2:g.32121C>G mutType missense WASbase_AF196970.2:g.32147G>A protEffect E67K WASbase_AF196970.2:g.32147G>A mutType missense WASbase_AF196970.2:g.32147G>T protEffect E67X WASbase_AF196970.2:g.32147G>T mutType nonsense WASbase_AF196970.2:g.32175A>C protEffect K76T WASbase_AF196970.2:g.32175A>C mutType missense WASbase_AF196970.2:g.32177G>C protEffect D77H WASbase_AF196970.2:g.32177G>C mutType missense WASbase_AF196970.2:g.32204C>T protEffect R86C WASbase_AF196970.2:g.32204C>T mutType missense WASbase_AF196970.2:g.32204C>G protEffect R86G WASbase_AF196970.2:g.32204C>G mutType missense WASbase_AF196970.2:g.32214G>A protEffect G89D WASbase_AF196970.2:g.32214G>A mutType missense WASbase_AF196970.2:g.33401delC protEffect P110X126 WASbase_AF196970.2:g.33401delC mutType frameshift WASbase_AF196970.2:g.33401dupC protEffect 111_111delins11 WASbase_AF196970.2:g.33401dupC mutType frameshift WASbase_AF196970.2:g.33425_33426insGGAGAT protEffect 118_119insGD WASbase_AF196970.2:g.33425_33426insGGAGAT mutType inframe WASbase_AF196970.2:g.33613dupA protEffect 148_148delins21 WASbase_AF196970.2:g.33613dupA mutType frameshift WASbase_AF196970.2:g.35880delC protEffect Q255X260 WASbase_AF196970.2:g.35880delC mutType frameshift WASbase_AF196970.2:g.36510delG protEffect R328X444 WASbase_AF196970.2:g.36510delG mutType frameshift WASbase_AF196970.2:g.36527delG protEffect 334_334delins111 WASbase_AF196970.2:g.36527delG mutType frameshift WASbase_AF196970.2:g.36548dupC protEffect P341X494 WASbase_AF196970.2:g.36548dupC mutType frameshift WASbase_AF196970.2:g.36605delC protEffect P360X444 WASbase_AF196970.2:g.36605delC mutType frameshift WASbase_AF196970.2:g.36616C>T protEffect R364X WASbase_AF196970.2:g.36616C>T mutType nonsense WASbase_AF196970.2:g.36677delC protEffect 384_384delins61 WASbase_AF196970.2:g.36677delC mutType frameshift WASbase_AF196970.2:g.36677dupC protEffect 384_384delins111 WASbase_AF196970.2:g.36677dupC mutType frameshift ZAP70base_D0057:g.11708C>A protEffect P80Q ZAP70base_D0057:g.11708C>A mutType missense ZAP70base_D0057:g.25518A>T protEffect M572L ZAP70base_D0057:g.25518A>T mutType missense ZAP70base_D0057:g.22073T>G protEffect L337R ZAP70base_D0057:g.22073T>G mutType missense ZAP70base_D0057:g.25009C>T protEffect R465C ZAP70base_D0057:g.25009C>T mutType missense ZAP70base_D0057:g.25217_25229del protEffect K504X539 ZAP70base_D0057:g.25217_25229del mutType frameshift ZAP70base_D0057:g.25227C>T protEffect A507V ZAP70base_D0057:g.25227C>T mutType missense ZAP70base_D0057:g.25261C>A protEffect S518R ZAP70base_D0057:g.25261C>A mutType missense ZAP70base_D0057:g.25417G>A protEffect 541_542insLEQ ZAP70base_D0057:g.25417G>A mutType inframe ZAP70base_D0057:g.25494T>C protEffect C564R ZAP70base_D0057:g.25494T>C mutType missense AIREbase_D0003:g.4749_4750ins longName D0003:g.4749_4750insACGCCGGCTTCTGAGGCTGCACC BTKbase_U78027.1:g.63920_63921dup longName U78027.1:g.63920_63921dupGCTCAAATATCCAGTG BTKbase_U78027.1:g.68253_68257delins longName U78027.1:g.68253_68257delinsCAGTACATGCCAA BTKbase_U78027.1:g.68261_68262dup longName U78027.1:g.68261_68262dupTGGCTTCAGAGAAGGTATATACCATC CD40Lbase_D0015:g.1127_1128ins longName D0015:g.1127_1128insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGGAAAATTTTT RAG1base_HSRAG1:g.2038_2039ins longName HSRAG1:g.2038_2039insCAGCTCTCAGAATGTGAAA SERPING1base_D0077:g.17956_17957dup longName D0077:g.17956_17957dupGGGGTGGAGGCGGCTGCAGCCTCCGC SERPING1base_D0077:g.17972_17973dup longName D0077:g.17972_17973dupCCGCCATCTCTGTGGCCCGC AIREbase_D0003:g.4749_4750ins longName D0003:g.4749_4750insACGCCGGCTTCTGAGGCTGCACC BTKbase_U78027.1:g.63920_63921dup longName U78027.1:g.63920_63921dupGCTCAAATATCCAGTG BTKbase_U78027.1:g.68253_68257delins longName U78027.1:g.68253_68257delinsCAGTACATGCCAA BTKbase_U78027.1:g.68261_68262dup longName U78027.1:g.68261_68262dupTGGCTTCAGAGAAGGTATATACCATC CD40Lbase_D0015:g.1127_1128ins longName D0015:g.1127_1128insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGGAAAATTTTT RAG1base_HSRAG1:g.2038_2039ins longName HSRAG1:g.2038_2039insCAGCTCTCAGAATGTGAAA SERPING1base_D0077:g.17956_17957dup longName D0077:g.17956_17957dupGGGGTGGAGGCGGCTGCAGCCTCCGC SERPING1base_D0077:g.17972_17973dup longName D0077:g.17972_17973dupCCGCCATCTCTGTGGCCCGC AIREbase_D0003:g.4749_4750ins longName D0003:g.4749_4750insACGCCGGCTTCTGAGGCTGCACC BTKbase_U78027.1:g.63920_63921dup longName U78027.1:g.63920_63921dupGCTCAAATATCCAGTG BTKbase_U78027.1:g.68253_68257delins longName U78027.1:g.68253_68257delinsCAGTACATGCCAA BTKbase_U78027.1:g.68261_68262dup longName U78027.1:g.68261_68262dupTGGCTTCAGAGAAGGTATATACCATC CD40Lbase_D0015:g.1127_1128ins longName D0015:g.1127_1128insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGGAAAATTTTT RAG1base_HSRAG1:g.2038_2039ins longName HSRAG1:g.2038_2039insCAGCTCTCAGAATGTGAAA SERPING1base_D0077:g.17956_17957dup longName D0077:g.17956_17957dupGGGGTGGAGGCGGCTGCAGCCTCCGC SERPING1base_D0077:g.17972_17973dup longName D0077:g.17972_17973dupCCGCCATCTCTGTGGCCCGC AIREbase_D0003:g.4749_4750ins longName D0003:g.4749_4750insACGCCGGCTTCTGAGGCTGCACC BTKbase_U78027.1:g.63920_63921dup longName U78027.1:g.63920_63921dupGCTCAAATATCCAGTG BTKbase_U78027.1:g.68253_68257delins longName U78027.1:g.68253_68257delinsCAGTACATGCCAA BTKbase_U78027.1:g.68261_68262dup longName U78027.1:g.68261_68262dupTGGCTTCAGAGAAGGTATATACCATC CD40Lbase_D0015:g.1127_1128ins longName D0015:g.1127_1128insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGGAAAATTTTT IL12RB1base_D0048:g.12083_12084dup longName D0048:g.12083_12084dupCTCCGACGACGGCAGCT RAG1base_HSRAG1:g.2038_2039ins longName HSRAG1:g.2038_2039insCAGCTCTCAGAATGTGAAA SERPING1base_D0077:g.17956_17957dup longName D0077:g.17956_17957dupGGGGTGGAGGCGGCTGCAGCCTCCGC SERPING1base_D0077:g.17972_17973dup longName D0077:g.17972_17973dupCCGCCATCTCTGTGGCCCGC AIREbase_D0003:g.4749_4750ins longName D0003:g.4749_4750insACGCCGGCTTCTGAGGCTGCACC BTKbase_U78027.1:g.63920_63921dup longName U78027.1:g.63920_63921dupGCTCAAATATCCAGTG BTKbase_U78027.1:g.68253_68257delins longName U78027.1:g.68253_68257delinsCAGTACATGCCAA BTKbase_U78027.1:g.68261_68262dup longName U78027.1:g.68261_68262dupTGGCTTCAGAGAAGGTATATACCATC CD40Lbase_D0015:g.1127_1128ins longName D0015:g.1127_1128insTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGGAAAATTTTT CYBBbase_D0025:g.16991_16992ins longName D0025:g.16991_16992insACCCCCTCTTTGAATAATCCTAATCATCCCTCACAGACATC CYBBbase_D0025:g.19998_19999ins longName D0025:g.19998_19999insTGCTGGAAACCCTCCTATGGT CYBBbase_D0025:g.25971_25973delins longName D0025:g.25971_25973delinsATGTGATGAACACAT CYBBbase_D0025:g.26024_26025ins longName D0025:g.26024_26025insGGGGTCACACCCTTCGCATCCATT CYBBbase_D0025:g.31802_31803ins longName D0025:g.31802_31803insGAGTCTGGCCCTCGGGGAGTGCATTTCA IL12RB1base_D0048:g.12083_12084dup longName D0048:g.12083_12084dupCTCCGACGACGGCAGCT RAG1base_HSRAG1:g.2038_2039ins longName HSRAG1:g.2038_2039insCAGCTCTCAGAATGTGAAA SERPING1base_D0077:g.17956_17957dup longName D0077:g.17956_17957dupGGGGTGGAGGCGGCTGCAGCCTCCGC SERPING1base_D0077:g.17972_17973dup longName D0077:g.17972_17973dupCCGCCATCTCTGTGGCCCGC KinMutBase_TGFBR2_DNA:g.85628G>C protEffect R537P KinMutBase_TGFBR2_DNA:g.85628G>C mutType missense KinMutBase_TGFBR2_DNA:g.85594G>C protEffect E526Q KinMutBase_TGFBR2_DNA:g.85594G>C mutType missense KinMutBase_TGFBR2_DNA:g.68345A>G protEffect T458A KinMutBase_TGFBR2_DNA:g.68345A>G mutType missense KinMutBase_TGFBR2_DNA:g.66250C>T protEffect T315M KinMutBase_TGFBR2_DNA:g.66250C>T mutType missense KinMutBase_TGFBR2_DNA:g.66520A>G protEffect D405G KinMutBase_TGFBR2_DNA:g.66520A>G mutType missense KinMutBase_RPS6KA3_DNA:g.79710T>G protEffect S227A KinMutBase_RPS6KA3_DNA:g.79710T>G mutType missense KinMutBase_RPS6KA3_DNA:g.58326G>T protEffect G75V KinMutBase_RPS6KA3_DNA:g.58326G>T mutType missense KinMutBase_RPS6KA3_DNA:g.105964G>A protEffect W645X KinMutBase_RPS6KA3_DNA:g.105964G>A mutType nonsense KinMutBase_RPS6KA3_DNA:g.63530G>T protEffect V82F KinMutBase_RPS6KA3_DNA:g.63530G>T mutType missense KinMutBase_RPS6KA3_DNA:g.102642C>T protEffect R558X KinMutBase_RPS6KA3_DNA:g.102642C>T mutType nonsense KinMutBase_RPS6KA3_DNA:g.99982C>T protEffect R514X KinMutBase_RPS6KA3_DNA:g.99982C>T mutType nonsense KinMutBase_RPS6KA3_DNA:g.90616C>T protEffect R305X KinMutBase_RPS6KA3_DNA:g.90616C>T mutType nonsense KinMutBase_RPS6KA3_DNA:g.81309C>T protEffect R273X KinMutBase_RPS6KA3_DNA:g.81309C>T mutType nonsense KinMutBase_RPS6KA3_DNA:g.72496C>T protEffect R112X KinMutBase_RPS6KA3_DNA:g.72496C>T mutType nonsense KinMutBase_RPS6KA3_DNA:g.72490C>T protEffect R110X KinMutBase_RPS6KA3_DNA:g.72490C>T mutType nonsense KinMutBase_RPS6KA3_DNA:g.63582delT protEffect M99X102 KinMutBase_RPS6KA3_DNA:g.63582delT mutType frameshift KinMutBase_RPS6KA3_DNA:g.63548delA protEffect I88X99 KinMutBase_RPS6KA3_DNA:g.63548delA mutType frameshift KinMutBase_RPS6KA3_DNA:g.72543T>G protEffect H127Q KinMutBase_RPS6KA3_DNA:g.72543T>G mutType missense KinMutBase_RPS6KA3_DNA:g.94826G>A protEffect G431D KinMutBase_RPS6KA3_DNA:g.94826G>A mutType missense KinMutBase_RPS6KA3_DNA:g.73418G>T protEffect D154Y KinMutBase_RPS6KA3_DNA:g.73418G>T mutType missense KinMutBase_RPS6KA3_DNA:g.79705C>T protEffect A225V KinMutBase_RPS6KA3_DNA:g.79705C>T mutType missense KinMutBase_RET_DNA:g.43492A>G protEffect Y806C KinMutBase_RET_DNA:g.43492A>G mutType missense KinMutBase_RET_DNA:g.42397A>T protEffect Y791F KinMutBase_RET_DNA:g.42397A>T mutType missense KinMutBase_RET_DNA:g.44081T>G protEffect S891A KinMutBase_RET_DNA:g.44081T>G mutType missense KinMutBase_RET_DNA:g.42321C>T protEffect P766S KinMutBase_RET_DNA:g.42321C>T mutType missense KinMutBase_RET_DNA:g.42395G>T protEffect L790F KinMutBase_RET_DNA:g.42395G>T mutType missense KinMutBase_RET_DNA:g.42395G>C protEffect L790F KinMutBase_RET_DNA:g.42395G>C mutType missense KinMutBase_RET_DNA:g.45908C>T protEffect A919V KinMutBase_RET_DNA:g.45908C>T mutType missense KinMutBase_RET_DNA:g.47631G>A protEffect W942X KinMutBase_RET_DNA:g.47631G>A mutType nonsense KinMutBase_RET_DNA:g.43485G>A protEffect V804M KinMutBase_RET_DNA:g.43485G>A mutType missense KinMutBase_RET_DNA:g.43485G>T protEffect V804L KinMutBase_RET_DNA:g.43485G>T mutType missense KinMutBase_RET_DNA:g.45917C>A protEffect S922Y KinMutBase_RET_DNA:g.45917C>A mutType missense KinMutBase_RET_DNA:g.42318T>C protEffect S765P KinMutBase_RET_DNA:g.42318T>C mutType missense KinMutBase_RET_DNA:g.47720A>G protEffect R972G KinMutBase_RET_DNA:g.47720A>G mutType missense KinMutBase_RET_DNA:g.44100G>A protEffect R897Q KinMutBase_RET_DNA:g.44100G>A mutType missense KinMutBase_RET_DNA:g.47724C>T protEffect P973L KinMutBase_RET_DNA:g.47724C>T mutType missense KinMutBase_RET_DNA:g.45905T>C protEffect M918T KinMutBase_RET_DNA:g.45905T>C mutType missense KinMutBase_RET_DNA:g.45913G>T protEffect E921X KinMutBase_RET_DNA:g.45913G>T mutType nonsense KinMutBase_RET_DNA:g.42329G>C protEffect E768D KinMutBase_RET_DNA:g.42329G>C mutType missense KinMutBase_RET_DNA:g.40668G>C protEffect E762Q KinMutBase_RET_DNA:g.40668G>C mutType missense KinMutBase_STK11_DNA:g.15407delC protEffect P281X286 KinMutBase_STK11_DNA:g.15407delC mutType frameshift KinMutBase_STK11_DNA:g.15407C>T protEffect P281L KinMutBase_STK11_DNA:g.15407C>T mutType missense KinMutBase_STK11_DNA:g.15304delA protEffect N247X286 KinMutBase_STK11_DNA:g.15304delA mutType frameshift KinMutBase_STK11_DNA:g.15300delC protEffect L245X286 KinMutBase_STK11_DNA:g.15300delC mutType frameshift KinMutBase_STK11_DNA:g.13454delC protEffect 140_140delins21 KinMutBase_STK11_DNA:g.13454delC mutType frameshift KinMutBase_STK11_DNA:g.14714G>A protEffect G215D KinMutBase_STK11_DNA:g.14714G>A mutType missense KinMutBase_STK11_DNA:g.14506G>A protEffect G171S KinMutBase_STK11_DNA:g.14506G>A mutType missense KinMutBase_STK11_DNA:g.14590G>A protEffect E199K KinMutBase_STK11_DNA:g.14590G>A mutType missense KinMutBase_STK11_DNA:g.14692G>A protEffect D208N KinMutBase_STK11_DNA:g.14692G>A mutType missense KinMutBase_STK11_DNA:g.1180C>G protEffect Y60X KinMutBase_STK11_DNA:g.1180C>G mutType nonsense KinMutBase_STK11_DNA:g.15324C>A protEffect Y253X KinMutBase_STK11_DNA:g.15324C>A mutType nonsense KinMutBase_STK11_DNA:g.14786delG protEffect W239X286 KinMutBase_STK11_DNA:g.14786delG mutType frameshift KinMutBase_STK11_DNA:g.14503C>T protEffect Q170X KinMutBase_STK11_DNA:g.14503C>T mutType nonsense KinMutBase_STK11_DNA:g.15408delG protEffect P281X286 KinMutBase_STK11_DNA:g.15408delG mutType frameshift KinMutBase_STK11_DNA:g.1200T>C protEffect L67P KinMutBase_STK11_DNA:g.1200T>C mutType missense KinMutBase_STK11_DNA:g.1250A>T protEffect K84X KinMutBase_STK11_DNA:g.1250A>T mutType nonsense KinMutBase_STK11_DNA:g.16081delT protEffect I303X335 KinMutBase_STK11_DNA:g.16081delT mutType frameshift KinMutBase_STK11_DNA:g.14483G>A protEffect G163D KinMutBase_STK11_DNA:g.14483G>A mutType missense KinMutBase_STK11_DNA:g.1208G>T protEffect E70X KinMutBase_STK11_DNA:g.1208G>T mutType nonsense KinMutBase_STK11_DNA:g.1169G>T protEffect E57X KinMutBase_STK11_DNA:g.1169G>T mutType nonsense KinMutBase_STK11_DNA:g.14575G>T protEffect D194Y KinMutBase_STK11_DNA:g.14575G>T mutType missense KinMutBase_TEK_DNA:g.49939C>T protEffect R849W KinMutBase_TEK_DNA:g.49939C>T mutType missense KinMutBase_PAK3_DNA:g.74385C>T protEffect R419X KinMutBase_PAK3_DNA:g.74385C>T mutType nonsense KinMutBase_NTRK1_DNA:g.19327C>T protEffect R643W KinMutBase_NTRK1_DNA:g.19327C>T mutType missense KinMutBase_NTRK1_DNA:g.16493delC protEffect R548X651 KinMutBase_NTRK1_DNA:g.16493delC mutType frameshift KinMutBase_NTRK1_DNA:g.16592A>G protEffect M581V KinMutBase_NTRK1_DNA:g.16592A>G mutType missense KinMutBase_NTRK1_DNA:g.19192C>T protEffect H598Y KinMutBase_NTRK1_DNA:g.19192C>T mutType missense KinMutBase_NTRK1_DNA:g.20158G>A protEffect G708S KinMutBase_NTRK1_DNA:g.20158G>A mutType missense KinMutBase_NTRK1_DNA:g.19220G>T protEffect G607V KinMutBase_NTRK1_DNA:g.19220G>T mutType missense KinMutBase_NTRK1_DNA:g.16562G>C protEffect G571R KinMutBase_NTRK1_DNA:g.16562G>C mutType missense KinMutBase_MET_DNA:g.111955T>C protEffect Y1230H KinMutBase_MET_DNA:g.111955T>C mutType missense KinMutBase_MET_DNA:g.111956A>G protEffect Y1230C KinMutBase_MET_DNA:g.111956A>G mutType missense KinMutBase_MET_DNA:g.111925G>A protEffect V1220I KinMutBase_MET_DNA:g.111925G>A mutType missense KinMutBase_MET_DNA:g.110623G>T protEffect V1188L KinMutBase_MET_DNA:g.110623G>T mutType missense KinMutBase_MET_DNA:g.112016T>C protEffect M1250T KinMutBase_MET_DNA:g.112016T>C mutType missense KinMutBase_MET_DNA:g.107423T>C protEffect M1131T KinMutBase_MET_DNA:g.107423T>C mutType missense KinMutBase_MET_DNA:g.110644C>G protEffect L1195V KinMutBase_MET_DNA:g.110644C>G mutType missense KinMutBase_MET_DNA:g.111949G>A protEffect D1228N KinMutBase_MET_DNA:g.111949G>A mutType missense KinMutBase_MET_DNA:g.111949G>C protEffect D1228H KinMutBase_MET_DNA:g.111949G>C mutType missense KinMutBase_KIT_DNA:g.71041delA protEffect K642X644 KinMutBase_KIT_DNA:g.71041delA mutType frameshift KinMutBase_KIT_DNA:g.71065A>C protEffect H650P KinMutBase_KIT_DNA:g.71065A>C mutType missense KinMutBase_KIT_DNA:g.71006delT protEffect H630X631 KinMutBase_KIT_DNA:g.71006delT mutType frameshift KinMutBase_KIT_DNA:g.71006T>A protEffect H630Q KinMutBase_KIT_DNA:g.71006T>A mutType missense KinMutBase_KIT_DNA:g.71106G>A protEffect G664R KinMutBase_KIT_DNA:g.71106G>A mutType missense KinMutBase_KIT_DNA:g.79580A>C protEffect E861A KinMutBase_KIT_DNA:g.79580A>C mutType missense KinMutBase_KIT_DNA:g.76152A>G protEffect D820G KinMutBase_KIT_DNA:g.76152A>G mutType missense KinMutBase_KIT_DNA:g.76140A>T protEffect D816V KinMutBase_KIT_DNA:g.76140A>T mutType missense KinMutBase_KIT_DNA:g.70894G>A protEffect A621T KinMutBase_KIT_DNA:g.70894G>A mutType missense KinMutBase_ACVRL1_DNA:g.4745G>A protEffect R411Q KinMutBase_ACVRL1_DNA:g.4745G>A mutType missense KinMutBase_ACVRL1_DNA:g.4633C>T protEffect R374W KinMutBase_ACVRL1_DNA:g.4633C>T mutType missense KinMutBase_ACVRL1_DNA:g.7534C>A protEffect P424T KinMutBase_ACVRL1_DNA:g.7534C>A mutType missense KinMutBase_ACVRL1_DNA:g.4640T>G protEffect M376R KinMutBase_ACVRL1_DNA:g.4640T>G mutType missense KinMutBase_INSR_DNA:g.175329G>C protEffect W1227S KinMutBase_INSR_DNA:g.175329G>C mutType missense KinMutBase_INSR_DNA:g.174272G>T protEffect W1220L KinMutBase_INSR_DNA:g.174272G>T mutType missense KinMutBase_INSR_DNA:g.174215G>A protEffect R1201Q KinMutBase_INSR_DNA:g.174215G>A mutType missense KinMutBase_INSR_DNA:g.174185G>A protEffect R1191Q KinMutBase_INSR_DNA:g.174185G>A mutType missense KinMutBase_INSR_DNA:g.172222G>A protEffect R1158Q KinMutBase_INSR_DNA:g.172222G>A mutType missense KinMutBase_INSR_DNA:g.174227C>T protEffect P1205L KinMutBase_INSR_DNA:g.174227C>T mutType missense KinMutBase_INSR_DNA:g.174153G>A protEffect M1180I KinMutBase_INSR_DNA:g.174153G>A mutType missense KinMutBase_INSR_DNA:g.172157delG protEffect M1136X1150 KinMutBase_INSR_DNA:g.172157delG mutType frameshift KinMutBase_INSR_DNA:g.171927A>G protEffect K1095E KinMutBase_INSR_DNA:g.171927A>G mutType missense KinMutBase_INSR_DNA:g.174231G>C protEffect E1206D KinMutBase_INSR_DNA:g.174231G>C mutType missense KinMutBase_INSR_DNA:g.172234C>A protEffect A1162E KinMutBase_INSR_DNA:g.172234C>A mutType missense KinMutBase_INSR_DNA:g.172230G>A protEffect A1161T KinMutBase_INSR_DNA:g.172230G>A mutType missense KinMutBase_INSR_DNA:g.169575C>A protEffect A1075D KinMutBase_INSR_DNA:g.169575C>A mutType missense KinMutBase_FGFR3_DNA:g.12748A>C protEffect N540T KinMutBase_FGFR3_DNA:g.12748A>C mutType missense KinMutBase_FGFR3_DNA:g.12749C>G protEffect N540K KinMutBase_FGFR3_DNA:g.12749C>G mutType missense KinMutBase_FGFR3_DNA:g.12749C>A protEffect N540K KinMutBase_FGFR3_DNA:g.12749C>A mutType missense KinMutBase_FGFR3_DNA:g.13268A>T protEffect K650M KinMutBase_FGFR3_DNA:g.13268A>T mutType missense KinMutBase_FGFR3_DNA:g.13267A>G protEffect K650E KinMutBase_FGFR3_DNA:g.13267A>G mutType missense KinMutBase_FGFR3_DNA:g.12741A>G protEffect I538V KinMutBase_FGFR3_DNA:g.12741A>G mutType missense KinMutBase_CDK4_DNA:g.1072G>A protEffect R24H KinMutBase_CDK4_DNA:g.1072G>A mutType missense KinMutBase_CDK4_DNA:g.1071C>T protEffect R24C KinMutBase_CDK4_DNA:g.1071C>T mutType missense KinMutBase_CDK4_DNA:g.1123A>G protEffect N41S KinMutBase_CDK4_DNA:g.1123A>G mutType missense KinMutBase_ZAP70_DNA:g.14792C>A protEffect S518R KinMutBase_ZAP70_DNA:g.14792C>A mutType missense KinMutBase_ZAP70_DNA:g.14959A>A protEffect K542K KinMutBase_ZAP70_DNA:g.14959A>A mutType missense KinMutBase_ZAP70_DNA:g.14758C>T protEffect A507V KinMutBase_ZAP70_DNA:g.14758C>T mutType missense KinMutBase_ZAP70_DNA:g.15049A>T protEffect M572L KinMutBase_ZAP70_DNA:g.15049A>T mutType missense KinMutBase_ZAP70_DNA:g.14748delA protEffect K504X543 KinMutBase_ZAP70_DNA:g.14748delA mutType frameshift KinMutBase_ZAP70_DNA:g.14948G>A protEffect 541_542insLEQ KinMutBase_ZAP70_DNA:g.14948G>A mutType inframe KinMutBase_ZAP70_DNA:g.14540C>T protEffect R465C KinMutBase_ZAP70_DNA:g.14540C>T mutType missense KinMutBase_U78027.1:g.68190A>C protEffect T606P KinMutBase_U78027.1:g.68190A>C mutType missense KinMutBase_U78027.1:g.64518A>T protEffect 384_384delins91 KinMutBase_U78027.1:g.64518A>T mutType loss KinMutBase_U78027.1:g.66839T>C protEffect L542P KinMutBase_U78027.1:g.66839T>C mutType missense KinMutBase_U78027.1:g.71555T>C protEffect L648P KinMutBase_U78027.1:g.71555T>C mutType missense KinMutBase_U78027.1:g.65416G>A protEffect R520Q KinMutBase_U78027.1:g.65416G>A mutType missense KinMutBase_U78027.1:g.67537T>A protEffect V561D KinMutBase_U78027.1:g.67537T>A mutType missense KinMutBase_U78027.1:g.65232C>T protEffect Q459X KinMutBase_U78027.1:g.65232C>T mutType nonsense KinMutBase_U78027.1:g.68280G>T protEffect E636X KinMutBase_U78027.1:g.68280G>T mutType nonsense KinMutBase_U78027.1:g.67527A>T protEffect K558X KinMutBase_U78027.1:g.67527A>T mutType nonsense KinMutBase_U78027.1:g.66788G>A protEffect R525Q KinMutBase_U78027.1:g.66788G>A mutType missense KinMutBase_U78027.1:g.65390C>A protEffect Y511X KinMutBase_U78027.1:g.65390C>A mutType nonsense KinMutBase_U78027.1:g.65382A>G protEffect M509V KinMutBase_U78027.1:g.65382A>G mutType missense KinMutBase_U78027.1:g.67605G>T protEffect G584W KinMutBase_U78027.1:g.67605G>T mutType missense KinMutBase_U78027.1:g.65242G>A protEffect G462D KinMutBase_U78027.1:g.65242G>A mutType missense KinMutBase_U78027.1:g.65236T>A protEffect L460X KinMutBase_U78027.1:g.65236T>A mutType nonsense KinMutBase_U78027.1:g.68166T>G protEffect Y598D KinMutBase_U78027.1:g.68166T>G mutType missense KinMutBase_U78027.1:g.68184delA protEffect S604X648 KinMutBase_U78027.1:g.68184delA mutType frameshift KinMutBase_U78027.1:g.68155G>A protEffect G594E KinMutBase_U78027.1:g.68155G>A mutType missense KinMutBase_U78027.1:g.65363C>G protEffect C502W KinMutBase_U78027.1:g.65363C>G mutType missense KinMutBase_U78027.1:g.67570_67571insT protEffect S572X579 KinMutBase_U78027.1:g.67570_67571insT mutType frameshift KinMutBase_U78027.1:g.63920dupG protEffect 378_378delins21 KinMutBase_U78027.1:g.63920dupG mutType frameshift KinMutBase_U78027.1:g.67600C>T protEffect A582V KinMutBase_U78027.1:g.67600C>T mutType missense KinMutBase_U78027.1:g.68229C>A protEffect P619T KinMutBase_U78027.1:g.68229C>A mutType missense KinMutBase_U78027.1:g.68242C>T protEffect S623L KinMutBase_U78027.1:g.68242C>T mutType missense KinMutBase_U78027.1:g.65374G>A protEffect C506Y KinMutBase_U78027.1:g.65374G>A mutType missense KinMutBase_U78027.1:g.64617C>A protEffect Y425X KinMutBase_U78027.1:g.64617C>A mutType nonsense KinMutBase_U78027.1:g.66793T>A protEffect C527S KinMutBase_U78027.1:g.66793T>A mutType missense KinMutBase_U78027.1:g.66795delT protEffect C527X529 KinMutBase_U78027.1:g.66795delT mutType frameshift KinMutBase_U78027.1:g.65283T>G protEffect Y476D KinMutBase_U78027.1:g.65283T>G mutType missense KinMutBase_U78027.1:g.65253A>T protEffect K466X KinMutBase_U78027.1:g.65253A>T mutType nonsense KinMutBase_U78027.1:g.65213delT protEffect L452X483 KinMutBase_U78027.1:g.65213delT mutType frameshift KinMutBase_U78027.1:g.64605G>A protEffect W421X KinMutBase_U78027.1:g.64605G>A mutType nonsense KinMutBase_U78027.1:g.68212G>A protEffect G613D KinMutBase_U78027.1:g.68212G>A mutType missense KinMutBase_U78027.1:g.65218A>G protEffect H454R KinMutBase_U78027.1:g.65218A>G mutType missense KinMutBase_U78027.1:g.66769_66772delTTTG protEffect A523X527 KinMutBase_U78027.1:g.66769_66772delTTTG mutType loss KinMutBase_U78027.1:g.65388_65389insG protEffect Y511X KinMutBase_U78027.1:g.65388_65389insG mutType nonsense KinMutBase_U78027.1:g.67566delT protEffect Y571X586 KinMutBase_U78027.1:g.67566delT mutType frameshift KinMutBase_U78027.1:g.67554G>A protEffect E567K KinMutBase_U78027.1:g.67554G>A mutType missense KinMutBase_U78027.1:g.68220C>T protEffect L616F KinMutBase_U78027.1:g.68220C>T mutType missense KinMutBase_U78027.1:g.67539C>T protEffect R562W KinMutBase_U78027.1:g.67539C>T mutType missense KinMutBase_U78027.1:g.66781delG protEffect A523X529 KinMutBase_U78027.1:g.66781delG mutType frameshift KinMutBase_U78027.1:g.68261_68262insT protEffect M630X636 KinMutBase_U78027.1:g.68261_68262insT mutType frameshift KinMutBase_U78027.1:g.65242G>T protEffect G462V KinMutBase_U78027.1:g.65242G>T mutType missense KinMutBase_U78027.1:g.68194C>A protEffect A607D KinMutBase_U78027.1:g.68194C>A mutType missense KinMutBase_U78027.1:g.65392T>C protEffect L512P KinMutBase_U78027.1:g.65392T>C mutType missense KinMutBase_U78027.1:g.66787C>T protEffect R525X KinMutBase_U78027.1:g.66787C>T mutType nonsense KinMutBase_U78027.1:g.67600delC protEffect A582X586 KinMutBase_U78027.1:g.67600delC mutType frameshift KinMutBase_U78027.1:g.63962A>G protEffect G391G KinMutBase_U78027.1:g.63962A>G mutType missense KinMutBase_U78027.1:g.65373T>C protEffect C506R KinMutBase_U78027.1:g.65373T>C mutType missense KinMutBase_U78027.1:g.65368A>T protEffect D504V KinMutBase_U78027.1:g.65368A>T mutType missense KinMutBase_U78027.1:g.71534G>A protEffect R641H KinMutBase_U78027.1:g.71534G>A mutType missense KinMutBase_U78027.1:g.68258C>T protEffect T628T KinMutBase_U78027.1:g.68258C>T mutType missense KinMutBase_U78027.1:g.68266delA protEffect Y631X648 KinMutBase_U78027.1:g.68266delA mutType frameshift KinMutBase_U78027.1:g.68275G>C protEffect W634S KinMutBase_U78027.1:g.68275G>C mutType missense KinMutBase_U78027.1:g.68140A>G protEffect E589G KinMutBase_U78027.1:g.68140A>G mutType missense KinMutBase_U78027.1:g.67603T>C protEffect F583S KinMutBase_U78027.1:g.67603T>C mutType missense KinMutBase_U78027.1:g.65212T>C protEffect L452P KinMutBase_U78027.1:g.65212T>C mutType missense KinMutBase_U78027.1:g.63968delT protEffect G393X409 KinMutBase_U78027.1:g.63968delT mutType gain KinMutBase_U78027.1:g.68167A>G protEffect Y598C KinMutBase_U78027.1:g.68167A>G mutType missense KinMutBase_U78027.1:g.64569dupG protEffect T410X439 KinMutBase_U78027.1:g.64569dupG mutType frameshift KinMutBase_U78027.1:g.66794G>T protEffect C527F KinMutBase_U78027.1:g.66794G>T mutType missense KinMutBase_U78027.1:g.64663G>T protEffect E441X KinMutBase_U78027.1:g.64663G>T mutType nonsense KinMutBase_U78027.1:g.66802delA protEffect N530X555 KinMutBase_U78027.1:g.66802delA mutType frameshift KinMutBase_U78027.1:g.67598G>A protEffect W581X KinMutBase_U78027.1:g.67598G>A mutType nonsense KinMutBase_U78027.1:g.65374G>T protEffect C506F KinMutBase_U78027.1:g.65374G>T mutType missense KinMutBase_U78027.1:g.67548C>A protEffect P565T KinMutBase_U78027.1:g.67548C>A mutType missense KinMutBase_U78027.1:g.64630A>G protEffect K430E KinMutBase_U78027.1:g.64630A>G mutType missense KinMutBase_U78027.1:g.68137G>A protEffect W588X KinMutBase_U78027.1:g.68137G>A mutType nonsense KinMutBase_U78027.1:g.65384G>A protEffect M509I KinMutBase_U78027.1:g.65384G>A mutType missense KinMutBase_U78027.1:g.66846G>C protEffect R544X545 KinMutBase_U78027.1:g.66846G>C mutType gain KinMutBase_U78027.1:g.68154G>C protEffect G594R KinMutBase_U78027.1:g.68154G>C mutType missense KinMutBase_U78027.1:g.71520_71521insT protEffect K637X KinMutBase_U78027.1:g.71520_71521insT mutType nonsense KinMutBase_U78027.1:g.71544C>A protEffect F644L KinMutBase_U78027.1:g.71544C>A mutType missense KinMutBase_U78027.1:g.65415C>T protEffect R520X KinMutBase_U78027.1:g.65415C>T mutType nonsense KinMutBase_U78027.1:g.67531T>C protEffect F559S KinMutBase_U78027.1:g.67531T>C mutType missense KinMutBase_U78027.1:g.68229C>T protEffect P619S KinMutBase_U78027.1:g.68229C>T mutType missense KinMutBase_U78027.1:g.67487G>T protEffect R544S KinMutBase_U78027.1:g.67487G>T mutType missense KinMutBase_U78027.1:g.66792C>G protEffect N526K KinMutBase_U78027.1:g.66792C>G mutType missense KinMutBase_U78027.1:g.71552T>G protEffect L647R KinMutBase_U78027.1:g.71552T>G mutType missense KinMutBase_U78027.1:g.63965C>A protEffect Y392X KinMutBase_U78027.1:g.63965C>A mutType nonsense KinMutBase_U78027.1:g.71537delC protEffect P642X648 KinMutBase_U78027.1:g.71537delC mutType frameshift KinMutBase_U78027.1:g.67516C>G protEffect S554X KinMutBase_U78027.1:g.67516C>G mutType nonsense KinMutBase_U78027.1:g.68263T>A protEffect M630K KinMutBase_U78027.1:g.68263T>A mutType missense KinMutBase_U78027.1:g.68208delC protEffect Q612X648 KinMutBase_U78027.1:g.68208delC mutType frameshift KinMutBase_U78027.1:g.68268delA protEffect S632X648 KinMutBase_U78027.1:g.68268delA mutType frameshift KinMutBase_U78027.1:g.64630delA protEffect K430X431 KinMutBase_U78027.1:g.64630delA mutType frameshift KinMutBase_U78027.1:g.67540G>C protEffect R562P KinMutBase_U78027.1:g.67540G>C mutType missense KinMutBase_U78027.1:g.68134T>C protEffect M587T KinMutBase_U78027.1:g.68134T>C mutType missense KinMutBase_U78027.1:g.66793delT protEffect C527X529 KinMutBase_U78027.1:g.66793delT mutType frameshift KinMutBase_U78027.1:g.68238G>C protEffect A622P KinMutBase_U78027.1:g.68238G>C mutType missense KinMutBase_U78027.1:g.68186_68187insG protEffect E605X608 KinMutBase_U78027.1:g.68186_68187insG mutType frameshift KinMutBase_U78027.1:g.63964dupA protEffect Y392X KinMutBase_U78027.1:g.63964dupA mutType nonsense KinMutBase_U78027.1:g.68172A>T protEffect R600X KinMutBase_U78027.1:g.68172A>T mutType nonsense KinMutBase_U78027.1:g.66779A>C protEffect A523X527 KinMutBase_U78027.1:g.66779A>C mutType deletion KinMutBase_U78027.1:g.66844A>G protEffect R544G KinMutBase_U78027.1:g.66844A>G mutType missense KinMutBase_U78027.1:g.68272G>A protEffect C633Y KinMutBase_U78027.1:g.68272G>A mutType missense KinMutBase_U78027.1:g.67543G>T protEffect W563L KinMutBase_U78027.1:g.67543G>T mutType missense KinMutBase_U78027.1:g.65418G>A protEffect D521N KinMutBase_U78027.1:g.65418G>A mutType missense KinMutBase_U78027.1:g.68255_68256insC protEffect T628X636 KinMutBase_U78027.1:g.68255_68256insC mutType frameshift KinMutBase_U78027.1:g.63945delT protEffect S386X402 KinMutBase_U78027.1:g.63945delT mutType frameshift KinMutBase_U78027.1:g.68163C>A protEffect P597T KinMutBase_U78027.1:g.68163C>A mutType missense KinMutBase_U78027.1:g.67543G>A protEffect W563X KinMutBase_U78027.1:g.67543G>A mutType nonsense KinMutBase_U78027.1:g.66782C>A protEffect A523E KinMutBase_U78027.1:g.66782C>A mutType missense KinMutBase_U78027.1:g.63920_63921ins6 protEffect S378X397 KinMutBase_U78027.1:g.63920_63921ins6 mutType frameshift KinMutBase_U78027.1:g.68223_68224insC protEffect Y617X636 KinMutBase_U78027.1:g.68223_68224insC mutType frameshift KinMutBase_U78027.1:g.66828delT protEffect S538X555 KinMutBase_U78027.1:g.66828delT mutType frameshift KinMutBase_U78027.1:g.65285delC protEffect Y476X KinMutBase_U78027.1:g.65285delC mutType nonsense KinMutBase_U78027.1:g.65382dupA protEffect M509X536 KinMutBase_U78027.1:g.65382dupA mutType frameshift KinMutBase_U78027.1:g.71564delT protEffect I651X652 KinMutBase_U78027.1:g.71564delT mutType frameshift KinMutBase_U78027.1:g.65419A>G protEffect D521G KinMutBase_U78027.1:g.65419A>G mutType missense KinMutBase_U78027.1:g.64565T>C protEffect L408P KinMutBase_U78027.1:g.64565T>C mutType missense KinMutBase_U78027.1:g.71567T>C protEffect L652P KinMutBase_U78027.1:g.71567T>C mutType missense KinMutBase_U78027.1:g.68208C>T protEffect Q612X KinMutBase_U78027.1:g.68208C>T mutType nonsense KinMutBase_U78027.1:g.66845G>A protEffect R544K KinMutBase_U78027.1:g.66845G>A mutType missense KinMutBase_U78027.1:g.71533C>T protEffect R641C KinMutBase_U78027.1:g.71533C>T mutType missense KinMutBase_U78027.1:g.68276G>A protEffect W634X KinMutBase_U78027.1:g.68276G>A mutType nonsense KinMutBase_U78027.1:g.65383T>C protEffect M509T KinMutBase_U78027.1:g.65383T>C mutType missense KinMutBase_U78027.1:g.65324delG protEffect 489_489delins11 KinMutBase_U78027.1:g.65324delG mutType frameshift KinMutBase_U78027.1:g.63955dupG protEffect G389X398 KinMutBase_U78027.1:g.63955dupG mutType frameshift KinMutBase_U78027.1:g.65287T>G protEffect M477R KinMutBase_U78027.1:g.65287T>G mutType missense KinMutBase_U78027.1:g.65346C>T protEffect Q497X KinMutBase_U78027.1:g.65346C>T mutType nonsense KinMutBase_U78027.1:g.67568dupT protEffect S572X KinMutBase_U78027.1:g.67568dupT mutType nonsense KinMutBase_U78027.1:g.68251T>G protEffect V626G KinMutBase_U78027.1:g.68251T>G mutType missense KinMutBase_U78027.1:g.67553delG protEffect P566X569 KinMutBase_U78027.1:g.67553delG mutType frameshift KinMutBase_U78027.1:g.68265delT protEffect Y631X648 KinMutBase_U78027.1:g.68265delT mutType frameshift KinMutBase_U78027.1:g.64677A>C protEffect E445D KinMutBase_U78027.1:g.64677A>C mutType missense KinMutBase_U78027.1:g.71543T>C protEffect F644S KinMutBase_U78027.1:g.71543T>C mutType missense KinMutBase_U78027.1:g.63934A>T protEffect K382M KinMutBase_U78027.1:g.63934A>T mutType missense KinMutBase_U78027.1:g.64697T>G protEffect M450X451 KinMutBase_U78027.1:g.64697T>G mutType gain KinMutBase_U78027.1:g.65359T>C protEffect M501T KinMutBase_U78027.1:g.65359T>C mutType missense KinMutBase_U78027.1:g.67610G>A protEffect E599_T628del KinMutBase_U78027.1:g.67610G>A mutType loss KinMutBase_U78027.1:g.66780_66781insA protEffect A523X536 KinMutBase_U78027.1:g.66780_66781insA mutType frameshift KinMutBase_U78027.1:g.64582G>A protEffect G414R KinMutBase_U78027.1:g.64582G>A mutType missense KinMutBase_U78027.1:g.68147C>A protEffect Y591X KinMutBase_U78027.1:g.68147C>A mutType nonsense KinMutBase_U78027.1:g.66787C>G protEffect R525G KinMutBase_U78027.1:g.66787C>G mutType missense KinMutBase_U78027.1:g.67523delC protEffect G556X569 KinMutBase_U78027.1:g.67523delC mutType frameshift KinMutBase_U78027.1:g.65415C>G protEffect R520G KinMutBase_U78027.1:g.65415C>G mutType missense KinMutBase_U78027.1:g.67549C>T protEffect P565L KinMutBase_U78027.1:g.67549C>T mutType missense KinMutBase_U78027.1:g.65410T>G protEffect L518R KinMutBase_U78027.1:g.65410T>G mutType missense KinMutBase_U78027.1:g.68263T>C protEffect M630T KinMutBase_U78027.1:g.68263T>C mutType missense KinMutBase_U78027.1:g.67580C>A protEffect S575R KinMutBase_U78027.1:g.67580C>A mutType missense KinMutBase_U78027.1:g.65333delC protEffect R492X499 KinMutBase_U78027.1:g.65333delC mutType frameshift KinMutBase_U78027.1:g.68279dupT protEffect E636X KinMutBase_U78027.1:g.68279dupT mutType nonsense KinMutBase_U78027.1:g.64545delC protEffect D401X402 KinMutBase_U78027.1:g.64545delC mutType frameshift KinMutBase_U78027.1:g.68220delC protEffect L616X648 KinMutBase_U78027.1:g.68220delC mutType frameshift KinMutBase_U78027.1:g.67596T>C protEffect W581R KinMutBase_U78027.1:g.67596T>C mutType missense KinMutBase_U78027.1:g.67551C>T protEffect P566S KinMutBase_U78027.1:g.67551C>T mutType missense KinMutBase_U78027.1:g.66826T>C protEffect S538P KinMutBase_U78027.1:g.66826T>C mutType missense KinMutBase_U78027.1:g.68253T>C protEffect Y627H KinMutBase_U78027.1:g.68253T>C mutType missense KinMutBase_U78027.1:g.64628T>A protEffect I429N KinMutBase_U78027.1:g.64628T>A mutType missense KinMutBase_U78027.1:g.65323delT protEffect 489_489delins11 KinMutBase_U78027.1:g.65323delT mutType frameshift KinMutBase_U78027.1:g.66824T>A protEffect V537E KinMutBase_U78027.1:g.66824T>A mutType missense KinMutBase_U78027.1:g.66788G>C protEffect R525P KinMutBase_U78027.1:g.66788G>C mutType missense KinMutBase_U78027.1:g.68209A>C protEffect Q612P KinMutBase_U78027.1:g.68209A>C mutType missense KinMutBase_U78027.1:g.63924C>T protEffect Q379X KinMutBase_U78027.1:g.63924C>T mutType nonsense KinMutBase_U78027.1:g.66811delG protEffect G533X555 KinMutBase_U78027.1:g.66811delG mutType frameshift KinMutBase_U78027.1:g.66836G>A protEffect G541D KinMutBase_U78027.1:g.66836G>A mutType missense KinMutBase_U78027.1:g.68278delA protEffect H635X648 KinMutBase_U78027.1:g.68278delA mutType frameshift KinMutBase_U78027.1:g.65362G>T protEffect C502F KinMutBase_U78027.1:g.65362G>T mutType missense KinMutBase_U78027.1:g.65314T>C protEffect L486P KinMutBase_U78027.1:g.65314T>C mutType missense KinMutBase_U78027.1:g.68142delA protEffect I590X648 KinMutBase_U78027.1:g.68142delA mutType frameshift KinMutBase_U78027.1:g.68148T>C protEffect S592P KinMutBase_U78027.1:g.68148T>C mutType missense KinMutBase_U78027.1:g.68149C>A protEffect S592Y KinMutBase_U78027.1:g.68149C>A mutType missense KinMutBase_U78027.1:g.65312C>A protEffect Y485X KinMutBase_U78027.1:g.65312C>A mutType nonsense KinMutBase_U78027.1:g.68237delG protEffect L621X648 KinMutBase_U78027.1:g.68237delG mutType frameshift KinMutBase_U78027.1:g.68141A>T protEffect E589D KinMutBase_U78027.1:g.68141A>T mutType missense KinMutBase_U78027.1:g.64631A>G protEffect K430R KinMutBase_U78027.1:g.64631A>G mutType missense KinMutBase_U78027.1:g.68154G>A protEffect G594R KinMutBase_U78027.1:g.68154G>A mutType missense KinMutBase_U78027.1:g.68202_68203insC protEffect I610X636 KinMutBase_U78027.1:g.68202_68203insC mutType frameshift KinMutBase_U78027.1:g.67605delG protEffect G584X586 KinMutBase_U78027.1:g.67605delG mutType frameshift KinMutBase_U78027.1:g.68229C>G protEffect P619A KinMutBase_U78027.1:g.68229C>G mutType missense KinMutBase_U78027.1:g.68133A>C protEffect M587L KinMutBase_U78027.1:g.68133A>C mutType missense KinMutBase_U78027.1:g.65363C>A protEffect C502X KinMutBase_U78027.1:g.65363C>A mutType nonsense KinMutBase_U78027.1:g.67561T>C protEffect L569P KinMutBase_U78027.1:g.67561T>C mutType missense KinMutBase_U78027.1:g.64594T>C protEffect Y418H KinMutBase_U78027.1:g.64594T>C mutType missense KinMutBase_U78027.1:g.64692G>T protEffect G393X426 KinMutBase_U78027.1:g.64692G>T mutType loss KinMutBase_U78027.1:g.65418G>C protEffect D521H KinMutBase_U78027.1:g.65418G>C mutType missense KinMutBase_MERTK_DNA:g.110731C>T protEffect R651X KinMutBase_MERTK_DNA:g.110731C>T mutType nonsense KinMutBase_MERTK_DNA:g.112322delA protEffect T690X701 KinMutBase_MERTK_DNA:g.112322delA mutType frameshift KinMutBase_KIT_DNA:g.76079A>G protEffect R796G KinMutBase_KIT_DNA:g.76079A>G mutType missense KinMutBase_KIT_DNA:g.79537A>C protEffect T847P KinMutBase_KIT_DNA:g.79537A>C mutType missense KinMutBase_KIT_DNA:g.76139G>C protEffect D816H KinMutBase_KIT_DNA:g.76139G>C mutType missense KinMutBase_KIT_DNA:g.71040delA protEffect K642X644 KinMutBase_KIT_DNA:g.71040delA mutType frameshift KinMutBase_KIT_DNA:g.76064A>G protEffect R791G KinMutBase_KIT_DNA:g.76064A>G mutType missense KinMutBase_KIT_DNA:g.76128G>T protEffect G812V KinMutBase_KIT_DNA:g.76128G>T mutType missense KinMutBase_KIT_DNA:g.76139G>T protEffect D816Y KinMutBase_KIT_DNA:g.76139G>T mutType missense KinMutBase_KIT_DNA:g.79787delA protEffect E893X902 KinMutBase_KIT_DNA:g.79787delA mutType frameshift KinMutBase_FGFR3_DNA:g.12748A>G protEffect N540S KinMutBase_FGFR3_DNA:g.12748A>G mutType missense KinMutBase_FGFR3_DNA:g.13269G>T protEffect K650N KinMutBase_FGFR3_DNA:g.13269G>T mutType missense KinMutBase_FGFR3_DNA:g.13269G>C protEffect K650N KinMutBase_FGFR3_DNA:g.13269G>C mutType missense KinMutBase_FGFR3_DNA:g.13267A>C protEffect K650Q KinMutBase_FGFR3_DNA:g.13267A>C mutType missense KinMutBase_ROR2_DNA:g.226829G>A protEffect W720X KinMutBase_ROR2_DNA:g.226829G>A mutType nonsense KinMutBase_ROR2_DNA:g.226529T>A protEffect N620K KinMutBase_ROR2_DNA:g.226529T>A mutType missense KinMutBase_ROR2_DNA:g.226173C>T protEffect Q502X KinMutBase_ROR2_DNA:g.226173C>T mutType nonsense KinMutBase_CHEK2_DNA:g.49841delC protEffect T367X381 KinMutBase_CHEK2_DNA:g.49841delC mutType frameshift KinMutBase_CHEK2_DNA:g.51639delT protEffect R474X481 KinMutBase_CHEK2_DNA:g.51639delT mutType frameshift KinMutBase_FLT4_DNA:g.30803G>A protEffect G857R KinMutBase_FLT4_DNA:g.30803G>A mutType missense KinMutBase_FLT4_DNA:g.34082G>C protEffect R1041P KinMutBase_FLT4_DNA:g.34082G>C mutType missense KinMutBase_FLT4_DNA:g.34091T>C protEffect L1044P KinMutBase_FLT4_DNA:g.34091T>C mutType missense KinMutBase_FLT4_DNA:g.37445C>T protEffect P1114L KinMutBase_FLT4_DNA:g.37445C>T mutType missense KinMutBase_FLT4_DNA:g.34064A>G protEffect H1035R KinMutBase_FLT4_DNA:g.34064A>G mutType missense KinMutBase_STK11_DNA:g.13439G>C protEffect G135R KinMutBase_STK11_DNA:g.13439G>C mutType missense KinMutBase_STK11_DNA:g.14576A>T protEffect D194V KinMutBase_STK11_DNA:g.14576A>T mutType missense KinMutBase_STK11_DNA:g.12534delC protEffect H107X128 KinMutBase_STK11_DNA:g.12534delC mutType frameshift KinMutBase_STK11_DNA:g.12536A>G protEffect K108R KinMutBase_STK11_DNA:g.12536A>G mutType missense KinMutBase_STK11_DNA:g.15332A>C protEffect E256A KinMutBase_STK11_DNA:g.15332A>C mutType missense KinMutBase_STK11_DNA:g.14764T>C protEffect S232P KinMutBase_STK11_DNA:g.14764T>C mutType missense KinMutBase_STK11_DNA:g.16063G>A protEffect R297K KinMutBase_STK11_DNA:g.16063G>A mutType missense KinMutBase_STK11_DNA:g.14575G>A protEffect D194N KinMutBase_STK11_DNA:g.14575G>A mutType missense KinMutBase_STK11_DNA:g.1157dupG protEffect D53X162 KinMutBase_STK11_DNA:g.1157dupG mutType frameshift KinMutBase_ACVRL1_DNA:g.3976G>T protEffect S333I KinMutBase_ACVRL1_DNA:g.3976G>T mutType missense KinMutBase_ACVRL1_DNA:g.3902C>A protEffect C308X KinMutBase_ACVRL1_DNA:g.3902C>A mutType nonsense KinMutBase_ACVRL1_DNA:g.3842dupT protEffect L289X391 KinMutBase_ACVRL1_DNA:g.3842dupT mutType frameshift KinMutBase_JAK3_DNA:g.14105G>A protEffect V722I KinMutBase_JAK3_DNA:g.14105G>A mutType missense KinMutBase_JAK3_DNA:g.11054C>A protEffect C565X KinMutBase_JAK3_DNA:g.11054C>A mutType nonsense KinMutBase_HSU70065:g.9454T>C protEffect 734_784delins61 KinMutBase_HSU70065:g.9454T>C mutType frameshift KinMutBase_JAK3_DNA:g.14346T>C protEffect C759R KinMutBase_JAK3_DNA:g.14346T>C mutType missense KinMutBase_JAK3_DNA:g.11843G>T protEffect G589V KinMutBase_JAK3_DNA:g.11843G>T mutType missense KinMutBase_JAK3_DNA:g.11821C>T protEffect R582W KinMutBase_JAK3_DNA:g.11821C>T mutType missense KinMutBase_JAK3_DNA:g.18465delC protEffect C1024X1037 KinMutBase_JAK3_DNA:g.18465delC mutType frameshift KinMutBase_JAK3_DNA:g.17242T>C protEffect L910S KinMutBase_JAK3_DNA:g.17242T>C mutType missense KinMutBase_JAK3_DNA:g.18462C>A protEffect Y1023X KinMutBase_JAK3_DNA:g.18462C>A mutType nonsense KinMutBase_RPS6KA3_DNA:g.58324A>C protEffect L74F KinMutBase_RPS6KA3_DNA:g.58324A>C mutType missense KinMutBase_RPS6KA3_DNA:g.58340G>A protEffect G80R KinMutBase_RPS6KA3_DNA:g.58340G>A mutType missense KinMutBase_RPS6KA3_DNA:g.72502C>T protEffect R114W KinMutBase_RPS6KA3_DNA:g.72502C>T mutType missense KinMutBase_RPS6KA3_DNA:g.72518G>C protEffect R119P KinMutBase_RPS6KA3_DNA:g.72518G>C mutType missense KinMutBase_RPS6KA3_DNA:g.74119T>A protEffect I189K KinMutBase_RPS6KA3_DNA:g.74119T>A mutType missense KinMutBase_RPS6KA3_DNA:g.74130G>A protEffect D193N KinMutBase_RPS6KA3_DNA:g.74130G>A mutType missense KinMutBase_RPS6KA3_DNA:g.79723C>T protEffect T231I KinMutBase_RPS6KA3_DNA:g.79723C>T mutType missense KinMutBase_RPS6KA3_DNA:g.58307G>T protEffect E69X KinMutBase_RPS6KA3_DNA:g.58307G>T mutType nonsense KinMutBase_RPS6KA3_DNA:g.81297C>T protEffect Q269X KinMutBase_RPS6KA3_DNA:g.81297C>T mutType nonsense KinMutBase_RPS6KA3_DNA:g.79758C>T protEffect R243X KinMutBase_RPS6KA3_DNA:g.79758C>T mutType nonsense KinMutBase_RPS6KA3_DNA:g.90635T>A protEffect L311X KinMutBase_RPS6KA3_DNA:g.90635T>A mutType nonsense KinMutBase_RPS6KA3_DNA:g.94887G>C protEffect K451N KinMutBase_RPS6KA3_DNA:g.94887G>C mutType missense KinMutBase_RPS6KA3_DNA:g.98188T>G protEffect L467R KinMutBase_RPS6KA3_DNA:g.98188T>G mutType missense KinMutBase_RPS6KA3_DNA:g.98211A>G protEffect N475D KinMutBase_RPS6KA3_DNA:g.98211A>G mutType missense KinMutBase_RPS6KA3_DNA:g.99917T>G protEffect V492G KinMutBase_RPS6KA3_DNA:g.99917T>G mutType missense KinMutBase_RPS6KA3_DNA:g.99929T>G protEffect M496R KinMutBase_RPS6KA3_DNA:g.99929T>G mutType missense KinMutBase_RPS6KA3_DNA:g.102580A>T protEffect H537L KinMutBase_RPS6KA3_DNA:g.102580A>T mutType missense KinMutBase_RPS6KA3_DNA:g.102602C>A protEffect N544K KinMutBase_RPS6KA3_DNA:g.102602C>A mutType missense KinMutBase_RPS6KA3_DNA:g.102729C>T protEffect P587S KinMutBase_RPS6KA3_DNA:g.102729C>T mutType missense KinMutBase_RPS6KA3_DNA:g.105888A>G protEffect N620D KinMutBase_RPS6KA3_DNA:g.105888A>G mutType missense KinMutBase_RPS6KA3_DNA:g.102669C>T protEffect Q567X KinMutBase_RPS6KA3_DNA:g.102669C>T mutType nonsense KinMutBase_TEK_DNA:g.55887A>C protEffect Y897S KinMutBase_TEK_DNA:g.55887A>C mutType missense KinMutBase_NTRK1_DNA:g.16208G>A protEffect G516R KinMutBase_NTRK1_DNA:g.16208G>A mutType missense KinMutBase_NTRK1_DNA:g.16637C>T protEffect R596X KinMutBase_NTRK1_DNA:g.16637C>T mutType nonsense KinMutBase_NTRK1_DNA:g.19342C>T protEffect R648C KinMutBase_NTRK1_DNA:g.19342C>T mutType missense KinMutBase_NTRK1_DNA:g.19402G>T protEffect D668Y KinMutBase_NTRK1_DNA:g.19402G>T mutType missense KinMutBase_NTRK1_DNA:g.21645dupT protEffect 771_771delins90 KinMutBase_NTRK1_DNA:g.21645dupT mutType frameshift KinMutBase_NTRK1_DNA:g.21656G>C protEffect R774P KinMutBase_NTRK1_DNA:g.21656G>C mutType missense KinMutBase_NTRK1_DNA:g.20102C>T protEffect P689L KinMutBase_NTRK1_DNA:g.20102C>T mutType missense KinMutBase_NTRK1_DNA:g.19242_19243insT protEffect P615X626 KinMutBase_NTRK1_DNA:g.19242_19243insT mutType frameshift KinMutBase_AY186092.1:g.21175C>T protEffect Q293X KinMutBase_AY186092.1:g.21175C>T mutType nonsense KinMutBase_AY186092.1:g.20671delT protEffect L274X287 KinMutBase_AY186092.1:g.20671delT mutType frameshift KinMutBase_AY186092.1:g.15978delA protEffect N207X212 KinMutBase_AY186092.1:g.15978delA mutType frameshift KinMutBase_RET_DNA:g.42326T>G protEffect S767R KinMutBase_RET_DNA:g.42326T>G mutType missense KinMutBase_RET_DNA:g.44028G>A protEffect R873Q KinMutBase_RET_DNA:g.44028G>A mutType missense KinMutBase_RET_DNA:g.44087T>C protEffect F893L KinMutBase_RET_DNA:g.44087T>C mutType missense KinMutBase_RET_DNA:g.44129A>G protEffect K907E KinMutBase_RET_DNA:g.44129A>G mutType missense KinMutBase_RET_DNA:g.47745T>C protEffect M980T KinMutBase_RET_DNA:g.47745T>C mutType missense KinMutBase_RET_DNA:g.45913G>A protEffect E921K KinMutBase_RET_DNA:g.45913G>A mutType missense KinMutBase_RET_DNA:g.40584G>A protEffect E734K KinMutBase_RET_DNA:g.40584G>A mutType missense KinMutBase_RET_DNA:g.47632G>C protEffect W942C KinMutBase_RET_DNA:g.47632G>C mutType missense KinMutBase_RET_DNA:g.47711C>T protEffect R969W KinMutBase_RET_DNA:g.47711C>T mutType missense KinMutBase_RET_DNA:g.44062G>C protEffect E884D KinMutBase_RET_DNA:g.44062G>C mutType missense KinMutBase_RET_DNA:g.42336G>A protEffect D771N KinMutBase_RET_DNA:g.42336G>A mutType missense KinMutBase_RET_DNA:g.43513G>A protEffect R813Q KinMutBase_RET_DNA:g.43513G>A mutType missense KinMutBase_RET_DNA:g.45917C>T protEffect S922F KinMutBase_RET_DNA:g.45917C>T mutType missense KinMutBase_STK11_DNA:g.17075G>T protEffect W308C KinMutBase_STK11_DNA:g.17075G>T mutType missense KinMutBase_STK11_DNA:g.14521G>A protEffect D176N KinMutBase_STK11_DNA:g.14521G>A mutType missense KinMutBase_STK11_DNA:g.14569dupA protEffect I192X265 KinMutBase_STK11_DNA:g.14569dupA mutType frameshift KinMutBase_STK11_DNA:g.16076delG protEffect R301X335 KinMutBase_STK11_DNA:g.16076delG mutType frameshift KinMutBase_STK11_DNA:g.1158delA protEffect 53_53delins11 KinMutBase_STK11_DNA:g.1158delA mutType frameshift KinMutBase_STK11_DNA:g.14465T>C protEffect F157S KinMutBase_STK11_DNA:g.14465T>C mutType missense KinMutBase_STK11_DNA:g.13490C>T protEffect Q152X KinMutBase_STK11_DNA:g.13490C>T mutType nonsense KinMutBase_STK11_DNA:g.14536A>T protEffect N181Y KinMutBase_STK11_DNA:g.14536A>T mutType missense KinMutBase_STK11_DNA:g.17074G>A protEffect W308X KinMutBase_STK11_DNA:g.17074G>A mutType nonsense KinMutBase_STK11_DNA:g.14728C>T protEffect Q220X KinMutBase_STK11_DNA:g.14728C>T mutType nonsense KinMutBase_MET_DNA:g.111970T>G protEffect Y1235D KinMutBase_MET_DNA:g.111970T>G mutType missense KinMutBase_MET_DNA:g.107549C>T protEffect T1173I KinMutBase_MET_DNA:g.107549C>T mutType missense KinMutBase_MET_DNA:g.112017G>A protEffect M1250I KinMutBase_MET_DNA:g.112017G>A mutType missense KinMutBase_MET_DNA:g.111998A>G protEffect K1244R KinMutBase_MET_DNA:g.111998A>G mutType missense KinMutBase_MET_DNA:g.106006A>G protEffect H1094R KinMutBase_MET_DNA:g.106006A>G mutType missense KinMutBase_MET_DNA:g.106005C>T protEffect H1094Y KinMutBase_MET_DNA:g.106005C>T mutType missense KinMutBase_MET_DNA:g.106041C>G protEffect H1106D KinMutBase_MET_DNA:g.106041C>G mutType missense KinMutBase_MET_DNA:g.105999G>A protEffect V1092I KinMutBase_MET_DNA:g.105999G>A mutType missense KinMutBase_KIT_DNA:g.79513G>A protEffect E839K KinMutBase_KIT_DNA:g.79513G>A mutType missense KinMutBase_RET_DNA:g.44057G>T protEffect A883S KinMutBase_RET_DNA:g.44057G>T mutType missense KinMutBase_RHOK_DNA:g.1001C>T protEffect T298M KinMutBase_RHOK_DNA:g.1001C>T mutType missense KinMutBase_RHOK_DNA:g.1097A>G protEffect N330S KinMutBase_RHOK_DNA:g.1097A>G mutType missense KinMutBase_RHOK_DNA:g.1421G>A protEffect R438H KinMutBase_RHOK_DNA:g.1421G>A mutType missense KinMutBase_CHEK2_DNA:g.33724G>T protEffect E239X KinMutBase_CHEK2_DNA:g.33724G>T mutType nonsense KinMutBase_CHEK2_DNA:g.33724G>A protEffect E239K KinMutBase_CHEK2_DNA:g.33724G>A mutType missense KinMutBase_CHEK2_DNA:g.33760A>T protEffect I251F KinMutBase_CHEK2_DNA:g.33760A>T mutType missense KinMutBase_CHEK2_DNA:g.45817G>A protEffect R318H KinMutBase_CHEK2_DNA:g.45817G>A mutType missense KinMutBase_CHEK2_DNA:g.45831A>C protEffect T323P KinMutBase_CHEK2_DNA:g.45831A>C mutType missense KinMutBase_CHEK2_DNA:g.45844A>G protEffect Y327C KinMutBase_CHEK2_DNA:g.45844A>G mutType missense KinMutBase_CHEK2_DNA:g.51644C>A protEffect T476K KinMutBase_CHEK2_DNA:g.51644C>A mutType missense KinMutBase_FGFR1_DNA:g.55008T>A protEffect W666R KinMutBase_FGFR1_DNA:g.55008T>A mutType missense KinMutBase_KIT_DNA:g.76159T>A protEffect N822K KinMutBase_KIT_DNA:g.76159T>A mutType missense KinMutBase_KIT_DNA:g.76160T>G protEffect Y823D KinMutBase_KIT_DNA:g.76160T>G mutType missense KinMutBase_KIT_DNA:g.76161A>G protEffect Y823C KinMutBase_KIT_DNA:g.76161A>G mutType missense KinMutBase_KIT_DNA:g.76095C>T protEffect T801I KinMutBase_KIT_DNA:g.76095C>T mutType missense KinMutBase_KIT_DNA:g.71040A>C protEffect K642Q KinMutBase_KIT_DNA:g.71040A>C mutType missense KinMutBase_KIT_DNA:g.76151G>T protEffect D820Y KinMutBase_KIT_DNA:g.76151G>T mutType missense KinMutBase_KIT_DNA:g.71040A>G protEffect K642E KinMutBase_KIT_DNA:g.71040A>G mutType missense KinMutBase_KIT_DNA:g.76157A>C protEffect N822H KinMutBase_KIT_DNA:g.76157A>C mutType missense KinMutBase_KIT_DNA:g.74314delA protEffect S715X724 KinMutBase_KIT_DNA:g.74314delA mutType frameshift KinMutBase_KIT_DNA:g.72437delA protEffect Y703X724 KinMutBase_KIT_DNA:g.72437delA mutType frameshift KinMutBase_KIT_DNA:g.76137G>A protEffect R815K KinMutBase_KIT_DNA:g.76137G>A mutType missense KinMutBase_FGFR3_DNA:g.13268A>C protEffect K650T KinMutBase_FGFR3_DNA:g.13268A>C mutType missense KinMutBase_FGFR2_DNA:g.100882A>C protEffect N549H KinMutBase_FGFR2_DNA:g.100882A>C mutType missense KinMutBase_FGFR2_DNA:g.102703A>G protEffect E565G KinMutBase_FGFR2_DNA:g.102703A>G mutType missense KinMutBase_FGFR2_DNA:g.111349A>G protEffect K641R KinMutBase_FGFR2_DNA:g.111349A>G mutType missense KinMutBase_FGFR2_DNA:g.111404G>T protEffect K659N KinMutBase_FGFR2_DNA:g.111404G>T mutType missense KinMutBase_FGFR2_DNA:g.111981G>A protEffect G663E KinMutBase_FGFR2_DNA:g.111981G>A mutType missense KinMutBase_FGFR2_DNA:g.112025A>G protEffect R678G KinMutBase_FGFR2_DNA:g.112025A>G mutType missense KinMutBase_INSR_DNA:g.169455G>T protEffect G1035V KinMutBase_INSR_DNA:g.169455G>T mutType missense KinMutBase_INSR_DNA:g.169515C>T protEffect A1055V KinMutBase_INSR_DNA:g.169515C>T mutType missense KinMutBase_INSR_DNA:g.171999C>T protEffect R1119W KinMutBase_INSR_DNA:g.171999C>T mutType missense KinMutBase_INSR_DNA:g.172177T>C protEffect I1143T KinMutBase_INSR_DNA:g.172177T>C mutType missense KinMutBase_INSR_DNA:g.172221C>T protEffect R1158W KinMutBase_INSR_DNA:g.172221C>T mutType missense KinMutBase_INSR_DNA:g.174214C>T protEffect R1201W KinMutBase_INSR_DNA:g.174214C>T mutType missense KinMutBase_INSR_DNA:g.174229G>A protEffect E1206K KinMutBase_INSR_DNA:g.174229G>A mutType missense KinMutBase_RET_DNA:g.43606G>T protEffect R844L KinMutBase_RET_DNA:g.43606G>T mutType missense KinMutBase_RET_DNA:g.48824C>T protEffect R982C KinMutBase_RET_DNA:g.48824C>T mutType missense KinMutBase_RHOK_DNA:g.1247T>A protEffect V380D KinMutBase_RHOK_DNA:g.1247T>A mutType missense KinMutBase_U29700:g.7064delC protEffect L444X480 KinMutBase_U29700:g.7064delC mutType frameshift KinMutBase_U29700:g.2790T>G protEffect H282Q KinMutBase_U29700:g.2790T>G mutType missense KinMutBase_U29700:g.6844A>G protEffect D426G KinMutBase_U29700:g.6844A>G mutType missense KinMutBase_U29700:g.7107T>C protEffect V458A KinMutBase_U29700:g.7107T>C mutType missense KinMutBase_U29700:g.8101G>C protEffect D491H KinMutBase_U29700:g.8101G>C mutType missense KinMutBase_U29700:g.8140C>T protEffect R504C KinMutBase_U29700:g.8140C>T mutType missense KinMutBase_U29700:g.6784G>A protEffect R406Q KinMutBase_U29700:g.6784G>A mutType missense KinMutBase_BMPR2_DNA:g.142357C>T protEffect R211X KinMutBase_BMPR2_DNA:g.142357C>T mutType nonsense KinMutBase_BMPR2_DNA:g.142415delA protEffect K230X251 KinMutBase_BMPR2_DNA:g.142415delA mutType frameshift KinMutBase_BMPR2_DNA:g.142453G>T protEffect E243X KinMutBase_BMPR2_DNA:g.142453G>T mutType nonsense KinMutBase_BMPR2_DNA:g.154346C>T protEffect R332X KinMutBase_BMPR2_DNA:g.154346C>T mutType nonsense KinMutBase_BMPR2_DNA:g.154428delC protEffect T359X374 KinMutBase_BMPR2_DNA:g.154428delC mutType frameshift KinMutBase_BMPR2_DNA:g.156173delT protEffect C397X401 KinMutBase_BMPR2_DNA:g.156173delT mutType frameshift KinMutBase_BMPR2_DNA:g.156240T>C protEffect C420R KinMutBase_BMPR2_DNA:g.156240T>C mutType missense KinMutBase_BMPR2_DNA:g.176299C>T protEffect R491W KinMutBase_BMPR2_DNA:g.176299C>T mutType missense KinMutBase_BMPR2_DNA:g.154451delG protEffect G367X374 KinMutBase_BMPR2_DNA:g.154451delG mutType frameshift KinMutBase_BMPR2_DNA:g.176300G>A protEffect R491Q KinMutBase_BMPR2_DNA:g.176300G>A mutType missense KinMutBase_BMPR2_DNA:g.142416A>T protEffect K230N KinMutBase_BMPR2_DNA:g.142416A>T mutType missense KinMutBase_BMPR2_DNA:g.176282A>G protEffect D485G KinMutBase_BMPR2_DNA:g.176282A>G mutType missense KinMutBase_BMPR2_DNA:g.154392G>A protEffect C347Y KinMutBase_BMPR2_DNA:g.154392G>A mutType missense KinMutBase_BMPR2_DNA:g.142512dupT protEffect G263X265 KinMutBase_BMPR2_DNA:g.142512dupT mutType frameshift KinMutBase_BMPR2_DNA:g.156230delA protEffect I416X418 KinMutBase_BMPR2_DNA:g.156230delA mutType frameshift KinMutBase_BMPR2_DNA:g.156228_156229insG protEffect I416X447 KinMutBase_BMPR2_DNA:g.156228_156229insG mutType frameshift KinMutBase_BMPR2_DNA:g.176275T>C protEffect C483R KinMutBase_BMPR2_DNA:g.176275T>C mutType missense KinMutBase_BMPR1A_DNA:g.161628C>T protEffect R273X KinMutBase_BMPR1A_DNA:g.161628C>T mutType nonsense KinMutBase_BMPR1A_DNA:g.163737C>T protEffect R361X KinMutBase_BMPR1A_DNA:g.163737C>T mutType nonsense KinMutBase_BMPR1A_DNA:g.163669C>A protEffect A338D KinMutBase_BMPR1A_DNA:g.163669C>A mutType missense KinMutBase_BMPR1A_DNA:g.163783G>A protEffect C376Y KinMutBase_BMPR1A_DNA:g.163783G>A mutType missense KinMutBase_BMPR1A_DNA:g.161526C>T protEffect Q239X KinMutBase_BMPR1A_DNA:g.161526C>T mutType nonsense KinMutBase_BMPR1A_DNA:g.161623G>A protEffect W271X KinMutBase_BMPR1A_DNA:g.161623G>A mutType nonsense KinMutBase_BMPR1A_DNA:g.163617delC protEffect L321X KinMutBase_BMPR1A_DNA:g.163617delC mutType nonsense KinMutBase_BMPR1A_DNA:g.161595delG protEffect 262_262delins21 KinMutBase_BMPR1A_DNA:g.161595delG mutType frameshift KinMutBase_BMPR1A_DNA:g.161637delG protEffect E276X282 KinMutBase_BMPR1A_DNA:g.161637delG mutType frameshift KinMutBase_RET_DNA:g.42329G>T protEffect E768D KinMutBase_RET_DNA:g.42329G>T mutType missense KinMutBase_RET_DNA:g.43485G>C protEffect V804L KinMutBase_RET_DNA:g.43485G>C mutType missense KinMutBase_RET_DNA:g.42410C>A protEffect S795R KinMutBase_RET_DNA:g.42410C>A mutType missense KinMutBase_RET_DNA:g.45916T>C protEffect S922P KinMutBase_RET_DNA:g.45916T>C mutType missense KinMutBase_RET_DNA:g.45941C>T protEffect T930M KinMutBase_RET_DNA:g.45941C>T mutType missense KinMutBase_RET_DNA:g.43620G>A protEffect G849S KinMutBase_RET_DNA:g.43620G>A mutType missense KinMutBase_RET_DNA:g.44027C>T protEffect R873W KinMutBase_RET_DNA:g.44027C>T mutType missense KinMutBase_RET_DNA:g.43597C>T protEffect P841L KinMutBase_RET_DNA:g.43597C>T mutType missense KinMutBase_STK11_DNA:g.14525T>A protEffect I177N KinMutBase_STK11_DNA:g.14525T>A mutType missense KinMutBase_STK11_DNA:g.16083C>T protEffect R304W KinMutBase_STK11_DNA:g.16083C>T mutType missense KinMutBase_STK11_DNA:g.14474T>C protEffect L160P KinMutBase_STK11_DNA:g.14474T>C mutType missense KinMutBase_STK11_DNA:g.14761T>C protEffect F231L KinMutBase_STK11_DNA:g.14761T>C mutType missense KinMutBase_STK11_DNA:g.1196G>A protEffect V66M KinMutBase_STK11_DNA:g.1196G>A mutType missense KinMutBase_TGFBR2_DNA:g.66055T>C protEffect V250A KinMutBase_TGFBR2_DNA:g.66055T>C mutType missense KinMutBase_TGFBR2_DNA:g.68316A>G protEffect Y448C KinMutBase_TGFBR2_DNA:g.68316A>G mutType missense KinMutBase_TGFBR2_DNA:g.82572A>G protEffect K488E KinMutBase_TGFBR2_DNA:g.82572A>G mutType missense KinMutBase_TGFBR2_DNA:g.66425G>T protEffect M373I KinMutBase_TGFBR2_DNA:g.66425G>T mutType missense KinMutBase_TGFBR2_DNA:g.66508C>T protEffect S401F KinMutBase_TGFBR2_DNA:g.66508C>T mutType missense KinMutBase_PAK3_DNA:g.72299C>A protEffect A365E KinMutBase_PAK3_DNA:g.72299C>A mutType missense KinMutBase_FLT3_DNA:g.53109G>T protEffect D835Y KinMutBase_FLT3_DNA:g.53109G>T mutType missense KinMutBase_FLT3_DNA:g.53110A>T protEffect D835V KinMutBase_FLT3_DNA:g.53110A>T mutType missense KinMutBase_FLT3_DNA:g.53109G>C protEffect D835H KinMutBase_FLT3_DNA:g.53109G>C mutType missense KinMutBase_FLT3_DNA:g.53111T>A protEffect D835E KinMutBase_FLT3_DNA:g.53111T>A mutType missense KinMutBase_FLT3_DNA:g.53109G>A protEffect D835N KinMutBase_FLT3_DNA:g.53109G>A mutType missense KinMutBase_FLT3_DNA:g.53112A>T protEffect I836F KinMutBase_FLT3_DNA:g.53112A>T mutType missense KinMutBase_FLT3_DNA:g.53110A>C protEffect D835A KinMutBase_FLT3_DNA:g.53110A>C mutType missense KinMutBase_FLT3_DNA:g.53111T>G protEffect D835E KinMutBase_FLT3_DNA:g.53111T>G mutType missense KinMutBase_FLT3_DNA:g.53109delG protEffect D835X837 KinMutBase_FLT3_DNA:g.53109delG mutType frameshift KinMutBase_FLT3_DNA:g.43422C>T protEffect A680V KinMutBase_FLT3_DNA:g.43422C>T mutType missense KinMutBase_FLT3_DNA:g.53110A>G protEffect D835G KinMutBase_FLT3_DNA:g.53110A>G mutType missense KinMutBase_FLT3_DNA:g.53112delA protEffect I836X837 KinMutBase_FLT3_DNA:g.53112delA mutType frameshift KinMutBase_FLT3_DNA:g.53113T>C protEffect I836T KinMutBase_FLT3_DNA:g.53113T>C mutType missense KinMutBase_FLT3_DNA:g.53113_53114insG protEffect I836X839 KinMutBase_FLT3_DNA:g.53113_53114insG mutType frameshift KinMutBase_FLT3_DNA:g.53126_53127insG protEffect N841X862 KinMutBase_FLT3_DNA:g.53126_53127insG mutType frameshift KinMutBase_BMPR1A_DNA:g.167795T>C protEffect M470T KinMutBase_BMPR1A_DNA:g.167795T>C mutType missense KinMutBase_AJ222657:g.8429G>A protEffect R660Q KinMutBase_AJ222657:g.8429G>A mutType missense KinMutBase_AJ222657:g.6858T>C protEffect F565S KinMutBase_AJ222657:g.6858T>C mutType missense KinMutBase_AJ222657:g.8156delG protEffect R602X636 KinMutBase_AJ222657:g.8156delG mutType frameshift KinMutBase_AJ222657:g.5311C>T protEffect R540C KinMutBase_AJ222657:g.5311C>T mutType missense KinMutBase_AJ222657:g.9184A>G protEffect Y746C KinMutBase_AJ222657:g.9184A>G mutType missense KinMutBase_AJ222657:g.8428C>T protEffect R660X KinMutBase_AJ222657:g.8428C>T mutType nonsense KinMutBase_AJ222657:g.9875C>T protEffect R768W KinMutBase_AJ222657:g.9875C>T mutType missense KinMutBase_AJ222657:g.9890A>C protEffect M773L KinMutBase_AJ222657:g.9890A>C mutType missense KinMutBase_AJ222657:g.10656C>T protEffect R838C KinMutBase_AJ222657:g.10656C>T mutType missense KinMutBase_AJ222657:g.10657G>A protEffect R838H KinMutBase_AJ222657:g.10657G>A mutType missense KinMutBase_AJ222657:g.10656C>A protEffect R838S KinMutBase_AJ222657:g.10656C>A mutType missense KinMutBase_AJ222657:g.10655G>C protEffect E837D KinMutBase_AJ222657:g.10655G>C mutType missense KinMutBase_PHKG2_DNA:g.8867G>A protEffect D215N KinMutBase_PHKG2_DNA:g.8867G>A mutType missense KinMutBase_PHKG2_DNA:g.9287G>A protEffect W300X KinMutBase_PHKG2_DNA:g.9287G>A mutType nonsense KinMutBase_PHKG2_DNA:g.3875delA protEffect 89_89delins21 KinMutBase_PHKG2_DNA:g.3875delA mutType frameshift KinMutBase_PHKG2_DNA:g.6069G>A protEffect E157K KinMutBase_PHKG2_DNA:g.6069G>A mutType missense KinMutBase_PHKG2_DNA:g.4153delC protEffect L93X109 KinMutBase_PHKG2_DNA:g.4153delC mutType frameshift KinMutBase_PHKG2_DNA:g.3739C>T protEffect R44X KinMutBase_PHKG2_DNA:g.3739C>T mutType nonsense KinMutBase_PHKG2_DNA:g.6033C>T protEffect H145Y KinMutBase_PHKG2_DNA:g.6033C>T mutType missense KinMutBase_PHKG2_DNA:g.8995T>G protEffect L226R KinMutBase_PHKG2_DNA:g.8995T>G mutType missense KinMutBase_INSR_DNA:g.169430C>T protEffect R1027X KinMutBase_INSR_DNA:g.169430C>T mutType nonsense KinMutBase_JAK3_DNA:g.14140delG protEffect K733X755 KinMutBase_JAK3_DNA:g.14140delG mutType frameshift KinMutBase_RET_DNA:g.44121C>G protEffect S904C KinMutBase_RET_DNA:g.44121C>G mutType missense KinMutBase_STK11_DNA:g.1198delG protEffect V66X95 KinMutBase_STK11_DNA:g.1198delG mutType frameshift KinMutBase_STK11_DNA:g.15396delC protEffect D277X286 KinMutBase_STK11_DNA:g.15396delC mutType frameshift KinMutBase_STK11_DNA:g.1197dupT protEffect V66X162 KinMutBase_STK11_DNA:g.1197dupT mutType frameshift KinMutBase_STK11_DNA:g.14720delC protEffect P217X286 KinMutBase_STK11_DNA:g.14720delC mutType frameshift KinMutBase_STK11_DNA:g.14787G>C protEffect W239C KinMutBase_STK11_DNA:g.14787G>C mutType missense KinMutBase_ACVRL1_DNA:g.4706T>A protEffect I398N KinMutBase_ACVRL1_DNA:g.4706T>A mutType missense KinMutBase_RPS6KA3_DNA:g.73365delC protEffect A136X163 KinMutBase_RPS6KA3_DNA:g.73365delC mutType frameshift KinMutBase_RPS6KA3_DNA:g.73409delA protEffect R151X163 KinMutBase_RPS6KA3_DNA:g.73409delA mutType frameshift KinMutBase_RPS6KA3_DNA:g.81295T>C protEffect F268S KinMutBase_RPS6KA3_DNA:g.81295T>C mutType missense KinMutBase_FLT4_DNA:g.31635C>T protEffect P954S KinMutBase_FLT4_DNA:g.31635C>T mutType missense KinMutBase_PHKG2_DNA:g.8790G>A protEffect G189E KinMutBase_PHKG2_DNA:g.8790G>A mutType missense KinMutBase_PHKG2_DNA:g.4193T>A protEffect V106E KinMutBase_PHKG2_DNA:g.4193T>A mutType missense KinMutBase_LTK_DNA:g.10479G>A protEffect E763K KinMutBase_LTK_DNA:g.10479G>A mutType missense OSTM1base_D0065:g.1106T>A protEffect C12X OSTM1base_D0065:g.1106T>A mutType nonsense OSTM1base_D0065:g.11435_11436delAG protEffect S139X150 OSTM1base_D0065:g.11435_11436delAG mutType frameshift OSTM1base_D0065:g.26474G>A mutType frameshift F12base_D0119:g.6346C>A protEffect T328K F12base_D0119:g.6346C>A mutType missense F12base_D0119:g.6346C>G protEffect T328R F12base_D0119:g.6346C>G mutType missense CLCN7base_CLCN7_DNA:g.15140dupT protEffect F143X145 CLCN7base_CLCN7_DNA:g.15140dupT mutType frameshift CLCN7base_CLCN7_DNA:g.15536G>A protEffect W179X CLCN7base_CLCN7_DNA:g.15536G>A mutType nonsense CLCN7base_CLCN7_DNA:g.16838G>A protEffect G203D CLCN7base_CLCN7_DNA:g.16838G>A mutType missense CLCN7base_CLCN7_DNA:g.16867C>T protEffect L213F CLCN7base_CLCN7_DNA:g.16867C>T mutType missense CLCN7base_CLCN7_DNA:g.16873G>A protEffect G215R CLCN7base_CLCN7_DNA:g.16873G>A mutType missense CLCN7base_CLCN7_DNA:g.18298G>A protEffect G240R CLCN7base_CLCN7_DNA:g.18298G>A mutType missense CLCN7base_CLCN7_DNA:g.25474C>T protEffect R526W CLCN7base_CLCN7_DNA:g.25474C>T mutType missense CLCN7base_CLCN7_DNA:g.18682C>T protEffect P249L CLCN7base_CLCN7_DNA:g.18682C>T mutType missense CLCN7base_CLCN7_DNA:g.19840G>A protEffect R286Q CLCN7base_CLCN7_DNA:g.19840G>A mutType missense CLCN7base_CLCN7_DNA:g.19839C>T protEffect R286W CLCN7base_CLCN7_DNA:g.19839C>T mutType missense CLCN7base_CLCN7_DNA:g.20774A>G protEffect M332V CLCN7base_CLCN7_DNA:g.20774A>G mutType missense CLCN7base_CLCN7_DNA:g.28974C>T protEffect R767W CLCN7base_CLCN7_DNA:g.28974C>T mutType missense CLCN7base_CLCN7_DNA:g.21547delA protEffect K367X395 CLCN7base_CLCN7_DNA:g.21547delA mutType frameshift CLCN7base_CLCN7_DNA:g.28443G>A protEffect R628X635 CLCN7base_CLCN7_DNA:g.28443G>A mutType deletion CLCN7base_CLCN7_DNA:g.25366C>T protEffect L490F CLCN7base_CLCN7_DNA:g.25366C>T mutType missense CLCN7base_CLCN7_DNA:g.26730C>T protEffect Q555X CLCN7base_CLCN7_DNA:g.26730C>T mutType nonsense CLCN7base_CLCN7_DNA:g.28960G>A protEffect R762Q CLCN7base_CLCN7_DNA:g.28960G>A mutType missense CLCN7base_CLCN7_DNA:g.28305G>A protEffect R674Q CLCN7base_CLCN7_DNA:g.28305G>A mutType missense CLCN7base_CLCN7_DNA:g.28314G>T protEffect G677V CLCN7base_CLCN7_DNA:g.28314G>T mutType missense CLCN7base_CLCN7_DNA:g.28346_28348delCTA protEffect L688del CLCN7base_CLCN7_DNA:g.28346_28348delCTA mutType inframe CLCN7base_CLCN7_DNA:g.28960G>T protEffect R762L CLCN7base_CLCN7_DNA:g.28960G>T mutType missense CLCN7base_CLCN7_DNA:g.28969G>A protEffect G765D CLCN7base_CLCN7_DNA:g.28969G>A mutType missense CLCN7base_CLCN7_DNA:g.28972T>C protEffect L766P CLCN7base_CLCN7_DNA:g.28972T>C mutType missense CLCN7base_CLCN7_DNA:g.28975G>A protEffect R767Q CLCN7base_CLCN7_DNA:g.28975G>A mutType missense CLCN7base_CLCN7_DNA:g.29326C>A protEffect A788D CLCN7base_CLCN7_DNA:g.29326C>A mutType missense CLCN7base_CLCN7_DNA:g.29348_29349delAG protEffect 795_796delins131 CLCN7base_CLCN7_DNA:g.29348_29349delAG mutType frameshift CA2base_CA2_DNA:g.2303C>T protEffect Q28X CA2base_CA2_DNA:g.2303C>T mutType nonsense CA2base_CA2_DNA:g.2320delC protEffect I33X44 CA2base_CA2_DNA:g.2320delC mutType frameshift CA2base_CA2_DNA:g.2341T>G protEffect Y40X CA2base_CA2_DNA:g.2341T>G mutType nonsense CA2base_CA2_DNA:g.2363_2366delTCTG protEffect S48X56 CA2base_CA2_DNA:g.2363_2366delTCTG mutType frameshift CA2base_CA2_DNA:g.2366_2369delGTTT protEffect V49X56 CA2base_CA2_DNA:g.2366_2369delGTTT mutType frameshift CA2base_CA2_DNA:g.2378delC protEffect Q53X57 CA2base_CA2_DNA:g.2378delC mutType frameshift CA2base_CA2_DNA:g.2412delA protEffect H64X90 CA2base_CA2_DNA:g.2412delA mutType frameshift CA2base_CA2_DNA:g.2441_2442delCA protEffect Q74X100 CA2base_CA2_DNA:g.2441_2442delCA mutType frameshift CA2base_CA2_DNA:g.10719A>C protEffect Q92P CA2base_CA2_DNA:g.10719A>C mutType missense CA2base_CA2_DNA:g.10724C>T protEffect H94Y CA2base_CA2_DNA:g.10724C>T mutType missense CA2base_CA2_DNA:g.11386G>C protEffect G144R CA2base_CA2_DNA:g.11386G>C mutType missense CA2base_CA2_DNA:g.10734G>A protEffect W97X CA2base_CA2_DNA:g.10734G>A mutType nonsense CA2base_CA2_DNA:g.10763C>T protEffect H107Y CA2base_CA2_DNA:g.10763C>T mutType missense CA2base_CA2_DNA:g.12842delA protEffect K169X197 CA2base_CA2_DNA:g.12842delA mutType frameshift CA2base_CA2_DNA:g.14131_14132insGT protEffect D179X198 CA2base_CA2_DNA:g.14131_14132insGT mutType frameshift CA2base_CA2_DNA:g.14217delC protEffect T207X223 CA2base_CA2_DNA:g.14217delC mutType frameshift CA2base_CA2_DNA:g.14216delC protEffect T207X223 CA2base_CA2_DNA:g.14216delC mutType frameshift CA2base_CA2_DNA:g.14226_14237delinsCACA protEffect V210X224 CA2base_CA2_DNA:g.14226_14237delinsCACA mutType frameshift CA2base_CA2_DNA:g.17669delA protEffect K227X239 CA2base_CA2_DNA:g.17669delA mutType frameshift CA2base_CA2_DNA:g.17686_17687delGG protEffect G232X234 CA2base_CA2_DNA:g.17686_17687delGG mutType frameshift CA2base_CA2_DNA:g.17743delG protEffect K251X265 CA2base_CA2_DNA:g.17743delG mutType frameshift ARdb_2 phenoCommon CAIS ARdb_2 protEffect AR:p.(Pro42fs) ARdb_3 phenoCommon Prostate cancer ARdb_3 protEffect AR:p.(Leu54Ser) ARdb_5 phenoCommon Prostate cancer ARdb_5 protEffect AR:p.(Leu57Gln) ARdb_8 phenoCommon CAIS ARdb_8 protEffect AR:p.(Gln60*) ARdb_9 phenoCommon Prostate cancer ARdb_9 protEffect AR:p.(Gln64Arg) ARdb_10 phenoCommon Prostate cancer ARdb_10 protEffect AR:p.(Gln114His) ARdb_11 phenoCommon CAIS ARdb_11 protEffect AR:p.(Arg129fs) ARdb_13 phenoCommon CAIS ARdb_13 protEffect AR:p.(Leu174*) ARdb_14 phenoCommon Prostate cancer ARdb_14 protEffect AR:p.(Lys182Arg) ARdb_15 phenoCommon CAIS ARdb_15 protEffect AR:p(Glu204fs) ARdb_16 phenoCommon CAIS ARdb_16 protEffect AR:p.(Ala217fs) ARdb_17 phenoCommon Prostate cancer ARdb_17 protEffect AR:p.(Met268Thr) ARdb_18 phenoCommon Prostate cancer ARdb_18 protEffect AR:p.(Pro271Ser) ARdb_19 phenoCommon CAIS ARdb_19 protEffect AR:p.(Asp266fs) ARdb_20 phenoCommon CAIS ARdb_20 protEffect AR:p.(Glu355*) ARdb_21 phenoCommon CAIS ARdb_21 protEffect AR:p.(Gly373*) ARdb_22 phenoCommon CAIS ARdb_22 protEffect AR:p.(Pro392Arg) ARdb_24 phenoCommon CAIS ARdb_24 protEffect AR:p.(Tyr481*) ARdb_25 phenoCommon CAIS ARdb_25 protEffect AR:p.(Trp503*) ARdb_26 phenoCommon Prostate cancer ARdb_26 protEffect AR:p.(Asp529Gly) ARdb_27 phenoCommon CAIS ARdb_27 protEffect AR:p.(Tyr535*) ARdb_32 phenoCommon PAIS ARdb_32 protEffect AR:p.(Leu548Phe) ARdb_33 phenoCommon MAIS ARdb_33 protEffect AR:p.(Pro549Ser) ARdb_34 phenoCommon CAIS ARdb_34 protEffect AR:p.(Cys560Tyr) ARdb_35 phenoCommon PAIS ARdb_35 protEffect AR:p.(Gly569Trp) ARdb_36 phenoCommon PAIS ARdb_36 protEffect AR:p.(Gly569Val) ARdb_38 phenoCommon CAIS ARdb_38 protEffect AR:p.(Ala574Asp) ARdb_39 phenoCommon CAIS ARdb_39 protEffect AR:p.(Cys577Arg) ARdb_40 phenoCommon CAIS ARdb_40 protEffect AR:p.(Cys577Phe) ARdb_41 phenoCommon CAIS ARdb_41 protEffect AR:p.(Cys580Tyr) ARdb_42 phenoCommon CAIS ARdb_42 protEffect AR:p.(Cys580Phe) ARdb_43 phenoCommon CAIS ARdb_43 protEffect AR:p.(Cys580fs) ARdb_44 phenoCommon CAIS ARdb_44 protEffect AR:p.(Val582Phe) ARdb_45 phenoCommon CAIS ARdb_45 protEffect AR:p.(Phe584del) ARdb_46 phenoCommon PAIS ARdb_46 protEffect AR:p.(Phe583Tyr) ARdb_47 phenoCommon PAIS ARdb_47 protEffect AR:p.(Phe583Ser) ARdb_48 phenoCommon CAIS ARdb_48 protEffect AR:p.(Arg586Lys) ARdb_52 phenoCommon CAIS ARdb_52 protEffect AR:p.(Lys591*) ARdb_53 phenoCommon PAIS ARdb_53 protEffect AR:p.(Ala597Thr) ARdb_54 phenoCommon PAIS ARdb_54 protEffect AR:p.(Ser598Gly) ARdb_55 phenoCommon CAIS ARdb_55 protEffect AR:p.(Cys602Phe) ARdb_56 phenoCommon PAIS ARdb_56 protEffect AR:p.(Asp605Tyr) ARdb_57 phenoCommon CAIS ARdb_57 protEffect AR:p.(Arg608*) ARdb_58 phenoCommon PAIS ARdb_58 phenoCommon Breast cancer ARdb_58 protEffect AR:p.(Arg608Gln) ARdb_61 phenoCommon PAIS ARdb_61 protEffect AR:p.(Arg609Lys) ARdb_61 phenoCommon Breast cancer ARdb_63 phenoCommon PAIS ARdb_63 protEffect AR:p.(Asn611Thr) ARdb_64 phenoCommon CAIS ARdb_64 protEffect AR:p.(Arg616del) ARdb_65 phenoCommon CAIS ARdb_65 protEffect AR:p.(Arg616His) ARdb_65 phenoCommon PAIS ARdb_65 phenoCommon MAIS ARdb_70 phenoCommon PAIS ARdb_70 protEffect AR:p.(Arg616Pro) ARdb_71 phenoCommon PAIS ARdb_71 protEffect AR:p.(Leu 617Arg) ARdb_72 phenoCommon CAIS ARdb_72 protEffect AR:p.(Leu617Pro) ARdb_74 phenoCommon PAIS ARdb_74 protEffect AR:p.(Arg618Pro) ARdb_78 phenoCommon CAIS ARdb_78 protEffect AR:p.(Leu708fs) ARdb_79 phenoCommon Prostate cancer ARdb_79 protEffect AR:p.(Lys631Thr) ARdb_80 phenoCommon PAIS ARdb_80 protEffect AR:p.(Ala646Asp) ARdb_81 phenoCommon Prostate cancer ARdb_81 protEffect AR:p.(Ser648Asn) ARdb_82 phenoCommon PAIS ARdb_82 protEffect AR:p.(Ile665Asn) ARdb_83 phenoCommon Prostate cancer ARdb_83 protEffect AR:p.(Gln671Arg) ARdb_84 phenoCommon PAIS ARdb_84 protEffect AR:p.(Pro672His) ARdb_85 phenoCommon Prostate cancer ARdb_85 protEffect AR:p.(Ile673Thr) ARdb_86 phenoCommon CAIS ARdb_86 protEffect AR:p.(Leu678Pro) ARdb_87 phenoCommon CAIS ARdb_87 protEffect AR:p.(Glu682Lys) ARdb_89 phenoCommon Prostate cancer ARdb_89 protEffect AR:p.(Gly684Ala) ARdb_90 phenoCommon CAIS ARdb_90 protEffect AR:p.(Val685Ile) ARdb_91 phenoCommon PAIS ARdb_91 protEffect AR:p.(Cys687Arg) ARdb_92 phenoCommon PAIS ARdb_92 protEffect AR:p.(Ala688Val) ARdb_93 phenoCommon CAIS ARdb_93 protEffect AR:p.(Gly689Glu) ARdb_94 phenoCommon PAIS ARdb_94 protEffect AR:p.(Asp691del) ARdb_95 phenoCommon CAIS ARdb_95 protEffect AR:p.(Asn693del) ARdb_96 phenoCommon CAIS ARdb_96 protEffect AR:p.(Asp696His) ARdb_97 phenoCommon CAIS ARdb_97 protEffect AR:p.(Asp696Asn) ARdb_97 phenoCommon PAIS ARdb_99 phenoCommon Prostate cancer ARdb_99 protEffect AR:p.(Leu702His) ARdb_100 phenoCommon CAIS ARdb_100 protEffect AR:p.(Ser703Ala) ARdb_101 phenoCommon PAIS ARdb_101 protEffect AR:p.(Ser704Gly) ARdb_102 phenoCommon CAIS ARdb_102 protEffect AR:p.(Asn706Ser) ARdb_105 phenoCommon CAIS ARdb_105 protEffect AR:p.(Leu708Arg) ARdb_106 phenoCommon PAIS ARdb_106 protEffect AR:p.(Gly709Ala) ARdb_107 phenoCommon PAIS ARdb_107 protEffect AR:p.(Gly709Val) ARdb_108 phenoCommon PAIS ARdb_108 protEffect AR:p.(Leu713Phe) ARdb_109 phenoCommon Prostate cancer ARdb_109 protEffect AR:p.(Val716Met) ARdb_111 phenoCommon CAIS ARdb_111 protEffect AR:p.(Trp719*) ARdb_112 phenoCommon Prostate cancer ARdb_112 protEffect AR:p.(Lys721Glu) ARdb_113 phenoCommon Prostate cancer ARdb_113 protEffect AR:p.(Ala722Thr) ARdb_114 phenoCommon CAIS ARdb_114 protEffect AR:p.(Leu723Phe) ARdb_118 phenoCommon PAIS ARdb_118 protEffect AR:p.(Phe726Leu) ARdb_119 phenoCommon Prostate cancer ARdb_119 protEffect AR:p.(Arg727Leu) ARdb_120 phenoCommon MAIS ARdb_120 protEffect AR:p.(Asn728Lys) ARdb_121 phenoCommon PAIS ARdb_121 protEffect AR:p.(Leu729Ser) ARdb_122 phenoCommon Prostate cancer ARdb_122 protEffect AR:p.(Val731Met) ARdb_124 phenoCommon CAIS ARdb_124 protEffect AR:p.(Asp733Asn) ARdb_125 phenoCommon CAIS ARdb_125 protEffect AR:p.(Asp733Tyr) ARdb_128 phenoCommon PAIS ARdb_128 protEffect AR:p.(Gln734His) ARdb_129 phenoCommon PAIS ARdb_129 protEffect AR:p.(Ile738Thr) ARdb_130 phenoCommon CAIS ARdb_130 protEffect AR:p.(Trp742Arg) ARdb_131 phenoCommon PAIS ARdb_131 protEffect AR:p.(Met743Val) ARdb_132 phenoCommon PAIS ARdb_132 protEffect AR:p.(Met743Ile) ARdb_133 phenoCommon PAIS ARdb_133 protEffect AR:p.(Gly744Val) ARdb_135 phenoCommon CAIS ARdb_135 protEffect AR:p.(Leu745Phe) ARdb_136 phenoCommon PAIS ARdb_136 protEffect AR:p.(Met746Thr) ARdb_137 phenoCommon PAIS ARdb_137 protEffect AR:p.(Val747Met) ARdb_139 phenoCommon PAIS ARdb_139 protEffect AR:p.(Ala749Asp) ARdb_140 phenoCommon CAIS ARdb_140 protEffect AR:p.(Met750Val) ARdb_142 phenoCommon CAIS ARdb_142 protEffect AR:p.(Gly751Asp) ARdb_144 phenoCommon CAIS ARdb_144 protEffect AR:p.(Trp752Arg) ARdb_145 phenoCommon CAIS ARdb_145 protEffect AR:p.(Arg753*) ARdb_147 phenoCommon CAIS ARdb_147 protEffect AR:p.(Arg753Gln) ARdb_149 phenoCommon CAIS ARdb_149 protEffect AR:p.(Phe755Val) ARdb_151 phenoCommon PAIS ARdb_151 protEffect AR:p.(Phe755Leu) ARdb_153 phenoCommon PAIS ARdb_153 protEffect AR:p.(Asn757Ser) ARdb_154 phenoCommon CAIS ARdb_154 protEffect AR:p.(Ser760Phe) ARdb_155 phenoCommon CAIS ARdb_155 protEffect AR:p.(Leu763Phe) ARdb_157 phenoCommon CAIS ARdb_157 protEffect AR:p.(Tyr764His) ARdb_158 phenoCommon PAIS ARdb_158 protEffect AR:p.(Tyr764Cys) ARdb_161 phenoCommon CAIS ARdb_161 protEffect AR:p.(Phe765Leu) ARdb_162 phenoCommon CAIS ARdb_162 protEffect AR:p.(Phe765Leu) ARdb_163 phenoCommon CAIS ARdb_163 protEffect AR:p.(Ala766Thr) ARdb_167 phenoCommon CAIS ARdb_167 protEffect AR:p.(Ala766Val) ARdb_168 phenoCommon CAIS ARdb_168 protEffect AR:p.(Pro767Ser) ARdb_169 phenoCommon CAIS ARdb_169 protEffect AR:p.(Pro767fs) ARdb_170 phenoCommon CAIS ARdb_170 protEffect AR:p.(Asp768Glu) ARdb_171 phenoCommon PAIS ARdb_171 protEffect AR:p.(Asn772His) ARdb_172 phenoCommon CAIS ARdb_172 protEffect AR:p.(Glu773*) ARdb_173 phenoCommon PAIS ARdb_173 protEffect AR:p.(Glu773Gly) ARdb_174 phenoCommon PAIS ARdb_174 protEffect AR:p.(Glu773Ala) ARdb_175 phenoCommon CAIS ARdb_175 protEffect AR:p.(Arg775Cys) ARdb_181 phenoCommon CAIS ARdb_181 protEffect AR:p.(Arg775His) ARdb_181 phenoCommon PAIS ARdb_186 phenoCommon CAIS ARdb_186 protEffect AR:p.(Arg780Trp) ARdb_189 phenoCommon PAIS ARdb_189 protEffect AR:p.(Met781Ile) ARdb_189 phenoCommon CAIS ARdb_194 phenoCommon Prostate cancer ARdb_194 protEffect AR:p.(Ser783Asn) ARdb_195 phenoCommon CAIS ARdb_195 protEffect AR:p.(Arg787*) ARdb_196 phenoCommon CAIS ARdb_196 protEffect AR:p.(Met788Val) ARdb_197 phenoCommon MAIS ARdb_197 protEffect AR:p.(Leu791Phe) ARdb_198 phenoCommon MAIS ARdb_198 protEffect AR:p.(Glu794Asp) ARdb_199 phenoCommon CAIS ARdb_199 protEffect AR:p.(Phe795Ser) ARdb_201 phenoCommon CAIS ARdb_201 protEffect AR:p.(Trp797*) ARdb_202 phenoCommon PAIS ARdb_202 protEffect AR:p.(Gln799Glu) ARdb_202 phenoCommon Prostate cancer ARdb_206 phenoCommon PAIS ARdb_206 protEffect AR:p.(Cys807Tyr) ARdb_207 phenoCommon CAIS ARdb_207 protEffect AR:p.(Met808Val) ARdb_208 phenoCommon CAIS ARdb_208 protEffect AR:p.(Met808Arg) ARdb_209 phenoCommon PAIS ARdb_209 protEffect AR:p.(Ser815Asn) ARdb_209 phenoCommon MAIS ARdb_211 phenoCommon CAIS ARdb_211 protEffect AR:p.(Gly821Ala) ARdb_212 phenoCommon PAIS ARdb_212 protEffect AR:p.(Leu822Val) ARdb_219 phenoCommon CAIS ARdb_219 protEffect AR:p.(Tyr835Cys) ARdb_220 phenoCommon PAIS ARdb_220 protEffect AR:p.(Arg841Cys) ARdb_223 phenoCommon PAIS ARdb_223 protEffect AR:p.(Arg841His) ARdb_233 phenoCommon PAIS ARdb_233 protEffect AR:p.(Ile842Ser) ARdb_234 phenoCommon CAIS ARdb_234 protEffect AR:p.(Ile843Thr) ARdb_234 phenoCommon PAIS ARdb_236 phenoCommon CAIS ARdb_236 protEffect AR:p.(Asn849fs) ARdb_237 phenoCommon CAIS ARdb_237 protEffect AR:p.(Ser854*) ARdb_239 phenoCommon PAIS ARdb_239 protEffect AR:p.(Arg855Lys) ARdb_240 phenoCommon CAIS ARdb_240 protEffect AR:p.(Arg856Cys) ARdb_249 phenoCommon CAIS ARdb_249 protEffect AR:p.(Arg856His) ARdb_249 phenoCommon PAIS ARdb_256 phenoCommon CAIS ARdb_256 protEffect AR:p.(Leu864Arg ARdb_257 phenoCommon CAIS ARdb_257 protEffect AR:p.(Asp865Asn) ARdb_258 phenoCommon CAIS ARdb_258 protEffect AR:p.(Asp865Gly) ARdb_259 phenoCommon PAIS ARdb_259 protEffect AR:p.(Val867Leu) ARdb_263 phenoCommon CAIS ARdb_263 protEffect AR:p.(Val867Met) ARdb_263 phenoCommon PAIS ARdb_268 phenoCommon CAIS ARdb_268 protEffect AR:p.(Val867Glu) ARdb_269 phenoCommon PAIS ARdb_269 protEffect AR:p.(Ile870Met) ARdb_270 phenoCommon PAIS ARdb_270 protEffect AR:p.(Ala871Val) ARdb_271 phenoCommon PAIS ARdb_271 protEffect AR:p.(Ala871Gly) ARdb_272 phenoCommon MAIS ARdb_272 protEffect AR:p.(Arg872Gly) ARdb_273 phenoCommon Prostate cancer ARdb_273 protEffect AR:p.(His875Tyr) ARdb_275 phenoCommon LNCaP cell line ARdb_275 protEffect AR:p.(Thr878Ala) ARdb_275 phenoCommon Prostate cancer ARdb_280 phenoCommon Prostate cancer ARdb_280 protEffect AR:p.(Thr878Ser) ARdb_281 phenoCommon CAIS ARdb_281 protEffect AR:p.(Leu882Val) ARdb_282 phenoCommon CAIS ARdb_282 protEffect AR:p.(Lys884*) ARdb_283 phenoCommon MAIS ARdb_283 protEffect AR:p.(Met887Val) ARdb_284 phenoCommon CAIS ARdb_284 protEffect AR:p.(Val890Met) ARdb_284 phenoCommon PAIS ARdb_286 phenoCommon CAIS ARdb_286 protEffect AR:p.(Ile899Thr) ARdb_287 phenoCommon Prostate cancer ARdb_287 protEffect AR:p.(Gln903Arg) ARdb_288 phenoCommon PAIS ARdb_288 protEffect AR:p.(Val904Met) ARdb_289 phenoCommon CAIS ARdb_289 protEffect AR:p.(Pro905Ser) ARdb_290 phenoCommon CAIS ARdb_290 protEffect AR:p.(Pro905His) ARdb_291 phenoCommon CAIS ARdb_291 protEffect AR:p.(Leu908Phe) ARdb_292 phenoCommon PAIS ARdb_292 protEffect AR:p.(Gly910Arg) ARdb_293 phenoCommon PAIS ARdb_293 protEffect AR:p.(Pro914Ser) ARdb_294 phenoCommon CAIS ARdb_295 phenoCommon CAIS ARdb_296 phenoCommon CAIS ARdb_298 phenoCommon CAIS ARdb_299 phenoCommon PAIS ARdb_300 phenoCommon Prostate cancer ARdb_300 protEffect AR:p.(Val758Ala) ARdb_304 phenoCommon CAIS ARdb_306 phenoCommon Prostate cancer ARdb_306 protEffect AR:p.(Arg630Gln) ARdb_13 phenoCommon PAIS ARdb_319 phenoCommon CAIS ARdb_319 protEffect AR:p.(Gln196Arg) ARdb_327 phenoCommon Prostate cancer ARdb_327 protEffect AR:p.(Lys911Arg) ARdb_328 phenoCommon Normal ARdb_328 phenoOfficial no phenotype detected [MP:0002169] ARdb_328 protEffect AR:p.(Glu213) ARdb_80 phenoCommon Normal ARdb_80 phenoOfficial no phenotype detected [MP:0002169] ARdb_335 phenoCommon CAIS ARdb_335 protEffect AR:p.(Asp696Val) ARdb_338 phenoCommon MAIS ARdb_338 protEffect AR:p.(Pro392Ser) ARdb_339 phenoCommon MAIS ARdb_339 protEffect AR:p.(Val512Val) ARdb_202 phenoCommon MAIS ARdb_346 phenoCommon PAIS ARdb_346 protEffect AR:p.(Asn759Thr) ARdb_350 phenoCommon CAIS ARdb_350 protEffect AR:p.(Leu263Pro) ARdb_357 phenoCommon Prostate cancer ARdb_357 protEffect AR:p.(Leu547fs) ARdb_358 phenoCommon Prostate cancer ARdb_358 protEffect AR:p.(Pro555fs) ARdb_360 phenoCommon Prostate cancer ARdb_360 protEffect AR:p.(Trp742*) ARdb_361 phenoCommon Prostate cancer ARdb_361 protEffect AR:p.(Gly744fs) ARdb_362 phenoCommon PAIS ARdb_362 protEffect AR:p.(Thr603Pro) ARdb_135 phenoCommon Prostate cancer ARdb_363 phenoCommon Prostate cancer ARdb_363 protEffect AR:p.(Ala749Val) ARdb_364 phenoCommon Prostate cancer ARdb_364 protEffect AR:p.(Met750Ile) ARdb_365 phenoCommon Prostate cancer ARdb_365 protEffect AR:p.(Gly751Ser) ARdb_366 phenoCommon Prostate cancer ARdb_366 protEffect AR:p.(Trp752*) ARdb_368 phenoCommon Prostate cancer ARdb_368 protEffect AR:p.(Trp752*) ARdb_369 phenoCommon Prostate cancer ARdb_369 protEffect AR:p.(Phe755Leu) ARdb_370 phenoCommon Prostate cancer ARdb_370 protEffect AR:p.(Thr756Ala) ARdb_371 phenoCommon Prostate cancer ARdb_371 protEffect AR:p.(Ser760Pro) ARdb_158 phenoCommon Prostate cancer ARdb_263 phenoCommon Prostate cancer ARdb_374 phenoCommon Prostate cancer ARdb_374 protEffect AR:p.(Gly910Glu) ARdb_375 phenoCommon CAIS ARdb_375 protEffect AR:p.(Pro893Leu) ARdb_376 phenoCommon MAIS ARdb_376 protEffect AR:p.(Arg212Arg) ARdb_328 phenoCommon MAIS ARdb_379 phenoCommon MAIS ARdb_379 protEffect AR:p.(Gly216Arg) ARdb_379 phenoCommon Normal ARdb_379 phenoOfficial no phenotype detected [MP:0002169] ARdb_383 phenoCommon CAIS ARdb_383 protEffect AR:p.(Cys785Tyr) ARdb_385 phenoCommon PAIS ARdb_385 protEffect AR:p.(Arg841Gly) ARdb_386 phenoCommon CAIS ARdb_386 protEffect AR:p.(Met896Thr) ARdb_389 phenoCommon CAIS ARdb_389 protEffect AR:p.(Pro893Ser) ARdb_390 phenoCommon PAIS ARdb_390 protEffect AR:p.(Ser598Thr) ARdb_392 phenoCommon PAIS ARdb_392 protEffect AR:p.(Leu839) ARdb_395 phenoCommon Normal ARdb_395 phenoOfficial no phenotype detected [MP:0002169] ARdb_395 protEffect AR:p.(Ser207Arg) ARdb_198 phenoCommon Normal ARdb_198 phenoOfficial no phenotype detected [MP:0002169] ARdb_398 phenoCommon Prostate cancer ARdb_398 protEffect AR:p.(Pro342Leu) ARdb_400 phenoCommon CAIS ARdb_400 protEffect AR:p.(Gln641*) ARdb_368 phenoCommon CAIS ARdb_403 phenoCommon PAIS ARdb_403 protEffect AR:p.(Leu813Phe) ARdb_406 phenoCommon MAIS ARdb_406 protEffect AR:p.(Arg789Ser) ARdb_99 phenoCommon MDA PCa-Za ARdb_409 phenoCommon CAIS ARdb_409 protEffect AR:p.(Gln60fs) ARdb_410 phenoCommon CAIS ARdb_410 protEffect AR:p.(Glu474fs) ARdb_133 phenoCommon CAIS ARdb_415 phenoCommon PAIS ARdb_415 protEffect AR:p.(Arg841Ser) ARdb_416 phenoCommon CAIS ARdb_416 protEffect AR:p.(Gln87fs) ARdb_417 phenoCommon CAIS ARdb_417 protEffect AR:p.(Pro104fs) ARdb_417_2 phenoCommon CAIS ARdb_417_2 protEffect AR:p.(Pro127fs) ARdb_418 phenoCommon CAIS ARdb_418 protEffect AR:p.(Gln115*) ARdb_328 phenoCommon CAIS ARdb_328 phenoCommon PAIS ARdb_428 phenoCommon PAIS ARdb_428 protEffect AR:p.(Met808Thr) ARdb_430 phenoCommon PAIS ARdb_430 protEffect AR:p.(Val912Leu) ARdb_431 phenoCommon Prostate cancer ARdb_431 protEffect AR:p.(Cys620Tyr) ARdb_433 phenoCommon Prostate cancer ARdb_433 protEffect AR:p.(Asp891Asn) ARdb_438 phenoCommon CAIS ARdb_438 protEffect AR:p.(Gly463fs) ARdb_440 phenoCommon CAIS ARdb_440 protEffect AR:p.(Gly492Ser) ARdb_70 phenoCommon CAIS ARdb_446 phenoCommon CAIS ARdb_446 protEffect AR:p.(Gly689*) ARdb_447 phenoCommon CAIS ARdb_447 protEffect AR:p.(Leu701Met) ARdb_101 phenoCommon CAIS ARdb_450 phenoCommon CAIS ARdb_450 protEffect AR:p.(Arg711Thr) ARdb_451 phenoCommon CAIS ARdb_451 protEffect AR:p.(Pro724Ser) ARdb_452 phenoCommon CAIS ARdb_452 protEffect AR:p.(Gly725Ser) ARdb_453 phenoCommon CAIS ARdb_453 protEffect AR:p.(Gly725Asp) ARdb_460 phenoCommon CAIS ARdb_460 protEffect AR:p.(Leu769Pro) ARdb_470 phenoCommon CAIS ARdb_470 protEffect AR:p.(Phe857Leu) ARdb_102 phenoCommon PAIS ARdb_483 phenoCommon PAIS ARdb_483 protEffect AR:p.(Met750Val ARdb_486 phenoCommon CAIS ARdb_486 protEffect AR:p.(Ser866Pro) ARdb_487 phenoCommon Prostate cancer ARdb_487 protEffect AR:p.(Lys581Arg) ARdb_488 phenoCommon Prostate cancer ARdb_488 protEffect AR:p.(Ala587Val) ARdb_489 phenoCommon Prostate cancer ARdb_489 protEffect AR:p.(Thr576Ala) ARdb_490 phenoCommon Prostate cancer ARdb_490 protEffect AR:p.(Ala588Ser) ARdb_492 phenoCommon Prostate cancer ARdb_492 protEffect AR:p.(Ala749Thr) ARdb_494 phenoCommon Prostate cancer ARdb_494 protEffect AR:p.(Arg847Gly) ARdb_496 phenoCommon CAIS ARdb_496 protEffect AR:p.(Cys612Tyr) ARdb_498 phenoCommon CAIS ARdb_498 protEffect AR:p.(Glu804Lys) ARdb_501 phenoCommon CAIS ARdb_501 protEffect AR:p.(Asp820Gln) ARdb_502 phenoCommon CAIS ARdb_503 phenoCommon PAIS ARdb_512 phenoCommon CAIS ARdb_512 protEffect AR:p.(Arg616Gly) ARdb_513 phenoCommon MAIS ARdb_513 protEffect AR:p.(Gln825Lys) ARdb_516 phenoCommon CAIS ARdb_516 protEffect AR:p.(Glu155*) ARdb_517 phenoCommon CAIS ARdb_517 protEffect AR:p.(Gln658*) ARdb_518 phenoCommon PAIS ARdb_518 protEffect AR:p.(Leu702Ile) ARdb_519 phenoCommon CAIS ARdb_519 protEffect AR:p.(Gly744Arg) ARdb_520 phenoCommon PAIS ARdb_520 protEffect AR:p.(Ala766Ser) ARdb_521 phenoCommon PAIS ARdb_521 protEffect AR:p.(Gln803Arg) ARdb_525 phenoCommon PAIS ARdb_525 protEffect AR:p.(Gln712Glu) ARdb_530 phenoCommon CAIS ARdb_530 protEffect AR:p.(Tyr740Asp) ARdb_153 phenoCommon MAIS ARdb_533 phenoCommon PAIS ARdb_533 protEffect AR:p.(Ser889) ARdb_534 phenoCommon PAIS ARdb_534 protEffect AR:p.(Pro683Thr) ARdb_536 phenoCommon CAIS ARdb_536 protEffect AR:p.(Gly744Glu) ARdb_537 phenoCommon CAIS ARdb_537 protEffect AR:p.(Phe828Val) ARdb_538 phenoCommon CAIS ARdb_538 protEffect AR:p.(His875Arg) ARdb_539 phenoCommon PAIS ARdb_539 protEffect AR:p.(Asp880Tyr) ARdb_541 phenoCommon CAIS ARdb_542 phenoCommon CAIS ARdb_542 protEffect AR:p.(Thr801fs) ARdb_543 phenoCommon CAIS ARdb_543 protEffect AR:p.(Pro767Ala) ARdb_544 phenoCommon PAIS ARdb_544 protEffect AR:p.(Leu 769Met) ARdb_545 phenoCommon PAIS ARdb_545 protEffect AR:p.(Tyr572His) ARdb_547 phenoCommon Prostate cancer ARdb_547 protEffect AR:p.(Pro392Leu) ARdb_548 phenoCommon Prostate cancer ARdb_548 protEffect AR:p.(Asn224Asp) ARdb_549 phenoCommon Prostate cancer ARdb_549 protEffect AR:p.(Glu204Glu) ARdb_550 phenoCommon Prostate cancer ARdb_550 protEffect AR:p.(Ser336Pro) ARdb_551 phenoCommon Prostate cancer ARdb_551 protEffect AR:p.(Glu200Gly) ARdb_552 phenoCommon Prostate cancer ARdb_552 protEffect AR:p.(Trp742Cys) ARdb_553 phenoCommon Prostate cancer ARdb_553 protEffect AR:p.(Asp880Gly) ARdb_554 phenoCommon PAIS ARdb_554 protEffect AR:p.(Gly578Arg) ARdb_555 phenoCommon PAIS ARdb_555 protEffect AR:p.(Glu654Lys) ARdb_556 phenoCommon Prostate cancer ARdb_556 protEffect AR:p.(Ser298Arg) ARdb_559 phenoCommon CAIS ARdb_559 protEffect AR:p.(Asn706Tyr) ARdb_271 phenoCommon MAIS ARdb_563 phenoCommon CAIS ARdb_563 protEffect AR:p.(Phe805Leu) ARdb_566 phenoCommon Prostate cancer ARdb_566 protEffect AR:p.(Ser178) ARdb_567 phenoCommon Prostate cancer ARdb_567 protEffect AR:p.(Pro515Ser) ARdb_569 phenoCommon Prostate cancer ARdb_569 protEffect AR:p.(Gly525Asp) ARdb_570 phenoCommon Prostate cancer ARdb_570 protEffect AR:p.(Pro534Ser) ARdb_572 phenoCommon Prostate cancer ARdb_572 protEffect AR:p.(Gly744) ARdb_573 phenoCommon Prostate cancer ARdb_573 protEffect AR:p.(Val758Ile) ARdb_575 phenoCommon CAIS ARdb_575 protEffect AR:p.(His690Pro) ARdb_576 phenoCommon Prostate cancer ARdb_576 protEffect AR:p.(Thr650Thr) ARdb_577 phenoCommon Prostate cancer ARdb_577 protEffect AR:p.(Glu710Glu) ARdb_578 phenoCommon Prostate cancer ARdb_578 protEffect AR:p.(Gln712Gln) ARdb_581 phenoCommon CAIS ARdb_581 protEffect AR:p.(Asn706Ile) ARdb_583 phenoCommon CAIS ARdb_583 protEffect AR:p.(Ala722fs) ARdb_584 phenoCommon CAIS ARdb_584 protEffect AR:p.(Ala722fs) ARdb_163 phenoCommon PAIS ARdb_587 phenoCommon CAIS ARdb_587 protEffect AR:p.(Pro767fs) ARdb_591 phenoCommon CAIS ARdb_591 protEffect AR:p.(Ile843Asn) ARdb_593 phenoCommon PAIS ARdb_593 protEffect AR:p.(Ser889Lys) ARdb_594 phenoCommon CAIS ARdb_595 phenoCommon CAIS ARdb_595 protEffect AR:p.(Trp742Leu) ARdb_596 phenoCommon PAIS ARdb_596 protEffect AR:p.(Thr801Ile) ARdb_602 phenoCommon Prostate cancer ARdb_602 protEffect AR:p.(Asn757Asp) ARdb_606 phenoCommon CAIS ARdb_606 protEffect AR:p.(Glu289*) ARdb_609 phenoCommon PAIS ARdb_609 protEffect AR:p.(Ser598Arg) ARdb_609 phenoCommon Normal ARdb_609 phenoOfficial no phenotype detected [MP:0002169] ARdb_612 protEffect AR:p.(Gln58Leu) ARdb_400 phenoCommon Prostate cancer ARdb_616 phenoCommon PAIS ARdb_616 protEffect AR:p.(Ser741Cys) ARdb_80 phenoCommon CAIS ARdb_618 phenoCommon CAIS ARdb_618 protEffect AR:p.(Glu682*) ARdb_620 phenoCommon CAIS ARdb_620 protEffect AR:p.(Gly725Ala) ARdb_622 phenoCommon CAIS ARdb_622 protEffect AR:p.(Glu830fs) ARdb_623 phenoCommon CAIS ARdb_623 protEffect AR:p.(Ser885*) ARdb_624 phenoCommon CAIS ARdb_624 protEffect AR:p.(Pro39del) ARdb_627 phenoCommon Prostate cancer ARdb_627 protEffect AR:p.(Gly168Ser) ARdb_628 phenoCommon Prostate cancer ARdb_628 protEffect AR:p.(Asp733Asp) ARdb_631 phenoCommon CAIS ARdb_631 protEffect AR:p.(Ser121*) ARdb_635 phenoCommon PAIS ARdb_635 protEffect AR:p.(Trp742Cys) ARdb_637 phenoCommon CAIS ARdb_637 protEffect AR:p.(Leu769Val) ARdb_642 phenoCommon PAIS ARdb_642 protEffect AR:p.(Ile899Phe) ARdb_646 phenoCommon CAIS ARdb_646 protEffect AR:p.(Pro905Val) ARdb_648 phenoCommon CAIS ARdb_648 protEffect AR:p.(Gln799*) ARdb_649 phenoCommon PAIS ARdb_649 protEffect AR:p.(Gln903Lys) ARdb_650 phenoCommon CAIS ARdb_650 protEffect AR:p.(Tyr225*) ARdb_368 phenoCommon PAIS ARdb_168 phenoCommon PAIS ARdb_666 phenoCommon CAIS ARdb_666 protEffect AR:p.(Phe771*) ARdb_667 phenoCommon CAIS ARdb_667 protEffect AR:p.(Val786fs) ARdb_672 phenoCommon CAIS ARdb_672 protEffect AR:p(.Gln90*) ARdb_223 phenoCommon CAIS ARdb_685 phenoCommon PAIS ARdb_685 protEffect AR:p.(Pro818Ala) ARdb_119 phenoCommon Normal ARdb_119 phenoOfficial no phenotype detected [MP:0002169] ARdb_689 phenoCommon PAIS ARdb_689 protEffect AR:p.(Leu411_Ser413del) ARdb_690 phenoCommon PAIS ARdb_690 protEffect AR:p.(Ser413Asn) ARdb_691 phenoCommon PAIS ARdb_691 protEffect AR:p.(Ser434Phe) ARdb_694 phenoCommon Prostate cancer ARdb_694 protEffect AR:p.(Gly144Val) ARdb_695 phenoCommon Prostate cancer ARdb_695 protEffect AR:p.(Asp223His) ARdb_696 phenoCommon Prostate cancer ARdb_696 protEffect AR:p.(Glu873Gln) ARdb_697 phenoCommon Prostate cancer ARdb_697 protEffect AR:p.(Met887Ile) ARdb_95 phenoCommon PAIS ARdb_706 phenoCommon PAIS ARdb_706 protEffect AR:p.(Ser233Leu) ARdb_379 phenoCommon PAIS ARdb_711 phenoCommon PAIS ARdb_711 protEffect AR:p.(Arg630Trp) ARdb_406 phenoCommon PAIS ARdb_719 phenoCommon PAIS ARdb_719 protEffect AR:p.(Val582Leu) ARdb_720 phenoCommon CAIS ARdb_720 protEffect AR:p.(Asn600fs) ARdb_721 phenoCommon CAIS ARdb_721 protEffect AR:p.(Asn611fs) ARdb_723 phenoCommon CAIS ARdb_723 protEffect AR:p.(Ile681Thr) ARdb_724 phenoCommon CAIS ARdb_724 protEffect AR:p.(Pro683Ala) ARdb_725 phenoCommon CAIS ARdb_725 protEffect AR:p.(Leu701fs) ARdb_726 phenoCommon CAIS ARdb_726 protEffect AR:p.(Ile738Phe) ARdb_136 phenoCommon CAIS ARdb_729 phenoCommon PAIS ARdb_729 protEffect AR:p.(Met762Thr) ARdb_735 phenoCommon CAIS ARdb_735 protEffect AR:p.(Arg789dup) ARdb_736 phenoCommon PAIS ARdb_736 protEffect AR:p.(Ala844Glu) ARdb_751 phenoCommon CAIS ARdb_751 protEffect AR:p.(Leu7fs) ARdb_752 phenoCommon CAIS ARdb_752 protEffect AR:p.(Gln734*) ARdb_753 phenoCommon CAIS ARdb_753 protEffect AR:p.(Leu860Phe) ARdb_754 phenoCommon PAIS ARdb_754 protEffect AR:p.(Glu2Lys) ARdb_755 phenoCommon CAIS ARdb_755 protEffect AR:p.(Met746Ile) ARdb_328 phenoCommon Prostate cancer ARdb_759 phenoCommon Prostate cancer ARdb_759 protEffect AR:p.(Gly451Asp) ARdb_760 phenoCommon Prostate cancer ARdb_760 protEffect AR:p.(Gly453Asp) ARdb_114 phenoCommon Prostate cancer ARdb_763 phenoCommon Prostate cancer ARdb_763 protEffect AR:p.(Phe748fs) ARdb_764 phenoCommon Prostate cancer ARdb_764 protEffect AR:p.(Ile800Thr) ARdb_392 phenoCommon Prostate cancer ARdb_766 phenoCommon Prostate cancer ARdb_766 protEffect AR:p.(Met896Val) ARdb_32 phenoCommon MAIS ARdb_545 phenoCommon MAIS ARdb_58 phenoCommon MAIS ARdb_80 phenoCommon MAIS ARdb_97 phenoCommon MAIS ARdb_189 phenoCommon MAIS ARdb_212 phenoCommon MAIS ARdb_249 phenoCommon MAIS ARdb_263 phenoCommon MAIS ARdb_398 phenoCommon MAIS ARdb_780 phenoCommon MAIS ARdb_780 protEffect AR:p.(Leu272Phe) ARdb_781 phenoCommon MAIS ARdb_781 protEffect AR:p.(Glu355Gln) ARdb_782 phenoCommon MAIS ARdb_782 protEffect AR:p.(Ala475Val) ARdb_784 phenoCommon MAIS ARdb_784 protEffect AR:p.(Ser651Gly) ARdb_785 phenoCommon MAIS ARdb_785 protEffect AR:p.(Phe748Ile) ARdb_787 protEffect AR:p.(Gln73*) ARdb_788 phenoCommon PAIS ARdb_788 protEffect AR:p.(Ala159Thr) ARdb_789 protEffect AR:p.(Gly248Val) ARdb_790 phenoCommon CAIS ARdb_790 protEffect AR:p.(Tyr395*) ARdb_791 protEffect AR:p.(Pro724Leu) ARdb_792 phenoCommon PAIS ARdb_792 protEffect AR:p.(Trp719Arg) ARdb_793 phenoCommon CAIS ARdb_793 protEffect AR:p.(Ser854) ARdb_795 phenoCommon CAIS ARdb_795 protEffect AR:p.(Met895del) ARdb_796 phenoCommon CAIS ARdb_796 protEffect AR:p.(Gln88*) ARdb_797 phenoCommon CAIS ARdb_797 protEffect AR:p.(Cys563Tyr) ARdb_798 phenoCommon CAIS ARdb_798 protEffect AR:p.(Gly725Val) ARdb_799 phenoCommon CAIS ARdb_799 protEffect AR:p.(Leu813Pro) ARdb_800 phenoCommon CAIS ARdb_802 phenoCommon CAIS ARdb_802 protEffect AR:p.(Gln120*) ARdb_283 phenoCommon Liver cancer ARdb_804 phenoCommon Liver cancer ARdb_804 protEffect AR:p.(Tyr481) ARdb_805 phenoCommon Liver cancer ARdb_805 protEffect AR:p.(Arg101His) ARdb_806 phenoCommon Liver cancer ARdb_806 protEffect AR:p.(Gln90His) ARdb_807 phenoCommon Liver cancer ARdb_807 protEffect AR:p.(Gln80) ARdb_5 phenoCommon Liver cancer ARdb_809 phenoCommon Prostate cancer ARdb_811 phenoCommon CAIS ARdb_811 protEffect AR:p.(Pro818Leu) ARdb_815 phenoCommon Testicular cancer ARdb_815 protEffect AR:p.(Leu57del) ARdb_816 phenoCommon Testicular cancer ARdb_816 protEffect AR:p.(Ala299Thr) ARdb_338 phenoCommon Testicular cancer ARdb_819 phenoCommon PAIS ARdb_819 protEffect AR:p.(Glu710Lys) ARdb_828 phenoCommon CAIS ARdb_828 protEffect AR:p.(Gln712fs) ARdb_829 phenoCommon CAIS ARdb_829 protEffect AR:p.(Leu882Pro) ARdb_835 phenoCommon PAIS ARdb_836 phenoCommon CAIS ARdb_836 protEffect AR:p.(Arg40fs) ARdb_837 phenoCommon CAIS ARdb_837 protEffect AR:p.(Lys143*) ARdb_838 phenoCommon CAIS ARdb_838 protEffect AR:p.(Gly168fs) ARdb_840 phenoCommon CAIS ARdb_842 phenoCommon CAIS ARdb_842 protEffect AR:p.(Leu791Pro) ARdb_487 phenoCommon PAIS ARdb_845 protEffect AR:p.(Gly265fs) ARdb_846 phenoCommon CAIS ARdb_846 protEffect AR:p.(Gln67*) ARdb_849 phenoCommon CAIS ARdb_849 protEffect AR:p.(Gln694*) ARdb_851 phenoCommon CAIS ARdb_851 protEffect AR:p.(Gln868*) ARdb_865 phenoCommon CAIS ARdb_865 protEffect AR:p.(Phe805Ile) ARdb_867 phenoCommon CAIS ARdb_867 protEffect AR:p.(Thr861Asn) ARdb_875 phenoCommon PAIS ARdb_875 protEffect AR:p.(Phe827Leu) ARdb_876 phenoCommon CAIS ARdb_876 protEffect AR:p.(Tyr514*) ARdb_877 phenoCommon CAIS ARdb_877 protEffect AR:p.(Ala587Asp) ARdb_880 phenoCommon PAIS ARdb_880 protEffect AR:p.(Phe755Ser) ARdb_881 protEffect AR:p.(Gln70Arg) ARdb_883 phenoCommon Prostate cancer ARdb_883 protEffect AR:p.(Glu255Lys) ARdb_884 phenoCommon Prostate cancer ARdb_884 protEffect AR:p.(Gly457Asp) ARdb_885 phenoCommon Prostate cancer ARdb_885 protEffect AR:p.(Thr229Cys) ARdb_886 phenoCommon Prostate cancer ARdb_886 protEffect AR:p.(Val509Leu) ARdb_887 phenoCommon Prostate cancer ARdb_887 protEffect AR:p.(Leu595Met) ARdb_888 phenoCommon Prostate cancer ARdb_888 protEffect AR:p.(Gly456Ser) ARdb_889 phenoCommon Prostate cancer ARdb_889 protEffect AR:p.(Trp435Leu) ARdb_890 phenoCommon Prostate cancer ARdb_890 protEffect AR:p.(Thr440Ile) ARdb_891 phenoCommon Prostate cancer ARdb_891 protEffect AR:p.(Thr498Ile) ARdb_195 phenoCommon Prostate cancer ARdb_893 phenoCommon CAIS ARdb_893 protEffect AR:p.(Asp768Tyr) ARdb_894 phenoCommon CAIS ARdb_894 protEffect AR:p.(Gln70*) ARdb_895 phenoCommon CAIS ARdb_895 protEffect AR:p.(Gln76*) ARdb_897 phenoCommon CAIS ARdb_897 protEffect AR:p.(Leu55fs) ARdb_898 phenoCommon CAIS ARdb_898 protEffect AR:p.(Val109fs) ARdb_899 phenoCommon CAIS ARdb_899 protEffect AR:p.(Pro380fs) ARdb_900 phenoCommon CAIS ARdb_900 protEffect AR:p.(Tyr531fs) ARdb_901 phenoCommon CAIS ARdb_901 protEffect AR:p.(Thr82fs) ARdb_902 phenoCommon CAIS ARdb_902 protEffect AR:p.(Gln76del) ARdb_903 phenoCommon CAIS ARdb_903 protEffect AR:p.(Lys349fs) ARdb_903_2 phenoCommon CAIS ARdb_903_2 protEffect AR:p.(Gly349fs) ARdb_905 phenoCommon CAIS ARdb_905 protEffect AR:p.(Trp503fs) ARdb_906 phenoCommon CAIS ARdb_907 phenoCommon PAIS ARdb_907 protEffect AR:p.(Gly796Gly) ARdb_338 phenoCommon CAIS ARdb_910 phenoCommon Prostate cancer ARdb_910 protEffect AR:p.(Glu43Gly) ARdb_911 phenoCommon Prostate cancer ARdb_911 protEffect AR:p.(Ser121Ser) ARdb_912 phenoCommon Prostate cancer ARdb_912 protEffect AR:p.(Leu194Phe) ARdb_913 phenoCommon Prostate cancer ARdb_913 protEffect AR:p.(Leu194Arg) ARdb_917 phenoCommon Prostate cancer ARdb_917 protEffect AR:p.(Thr229Ala) ARdb_918 phenoCommon Prostate cancer ARdb_918 protEffect AR:p.(Ala253Val) ARdb_919 phenoCommon Prostate cancer ARdb_919 protEffect AR:p.(Ala358Thr) ARdb_920 phenoCommon Prostate cancer ARdb_920 protEffect AR:p.(Ala359Val) ARdb_921 phenoCommon Prostate cancer ARdb_921 protEffect AR:p.(Arg362His) ARdb_922 phenoCommon Prostate cancer ARdb_922 protEffect AR:p.(Gly416Ser) ARdb_923 phenoCommon Prostate cancer ARdb_923 protEffect AR:p.(Gly416Asp) ARdb_925 phenoCommon Prostate cancer ARdb_925 protEffect AR:p.(Trp435Cys) ARdb_926 phenoCommon Prostate cancer ARdb_926 protEffect AR:p.(Thr440Pro) ARdb_932 phenoCommon Prostate cancer ARdb_932 protEffect AR:p.(Ala499Thr) ARdb_933 phenoCommon Prostate cancer ARdb_933 protEffect AR:p.(Ala499Val) ARdb_935 phenoCommon Prostate cancer ARdb_935 protEffect AR:p.(Val509Gly) ARdb_851 phenoCommon Prostate cancer ARdb_941 phenoCommon CAIS ARdb_941 protEffect AR:p.(Tyr858*) ARdb_942 phenoCommon PAIS ARdb_942 protEffect AR:p.(Ile604Asn) ARdb_943 phenoCommon CAIS ARdb_943 protEffect AR:p.(Pro672Ser) ARdb_944 phenoCommon CAIS ARdb_944 protEffect AR:p.(Gln739Arg) ARdb_946 phenoCommon PAIS ARdb_946 protEffect AR:p.(Cys602Ser) ARdb_947 phenoCommon CAIS ARdb_947 protEffect AR:p.(Glu682Asp) ARdb_338 phenoCommon PAIS ARdb_952 phenoCommon Prostate cancer ARdb_952 protEffect AR:p.(Thr559Ser) ARdb_958 phenoCommon CAIS ARdb_958 protEffect AR:p.(Pro914Arg) ARdb_54 phenoCommon E006AA Pros can cell line ARdb_754 phenoCommon CAIS ARdb_962 phenoCommon CAIS ARdb_962 protEffect AR:p.(Glu81fs) ARdb_963 phenoCommon CAIS ARdb_963 protEffect AR:p.(Pro15fs) ARdb_964 phenoCommon CAIS ARdb_964 protEffect AR:p(.Gln86*) ARdb_966 phenoCommon CAIS ARdb_966 protEffect AR:p.(Ser221fs) ARdb_967 phenoCommon CAIS ARdb_967 protEffect AR:p.(Lys241*) ARdb_969 phenoCommon CAIS ARdb_969 protEffect AR:p.(Gly455Ser) ARdb_971 phenoCommon CAIS ARdb_971 protEffect AR:p.(Gly569Glu) ARdb_972 phenoCommon CAIS ARdb_972 protEffect AR:p.(Ala574Pro) ARdb_973 phenoCommon CAIS ARdb_973 protEffect AR:p.(Cys580Trp) ARdb_974 phenoCommon CAIS ARdb_974 protEffect AR:p.(Phe584Leu) ARdb_975 phenoCommon CAIS ARdb_975 protEffect AR:p.(Tyr594*) ARdb_976 phenoCommon CAIS ARdb_976 protEffect AR:p.(Cys620Arg) ARdb_977 phenoCommon CAIS ARdb_977 protEffect AR:p.(Asp696Tyr) ARdb_979 phenoCommon CAIS ARdb_979 protEffect AR:p.(Ser704Cys) ARdb_985 phenoCommon CAIS ARdb_985 protEffect AR:p.(Phe748Cys) ARdb_988 phenoCommon CAIS ARdb_988 protEffect AR:p.(Tyr782Asp) ARdb_990 phenoCommon CAIS ARdb_990 protEffect AR:p.(Met788Ile) ARdb_992 phenoCommon CAIS ARdb_992 protEffect AR:p.(Met788Ile) ARdb_993 phenoCommon CAIS ARdb_993 protEffect AR:p.(Gln793fs) ARdb_996 phenoCommon CAIS ARdb_996 protEffect AR:p.(Asn834del) ARdb_997 phenoCommon CAIS ARdb_997 protEffect AR:p.(Leu839Val) ARdb_1001 phenoCommon CAIS ARdb_1001 protEffect AR:p.(Val904Leu) ARdb_1002 phenoCommon CAIS ARdb_1002 protEffect AR:p.(Pro905fs) ARdb_1003 phenoCommon PAIS ARdb_1003 protEffect AR:p.(Pro380Arg) ARdb_1005 phenoCommon PAIS ARdb_1005 protEffect AR:p.(Ile681Asn) ARdb_1007 phenoCommon PAIS ARdb_1007 protEffect AR:p.(Met746Leu) ARdb_1016 phenoCommon CAIS ARdb_1017 phenoCommon CAIS ARdb_1018 phenoCommon CAIS ARdb_328 phenoCommon Premature ovarian failure ARdb_1020 phenoCommon Premature ovarian failure ARdb_1020 protEffect AR:p.(Thr650Ala) ARdb_1021 phenoCommon Premature ovarian failure ARdb_1021 protEffect AR:p.(Gln658Lys) ARdb_1022 phenoCommon Premature ovarian failure ARdb_1023 phenoCommon CAIS ARdb_1023 protEffect AR:p.(Gly709Glu) ARdb_1024 phenoCommon CAIS ARdb_1024 protEffect AR:p.(Glu442*) ARdb_1025 phenoCommon CAIS ARdb_1025 protEffect AR:p.(Arg616Ser) ARdb_1026 phenoCommon AIS ARdb_1026 protEffect AR:p.(Thr878Ile) ARdb_1028 phenoCommon CAIS ARdb_1028 protEffect AR:p.(Asn637fs) ARdb_1029 phenoCommon CAIS ARdb_428 disease phenotype-associated ARdb_142 disease phenotype-associated ARdb_525 disease phenotype-associated ARdb_431 disease phenotype-associated ARdb_291 disease phenotype-associated ARdb_42 disease phenotype-associated ARdb_755 disease phenotype-associated ARdb_207 disease phenotype-associated ARdb_108 disease phenotype-associated ARdb_595 disease phenotype-associated ARdb_798 disease phenotype-associated ARdb_350 disease phenotype-associated ARdb_223 disease phenotype-associated ARdb_799 disease phenotype-associated ARdb_694 disease phenotype-associated ARdb_300 disease phenotype-associated ARdb_575 disease phenotype-associated ARdb_386 disease phenotype-associated ARdb_97 disease phenotype-associated ARdb_280 disease phenotype-associated ARdb_220 disease phenotype-associated ARdb_118 disease phenotype-associated ARdb_819 disease phenotype-associated ARdb_753 disease phenotype-associated ARdb_875 disease phenotype-associated ARdb_44 disease phenotype-associated ARdb_201 disease phenotype-associated ARdb_101 disease phenotype-associated ARdb_181 disease phenotype-associated ARdb_96 disease phenotype-associated ARdb_211 disease phenotype-associated ARdb_74 disease phenotype-associated ARdb_877 disease phenotype-associated ARdb_379 disease phenotype-associated ARdb_973 disease phenotype-associated ARdb_45 disease phenotype-associated ARdb_168 disease phenotype-associated ARdb_263 disease phenotype-associated ARdb_132 disease phenotype-associated ARdb_163 disease phenotype-associated ARdb_530 disease phenotype-associated ARdb_78 disease phenotype-associated ARdb_272 disease phenotype-associated ARdb_691 disease phenotype-associated ARdb_339 disease phenotype-associated ARdb_65 disease phenotype-associated ARdb_257 disease phenotype-associated ARdb_71 disease phenotype-associated ARdb_696 disease phenotype-associated ARdb_63 disease phenotype-associated ARdb_258 disease phenotype-associated ARdb_196 disease phenotype-associated ARdb_616 disease phenotype-associated ARdb_880 disease phenotype-associated ARdb_782 disease phenotype-associated ARdb_690 disease phenotype-associated ARdb_695 disease phenotype-associated ARdb_54 disease phenotype-associated ARdb_52 disease phenotype-associated ARdb_133 disease phenotype-associated ARdb_946 disease phenotype-associated ARdb_129 disease phenotype-associated ARdb_174 disease phenotype-associated ARdb_283 disease phenotype-associated ARdb_119 disease phenotype-associated ARdb_809 disease phenotype-associated ARdb_158 disease phenotype-associated ARdb_109 disease phenotype-associated ARdb_338 disease phenotype-associated ARdb_383 disease phenotype-associated ARdb_512 disease phenotype-associated ARdb_34 disease phenotype-associated ARdb_554 disease phenotype-associated ARdb_139 disease phenotype-associated ARdb_513 disease phenotype-associated ARdb_8 disease phenotype-associated ARdb_649 disease phenotype-associated ARdb_292 disease phenotype-associated ARdb_346 disease phenotype-associated ARdb_175 disease phenotype-associated ARdb_202 disease phenotype-associated ARdb_105 disease phenotype-associated ARdb_385 disease phenotype-associated ARdb_389 disease phenotype-associated ARdb_706 disease phenotype-associated ARdb_39 disease phenotype-associated ARdb_269 disease phenotype-associated ARdb_189 disease phenotype-associated ARdb_197 disease phenotype-associated ARdb_689 disease phenotype-associated ARdb_754 disease phenotype-associated ARdb_697 disease phenotype-associated ARdb_943 disease phenotype-associated ARdb_944 disease phenotype-associated ARdb_53 disease phenotype-associated ARdb_130 disease phenotype-associated PAH_c.1A>G commonName p.M1V PAH_c.1A>G alias ATG/GTG PAH_c.1A>G mutType Missense PAH_c.1A>G protEffect M1V PAH_c.3G>A commonName p.M1I PAH_c.3G>A alias ATG/ATA PAH_c.3G>A mutType Missense PAH_c.3G>A protEffect M1I PAH_c.1-?_168+?del commonName p.EX1_EX2del PAH_c.1-?_168+?del alias EX1_EX2del?bp PAH_c.1-?_168+?del mutType Deletion PAH_c.60+5G>T commonName IVS1+5G>T PAH_c.60+5G>T alias G/T PAH_c.60+5G>T mutType Splice PAH_c.117C>G commonName p.F39L PAH_c.117C>G alias TTC/TTG PAH_c.117C>G mutType Missense PAH_c.117C>G protEffect F39L PAH_c.115_117delTTC commonName p.F39del PAH_c.115_117delTTC alias 115_117del3bp PAH_c.115_117delTTC mutType Deletion PAH_c.143T>C commonName p.L48S PAH_c.143T>C alias TTG/TCG PAH_c.143T>C mutType Missense PAH_c.143T>C protEffect L48S PAH_c.165delT commonName p.F55>Lfs PAH_c.165delT alias 165del1bp PAH_c.165delT mutType Deletion PAH_c.121C>T commonName p.L41F PAH_c.121C>T alias CTC/TTC PAH_c.121C>T mutType Missense PAH_c.121C>T protEffect L41F PAH_c.136G>A commonName p.G46S PAH_c.136G>A alias GGT/AGT PAH_c.136G>A mutType Missense PAH_c.136G>A protEffect G46S PAH_c.168G>T commonName p.E56D PAH_c.168G>T alias GAG/GAT PAH_c.168G>T mutType Missense PAH_c.168G>T protEffect E56D PAH_[c.187A>C;c.190C>A] commonName [p.T63P;p.H64N] PAH_[c.187A>C;c.190C>A] alias [ACC/CCC;CAC/AAC] PAH_[c.187A>C;c.190C>A] mutType Missense PAH_[c.168G>A;c.168+1G>A] commonName [p.E56E;IVS2+1G>A] PAH_[c.168G>A;c.168+1G>A] alias [GAG/GAA;G/A] PAH_[c.168G>A;c.168+1G>A] mutType Deletion PAH_c.168+5G>T commonName IVS2+5G>T PAH_c.168+5G>T alias G/T PAH_c.168+5G>T mutType Splice PAH_c.168+19T>C commonName IVS2+19T>C PAH_c.168+19T>C alias T/C PAH_c.168+19T>C mutType Silent PAH_c.194T>C commonName p.I65T PAH_c.194T>C alias ATT/ACT PAH_c.194T>C mutType Missense PAH_c.194T>C protEffect I65T PAH_c.199T>C commonName p.S67P PAH_c.199T>C alias TCT/CCT PAH_c.199T>C mutType Missense PAH_c.199T>C protEffect S67P PAH_c.204A>T commonName p.R68S PAH_c.204A>T alias AGA/AGT PAH_c.204A>T mutType Missense PAH_c.204A>T protEffect R68S PAH_c.250G>T commonName p.D84Y PAH_c.250G>T alias GAT/TAT PAH_c.250G>T mutType Missense PAH_c.250G>T protEffect D84Y PAH_c.275C>T commonName p.T92I PAH_c.275C>T alias ACA/ATA PAH_c.275C>T mutType Missense PAH_c.275C>T protEffect T92I PAH_c.283_285delATC commonName p.I94del PAH_c.283_285delATC alias 283_285del3bp PAH_c.283_285delATC mutType Deletion PAH_c.311C>A commonName p.A104D PAH_c.311C>A alias GCC/GAC PAH_c.311C>A mutType Missense PAH_c.311C>A protEffect A104D PAH_c.331C>T commonName p.R111X PAH_c.331C>T alias CGA/TGA PAH_c.331C>T mutType Nonsense PAH_c.331C>T protEffect R111X PAH_c.169-?_352+?del commonName p.EX3del PAH_c.169-?_352+?del alias EX3del?bp PAH_c.169-?_352+?del mutType Deletion PAH_c.371C>T commonName p.T124I PAH_c.371C>T alias ACC/ATC PAH_c.371C>T mutType Missense PAH_c.371C>T protEffect T124I PAH_c.428A>G commonName p.D143G PAH_c.428A>G alias GAT/GGT PAH_c.428A>G mutType Missense PAH_c.428A>G protEffect D143G PAH_c.442-1G>A commonName IVS4-1G>A PAH_c.442-1G>A alias G/A PAH_c.442-1G>A mutType Splice PAH_c.442-5C>G commonName IVS4-5C>G PAH_c.442-5C>G alias C/G PAH_c.442-5C>G mutType Splice PAH_c.442G>A commonName p.G148S PAH_c.442G>A alias GGT/AGT PAH_c.442G>A mutType Missense PAH_c.442G>A protEffect G148S PAH_c.473G>A commonName p.R158Q PAH_c.473G>A alias CGG/CAG PAH_c.473G>A mutType Missense PAH_c.473G>A protEffect R158Q PAH_c.472C>T commonName p.R158W PAH_c.472C>T alias CGG/TGG PAH_c.472C>T mutType Missense PAH_c.472C>T protEffect R158W PAH_c.482T>C commonName p.F161S PAH_c.482T>C alias TTT/TCT PAH_c.482T>C mutType Missense PAH_c.482T>C protEffect F161S PAH_c.509A>G commonName p.H170R PAH_c.509A>G alias CAT/CGT PAH_c.509A>G mutType Missense PAH_c.509A>G protEffect H170R PAH_c.509+1delG commonName IVS5+1delG PAH_c.509+1delG alias 509+1del1bp PAH_c.509+1delG mutType Deletion PAH_c.517C>A commonName p.P173T PAH_c.517C>A alias CCC/ACC PAH_c.517C>A mutType Missense PAH_c.517C>A protEffect P173T PAH_c.521T>C commonName p.I174T PAH_c.521T>C alias ATC/ACC PAH_c.521T>C mutType Missense PAH_c.521T>C protEffect I174T PAH_c.526C>T commonName p.R176X PAH_c.526C>T alias CGA/TGA PAH_c.526C>T mutType Nonsense PAH_c.526C>T protEffect R176X PAH_c.561G>A commonName p.W187X PAH_c.561G>A alias TGG/TGA PAH_c.561G>A mutType Nonsense PAH_c.561G>A protEffect W187X PAH_c.569T>C commonName p.V190A PAH_c.569T>C alias GTG/GCG PAH_c.569T>C mutType Missense PAH_c.569T>C protEffect V190A PAH_c.593_614del22 commonName p.Y198_E205>Cfs PAH_c.593_614del22 alias 593_614del22bp PAH_c.593_614del22 mutType Deletion PAH_c.611A>G commonName p.EX6-96A>G PAH_c.611A>G alias TAT/TGT PAH_c.611A>G mutType Splice PAH_c.612T>G commonName p.Y204X PAH_c.612T>G alias TAT/TAG PAH_c.612T>G mutType Nonsense PAH_c.612T>G protEffect Y204X PAH_c.632delC commonName p.P211>Hfs PAH_c.632delC alias 631del1bp PAH_c.632delC mutType Deletion PAH_c.631C>A commonName p.P211T PAH_c.631C>A alias CCA/ACA PAH_c.631C>A mutType Missense PAH_c.631C>A protEffect P211T PAH_c.653G>T commonName p.G218V PAH_c.653G>T alias GGC/GTC PAH_c.653G>T mutType Missense PAH_c.653G>T protEffect G218V PAH_c.662A>G commonName p.E221G PAH_c.662A>G alias GAA/GGA PAH_c.662A>G mutType Missense PAH_c.662A>G protEffect E221G PAH_c.663_664delAG commonName p.E221_D222>Efs PAH_c.663_664delAG alias 663_664del2bp PAH_c.663_664delAG mutType Deletion PAH_c.672T>G commonName p.I224M PAH_c.672T>G alias ATT/ATG PAH_c.672T>G mutType Missense PAH_c.672T>G protEffect I224M PAH_c.696A>G commonName p.Q232Q PAH_c.696A>G alias CAA/CAG PAH_c.696A>G mutType Silent PAH_c.707-2A>G commonName IVS6-2A>G PAH_c.707-2A>G alias A/G PAH_c.707-2A>G mutType Splice PAH_c.712A>C commonName p.T238P PAH_c.712A>C alias ACT/CCT PAH_c.712A>C mutType Missense PAH_c.712A>C protEffect T238P PAH_c.722G>A commonName p.R241H PAH_c.722G>A alias CGC/CAC PAH_c.722G>A mutType Missense PAH_c.722G>A protEffect R241H PAH_c.721C>T commonName p.R241C PAH_c.721C>T alias CGC/TGC PAH_c.721C>T mutType Missense PAH_c.721C>T protEffect R241C PAH_c.724C>T commonName p.L242F PAH_c.724C>T alias CTC/TTC PAH_c.724C>T mutType Missense PAH_c.724C>T protEffect L242F PAH_c.728G>A commonName p.R243Q PAH_c.728G>A alias CGA/CAA PAH_c.728G>A mutType Missense PAH_c.728G>A protEffect R243Q PAH_c.727C>T commonName p.R243X PAH_c.727C>T alias CGA/TGA PAH_c.727C>T mutType Nonsense PAH_c.727C>T protEffect R243X PAH_c.731C>T commonName p.P244L PAH_c.731C>T alias CCT/CTT PAH_c.731C>T mutType Missense PAH_c.731C>T protEffect P244L PAH_c.735G>A commonName p.V245V PAH_c.735G>A alias GTG/GTA PAH_c.735G>A mutType Silent PAH_c.734T>A commonName p.V245E PAH_c.734T>A alias GTG/GAG PAH_c.734T>A mutType Missense PAH_c.734T>A protEffect V245E PAH_c.740G>T commonName p.G247V PAH_c.740G>T alias GGC/GTC PAH_c.740G>T mutType Missense PAH_c.740G>T protEffect G247V PAH_c.745C>T commonName p.L249F PAH_c.745C>T alias CTT/TTT PAH_c.745C>T mutType Missense PAH_c.745C>T protEffect L249F PAH_c.754C>T commonName p.R252W PAH_c.754C>T alias CGG/TGG PAH_c.754C>T mutType Missense PAH_c.754C>T protEffect R252W PAH_c.754C>G commonName p.R252G PAH_c.754C>G alias CGG/GGG PAH_c.754C>G mutType Missense PAH_c.754C>G protEffect R252G PAH_c.764T>C commonName p.L255S PAH_c.764T>C alias TTG/TCG PAH_c.764T>C mutType Missense PAH_c.764T>C protEffect L255S PAH_c.763T>G commonName p.L255V PAH_c.763T>G alias TTG/GTG PAH_c.763T>G mutType Missense PAH_c.763T>G protEffect L255V PAH_c.776C>T commonName p.A259V PAH_c.776C>T alias GCC/GTC PAH_c.776C>T mutType Missense PAH_c.776C>T protEffect A259V PAH_c.775G>A commonName p.A259T PAH_c.775G>A alias GCC/ACC PAH_c.775G>A mutType Missense PAH_c.775G>A protEffect A259T PAH_c.782G>A commonName p.R261Q PAH_c.782G>A alias CGA/CAA PAH_c.782G>A mutType Missense PAH_c.782G>A protEffect R261Q PAH_c.781C>T commonName p.R261X PAH_c.781C>T alias CGA/TGA PAH_c.781C>T mutType Nonsense PAH_c.781C>T protEffect R261X PAH_c.791A>T commonName p.H264L PAH_c.791A>T alias CAC/CTC PAH_c.791A>T mutType Missense PAH_c.791A>T protEffect H264L PAH_c.809G>A commonName p.R270K PAH_c.809G>A alias AGA/AAA PAH_c.809G>A mutType Missense PAH_c.809G>A protEffect R270K PAH_c.810A>T commonName p.R270S PAH_c.810A>T alias AGA/AGT PAH_c.810A>T mutType Missense PAH_c.810A>T protEffect R270S PAH_c.814G>T commonName p.G272X PAH_c.814G>T alias GGA/TGA PAH_c.814G>T mutType Nonsense PAH_c.814G>T protEffect G272X PAH_c.818C>T commonName p.S273F PAH_c.818C>T alias TCC/TTC PAH_c.818C>T mutType Missense PAH_c.818C>T protEffect S273F PAH_c.828G>T commonName p.M276I PAH_c.828G>T alias ATG/ATT PAH_c.828G>T mutType Missense PAH_c.828G>T protEffect M276I PAH_c.829T>G commonName p.Y277D PAH_c.829T>G alias TAT/GAT PAH_c.829T>G mutType Missense PAH_c.829T>G protEffect Y277D PAH_c.822_832del11 commonName p.K274_Y277>Nfs PAH_c.822_832del11 alias 822_832del11bp PAH_c.822_832del11 mutType Deletion PAH_c.833C>A commonName p.T278N PAH_c.833C>A alias ACC/AAC PAH_c.833C>A mutType Missense PAH_c.833C>A protEffect T278N PAH_c.838G>A commonName p.E280K PAH_c.838G>A alias GAA/AAA PAH_c.838G>A mutType Missense PAH_c.838G>A protEffect E280K PAH_c.842C>T commonName p.P281L PAH_c.842C>T alias CCT/CTT PAH_c.842C>T mutType Missense PAH_c.842C>T protEffect P281L PAH_c.842+1G>A commonName IVS7+1G>A PAH_c.842+1G>A alias G/A PAH_c.842+1G>A mutType Splice PAH_c.842+2T>A commonName IVS7+2T>A PAH_c.842+2T>A alias T/A PAH_c.842+2T>A mutType Splice PAH_c.844G>A commonName p.D282N PAH_c.844G>A alias GAC/AAC PAH_c.844G>A mutType Missense PAH_c.844G>A protEffect D282N PAH_c.896T>G commonName p.F299C PAH_c.896T>G alias TTT/TGT PAH_c.896T>G mutType Missense PAH_c.896T>G protEffect F299C PAH_c.898G>T commonName p.A300S PAH_c.898G>T alias GCC/TCC PAH_c.898G>T mutType Missense PAH_c.898G>T protEffect A300S PAH_c.912G>A commonName p.Q304Q PAH_c.912G>A alias CAG/CAA PAH_c.912G>A mutType Silent PAH_c.912+1G>A commonName IVS8+1G>A PAH_c.912+1G>A alias G/A PAH_c.912+1G>A mutType Splice PAH_c.916A>G commonName p.I306V PAH_c.916A>G alias ATT/GTT PAH_c.916A>G mutType Missense PAH_c.916A>G protEffect I306V PAH_c.926C>T commonName p.A309V PAH_c.926C>T alias GCC/GTC PAH_c.926C>T mutType Missense PAH_c.926C>T protEffect A309V PAH_c.932T>C commonName p.L311P PAH_c.932T>C alias CTG/CCG PAH_c.932T>C mutType Missense PAH_c.932T>C protEffect L311P PAH_c.964G>A commonName p.A322T PAH_c.964G>A alias GCC/ACC PAH_c.964G>A mutType Missense PAH_c.964G>A protEffect A322T PAH_c.965C>G commonName p.A322G PAH_c.965C>G alias GCC/GGC PAH_c.965C>G mutType Missense PAH_c.965C>G protEffect A322G PAH_c.977G>A commonName p.W326X PAH_c.977G>A alias TGG/TAG PAH_c.977G>A mutType Nonsense PAH_c.977G>A protEffect W326X PAH_c.997C>T commonName p.L333F PAH_c.997C>T alias CTC/TTC PAH_c.997C>T mutType Missense PAH_c.997C>T protEffect L333F PAH_c.1006C>T commonName p.Q336X PAH_c.1006C>T alias CAA/TAA PAH_c.1006C>T mutType Nonsense PAH_c.1006C>T protEffect Q336X PAH_c.1024G>A commonName p.A342T PAH_c.1024G>A alias GCA/ACA PAH_c.1024G>A mutType Missense PAH_c.1024G>A protEffect A342T PAH_c.1028A>G commonName p.Y343C PAH_c.1028A>G alias TAT/TGT PAH_c.1028A>G mutType Missense PAH_c.1028A>G protEffect Y343C PAH_c.1033G>A commonName p.A345T PAH_c.1033G>A alias GCT/ACT PAH_c.1033G>A mutType Missense PAH_c.1033G>A protEffect A345T PAH_c.1038delG commonName p.G346>Gfs PAH_c.1038delG alias 1038del1bp PAH_c.1038delG mutType Deletion PAH_c.1042C>G commonName p.L348V PAH_c.1042C>G alias CTG/GTG PAH_c.1042C>G mutType Missense PAH_c.1042C>G protEffect L348V PAH_c.1045T>C commonName p.S349P PAH_c.1045T>C alias TCA/CCA PAH_c.1045T>C mutType Missense PAH_c.1045T>C protEffect S349P PAH_c.1055delG commonName p.G352>Vfs PAH_c.1055delG alias 1055del1bp PAH_c.1055delG mutType Deletion PAH_c.1066-11G>A commonName IVS10-11G>A PAH_c.1066-11G>A alias G/A PAH_c.1066-11G>A mutType Splice PAH_c.1068C>A commonName p.Y356X PAH_c.1068C>A alias TAC/TAA PAH_c.1068C>A mutType Nonsense PAH_c.1068C>A protEffect Y356X PAH_c.1068C>G commonName p.Y356X PAH_c.1068C>G alias TAC/TAG PAH_c.1068C>G mutType Nonsense PAH_c.1068C>G protEffect Y356X PAH_c.1076C>G commonName p.S359X PAH_c.1076C>G alias TCA/TGA PAH_c.1076C>G mutType Nonsense PAH_c.1076C>G protEffect S359X PAH_c.1090_1092delCTT commonName p.L364del PAH_c.1090_1092delCTT alias 1090_1092del3bp PAH_c.1090_1092delCTT mutType Deletion PAH_c.1090_1104del15 commonName p.L364_E368del PAH_c.1090_1104del15 alias 1090_1104del15bp PAH_c.1090_1104del15 mutType Deletion PAH_c.1097C>A commonName p.P366H PAH_c.1097C>A alias CCC/CAC PAH_c.1097C>A mutType Missense PAH_c.1097C>A protEffect P366H PAH_c.1117_1118delGC commonName p.A373>Hfs PAH_c.1117_1118delGC alias 1117_1118del2bp PAH_c.1117_1118delGC mutType Deletion PAH_c.1139C>T commonName p.T380M PAH_c.1139C>T alias ACG/ATG PAH_c.1139C>T mutType Missense PAH_c.1139C>T protEffect T380M PAH_c.1155G>C commonName p.L385L PAH_c.1155G>C alias CTG/CTC PAH_c.1155G>C mutType Silent PAH_c.1162G>A commonName p.V388M PAH_c.1162G>A alias GTG/ATG PAH_c.1162G>A mutType Missense PAH_c.1162G>A protEffect V388M PAH_c.1169A>G commonName p.E390G PAH_c.1169A>G alias GAG/GGG PAH_c.1169A>G mutType Missense PAH_c.1169A>G protEffect E390G PAH_c.1181A>C commonName p.D394A PAH_c.1181A>C alias GAT/GCT PAH_c.1181A>C mutType Missense PAH_c.1181A>C protEffect D394A PAH_c.1183G>C commonName p.A395P PAH_c.1183G>C alias GCC/CCC PAH_c.1183G>C mutType Missense PAH_c.1183G>C protEffect A395P PAH_c.1197A>T commonName p.V399V PAH_c.1197A>T alias GTA/GTT PAH_c.1197A>T mutType Sil./Splice PAH_c.1208C>T commonName p.A403V PAH_c.1208C>T alias GCT/GTT PAH_c.1208C>T mutType Missense PAH_c.1208C>T protEffect A403V PAH_c.1220delC commonName p.P407>Lfs PAH_c.1220delC alias 1220del1bp PAH_c.1220delC mutType Deletion PAH_c.1222C>T commonName p.R408W PAH_c.1222C>T alias CGG/TGG PAH_c.1222C>T mutType Missense PAH_c.1222C>T protEffect R408W PAH_c.1223G>A commonName p.R408Q PAH_c.1223G>A alias CGG/CAG PAH_c.1223G>A mutType Missense PAH_c.1223G>A protEffect R408Q PAH_c.1238G>C commonName p.R413P PAH_c.1238G>C alias CGC/CCC PAH_c.1238G>C mutType Missense PAH_c.1238G>C protEffect R413P PAH_c.1241A>G commonName p.Y414C PAH_c.1241A>G alias TAC/TGC PAH_c.1241A>G mutType Missense PAH_c.1241A>G protEffect Y414C PAH_c.1243G>A commonName p.D415N PAH_c.1243G>A alias GAC/AAC PAH_c.1243G>A mutType Missense PAH_c.1243G>A protEffect D415N PAH_c.1252A>C commonName p.T418P PAH_c.1252A>C alias ACC/CCC PAH_c.1252A>C mutType Missense PAH_c.1252A>C protEffect T418P PAH_c.1315+1G>A commonName IVS12+1G>A PAH_c.1315+1G>A alias G/A PAH_c.1315+1G>A mutType Splice PAH_c.1340C>A commonName p.A447D PAH_c.1340C>A alias GCC/GAC PAH_c.1340C>A mutType Missense PAH_c.1340C>A protEffect A447D PAH_c.58C>T commonName p.Q20X PAH_c.58C>T alias CAG/TAG PAH_c.58C>T mutType Nonsense PAH_c.58C>T protEffect Q20X PAH_c.119C>T commonName p.S40L PAH_c.119C>T alias TCA/TTA PAH_c.119C>T mutType Missense PAH_c.119C>T protEffect S40L PAH_c.359G>A commonName p.W120X PAH_c.359G>A alias TGG/TAG PAH_c.359G>A mutType Nonsense PAH_c.359G>A protEffect W120X PAH_c.460T>A commonName p.Y154N PAH_c.460T>A alias TAC/AAC PAH_c.460T>A mutType Missense PAH_c.460T>A protEffect Y154N PAH_c.514C>T commonName p.Q172X PAH_c.514C>T alias CAG/TAG PAH_c.514C>T mutType Nonsense PAH_c.514C>T protEffect Q172X PAH_c.638T>C commonName p.L213P PAH_c.638T>C alias CTT/CCT PAH_c.638T>C mutType Missense PAH_c.638T>C protEffect L213P PAH_c.673C>A commonName p.P225T PAH_c.673C>A alias CCC/ACC PAH_c.673C>A mutType Missense PAH_c.673C>A protEffect P225T PAH_c.755G>A commonName p.R252Q PAH_c.755G>A alias CGG/CAG PAH_c.755G>A mutType Missense PAH_c.755G>A protEffect R252Q PAH_c.769G>T commonName p.G257C PAH_c.769G>T alias GGC/TGC PAH_c.769G>T mutType Missense PAH_c.769G>T protEffect G257C PAH_c.782G>C commonName p.R261P PAH_c.782G>C alias CGA/CCA PAH_c.782G>C mutType Missense PAH_c.782G>C protEffect R261P PAH_c.890G>A commonName p.R297H PAH_c.890G>A alias CGC/CAC PAH_c.890G>A mutType Missense PAH_c.890G>A protEffect R297H PAH_c.941C>A commonName p.P314H PAH_c.941C>A alias CCT/CAT PAH_c.941C>A mutType Missense PAH_c.941C>A protEffect P314H PAH_c.1157A>G commonName p.Y386C PAH_c.1157A>G alias TAT/TGT PAH_c.1157A>G mutType Missense PAH_c.1157A>G protEffect Y386C PAH_c.1162G>C commonName p.V388L PAH_c.1162G>C alias GTG/CTG PAH_c.1162G>C mutType Missense PAH_c.1162G>C protEffect V388L PAH_c.1180G>C commonName p.D394H PAH_c.1180G>C alias GAT/CAT PAH_c.1180G>C mutType Missense PAH_c.1180G>C protEffect D394H PAH_c.1184C>G commonName p.A395G PAH_c.1184C>G alias GCC/GGC PAH_c.1184C>G mutType Missense PAH_c.1184C>G protEffect A395G PAH_c.1198delA commonName p.R400>Gfs PAH_c.1198delA alias 1198del1bp PAH_c.1198delA mutType Deletion PAH_c.1089delG commonName p.K363>Nfs PAH_c.1089delG alias 1089del1bp PAH_c.1089delG mutType Deletion PAH_c.1129delT commonName p.Y377>Tfs PAH_c.1129delT alias 1129del1bp PAH_c.1129delT mutType Deletion PAH_c.168+6T>G commonName IVS2+6T>G PAH_c.168+6T>G alias T/G PAH_c.168+6T>G mutType Splice PAH_c.509+1G>A commonName IVS5+1G>A PAH_c.509+1G>A alias G/A PAH_c.509+1G>A mutType Splice PAH_c.842+5G>A commonName IVS7+5G>A PAH_c.842+5G>A alias G/A PAH_c.842+5G>A mutType Splice PAH_c.1065+1G>A commonName IVS10+1G>A PAH_c.1065+1G>A alias G/A PAH_c.1065+1G>A mutType Splice PAH_c.1199+1G>A commonName IVS11+1G>A PAH_c.1199+1G>A alias G/A PAH_c.1199+1G>A mutType Splice PAH_c.1242C>T commonName p.Y414Y PAH_c.1242C>T alias TAC/TAT PAH_c.1242C>T mutType Silent PAH_c.581T>C commonName p.L194P PAH_c.581T>C alias CTG/CCG PAH_c.581T>C mutType Missense PAH_c.581T>C protEffect L194P PAH_c.734T>C commonName p.V245A PAH_c.734T>C alias GTG/GCG PAH_c.734T>C mutType Missense PAH_c.734T>C protEffect V245A PAH_c.826A>G commonName p.M276V PAH_c.826A>G alias ATG/GTG PAH_c.826A>G mutType Missense PAH_c.826A>G protEffect M276V PAH_c.926C>A commonName p.A309D PAH_c.926C>A alias GCC/GAC PAH_c.926C>A mutType Missense PAH_c.926C>A protEffect A309D PAH_c.1012G>T commonName p.D338Y PAH_c.1012G>T alias GAC/TAC PAH_c.1012G>T mutType Missense PAH_c.1012G>T protEffect D338Y PAH_c.140C>T commonName p.A47V PAH_c.140C>T alias GCA/GTA PAH_c.140C>T mutType Missense PAH_c.140C>T protEffect A47V PAH_c.261C>A commonName p.S87R PAH_c.261C>A alias AGC/AGA PAH_c.261C>A mutType Missense PAH_c.261C>A protEffect S87R PAH_c.527G>T commonName p.R176L PAH_c.527G>T alias CGA/CTA PAH_c.527G>T mutType Missense PAH_c.527G>T protEffect R176L PAH_c.533A>G commonName p.E178G PAH_c.533A>G alias GAA/GGA PAH_c.533A>G mutType Missense PAH_c.533A>G protEffect E178G PAH_c.688G>A commonName p.V230I PAH_c.688G>A alias GTT/ATT PAH_c.688G>A mutType Missense PAH_c.688G>A protEffect V230I PAH_c.1065+3A>G commonName IVS10+3A>G PAH_c.1065+3A>G alias A/G PAH_c.1065+3A>G mutType Splice PAH_c.1022A>G commonName p.K341R PAH_c.1022A>G alias AAG/AGG PAH_c.1022A>G mutType Missense PAH_c.1022A>G protEffect K341R PAH_c.1039C>T commonName p.L347F PAH_c.1039C>T alias CTC/TTC PAH_c.1039C>T mutType Missense PAH_c.1039C>T protEffect L347F PAH_c.1066-3C>T commonName IVS10-3C>T PAH_c.1066-3C>T alias C/T PAH_c.1066-3C>T mutType Splice PAH_c.691T>C commonName p.S231P PAH_c.691T>C alias TCT/CCT PAH_c.691T>C mutType Missense PAH_c.691T>C protEffect S231P PAH_c.806delT commonName p.I269>Tfs PAH_c.806delT alias 806del1bp PAH_c.806delT mutType Deletion PAH_c.830A>G commonName p.Y277C PAH_c.830A>G alias TAT/TGT PAH_c.830A>G mutType Missense PAH_c.830A>G protEffect Y277C PAH_c.832A>G commonName p.T278A PAH_c.832A>G alias ACC/GCC PAH_c.832A>G mutType Missense PAH_c.832A>G protEffect T278A PAH_c.1047_1048insGTCA commonName p.S349_S350>VIfs PAH_c.1047_1048insGTCA alias 1047_1048ins4bp PAH_c.1047_1048insGTCA mutType Insertion PAH_c.649T>G commonName p.C217G PAH_c.649T>G alias TGT/GGT PAH_c.649T>G mutType Missense PAH_c.649T>G protEffect C217G PAH_c.743T>G commonName p.L248R PAH_c.743T>G alias CTG/CGG PAH_c.743T>G mutType Missense PAH_c.743T>G protEffect L248R PAH_c.1114A>T commonName p.T372S PAH_c.1114A>T alias ACA/TCA PAH_c.1114A>T mutType Missense PAH_c.1114A>T protEffect T372S PAH_c.811C>T commonName p.H271Y PAH_c.811C>T alias CAT/TAT PAH_c.811C>T mutType Missense PAH_c.811C>T protEffect H271Y PAH_c.913-7A>G commonName IVS8-7A>G PAH_c.913-7A>G alias A/G PAH_c.913-7A>G mutType Splice PAH_c.929C>T commonName p.S310F PAH_c.929C>T alias TCT/TTT PAH_c.929C>T mutType Missense PAH_c.929C>T protEffect S310F PAH_c.1130A>G commonName p.Y377C PAH_c.1130A>G alias TAC/TGC PAH_c.1130A>G mutType Missense PAH_c.1130A>G protEffect Y377C PAH_c.441+1G>A commonName IVS4+1G>A PAH_c.441+1G>A alias G/A PAH_c.441+1G>A mutType Splice PAH_c.-71A>C commonName -71A>C PAH_c.-71A>C alias A/C PAH_c.-71A>C mutType Silent PAH_c.293T>C commonName p.L98S PAH_c.293T>C alias TTG/TCG PAH_c.293T>C mutType Missense PAH_c.293T>C protEffect L98S PAH_c.847A>T commonName p.I283F PAH_c.847A>T alias ATC/TTC PAH_c.847A>T mutType Missense PAH_c.847A>T protEffect I283F PAH_c.168+5G>C commonName IVS2+5G>C PAH_c.168+5G>C alias G/C PAH_c.168+5G>C mutType Splice PAH_c.616T>G commonName p.Y206D PAH_c.616T>G alias TAC/GAC PAH_c.616T>G mutType Missense PAH_c.616T>G protEffect Y206D PAH_c.137delG commonName p.G46>Vfs PAH_c.137delG alias 137del1bp PAH_c.137delG mutType Deletion PAH_c.509+54C>G commonName IVS5+54C>G PAH_c.509+54C>G alias C/G PAH_c.509+54C>G mutType Silent PAH_c.227A>C commonName p.E76A PAH_c.227A>C alias GAG/GCG PAH_c.227A>C mutType Missense PAH_c.227A>C protEffect E76A PAH_c.722G>T commonName p.R241L PAH_c.722G>T alias CGC/CTC PAH_c.722G>T mutType Missense PAH_c.722G>T protEffect R241L PAH_c.911A>G commonName p.Q304R PAH_c.911A>G alias CAG/CGG PAH_c.911A>G mutType Missense PAH_c.911A>G protEffect Q304R PAH_c.1001G>C commonName p.C334S PAH_c.1001G>C alias TGC/TCC PAH_c.1001G>C mutType Missense PAH_c.1001G>C protEffect C334S PAH_c.1198A>C commonName p.R400R PAH_c.1198A>C alias AGG/CGG PAH_c.1198A>C mutType Silent PAH_c.509+5delG commonName IVS5+5delG PAH_c.509+5delG alias 509+5del1bp PAH_c.509+5delG mutType Deletion PAH_c.411C>T commonName p.S137S PAH_c.411C>T alias AGC/AGT PAH_c.411C>T mutType Silent PAH_c.-224G>A commonName -224G>A PAH_c.-224G>A alias G/A PAH_c.-224G>A mutType Silent PAH_c.-147C>T commonName -147C>T PAH_c.-147C>T alias C/T PAH_c.-147C>T mutType Silent PAH_c.789C>G commonName p.F263L PAH_c.789C>G alias TTC/TTG PAH_c.789C>G mutType Missense PAH_c.789C>G protEffect F263L PAH_c.970-6T>G commonName IVS9-6T>G PAH_c.970-6T>G alias T/G PAH_c.970-6T>G mutType Splice PAH_c.491T>C commonName p.I164T PAH_c.491T>C alias ATT/ACT PAH_c.491T>C mutType Missense PAH_c.491T>C protEffect I164T PAH_c.512G>C commonName p.G171A PAH_c.512G>C alias GGG/GCG PAH_c.512G>C mutType Missense PAH_c.512G>C protEffect G171A PAH_c.715G>A commonName p.G239S PAH_c.715G>A alias GGT/AGT PAH_c.715G>A mutType Missense PAH_c.715G>A protEffect G239S PAH_c.991T>C commonName p.F331L PAH_c.991T>C alias TTT/CTT PAH_c.991T>C mutType Missense PAH_c.991T>C protEffect F331L PAH_c.602A>G commonName p.H201R PAH_c.602A>G alias CAT/CGT PAH_c.602A>G mutType Missense PAH_c.602A>G protEffect H201R PAH_c.451G>C commonName p.D151H PAH_c.451G>C alias GAT/CAT PAH_c.451G>C mutType Missense PAH_c.451G>C protEffect D151H PAH_c.165T>G commonName p.F55L PAH_c.165T>G alias TTT/TTG PAH_c.165T>G mutType Missense PAH_c.165T>G protEffect F55L PAH_c.436C>T commonName p.H146Y PAH_c.436C>T alias CAC/TAC PAH_c.436C>T mutType Missense PAH_c.436C>T protEffect H146Y PAH_c.793T>G commonName p.C265G PAH_c.793T>G alias TGC/GGC PAH_c.793T>G mutType Missense PAH_c.793T>G protEffect C265G PAH_c.1048T>A commonName p.S350T PAH_c.1048T>A alias TCC/ACC PAH_c.1048T>A mutType Missense PAH_c.1048T>A protEffect S350T PAH_c.1043_1053del11 commonName p.L348_F351>Rfs PAH_c.1043_1053del11 alias 1043_1053del11bp PAH_c.1043_1053del11 mutType Deletion PAH_c.1237C>A commonName p.R413S PAH_c.1237C>A alias CGC/AGC PAH_c.1237C>A mutType Missense PAH_c.1237C>A protEffect R413S PAH_c.479A>C commonName p.Q160P PAH_c.479A>C alias CAG/CCG PAH_c.479A>C mutType Missense PAH_c.479A>C protEffect Q160P PAH_c.1159T>C commonName p.Y387H PAH_c.1159T>C alias TAC/CAC PAH_c.1159T>C mutType Missense PAH_c.1159T>C protEffect Y387H PAH_c.529G>C commonName p.V177L PAH_c.529G>C alias GTG/CTG PAH_c.529G>C mutType Missense PAH_c.529G>C protEffect V177L PAH_c.889C>T commonName p.R297C PAH_c.889C>T alias CGC/TGC PAH_c.889C>T mutType Missense PAH_c.889C>T protEffect R297C PAH_c.1196_1199delTAAG commonName p.V399_R400>Gfs PAH_c.1196_1199delTAAG alias 1196_1199del4bp PAH_c.1196_1199delTAAG mutType Deletion PAH_c.353-6T>A commonName IVS3-6T>A PAH_c.353-6T>A alias T/A PAH_c.353-6T>A mutType Splice PAH_c.353-22C>T commonName IVS3-22C>T PAH_c.353-22C>T alias C/T PAH_c.353-22C>T mutType Silent PAH_c.590_612del23 commonName p.L197_Y204>XfsX1 PAH_c.590_612del23 alias 590_612del23bp PAH_c.590_612del23 mutType Deletion PAH_c.168+1G>A commonName IVS2+1G>A PAH_c.168+1G>A alias G/A PAH_c.168+1G>A mutType Splice PAH_c.523C>G commonName p.P175A PAH_c.523C>G alias CCT/GCT PAH_c.523C>G mutType Missense PAH_c.523C>G protEffect P175A PAH_c.398_401delATCA commonName p.N133_Q134>Rfs PAH_c.398_401delATCA alias 398_401del4bp PAH_c.398_401delATCA mutType Deletion PAH_c.385G>T commonName p.D129Y PAH_c.385G>T alias GAC/TAC PAH_c.385G>T mutType Missense PAH_c.385G>T protEffect D129Y PAH_c.969+6T>A commonName IVS9+6T>A PAH_c.969+6T>A alias T/A PAH_c.969+6T>A mutType Splice PAH_c.1289T>C commonName p.L430P PAH_c.1289T>C alias CTT/CCT PAH_c.1289T>C mutType Missense PAH_c.1289T>C protEffect L430P PAH_c.1033G>T commonName p.A345S PAH_c.1033G>T alias GCT/TCT PAH_c.1033G>T mutType Missense PAH_c.1033G>T protEffect A345S PAH_c.733G>C commonName p.V245L PAH_c.733G>C alias GTG/CTG PAH_c.733G>C mutType Missense PAH_c.733G>C protEffect V245L PAH_c.46T>C commonName p.S16P PAH_c.46T>C alias TCT/CCT PAH_c.46T>C mutType Missense PAH_c.46T>C protEffect S16P PAH_c.635T>C commonName p.L212P PAH_c.635T>C alias CTT/CCT PAH_c.635T>C mutType Missense PAH_c.635T>C protEffect L212P PAH_c.527G>C commonName p.R176P PAH_c.527G>C alias CGA/CCA PAH_c.527G>C mutType Missense PAH_c.527G>C protEffect R176P PAH_c.1066_1067ins6 commonName p.Y356delins??? PAH_c.1066_1067ins6 alias 1066_1067ins6bp PAH_c.1066_1067ins6 mutType Insertion PAH_c.970-2A>C commonName IVS9-2A>C PAH_c.970-2A>C alias A/C PAH_c.970-2A>C mutType Splice PAH_c.907T>C commonName p.S303P PAH_c.907T>C alias TCC/CCC PAH_c.907T>C mutType Missense PAH_c.907T>C protEffect S303P PAH_c.1021A>T commonName p.K341X PAH_c.1021A>T alias AAG/TAG PAH_c.1021A>T mutType Nonsense PAH_c.1021A>T protEffect K341X PAH_c.618C>G commonName p.Y206X PAH_c.618C>G alias TAC/TAG PAH_c.618C>G mutType Nonsense PAH_c.618C>G protEffect Y206X PAH_c.266_267insC commonName p.P89>Pfs PAH_c.266_267insC alias 266_267ins1bp PAH_c.266_267insC mutType Insertion PAH_c.1099_1100insC commonName p.L367>Pfs PAH_c.1099_1100insC alias 1099_1100ins1bp PAH_c.1099_1100insC mutType Insertion PAH_c.899C>T commonName p.A300V PAH_c.899C>T alias GCC/GTC PAH_c.899C>T mutType Missense PAH_c.899C>T protEffect A300V PAH_c.500A>T commonName p.N167I PAH_c.500A>T alias AAC/ATC PAH_c.500A>T mutType Missense PAH_c.500A>T protEffect N167I PAH_c.737C>A commonName p.A246D PAH_c.737C>A alias GCT/GAT PAH_c.737C>A mutType Missense PAH_c.737C>A protEffect A246D PAH_c.674C>G commonName p.P225R PAH_c.674C>G alias CCC/CGC PAH_c.674C>G mutType Missense PAH_c.674C>G protEffect P225R PAH_c.601C>T commonName p.H201Y PAH_c.601C>T alias CAT/TAT PAH_c.601C>T mutType Missense PAH_c.601C>T protEffect H201Y PAH_c.1022A>C commonName p.K341T PAH_c.1022A>C alias AAG/ACG PAH_c.1022A>C mutType Missense PAH_c.1022A>C protEffect K341T PAH_c.1010G>T commonName p.G337V PAH_c.1010G>T alias GGA/GTA PAH_c.1010G>T mutType Missense PAH_c.1010G>T protEffect G337V PAH_c.558_559delAT commonName p.T186_W187>Tfs PAH_c.558_559delAT alias 558_559del2bp PAH_c.558_559delAT mutType Deletion PAH_c.699C>A commonName p.F233L PAH_c.699C>A alias TTC/TTA PAH_c.699C>A mutType Missense PAH_c.699C>A protEffect F233L PAH_c.665A>T commonName p.D222V PAH_c.665A>T alias GAT/GTT PAH_c.665A>T mutType Missense PAH_c.665A>T protEffect D222V PAH_c.125A>T commonName p.K42I PAH_c.125A>T alias AAA/ATA PAH_c.125A>T mutType Missense PAH_c.125A>T protEffect K42I PAH_[c.470G>A;c.471A>C] commonName p.R157N PAH_[c.470G>A;c.471A>C] alias AGA/AAC PAH_[c.470G>A;c.471A>C] mutType Missense PAH_c.648C>G commonName p.Y216X PAH_c.648C>G alias TAC/TAG PAH_c.648C>G mutType Nonsense PAH_c.648C>G protEffect Y216X PAH_c.511G>A commonName p.G171R PAH_c.511G>A alias GGG/AGG PAH_c.511G>A mutType Missense PAH_c.511G>A protEffect G171R PAH_c.992T>G commonName p.F331C PAH_c.992T>G alias TTT/TGT PAH_c.992T>G mutType Missense PAH_c.992T>G protEffect F331C PAH_c.960G>C commonName p.K320N PAH_c.960G>C alias AAG/AAC PAH_c.960G>C mutType Missense PAH_c.960G>C protEffect K320N PAH_c.434A>T commonName p.D145V PAH_c.434A>T alias GAC/GTC PAH_c.434A>T mutType Missense PAH_c.434A>T protEffect D145V PAH_c.1199+1G>C commonName IVS11+1G>C PAH_c.1199+1G>C alias G/C PAH_c.1199+1G>C mutType Splice PAH_c.982A>G commonName p.T328A PAH_c.982A>G alias ACT/GCT PAH_c.982A>G mutType Missense PAH_c.982A>G protEffect T328A PAH_c.241A>C commonName p.T81P PAH_c.241A>C alias ACC/CCC PAH_c.241A>C mutType Missense PAH_c.241A>C protEffect T81P PAH_c.1199+20G>C commonName IVS11+20G>C PAH_c.1199+20G>C alias G/C PAH_c.1199+20G>C mutType Splice PAH_c.208_210delTCT commonName p.S70del PAH_c.208_210delTCT alias 208_210del3bp PAH_c.208_210delTCT mutType Deletion PAH_c.922C>G commonName p.L308V PAH_c.922C>G alias CTT/GTT PAH_c.922C>G mutType Missense PAH_c.922C>G protEffect L308V PAH_c.843-2A>T commonName IVS7-2A>T PAH_c.843-2A>T alias A/T PAH_c.843-2A>T mutType Splice PAH_c.1316-5T>C commonName IVS12-5T>C PAH_c.1316-5T>C alias T/C PAH_c.1316-5T>C mutType Silent PAH_c.1316-35C>T commonName IVS12-35C>T PAH_c.1316-35C>T alias C/T PAH_c.1316-35C>T mutType Silent PAH_c.1315+2T>C commonName IVS12+2T>C PAH_c.1315+2T>C alias T/C PAH_c.1315+2T>C mutType Splice PAH_c.907T>G commonName p.S303A PAH_c.907T>G alias TCC/GCC PAH_c.907T>G mutType Missense PAH_c.907T>G protEffect S303A PAH_c.30C>G commonName p.G10G PAH_c.30C>G alias GGC/GGG PAH_c.30C>G mutType Silent PAH_c.563delG commonName p.G188>Afs PAH_c.563delG alias 563del1bp PAH_c.563delG mutType Deletion PAH_c.609C>T commonName p.C203C PAH_c.609C>T alias TGC/TGT PAH_c.609C>T mutType Silent PAH_c.1200-8G>A commonName IVS11-8G>A PAH_c.1200-8G>A alias G/A PAH_c.1200-8G>A mutType Splice PAH_c.833C>T commonName p.T278I PAH_c.833C>T alias ACC/ATC PAH_c.833C>T mutType Missense PAH_c.833C>T protEffect T278I PAH_c.47_48delCT commonName p.S16>XfsX1 PAH_c.47_48delCT alias 47_48del2bp PAH_c.47_48delCT mutType Deletion PAH_c.802T>C commonName p.Y268H PAH_c.802T>C alias TAC/CAC PAH_c.802T>C mutType Missense PAH_c.802T>C protEffect Y268H PAH_c.913-5T>G commonName IVS8-5T>G PAH_c.913-5T>G alias T/G PAH_c.913-5T>G mutType Splice PAH_c.1028A>T commonName p.Y343F PAH_c.1028A>T alias TAT/TTT PAH_c.1028A>T mutType Missense PAH_c.1028A>T protEffect Y343F PAH_c.-1C>T commonName -1C>T PAH_c.-1C>T alias C/T PAH_c.-1C>T mutType Silent PAH_c.545A>G commonName p.E182G PAH_c.545A>G alias GAA/GGA PAH_c.545A>G mutType Missense PAH_c.545A>G protEffect E182G PAH_c.895_897delTTT commonName p.F299del PAH_c.895_897delTTT alias 895_897del3bp PAH_c.895_897delTTT mutType Deletion PAH_c.967_969delACA commonName p.T323del PAH_c.967_969delACA alias 967_969del3bp PAH_c.967_969delACA mutType Deletion PAH_c.1112A>G commonName p.K371R PAH_c.1112A>G alias AAG/AGG PAH_c.1112A>G mutType Missense PAH_c.1112A>G protEffect K371R PAH_c.157C>T commonName p.R53C PAH_c.157C>T alias CGC/TGC PAH_c.157C>T mutType Missense PAH_c.157C>T protEffect R53C PAH_c.140C>A commonName p.A47E PAH_c.140C>A alias GCA/GAA PAH_c.140C>A mutType Missense PAH_c.140C>A protEffect A47E PAH_c.707-1G>A commonName IVS6-1G>A PAH_c.707-1G>A alias G/A PAH_c.707-1G>A mutType Splice PAH_c.265C>T commonName p.P89S PAH_c.265C>T alias CCT/TCT PAH_c.265C>T mutType Missense PAH_c.265C>T protEffect P89S PAH_c.608G>A commonName p.C203Y PAH_c.608G>A alias TGC/TAC PAH_c.608G>A mutType Missense PAH_c.608G>A protEffect C203Y PAH_c.207_209delTTC commonName p.P69_S70delinsP PAH_c.207_209delTTC alias 207_209del3bp PAH_c.207_209delTTC mutType Deletion PAH_c.559T>C commonName p.W187R PAH_c.559T>C alias TGG/CGG PAH_c.559T>C mutType Missense PAH_c.559T>C protEffect W187R PAH_c.970-5T>A commonName IVS9-5T>A PAH_c.970-5T>A alias T/A PAH_c.970-5T>A mutType Splice PAH_c.970-6T>G;c.969_970ins78 commonName IVS9-1_-78Altsplice PAH_c.970-6T>G;c.969_970ins78 alias [T/G;969_970ins78bp] PAH_c.970-6T>G;c.969_970ins78 mutType Splice PAH_c.1264G>A commonName p.E422K PAH_c.1264G>A alias GAG/AAG PAH_c.1264G>A mutType Missense PAH_c.1264G>A protEffect E422K PAH_c.365C>A commonName p.P122Q PAH_c.365C>A alias CCA/CAA PAH_c.365C>A mutType Missense PAH_c.365C>A protEffect P122Q PAH_c.386A>G commonName p.D129G PAH_c.386A>G alias GAC/GGC PAH_c.386A>G mutType Missense PAH_c.386A>G protEffect D129G PAH_c.439C>T commonName p.P147S PAH_c.439C>T alias CCT/TCT PAH_c.439C>T mutType Missense PAH_c.439C>T protEffect P147S PAH_c.452A>G commonName p.D151G PAH_c.452A>G alias GAT/GGT PAH_c.452A>G mutType Missense PAH_c.452A>G protEffect D151G PAH_c.493G>A commonName p.A165T PAH_c.493G>A alias GCC/ACC PAH_c.493G>A mutType Missense PAH_c.493G>A protEffect A165T PAH_c.586_608del23 commonName p.S196_C203>Lfs PAH_c.586_608del23 alias 586_608del23bp PAH_c.586_608del23 mutType Deletion PAH_c.769G>A commonName p.G257S PAH_c.769G>A alias GGC/AGC PAH_c.769G>A mutType Missense PAH_c.769G>A protEffect G257S PAH_c.1046C>T commonName p.S349L PAH_c.1046C>T alias TCA/TTA PAH_c.1046C>T mutType Missense PAH_c.1046C>T protEffect S349L PAH_c.940delC commonName p.P314>Lfs PAH_c.940delC alias 940del1bp PAH_c.940delC mutType Deletion PAH_c.1219C>T commonName p.P407S PAH_c.1219C>T alias CCT/TCT PAH_c.1219C>T mutType Missense PAH_c.1219C>T protEffect P407S PAH_c.770G>A commonName p.G257D PAH_c.770G>A alias GGC/GAC PAH_c.770G>A mutType Missense PAH_c.770G>A protEffect G257D PAH_c.510-6T>G commonName IVS5-6T>G PAH_c.510-6T>G alias T/G PAH_c.510-6T>G mutType Splice PAH_c.1024G>C commonName p.A342P PAH_c.1024G>C alias GCA/CCA PAH_c.1024G>C mutType Missense PAH_c.1024G>C protEffect A342P PAH_c.716G>C commonName p.G239A PAH_c.716G>C alias GGT/GCT PAH_c.716G>C mutType Missense PAH_c.716G>C protEffect G239A PAH_c.810_814del5 commonName p.R270_G272>Rfs PAH_c.810_814del5 alias 810_814del5bp PAH_c.810_814del5 mutType Deletion PAH_c.329C>T commonName p.S110L PAH_c.329C>T alias TCA/TTA PAH_c.329C>T mutType Missense PAH_c.329C>T protEffect S110L PAH_c.168+5G>A commonName IVS2+5G>A PAH_c.168+5G>A alias G/A PAH_c.168+5G>A mutType Splice PAH_c.665A>G commonName p.D222G PAH_c.665A>G alias GAT/GGT PAH_c.665A>G mutType Missense PAH_c.665A>G protEffect D222G PAH_c.1066T>C commonName p.Y356H PAH_c.1066T>C alias TAC/CAC PAH_c.1066T>C mutType Missense PAH_c.1066T>C protEffect Y356H PAH_c.441+5G>T commonName IVS4+5G>T PAH_c.441+5G>T alias G/T PAH_c.441+5G>T mutType Splice PAH_c.1200-1G>A commonName IVS11-1G>A PAH_c.1200-1G>A alias G/A PAH_c.1200-1G>A mutType Splice PAH_c.671T>C commonName p.I224T PAH_c.671T>C alias ATT/ACT PAH_c.671T>C mutType Missense PAH_c.671T>C protEffect I224T PAH_c.131_133delAAG commonName p.E44_V45delinsV PAH_c.131_133delAAG alias 131_133del3bp PAH_c.131_133delAAG mutType Deletion PAH_c.842+3G>C commonName IVS7+3G>C PAH_c.842+3G>C alias G/C PAH_c.842+3G>C mutType Splice PAH_c.232G>A commonName p.E78K PAH_c.232G>A alias GAA/AAA PAH_c.232G>A mutType Missense PAH_c.232G>A protEffect E78K PAH_c.864G>C commonName p.L288F PAH_c.864G>C alias TTG/TTC PAH_c.864G>C mutType Missense PAH_c.864G>C protEffect L288F PAH_c.556delA commonName p.T186>Hfs PAH_c.556delA alias 556fsdel1bp PAH_c.556delA mutType Deletion PAH_c.1237C>T commonName p.R413C PAH_c.1237C>T alias CGC/TGC PAH_c.1237C>T mutType Missense PAH_c.1237C>T protEffect R413C PAH_c.493G>C commonName p.A165P PAH_c.493G>C alias GCC/CCC PAH_c.493G>C mutType Missense PAH_c.493G>C protEffect A165P PAH_c.1084C>A commonName p.P362T PAH_c.1084C>A alias CCA/ACA PAH_c.1084C>A mutType Missense PAH_c.1084C>A protEffect P362T PAH_c.1163_1164delTG commonName p.V388>Gfs PAH_c.1163_1164delTG alias 1163_1164del2bp PAH_c.1163_1164delTG mutType Deletion PAH_c.155T>C commonName p.L52S PAH_c.155T>C alias TTG/TCG PAH_c.155T>C mutType Missense PAH_c.155T>C protEffect L52S PAH_c.158G>A commonName p.R53H PAH_c.158G>A alias CGC/CAC PAH_c.158G>A mutType Missense PAH_c.158G>A protEffect R53H PAH_c.208T>C commonName p.S70P PAH_c.208T>C alias TCT/CCT PAH_c.208T>C mutType Missense PAH_c.208T>C protEffect S70P PAH_c.231T>G commonName p.Y77X PAH_c.231T>G alias TAT/TAG PAH_c.231T>G mutType Nonsense PAH_c.231T>G protEffect Y77X PAH_c.1066-14C>G commonName IVS10-14C>G PAH_c.1066-14C>G alias C/G PAH_c.1066-14C>G mutType Splice PAH_c.794G>A commonName p.C265Y PAH_c.794G>A alias TGC/TAC PAH_c.794G>A mutType Missense PAH_c.794G>A protEffect C265Y PAH_c.561G>C commonName p.W187C PAH_c.561G>C alias TGG/TGC PAH_c.561G>C mutType Missense PAH_c.561G>C protEffect W187C PAH_c.442-?_706+?del commonName p.EX5_EX6del PAH_c.442-?_706+?del alias 442-?_706+?del?bp PAH_c.442-?_706+?del mutType Deletion PAH_c.718T>G commonName p.F240V PAH_c.718T>G alias TTC/GTC PAH_c.718T>G mutType Missense PAH_c.718T>G protEffect F240V PAH_c.746T>A commonName p.L249H PAH_c.746T>A alias CTT/CAT PAH_c.746T>A mutType Missense PAH_c.746T>A protEffect L249H PAH_c.760T>A commonName p.F254I PAH_c.760T>A alias TTC/ATC PAH_c.760T>A mutType Missense PAH_c.760T>A protEffect F254I PAH_c.770G>T commonName p.G257V PAH_c.770G>T alias GGC/GTC PAH_c.770G>T mutType Missense PAH_c.770G>T protEffect G257V PAH_c.743T>C commonName p.L248P PAH_c.743T>C alias CTG/CCG PAH_c.743T>C mutType Missense PAH_c.743T>C protEffect L248P PAH_c.169-13T>G commonName IVS2-13T>G PAH_c.169-13T>G alias T/G PAH_c.169-13T>G mutType Splice PAH_c.194T>A commonName p.I65N PAH_c.194T>A alias ATT/AAT PAH_c.194T>A mutType Missense PAH_c.194T>A protEffect I65N PAH_c.163_165delTTT commonName p.F55del PAH_c.163_165delTTT alias 163_165del3bp PAH_c.163_165delTTT mutType Deletion PAH_c.533A>T commonName p.E178V PAH_c.533A>T alias GAA/GTA PAH_c.533A>T mutType Missense PAH_c.533A>T protEffect E178V PAH_c.1200-1delG commonName IVS11-1delG PAH_c.1200-1delG alias 1200-1del1bp PAH_c.1200-1delG mutType Deletion PAH_c.520A>G commonName p.I174V PAH_c.520A>G alias ATC/GTC PAH_c.520A>G mutType Missense PAH_c.520A>G protEffect I174V PAH_c.1063C>T commonName p.Q355X PAH_c.1063C>T alias CAG/TAG PAH_c.1063C>T mutType Nonsense PAH_c.1063C>T protEffect Q355X PAH_c.183C>G commonName p.N61K PAH_c.183C>G alias AAC/AAG PAH_c.183C>G mutType Missense PAH_c.183C>G protEffect N61K PAH_c.227A>G commonName p.E76G PAH_c.227A>G alias GAG/GGG PAH_c.227A>G mutType Missense PAH_c.227A>G protEffect E76G PAH_c.694C>T commonName p.Q232X PAH_c.694C>T alias CAA/TAA PAH_c.694C>T mutType Missense PAH_c.694C>T protEffect Q232X PAH_c.1056delT commonName p.G352>Gfs PAH_c.1056delT alias 1056del1bp PAH_c.1056delT mutType Deletion PAH_c.1217T>C commonName p.I406T PAH_c.1217T>C alias ATA/ACA PAH_c.1217T>C mutType Missense PAH_c.1217T>C protEffect I406T PAH_c.1199+5G>T commonName IVS11+5G>T PAH_c.1199+5G>T alias G/T PAH_c.1199+5G>T mutType Splice PAH_c.175G>T commonName p.D59Y PAH_c.175G>T alias GAT/TAT PAH_c.175G>T mutType Missense PAH_c.175G>T protEffect D59Y PAH_c.853C>T commonName p.H285Y PAH_c.853C>T alias CAT/TAT PAH_c.853C>T mutType Missense PAH_c.853C>T protEffect H285Y PAH_c.281T>G commonName p.I94S PAH_c.281T>G alias ATC/AGC PAH_c.281T>G mutType Missense PAH_c.281T>G protEffect I94S PAH_c.737C>T commonName p.A246V PAH_c.737C>T alias GCT/GTT PAH_c.737C>T mutType Missense PAH_c.737C>T protEffect A246V PAH_c.969A>G commonName p.T323T PAH_c.969A>G alias ACA/ACG PAH_c.969A>G mutType Sil./Splice PAH_c.1030G>A commonName p.G344S PAH_c.1030G>A alias GGT/AGT PAH_c.1030G>A mutType Missense PAH_c.1030G>A protEffect G344S PAH_c.884C>G commonName p.S295X PAH_c.884C>G alias TCA/TGA PAH_c.884C>G mutType Nonsense PAH_c.884C>G protEffect S295X PAH_c.929_939del11 commonName p.S310_A313>Sfs PAH_c.929_939del11 alias 929_939del11bp PAH_c.929_939del11 mutType Deletion PAH_c.1194A>G commonName p.K398K PAH_c.1194A>G alias AAA/AAG PAH_c.1194A>G mutType Sil./Splice PAH_c.283A>T commonName p.I95F PAH_c.283A>T alias ATC/TTC PAH_c.283A>T mutType Missense PAH_c.283A>T protEffect I95F PAH_c.202A>G commonName p.R68G PAH_c.202A>G alias AGA/GGA PAH_c.202A>G mutType Missense PAH_c.202A>G protEffect R68G PAH_c.130_132delGAA commonName p.E44del PAH_c.130_132delGAA alias 130_132del3bp PAH_c.130_132delGAA mutType Deletion PAH_c.673C>G commonName p.P225A PAH_c.673C>G alias CCC/GCC PAH_c.673C>G mutType Missense PAH_c.673C>G protEffect P225A PAH_c.1066-1G>A commonName IVS10-1G>A PAH_c.1066-1G>A alias G/A PAH_c.1066-1G>A mutType Splice PAH_c.1355_1356insA commonName p.K452>Kfs PAH_c.1355_1356insA alias 1355_1356ins1bp PAH_c.1355_1356insA mutType Insertion PAH_c.981T>G commonName p.F327L PAH_c.981T>G alias TTT/TTG PAH_c.981T>G mutType Missense PAH_c.981T>G protEffect F327L PAH_c.1024delG commonName p.A342>Hfs PAH_c.1024delG alias 1024del1bp PAH_c.1024delG mutType Deletion PAH_c.193A>G commonName p.I65V PAH_c.193A>G alias ATT/GTT PAH_c.193A>G mutType Missense PAH_c.193A>G protEffect I65V PAH_c.1054G>C commonName p.G352R PAH_c.1054G>C alias GGT/CGT PAH_c.1054G>C mutType Missense PAH_c.1054G>C protEffect G352R PAH_c.806T>A commonName p.I269N PAH_c.806T>A alias ATC/AAC PAH_c.806T>A mutType Missense PAH_c.806T>A protEffect I269N PAH_c.1036G>C commonName p.G346R PAH_c.1036G>C alias GGG/CGG PAH_c.1036G>C mutType Missense PAH_c.1036G>C protEffect G346R PAH_c.1065+3A>C commonName IVS10+3A>C PAH_c.1065+3A>C alias A/C PAH_c.1065+3A>C mutType Splice PAH_c.498C>A commonName p.Y166X PAH_c.498C>A alias TAC/TAA PAH_c.498C>A mutType Nonsense PAH_c.498C>A protEffect Y166X PAH_c.716G>T commonName p.G239V PAH_c.716G>T alias GGT/GTT PAH_c.716G>T mutType Missense PAH_c.716G>T protEffect G239V PAH_c.823C>T commonName p.P275S PAH_c.823C>T alias CCC/TCC PAH_c.823C>T mutType Missense PAH_c.823C>T protEffect P275S PAH_c.502T>C commonName p.Y168H PAH_c.502T>C alias TAC/CAC PAH_c.502T>C mutType Missense PAH_c.502T>C protEffect Y168H PAH_c.805A>C commonName p.I269L PAH_c.805A>C alias ATC/CTC PAH_c.805A>C mutType Missense PAH_c.805A>C protEffect I269L PAH_c.848T>A commonName p.I283N PAH_c.848T>A alias ATC/AAC PAH_c.848T>A mutType Missense PAH_c.848T>A protEffect I283N PAH_c.733G>A commonName p.V245I PAH_c.733G>A alias GTG/ATG PAH_c.733G>A mutType Missense PAH_c.733G>A protEffect V245I PAH_c.490A>G commonName p.I164V PAH_c.490A>G alias ATT/GTT PAH_c.490A>G mutType Missense PAH_c.490A>G protEffect I164V PAH_c.212G>A commonName p.R71H PAH_c.212G>A alias CGT/CAT PAH_c.212G>A mutType Missense PAH_c.212G>A protEffect R71H PAH_c.1132A>T commonName p.T378S PAH_c.1132A>T alias ACT/TCT PAH_c.1132A>T mutType Missense PAH_c.1132A>T protEffect T378S PAH_c.344_347delAAGA commonName p.K115_D116>Tfs PAH_c.344_347delAAGA alias 344_347del4bp PAH_c.344_347delAAGA mutType Deletion PAH_c.937G>A commonName p.A313T PAH_c.937G>A alias CGA/ACA PAH_c.937G>A mutType Missense PAH_c.937G>A protEffect A313T PAH_c.-4173_-407del3767 commonName -4173_-407del PAH_c.-4173_-407del3767 alias -4173_-407del3767bp PAH_c.-4173_-407del3767 mutType Deletion PAH_c.442-?_509+?del commonName p.EX5del PAH_c.442-?_509+?del alias EX5del?bp PAH_c.442-?_509+?del mutType Deletion PAH_c.676C>T commonName p.Q226X PAH_c.676C>T alias CAG/TAG PAH_c.676C>T mutType Nonsense PAH_c.676C>T protEffect Q226X PAH_c.838G>C commonName p.E280>p.Q280 PAH_c.838G>C alias GAA/CAA PAH_c.838G>C mutType Missense PAH_c.838G>C protEffect E280>p.Q280 PAH_c.940C>T commonName p.P314S PAH_c.940C>T alias CCT/TCT PAH_c.940C>T mutType Missense PAH_c.940C>T protEffect P314S PAH_c.1249T>C commonName p.Y417H PAH_c.1249T>C alias TAC/CAC PAH_c.1249T>C mutType Missense PAH_c.1249T>C protEffect Y417H PAH_c.824C>T commonName p.P275L PAH_c.824C>T alias CCC/CTC PAH_c.824C>T mutType Missense PAH_c.824C>T protEffect P275L PAH_c.929C>A commonName p.S310Y PAH_c.929C>A alias TCT/TAT PAH_c.929C>A mutType Missense PAH_c.929C>A protEffect S310Y PAH_c.181A>G commonName p.N61D PAH_c.181A>G alias AAC/GAC PAH_c.181A>G mutType Missense PAH_c.181A>G protEffect N61D PAH_c.194T>G commonName p.I65S PAH_c.194T>G alias ATT/AGT PAH_c.194T>G mutType Missense PAH_c.194T>G protEffect I65S PAH_c.510T>A commonName p.H170Q PAH_c.510T>A alias CAT/CAA PAH_c.510T>A mutType Missense PAH_c.510T>A protEffect H170Q PAH_c.938C>T commonName p.A313V PAH_c.938C>T alias GCA/GTA PAH_c.938C>T mutType Missense PAH_c.938C>T protEffect A313V PAH_c.1117G>A commonName p.A373T PAH_c.1117G>A alias GCC/ACC PAH_c.1117G>A mutType Missense PAH_c.1117G>A protEffect A373T PAH_c.649T>C commonName p.C217R PAH_c.649T>C alias TGT/CGT PAH_c.649T>C mutType Missense PAH_c.649T>C protEffect C217R PAH_c.1019T>C commonName p.I340T PAH_c.1019T>C alias ATA/ACA PAH_c.1019T>C mutType Missense PAH_c.1019T>C protEffect I340T PAH_c.620A>G commonName p.N207S PAH_c.620A>G alias AAT/AGT PAH_c.620A>G mutType Missense PAH_c.620A>G protEffect N207S PAH_c.827T>A commonName p.M276K PAH_c.827T>A alias ATG/AAG PAH_c.827T>A mutType Missense PAH_c.827T>A protEffect M276K PAH_c.827T>G commonName p.M276R PAH_c.827T>G alias ATG/AGG PAH_c.827T>G mutType Missense PAH_c.827T>G protEffect M276R PAH_c.839_840insT commonName p.E280>Dfs PAH_c.839_840insT alias 839_840ins1bp PAH_c.839_840insT mutType Insertion PAH_c.1065+32T>A commonName IVS10+32T>A PAH_c.1065+32T>A alias T/A PAH_c.1065+32T>A mutType Silent PAH_c.441+47C>T commonName IVS4+47C>T PAH_c.441+47C>T alias C/T PAH_c.441+47C>T mutType Silent PAH_c.1204T>C commonName p.F402L PAH_c.1204T>C alias TTT/CTT PAH_c.1204T>C mutType Missense PAH_c.1204T>C protEffect F402L PAH_c.841C>T commonName p.P281S PAH_c.841C>T alias CCT/TCT PAH_c.841C>T mutType Missense PAH_c.841C>T protEffect P281S PAH_c.508C>G commonName p.H170D PAH_c.508C>G alias CAT/GAT PAH_c.508C>G mutType Missense PAH_c.508C>G protEffect H170D PAH_c.500A>G commonName p.N167S PAH_c.500A>G alias AAC/AGC PAH_c.500A>G mutType Missense PAH_c.500A>G protEffect N167S PAH_c.284_286delTCA commonName p.I95_K96delinsK PAH_c.284_286delTCA alias 284_286del3bp PAH_c.284_286delTCA mutType Deletion PAH_c.617A>G commonName p.Y206C PAH_c.617A>G alias TAC/TGC PAH_c.617A>G mutType Missense PAH_c.617A>G protEffect Y206C PAH_c.704A>C commonName p.Q235P PAH_c.704A>C alias CAG/CCG PAH_c.704A>C mutType Missense PAH_c.704A>C protEffect Q235P PAH_c.716G>A commonName p.G239D PAH_c.716G>A alias GGT/GAT PAH_c.716G>A mutType Missense PAH_c.716G>A protEffect G239D PAH_c.722delG commonName p.R241>Pfs PAH_c.722delG alias 722del1bp PAH_c.722delG mutType Deletion PAH_c.739G>A commonName p.G247S PAH_c.739G>A alias GGC/AGC PAH_c.739G>A mutType Missense PAH_c.739G>A protEffect G247S PAH_c.739G>C commonName p.G247R PAH_c.739G>C alias GGC/CGC PAH_c.739G>C mutType Missense PAH_c.739G>C protEffect G247R PAH_c.839A>G commonName p.E280G PAH_c.839A>G alias GAA/GGA PAH_c.839A>G mutType Missense PAH_c.839A>G protEffect E280G PAH_c.1007A>G commonName p.Q336R PAH_c.1007A>G alias CAA/CGA PAH_c.1007A>G mutType Missense PAH_c.1007A>G protEffect Q336R PAH_c.1184C>A commonName p.A395D PAH_c.1184C>A alias GCC/GAC PAH_c.1184C>A mutType Missense PAH_c.1184C>A protEffect A395D PAH_c.1199G>C commonName p.R400T PAH_c.1199G>C alias AGG/ACG PAH_c.1199G>C mutType Missense PAH_c.1199G>C protEffect R400T PAH_c.1199+2T>C commonName IVS11+2T>C PAH_c.1199+2T>C alias T/C PAH_c.1199+2T>C mutType Splice PAH_c.1301C>A commonName p.A434D PAH_c.1301C>A alias GCT/GAT PAH_c.1301C>A mutType Missense PAH_c.1301C>A protEffect A434D PAH_c.845A>G commonName p.D282G PAH_c.845A>G alias GAC/GGC PAH_c.845A>G mutType Missense PAH_c.845A>G protEffect D282G PAH_c.856G>A commonName p.E286K PAH_c.856G>A alias GAG/AAG PAH_c.856G>A mutType Missense PAH_c.856G>A protEffect E286K PAH_c.935G>A commonName p.G312V PAH_c.935G>A alias GGT/GTT PAH_c.935G>A mutType Missense PAH_c.935G>A protEffect G312V PAH_c.940C>A commonName p.P314T PAH_c.940C>A alias CCT/ACT PAH_c.940C>A mutType Missense PAH_c.940C>A protEffect P314T PAH_c.241_256del16 commonName p.T81_R86>VfsX6 PAH_c.241_256del16 alias 241_256del16bp PAH_c.241_256del16 mutType Deletion PAH_[c.796A>G;c.797C>A] commonName p.T266E PAH_[c.796A>G;c.797C>A] alias ACA/GAA PAH_[c.796A>G;c.797C>A] mutType Missense PAH_c.503delA commonName p.Y168>Sfs PAH_c.503delA alias 503del1bp PAH_c.503delA mutType Deletion PAH_c.510-6T>A commonName IVS5-6T>A PAH_c.510-6T>A alias T/A PAH_c.510-6T>A mutType Splice PAH_c.1166delC commonName p.A389>EfsX13 PAH_c.1166delC alias 1166del1bp PAH_c.1166delC mutType Deletion PAH_c.264_265insC commonName p.L88_P89>Pfs PAH_c.264_265insC alias 264_265ins1bp PAH_c.264_265insC mutType Insertion PAH_c.1098_1099insC commonName p.P366_L367>Pfs PAH_c.1098_1099insC alias 1098_1099ins1bp PAH_c.1098_1099insC mutType Insertion PAH_c.619A>G commonName p.N207D PAH_c.619A>G alias AAT/GAT PAH_c.619A>G mutType Missense PAH_c.619A>G protEffect N207D PAH_c.975C>G commonName p.Y325X PAH_c.975C>G alias TAC/TAG PAH_c.975C>G mutType Nonsense PAH_c.975C>G protEffect Y325X PAH_c.963C>T commonName p.L321L PAH_c.963C>T alias CTC/CTT PAH_c.963C>T mutType Silent PAH_c.1220C>T commonName p.P407L PAH_c.1220C>T alias CCT/CTT PAH_c.1220C>T mutType Missense PAH_c.1220C>T protEffect P407L PAH_c.1100T>C commonName p.L367P PAH_c.1100T>C alias CTG/CCG PAH_c.1100T>C mutType Missense PAH_c.1100T>C protEffect L367P PAH_c.2T>G commonName p.M1R PAH_c.2T>G alias ATG/AGG PAH_c.2T>G mutType Missense PAH_c.2T>G protEffect M1R PAH_c.59A>T commonName p.Q20L PAH_c.59A>T alias CAG/CTG PAH_c.59A>T mutType Missense PAH_c.59A>T protEffect Q20L PAH_c.122T>C commonName p.L41P PAH_c.122T>C alias CTC/CCC PAH_c.122T>C mutType Missense PAH_c.122T>C protEffect L41P PAH_c.464G>C commonName p.R155P PAH_c.464G>C alias CGT/CCT PAH_c.464G>C mutType Missense PAH_c.464G>C protEffect R155P PAH_c.547G>C commonName p.E183Q PAH_c.547G>C alias GAA/CAA PAH_c.547G>C mutType Missense PAH_c.547G>C protEffect E183Q PAH_c.692C>T commonName p.S231F PAH_c.692C>T alias TCT/TTT PAH_c.692C>T mutType Missense PAH_c.692C>T protEffect S231F PAH_c.974A>G commonName p.Y325C PAH_c.974A>G alias TAC/TGC PAH_c.974A>G mutType Missense PAH_c.974A>G protEffect Y325C PAH_c.990G>C commonName p.E330D PAH_c.990G>C alias GAG/GAC PAH_c.990G>C mutType Missense PAH_c.990G>C protEffect E330D PAH_c.1030G>C commonName p.G344R PAH_c.1030G>C alias GGT/CGT PAH_c.1030G>C mutType Missense PAH_c.1030G>C protEffect G344R PAH_c.1031G>T commonName p.G344V PAH_c.1031G>T alias GGT/GTT PAH_c.1031G>T mutType Missense PAH_c.1031G>T protEffect G344V PAH_c.1229T>C commonName p.F410S PAH_c.1229T>C alias TTC/TCC PAH_c.1229T>C mutType Missense PAH_c.1229T>C protEffect F410S PAH_c.969+1G>A commonName IVS9+1G>A PAH_c.969+1G>A alias G/A PAH_c.969+1G>A mutType Splice PAH_c.169_171delGAG commonName p.E57del PAH_c.169_171delGAG alias 169_171del3bp PAH_c.169_171delGAG mutType Deletion PAH_c.441+4A>G commonName IVS4+4A>G PAH_c.441+4A>G alias A/G PAH_c.441+4A>G mutType Splice PAH_c.580_581delCT commonName p.L194>Efs PAH_c.580_581delCT alias 580_581del2bp PAH_c.580_581delCT mutType Deletion PAH_c.728G>T commonName p.R243L PAH_c.728G>T alias CGA/CTA PAH_c.728G>T mutType Missense PAH_c.728G>T protEffect R243L PAH_c.737delC commonName p.R246>Vfs PAH_c.737delC alias 737del1bp PAH_c.737delC mutType Deletion PAH_c.943G>T commonName p.D315Y PAH_c.943G>T alias GAT/TAT PAH_c.943G>T mutType Missense PAH_c.943G>T protEffect D315Y PAH_c.995G>A commonName p.G332E PAH_c.995G>A alias GGG/GAG PAH_c.995G>A mutType Missense PAH_c.995G>A protEffect G332E PAH_c.1087_1088delAA commonName p.K363>Afs PAH_c.1087_1088delAA alias 1087_1088del2bp PAH_c.1087_1088delAA mutType Deletion PAH_c.1278T>C commonName p.N426N PAH_c.1278T>C alias AAT/AAC PAH_c.1278T>C mutType Silent PAH_c.838_842+3del8 commonName p.E280_IVS7+3>fs PAH_c.838_842+3del8 alias 838_832+3del8bp PAH_c.838_842+3del8 mutType Deletion PAH_c.1357del5 commonName p.X453_453+2del PAH_c.1357del5 alias 1357del5bp PAH_c.1357del5 mutType Deletion PAH_c.1054G>T commonName p.G352C PAH_c.1054G>T alias GGT/TGT PAH_c.1054G>T mutType Missense PAH_c.1054G>T protEffect G352C PAH_c.529G>A commonName p.V177M PAH_c.529G>A alias GTG/ATG PAH_c.529G>A mutType Missense PAH_c.529G>A protEffect V177M PAH_c.305T>C commonName p.I102T PAH_c.305T>C alias ATT/ACT PAH_c.305T>C mutType Missense PAH_c.305T>C protEffect I102T PAH_c.1271T>C commonName p.L424S PAH_c.1271T>C alias TTG/TCG PAH_c.1271T>C mutType Missense PAH_c.1271T>C protEffect L424S PAH_c.706+17G>T commonName IVS6+17G>T PAH_c.706+17G>T alias G/T PAH_c.706+17G>T mutType Silent PAH_c.614A>C commonName p.E205A PAH_c.614A>C alias GAG/GCG PAH_c.614A>C mutType Missense PAH_c.614A>C protEffect E205A PAH_c.719T>C commonName p.F240S PAH_c.719T>C alias TTC/TCC PAH_c.719T>C mutType Missense PAH_c.719T>C protEffect F240S PAH_c.820A>G commonName p.K274E PAH_c.820A>G alias AAG/GAG PAH_c.820A>G mutType Missense PAH_c.820A>G protEffect K274E PAH_c.953T>C commonName p.I318T PAH_c.953T>C alias ATT/ACT PAH_c.953T>C mutType Missense PAH_c.953T>C protEffect I318T PAH_c.1232C>A commonName p.S411X PAH_c.1232C>A alias TCA/TAA PAH_c.1232C>A mutType Nonsense PAH_c.1232C>A protEffect S411X PAH_c.1069T>G commonName p.C357G PAH_c.1069T>G alias TGC/GGC PAH_c.1069T>G mutType Missense PAH_c.1069T>G protEffect C357G PAH_c.1199+17G>A commonName IVS11+17G>A PAH_c.1199+17G>A alias G/A PAH_c.1199+17G>A mutType Silent PAH_c.678G>C commonName p.Q226H PAH_c.678G>C alias CAG/CAC PAH_c.678G>C mutType Missense PAH_c.678G>C protEffect Q226H PAH_c.650G>A commonName p.C217Y PAH_c.650G>A alias TGT/TAT PAH_c.650G>A mutType Missense PAH_c.650G>A protEffect C217Y PAH_c.922C>T commonName p.L308F PAH_c.922C>T alias CTT/TTT PAH_c.922C>T mutType Missense PAH_c.922C>T protEffect L308F PAH_c.1099delC commonName p.L367>Wfs PAH_c.1099delC alias 1099del1bp PAH_c.1099delC mutType Deletion PAH_c.535T>C commonName p.Y179H PAH_c.535T>C alias TAC/CAC PAH_c.535T>C mutType Missense PAH_c.535T>C protEffect Y179H PAH_c.707-7A>T commonName IVS6-7A>T PAH_c.707-7A>T alias A/T PAH_c.707-7A>T mutType Splice PAH_c.1249T>A commonName p.Y417N PAH_c.1249T>A alias TAC/AAC PAH_c.1249T>A mutType Missense PAH_c.1249T>A protEffect Y417N PAH_c.473G>C commonName p.R158P PAH_c.473G>C alias CGG/CCG PAH_c.473G>C mutType Missense PAH_c.473G>C protEffect R158P PAH_c.1049C>A commonName p.S350Y PAH_c.1049C>A alias TCC/TAC PAH_c.1049C>A mutType Missense PAH_c.1049C>A protEffect S350Y PAH_c.176A>G commonName p.D59V PAH_c.176A>G alias GAT/GTT PAH_c.176A>G mutType Missense PAH_c.176A>G protEffect D59V PAH_c.689T>G commonName p.V230G PAH_c.689T>G alias GTT/GGT PAH_c.689T>G mutType Missense PAH_c.689T>G protEffect V230G PAH_c.740G>A commonName p.G247D PAH_c.740G>A alias GGC/GAC PAH_c.740G>A mutType Missense PAH_c.740G>A protEffect G247D PAH_c.1046C>A commonName p.S349X PAH_c.1046C>A alias TCA/TAA PAH_c.1046C>A mutType Nonsense PAH_c.1046C>A protEffect S349X PAH_c.1_1359del commonName p.PAHdel PAH_c.1_1359del alias PAH deletion PAH_c.1_1359del mutType Deletion PAH_c.510-54G>A commonName IVS5-54G>A PAH_c.510-54G>A alias G/A PAH_c.510-54G>A mutType Silent PAH_c.1316-15T>C commonName IVS12-15T>C PAH_c.1316-15T>C alias T/C PAH_c.1316-15T>C mutType Silent PAH_c.869A>G commonName p.H290R PAH_c.869A>G alias CAT/CGT PAH_c.869A>G mutType Missense PAH_c.869A>G protEffect H290R PAH_c.969+5G>A commonName IVS9+5G>A PAH_c.969+5G>A alias G/A PAH_c.969+5G>A mutType Splice PAH_c.1065+7C>A commonName IVS10+7C>A PAH_c.1065+7C>A alias C/A PAH_c.1065+7C>A mutType Splice PAH_c.111_112insG commonName p.I38fsX19 PAH_c.111_112insG alias 111_112ins1bp PAH_c.111_112insG mutType Insertion PAH_c.441+3G>C commonName p.IVS4+3G>C PAH_c.441+3G>C alias G/C PAH_c.441+3G>C mutType Splice PAH_c.460T>C commonName p.Y154H PAH_c.460T>C alias TAC/CAC PAH_c.460T>C mutType Missense PAH_c.460T>C protEffect Y154H PAH_c.470G>A commonName p.R157K PAH_c.470G>A alias AGA/AAA PAH_c.470G>A mutType Missense PAH_c.470G>A protEffect R157K PAH_c.470G>T commonName p.R157I PAH_c.470G>T alias AGA/ATA PAH_c.470G>T mutType Missense PAH_c.470G>T protEffect R157I PAH_c.598_599insA commonName p.T200fsX6 PAH_c.598_599insA alias 598_599ins1bp PAH_c.598_599insA mutType Insertion PAH_c.801G>C commonName p.Q267H PAH_c.801G>C alias CAG/CAC PAH_c.801G>C mutType Missense PAH_c.801G>C protEffect Q267H PAH_c.799C>G commonName p.Q267E PAH_c.799C>G alias CAG/GAG PAH_c.799C>G mutType Missense PAH_c.799C>G protEffect Q267E PAH_c.904delT commonName p.F302fsX39 PAH_c.904delT alias 904del1bp PAH_c.904delT mutType Deletion PAH_c.1036G>A commonName p.G346R PAH_c.1036G>A alias GGG/AGG PAH_c.1036G>A mutType Missense PAH_c.1036G>A protEffect G346R PAH_c.1045T>G commonName p.S349A PAH_c.1045T>G alias TCA/GCA PAH_c.1045T>G mutType Missense PAH_c.1045T>G protEffect S349A PAH_c.1101G>A commonName p.L367L PAH_c.1101G>A alias CTG/CTA PAH_c.1101G>A mutType Silent PAH_c.1199G>A commonName p.R400K PAH_c.1199G>A alias AGG/AAG PAH_c.1199G>A mutType Missense PAH_c.1199G>A protEffect R400K PAH_c.1315+4A>G commonName p.IVS12+4A>G PAH_c.1315+4A>G alias A/G PAH_c.1315+4A>G mutType Splice PAH_c.1315+6T>A commonName p.IVS12+6T>A PAH_c.1315+6T>A alias T/A PAH_c.1315+6T>A mutType Splice PAH_c.161T>C commonName p.L54S PAH_c.161T>C alias TTA/TCA PAH_c.161T>C mutType Missense PAH_c.161T>C protEffect L54S PAH_c.1027T>G commonName p.Y343D PAH_c.1027T>G alias TAT/GAT PAH_c.1027T>G mutType Missense PAH_c.1027T>G protEffect Y343D PAH_c.205C>T commonName p.P69S PAH_c.205C>T alias CCT/TCT PAH_c.205C>T mutType Missense PAH_c.205C>T protEffect P69S PAH_c.1089G>T commonName p.K363N PAH_c.1089G>T alias AAG/AAT PAH_c.1089G>T mutType Missense PAH_c.1089G>T protEffect K363N PAH_c.613G>A commonName p.E205K PAH_c.613G>A alias GAG/AAG PAH_c.613G>A mutType Missense PAH_c.613G>A protEffect E205K PAH_c.464G>A commonName p.R155H PAH_c.464G>A alias CGT>CAT PAH_c.464G>A mutType Missense PAH_c.464G>A protEffect R155H PAH_c.841delCCG commonName p.P281fs PAH_c.841delCCG alias 841delCCG PAH_c.841delCCG mutType Splice PAH_c.527G>A commonName p.R176Q PAH_c.527G>A alias CGA/CAA PAH_c.527G>A mutType Missense PAH_c.527G>A protEffect R176Q PAH_c.506G>A commonName p.R169H PAH_c.506G>A alias CGC/CAC PAH_c.506G>A mutType Missense PAH_c.506G>A protEffect R169H PAH_c.824C>G commonName p.P275R PAH_c.824C>G alias CCC/CGC PAH_c.824C>G mutType Missense PAH_c.824C>G protEffect P275R PAH_c.1229T>G commonName p.F410C PAH_c.1229T>G alias TTC/TGC PAH_c.1229T>G mutType Missense PAH_c.1229T>G protEffect F410C PAH_c.1127delA commonName N376IfsX24 PAH_c.1127delA alias AAT/ATT PAH_c.1127delA mutType Deletion PAH_c.169_352del184 commonName EX3del4765 PAH_c.169_352del184 alias - PAH_c.169_352del184 mutType Deletion PAH_c.442_509del68 commonName EX5del955 PAH_c.442_509del68 alias - PAH_c.442_509del68 mutType Deletion PAH_c.442_509del commonName EX5del4232ins268 PAH_c.442_509del alias - PAH_c.442_509del mutType Deletion PAH_c.969+43G>T commonName IVS9+43G>T PAH_c.969+43G>T alias G/T PAH_c.969+43G>T mutType Splice PAH_c.1065+39G>T commonName IVS10+39G>T PAH_c.1065+39G>T alias G/T PAH_c.1065+39G>T mutType Splice PAH_c.1065+97G>A commonName IVS10+97G>A PAH_c.1065+97G>A alias G/A PAH_c.1065+97G>A mutType Splice PAH_c.664-665delGA commonName p.D222>STOP PAH_c.664-665delGA alias 664_665del2bp PAH_c.664-665delGA mutType Deletion PAH_c.1A>T commonName M1L PAH_c.1A>T alias ATG>TTG PAH_c.1A>T mutType Missense PAH_c.1A>T protEffect M1L PAH_c.386A>T commonName D129V PAH_c.386A>T alias GAC>GTC PAH_c.386A>T mutType Missense PAH_c.386A>T protEffect D129V PAH_c.400C>T commonName Q134X PAH_c.400C>T alias CAG/TAG PAH_c.400C>T mutType Nonsense PAH_c.400C>T protEffect Q134X PAH_c.368G>T commonName R123I PAH_c.368G>T alias AGA>ATA PAH_c.368G>T mutType Missense PAH_c.368G>T protEffect R123I PAH_c.850T>C commonName C284R PAH_c.850T>C alias TGC/CGC PAH_c.850T>C mutType Missense PAH_c.850T>C protEffect C284R PAH_c.60+40T>G commonName IVS1nt+40T>G PAH_c.60+40T>G alias T/G PAH_c.60+40T>G mutType Unknown PAH_c.352+1G>A commonName IVS3nt+1G>A PAH_c.352+1G>A alias G/A PAH_c.352+1G>A mutType Splice PAH_c.1066-31G>A commonName IVS10nt-31G>A PAH_c.1066-31G>A alias G/A PAH_c.1066-31G>A mutType Unknown PAH_c.466G>C commonName A156P PAH_c.466G>C alias GCA/CCA PAH_c.466G>C mutType Missense PAH_c.466G>C protEffect A156P PAH_c.1031G>A commonName G344D PAH_c.1031G>A alias GGT/GAT PAH_c.1031G>A mutType Missense PAH_c.1031G>A protEffect G344D PAH_c.206_208delCTT commonName P69_S70delinsP(delCTT) PAH_c.206_208delCTT alias CTTdel PAH_c.206_208delCTT mutType Deletion PAH_c.60G>C commonName Q20H PAH_c.60G>C alias CAG>CAC PAH_c.535T>A commonName Y179N PAH_c.535T>A alias TAC>AAC PAH_c.563G>A commonName G188D PAH_c.563G>A alias GGC>GAC PAH_c.609C>G commonName C203W PAH_c.609C>G alias TGC>TGG PAH_c.808A>G commonName R270G PAH_c.808A>G alias AGA>GGA PAH_c.842+1G>T commonName IVS7+1G>T PAH_c.842+1G>T alias PAH_c.1156T>G commonName Y386D PAH_c.1156T>G alias TAT>GAT PAH_c.812A>G commonName H271R PAH_c.812A>G alias CAT/CGT PAH_c.812A>G mutType Missense PAH_c.812A>G protEffect H271R PAH_c.865G>C commonName p.G289R PAH_c.865G>C alias GGA/CGA PAH_c.865G>C mutType Missense PAH_c.865G>C protEffect G289R PAH_c.440C>T commonName p.P147L PAH_c.440C>T alias CCT/CTT PAH_c.440C>T mutType Missense PAH_c.440C>T protEffect P147L PAH_c.1175T>C commonName p.F392S PAH_c.1175T>C alias TTT/TCT PAH_c.1175T>C mutType Missense PAH_c.1175T>C protEffect F392S PAH_c.1262T>C commonName p.I421T PAH_c.1262T>C alias ATT/ACT PAH_c.1262T>C mutType Missense PAH_c.1262T>C protEffect I421T PAH_c.190delc commonName H64>Tfs PAH_c.190delc alias 190del1bp PAH_c.190delc mutType Deletion PAH_c.592_613del22 commonName p.Y198_E205>Vfs PAH_c.592_613del22 alias 592_613del22bp PAH_c.592_613del22 mutType Deletion PAH_c.441+6T>C commonName IVS4+6T>C PAH_c.441+6T>C alias AGT/AGC PAH_c.441+6T>C mutType Unknown PAH_c.591_612del22pb commonName p.L197_Y204>XfsXl PAH_c.591_612del22pb alias G/T PAH_c.591_612del22pb mutType Deletion PEX1_00035 commonName -137T>C PEX1_00036 commonName -53C>G PEX1_00027 commonName 434_448delinsGCAA PEX1_00027 protEffect - PEX1_00043 commonName 781C>T PEX1_00043 protEffect - PEX1_00025 commonName 788_789delCA PEX1_00025 protEffect - PEX1_00011 commonName 904delG PEX1_00011 protEffect - PEX1_00039 commonName 1108_1109insA PEX1_00039 protEffect - PEX1_00046 commonName 1991T>C PEX1_00046 protEffect - PEX1_00072 commonName 1239G>A PEX1_00072 protEffect - PEX1_00026 commonName 1670+5G>T PEX1_00029 commonName 1777G>A PEX1_00029 protEffect - PEX1_00075 commonName 1842delA PEX1_00075 protEffect - PEX1_00017 commonName 1865_1866insCAGTGTGGA PEX1_00044 commonName 1897C>T PEX1_00044 protEffect - PEX1_00023 commonName 1952_1960insCAGTGTGGA PEX1_00023 protEffect - PEX1_00028 commonName 2008C>A PEX1_00028 protEffect - PEX1_00049 commonName 2034_2035delCA PEX1_00049 protEffect - PEX1_00030 commonName 2071+1G>T PEX1_00037 commonName 2088A>G PEX1_00037 protEffect - PEX1_00040 commonName 2391_2392delTC PEX1_00040 protEffect - PEX1_00005 commonName 126+1G>T PEX1_00005 protEffect - PEX1_00004 commonName 188+1G>C PEX1_00004 protEffect - PEX1_00006 commonName 600+1G>A PEX1_00006 protEffect - PEX1_00001 commonName 681-2A>C PEX1_00001 protEffect - PEX1_00003 commonName 952+2T>C PEX1_00003 protEffect - PEX1_00008 commonName 1688+1G>A PEX1_00008 protEffect - PEX1_00019 commonName 2085_2089delGATAA PEX1_00019 protEffect - PEX1_00002 commonName 2097_2098insT PEX1_00002 protEffect - PEX1_00022 commonName 2227_2416del PEX1_00022 protEffect - PEX1_00038 commonName 2331C>A PEX1_00038 protEffect - PEX1_00012 commonName 2368C>T PEX1_00012 protEffect - PEX1_00031 commonName 2383C>T PEX1_00031 protEffect - PEX1_00013 commonName 2392C>G PEX1_00013 protEffect - PEX1_00009 commonName 2528G>A PEX1_00009 protEffect - PEX1_00016 commonName 2537_2545delATGAAGTTAinsTCATGGT PEX1_00016 protEffect - PEX1_00021 commonName 2614C>T PEX1_00021 protEffect - PEX1_00010 commonName 2730delA PEX1_00010 protEffect - PEX1_00020 commonName 2814_2818delCTTTG PEX1_00020 protEffect - PEX1_00034 commonName 2846G>A PEX1_00034 protEffect - PEX1_00007 commonName 2916delA PEX1_00007 protEffect - PEX1_00018 commonName 2926+1G>A PEX1_00014 commonName 2926+2T>C PEX1_00041 commonName 2966T>C PEX1_00041 protEffect - PEX1_00015 commonName 2992C>T PEX1_00015 protEffect - PEX1_00042 commonName 2993G>A PEX1_00042 protEffect - PEX1_00048 commonName 3022_3024delCCT PEX1_00048 protEffect - PEX1_00033 commonName 3180_3181insT PEX1_00033 protEffect - PEX1_00074 commonName 3207+1G>C PEX1_00045 commonName 3378C>A/G PEX1_00045 protEffect - PEX1_00024 commonName 3850T>C PEX1_00024 protEffect - PEX10_00001 commonName 4delG PEX10_00001 protEffect - PEX10_00010 commonName 13_28del, ins20bp PEX10_00010 protEffect - PEX10_00018 commonName 52G>A PEX10_00018 protEffect - PEX10_00011 commonName 279C>T PEX10_00011 protEffect - PEX10_00013 commonName 332T>C PEX10_00013 protEffect - PEX10_00006 commonName 373C>T PEX10_00006 protEffect - PEX10_00008 commonName 600+1G>A PEX10_00003 commonName 704_705insA * PEX10_00003 protEffect - PEX10_00005 commonName 730C>T * PEX10_00005 protEffect - PEX10_00009 commonName 814_815delCT PEX10_00009 protEffect - PEX10_00014 commonName 820A>G PEX10_00014 protEffect - PEX10_00019 commonName 835G>T PEX10_00019 protEffect - PEX10_00015 commonName 843G>A PEX10_00015 protEffect - PEX10_00004 commonName 868C>G PEX10_00004 protEffect - PEX10_00007 commonName 870C>G PEX10_00007 protEffect - PEX10_00017 commonName 881G>A PEX10_00017 protEffect - PEX10_00016 commonName 981+11G>A PEX12_00012 commonName 26_27delCA PEX12_00010 commonName 126+1G>T PEX12_00013 commonName 202_204delCTT PEX12_00013 protEffect - PEX12_00002 commonName 260_261insAA PEX12_00002 protEffect - PEX12_00014 commonName 268_271delAAGA PEX12_00014 protEffect - PEX12_00017 commonName 273A>T PEX12_00017 protEffect - PEX12_00018 commonName 308_309insT PEX12_00018 protEffect - PEX12_00011 commonName 538C>T PEX12_00011 protEffect - PEX12_00004 commonName 541_542insT PEX12_00004 protEffect - PEX12_00019 commonName 604C>T PEX12_00019 protEffect - PEX12_00020 commonName 625C>T PEX12_00020 protEffect - PEX12_00001 commonName 681-2A>C PEX12_00015 commonName 684_687delTAGT PEX12_00015 protEffect - PEX12_00005 commonName 733_734insGCCT PEX12_00005 protEffect - PEX12_00016 commonName 744_745insT PEX12_00016 protEffect - PEX12_00021 commonName 875_876delCT PEX12_00021 protEffect - PEX12_00006 commonName 887delT PEX12_00006 protEffect - PEX12_00008 commonName 887_888delTC PEX12_00008 protEffect - PEX12_00022 commonName 949C>T PEX12_00022 protEffect - PEX12_00009 commonName 959C>T PEX12_00009 protEffect - PEX12_00007 commonName 1047_1049delACA PEX12_00007 protEffect - PEX13_00003 commonName 937T>G PEX13_00003 protEffect - PEX13_00002 commonName 970G>T PEX13_00002 protEffect - PEX13_00001 commonName 977T>C PEX13_00001 protEffect - PEX14_00001 commonName 553C>T PEX14_00001 protEffect - PEX16_00001 commonName 526C>T PEX16_00001 protEffect - PEX16_00002 commonName 952+2T>C PEX16_00002 protEffect - PEX19_00001 commonName 763_764insA PEX19_00001 protEffect - PEX2_00010 commonName -58G>T PEX2_00011 commonName 24G>A PEX2_00011 protEffect - PEX2_00014 commonName 115C>T PEX2_00014 protEffect - PEX2_00004 commonName 163 G>A PEX2_00004 protEffect - PEX2_00012 commonName 209A>G PEX2_00012 protEffect - PEX2_00001 commonName 273delT PEX2_00001 protEffect - PEX2_00007 commonName 279_283delGAGAT PEX2_00007 protEffect - PEX2_00002 commonName 355C>T PEX2_00002 protEffect - PEX2_00003 commonName 373C>T PEX2_00003 protEffect - PEX2_00013 commonName 477G>A PEX2_00013 protEffect - PEX2_00006 commonName 550delC PEX2_00006 protEffect - PEX2_00005 commonName 642delG PEX2_00005 protEffect - PEX2_00008 commonName 669G>A PEX2_00008 protEffect - PEX2_00009 commonName 739T>C PEX2_00009 protEffect - PEX2_00015 commonName 834_838delTACTT PEX2_00015 protEffect - PEX26_00008 commonName 2T>C PEX26_00008 protEffect - PEX26_00010 commonName 34_35insC PEX26_00010 protEffect - PEX26_00001 commonName 37_38delAG PEX26_00001 protEffect - PEX26_00016 commonName 131T>C PEX26_00016 protEffect - PEX26_00009 commonName 134T>C PEX26_00009 protEffect - PEX26_00003 commonName 192_216del PEX26_00003 protEffect - PEX26_00013 commonName 230+1G>T PEX26_00013 protEffect - PEX26_00012 commonName 254_255insT PEX26_00012 protEffect - PEX26_00011 commonName 265G>A PEX26_00011 protEffect - PEX26_00005 commonName 292C>T PEX26_00005 protEffect - PEX26_00007 commonName 296G>A PEX26_00007 protEffect - PEX26_00015 commonName 350C>T PEX26_00015 protEffect - PEX26_00004 commonName 353C>G PEX26_00004 protEffect - PEX26_00018 commonName 457C>G PEX26_00018 protEffect - PEX26_00019 commonName 497G>A PEX26_00019 protEffect - PEX26_00006 commonName 574C>T PEX26_00006 protEffect - PEX26_00002 commonName 667+2T>C PEX26_00014 commonName 862delC PEX26_00014 protEffect - PEX3_00001 commonName 543_544insT PEX3_00001 protEffect - PEX3_00002 commonName 942-8T>G PEX3_00002 protEffect - PEX5_00009 commonName 826C>T PEX5_00009 protEffect - PEX5_00007 commonName 1184+5G>A PEX5_00007 protEffect - PEX5_00003 commonName 1255C>T PEX5_00003 protEffect - PEX5_00002 commonName 1554T>G PEX5_00002 protEffect - PEX5_00013 commonName 1561-2A>C PEX5_00001 commonName 1578T>G PEX5_00001 protEffect - PEX6_00043 commonName -304A>G PEX6_00042 commonName -55C>T PEX6_00004 commonName 10_69del PEX6_00004.1 commonName 126_217del PEX6_00054 commonName 35T>C PEX6_00054 protEffect - PEX6_00061 commonName 114_119delTGGCCCT PEX6_00061 protEffect - PEX6_00020 commonName 170T>C PEX6_00020 protEffect - PEX6_00062 commonName 224dupT PEX6_00062 protEffect - PEX6_00035 commonName 235G>C PEX6_00035 protEffect - PEX6_00021 commonName 275_280delTGCGGG PEX6_00021 protEffect - PEX6_00063 commonName 277C>G PEX6_00063 protEffect - PEX6_00052 commonName 281C>A PEX6_00052 protEffect - PEX6_00017 commonName 282_287del PEX6_00017 protEffect - PEX6_00051 commonName 311delG PEX6_00051 protEffect - PEX6_00036 commonName 399T>G PEX6_00036 protEffect - PEX6_00023 commonName 402delC PEX6_00023 protEffect - PEX6_00007 commonName 510_511insT PEX6_00007 protEffect - PEX6_00008 commonName 517delA PEX6_00008 protEffect - PEX6_00022 commonName 530delC PEX6_00022 protEffect - PEX6_00064 commonName 557C>A PEX6_00064 protEffect - PEX6_00068 commonName 656A>C PEX6_00068 protEffect - PEX6_00065 commonName 656delA PEX6_00065 protEffect - PEX6_00066 commonName 659G>T PEX6_00066 protEffect - PEX6_00046 commonName 685_686insAG PEX6_00046 protEffect - PEX6_00028 commonName 727C>T PEX6_00028 protEffect - PEX6_00002 commonName 802_815del PEX6_00002 protEffect - PEX6_00038 commonName 813G>T PEX6_00038 protEffect - PEX6_00024 commonName 814_817dupCTTG PEX6_00024 protEffect - PEX6_00055 commonName 821C>T PEX6_00055 protEffect - PEX6_00010 commonName 853C>G PEX6_00010 protEffect - PEX6_00071 commonName 856delC PEX6_00071 protEffect - PEX6_00067 commonName 867delA PEX6_00067 protEffect - PEX6_00056 commonName 882+1G>A PEX6_00044 commonName 883-3T>C PEX6_00029 commonName 883-2A>G PEX6_00029 protEffect - PEX6_00072 commonName 883_1130del PEX6_00058 commonName 914delA PEX6_00058 protEffect - PEX6_00074 commonName 1047-2 A>G PEX6_00074 protEffect - PEX6_00073 commonName 1047-1G>A PEX6_00073 protEffect - PEX6_00075 commonName 1054C>T PEX6_00075 protEffect - PEX6_00076 commonName 1130+1G>A PEX6_00076 protEffect - PEX6_00077 commonName 1131-1G>C PEX6_00077 protEffect - PEX6_00047 commonName 1176T>A PEX6_00047 protEffect - PEX6_00078 commonName 1198T>A PEX6_00078 protEffect - PEX6_00030 commonName 1301delC PEX6_00030 protEffect - PEX6_00079 commonName 1314_1321delGGAGGCCT PEX6_00080 commonName 1367+1delG PEX6_00011 commonName 1314_1320del PEX6_00011 protEffect - PEX6_00081 commonName 1404delA PEX6_00081 protEffect - PEX6_00082 commonName 1415dupC PEX6_00082 protEffect - PEX6_00014 commonName 499_500delTG PEX6_00014 protEffect - PEX6_00083 commonName 1495delC PEX6_00083 protEffect - PEX6_00084 commonName 1532T>G PEX6_00084 protEffect - PEX6_00085 commonName 1553C>A PEX6_00085 protEffect - PEX6_00059 commonName 1646C>T PEX6_00059 protEffect - PEX6_00025 commonName 1688+1G>A PEX6_00025 protEffect - PEX6_00086 commonName 1689-1G>T PEX6_00086 protEffect - PEX6_00087 commonName 1711G>A PEX6_00087 protEffect - PEX6_00031 commonName 1715C>T PEX6_00031 protEffect - PEX6_00088 commonName 1793_1794delAG PEX6_00088 protEffect - PEX6_00018 commonName 1801C>T PEX6_00018 protEffect - PEX6_00006 commonName 1802G>A PEX6_00006 protEffect - PEX6_00089 commonName 1814T>G PEX6_00089 protEffect - PEX6_00090 commonName 1947delG PEX6_00090 protEffect - PEX6_00091 commonName 1958C>G PEX6_00091 protEffect - PEX6_00045 commonName 1961+20G>A PEX6_00034 commonName 1962-1G>A PEX6_00092 commonName 1992G>C PEX6_00092 protEffect - PEX6_00093 commonName 2048T>C PEX6_00093 protEffect - PEX6_00032 commonName 2094+2T>C PEX6_00013 commonName 2095-10_2095-21delCCTTTCACGCAC PEX6_00013 protEffect - PEX6_00094 commonName 2120T>G PEX6_00094 protEffect - PEX6_00033 commonName 2534T>C PEX6_00033 protEffect - PEX6_00095 commonName 2095-2A>G PEX6_00095 protEffect - PEX6_00096 commonName 2207-2217delGACGCTCAGGC PEX6_00096 protEffect - PEX6_00097 commonName 2225T>C PEX6_00097 protEffect - PEX6_00099 commonName 2301-15C>G PEX6_00099 protEffect - PEX6_00100 commonName 2300+28G>A PEX6_00100 protEffect - PEX6_00098 commonName 2301-5C>G PEX6_00102 commonName 2356C>T PEX6_00102 protEffect - PEX6_00001 commonName 2362G>A PEX6_00001 protEffect - PEX6_00037 commonName 2364G>A PEX6_00037 protEffect - PEX6_00016 commonName 2398_2417delinsT PEX6_00039 commonName 2426C>T PEX6_00039 protEffect - PEX6_00005 commonName 2434C>T PEX6_00005 protEffect - PEX6_00027 commonName 2435G>A PEX6_00027 protEffect - PEX6_00103 commonName 2440C>T PEX6_00103 protEffect - PEX6_00057 commonName 2472-2A>G PEX6_00104 commonName 2482C>T PEX6_00104 protEffect - PEX6_00060 commonName 2546A>C PEX6_00060 protEffect - PEX6_00009 commonName 2578C>T PEX6_00009 protEffect - PEX6_00015 commonName 2579G>A PEX6_00015 protEffect - PEX6_00105 commonName 2591T>C PEX6_00105 protEffect - PEX6_00106 commonName 2602_2603ins350 PEX6_00106 protEffect - PEX6_00107 commonName 2626C>T PEX6_00107 protEffect - PEX6_00048 commonName 2644G>A PEX6_00048 protEffect - PEX6_00108 commonName 2663G>C PEX6_00108 protEffect - PEX6_00026 commonName 2666+2T>C PEX6_00109 commonName 2667-2A>G PEX6_00110 commonName 2726T>A PEX6_00110 protEffect - PEX6_00012 commonName 2735C>T PEX6_00012 protEffect - PEX6_00049 commonName 2770G>T PEX6_00049 protEffect - PEX6_00003 commonName 2788delG PEX6_00003 protEffect - PEX6_00111 commonName 2807-2A>G PEX6_00111 protEffect - PEX6_00040 commonName 2814A>G PEX6_00040 protEffect - PEX6_00041 commonName 2816C>A PEX6_00041 protEffect - PEX6_00050 commonName 2958C>T PEX7_00038 commonName -95T>C PEX7_00027 commonName -45C>T PEX7_00027 protEffect - PEX7_00031 commonName 12_18dupGTGCGGT PEX7_00032 commonName 40A>C PEX7_00032 protEffect - PEX7_00030 commonName 45_52delGGGACGCC PEX7_00030 protEffect - PEX7_00036 commonName 45_52dupGGGACGCC PEX7_00003 commonName 64_65delGC PEX7_00016 commonName 74C>T PEX7_00016 protEffect - PEX7_00018 commonName 116A>C PEX7_00018 protEffect - PEX7_00011 commonName 120C>G PEX7_00011 protEffect - PEX7_00017 commonName 122G>T PEX7_00017 protEffect - PEX7_00026 commonName 130+1G>A PEX7_00004 commonName 188+1G>A PEX7_00005 commonName 188+1G>C PEX7_00013 commonName 257G>T PEX7_00013 protEffect - PEX7_00033 commonName 329A>G PEX7_00033 protEffect - PEX7_00025 commonName 334C>T PEX7_00025 protEffect - PEX7_00024 commonName 340-10A>G PEX7_00023 commonName 345T>G PEX7_00023 protEffect - PEX7_00037 commonName 370_396del27nt PEX7_00037 protEffect - PEX7_00015 commonName 395C>A PEX7_00015 protEffect - PEX7_00014 commonName 426delA PEX7_00014 protEffect - PEX7_00035 commonName 454A>T PEX7_00035 protEffect - PEX7_00020 commonName 490T>C PEX7_00020 protEffect - PEX7_00021 commonName 508_510delTGT PEX7_00021 protEffect - PEX7_00012 commonName 618G>A PEX7_00012 protEffect - PEX7_00006 commonName 649G>A PEX7_00006 protEffect - PEX7_00007 commonName 653C>T PEX7_00007 protEffect - PEX7_00008 commonName 747+1G>A PEX7_00029 commonName 773T>C PEX7_00029 protEffect - PEX7_00010 commonName 785C>T PEX7_00010 protEffect - PEX7_00019 commonName 429delT PEX7_00019 protEffect - PEX7_00028 commonName 854A>G PEX7_00028 protEffect - PEX7_00009 commonName 870_871insCAA PEX7_00009 protEffect - PEX7_00001 commonName 875T>A PEX7_00001 protEffect - PEX7_00002 commonName 903+1G>C PEX7_00034 commonName 917C>T PEX7_00034 protEffect - dbRIP_1000001 phenoCommon Breast Cancer dbRIP_1000002 phenoCommon MHC related dbRIP_1000003 phenoCommon MHC related dbRIP_1000004 phenoCommon MHC related dbRIP_1000005 phenoCommon MHC related;NA dbRIP_1000014 phenoCommon NA;NA dbRIP_1000018 phenoCommon Brachio-oto-renal (BOR) syndrome dbRIP_1000019 phenoCommon Dent's disease, low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis dbRIP_1000021 phenoCommon Apert Syndrome dbRIP_1000022 phenoCommon Apert Syndrome dbRIP_1000023 phenoCommon Neurofibromatosis dbRIP_1000040 phenoCommon NA;NA dbRIP_1000093 phenoCommon Hypertension dbRIP_1000154 phenoCommon NA;NA dbRIP_1000159 phenoCommon NA;NA dbRIP_1000179 phenoCommon NA;NA dbRIP_1000216 phenoCommon NA;NA dbRIP_1000311 phenoCommon NA;NA dbRIP_1000327 phenoCommon Myeloproliferative disorders;NA dbRIP_1000381 phenoCommon NA;NA dbRIP_1000390 phenoCommon NA;NA dbRIP_1000472 phenoCommon NA;NA dbRIP_1000533 phenoCommon NA;NA dbRIP_1000539 phenoCommon NA;NA dbRIP_1000617 phenoCommon NA;NA dbRIP_1000643 phenoCommon NA;NA dbRIP_1000682 phenoCommon NA;NA dbRIP_1000698 phenoCommon NA;NA dbRIP_1000714 phenoCommon NA;NA dbRIP_1000731 phenoCommon NA;NA dbRIP_1000755 phenoCommon NA;NA dbRIP_1000797 phenoCommon NA;NA dbRIP_1000997 phenoCommon NA;NA dbRIP_1001031 phenoCommon NA;NA dbRIP_1001036 phenoCommon NA;NA dbRIP_1001042 phenoCommon NA;NA dbRIP_1001055 phenoCommon NA;NA dbRIP_1001313 phenoCommon MHC related;NA dbRIP_1001388 phenoCommon NA;NA dbRIP_1001389 phenoCommon NA;NA dbRIP_1001393 phenoCommon NA;NA dbRIP_1001395 phenoCommon NA;NA dbRIP_1001396 phenoCommon NA;NA dbRIP_1001397 phenoCommon NA;NA dbRIP_1001398 phenoCommon NA;NA dbRIP_1001399 phenoCommon NA;NA dbRIP_1001400 phenoCommon NA;NA dbRIP_1001403 phenoCommon NA;NA dbRIP_1001404 phenoCommon NA;NA dbRIP_1001405 phenoCommon NA;NA dbRIP_1001406 phenoCommon NA;NA dbRIP_1001407 phenoCommon NA;NA dbRIP_1001408 phenoCommon NA;NA dbRIP_1001410 phenoCommon NA;NA dbRIP_1001411 phenoCommon NA;NA dbRIP_1001412 phenoCommon NA;NA dbRIP_1001413 phenoCommon NA;NA dbRIP_1001415 phenoCommon NA;NA dbRIP_1001416 phenoCommon NA;NA dbRIP_1001418 phenoCommon NA;NA dbRIP_1001420 phenoCommon NA;NA dbRIP_1001421 phenoCommon NA;NA dbRIP_1001422 phenoCommon NA;NA dbRIP_1001423 phenoCommon NA;NA dbRIP_1001424 phenoCommon NA;NA dbRIP_1001426 phenoCommon NA;NA dbRIP_1001427 phenoCommon NA;NA dbRIP_1001428 phenoCommon NA;NA dbRIP_1001429 phenoCommon NA;NA dbRIP_1001430 phenoCommon NA;NA dbRIP_1001431 phenoCommon NA;NA dbRIP_1001432 phenoCommon NA;NA dbRIP_1001438 phenoCommon NA;NA dbRIP_1001439 phenoCommon NA;NA dbRIP_1001441 phenoCommon NA;NA dbRIP_1001442 phenoCommon NA;NA dbRIP_1001443 phenoCommon NA;NA dbRIP_1001444 phenoCommon NA;NA dbRIP_1001445 phenoCommon NA;NA dbRIP_1001446 phenoCommon NA;NA dbRIP_1001447 phenoCommon NA;NA dbRIP_1001450 phenoCommon NA;NA dbRIP_1001451 phenoCommon NA;NA dbRIP_1001452 phenoCommon NA;NA dbRIP_1001453 phenoCommon NA;NA dbRIP_1001455 phenoCommon NA;NA dbRIP_1001456 phenoCommon NA;NA dbRIP_1001457 phenoCommon NA;NA dbRIP_1001458 phenoCommon NA;NA dbRIP_1001462 phenoCommon NA;NA dbRIP_1001463 phenoCommon NA;NA dbRIP_1001464 phenoCommon NA;NA dbRIP_1001465 phenoCommon NA;NA dbRIP_1001466 phenoCommon NA;NA dbRIP_1001467 phenoCommon NA;NA dbRIP_1001468 phenoCommon NA;NA dbRIP_1001469 phenoCommon NA;NA dbRIP_1001471 phenoCommon NA;NA dbRIP_1001472 phenoCommon NA;NA dbRIP_1001473 phenoCommon NA;NA dbRIP_1001475 phenoCommon NA;NA dbRIP_1001476 phenoCommon NA;NA dbRIP_1001477 phenoCommon NA;NA dbRIP_1001478 phenoCommon NA;NA dbRIP_1001479 phenoCommon NA;NA dbRIP_1001480 phenoCommon NA;NA dbRIP_1001481 phenoCommon NA;NA dbRIP_1001482 phenoCommon NA;NA dbRIP_1001483 phenoCommon NA;NA dbRIP_1001484 phenoCommon NA;NA dbRIP_1001485 phenoCommon NA;NA dbRIP_1001486 phenoCommon NA;NA dbRIP_1001487 phenoCommon NA;NA dbRIP_1001490 phenoCommon NA;NA dbRIP_1001491 phenoCommon NA;NA dbRIP_1001492 phenoCommon NA;NA dbRIP_1001493 phenoCommon NA;NA dbRIP_1001495 phenoCommon NA;NA dbRIP_1001496 phenoCommon NA;NA dbRIP_1001498 phenoCommon NA;NA dbRIP_1001503 phenoCommon NA;NA dbRIP_1001504 phenoCommon NA;NA dbRIP_1001505 phenoCommon NA;NA dbRIP_1001506 phenoCommon NA;NA dbRIP_1001508 phenoCommon NA;NA dbRIP_1001511 phenoCommon NA;NA dbRIP_1001512 phenoCommon NA;NA dbRIP_1001513 phenoCommon NA;NA dbRIP_1001514 phenoCommon NA;NA dbRIP_1001518 phenoCommon NA;NA dbRIP_1001519 phenoCommon NA;NA dbRIP_1001520 phenoCommon NA;NA dbRIP_1001521 phenoCommon NA;NA dbRIP_1001523 phenoCommon NA;NA dbRIP_1001524 phenoCommon NA;NA dbRIP_1001527 phenoCommon NA;NA dbRIP_1001529 phenoCommon NA;NA dbRIP_1001530 phenoCommon NA;NA dbRIP_1001531 phenoCommon NA;NA dbRIP_1001532 phenoCommon NA;NA dbRIP_1001534 phenoCommon NA;NA dbRIP_1001535 phenoCommon NA;NA dbRIP_1001536 phenoCommon NA;NA dbRIP_1001537 phenoCommon NA;NA dbRIP_1001539 phenoCommon NA;NA dbRIP_1001540 phenoCommon NA;NA dbRIP_1001542 phenoCommon NA;NA dbRIP_1001544 phenoCommon NA;NA dbRIP_1001545 phenoCommon NA;NA dbRIP_1001548 phenoCommon NA;NA dbRIP_1001550 phenoCommon NA;NA dbRIP_1001551 phenoCommon NA;NA dbRIP_1001552 phenoCommon NA;NA dbRIP_1001555 phenoCommon NA;NA dbRIP_1001557 phenoCommon NA;NA dbRIP_1001558 phenoCommon NA;NA dbRIP_1001559 phenoCommon NA;NA dbRIP_1001560 phenoCommon NA;NA dbRIP_1001561 phenoCommon NA;NA dbRIP_1001562 phenoCommon NA;NA dbRIP_1001564 phenoCommon NA;NA dbRIP_1001570 phenoCommon NA;NA dbRIP_1001575 phenoCommon NA;NA dbRIP_1001576 phenoCommon NA;NA dbRIP_1001577 phenoCommon NA;NA dbRIP_1001578 phenoCommon NA;NA dbRIP_1001579 phenoCommon NA;NA dbRIP_1001580 phenoCommon NA;NA dbRIP_1001581 phenoCommon NA;NA dbRIP_1001582 phenoCommon NA;NA dbRIP_1001583 phenoCommon NA;NA dbRIP_1001585 phenoCommon NA;NA dbRIP_1001602 phenoCommon NA;NA dbRIP_1001603 phenoCommon Associated with leukemia dbRIP_1001604 phenoCommon Huntington disease dbRIP_1001605 phenoCommon Acholinesterasemia dbRIP_1001606 phenoCommon Acute intermittent porphyria dbRIP_1001607 phenoCommon C1 inhibitor deficiency dbRIP_1001608 phenoCommon Glycerol kinase deficiency dbRIP_1001609 phenoCommon Familial hypocalciuric hypercalcemia dbRIP_1001610 phenoCommon Hereditary desmoid disease dbRIP_1001611 phenoCommon Hemophilia B dbRIP_1001612 phenoCommon breast/ovarian cancer dbRIP_1001613 phenoCommon Breast cancer dbRIP_1001614 phenoCommon Retinitis Pigmentosa dbRIP_1001615 phenoCommon Hemophilia A dbRIP_1001616 phenoCommon Mowat-Wilson syndrome dbRIP_1001617 phenoCommon Adrenoleukodystrophy dbRIP_1001618 phenoCommon Familial Adenomatous Polyposis dbRIP_1001619 phenoCommon Haemophilia dbRIP_1001620 phenoCommon ALPS dbRIP_1001621 phenoCommon Haemophilia B;Haemophilia B dbRIP_1002086 phenoCommon ADOA dbRIP_4000007 phenoCommon intron:PSD3:NM:206909:5/13 dbRIP_2000003 phenoCommon NA;NA dbRIP_2000005 phenoCommon NA;NA dbRIP_2000011 phenoCommon NA;NA dbRIP_2000017 phenoCommon NA;NA dbRIP_2000023 phenoCommon NA;NA dbRIP_2000024 phenoCommon NA;NA dbRIP_2000026 phenoCommon NA;NA dbRIP_2000028 phenoCommon NA;NA dbRIP_2000029 phenoCommon NA;NA dbRIP_2000033 phenoCommon NA;NA dbRIP_2000034 phenoCommon NA;NA dbRIP_2000041 phenoCommon NA;NA dbRIP_2000053 phenoCommon NA;NA dbRIP_2000057 phenoCommon NA;NA dbRIP_2000061 phenoCommon NA;NA dbRIP_2000074 phenoCommon NA;NA dbRIP_2000077 phenoCommon NA;NA;NA dbRIP_2000080 phenoCommon NA;NA dbRIP_2000081 phenoCommon NA;NA dbRIP_2000083 phenoCommon NA;NA dbRIP_2000085 phenoCommon NA;NA dbRIP_2000087 phenoCommon NA;NA dbRIP_2000097 phenoCommon NA;NA dbRIP_2000100 phenoCommon NA;NA dbRIP_2000109 phenoCommon NA;NA dbRIP_2000112 phenoCommon NA;NA dbRIP_2000116 phenoCommon NA;NA dbRIP_2000124 phenoCommon NA;NA dbRIP_2000133 phenoCommon NA;NA dbRIP_2000134 phenoCommon NA;NA dbRIP_2000138 phenoCommon NA;NA dbRIP_2000143 phenoCommon NA;NA dbRIP_2000148 phenoCommon NA;NA dbRIP_2000187 phenoCommon NA;NA;NA dbRIP_2000193 phenoCommon NA;NA dbRIP_2000206 phenoCommon NA;NA;NA dbRIP_2000207 phenoCommon NA;NA dbRIP_2000217 phenoCommon NA;NA dbRIP_2000228 phenoCommon NA;NA dbRIP_2000240 phenoCommon NA;NA dbRIP_2000246 phenoCommon NA;NA dbRIP_2000252 phenoCommon NA;NA dbRIP_2000259 phenoCommon NA;NA dbRIP_2000260 phenoCommon NA;NA dbRIP_2000273 phenoCommon NA;NA dbRIP_2000274 phenoCommon NA;NA dbRIP_2000275 phenoCommon NA;NA dbRIP_2000281 phenoCommon NA;NA;NA dbRIP_2000285 phenoCommon NA;NA dbRIP_2000289 phenoCommon NA;NA dbRIP_2000290 phenoCommon NA;NA;NA dbRIP_2000292 phenoCommon NA;NA dbRIP_2000293 phenoCommon NA;NA dbRIP_2000295 phenoCommon NA;NA dbRIP_2000300 phenoCommon NA;NA dbRIP_2000307 phenoCommon NA;NA;NA dbRIP_2000313 phenoCommon NA;NA dbRIP_2000315 phenoCommon NA;NA dbRIP_2000317 phenoCommon NA;NA dbRIP_2000318 phenoCommon NA;NA dbRIP_2000320 phenoCommon NA;NA;NA dbRIP_2000328 phenoCommon NA;NA dbRIP_2000338 phenoCommon NA;NA;NA dbRIP_2000387 phenoCommon NA;NA dbRIP_2000390 phenoCommon b-Globin related dbRIP_2000391 phenoCommon Haemophilia A dbRIP_2000392 phenoCommon Dystrophin related dbRIP_2000393 phenoCommon Haemophilia A dbRIP_2000394 phenoCommon Fukutin related dbRIP_2000395 phenoCommon Colon cancer dbRIP_2000396 phenoCommon Dystrophin related dbRIP_2000397 phenoCommon RP2 related dbRIP_2000398 phenoCommon severe hemophilia B dbRIP_2000399 phenoCommon Chronic granulomatous disease dbRIP_2000400 phenoCommon Coffin-Lowry syndrome (CLS) dbRIP_2000401 phenoCommon Choroideremia dbRIP_2000402 phenoCommon X-linked dilated cardiomyopathy dbRIP_2000403 phenoCommon Haemophilia B dbRIP_2000404 phenoCommon Chronic granulomatous disease dbRIP_2000441 phenoCommon NA;NA dbRIP_2000464 phenoCommon NA;NA dbRIP_2000490 phenoCommon NA;NA dbRIP_2000496 phenoCommon NA;NA dbRIP_2000499 phenoCommon NA;NA dbRIP_2000512 phenoCommon NA;NA dbRIP_2000516 phenoCommon NA;NA dbRIP_2000525 phenoCommon NA;NA dbRIP_2000526 phenoCommon NA;NA dbRIP_2000537 phenoCommon NA;NA dbRIP_2000563 phenoCommon NA;NA dbRIP_3000039 phenoCommon Hereditary elliptocytosis dbRIP_3000040 phenoCommon Fukuyama-type congenital muscular dystrophy dbRIP_3000041 phenoCommon Immunodeficiency X-linked Agammaglobulinemia (XLA) ALPL_c.-195C>T commonName ALPL_c.-195C>T phenoCommon perinatal hypophosphatasia ALPL_c.-195C>T protEffect ALPL_c.3G>A commonName M-17I ALPL_c.3G>A phenoCommon adult hypophosphatasia ALPL_c.3G>A protEffect p.M1I ALPL_c.17T>A commonName L-12X ALPL_c.17T>A phenoCommon childhood hypophosphatasia ALPL_c.17T>A protEffect p.L6X ALPL_c.41T>C commonName L-4P ALPL_c.41T>C phenoCommon adult hypophosphatasia ALPL_c.41T>C protEffect p.L14P ALPL_c.43_46delACTA commonName ALPL_c.43_46delACTA phenoCommon infantile hypophosphatasia ALPL_c.43_46delACTA protEffect p.N16PfsX2 ALPL_c.50C>T commonName S-1F ALPL_c.50C>T phenoCommon infantile hypophosphatasia ALPL_c.50C>T protEffect p.S17F ALPL_c.83A>G commonName Y11C ALPL_c.83A>G phenoCommon infantile hypophosphatasia ALPL_c.83A>G protEffect p.Y28C ALPL_c.88C>T commonName R13X ALPL_c.88C>T phenoCommon perinatal hypophosphatasia ALPL_c.88C>T protEffect p.R30X ALPL_c.94C>T commonName Q15X ALPL_c.94C>T phenoCommon perinatal hypophosphatasia ALPL_c.94C>T protEffect p.Q32X ALPL_c.98C>T commonName A16V ALPL_c.98C>T phenoCommon childhood hypophosphatasia ALPL_c.98C>T protEffect p.A33V ALPL_c.106A>C commonName T19P ALPL_c.106A>C phenoCommon perinatal hypophosphatasia ALPL_c.106A>C protEffect p.T36P ALPL_c.110T>C commonName L20P ALPL_c.110T>C phenoCommon perinatal hypophosphatasia ALPL_c.110T>C protEffect p.L37P ALPL_c.119C>T commonName A23V ALPL_c.119C>T phenoCommon perinatal hypophosphatasia ALPL_c.119C>T protEffect p.A40V ALPL_c.130C>T commonName Q27X ALPL_c.130C>T phenoCommon perinatal hypophosphatasia ALPL_c.130C>T protEffect p.Q44X ALPL_c.151G>T commonName A34S ALPL_c.151G>T phenoCommon infantile hypophosphatasia ALPL_c.151G>T protEffect p.A51S ALPL_c.152C>T commonName A34V ALPL_c.152C>T phenoCommon infantile hypophosphatasia ALPL_c.152C>T protEffect p.A51V ALPL_c.184A>T commonName M45L ALPL_c.184A>T phenoCommon infantile hypophosphatasia ALPL_c.184A>T protEffect p.M62L ALPL_c.184A>G commonName M45V ALPL_c.184A>G phenoCommon infantile hypophosphatasia ALPL_c.184A>G protEffect p.M62V ALPL_c.186G>C commonName M45I ALPL_c.186G>C phenoCommon childhood hypophosphatasia ALPL_c.186G>C protEffect p.M62I ALPL_c.187G>C commonName G46R ALPL_c.187G>C phenoCommon infantile hypophosphatasia ALPL_c.187G>C protEffect p.G63R ALPL_c.187_205del19 commonName ALPL_c.187_205del19 phenoCommon adult hypophosphatasia ALPL_c.187_205del19 protEffect p.G63LfsX53 ALPL_c.188G>T commonName G46V ALPL_c.188G>T phenoCommon infantile hypophosphatasia ALPL_c.188G>T protEffect p.G63V ALPL_c.203C>T commonName T51M ALPL_c.203C>T phenoCommon childhood hypophosphatasia ALPL_c.203C>T protEffect p.T68M ALPL_c.211C>T commonName R54C ALPL_c.211C>T phenoCommon infantile hypophosphatasia ALPL_c.211C>T protEffect p.R71C ALPL_c.211C>A commonName R54S ALPL_c.211C>A phenoCommon childhood hypophosphatasia ALPL_c.211C>A protEffect p.R71S ALPL_c.212G>C commonName R54P ALPL_c.212G>C phenoCommon perinatal hypophosphatasia ALPL_c.212G>C protEffect p.R71P ALPL_c.212G>A commonName R54H ALPL_c.212G>A phenoCommon perinatal hypophosphatasia ALPL_c.212G>A protEffect p.R71H ALPL_c.215T>C commonName I55T ALPL_c.215T>C phenoCommon odonto hypophosphatasia ALPL_c.215T>C protEffect p.I72T ALPL_c.223G>A commonName G58S ALPL_c.223G>A phenoCommon infantile hypophosphatasia ALPL_c.223G>A protEffect p.G75S ALPL_c.227A>G commonName Q59R ALPL_c.227A>G phenoCommon infantile hypophosphatasia ALPL_c.227A>G protEffect p.Q76R ALPL_c.242delC commonName ALPL_c.242delC phenoCommon perinatal hypophosphatasia ALPL_c.242delC protEffect p.P81LfsX41 ALPL_c.247G>T commonName E66X ALPL_c.247G>T phenoCommon infantile hypophosphatasia ALPL_c.247G>T protEffect p.E83X ALPL_c.251A>T commonName E67V ALPL_c.251A>T phenoCommon odonto hypophosphatasia ALPL_c.251A>T protEffect p.E84V ALPL_c.262G>A commonName E71K ALPL_c.262G>A phenoCommon infantile hypophosphatasia ALPL_c.262G>A protEffect p.E88K ALPL_c.277C>T commonName P76S ALPL_c.277C>T phenoCommon prenat. benign hypophosphatasia ALPL_c.277C>T protEffect p.P93S ALPL_c.297+3G>T commonName ALPL_c.297+3G>T phenoCommon infantile hypophosphatasia ALPL_c.297+3G>T protEffect ALPL_c.298-2A>G commonName ALPL_c.298-2A>G phenoCommon perinatal hypophosphatasia ALPL_c.298-2A>G protEffect ALPL_c.299C>T commonName T83M ALPL_c.299C>T phenoCommon infantile hypophosphatasia ALPL_c.299C>T protEffect p.T100M ALPL_c.303_311del commonName N85_N87del ALPL_c.303_311del phenoCommon perinatal hypophosphatasia ALPL_c.303_311del protEffect p.N102_N104del ALPL_c.318G>C commonName Q89H ALPL_c.318G>C phenoCommon infantile hypophosphatasia ALPL_c.318G>C protEffect p.Q106H ALPL_c.323C>T commonName P91L ALPL_c.323C>T phenoCommon odonto hypophosphatasia ALPL_c.323C>T protEffect p.P108L ALPL_c.331G>A commonName A94T ALPL_c.331G>A phenoCommon odonto hypophosphatasia ALPL_c.331G>A protEffect p.A111T ALPL_c.334G>A commonName G95S ALPL_c.334G>A phenoCommon infantile hypophosphatasia ALPL_c.334G>A protEffect p.G112S ALPL_c.335_340dupGCACCG commonName G95_96dup ALPL_c.335_340dupGCACCG phenoCommon prenatal benign hypophosphatasia ALPL_c.335_340dupGCACCG protEffect p.G112_113dup ALPL_c.340G>A commonName A97T ALPL_c.340G>A phenoCommon infantile hypophosphatasia ALPL_c.340G>A protEffect p.A114T ALPL_c.341C>G commonName A97G ALPL_c.341C>G phenoCommon perinatal hypophosphatasia ALPL_c.341C>G protEffect p.A114G ALPL_c.346G>T commonName A99S ALPL_c.346G>T phenoCommon adult hypophosphatasia ALPL_c.346G>T protEffect p.A116S ALPL_c.346G>A commonName A99T ALPL_c.346G>A phenoCommon adult hypophosphatasia ALPL_c.346G>A protEffect p.A116T ALPL_c.348_349insACCGTC commonName ALPL_c.348_349insACCGTC phenoCommon perinatal hypophosphatasia ALPL_c.348_349insACCGTC protEffect p.A116_Y117insTV ALPL_c.343_348dupACCGCC commonName ALPL_c.343_348dupACCGCC phenoCommon odonto hypophosphatasia ALPL_c.343_348dupACCGCC protEffect p.T115_A116dup ALPL_c.350A>G commonName Y100C ALPL_c.350A>G phenoCommon childhood hypophosphatasia ALPL_c.350A>G protEffect p.Y117C ALPL_c.358G>A commonName G103R ALPL_c.358G>A phenoCommon perinatal hypophosphatasia ALPL_c.358G>A protEffect p.G120R ALPL_c.368C>A commonName A106D ALPL_c.368C>A phenoCommon perinatal hypophosphatasia ALPL_c.368C>A protEffect p.A123D ALPL_c.382G>A commonName V111M ALPL_c.382G>A phenoCommon perinatal hypophosphatasia ALPL_c.382G>A protEffect p.V128M ALPL_c.385G>A commonName G112R ALPL_c.385G>A phenoCommon perinatal hypophosphatasia ALPL_c.385G>A protEffect p.G129R ALPL_c.388_391delGTAA commonName ALPL_c.388_391delGTAA phenoCommon perinatal hypophosphatasia ALPL_c.388_391delGTAA protEffect p.V130AfsX34 ALPL_c.389delT commonName ALPL_c.389delT phenoCommon perinatal hypophosphatasia ALPL_c.389delT protEffect p.V130EfsX35 ALPL_c.392delG commonName ALPL_c.392delG phenoCommon perinat/infant hypophosphatasia ALPL_c.392delG protEffect p.S131TfsX34 ALPL_c.394G>A commonName A115T ALPL_c.394G>A phenoCommon adult hypophosphatasia ALPL_c.394G>A protEffect p.A132T ALPL_c.395C>T commonName A115V ALPL_c.395C>T phenoCommon adult hypophosphatasia ALPL_c.395C>T protEffect p.A132V ALPL_c.400_401delinsCA commonName T117H ALPL_c.400_401delinsCA phenoCommon perinatal hypophosphatasia ALPL_c.400_401delinsCA protEffect p.T134H ALPL_c.401C>A commonName T117N ALPL_c.401C>A phenoCommon perinatal hypophosphatasia ALPL_c.401C>A protEffect p.T134N ALPL_c.406C>T commonName R119C ALPL_c.406C>T phenoCommon odonto hypophosphatasia ALPL_c.406C>T protEffect p.R136C ALPL_c.407G>A commonName R119H ALPL_c.407G>A phenoCommon infantile hypophosphatasia ALPL_c.407G>A protEffect p.R136H ALPL_c.422C>T commonName T124I ALPL_c.422C>T phenoCommon infantile hypophosphatasia ALPL_c.422C>T protEffect p.T141I ALPL_c.442A>G commonName T131A ALPL_c.442A>G phenoCommon perinatal hypophosphatasia ALPL_c.442A>G protEffect p.T148A ALPL_c.443C>T commonName T131I ALPL_c.443C>T phenoCommon infantile hypophosphatasia ALPL_c.443C>T protEffect p.T148I ALPL_c.454C>T commonName R135C ALPL_c.454C>T phenoCommon adult hypophosphatasia ALPL_c.454C>T protEffect p.R152C ALPL_c.457T>C commonName W136R ALPL_c.457T>C phenoCommon prenatal benign hypophosphatasia ALPL_c.457T>C protEffect p.W153R ALPL_c.472+1G>A commonName ALPL_c.472+1G>A phenoCommon odonto hypophosphatasia ALPL_c.472+1G>A protEffect ALPL_c.480delT commonName ALPL_c.480delT phenoCommon perinatal hypophosphatasia ALPL_c.480delT protEffect ALPL_c.484G>A commonName G145S ALPL_c.484G>A phenoCommon infantile hypophosphatasia ALPL_c.484G>A protEffect p.G162S ALPL_c.485G>T commonName G145V ALPL_c.485G>T phenoCommon infantile hypophosphatasia ALPL_c.485G>T protEffect p.G162V ALPL_c.491T>G commonName V147G ALPL_c.491T>G phenoCommon infantile hypophosphatasia ALPL_c.491T>G protEffect p.V164G ALPL_c.500C>T commonName T150M ALPL_c.500C>T phenoCommon infantile hypophosphatasia ALPL_c.500C>T protEffect p.T167M ALPL_c.508A>G commonName N153D ALPL_c.508A>G phenoCommon perinatal hypophosphatasia ALPL_c.508A>G protEffect p.N170D ALPL_c.511C>T commonName H154Y ALPL_c.511C>T phenoCommon infantile hypophosphatasia ALPL_c.511C>T protEffect p.H171Y ALPL_c.512A>G commonName H154R ALPL_c.512A>G phenoCommon adult hypophosphatasia ALPL_c.512A>G protEffect p.H171R ALPL_c.526G>A commonName A159T ALPL_c.526G>A phenoCommon childhood hypophosphatasia ALPL_c.526G>A protEffect p.A176T ALPL_c.529G>A commonName A160T ALPL_c.529G>A phenoCommon adult hypophosphatasia ALPL_c.529G>A protEffect p.A177T ALPL_c.535G>A commonName A162T ALPL_c.535G>A phenoCommon perinatal hypophosphatasia ALPL_c.535G>A protEffect p.A179T ALPL_c.542C>T commonName S164L ALPL_c.542C>T phenoCommon infantile hypophosphatasia ALPL_c.542C>T protEffect p.S181L ALPL_c.544delG commonName ALPL_c.544delG phenoCommon perinatal hypophosphatasia ALPL_c.544delG protEffect p.A182LfsX16 ALPL_c.547G>C commonName D166H ALPL_c.547G>C phenoCommon infantile hypophosphatasia ALPL_c.547G>C protEffect p.D183H ALPL_c.550C>T commonName R167W ALPL_c.550C>T phenoCommon perinatal hypophosphatasia ALPL_c.550C>T protEffect p.R184W ALPL_c.567C>A commonName D172E ALPL_c.567C>A phenoCommon perinatal hypophosphatasia ALPL_c.567C>A protEffect p.D189E ALPL_c.568_570delAAC commonName N173del ALPL_c.568_570delAAC phenoCommon perinatal hypophosphatasia ALPL_c.568_570delAAC protEffect p.N190del ALPL_c.571G>A commonName E174K ALPL_c.571G>A phenoCommon infantile hypophosphatasia ALPL_c.571G>A protEffect p.E191K ALPL_c.572A>G commonName E174G ALPL_c.572A>G phenoCommon odonto hypophosphatasia ALPL_c.572A>G protEffect p.E191G ALPL_c.575T>C commonName M175T ALPL_c.575T>C phenoCommon infantile hypophosphatasia ALPL_c.575T>C protEffect p.M192T ALPL_c.577C>G commonName P176A ALPL_c.577C>G phenoCommon adult hypophosphatasia ALPL_c.577C>G protEffect p.P193A ALPL_c.602G>A commonName C184Y ALPL_c.602G>A phenoCommon perinatal hypophosphatasia ALPL_c.602G>A protEffect p.C201Y ALPL_c.609C>G commonName D186E ALPL_c.609C>G phenoCommon perinatal hypophosphatasia ALPL_c.609C>G protEffect p.D203E ALPL_c.620A>C commonName Q190P ALPL_c.620A>C phenoCommon perinatal hypophosphatasia ALPL_c.620A>C protEffect p.Q207P ALPL_c.622C>T commonName L191F ALPL_c.622C>T phenoCommon perinatal hypophosphatasia ALPL_c.622C>T protEffect p.L208F ALPL_c.630_637dupTAACATCA commonName ALPL_c.630_637dupTAACATCA phenoCommon perinatal hypophosphatasia ALPL_c.630_637dupTAACATCA protEffect p.R213IfsX8 ALPL_c.631A>G commonName N194D ALPL_c.631A>G phenoCommon infantile hypophosphatasia ALPL_c.631A>G protEffect p.N211D ALPL_c.634A>T commonName I195F ALPL_c.634A>T phenoCommon perinatal hypophosphatasia ALPL_c.634A>T protEffect p.I212F ALPL_c.644T>C commonName I198T ALPL_c.644T>C phenoCommon infantile hypophosphatasia ALPL_c.644T>C protEffect p.I215T ALPL_c.648+1G>T commonName ALPL_c.648+1G>T phenoCommon perinatal hypophosphatasia ALPL_c.648+1G>T protEffect ALPL_c.648+1G>A commonName ALPL_c.648+1G>A phenoCommon perinatal hypophosphatasia ALPL_c.648+1G>A protEffect ALPL_c.649-1_649-3delinsAA commonName ALPL_c.649-1_649-3delinsAA phenoCommon perinatal hypophosphatasia ALPL_c.649-1_649-3delinsAA protEffect ALPL_c.650delTinsCTAA commonName ALPL_c.650delTinsCTAA phenoCommon perinatal hypophosphatasia ALPL_c.650delTinsCTAA protEffect p.217delVinsAK ALPL_c.653T>C commonName I201T ALPL_c.653T>C phenoCommon perinatal hypophosphatasia ALPL_c.653T>C protEffect p.I218T ALPL_c.658G>A commonName G203R ALPL_c.658G>A phenoCommon perinatal hypophosphatasia ALPL_c.658G>A protEffect p.G220R ALPL_c.659G>T commonName G203V ALPL_c.659G>T phenoCommon odonto hypophosphatasia ALPL_c.659G>T protEffect p.G220V ALPL_c.659G>C commonName G203A ALPL_c.659G>C phenoCommon perinatal hypophosphatasia ALPL_c.659G>C protEffect p.G220A ALPL_c.661G>C commonName G204R ALPL_c.661G>C phenoCommon perinatal hypophosphatasia ALPL_c.661G>C protEffect p.G221R ALPL_c.662_663insG commonName ALPL_c.662_663insG phenoCommon perinatal hypophosphatasia ALPL_c.662_663insG protEffect p.G222WfsX10 ALPL_c.662delG commonName ALPL_c.662delG phenoCommon perinatal hypophosphatasia ALPL_c.662delG protEffect p.G221VfsX56 ALPL_c.662G>T commonName G204V ALPL_c.662G>T phenoCommon perinatal hypophosphatasia ALPL_c.662G>T protEffect p.G221V ALPL_c.667C>T commonName R206W ALPL_c.667C>T phenoCommon perinatal hypophosphatasia ALPL_c.667C>T protEffect p.R223W ALPL_c.668G>A commonName R206Q ALPL_c.668G>A phenoCommon perinatal hypophosphatasia ALPL_c.668G>A protEffect p.R223Q ALPL_c.670A>G commonName K207E ALPL_c.670A>G phenoCommon infantile hypophosphatasia ALPL_c.670A>G protEffect p.K224E ALPL_c.677T>C commonName M209T ALPL_c.677T>C phenoCommon infantile hypophosphatasia ALPL_c.677T>C protEffect p.M226T ALPL_c.704A>G commonName E218G ALPL_c.704A>G phenoCommon adult hypophosphatasia ALPL_c.704A>G protEffect p.E235G ALPL_c.738G>T commonName R229S ALPL_c.738G>T phenoCommon childhood hypophosphatasia ALPL_c.738G>T protEffect p.R246S ALPL_c.746G>T commonName G232V ALPL_c.746G>T phenoCommon perinatal hypophosphatasia ALPL_c.746G>T protEffect p.G249V ALPL_c.791A>G commonName K247R ALPL_c.791A>G phenoCommon perinatal hypophosphatasia ALPL_c.791A>G protEffect p.K264R ALPL_c.792G>A commonName K247K ALPL_c.792G>A phenoCommon perinatal hypophosphatasia ALPL_c.792G>A protEffect p.K264K ALPL_c.797_802del commonName S249_H250del ALPL_c.797_802del phenoCommon perinatal hypophosphatasia ALPL_c.797_802del protEffect p.S266_H267del ALPL_c.809G>A commonName W253X ALPL_c.809G>A phenoCommon perinatal hypophosphatasia ALPL_c.809G>A protEffect p.W270X ALPL_c.814C>T commonName R255C ALPL_c.814C>T phenoCommon perinatal hypophosphatasia ALPL_c.814C>T protEffect p.R272C ALPL_c.814delC commonName ALPL_c.814delC phenoCommon perinatal hypophosphatasia ALPL_c.814delC protEffect p.R272AfsX5 ALPL_c.815G>T commonName R255L ALPL_c.815G>T phenoCommon perinatal hypophosphatasia ALPL_c.815G>T protEffect p.R272L ALPL_c.815G>A commonName R255H ALPL_c.815G>A phenoCommon infantile hypophosphatasia ALPL_c.815G>A protEffect p.R272H ALPL_c.824T>C commonName L258P ALPL_c.824T>C phenoCommon childhood hypophosphatasia ALPL_c.824T>C protEffect p.L275P ALPL_c.853_854insGATC commonName Y268X ALPL_c.853_854insGATC phenoCommon perinatal hypophosphatasia ALPL_c.853_854insGATC protEffect p.Y285X ALPL_c.862+5G>A commonName ALPL_c.862+5G>A phenoCommon infantile hypophosphatasia ALPL_c.862+5G>A protEffect ALPL_c.865C>T commonName L272F ALPL_c.865C>T phenoCommon infantile hypophosphatasia ALPL_c.865C>T protEffect p.L289F ALPL_c.871G>A commonName E274K ALPL_c.871G>A phenoCommon infantile hypophosphatasia ALPL_c.871G>A protEffect p.E291K ALPL_c.871G>T commonName E274X ALPL_c.871G>T phenoCommon perinatal hypophosphatasia ALPL_c.871G>T protEffect p.E291X ALPL_c.871G>C commonName E274Q ALPL_c.871G>C phenoCommon perinatal hypophosphatasia ALPL_c.871G>C protEffect p.E291Q ALPL_c.874C>A commonName P275T ALPL_c.874C>A phenoCommon infantile hypophosphatasia ALPL_c.874C>A protEffect p.P292T ALPL_c.876_881delAGGGGA commonName G276_D277del ALPL_c.876_881delAGGGGA phenoCommon perinatal hypophosphatasia ALPL_c.876_881delAGGGGA protEffect p.G293_D294del ALPL_c.880G>T commonName D277Y ALPL_c.880G>T phenoCommon infantile hypophosphatasia ALPL_c.880G>T protEffect p.D294Y ALPL_c.881A>C commonName D277A ALPL_c.881A>C phenoCommon infantile hypophosphatasia ALPL_c.881A>C protEffect p.D294A ALPL_c.883A>G commonName M278V ALPL_c.883A>G phenoCommon childhood hypophosphatasia ALPL_c.883A>G protEffect p.M295V ALPL_c.884T>C commonName M278T ALPL_c.884T>C phenoCommon perinatal hypophosphatasia ALPL_c.884T>C protEffect p.M295T ALPL_c.885G>A commonName M278I ALPL_c.885G>A phenoCommon perinatal hypophosphatasia ALPL_c.885G>A protEffect p.M295I ALPL_c.886C>T commonName Q279X ALPL_c.886C>T phenoCommon adult hypophosphatasia ALPL_c.886C>T protEffect p.Q296X ALPL_c.889T>G commonName Y280D ALPL_c.889T>G phenoCommon childhood hypophosphatasia ALPL_c.889T>G protEffect p.Y297D ALPL_c.889T>C commonName Y280H ALPL_c.889T>C phenoCommon perinatal hypophosphatasia ALPL_c.889T>C protEffect p.Y297H ALPL_c.891C>A commonName Y280X ALPL_c.891C>A phenoCommon Infantile hypophosphatasia ALPL_c.891C>A protEffect p.Y297X ALPL_c.892G>A commonName E281K ALPL_c.892G>A phenoCommon infantile hypophosphatasia ALPL_c.892G>A protEffect p.E298K ALPL_c.896T>C commonName L282P ALPL_c.896T>C phenoCommon infantile hypophosphatasia ALPL_c.896T>C protEffect p.L299P ALPL_c.917A>T commonName D289V ALPL_c.917A>T phenoCommon infantile hypophosphatasia ALPL_c.917A>T protEffect p.D306V ALPL_c.919C>T commonName P290S ALPL_c.919C>T phenoCommon infantile hypophosphatasia ALPL_c.919C>T protEffect p.P307S ALPL_c.920C>T commonName P290L ALPL_c.920C>T phenoCommon childhood hypophosphatasia ALPL_c.920C>T protEffect p.P307L ALPL_c.928_929delTC commonName ALPL_c.928_929delTC phenoCommon perinatal hypophosphatasia ALPL_c.928_929delTC protEffect p.S310RfsX27 ALPL_c.931G>A commonName E294K ALPL_c.931G>A phenoCommon perinatal hypophosphatasia ALPL_c.931G>A protEffect p.E311K ALPL_c.952C>T commonName Q301X ALPL_c.952C>T phenoCommon perinatal hypophosphatasia ALPL_c.952C>T protEffect p.Q318X ALPL_c.963delG commonName ALPL_c.963delG phenoCommon perinatal hypophosphatasia ALPL_c.963delG protEffect p.K322RfsX44 ALPL_c.969C>G commonName N306K ALPL_c.969C>G phenoCommon childhood hypophosphatasia ALPL_c.969C>G protEffect p.N323K ALPL_c.976G>C commonName G309R ALPL_c.976G>C phenoCommon perinatal hypophosphatasia ALPL_c.976G>C protEffect p.G326R ALPL_c.977G>T commonName G309V ALPL_c.977G>T phenoCommon perinatal hypophosphatasia ALPL_c.977G>T protEffect p.G326V ALPL_c.984_986delCTT commonName F310del ALPL_c.984_986delCTT phenoCommon infantile hypophosphatasia ALPL_c.984_986delCTT protEffect p.F328del ALPL_c.979T>G commonName F310C ALPL_c.979T>G phenoCommon perinatal hypophosphatasia ALPL_c.979T>G protEffect p.F327C ALPL_c.979_980delinsGG commonName F310G ALPL_c.979_980delinsGG phenoCommon adult hypophosphatasia ALPL_c.979_980delinsGG protEffect p.F327G ALPL_c.979T>C commonName F310L ALPL_c.979T>C phenoCommon infantile hypophosphatasia ALPL_c.979T>C protEffect p.F327L ALPL_c.982T>C commonName F311L ALPL_c.982T>C phenoCommon perinatal non-lethal hypophosphatasia ALPL_c.982T>C protEffect p.F328L ALPL_c.997+1G>T commonName ALPL_c.997+1G>T phenoCommon odonto hypophosphatasia ALPL_c.997+1G>T protEffect ALPL_c.997+2T>A commonName ALPL_c.997+2T>A phenoCommon perinatal hypophosphatasia ALPL_c.997+2T>A protEffect ALPL_c.997+2T>G commonName ALPL_c.997+2T>G phenoCommon perinatal hypophosphatasia ALPL_c.997+2T>G protEffect ALPL_c.997+3A>C commonName ALPL_c.997+3A>C phenoCommon perinatal hypophosphatasia ALPL_c.997+3A>C protEffect ALPL_c.997+3A>G commonName ALPL_c.997+3A>G phenoCommon prenatal benign hypophosphatasia ALPL_c.997+3A>G protEffect ALPL_c.998-1G>T commonName ALPL_c.998-1G>T phenoCommon perinatal hypophosphatasia ALPL_c.998-1G>T protEffect ALPL_c.1000G>C commonName G317R ALPL_c.1000G>C phenoCommon odonto hypophosphatasia ALPL_c.1000G>C protEffect p.G334R ALPL_c.1001G>A commonName G317D ALPL_c.1001G>A phenoCommon perinatal hypophosphatasia ALPL_c.1001G>A protEffect p.G334D ALPL_c.1015G>A commonName G322R ALPL_c.1015G>A phenoCommon perinatal hypophosphatasia ALPL_c.1015G>A protEffect p.G339R ALPL_c.1015G>C commonName G322R ALPL_c.1015G>C phenoCommon adult hypophosphatasia ALPL_c.1015G>C protEffect p.G339R ALPL_c.1016G>A commonName G322E ALPL_c.1016G>A phenoCommon infantile hypophosphatasia ALPL_c.1016G>A protEffect p.G339E ALPL_c.1042G>A commonName A331T ALPL_c.1042G>A phenoCommon infantile hypophosphatasia ALPL_c.1042G>A protEffect p.A348T ALPL_c.1044_1055del12 commonName L332_A335del ALPL_c.1044_1055del12 phenoCommon perinatal hypophosphatasia ALPL_c.1044_1055del12 protEffect p.L349_A352del ALPL_c.1062G>C commonName E337D ALPL_c.1062G>C phenoCommon perinatal hypophosphatasia ALPL_c.1062G>C protEffect p.E354D ALPL_c.1064T>C commonName M338T ALPL_c.1064T>C phenoCommon perinatal hypophosphatasia ALPL_c.1064T>C protEffect p.M355T ALPL_c.1065G>A commonName M338I ALPL_c.1065G>A phenoCommon infantile hypophosphatasia ALPL_c.1065G>A protEffect p.M355I ALPL_c.1068C>A commonName D339E ALPL_c.1068C>A phenoCommon perinatal hypophosphatasia ALPL_c.1068C>A protEffect p.D356E ALPL_c.1101_1103delCTC commonName S351del ALPL_c.1101_1103delCTC phenoCommon perinatal hypophosphatasia ALPL_c.1101_1103delCTC protEffect p.S368del ALPL_c.1112C>T commonName T354I ALPL_c.1112C>T phenoCommon infantile hypophosphatasia ALPL_c.1112C>T protEffect p.T371I ALPL_c.1120G>A commonName V357M ALPL_c.1120G>A phenoCommon adult hypophosphatasia ALPL_c.1120G>A protEffect p.V374M ALPL_c.1130C>T commonName A360V ALPL_c.1130C>T phenoCommon perinatal hypophosphatasia ALPL_c.1130C>T protEffect p.A377V ALPL_c.1132G>T commonName D361Y ALPL_c.1132G>T phenoCommon odonto. hypophosphatasia ALPL_c.1132G>T protEffect p.D378Y ALPL_c.1133A>T commonName D361V ALPL_c.1133A>T phenoCommon infantile hypophosphatasia ALPL_c.1133A>T protEffect p.D378V ALPL_c.1142A>G commonName H364R ALPL_c.1142A>G phenoCommon infantile hypophosphatasia ALPL_c.1142A>G protEffect p.H381R ALPL_c.1144G>A commonName V365I ALPL_c.1144G>A phenoCommon childhood hypophosphatasia ALPL_c.1144G>A protEffect p.V382I ALPL_c.1162T>C commonName Y371H ALPL_c.1162T>C phenoCommon odonto hypophosphatasia ALPL_c.1162T>C protEffect p.Y388H ALPL_c.1166C>T commonName T372I ALPL_c.1166C>T phenoCommon perinatal hypophosphatasia ALPL_c.1166C>T protEffect p.T389I ALPL_c.1171C>T commonName R374C ALPL_c.1171C>T phenoCommon childhood hypophosphatasia ALPL_c.1171C>T protEffect p.R391C ALPL_c.1172G>A commonName R374H ALPL_c.1172G>A phenoCommon childhood hypophosphatasia ALPL_c.1172G>A protEffect p.R391H ALPL_c.1171delC commonName ALPL_c.1171delC phenoCommon infantile hypophosphatasia ALPL_c.1171delC protEffect p.R391VfsX12 ALPL_c.1175G>C commonName G375A ALPL_c.1175G>C phenoCommon perinatal hypophosphatasia ALPL_c.1175G>C protEffect p.G392A ALPL_c.1181_1182delCT commonName frameshift ALPL_c.1181_1182delCT phenoCommon prenatal benign hypophosphatasia ALPL_c.1181_1182delCT protEffect frameshift ALPL_c.1183A>G commonName I378V ALPL_c.1183A>G phenoCommon prenatal benign hypophosphatasia ALPL_c.1183A>G protEffect p.I395V ALPL_c.1184T>C commonName I378T ALPL_c.1184T>C phenoCommon perinatal hypophosphatasia ALPL_c.1184T>C protEffect p.I395T ALPL_c.1195G>T commonName A382S ALPL_c.1195G>T phenoCommon adult hypophosphatasia ALPL_c.1195G>T protEffect p.A399S ALPL_c.1196C>T commonName A382V ALPL_c.1196C>T phenoCommon adult hypophosphatasia ALPL_c.1196C>T protEffect p.A399V ALPL_c.1199C>T commonName P383L ALPL_c.1199C>T phenoCommon infantile hypophosphatasia ALPL_c.1199C>T protEffect p.P400L ALPL_c.1214_1215delCA commonName ALPL_c.1214_1215delCA phenoCommon adult hypophosphatasia ALPL_c.1214_1215delCA protEffect p.T405RfsX22 ALPL_c.1216_1219delGACA commonName ALPL_c.1216_1219delGACA phenoCommon perinatal hypophosphatasia ALPL_c.1216_1219delGACA protEffect p.D406RfsX77 ALPL_c.1216G>A commonName D389N ALPL_c.1216G>A phenoCommon perinatal hypophosphatasia ALPL_c.1216G>A protEffect p.D406N ALPL_c.1217A>G commonName D389G ALPL_c.1217A>G phenoCommon odonto. hypophosphatasia ALPL_c.1217A>G protEffect p.D406G ALPL_c.1228T>C commonName F393L ALPL_c.1228T>C phenoCommon infantile hypophosphatasia ALPL_c.1228T>C protEffect p.F410L ALPL_c.1231A>G commonName T394A ALPL_c.1231A>G phenoCommon perinatal hypophosphatasia ALPL_c.1231A>G protEffect p.T411A ALPL_c.1240C>A commonName L397M ALPL_c.1240C>A phenoCommon perinatal hypophosphatasia ALPL_c.1240C>A protEffect p.L414M ALPL_c.1250A>G commonName N400S ALPL_c.1250A>G phenoCommon perinatal hypophosphatasia ALPL_c.1250A>G protEffect p.N417S ALPL_c.1256delC commonName ALPL_c.1256delC phenoCommon perinatal hypophosphatasia ALPL_c.1256delC protEffect p.P419LfsX65 ALPL_c.1258G>A commonName G403S ALPL_c.1258G>A phenoCommon perinatal hypophosphatasia ALPL_c.1258G>A protEffect p.G420S ALPL_c.1259G>C commonName G403A ALPL_c.1259G>C phenoCommon childhood hypophosphatasia ALPL_c.1259G>C protEffect p.G420A ALPL_c.1268T>C commonName V406A ALPL_c.1268T>C phenoCommon perinatal hypophosphatasia ALPL_c.1268T>C protEffect p.V423A ALPL_c.1270G>A commonName V407M ALPL_c.1270G>A phenoCommon adult hypophosphatasia ALPL_c.1270G>A protEffect p.V424M ALPL_c.1276G>T commonName G409C ALPL_c.1276G>T phenoCommon infantile hypophosphatasia ALPL_c.1276G>T protEffect p.G426C ALPL_c.1276G>A commonName G409S ALPL_c.1276G>A phenoCommon infantile hypophosphatasia ALPL_c.1276G>A protEffect p.G426S ALPL_c.1277G>A commonName G409D ALPL_c.1277G>A phenoCommon childhood hypophosphatasia ALPL_c.1277G>A protEffect p.G426D ALPL_c.1282C>T commonName R411X ALPL_c.1282C>T phenoCommon perinatal hypophosphatasia ALPL_c.1282C>T protEffect p.R428X ALPL_c.1283G>C commonName R411P ALPL_c.1283G>C phenoCommon perinatal hypophosphatasia ALPL_c.1283G>C protEffect p.R428P ALPL_c.1283G>A commonName R411Q ALPL_c.1283G>A phenoCommon prenatal benign hypophosphatasia ALPL_c.1283G>A protEffect p.R428Q ALPL_c.1283G>T commonName p.R411L ALPL_c.1283G>T phenoCommon adult hypophosphatasia ALPL_c.1283G>T protEffect p.R428L ALPL_c.1285G>A commonName E412K ALPL_c.1285G>A phenoCommon odonto. hypophosphatasia ALPL_c.1285G>A protEffect p.E429K ALPL_c.1306T>C commonName Y419H ALPL_c.1306T>C phenoCommon childhood hypophosphatasia ALPL_c.1306T>C protEffect p.Y436H ALPL_c.1313A>T commonName H421L ALPL_c.1313A>T phenoCommon infantile hypophosphatasia ALPL_c.1313A>T protEffect p.H438L ALPL_c.1328C>T commonName A426V ALPL_c.1328C>T phenoCommon adult hypophosphatasia ALPL_c.1328C>T protEffect p.A443V ALPL_c.1333T>C commonName S428P ALPL_c.1333T>C phenoCommon infantile hypophosphatasia ALPL_c.1333T>C protEffect p.S445P ALPL_c.1349G>A commonName R433H ALPL_c.1349G>A phenoCommon odonto. hypophosphatasia ALPL_c.1349G>A protEffect p.R450H ALPL_c.1348C>T commonName R433C ALPL_c.1348C>T phenoCommon infantile hypophosphatasia ALPL_c.1348C>T protEffect p.R450C ALPL_c.1354G>A commonName E435K ALPL_c.1354G>A phenoCommon perinatal hypophosphatasia ALPL_c.1354G>A protEffect p.E452K ALPL_c.1361A>G commonName H437R ALPL_c.1361A>G phenoCommon childhood hypophosphatasia ALPL_c.1361A>G protEffect p.H454R ALPL_c.1363G>A commonName G438S ALPL_c.1363G>A phenoCommon adult hypophosphatasia ALPL_c.1363G>A protEffect p.G455S ALPL_c.1364G>A commonName G438D ALPL_c.1364G>A phenoCommon perinatal hypophosphatasia ALPL_c.1364G>A protEffect p.G455D ALPL_c.1366G>T commonName G439W ALPL_c.1366G>T phenoCommon childhood hypophosphatasia ALPL_c.1366G>T protEffect p.G456W ALPL_c.1366G>A commonName G439R ALPL_c.1366G>A phenoCommon infantile hypophosphatasia ALPL_c.1366G>A protEffect p.G456R ALPL_c.1372G>A commonName D441N ALPL_c.1372G>A phenoCommon adult hypophosphatasia ALPL_c.1372G>A protEffect p.D458N ALPL_c.1373A>G commonName D441G ALPL_c.1373A>G phenoCommon infantile hypophosphatasia ALPL_c.1373A>G protEffect p.D458G ALPL_c.1375G>A commonName V442M ALPL_c.1375G>A phenoCommon infantile hypophosphatasia ALPL_c.1375G>A protEffect p.V459M ALPL_c.1375G>T commonName V442L ALPL_c.1375G>T phenoCommon perinatal hypophosphatasia ALPL_c.1375G>T protEffect p.V459L ALPL_c.1397C>T commonName P449L ALPL_c.1397C>T phenoCommon perinatal hypophosphatasia ALPL_c.1397C>T protEffect p.P466L ALPL_c.1400T>C commonName M450T ALPL_c.1400T>C phenoCommon infantile hypophosphatasia ALPL_c.1400T>C protEffect p.M467T ALPL_c.1402G>A commonName A451T ALPL_c.1402G>A phenoCommon perinatal hypophosphatasia ALPL_c.1402G>A protEffect p.A468T ALPL_c.1412_1429del18 commonName L454_E459del ALPL_c.1412_1429del18 phenoCommon adult hypophosphatasia ALPL_c.1412_1429del18 protEffect p.L471_E476del ALPL_c.1414C>T commonName H455Y ALPL_c.1414C>T phenoCommon perinatal hypophosphatasia ALPL_c.1414C>T protEffect p.H472Y ALPL_c.1417G>A commonName G456S ALPL_c.1417G>A phenoCommon perinatal hypophosphatasia ALPL_c.1417G>A protEffect p.G473S ALPL_c.1426G>A commonName E459K ALPL_c.1426G>A phenoCommon perinatal hypophosphatasia ALPL_c.1426G>A protEffect p.E476K ALPL_c.1427A>G commonName E459G ALPL_c.1427A>G phenoCommon perinatal hypophosphatasia ALPL_c.1427A>G protEffect p.E476G ALPL_c.1427A>C commonName E459A ALPL_c.1427A>C phenoCommon adult hypophosphatasia ALPL_c.1427A>C protEffect p.E476A ALPL_c.1433A>T commonName N461I ALPL_c.1433A>T phenoCommon childhood hypophosphatasia ALPL_c.1433A>T protEffect p.N478I ALPL_c.1444_1445insC commonName ALPL_c.1444_1445insC phenoCommon perinatal hypophosphatasia ALPL_c.1444_1445insC protEffect p.H482Pfs ALPL_c.1466G>C commonName C472S ALPL_c.1466G>C phenoCommon perinatal hypophosphatasia ALPL_c.1466G>C protEffect p.C489S ALPL_c.1468A>T commonName I473F ALPL_c.1468A>T phenoCommon adult hypophosphatasia ALPL_c.1468A>T protEffect p.I490F ALPL_c.1471G>A commonName G474R ALPL_c.1471G>A phenoCommon perinatal hypophosphatasia ALPL_c.1471G>A protEffect p.G491R ALPL_c.1474delG commonName ALPL_c.1474delG phenoCommon odonto hypophosphatasia ALPL_c.1474delG protEffect p.A492PfsX29 ALPL_c.1553_1569del17 commonName ALPL_c.1553_1569del17 phenoCommon perinatal hypophosphatasia ALPL_c.1553_1569del17 protEffect p.Y518Ffs ALPL_c.1559delT commonName ALPL_c.1559delT phenoCommon infantile hypophosphatasia ALPL_c.1559delT protEffect p.L520RfsX86 MMR_c.-42C>T commonName c.-42C>T MMR_c.-28A>G commonName c.-28A>G MMR_c.-28A>T commonName c.-28A>T MMR_c.-7C>T commonName c.-7C>T MMR_c.1-?_116+?del commonName c.1-?_116+?del MMR_c.65G>C commonName c.65G>C MMR_c.1-?_207+?del commonName c.1-?_207+?del MMR_c.3G>A commonName c.3G>A MMR_c.116G>A commonName c.116G>A MMR_c.1-?_645+?dup commonName c.1-?_645+?dup MMR_c.1-?_2271+?del commonName c.1-?_2271+?del MMR_c.69A>T commonName c.69A>T MMR_c.73A>T commonName c.73A>T MMR_c.74T>C commonName c.74T>C MMR_c.83C>T commonName c.83C>T MMR_c.85G>T commonName c.85G>T MMR_c.104T>G commonName c.104T>G MMR_c.112A>G commonName c.112A>G MMR_c.31delC commonName c.31delC MMR_c.2T>G commonName c.2T>G MMR_c.91_92delGCinsTG commonName c.91_92delGCinsTG MMR_c.1-?_116+?dup commonName c.1-?_116+?dup MMR_complex_1 commonName c.[67G>A (+) 70delG] MMR_c.1-?_884+?del commonName c.1-?_884+?del MMR_c.2T>A commonName c.2T>A MMR_c.44dupT commonName c.44dupT MMR_c.76delC commonName c.76delC MMR_c.109G>T commonName c.109G>T MMR_c.1-?_1558+?del commonName c.1-?_1558+?del MMR_c.19_35delGTTATTCGGCGGCTGGA commonName c.19_35delGTTATTCGGCGGCTGGA MMR_c.381-415_453+733del commonName c.381-415_453+733del MMR_c.37delG commonName c.37delG MMR_c.67delG commonName c.67delG MMR_c.67G>T commonName c.67G>T MMR_c.1-?_306+?del commonName c.1-?_306+?del MMR_c.1-?_1731+?del commonName c.1-?_1731+?del MMR_c.131C>T commonName c.131C>T MMR_c.94A>G commonName c.94A>G MMR_c.1-?_545+?del commonName c.1-?_545+?del MMR_complex_2 commonName c.[1-?_1559+?del] + [1733A>G] MMR_c.9delC commonName c.9delC MMR_c.18_34del17 commonName c.18_34del17 MMR_c.38_39insCCCA commonName c.38_39insCCCA MMR_c.52delC commonName c.52delC MMR_c.55A>T commonName c.55A>T MMR_c.61delG commonName c.61delG MMR_c.62C>T commonName c.62C>T MMR_c.73delA commonName c.73delA MMR_c.76C>T commonName c.76C>T MMR_c.86C>G commonName c.86C>G MMR_c.101A>C commonName c.101A>C MMR_c.104_105delTGinsAC commonName c.104_105delTGinsAC MMR_c.102_103delGA commonName c.102_103delGA MMR_c.106_107insAA commonName c.106_107insAA MMR_c.112A>C commonName c.112A>C MMR_complex_3 commonName c.[104T>G(+)596_597delAG] MMR_complex_4 commonName c.[1-?_1731+?del; 1853A>G] MMR_c.15_28del14 commonName c.15_28del14 MMR_c.1-73960_2271+46597del177663 commonName c.1-73960_2271+46597del177663 MMR_c.114C>G commonName c.114C>G MMR_c.109G>A commonName c.109G>A MMR_c.107T>A commonName c.107T>A MMR_c.117-44_117-40delGAGTA commonName c.117-44_117-40delGAGTA MMR_c.116+1G>A commonName c.116+1G>A MMR_c.116+5G>C commonName c.116+5G>C MMR_c.117-11T>A commonName c.117-11T>A MMR_c.117-2A>T commonName c.117-2A>T MMR_c.200G>A commonName c.200G>A MMR_c.199G>T commonName c.199G>T MMR_c.199G>A commonName c.199G>A MMR_c.117-?_306+?dup commonName c.117-?_306+?dup MMR_c.187G>A commonName c.187G>A MMR_c.130T>G commonName c.130T>G MMR_c.161G>A commonName c.161G>A MMR_c.191A>G commonName c.191A>G MMR_c.202A>G commonName c.202A>G MMR_c.203T>A commonName c.203T>A MMR_c.206G>A commonName c.206G>A MMR_c.117-?_306+?del commonName c.117-?_306+?del MMR_c.131_132insAATC commonName c.131_132insAATC MMR_c.150dupT commonName c.150dupT MMR_c.184C>T commonName c.184C>T MMR_c.205delA commonName c.205delA MMR_c.146T>A commonName c.146T>A MMR_c.117-?_545+?del commonName c.117-?_545+?del MMR_c.117-?_207+?del commonName c.117-?_207+?del MMR_c.190_191delAA commonName c.190_191delAA MMR_c.161delG commonName c.161delG MMR_c.122A>G commonName c.122A>G MMR_c.129delA commonName c.129delA MMR_complex_5 commonName c.[131C>T(+)1321G>A] MMR_complex_6 commonName c.[131C>T]+[1321G>A] MMR_c.137G>T commonName c.137G>T MMR_c.156dupA commonName c.156dupA MMR_c.154A>T commonName c.154A>T MMR_c.157G>T commonName c.157G>T MMR_c.158A>C commonName c.158A>C MMR_c.169A>T commonName c.169A>T MMR_c.180G>A commonName c.180G>A MMR_c.184C>A commonName c.184C>A MMR_c.191dupA commonName c.191dupA MMR_c.194G>A commonName c.194G>A MMR_c.198C>T commonName c.198C>T MMR_c.205A>G commonName c.205A>G MMR_c.121G>C commonName c.121G>C MMR_c.154_157delAAAG commonName c.154_157delAAAG MMR_c.195delC commonName c.195delC MMR_complex_7 commonName c.[137G>T(+)1151T>A] MMR_c.207+571C>T commonName c.207+571C>T MMR_c.208-2A>G commonName c.208-2A>G MMR_c.208-1G>A commonName c.208-1G>A MMR_c.207+1G>A commonName c.207+1G>A MMR_c.207+1_207+2delGT commonName c.207+1_207+2delGT MMR_c.208-3C>G commonName c.208-3C>G MMR_c.208-2_209delAGAA commonName c.208-2_209delagAA MMR_c.207+2T>C commonName c.207+2T>C MMR_c.207+1G>T commonName c.207+1G>T MMR_c.211G>T commonName c.211G>T MMR_c.298C>T commonName c.298C>T MMR_c.208-?_453-?del commonName c.208-?_453-?del MMR_c.210_213delAGAA commonName c.210_213delAGAA MMR_c.230G>A commonName c.230G>A MMR_c.210A>C commonName c.210A>C MMR_c.213_215delAGA commonName c.213_215delAGA MMR_c.216T>C commonName c.216T>C MMR_c.211G>C commonName c.211G>C MMR_c.208-?_677+?del commonName c.208-?_677+?del MMR_c.211_213delGAA commonName c.211_213delGAA MMR_c.229T>C commonName c.229T>C MMR_c.238T>G commonName c.238T>G MMR_c.250A>G commonName c.250A>G MMR_c.277A>G commonName c.277A>G MMR_c.208-?_545+?del commonName c.208-?_545+?del MMR_c.307-?_453+?del commonName c.307-?_453+?del MMR_c.256C>T commonName c.256C>T MMR_c.304G>A commonName c.304G>A MMR_c.208-?_306+?dup commonName c.208-?_306+?dup MMR_c.245C>T commonName c.245C>T MMR_c.299G>C commonName c.299G>C MMR_c.306G>T commonName c.306G>T MMR_c.208-?_306+?del commonName c.208-?_306+?del MMR_c.231T>A commonName c.231T>A MMR_c.242C>T commonName c.242C>T MMR_c.231_232delTG commonName c.231_232delTG MMR_c.253C>T commonName c.253C>T MMR_c.261C>T commonName c.261C>T MMR_c.265G>T commonName c.265G>T MMR_c.272T>A commonName c.272T>A MMR_c.274G>C commonName c.274G>C MMR_c.283T>G commonName c.283T>G MMR_c.291T>A commonName c.291T>A MMR_c.293_304delGCTTTCGAGGTG commonName c.293_304delGCTTTCGAGGTG MMR_c.292G>A commonName c.292G>A MMR_c.301G>A commonName c.301G>A MMR_c.302G>A commonName c.302G>A MMR_c.307-1403A>T commonName c.307-1403A>T MMR_c.292G>C commonName c.292G>C MMR_c.261delC commonName c.261delC MMR_c.244dupA commonName c.244dupA MMR_c.297T>A commonName c.297T>A MMR_c.303T>G commonName c.303T>G MMR_c.306+3A>C commonName c.306+3A>C MMR_c.306+416A>C commonName c.306+416A>C MMR_c.307-19A>G commonName c.307-19A>G MMR_c.307-2A>C commonName c.307-2A>C MMR_c.307-29C>A commonName c.307-29C>A MMR_c.306+4A>G commonName c.306+4A>G MMR_c.306+1G>A commonName c.306+1G>A MMR_c.306+5G>A commonName c.306+5G>A MMR_c.307-1G>C commonName c.307-1G>C MMR_c.306+40G>A commonName c.306+40G>A MMR_c.306+2dupT commonName c.306+2dupT MMR_c.341delC commonName c.341delC MMR_c.320T>G commonName c.320T>G MMR_c.350C>G commonName c.350C>G MMR_c.350C>T commonName c.350C>T MMR_c.307-?_380+?del commonName c.307-?_380+?del MMR_c.356_357insAA commonName c.356_357insAA MMR_c.380G>A commonName c.380G>A MMR_c.318C>G commonName c.318C>G MMR_c.338T>A commonName c.338T>A MMR_c.375A>G commonName c.375A>G MMR_c.307-?_545+?del commonName c.307-?_545+?del MMR_c.347C>G commonName c.347C>G MMR_c.307-?_380+?dup commonName c.307-?_380+?dup MMR_c.378C>G commonName c.378C>G MMR_c.332C>T commonName c.332C>T MMR_c.646-?_1076+?dup commonName c.646-?_1076+?dup MMR_c.307-?_1038+?del commonName c.307-?_1038+?del MMR_c.307-?_2271+?del commonName c.307-?_2271+?del MMR_c.311T>A commonName c.311T>A MMR_c.327T>G commonName c.327T>G MMR_c.346delA commonName c.346delA MMR_complex_8 commonName c.[350C>T; 790C>T] MMR_c.354_355dupAA commonName c.354_355dupAA MMR_c.367A>T commonName c.367A>T MMR_c.378delC commonName c.378delC MMR_c.347C>A commonName c.347C>A MMR_c.376T>A commonName c.376T>A MMR_c.346dupA commonName c.346dupA MMR_c.359C>T commonName c.359C>T MMR_c.377A>G commonName c.377A>G MMR_c.307-797_677+1061del9557 commonName c.307-797_677+1061del9557 MMR_c.380+2T>A commonName c.380+2T>A MMR_c.380+2T>C commonName c.380+2T>C MMR_c.381-2A>G commonName c.381-2A>G MMR_c.381-1G>A commonName c.381-1G>A MMR_c.397G>T commonName c.397G>T MMR_c.381-41A>G commonName c.381-41A>G MMR_c.380+1G>A commonName c.380+1G>A MMR_c.436C>T commonName c.436C>T MMR_c.382G>C commonName c.382G>C MMR_c.385_386delAGinsGTT commonName c.385_386delAGinsGTT MMR_c.403C>G commonName c.403C>G MMR_c.394G>C commonName c.394G>C MMR_c.392C>A commonName c.392C>A MMR_c.421C>G commonName c.421C>G MMR_c.382delG commonName c.382delG MMR_c.428dupC commonName c.428dupC MMR_c.410C>T commonName c.410C>T MMR_c.445C>T commonName c.445C>T MMR_c.381-?_545+?del commonName c.381-?_545+?del MMR_c.382_402delGCAAGTTACTCAGATGGAAAAinsT commonName c.382_402delGCAAGTTACTCAGATGGAAAAinsT MMR_c.439G>C commonName c.439G>C MMR_c.447G>C commonName c.447G>C MMR_c.453+554C>T commonName c.453+554T>C MMR_c.454-1G>A commonName c.454-1G>A MMR_c.454-13A>G commonName c.454-13A>G MMR_c.453+1G>T commonName c.453+1G>T MMR_c.453+79A>G commonName c.453+79A>G MMR_c.453+2T>C commonName c.453+2T>C MMR_c.454-51T>C commonName c.454-51T>C MMR_c.454-1G>C commonName c.454-1G>C MMR_c.454-1G>T commonName c.454-1G>T MMR_c.453+9G>A commonName c.453+9G>A MMR_c.454-2A>G commonName c.454-2A>G MMR_c.503dupA commonName c.503dupA MMR_c.513delA commonName c.513delA MMR_c.464T>G commonName c.464T>G MMR_c.531_532delinsCT commonName c.531_532GG>CT MMR_c.544A>G commonName c.544A>G MMR_c.506C>T commonName c.506C>T MMR_c.454-?_1409+?dup commonName c.454-?_1409+?dup MMR_c.531_532delGGinsAT commonName c.531_532delGGinsAT MMR_c.472A>C commonName c.472A>C MMR_c.454-?_677+?dup commonName c.454-?_677+?dup MMR_c.479C>T commonName c.479C>T MMR_c.454-?_545+?del commonName c.454-?_545+?del MMR_c.469delT commonName c.469delT MMR_c.523_524insAG commonName c.523_524insAG MMR_c.539T>G commonName c.539T>G MMR_c.454-432_545+1885del commonName c.454-432_545+1885del MMR_complex_9 commonName c.[454-432_545+1885del]+[474C>T] MMR_c.474C>T commonName c.474C>T MMR_c.655A>G commonName c.655A>G MMR_c.488delG commonName c.488delG MMR_c.497T>A commonName c.497T>A MMR_c.502_503delAA commonName c.502_503delAA MMR_c.498A>C commonName c.498A>C MMR_c.468_469delTT commonName c.468_469delTT MMR_c.546-2A>G commonName c.546-2A>G MMR_c.546-2A>C commonName c.546-2A>C MMR_c.545+3A>G commonName c.545+3A>G MMR_c.545+43C>G commonName c.545+43C>G MMR_c.546-32T>C commonName c.546-32T>C MMR_c.545+72T>A commonName c.545+72T>A MMR_c.545+80T>A commonName c.545+80T>A MMR_c.545+1G>A commonName c.545+1G>A MMR_c.578C>G commonName c.578C>G MMR_c.546-?_884+?del commonName c.546-?_884+?del MMR_c.554T>G commonName c.554T>G MMR_c.546-?_790+?del commonName c.546-?_790+?del MMR_c.546-?_677+?del commonName c.546-?_677+?del MMR_c.1077-?_1276+?dup commonName c.1077-?_1276+?dup MMR_c.1077-?_1386+?dup commonName c.1077-?_1386+?dup MMR_c.577T>C commonName c.577T>C MMR_c.545-?_1409+?dup commonName c.545-?_1409+?dup MMR_c.553G>C commonName c.553G>C MMR_c.558C>T commonName c.558C>T MMR_c.586A>T commonName c.586A>T MMR_c.588dupA commonName c.588dupA MMR_c.588delA commonName c.588delA MMR_c.572G>T commonName c.572G>T MMR_c.589-2A>G commonName c.589-2A>G MMR_c.588+5G>C commonName c.588+5G>C MMR_c.588+3_588+6delAAGT commonName c.588+3_588+6delAAGT MMR_c.589-10T>A commonName c.589-10T>A MMR_c.588+5G>A commonName c.588+5G>A MMR_complex_10 commonName c.[588+11G>C(+)790+5G>T] MMR_c.589-15C>T commonName c.589-15T>C MMR_c.589-7_589-10delTGTT commonName c.589-7_589-10delTGTT MMR_c.588+1G>T commonName c.588+1G>T MMR_c.589-5_589-8delTTTA commonName c.589-5_589-8delTTTA MMR_c.588+1delG commonName c.588+1delG MMR_c.676C>T commonName c.676C>T MMR_c.637G>A commonName c.637G>A MMR_c.649C>T commonName c.649C>T MMR_c.655A>C commonName c.655A>C MMR_c.677G>A commonName c.677G>A MMR_c.677G>T commonName c.677G>T MMR_c.674delG commonName c.674delG MMR_c.454-?_677+?del commonName c.454-?_677+?del MMR_c.637G>T commonName c.637G>T MMR_c.665dupA commonName c.665dupA MMR_c.595G>C commonName c.595G>C MMR_c.597_598delGA commonName c.597_598delGA MMR_c.607G>A commonName c.607G>A MMR_c.632_633insT commonName c.632_633insT MMR_c.649delC commonName c.649delC MMR_c.665delA commonName c.665delA MMR_c.673_676delAGTC commonName c.673_676delAGTC MMR_c.644A>G commonName c.644A>G MMR_c.647T>G commonName c.647T>G MMR_complex_11 commonName c.[655A>G(+)677G>A] MMR_c.596_597delAG commonName c.596_597delAG MMR_complex_12 commonName c.[655A>G; 884+4A>G] MMR_complex_13 commonName c.[655A>G(+)676C>T(+)2146G>A] MMR_c.677+1G>T commonName c.677+1G>T MMR_c.677+1G>A commonName c.677+1G>A MMR_c.677+1delG commonName c.677+1delG MMR_c.677+3A>C commonName c.677+3A>C MMR_c.677+3A>G commonName c.677+3A>G MMR_c.677+4dupT commonName c.677+4dupT MMR_c.677+16delA commonName c.677+16delA MMR_c.678-3_678-2delTA commonName c.678-3_678-2delTA MMR_c.678-1G>C commonName c.678-1G>C MMR_c.678-1G>T commonName c.678-1G>T MMR_c.678-3T>A commonName c.678-3T>A MMR_c.790+4A>G commonName c.790+4A>G MMR_c.731G>A commonName c.731G>A MMR_c.739T>C commonName c.739T>C MMR_c.727_730delAATG commonName c.727_730delAATG MMR_c.678-?_1558-?del commonName c.678-?_1558-?del MMR_c.1387-?_1661+?dup commonName c.1387-?_1661+?dup MMR_c.678-?_884+?del commonName c.678-?_884+?del MMR_c.731G>T commonName c.731G>T MMR_c.755C>A commonName c.755C>A MMR_c.769delA commonName c.769delA MMR_c.683dupT commonName c.683dupT MMR_c.693T>C commonName c.693T>C MMR_c.693delT commonName c.693delT MMR_c.697T>C commonName c.697T>C MMR_c.701A>G commonName c.701A>G MMR_c.702G>A commonName c.702G>A MMR_c.717C>A commonName c.717C>A MMR_c.745dupG commonName c.745dupG MMR_c.765G>A commonName c.765G>A MMR_c.776T>C commonName c.776T>C MMR_c.778C>T commonName c.778C>T MMR_c.779T>G commonName c.779T>G MMR_c.784_786delATC commonName c.784_786delATC MMR_c.753C>T commonName c.753C>T MMR_c.791-5T>G commonName c.791-5T>G MMR_c.790+10A>G commonName c.790+10A>G MMR_c.791-1406C>T commonName c.791-1406C>T MMR_c.790+1G>A commonName c.790+1G>A MMR_c.790+2T>A commonName c.790+2T>A MMR_c.790+955C>A commonName c.790+955C>A MMR_c.790+1G>C commonName c.790+1G>C MMR_c.790+2dupT commonName c.790+2dupT MMR_c.790+2T>C commonName c.790+2T>C MMR_c.790+3A>T commonName c.790+3A>T MMR_c.791-34G>A commonName c.791-34G>A MMR_c.791-2A>G commonName c.791-2A>G MMR_c.791-1G>C commonName c.791-1G>C MMR_c.791-1G>T commonName c.791-1G>T MMR_c.790+62G>A commonName c.790+62G>A MMR_c.791-23delG commonName c.791-23delG MMR_c.790+1delG commonName c.790+1delG MMR_c.790+2_+3insT commonName c.790+2_+3insT MMR_c.791_794delATCG commonName c.791_794delATCG MMR_c.821_824dupAAGC commonName c.821_824dupAAGC MMR_c.840T>A commonName c.840T>A MMR_c.794G>A commonName c.794G>A MMR_c.883A>G commonName c.883A>G MMR_c.793C>T commonName c.793C>T MMR_c.851T>A commonName c.851T>A MMR_c.872delT commonName c.872delT MMR_c.861C>T commonName c.861C>T MMR_c.860dupA commonName c.860dupA MMR_c.791-?_1558+?del commonName c.791-?_1558+?del MMR_c.791-?_884+?del commonName c.791-?_884+?del MMR_c.883_884+2delAGGT commonName c.883_884+2delAGGT MMR_c.883A>C commonName c.883A>C MMR_c.882C>T commonName c.882C>T MMR_c.859_860delAA commonName c.859_860delAA MMR_c.875T>C commonName c.875T>C MMR_c.1038G>C commonName c.1038G>C MMR_c.793C>A commonName c.793C>A MMR_c.842C>T commonName c.842C>T MMR_c.791A>G commonName c.791A>G MMR_c.803A>G commonName c.803A>G MMR_c.814T>G commonName c.814T>G MMR_c.856A>C commonName c.856A>C MMR_c.806C>G commonName c.806C>G MMR_c.808_811delACTT commonName c.808_811delACTT MMR_c.815T>C commonName c.815T>C MMR_c.845C>G commonName c.845C>G MMR_c.855C>T commonName c.855C>T MMR_c.856_857insT commonName c.856_857insT MMR_c.884G>A commonName c.884G>A MMR_c.884G>C commonName c.884G>C MMR_complex_14 commonName c.[794G>A(+)1989G>T] MMR_c.884+4A>G commonName c.884+4A>G MMR_c.885-24T>A commonName c.885-24T>A MMR_c.885-5G>T commonName c.885-5G>T MMR_c.884+3A>G commonName c.884+3A>G MMR_c.885-16_885-15delCT commonName c.885-16_885-15delCT MMR_c.885-2A>G commonName c.885-2A>G MMR_c.884+2T>C commonName c.884+2T>C MMR_c.1023delG commonName c.1023delG MMR_c.954delC commonName c.954delC MMR_c.977T>C commonName c.977T>C MMR_c.986A>C commonName c.986A>C MMR_c.988_990delATC commonName c.988_990delATC MMR_c.885-?_1731+?del commonName c.885-?_1731+?del MMR_c.987_989delCAT commonName c.987_989delCAT MMR_c.927C>T commonName c.927C>T MMR_c.1017delC commonName c.1017delC MMR_c.885-?_1038+?del commonName c.885-?_1038+?del MMR_c.1662-?_1759+?dup commonName c.1662-?_1759+?dup MMR_c.911A>T commonName c.911A>T MMR_c.885-597_1338+1120del commonName c.885-597_1338+1120del MMR_c.885-?_2271+?del commonName c.885-?_2271+?del MMR_c.887T>G commonName c.887T>G MMR_c.887dupT commonName c.887dupT MMR_c.888_889insTCCTGACAGTTT commonName c.888_889insTCCTGACAGTTT MMR_c.889G>T commonName c.889G>T MMR_c.901C>T commonName c.901C>T MMR_c.921_922dupGC commonName c.921_922dupGC MMR_c.935dupA commonName c.935dupA MMR_c.939dupA commonName c.939dupA MMR_c.955G>T commonName c.955G>T MMR_c.962G>T commonName c.962G>T MMR_c.971_979delAGCGGGTGC commonName c.971_979delAGCGGGTGC MMR_c.974G>A commonName c.974G>A MMR_c.994delA commonName c.994delA MMR_c.1007delG commonName c.1007delG MMR_c.1011delC commonName c.1011delC MMR_c.1011dupC commonName c.1011dupC MMR_c.1013A>G commonName c.1013A>G MMR_c.1037A>G commonName c.1037A>G MMR_c.1038G>A commonName c.1038G>A MMR_c.925C>T commonName c.925C>T MMR_c.888delA commonName c.888delA MMR_c.985C>A commonName c.985C>A MMR_c.960G>C commonName c.960G>C MMR_c.1003C>T commonName c.1003C>T MMR_c.1038G>T commonName c.1038G>T MMR_c.908T>A commonName c.908T>A MMR_c.949C>A commonName c.949C>A MMR_c.955G>A commonName c.955G>A MMR_c.1039-2A>T commonName c.1039-2A>T MMR_c.1038+86T>C commonName c.1038+86T>C MMR_c.1039-78A>G commonName c.1039-78A>G MMR_c.1038+1G>C commonName c.1038+1G>C MMR_c.1559-3171A>G commonName c.1559-3171A>G MMR_c.1038+9G>A commonName c.1038+9G>A MMR_c.1038+19C>T commonName c.1038+19C>T MMR_c.1038+51C>T commonName c.1038+51C>T MMR_c.1039-1G>A commonName c.1039-1G>A MMR_c.1039-1G>C commonName c.1039-1G>C MMR_c.1039-2A>G commonName c.1039-2A>G MMR_c.1068_1075delTGGGGAGA commonName c.1068_1075delTGGGGAGA MMR_c.1310delC commonName c.1310delC MMR_c.1217G>A commonName c.1217G>A MMR_c.1327A>C commonName c.1327A>C MMR_c.1343delA commonName c.1343delA MMR_c.1151T>A commonName c.1151T>A MMR_c.1039-?_1409+?del commonName c.1039-?_1409+?del MMR_c.1039-?_1558+?del commonName c.1039-?_1558+?del MMR_c.1190delT commonName c.1190delT MMR_c.1141C>T commonName c.1141C>T MMR_c.1058C>T commonName c.1058C>T MMR_c.1354delA commonName c.1354delA MMR_c.1334delA commonName c.1334delA MMR_c.1252_1253delGA commonName c.1252_1253delGA MMR_c.1321G>A commonName c.1321G>A MMR_c.1392T>C commonName c.1392T>C MMR_c.1360G>C commonName c.1360G>C MMR_c.1347_1368del22insTAAA commonName c.1347_1368del22insTAAA MMR_c.1210_1211delCT commonName c.1210_1211delCT MMR_c.1150delG commonName c.1150delG MMR_c.1304C>T commonName c.1304C>T MMR_c.1166G>A commonName c.1166G>A MMR_c.1238C>T commonName c.1238C>T MMR_c.1259C>G commonName c.1259C>G MMR_c.1056T>A commonName c.1056T>A MMR_c.1061delG commonName c.1061delG MMR_c.1090A>G commonName c.1090A>G MMR_c.1101delC commonName c.1101delC MMR_c.1127_1128dupAT commonName c.1127_1128dupAT MMR_c.1153C>T commonName c.1153C>T MMR_c.1154G>C commonName c.1154G>C MMR_c.1192C>T commonName c.1192C>T MMR_c.1198C>G commonName c.1198C>G MMR_c.1254T>G/A commonName c.1254T>G/A MMR_c.1261delA commonName c.1261delA MMR_c.1266C>T commonName c.1266C>T MMR_c.1276C>T commonName c.1276C>T MMR_c.1297G>C commonName c.1297G>C MMR_c.1380_1381insT commonName c.1380_1381insT MMR_c.1381A>T commonName c.1381A>T MMR_c.1383G>T/C commonName c.1383G>T/C MMR_c.1398delC commonName c.1398delC MMR_c.1406C>T commonName c.1406C>T MMR_c.1377dupA commonName c.1377dupA MMR_c.1225C>T commonName c.1225C>T MMR_c.1373T>A commonName c.1373T>A MMR_c.1402A>G commonName c.1402A>G MMR_c.1362dupG commonName c.1362dupG MMR_c.1046dupT commonName c.1046dupT MMR_c.1165C>T commonName c.1165C>T MMR_c.1246A>G commonName c.1246A>G MMR_c.1128T>C commonName c.1128T>C MMR_c.1409+1G>A commonName c.1409+1G>A MMR_c.1409+1G>C commonName c.1409+1G>C MMR_c.1410-55G>T commonName c.1410-55G>T MMR_c.1410-23G>T commonName c.1410-23G>T MMR_c.1410-54C>T commonName c.1410-54C>T MMR_c.1489dupC commonName c.1489dupC MMR_c.1534G>T commonName c.1534G>T MMR_c.1554dupT commonName c.1554dupT MMR_c.1410-?_1558+?del commonName c.1410-?_1558+?del MMR_c.1410_1413delAAAG commonName c.1410_1413delAAAG MMR_c.1410-?_2271+?del commonName c.1410-?_2271+?del MMR_c.1459C>T commonName c.1459C>T MMR_c.1463delA commonName c.1463delA MMR_c.1491delG commonName c.1491delG MMR_c.1413_1416delGAGA commonName c.1413_1416delGAGA MMR_c.1474G>A commonName c.1474G>A MMR_c.1517T>C commonName c.1517T>C MMR_c.1412dupA commonName c.1412dupA MMR_c.1487C>G commonName c.1487C>G MMR_c.1411_1414delAAGA commonName c.1411_1414delAAGA MMR_c.1421G>A commonName c.1421G>A MMR_c.1455T>A commonName c.1455T>A MMR_c.1487C>T commonName c.1487C>T MMR_c.1542dupT commonName c.1542dupT MMR_c.1528C>T commonName c.1528C>T MMR_c.1413G>A commonName c.1413G>A MMR_c.1520dupT commonName c.1520dupT MMR_c.1410-?_1731+?del commonName c.1410-?_1731+?del MMR_c.1414dupA commonName c.1414dupA MMR_c.1415G>T commonName c.1415G>T MMR_c.1420delC commonName c.1420delC MMR_c.1453G>C commonName c.1453G>C MMR_c.1471delA commonName c.1471delA MMR_c.1489delC commonName c.1489delC MMR_c.1489_1490ins11 commonName c.1489_1490ins11 MMR_c.1497delG commonName c.1497delG MMR_c.1499_1501delTCA commonName c.1499_1501delTCA MMR_c.1543G>A commonName c.1543G>A MMR_c.1549G>T commonName c.1549G>T MMR_c.1415_1416delGA commonName c.1415_1416delGA MMR_c.1525C>T commonName c.1525T>C MMR_c.1420C>T commonName c.1420C>T MMR_c.1558+14G>A commonName c.1558+14G>A MMR_c.1559-3C>G commonName c.1559-3C>G MMR_c.1558+4245A>G commonName c.1558+4245A>G MMR_c.1558+2T>G commonName c.1558+2T>G MMR_c.1558+1G>T commonName c.1558+1G>T MMR_c.1558+2204A>C commonName c.1558+2204A>C MMR_c.1558+?_1559-?del commonName c.1558+?_1559-?del MMR_c.1558+11G>A commonName c.1558+11G>A MMR_c.1558+13T>A commonName c.1558+13T>A MMR_c.1559-9dupG commonName c.1559-9dupG MMR_c.1559-2A>C commonName c.1559-2A>C MMR_c.1559-2A>G commonName c.1559-2A>G MMR_c.1559-2A>T commonName c.1559-2A>T MMR_c.1559-1G>A commonName c.1559-1G>A MMR_c.1559-1G>T commonName c.1559-1G>T MMR_c.1558+58G>A commonName c.1558+58G>A MMR_c.1559-1G>C commonName c.1559-1G>C MMR_c.1558+17G>A commonName c.1558+17G>A MMR_c.1561C>A commonName c.1561C>A MMR_c.1609C>T commonName c.1609C>T MMR_c.1622delC commonName c.1622delC MMR_c.1640T>A commonName c.1640T>A MMR_c.1649T>C commonName c.1649T>C MMR_c.1652A>C commonName c.1652A>C MMR_c.1666A>G commonName c.1666A>G MMR_c.1625A>T commonName c.1625A>T MMR_c.1559-?_1731+?del commonName c.1559-?_1731+?del MMR_c.1569G>T commonName c.1569G>T MMR_c.1591_1592delGT commonName c.1591_1592delGT MMR_c.1646T>C commonName c.1646T>C MMR_c.1559-?_1667+?del commonName c.1559-?_1667+?del MMR_c.1559-?_2271+?del commonName c.1559-?_2271+?del MMR_c.1565G>T commonName c.1565G>T MMR_c.1564C>T commonName c.1564C>T MMR_c.1573T>C commonName c.1573T>C MMR_c.1573_1574delTT commonName c.1573_1574delTT MMR_c.1576C>T commonName c.1576C>T MMR_c.1596C>T commonName c.1596C>T MMR_c.1620_1621delGG commonName c.1620_1621delGG MMR_c.1625A>C commonName c.1625A>C MMR_c.1630C>T commonName c.1630C>T MMR_c.1644C>G commonName c.1644C>G MMR_c.1658_1660delCCA commonName c.1658_1660delCCA MMR_c.1664_1665insAAGT commonName c.1664_1665insAAGT MMR_c.1667G>T commonName c.1667G>T MMR_c.1624C>T commonName c.1624C>T MMR_c.1633A>G commonName c.1633A>G MMR_c.1656_1658delCAC commonName c.1656_1658delCAC MMR_c.1614G>A commonName c.1614G>A MMR_c.1616C>A commonName c.1616C>A MMR_c.1668-19A>G commonName c.1668-19A>G MMR_c.1668-885T>C commonName c.1668-885T>C MMR_c.1668-3C>A commonName c.1668-3C>A MMR_c.1668-3C>T commonName c.1668-3C>T MMR_c.1668-1G>A commonName c.1668-1G>A MMR_c.1731G>A commonName c.1731G>A MMR_c.1672G>T commonName c.1672G>T MMR_c.1676T>G commonName c.1676T>G MMR_c.1669G>T commonName c.1669G>T MMR_c.1668-?_1734+?del commonName c.1668-?_1734+?del MMR_c.1683C>G commonName c.1683C>G MMR_c.1721T>C commonName c.1721T>C MMR_c.1725delG commonName c.1725delG MMR_c.1684C>T commonName c.1684C>T MMR_complex_15 commonName c.[1668-?_1734+?del; 1853A>G] MMR_c.2459-?_2634+?dup commonName c.2459-?_2634+?dup MMR_c.1693A>T commonName c.1693A>T MMR_c.1733A>G commonName c.1733A>G MMR_c.1744C>G commonName c.1744C>G MMR_c.1668-?_1896+?del commonName c.1668-?_1896+?del MMR_c.1689dupA commonName c.1689dupA MMR_c.1717_1718delGT commonName c.1717_1718delGT MMR_c.1711T>C commonName c.1711T>C MMR_c.1681T>C commonName c.1681T>C MMR_c.1702T>A commonName c.1702T>A MMR_c.1690_1693delCTCA commonName c.1690_1693delCTCA MMR_c.1731+5G>A commonName c.1731+5G>A MMR_c.1731+3A>T commonName c.1731+3A>T MMR_c.1732-2A>T commonName c.1732-2A>T MMR_c.1731+1G>A commonName c.1731+1G>A MMR_c.1731+1G>C commonName c.1731+1G>C MMR_c1732-5T>C commonName c1732-5T>C MMR_c.1732-1G>A commonName c.1732-1G>A MMR_c.1732-20A>G commonName c.1732-20A>G MMR_c.1731+2T>G commonName c.1731+2T>G MMR_c.1732-9T>C commonName c.1732-9T>C MMR_c.1783_1784delAG commonName c.1783_1784delAG MMR_c.1852_1854delAAG commonName c.1852_1854delAAG MMR_c.1852_1853delAAinsGC commonName c.1852_1853delAAinsGC MMR_c.1778_1779delCA commonName c.1778_1779delCA MMR_c.1766C>A commonName c.1766C>A MMR_c.1835_1837delTTG commonName c.1835_1837delTTG MMR_c.1732-?_1896+?del commonName c.1732-?_1896+?del MMR_c.1742C>T commonName c.1742C>T MMR_c.1790G>A commonName c.1790G>A MMR_c.1831_1832delAT commonName c.1831_1832delAT MMR_c.1732-?_2271+?del commonName c.1732-?_2271+?del MMR_c.1851_1853delGAA commonName c.1851_1853delGAA MMR_c.1757C>A commonName c.1757C>A MMR_c.1855delG commonName c.1855delG MMR_c.1769_1772delTAGA commonName c.1769_1772delTAGA MMR_c.1758dupC commonName c.1758dupC MMR_c.1884_1888delGGAAA commonName c.1884_1888delGGAAA MMR_c.1853A>C commonName c.1853A>C MMR_c.1852_1853delinsGC commonName c.1852_1853AA>GCc.1852_1853delAAinsGC MMR_c.1749delT commonName c.1749delT MMR_c.1834_1836delGTT commonName c.1834_1836delGTT MMR_c.1878C>T commonName c.1878C>T MMR_c.1756G>C commonName c.1756G>C MMR_c.1763T>C commonName c.1763T>C MMR_c.1808C>G commonName c.1808C>G MMR_c.1820T>A commonName c.1820T>A MMR_c.1865T>A commonName c.1865T>A MMR_c.1865T>C commonName c.1865T>C MMR_c.1875T>G commonName c.1875T>G MMR_complex_16 commonName c.[1-?_1559+?del (+) 1733A>G] MMR_c.1744C>T commonName c.1744C>T MMR_c.1757_1758insT commonName c.1757_1758insT MMR_c.1758delC commonName c.1758delC MMR_c.1764delT commonName c.1764delT MMR_c.1769delT commonName c.1769delT MMR_c.1772_1775delATAG commonName c.1772_1775delATAG MMR_c.1802A>G commonName c.1802A>G MMR_c.1810A>T commonName c.1810A>T MMR_c.1812dupA commonName c.1812dupA MMR_c.1946_1948delCTT commonName c.1946_1948delCTT MMR_c.1852A>G commonName c.1852A>G MMR_c.1852A>T commonName c.1852A>T MMR_complex_17 commonName c.[790+3A>T (+) c.1852_1853delAAinsGC] MMR_complex_18 commonName c.[1852_1853delAAinsGC; 2146G>A] MMR_c.1853A>G commonName c.1853A>G MMR_c.1877delT commonName c.1877delT MMR_complex_19 commonName c.[1877T>C (+) 1879T>A] MMR_c.1877_1883delTCTCTTT commonName c.1877_1883delTCTCTTT MMR_c.1892A>C commonName c.1892A>C MMR_c.1896G>A commonName c.1896G>A MMR_c.1896delG commonName c.1896delG MMR_c.1745T>C commonName c.1745T>C MMR_c.1879_1882delTCTT commonName c.1879_1882delTCTT MMR_c.1846_1848delAAG commonName c.1846_1848delAAG MMR_c.1799A>G commonName c.1799A>G MMR_c.1759A>G commonName c.1759A>G MMR_c.1788C>T commonName c.1788C>T MMR_c.1823C>A commonName c.1823C>A MMR_c.1754T>G commonName c.1754T>G MMR_c.1855G>C commonName c.1855G>C MMR_c.1896+1G>A commonName c.1896+1G>A MMR_c.1896+1G>T commonName c.1896+1G>T MMR_c.1896+1delG commonName c.1896+1delG MMR_c.1896+2T>C commonName c.1896+2T>C MMR_c.1896+36T>C commonName c.1896+36C>T MMR_c.1897-2A>G commonName c.1897-2A>G MMR_c.1897-1G>A commonName c.1897-1G>A MMR_c.1975C>T commonName c.1975C>T MMR_c.1976G>C commonName c.1976G>C MMR_c.1937A>G commonName c.1937A>G MMR_c.1943C>T commonName c.1943C>T MMR_c.1942C>T commonName c.1942C>T MMR_c.1961C>T commonName c.1961C>T MMR_c.1976G>A commonName c.1976G>A MMR_c.1946delC commonName c.1946delC MMR_c.1918C>T commonName c.1918C>T MMR_c.1963A>G commonName c.1963A>G MMR_c.1897delG commonName c.1897delG MMR_c.1964T>C commonName c.1964T>C MMR_complex_20 commonName c.[1984A>C (+) 1653C>T (+) 1959G>T] MMR_c.1986_1989+1delinsC commonName c.1986_1989+1TGAGG>C MMR_c.1959G>T commonName c.1959G>T MMR_c.1989G>T commonName c.1989G>T MMR_c.1976_1977delGA commonName c.1976_1977delGA MMR_c.1953_1956delGGGA commonName c.1953_1956delGGGA MMR_c.1897-?_1989+?del commonName c.1897-?_1989+?del MMR_c.1904A>G commonName c.1904A>G MMR_c.1958T>G commonName c.1958T>G MMR_c.1939G>A commonName c.1939G>A MMR_c.1897-3_1904delCAGGAAGGGAA commonName c.1897-3_1904delCAGGAAGGGAA MMR_c.1989G>A commonName c.1989G>A MMR_c.1900G>A commonName c.1900G>A MMR_c.1905C>G commonName c.1905C>G MMR_c.1907T>C commonName c.1907T>C MMR_c.1916T>G commonName c.1916T>G MMR_c.1912G>T commonName c.1912G>T MMR_c.1917A>G commonName c.1917A>G MMR_c.1924_1925delCT commonName c.1924_1925delCT MMR_c.1971delT commonName c.1971delT MMR_c.1975_1976delCG commonName c.1975_1976delCG MMR_complex_21 commonName c.[1976G>C (+) 2041G>A] MMR_c.1976G>T commonName c.1976G>T MMR_c.1984A>C commonName c.1984A>C MMR_c.1988A>G commonName c.1988A>G MMR_c.1919C>T commonName c.1919C>T MMR_c.1967T>C commonName c.1967T>C MMR_c.1988delA commonName c.1988delA MMR_c.1988A>C commonName c.1988A>C MMR_c.1990-121C>T commonName c.1990-121C>T MMR_c.1989+5G>C commonName c.1989+5G>C MMR_c.1989+1G>A commonName c.1989+1G>A MMR_c.1989+7dupG commonName c.1989+7dupG MMR_c.1990-16_1990-2del commonName c.1990-16_1990-2del MMR_c.1990-3C>G commonName c.1990-3C>G MMR_c.1990-2A>G commonName c.1990-2A>G MMR_c.1990-1G>A commonName c.1990-1G>A MMR_c.1989+1G>T commonName c.1989+1G>T MMR_c.1990-1G>T commonName c.1990-1G>T MMR_c.2009delA commonName c.2009delA MMR_c.2067_2073delGTACATA commonName c.2067_2073delGTACATA MMR_c.2092_2093delTC commonName c.2092_2093delTC MMR_c.2103G>C commonName c.2103G>C MMR_c.2059C>T commonName c.[2059C>T]+[2059C>T] MMR_c.2041G>A commonName c.2041G>A MMR_complex_22 commonName c.[2103G>C (+) 2210A>T] MMR_c.2040C>A commonName c.2040C>A MMR_c.2101C>T commonName c.2101C>T MMR_c.2027T>G commonName c.2027T>G MMR_c.2066A>G commonName c.2066A>G MMR_c.2078_2172del commonName c.2078_2172del MMR_c.2084C>A commonName c.2084C>A MMR_c.2101C>A commonName c.2101C>A MMR_c.2099_2102delAGCA commonName c.2099_2102delAGCA MMR_c.1990-?_2271+?del commonName c.1990-?_2271+?del MMR_c.1998G>A commonName c.1998G>A MMR_c.2000dupA commonName c.2000dupA MMR_c.2000A>G commonName c.2000A>G MMR_c.2001C>T commonName c.2001C>T MMR_c.2002G>A commonName c.2002G>A MMR_c.2006_2010delAAAAG commonName c.2006_2010delAAAAG MMR_c.2011G>T commonName c.2011G>T MMR_c.2038T>G commonName c.2038T>G MMR_c.2040C>T commonName c.2040C>T MMR_c.2042C>T commonName c.2042C>T MMR_c.2076_2077delTG commonName c.2076_2077delTG MMR_c.2081_2082insT commonName c.2081_2082insT MMR_c.2038T>C commonName c.2038T>C MMR_c.2051A>G commonName c.2051A>G MMR_c.1996T>C commonName c.1996T>C MMR_c.2103+1G>A commonName c.2103+1G>A MMR_c.2104-2A>T commonName c.2104-2A>T MMR_c.2103+1G>T commonName c.2103+1G>T MMR_c.2104-22T>G commonName c.2104-22T>G MMR_c.2104-2A>G commonName c.2104-2A>G MMR_c.2104-11G>A commonName c.2104-11G>A MMR_c.2104-7T>G commonName c.2104-7T>G MMR_c.2146G>A commonName c.2146G>A MMR_c.2269dupT commonName c.2269dupT MMR_c.2152C>T commonName c.2152C>T MMR_c.2250C>G commonName c.2250C>G MMR_c.2142G>A commonName c.2142G>A MMR_c.2141G>A commonName c.2141G>A MMR_c.2246T>C commonName c.2246T>C MMR_c.2252A>G commonName c.2252A>G MMR_c.2265G>C commonName c.2265G>C MMR_c.2221_2224delCTGCins30 commonName c.2221_2224delCTGCins30 MMR_c.2224delC commonName c.2224delC MMR_c.2223_2233delGCAGCTTGCTA commonName c.2223_2233delGCAGCTTGCTA MMR_c.2161_2166dupTATAAA commonName c.2161_2166dupTATAAA MMR_c.2179_2182delCACA commonName c.2179_2182delCACA MMR_c.2194_2197dupAAAC commonName c.2194_2197dupAAAC MMR_c.2104-?_2271+?dup commonName c.2104-?_2271+?dup MMR_c.2136G>A commonName c.2136G>A MMR_c.2210A>T commonName c.2210A>T MMR_c.2263A>T commonName c.2263A>T MMR_c.2252_2253dupAA commonName c.2252_2253dupAA MMR_c.2190_2191insAACA commonName c.2190_2191insAACA MMR_c.2135G>A commonName c.2135G>A MMR_c.2185C>G commonName c.2185C>G MMR_c.2195_2198dupAACA commonName c.2195_2198dupAACA MMR_c.2262delG commonName c.2262delG MMR_c.2104-?_2271+?del commonName c.2104-?_2271+?del MMR_c.2104_2105delAG commonName c.2104_2105delAG MMR_c.2154_2155delCA commonName c.2154_2155delCA MMR_c.2154_2155dupCA commonName c.2154_2155dupCA MMR_c.2155_2156insATGTGTTCCACA commonName c.2155_2156insATGTGTTCCACA MMR_c.2163T>A commonName c.2163T>A MMR_c.2170T>A commonName c.2170T>A MMR_c.2173C>T commonName c.2173C>T MMR_c.2179_2180delCA commonName c.2179_2180delCA MMR_c.2194A>T commonName c.2194A>T MMR_c.2252_2253delAA commonName c.2252_2253delAA MMR_c.2271A>T commonName c.2271A>T MMR_c.2246T>A commonName c.2246T>A MMR_c.2134T>A commonName c.2134T>A MMR_c.*35_*37delCTT commonName c.*35_*37delCTT MMR_c.*30_*32delTTC commonName c.*30_*32delTTC MMR_c.*32_*34delCTT commonName c.*32_*34delCTT MMR_c.*137A>T commonName c.*137A>T MMR_c.-118T>C commonName c.-118T>C MMR_c.1-?_211+?del commonName c.1-?_211+?del MMR_c.-433T>G commonName c.-433T>G MMR_c.-78_-79delGT commonName c.-78_-79delGT MMR_c.1-?_1386+?del commonName c.1-?_1386+?del MMR_c.1-?_1661+?del commonName c.1-?_1661+?del MMR_c.1-?_1759+?del commonName c.1-?_1759+?del MMR_c.1-?_2364+?del commonName c.1-?_2364+?del MMR_c.1-?_2805+?del commonName c.1-?_2805+?del MMR_c.1A>T commonName c.1A>T MMR_c.14C>A commonName c.14C>A MMR_c.4_21dup commonName c.4_21dup MMR_c.21dupG commonName c.21dupG MMR_c.23C>T commonName c.23C>T MMR_c.28C>T commonName c.28C>T MMR_c.29dupA commonName c.29dupA MMR_c.34dupG commonName c.34dupG MMR_c.38G>T commonName c.38G>T MMR_c.49G>T commonName c.49G>T MMR_c.82G>T commonName c.82G>T MMR_c.94_103delACCACAGTGC commonName c.94_103delACCACAGTGC MMR_c.101T>A commonName c.101T>A MMR_c.117G>A commonName c.117G>A MMR_c.118G>A commonName c.118G>A MMR_c.119delG commonName c.119delG MMR_c.129T>G commonName c.129T>G MMR_c.129T>A commonName c.129T>A MMR_c.134C>T commonName c.134C>T MMR_c.134_162delCGCACGGCGAGGACGCGCTGCTGGCCGCC commonName c.134_162delCGCACGGCGAGGACGCGCTGCTGGCCGCC MMR_c.136_164delCACGGCGAGGACGCGCTGCTGGCCGCCCG commonName c.136_164delCACGGCGAGGACGCGCTGCTGGCCGCCCG MMR_c.138C>G commonName c.138C>G MMR_c.142G>T commonName c.142G>T MMR_c.145delG commonName c.145delG MMR_c.145_146delGA commonName c.145_146delGA MMR_c.163delC commonName c.163delC MMR_c.166delG commonName c.166delG MMR_c.181C>T commonName c.181C>T MMR_c.187delG commonName c.187delG MMR_c.186_187dupGG commonName c.186_187dupGG MMR_c.187dupG commonName c.187dupG MMR_c.204delG commonName c.204delG MMR_c.110delT commonName c.110delT MMR_c.81delG commonName c.81delG MMR_c.1-?_645+?del commonName c.1-?_645+?del MMR_c.1-?_1076+?del commonName c.1-?_1076+?del MMR_c.1-?_792+?del commonName c.1-?_792+?del MMR_c.1-?_1276+?del commonName c.1-?_1276+?del MMR_c.1-?_366+?del commonName c.1-?_366+?del MMR_c.4G>A commonName c.4G>A MMR_c.97A>C commonName c.97A>C MMR_c.99A>C commonName c.99A>C MMR_complex_23 commonName c.[1-?_1076+?del]+[454delA] MMR_c.1-?_942+?del commonName c.1-?_942+?del MMR_c.1-?_1077-66del commonName c.1-?_1077-66del MMR_complex_24 commonName c.[1-?_1076+?del]+[367-?_645+?del] MMR_c.97A>G commonName c.97A>G MMR_c.128A>G commonName c.128A>G MMR_c.1A>C commonName c.1A>C MMR_c.54C>G commonName c.54C>G MMR_c.146A>T commonName c.146A>T MMR_c.154_155insG commonName c.154_155insG MMR_complex_25 commonName c.[1-?_211+?del]+[1A>G] MMR_c.1A>G commonName c.1A>G MMR_c.169G>A commonName c.169G>A MMR_c.1-35298_1276+5697del67745 commonName c.1-35298_1276+5697del67745 MMR_c.1277-?_1386+?del commonName c.1277-?_1386+?del MMR_c.211+9C>G commonName c.211+9C>G MMR_c.211+98T>C commonName c.211+98T>C MMR_c.212-1G>A commonName c.212-1G>A MMR_c.20delA commonName c.20delA MMR_c.211+8C>G commonName c.211+8G>C MMR_c.212-2A>G commonName c.212-2A>G MMR_c.212-?_366+?del commonName c.212-?_366+?del MMR_c.212-?_1076+?del commonName c.212-?_1076+?del MMR_c.212-?_1276+?del commonName c.212-?_1276+?del MMR_c.212-?_1386+?del commonName c.212-?_1386+?del MMR_c.219G>A commonName c.219G>A MMR_c.223_224delCT commonName c.223_224delCT MMR_c.226C>T commonName c.226C>T MMR_c.229_230delAG commonName c.229_230delAG MMR_c.247dupA commonName c.247dupA MMR_c.268_289dupAAAGATCTTCTTCTGGTTCGTC commonName c.268_289dupAAAGATCTTCTTCTGGTTCGTC MMR_c.277C>T commonName c.277C>T MMR_c.277_279delCTT commonName c.277_279delCTT MMR_c.278T>C commonName c.278T>C MMR_c.279_281delTCT commonName c.279_281delTCT MMR_c.287G>A commonName c.287G>A MMR_c.289C>T commonName c.289C>T MMR_c.293A>G commonName c.293A>G MMR_c.297_302delAGTTGA commonName c.297_302delAGTTGA MMR_c.329A>G commonName c.329A>G MMR_c.339G>A commonName c.339G>A MMR_c.344delA commonName c.344delA MMR_c.295A>C commonName c.295A>C MMR_c.212-?_645+?del commonName c.212-?_645+?del MMR_c.296delG commonName c.296delG MMR_c.214-?_1076+?del commonName c.214-?_1076+?del MMR_c.255dupT commonName c.255dupT MMR_c.363T>G commonName c.363T>G MMR_c.308A>G commonName c.308A>G MMR_c.278_279delTT commonName c.278_279delTT MMR_c.263_264delTT commonName c.263_264delTT MMR_c.212-?_2458+?del commonName c.212-?_2458+?del MMR_c.255_256delTG commonName c.255_256delTG MMR_c.317G>A commonName c.317G>A MMR_c.327T>C commonName c.327T>C MMR_c.301G>T commonName c.301G>T MMR_c.595T>C commonName c.595T>C MMR_c.366+22delT commonName c.366+22delT MMR_c.366+43G>A commonName c.366+43G>A MMR_c.366+53A>G commonName c.366+53G>A MMR_c.366+1G>T commonName c.366+1G>T MMR_c.367-1G>A commonName c.367-1G>A MMR_c.367-16delT commonName c.367-16delT MMR_c.367-?_645+?del commonName c.367-?_645+?del MMR_c.[1-?_1076+?del]+367-?_645+?del] commonName c.[1-?_1076+?del]+ 367-?_645+?del] MMR_c.367-?_942+?del commonName c.367-?_942+?del MMR_c.367-?_1386+?del commonName c.367-?_1386+?del MMR_c.368delC commonName c.368delC MMR_c.380_381delAT commonName c.380_381delAT MMR_c.380A>G commonName c.380A>G MMR_c.387_388delTC commonName c.387_388delTC MMR_c.388_389delCA commonName c.388_389delCA MMR_c.399C>T commonName c.399C>T MMR_c.399delC commonName c.399delC MMR_c.408delT commonName c.408delT MMR_c.416delA commonName c.416delA MMR_c.425C>G commonName c.425C>G MMR_c.435T>G commonName c.435T>G MMR_c.459C>T commonName c.459C>T MMR_c.471C>A commonName c.471C>A MMR_c.472C>T commonName c.472C>T MMR_c.478C>T commonName c.478C>T MMR_c.482T>A commonName c.482T>A MMR_c.484G>A commonName c.484G>A MMR_c.488T>A commonName c.488T>A MMR_c.490G>T commonName c.490G>T MMR_c.495T>G commonName c.495T>G MMR_c.499G>C commonName c.499G>C MMR_c.505A>G commonName c.505A>G MMR_c.506_509delTACA commonName c.506_509delTACA MMR_c.508C>T commonName c.508C>T MMR_c.511_583dup commonName c.511_583dup MMR_c.512G>A commonName c.512G>A MMR_c.513delG commonName c.513delG MMR_c.517_528delCTAGGACTGTGTinsA commonName c.517_528delCTAGGACTGTGTinsA MMR_c.518delT commonName c.518delT MMR_c.524T>C commonName c.524T>C MMR_c.523_564del commonName c.523_564del MMR_c.530_531delAA commonName c.530_531delAA MMR_c.547C>T commonName c.547C>T MMR_c.546_564dupTCAGTTCTCCAATCTTGAG commonName c.546_564dupTCAGTTCTCCAATCTTGAG MMR_c.560T>G commonName c.560T>G MMR_c.569_570delTCinsCT commonName c.569_570delTCinsCT MMR_c.561_569delTGAGGCTCT commonName c.561_569delTGAGGCTCT MMR_c.573C>T commonName c.573C>T MMR_c.577C>T commonName c.577C>T MMR_c.587delC commonName c.587delC MMR_c.592dupG commonName c.592dupG MMR_c.606C>T commonName c.606C>T MMR_c.610G>T commonName c.610G>T MMR_c.613G>T commonName c.613G>T MMR_c.616dupA commonName c.616dupA MMR_c.619G>T commonName c.619G>T MMR_c.623delG commonName c.623delG MMR_c.638_639delTG commonName c.638_639delTG MMR_c.643C>T commonName c.643C>T MMR_complex_26 commonName c.[643C>T]+[1571G>C] MMR_c.367-?_1076+?del commonName c.367-?_1076+?del MMR_c.529G>T commonName c.529G>T MMR_c.367-?_1759+?del commonName c.367-?_1759+?del MMR_complex_27 commonName c.[380A>G (+) 1264G>T] MMR_c.490G>A commonName c.490G>A MMR_c.518T>C commonName c.518T>C MMR_c.583_584ins73 commonName c.583_584ins73 MMR_c.560T>C commonName c.560T>C MMR_c.565G>T commonName c.565G>T MMR_c.454delA commonName c.454delA MMR_c.367-452_646-722del2051 commonName c.367-452_646-722del2051 MMR_c.593A>G commonName c.593A>G MMR_c.518T>G commonName c.518T>G MMR_c.485G>C commonName c.485G>C MMR_c.347_350delATTG commonName c.347_350delATTG MMR_c.367-?_1276+?del commonName c.367-?_1276+?del MMR_c.642_645delACAG commonName c.642_645delACAG MMR_c.551delT commonName c.551delT MMR_c.596G>A commonName c.596G>A MMR_c.529G>A commonName c.529G>A MMR_complex_28 commonName c.[380A>T(+)1661+12G>A(+)2006-6T>C] MMR_complex_29 commonName c.[505A>G(+)1661+12G>A(+)2006-6T>C] MMR_c.645+1G>A commonName c.645+1G>A MMR_c.646-3_654delTAGATAATTCAA commonName c.646-3_654deltaGATAATTCAA MMR_c.646-3T>G commonName c.646-3T>G MMR_c.645+1G>T commonName c.645+1G>T MMR_c.646-?_792+?del commonName c.646-?_792+?del MMR_c.646-?_1076+?del commonName c.646-?_1076+?del MMR_c.646-?_1276+?del commonName c.646-?_1276+?del MMR_c.792-?_1386+?del commonName c.792-?_1386+?del MMR_c.646-?_2802+?del commonName c.646-?_2802+?del MMR_c.646A>G commonName c.646A>G MMR_c.650_654delTTCAA commonName c.650_654delTTCAA MMR_c.687delA commonName c.687delA MMR_c.687dupA commonName c.687dupA MMR_c.696_697delTT commonName c.696_697delTT MMR_c.704_705delAA commonName c.704_705delAA MMR_c.711_714delTTAT commonName c.711_714delTTAT MMR_c.715C>T commonName c.715C>T MMR_c.717_721delGGACCinsTTA commonName c.717_721delGGACCinsTTA MMR_c.735dupG commonName c.735dupG MMR_c.736A>C commonName c.736A>C MMR_c.746delA commonName c.746delA MMR_c.754C>T commonName c.754C>T MMR_c.759delG commonName c.759delG MMR_c.763_766delAGTGinsTT commonName c.763_766delAGTGinsTT MMR_c.782T>C commonName c.782T>C MMR_c.788_789delAT commonName c.788_789delAT MMR_c.728G>A commonName c.728G>A MMR_complex_30 commonName c.[658G>T(+)1786_1788delAAT] MMR_c.782delT commonName c.782delT MMR_c.759_762delGAAT commonName c.759_762delGAAT MMR_c.709A>G commonName c.709A>G MMR_c.646-?_942+?del commonName c.646-?_942+?del MMR_c.736A>T commonName c.736A>T MMR_c.705delA commonName c.705delA MMR_c.793-29A>T commonName c.793-29A>T MMR_c.793-2A>C commonName c.793-2A>C MMR_c.792+1G>A commonName c.792+1G>A MMR_c.792+5A>G commonName c.792+5A>G MMR_c.793-6_943+450del commonName c.793-6_943+450del MMR_c.793-?_942+?del commonName c.793-?_942+?del MMR_c.793-?_1076-?del commonName c.793-?_1076-?del MMR_c.795delT commonName c.795delT MMR_c.808_811delCTGT commonName c.808_811delCTGT MMR_c.810_811delGT commonName c.810_811delGT MMR_c.815C>T commonName c.815C>T MMR_c.817_818delGTinsAA commonName c.817_818delGTinsAA MMR_c.836_838delTCT commonName c.836_838delTCT MMR_c.839dupT commonName c.839dupT MMR_c.840delA commonName c.840delA MMR_c.842C>G commonName c.842C>G MMR_c.847G>T commonName c.847G>T MMR_c.854delA commonName c.854delA MMR_c.862C>T commonName c.862C>T MMR_c.892C>T commonName c.892C>T MMR_c.901A>T commonName c.901A>T MMR_c.905T>A commonName c.905T>A MMR_c.913G>A commonName c.913G>A MMR_c.929T>C commonName c.929T>C MMR_c.934delC commonName c.934delC MMR_c.881_882delTT commonName c.881_882delTT MMR_c.793-?_1076-?dup commonName c.793-?_1076-?dup MMR_c.795T>C commonName c.795T>C MMR_c.807dupA commonName c.807dupA MMR_c.836delT commonName c.836delT MMR_c.915_922dupAGCAGTCA commonName c.915_922dupAGCAGTCA MMR_c.793-?_1386+?del commonName c.793-?_1386+?del MMR_c.806C>T commonName c.806C>T MMR_c.810_813delGTCT commonName c.810_813delGTCT MMR_c.859G>T commonName c.859G>T MMR_c.898_899dupAT commonName c.898_899dupAT MMR_c.942+3A>T commonName c.942+3A>T MMR_c.943-1G>C commonName c.943-1G>C MMR_c.943-1G>A commonName c.943-1G>A MMR_c.943-?_1076+?del commonName c.943-?_1076+?del MMR_c.958dupA commonName c.958dupA MMR_c.965G>A commonName c.965G>A MMR_c.968C>G commonName c.968C>G MMR_c.968C>A commonName c.968C>A MMR_c.970_971delCA commonName c.970_971delCA MMR_c.972G>A commonName c.972G>A MMR_c.972_973ins184 commonName c.972_973ins184 MMR_c.973dupT commonName c.973dupT MMR_c.984C>T commonName c.984C>T MMR_c.989T>C commonName c.989T>C MMR_c.997T>C commonName c.997T>C MMR_c.1004C>T commonName c.1004C>T MMR_c.1004_1007delCCCC commonName c.1004_1007delCCCC MMR_c.1006C>T commonName c.1006C>T MMR_c.1009C>T commonName c.1009C>T MMR_c.1017_1018delAA commonName c.1017_1018delAA MMR_c.1024G>A commonName c.1024G>A MMR_c.1030C>T commonName c.1030C>T MMR_c.1035G>A commonName c.1035G>A MMR_c.1037_1038dupTT commonName c.1037_1038dupTT MMR_c.1077A>T commonName c.1077A>T MMR_c.1076G>T commonName c.1076G>T MMR_c.998G>A commonName c.998G>A MMR_c.1022T>C commonName c.1022T>C MMR_c.970C>T commonName c.970C>T MMR_c.1034G>A commonName c.1034G>A MMR_c.1012G>A commonName c.1012G>A MMR_c.991A>G commonName c.991A>G MMR_c.1045C>G commonName c.1045C>G MMR_c.1077-10T>C commonName c.1077-10T>C MMR_c.1076+3400C>T commonName c.1076+3400C>T MMR_c.1077-80G>A commonName c.1077-80G>A MMR_c.1077-2037G>T commonName c.1077-2037G>T MMR_c.1076+1G>T commonName c.1076+1G>T MMR_c.1076+1G>A commonName c.1076+1G>A MMR_c.1076+3A>T commonName c.1076+3A>T MMR_c.1077-35A>G commonName c.1077-35G>A MMR_c.1077-2A>C commonName c.1077-2A>C MMR_c.1077-2A>G commonName c.1077-2A>G MMR_c.1077-2A>T commonName c.1077-2A>T MMR_c.1077-1G>C commonName c.1077-1G>C MMR_c.1077-?_1276+?del commonName c.1077-?_1276+?del MMR_c.1077-?_1386+?del commonName c.1077-?_1386+?del MMR_c.1077-?_1661+?del commonName c.1077-?_1661+?del MMR_c.1077-?_2005+?del commonName c.1077-?_2005+?del MMR_c.1076-?_2805+?del commonName c.1076-?_2805+?del MMR_c.1097_1098insA commonName c.1097_1098insA MMR_c.1108delG commonName c.1108delG MMR_c.1119delG commonName c.1119delG MMR_c.1120C>T commonName c.1120C>T MMR_c.1127_1128dupTA commonName c.1127_1128dupTA MMR_c.1132_1134delAAG commonName c.1132_1134delAAG MMR_c.1139delT commonName c.1139delT MMR_c.1144dupC commonName c.1144dupC MMR_c.1147C>T commonName c.1147C>T MMR_c.1160T>C commonName c.1160T>C MMR_c.1168C>T commonName c.1168C>T MMR_c.1183C>T commonName c.1183C>T MMR_c.1182dupT commonName c.1182dupT MMR_c.1189C>T commonName c.1189C>T MMR_c.1192dupG commonName c.1192dupG MMR_c.1196_1197dupCA commonName c.1196_1197dupCA MMR_c.1204C>T commonName c.1204C>T MMR_c.1204delC commonName c.1204delC MMR_c.1216C>T commonName c.1216C>T MMR_c.1221C>T commonName c.1221C>T MMR_c.1222dupT commonName c.1222dupT MMR_c.1224T>C commonName c.1224T>C MMR_c.1226_1227delAG commonName c.1226_1227delAG MMR_c.1235_1267del commonName c.1235_1267del MMR_c.1243_1246delCCTA commonName c.1243_1246delCCTA MMR_c.1243del4 commonName c.1243del4 MMR_c.1249delG commonName c.1249delG MMR_c.1255C>A commonName c.1255C>A MMR_c.1255C>T commonName c.1255C>T MMR_c.1269dupA commonName c.1269dupA MMR_c.1275A>G commonName c.1275A>G MMR_c.1264G>T commonName c.1264G>T MMR_c.1215C>A commonName c.1215C>A MMR_c.1222_1223insT commonName c.1222_1223insT MMR_c.1215_1218dupCCGA commonName c.1215_1218dupCCGA MMR_c.1129C>T commonName c.1129C>T MMR_c.1223A>G commonName c.1223A>G MMR_c.1086A>T commonName c.1086A>T MMR_c.1261C>A commonName c.1261C>A MMR_c.1203dupA commonName c.1203dupA MMR_c.1216_1219dupCGAC commonName c.1216_1219dupCGAC MMR_c.1387-?_1510+?del commonName c.1387-?_1510+?del MMR_c.1225C>A commonName c.1225C>A MMR_c.1145G>A commonName c.1145G>A MMR_c.1277-1G>A commonName c.1277-1G>A MMR_c.1277-5849T>C commonName c.1277-5849T>C MMR_c.1277-945A>C commonName c.1277-945A>C MMR_c.1277-212T>A commonName c.1277-212T>A MMR_c.1277-118G>A commonName c.1277-118G>A MMR_c.1276+6765G>A commonName c.1276+6765G>A MMR_c.1277-2A>G commonName c.1277-2A>G MMR_c.1276+1G>T commonName c.1276+1G>T MMR_c.1276+47T>A commonName c.1276+47T>A MMR_c.1277-14C>G commonName c.1277-14C>G MMR_c.1277-10T>C commonName c.1277-10T>C MMR_c.1277-1G>C commonName c.1277-1G>C MMR_c.1276+2T>A commonName c.1276+2T>A MMR_c.1276+1G>A commonName c.1276+1G>A MMR_c.1277-2A>C commonName c.1277-2A>C MMR_c.1277-?_2634+?del commonName c.1277-?_2634+?del MMR_c.1277-?_2805+?inv commonName c.1277-?_2805+?inv MMR_c.1277-?_2805+?del commonName c.1277-?_2805+?del MMR_c.1285C>T commonName c.1285C>T MMR_c.1287dupG commonName c.1287dupG MMR_c.1288A>T commonName c.1288A>T MMR_c.1292T>A commonName c.1292T>A MMR_c.1315_1317delCCT commonName c.1315_1317delCCT MMR_c.1316_1317delCT commonName c.1316_1317delCT MMR_c.1340_1341insGG commonName c.1340_1341insGG MMR_c.1339T>G commonName c.1339T>G MMR_c.1345A>T commonName c.1345A>T MMR_c.1352_1353delAG commonName c.1352_1353delAG MMR_c.1358T>A commonName c.1358T>A MMR_c.1373T>G commonName c.1373T>G MMR_c.1277-?_1661+?del commonName c.1277-?_1661+?del MMR_c.1277-?_1759+?del commonName c.1277-?_1759+?del MMR_c.1319_1326delTTACTGATinsCC commonName c.1319_1326delTTACTGATinsCC MMR_c.1321dupA commonName c.1321dupA MMR_c.1356A>G commonName c.1356A>G MMR_c.1354G>T commonName c.1354G>T MMR_c.1345_1348delAAGT commonName c.1345_1348delAAGT MMR_c.1387-250G>A commonName c.1387-250G>A MMR_complex_31 commonName c.[1387-8G>T(+)1737A>G] MMR_c.1387-1G>T commonName c.1387-1G>T MMR_c.1387-8G>T commonName c.1387-8G>T MMR_c.1386+1G>T commonName c.1386+1G>T MMR_c.1386+73G>A commonName c.1386+73G>A MMR_c.1386+1G>C commonName c.1386+1G>C MMR_c.1386+1G>A commonName c.1386+1G>A MMR_c.1387-?_1661+?del commonName c.1387-?_1661+?del MMR_c.1387-?_2458+?del commonName c.1387-?_2458+?del MMR_c.1387-?_2805+?del commonName c.1387-?_2805+?del MMR_c.1408delG commonName c.1408delG MMR_c.1418C>G commonName c.1418C>G MMR_c.1418C>T commonName c.1418C>T MMR_c.1442_1445dupTAAG commonName c.1442_1445dupTAAG MMR_c.1444dupA commonName c.1444dupA MMR_c.1444delA commonName c.1444delA MMR_c.1452_1455delAATG commonName c.1452_1455delAATG MMR_c.1457delA commonName c.1457delA MMR_c.1476_1477delinsCT commonName c.1476_1477GC>CT MMR_c.1477C>T commonName c.1477C>T MMR_c.1497delA commonName c.1497delA MMR_c.1510G>C commonName c.1510G>C MMR_c.1494dupT commonName c.1494dupT MMR_c.1387-3976_1662-364del11547 commonName c.1387-3976_1662-364del11547 MMR_c.1447_1448delGA commonName c.1447_1448delGA MMR_c.1447G>T commonName c.1447G>T MMR_complex_32 commonName c.[1487T>A(+)2240_2241delTA] MMR_c.1487T>A commonName c.1487T>A MMR_c.1409T>A commonName c.1409T>A MMR_c.1488A>G commonName c.1488A>G MMR_c.1445_1449delGAGAA commonName c.1445_1449delGAGAA MMR_c.1511-9A>T commonName c.1511-9A>T MMR_complex_33 commonName c.[1511-9A>T; 1661+12G>A] MMR_c.1511-91G>T commonName c.1511-91G>T MMR_c.1511-1516C>T commonName c.1511-1516C>T MMR_c.1511-2A>G commonName c.1511-2A>G MMR_c.1511-8T>G commonName c.1511-8G>T MMR_c.1511-1G>T commonName c.1511-1G>T MMR_c.1516G>T commonName c.1516G>T MMR_c.1552C>T commonName c.1552C>T MMR_c.1552_1553delCA commonName c.1552_1553delCA MMR_c.1563T>C commonName c.1563T>C MMR_c.1566C>G commonName c.1566C>G MMR_c.1571G>C commonName c.1571G>C MMR_c.1576delA commonName c.1576delA MMR_c.1578delC commonName c.1578delC MMR_c.1587delA commonName c.1587delA MMR_c.1585delG commonName c.1585delG MMR_c.1594dupG commonName c.1594dupG MMR_c.1627delG commonName c.1627delG MMR_c.1638_1639dupGA commonName c.1638_1639dupGA MMR_c.1654A>C commonName c.1654A>C MMR_c.1660A>C commonName c.1660A>C MMR_c.1661G>C commonName c.1661G>C MMR_complex_34 commonName c.[1661G>C (+) 1661+12G>A] MMR_c.1642G>T commonName c.1642G>T MMR_c.1511-?_2005+?del commonName c.1511-?_2005+?del MMR_c.1661+12G>A commonName c.1661+12G>A MMR_c.1569delT commonName c.1569delT MMR_c.1600C>T commonName c.1600C>T MMR_c.1660A>G commonName c.1660A>G MMR_c.1593_1613delAGTCCTTCGTAACAATAAAAA commonName c.1593_1613 delAGTCCTTCGTAACAATAAAAA MMR_c.1571G>T commonName c.1571G>T MMR_c.1602T>A commonName c.1602T>A MMR_c.1660A>T commonName c.1660A>T MMR_c.1567T>A commonName c.1567T>A MMR_c.1640A>G commonName c.1640A>G MMR_c.1522G>A commonName c.1522G>A MMR_c.1560A>G commonName c.1560A>G MMR_c.1661+90T>C commonName c.1661+90T>C MMR_complex_35 commonName c.[1661+12G>A]+ [1661+12G>A] MMR_complex_36 commonName c.[1661+12G>A(+)2006-6T>C] MMR_c.1661+1G>T commonName c.1661+1G>T MMR_c.1662-1G>A commonName c.[1662-1G>A]+[1662-1G>A] MMR_c.1662-2A>G commonName c.1662-2A>G MMR_c.1661+1G>A commonName c.1661+1G>A MMR_complex_37 commonName c.[1661+12G>A (+) 1661G>C] MMR_c.1661+5G>C commonName c.1661+5G>C MMR_c.1705_1706delGA commonName c.1705_1706delGA MMR_c.1661+6C>T commonName c.1661+6T>C MMR_c.1662-9G>A commonName c.1662-9A>G MMR_c.1662-?_2458+?del commonName c.1662-?_2458+?del MMR_c.1666T>C commonName c.1666T>C MMR_c.1662-?_1759+?del commonName c.1662-?_1759+?del MMR_c.1681G>A commonName c.1681G>A MMR_c.1737A>G commonName c.1737A>G MMR_c.1738G>T commonName c.1738G>T MMR_c.1668delG commonName c.1668delG MMR_c.1662-?_2805+?del commonName c.1662-?_2805+?del MMR_c.1669A>C commonName c.1669A>C MMR_c.1662-?_2805+?dup commonName c.1662-?_2805+?dup MMR_c.1667_1668insA commonName c.1667_1668insA MMR_c.1672delT commonName c.1672delT MMR_c.1676delT commonName c.1676delT MMR_c.1679delA commonName c.1679delA MMR_c.1683delA commonName c.1683delA MMR_c.1685A>T commonName c.1685A>T MMR_c.1688A>C commonName c.1688A>C MMR_c.1690A>G commonName c.1690A>G MMR_c.1696_1697delAA commonName c.1696_1697delAA MMR_c.1700_1704delAAACA commonName c.1700_1704delAAACA MMR_c.1704_1705delAG commonName c.1704_1705delAG MMR_c.1705_1706dupGA commonName c.1705_1706dupGA MMR_c.1706_1707insT commonName c.1706_1707insT MMR_c.1706_1707delAA commonName c.1706_1707delAA MMR_c.1720C>T commonName c.1720C>T MMR_c.1720delC commonName c.1720delC MMR_c.1741dupA commonName c.1741dupA MMR_c.1755T>C commonName c.1755T>C MMR_c.1759G>C commonName c.1759G>C MMR_c.1753delT commonName c.1753delT MMR_c.1665delA commonName c.1665delA MMR_c.1737dupA commonName c.1737dupA MMR_c.1730T>C commonName c.1730T>C MMR_c.1717delG commonName c.1717delG MMR_c.1699A>T commonName c.1699A>T MMR_c.1759+501A>G commonName c.1759+501A>G MMR_complex_38 commonName c.[1760-62G>A; 1760-111_1760-109dupAGG] MMR_c.2006-6T>C commonName c.2006-6T>C MMR_c.2006-265A>G commonName c.2006-265A>G MMR_c.1759+2T>A commonName c.1759+2T>A MMR_c.1939G>T commonName c.1939G>T MMR_c.1886A>G commonName c.1886A>G MMR_c.1896_1897insA commonName c.1896_1897insA MMR_c.1787A>G commonName c.1787A>G MMR_c.1979_1980delAT commonName c.1979_1980delAT MMR_c.1906G>C commonName c.1906G>C MMR_c.1786_1788delAAT commonName c.1786_1788delAAT MMR_c.1881A>C commonName c.1881A>C MMR_c.1915C>T commonName c.1915C>T MMR_c.1777C>T commonName c.1777C>T MMR_c.1858_1859dupGT commonName c.1858_1859dupGT MMR_c.1801C>T commonName c.1801C>T MMR_c.1788_1789delTG commonName c.1788_1789delTG MMR_c.1865C>T commonName c.1865C>T MMR_c.1864C>A commonName c.1864C>A MMR_c.1760-?_2005+?del commonName c.1760-?_2005+?del MMR_c.1760-?_2802+?del commonName c.1760-?_2802+?del MMR_c.1835C>G commonName c.1835C>G MMR_c.1861C>T commonName c.1861C>T MMR_c.1889_1892delGAAG commonName c.1889_1892delGAAG MMR_c.1771_1772insA commonName c.1771_1772insA MMR_c.1968C>G commonName c.1968C>G MMR_c.1807G>A commonName c.1807G>A MMR_c.1760-?_2210+?del commonName c.1760-?_2210+?del MMR_c.1907C>T commonName c.1907C>T MMR_c.2005G>A commonName c.2005G>A MMR_c.1760-?_2634+?del commonName c.1760-?_2634+?del MMR_c.1760delG commonName c.1760delG MMR_c.1764T>G commonName c.1764T>G MMR_c.1773dupA commonName c.1773dupA MMR_c.1779_1782delGACA commonName c.1779_1782delGACA MMR_c.1781_1782insCT commonName c.1781_1782insCT MMR_c.1799C>T commonName c.1799C>T MMR_c.1807G>T commonName c.1807G>T MMR_c.1809delT commonName c.1809delT MMR_c.1815_1817delTGT commonName c.1815_1817delTGT MMR_c.1826C>T commonName c.1826C>T MMR_c.1856A>G commonName c.1856A>G MMR_c.1857T>G commonName c.1857T>G MMR_c.1857_1858dupTG commonName c.1857_1858dupTG MMR_c.1873T>G commonName c.1873T>G MMR_c.1885C>T commonName c.1885C>T MMR_complex_39 commonName c.[1915C>T; 2211-1G>T] MMR_c.1921T>G commonName c.1921T>G MMR_c.1983dupA commonName c.1983dupA MMR_c.1985_1986delAG commonName c.1985_1986delAG MMR_c.1986delG commonName c.1986delG MMR_c.1987delA1988_1989dupTG commonName c.1987delA1988_1989dupTG MMR_c.1996_1997delAT commonName c.1996_1997delAT MMR_c.1828C>A commonName c.1828C>A MMR_c.1912A>G commonName c.1912A>G MMR_c.1933C>G commonName c.1933C>G MMR_c.1917T>A commonName c.1917T>A MMR_c.1955C>A commonName c.1955C>A MMR_c.1853delC commonName c.1853delC MMR_c.1911delC commonName c.1911delC MMR_c.1808A>G commonName c.1808A>G MMR_c.2005+1G>T commonName c.2005+1G>T MMR_c.2005+2T>C commonName c.2005+2T>C MMR_c.2006-6T>G commonName c.2006-6T>G MMR_c.2006-1G>C commonName c.2006-1G>C MMR_c.2005+25T>G commonName c.2005+25T>G MMR_c.2006-5T>A commonName c.[2006-5T>A]+[2006-5T>A] MMR_c.2006-2A>G commonName c.2006-2A>G MMR_complex_40 commonName c.[2006-5T>A; 2006-6T>A]+[2006-5T>A; 2006-6T>A] MMR_c.2005+8dupA commonName c.2005+8dupA MMR_c.2044A>G commonName c.2044A>G MMR_c.2038C>T commonName c.2038C>T MMR_c.2160_2163delAGGA commonName c.2160_2163delAGGA MMR_c.2089T>C commonName c.2089T>C MMR_c.2194_2196delACT commonName c.2194_2196delACT MMR_c.2239_2240delAT commonName c.2239_2240delAT MMR_c.2031_2032delAT commonName c.2031_2032delAT MMR_c.2090G>T commonName c.2090G>T MMR_c.2123T>A commonName c.2123T>A MMR_c.2063T>G commonName c.2063T>G MMR_c.2006G>A commonName c.2006G>A MMR_c.2131C>T commonName c.2131C>T MMR_c.2071dupA commonName c.2071dupA MMR_c.2191G>T commonName c.2191G>T MMR_c.2113delG commonName c.2113delG MMR_c.2026T>C commonName c.2026T>C MMR_c.2020G>A commonName c.2020G>A MMR_c.2006-?_2634+?del commonName c.2006-?_2634+?del MMR_c.2006-?_2210+?del commonName c.2006-?_2210+?del MMR_c.2010delC commonName c.2010delC MMR_c.2011A>T commonName c.2011A>T MMR_c.2015delT commonName c.2015delT MMR_c.2018delG commonName c.2018delG MMR_c.2024A>G commonName c.2024A>G MMR_c.2053_2056dupATAG commonName c.2053_2056dupATAG MMR_c.2061C>G commonName c.2061C>G MMR_c.2064G>A commonName c.2064G>A MMR_c.2074G>C commonName c.2074G>C MMR_c.2075G>T commonName c.2075G>T MMR_c.2080T>C commonName c.2080T>C MMR_c.2082delT commonName c.2082delT MMR_c.2091T>A commonName c.2091T>A MMR_c.2135dupT commonName c.2135dupT MMR_c.2139G>C commonName c.2139G>C MMR_c.2141dupC commonName c.2141dupC MMR_c.2141C>T commonName c.2141C>T MMR_c.2154A>G commonName c.2154A>G MMR_c.2168C>T commonName c.2168C>T MMR_c.2171C>A commonName c.2171C>A MMR_c.2204delT commonName c.2204delT MMR_c.2087C>T commonName c.2087C>T MMR_c.2047G>A commonName c.2047G>A MMR_c.2021G>C commonName c.2021G>C MMR_c.2210G>C commonName c.2210G>C MMR_c.2020G>C commonName c.2020G>C MMR_c.2009C>T commonName c.2009C>T MMR_c.893A>C commonName c.893A>C MMR_c.2108C>A commonName c.2108C>A MMR_c.2021_2022delGT commonName c.2021_2022delGT MMR_c.2210+274T>G commonName c.2210+274T>G MMR_c.2210+317G>C commonName c.2210+317G>C MMR_c.2211-2A>C commonName c.2211-2A>C MMR_c.2210+1G>A commonName c.2210+1G>A MMR_c.2211-2A>G commonName c.2211-2A>G MMR_c.2211-6C>T commonName c.2211-6T>C MMR_c.2210+1G>C commonName c.2210+1G>C MMR_c.2210+8dupC commonName c.2210+8dupC MMR_c.2210+77T>C commonName c.2210+77T>C MMR_c.2211-10T>A commonName c.2211-10T>A MMR_c.2245G>A commonName c.2245G>A MMR_c.2245G>T commonName c.2245G>T MMR_c.2427dupG commonName c.2427dupG MMR_c.2305delT commonName c.2305delT MMR_c.2388delT commonName c.2388delT MMR_c.2422G>T commonName c.2422G>T MMR_c.2347delC commonName c.2347delC MMR_c.2292G>A commonName c.2292G>A MMR_c.2363_2364delCT commonName c.2363_2364delCT MMR_c.2231T>G commonName c.2231T>G MMR_c.2362dupA commonName c.2362dupA MMR_c.2237_2238insA commonName c.2237_2238insA MMR_c.2228_2231delCATT commonName c.2228_2231delCATT MMR_c.2407A>G commonName c.2407A>G MMR_c.2228C>A commonName c.2228C>A MMR_c.2228C>G commonName c.2228C>G MMR_c.2251G>A commonName c.2251G>A MMR_c.2275G>T commonName c.2275G>T MMR_c.2290delT commonName c.2290delT MMR_c.2293G>A commonName c.2293G>A MMR_c.2294delC commonName c.2294delC MMR_c.2295delT commonName c.2295delT MMR_c.2308A>G commonName c.2308A>G MMR_c.2334C>A commonName c.2334C>A MMR_c.2335dupA commonName c.2335dupA MMR_c.2360_2361dupTT commonName c.2360_2361dupTT MMR_c.2408_2409delCA commonName c.2408_2409delCA MMR_c.2432T>G commonName c.2432T>G MMR_c.2437A>G commonName c.2437A>G MMR_c.2446C>T commonName c.2446C>T MMR_c.2211-?_2458+?del commonName c.2211-?_2458+?del MMR_c.2242G>T commonName c.2242G>T MMR_c.2233_2238delATAATC commonName c.2233_2238delATAATC MMR_c.2235_2237dupAAT commonName c.2235_2237dupAAT MMR_c.2261delC commonName c.2261delC MMR_c.2337G>A commonName c.2337G>A MMR_c.2420C>G commonName c.2420C>G MMR_c.2211-?_2634+?del commonName c.2211-?_2634+?del MMR_c.2458+1G>A commonName c.2458+1G>A MMR_c.2459-2A>C commonName c.2459-2A>C MMR_c.2459-12A>G commonName c.2459-12A>G MMR_c.2500G>A commonName c.2500G>A MMR_c.2459-?_2805+?del commonName c.2459-?_2805+?del MMR_c.2516A>G commonName c.2516A>G MMR_c.2620_2621ins115 commonName c.2620_2621ins115 MMR_c.2466T>A commonName c.2466T>A MMR_c.2632_2633delGA commonName c.2632_2633delGA MMR_c.2459-?_2634+?del commonName c.2459-?_2634+?del MMR_c.2466_2467delTG commonName c.2466_2467delTG MMR_c.2470C>G commonName c.2470C>G MMR_c.2470C>T commonName c.2470C>T MMR_c.2479G>A commonName c.2479G>A MMR_c.2485delC commonName c.2485delC MMR_c.2501_2507delCTAATTT commonName c.2501_2507delCTAATTT MMR_c.2502_2508delTAATTTC commonName c.2502_2508delTAATTTC MMR_c.2507delT commonName c.2507delT MMR_c.2533A>G commonName c.2533A>G MMR_c.2536C>T commonName c.2536C>T MMR_c.2558A>C commonName c.2558A>C MMR_c.2575G>T commonName c.2575G>T MMR_c.2579C>A commonName c.2579C>A MMR_c.2579C>T commonName c.2579C>T MMR_c.2581C>T commonName c.2581C>T MMR_c.2602C>G commonName c.2602C>G MMR_c.2609C>G commonName c.2609C>G MMR_c.2617T>G commonName c.2617T>G MMR_c.2633_2634delAG commonName c.2633_2634delAG MMR_c.2634G>C commonName c.2634G>C MMR_c.2583A>G commonName c.2583A>G MMR_c.2529_2530delTG commonName c.2529_2530delTG MMR_c.2503A>C commonName c.2503A>C MMR_c.2551C>A commonName c.2551C>A MMR_c.2517T>A commonName c.2517T>A MMR_c.2634+5G>T commonName c.2634+5G>T MMR_complex_41 commonName c.[2635-3C>T(+)2635-5T>C] MMR_c.2634+5G>C commonName c.2634+5G>C MMR_c.2635-214T>C commonName c.2635-214T>C MMR_c.2634+1G>A commonName c.2634+1G>A MMR_c.2634+1G>T commonName c.2634+1G>T MMR_c.2635-1G>T commonName c.2635-1G>T MMR_c.2635-3_2635-5delTTCinsCTT commonName c.2635-3_2635-5delTTCinsCTT MMR_c.2634+30delT commonName c.2634+30delT MMR_c.2766T>C commonName c.2766T>C MMR_c.2651T>G commonName c.2651T>G MMR_c.2647delA commonName c.2647delA MMR_c.2629-?_2805+?del commonName c.2629-?_2805+?del MMR_c.2635C>T commonName c.2635C>T MMR_c.2647dupA commonName c.2647dupA MMR_c.2653C>T commonName c.2653C>T MMR_c.2657A>G commonName c.2657A>G MMR_c.2662delC commonName c.2662delC MMR_c.2663T>G commonName c.2663T>G MMR_c.2714C>G commonName c.2714C>G MMR_c.2768T>A commonName c.2768T>A MMR_c.2792A>C commonName c.2792A>C MMR_c.2802G>C commonName c.2802G>C MMR_c.2732T>G commonName c.2732T>G MMR_c.2740G>T commonName c.2740G>T MMR_c.1-?_457-?del commonName c.1-?_457-?del MMR_c.-210C>T commonName c.-210C>T MMR_c.-18G>T commonName c.-18G>T MMR_c.186C>A commonName c.186C>A MMR_c.59C>T commonName c.59C>T MMR_c.62A>G commonName c.62A>G MMR_c.73G>T commonName c.73G>T MMR_c.1-?_4083+?del commonName c.1-?_4083+?del MMR_c.38A>C commonName c.38A>C MMR_c.194C>T commonName c.194C>T MMR_c.1-?_457+?del commonName c.1-?_457+?del MMR_c.108T>G commonName c.108T>G MMR_c.161G>C commonName c.161G>C MMR_c.260+22C>G commonName c.260+22C>G MMR_c.261-36A>G commonName c.261-36A>G MMR_c.260+25A>C commonName c.260+25A>C MMR_c.260+43G>A commonName c.260+43G>A MMR_c.260+96A>C commonName c.260+96A>C MMR_c.260+101C>A commonName c.260+101C>A MMR_c.260+131C>A commonName c.260+131C>A MMR_c.260+2214C>T commonName c.260+2214C>T MMR_c.261-1170G>T commonName c.261-1170G>T MMR_c.2467A>G commonName c.2467A>G MMR_c.440T>A commonName c.440T>A MMR_c.431G>T commonName c.431G>T MMR_c.276A>G commonName c.276A>G MMR_c.426G>A commonName c.426G>A MMR_c.383G>T commonName c.383G>T MMR_c.261-?_457+?dup commonName c.261-?_457+?dup MMR_c.297G>T commonName c.297G>T MMR_c.384delT commonName c.384delT MMR_c.457+52T>A commonName c.457+52T>A MMR_c.458-52G>T commonName c.458-52G>T MMR_c.457+14C>G commonName c.457+14C>G MMR_c.457+63_457+64delGA commonName c.457+63_457+64delGA MMR_complex_42 commonName c.[642C>G]+[458-1G>A] MMR_c.458-1G>A commonName c.458-1G>A MMR_c.457+13A>G commonName c.457+13A>G MMR_c.457+1223T>C commonName c.457+1223T>C MMR_c.457+2T>A commonName c.457+2T>A MMR_c.457+394T>C commonName c.457+394T>C MMR_c.540T>C commonName c.540T>C MMR_complex_43 commonName c.[560A>C(+)794T>G] MMR_c.522_523delAG commonName c.522_523delAG MMR_complex_44 commonName c.[603G>A(+)1186C>G] MMR_c.467C>G commonName c.467C>G MMR_c.583G>T commonName c.583G>T MMR_c.483G>A commonName c.483G>A MMR_c.599C>A commonName c.599C>A MMR_c.628-56C>T commonName c.628-56C>T MMR_c.628-54T>C commonName c.628-54T>C MMR_c.627+1200T>C commonName c.627+1200T>C MMR_c.628-874C>T commonName c.628-874C>T MMR_c.1186C>G commonName c.1186C>G MMR_c.1867C>G commonName c.1867C>G MMR_c.2633T>C commonName c.2633T>C MMR_c.2656A>G commonName c.2656A>G MMR_c.2425delG commonName c.[2425delG]+[2425delG] MMR_complex_45 commonName c.[3020G>A(+)3607_3610delCATG] MMR_c.642C>G commonName c.642C>G MMR_c.741delA commonName c.741delA MMR_c.2314C>T commonName c.2314C>T MMR_c.2503C>T commonName c.2503C>T MMR_c.2176_2177delinsAG commonName c.2176_2177TT>AG MMR_c.1403G>A commonName c.1403G>A MMR_c.1508C>G commonName c.1508C>G MMR_c.1739C>T commonName c.1739C>T MMR_c.2984delA commonName c.2984delA MMR_c.3119_3120delTT commonName c.3119_3120delTT MMR_c.1153_1155delAGG commonName c.1153_1155delAGG MMR_complex_46 commonName c.[1453C>T(+)3907G>A] MMR_c.1787delT commonName c.1787delT MMR_c.718C>T commonName c.718C>T MMR_c.1771C>T commonName c.1771C>T MMR_c.1477G>T commonName c.1477G>T MMR_c.663A>C commonName c.663A>C MMR_complex_47 commonName c.[866G>A(+)867C>A] MMR_c.642C>A commonName c.642C>A MMR_c.755C>G commonName c.755C>G MMR_c.3103C>T commonName c.3103C>T MMR_c.651dupT commonName c.651dupT MMR_c.1614_1615delTCinsAG commonName c.1614_1615delTCinsAG MMR_c.1784delT commonName c.1784delT MMR_c.2719_2720delGT commonName c.2719_2720delGT MMR_c.884A>G commonName c.884A>G MMR_c.1369G>C commonName c.1369G>C MMR_c.1474A>G commonName c.1474A>G MMR_c.1830G>T commonName c.1830G>T MMR_c.2092C>A commonName c.2092C>A MMR_c.2491C>G commonName c.2491C>G MMR_c.3076G>T commonName c.3076G>T MMR_c.1299T>A commonName c.1299T>A MMR_c.1085delC commonName c.1085delC MMR_c.1444C>T commonName c.1444C>T MMR_c.1835C>A commonName c.1835C>A MMR_c.2045_2046delCT commonName c.2045_2046delCT MMR_c.2150_2153delTCAG commonName c.2150_2153delTCAG MMR_c.2302_2304delCCT commonName c.2302_2304delCCT MMR_c.3067G>T commonName c.3067G>T MMR_c.3020G>A commonName c.3020G>A MMR_c.742C>T commonName c.742C>T MMR_c.2360C>T commonName c.2360C>T MMR_c.1079G>T commonName c.1079G>T MMR_complex_48 commonName c.[2282G>A(+)3557-40T>A] MMR_c.2062_2063delGT commonName c.2062_2063delGT MMR_c.845dupT commonName c.845dupT MMR_c.2768dupA commonName c.2768dupA MMR_c.1421_1422dupTG commonName c.1421_1422dupTG MMR_c.2194C>T commonName c.2194C>T MMR_c.2611_2614dupATTA commonName c.2611_2614dupATTA MMR_c.1632_1635delAAAA commonName c.1632_1635delAAAA MMR_c.1190_1191delAT commonName c.1190_1191delAT MMR_c.2348_2349delGT commonName c.2348_2349delGT MMR_c.730C>T commonName c.730C>T MMR_c.2329T>A commonName c.2329T>A MMR_c.2061T>A commonName c.2061T>A MMR_c.2661T>G commonName c.2661T>G MMR_c.663A>G commonName c.663A>G MMR_c.1770C>T commonName c.1770C>T MMR_c.642C>T commonName c.642C>T MMR_c.1164C>T commonName c.1164C>T MMR_c.2400T>C commonName c.2400T>C MMR_c.762_763delTG commonName c.762_763delTG MMR_c.2983G>T commonName c.2983G>T MMR_complex_49 commonName c.[663A>C(+)c.3415G>A] MMR_c.3040_3042delAAG commonName c.3040_3042delAAG MMR_complex_50 commonName c.[2633T>C(+)3207G>T] MMR_c.3160A>T commonName c.3160A>T MMR_c.660A>C commonName c.660A>C MMR_c.1257G>A commonName c.1257G>A MMR_c.2239C>T commonName c.2239C>T MMR_c.1272C>G commonName c.1272C>G MMR_c.2253T>C commonName c.2253T>C MMR_c.2739T>C commonName c.2739T>C MMR_c.1637_1638delAG commonName c.1637_1638delAG MMR_c.2731C>T commonName c.2731C>T MMR_c.3768T>G commonName c.3768T>G MMR_c.1304T>C commonName c.1304T>C MMR_c.1868C>T commonName c.1868C>T MMR_c.2641delGinsAAAA commonName c.2641delGinsAAAA MMR_c.648_649delinsTT commonName c.648_649AG>TT MMR_c.2272C>T commonName c.2272C>T MMR_c.2319C>T commonName c.2319C>T MMR_c.1676G>A commonName c.1676G>A MMR_c.1857A>C commonName c.1857A>C MMR_c.2339C>G commonName c.2339C>G MMR_c.2561A>T commonName c.2561A>T MMR_c.2823_2825delTGC commonName c.2823_2825delTGC MMR_c.2906A>G commonName c.2906A>G MMR_c.3052_3053delCT commonName c.3052_3053delCT MMR_c.2851_2858delCTCCTGGA commonName c.2851_2858delCTCCTGGA MMR_c.1634_1637delAAGA commonName c.1634_1637delAAGA MMR_c.1580delT commonName c.1580delT MMR_c.2955C>G commonName c.2955C>G MMR_c.814G>T commonName c.814G>T MMR_c.1082G>A commonName c.1082G>A MMR_c.1135_1139delAGAGA commonName c.1135_1139delAGAGA MMR_complex_51 commonName c.[1596dupT]+[3261delC] MMR_c.2815C>T commonName c.2815C>T MMR_c.1667A>T commonName c.1667A>T MMR_c.2295C>G commonName c.2295C>G MMR_complex_52 commonName c.[2295C>G]+[2633T>C] MMR_c.739_740insT commonName c.739_740insT MMR_c.747G>A commonName c.747G>A MMR_c.854G>T commonName c.854G>T MMR_c.866_867delinsAA commonName c.866_867GC>AA MMR_complex_53 commonName c.[868delC]+[3511_3516delGATAGAinsT] MMR_c.944C>T commonName c.944C>T MMR_c.1019T>C commonName c.1019T>C MMR_c.1170T>C commonName c.1170T>C MMR_c.1190A>G commonName c.1190A>G MMR_c.1273A>G commonName c.1273A>G MMR_c.1295_1296delinsGCA commonName c.1295_1296TTT>GCA MMR_c.1346T>C commonName c.1346T>C MMR_c.1421dupT commonName c.1421dupT MMR_c.1526T>C commonName c.1526T>C MMR_c.1565A>G commonName c.1565A>G MMR_c.1602delC commonName c.1602delC MMR_c.1613A>C commonName c.1613A>C MMR_c.1614delTinsG commonName c.1614delTinsG MMR_c.1636G>C commonName c.1636G>C MMR_c.1696G>A commonName c.1696G>A MMR_complex_54 commonName c.[1723G>T]+[4075G>T] MMR_c.1806_1809delAAAG commonName c.1806_1809delAAAG MMR_c.1875C>T commonName c.1875C>T MMR_c.1901T>A commonName c.1901T>A MMR_c.1901_1902delTG commonName c.1901_1902delTG MMR_c.1957_1960dupGTGA commonName c.1957_1960dupGTGA MMR_c.2008G>A commonName c.2008G>A MMR_c.2054G>C commonName c.2054G>C MMR_c.2079dupA commonName c.2079dupA MMR_c.2092C>G commonName c.2092C>G MMR_c.2105C>G commonName c.2105C>G MMR_c.2165_2185delCTGGTGCTATCTTCACCAAAG commonName c.2165_2185delCTGGTGCTATCTTCACCAAAG MMR_c.2175C>G commonName c.2175C>G MMR_c.2183A>C commonName c.2183A>C MMR_c.2191C>T commonName c.2191C>T MMR_c.2315G>A commonName c.2315G>A MMR_c.2389delG commonName c.2389delG MMR_c.2398G>C commonName c.2398G>C MMR_c.2399T>C commonName c.2399T>C MMR_c.2408A>G commonName c.2408A>G MMR_c.2549A>G commonName c.2549A>G MMR_complex_55 commonName c.[2672delT; 2674delT] MMR_c.2702G>A commonName c.2702 G>A MMR_c.2927G>A commonName c.2927G>A MMR_c.2931C>G commonName c.2931C>G MMR_c.3013C>T commonName c.3013C>T MMR_c.3028_3032delACTAT commonName c.3028_3032delACTAT MMR_c.3062C>A commonName c.3062C>A MMR_c.3092A>T commonName c.3092A>T MMR_c.3155_3156delAG commonName c.3155_3156delAG MMR_c.706C>T commonName c.706C>T MMR_c.1677C>T commonName c.1677C>T MMR_c.649_650insT commonName c.649_650insT MMR_complex_56 commonName c.[2672delT (+) 2674delT] MMR_complex_57 commonName c.[1835C>A]+[3226C>T] MMR_c.3172+171C>T commonName c.3172+171C>T MMR_c.3206G>A commonName c.3206G>A MMR_c.3261delC commonName c.3261delC MMR_c.3217C>T commonName c.3217C>T MMR_c.3355G>T commonName c.3355G>T MMR_c.3195_3198delCTAT commonName c.3195_3198delCTAT MMR_c.3367G>T commonName c.3367G>T MMR_c.3436C>T commonName c.3436C>T MMR_c.3202C>T commonName c.3202C>T MMR_c.3261dupC commonName c.3261dupC MMR_c.3379_3438+5del commonName c.3379_3438+5del MMR_c.3324dupT commonName c.3324dupT MMR_complex_58 commonName c.[663A>C(+)3415G>A] MMR_c.3425C>T commonName c.3425C>T MMR_c.3246G>T commonName c.3246G>T MMR_c.3226C>T commonName c.3226C>T MMR_c.3221delT commonName c.3221delT MMR_c.3263dupT commonName c.3263dupT MMR_c.3182delT commonName c.3182delT MMR_c.3195delC commonName c.3195delC MMR_c.3198_3199dupTA commonName c.3198_3199dupTA MMR_c.3259C>A commonName c.3259C>A MMR_c.3259C>T commonName c.3259C>T MMR_c.3260C>G commonName c.3260C>G MMR_c.3260_3261dupCC commonName c.3260_3261dupCC MMR_c.3284G>A commonName c.3284G>A MMR_c.3299C>T commonName c.3299C>T MMR_c.3306T>A commonName c.3306T>A MMR_c.3311_3312delTT commonName c.3311_3312delTT MMR_c.3312delT commonName c.3312delT MMR_c.3320delA commonName c.3320delA MMR_c.3415G>A commonName c.3415G>A MMR_c.3419A>G commonName c.3419A>G MMR_complex_59 commonName c.[3226C>T]+[1835C>A] MMR_complex_60 commonName c.[3226C>T]+[3991C>T] MMR_c.3273dupT commonName c.3273dupT MMR_c.[3261dupC]+(3260_3261dupCC) commonName c.[3261dupC]+(3260_3261dupCC) MMR_c.3173-446_3556+215del2269 commonName c.3173-446_3556+215del2269 MMR_c.3438+14A>T commonName c.3438+14A>T MMR_c.3439-16C>T commonName c.3439-16C>T MMR_c.3438+1G>A commonName c.3438+1G>A MMR_c.3438+13dupT commonName c.3438+13dupT MMR_c.3439-2A>G commonName c.3439-2A>G MMR_c.3488A>T commonName c.3488A>T MMR_c.3516_3519delAGTG commonName c.3516_3519delAGTG MMR_c.3514dupA commonName c.3514dupA MMR_c.3513_3514delTA commonName c.3513_3514delTA MMR_c.3543C>G commonName c.3543C>G MMR_c.3519_3522dupGTTT commonName c.3519_3522dupGTTT MMR_c.3472T>C commonName c.3472T>C MMR_c.3485_3487dupCTG commonName c.3485_3487dupCTG MMR_c.3489_3490insCTG commonName c.3489_3490insCTG MMR_c.3511_3512delGA commonName c.3511_3512delGA MMR_c.3513T>C commonName c.3513T>C MMR_c.3442G>C commonName c.3442G>C MMR_c.3516_3527delAGTGTTTACTAG commonName c.3516_3527delAGTGTTTACTAG MMR_c.3519_3520insA commonName c.3519_3520insA MMR_c.3557-4delT commonName c.3557-4delT MMR_c.3556+145A>G commonName c.3556+145A>G MMR_c.3556+146G>A commonName c.3556+146G>A MMR_c.3556+160T>C commonName c.3556+160T>C MMR_c.3557-4dupT commonName c.3557-4dupT MMR_c.3557-3dupA commonName c.3557-3dupA MMR_c.3557-3A>T commonName c.3557-3A>T MMR_c.3646_3646+3delGGTA commonName c.3646_3646+3delGGTA MMR_c.3607_3610delCATG commonName c.3607_3610delCATG MMR_c.3577G>A commonName c.3577G>A MMR_c.3635dupT commonName c.[3635dupT]+[3635dupT] MMR_complex_61 commonName c.[3638A>T]+[3778G>A] MMR_c.3638A>T commonName c.3638A>T MMR_c.3641A>C commonName c.3641A>C MMR_c.3581dupT commonName c.3581dupT MMR_c.3558_3565delTGAAAGTA commonName c.3558_3565delTGAAAGTA MMR_c.3646+31_3646+34dupATCT commonName c.3646+31_3646+34dupATCT MMR_c.3647-70_3647-54delTTTTTGTTTTAATTCCT commonName c.3647-70_c.3647-54delTTTTTGTTTTAATTCCT MMR_c.3647-70_3647-54dupTTTTTGTTTTAATTCCT commonName c.3647-70_c.3647-54dupTTTTTGTTTTAATTCCT MMR_c.3647-70_3647-65delTTTTTG commonName c.3647-70_3647-65delTTTTTG MMR_c.3646+29_3646+32delCTAT commonName c.3646+29_3646+32delCTAT MMR_c.3646+29_3646+32dupCTAT commonName c.3646+29_3646+32dupCTAT MMR_c.3647-2A>C commonName c.3647-2A>C MMR_c.3647-65_3647-61delGTTTT commonName c.3647-65_c.3647-61delGTTTT MMR_c.3647-6_3647-1delTAACAG commonName c.3647-6_3647-1delTAACAG MMR_c.3646-1A>G commonName c.3646-1G>A MMR_c.3799_3800delAT commonName c.3799_3800delAT MMR_c.3674C>T commonName c.3674C>T MMR_c.3694G>C commonName c.3694G>C MMR_c.3724_3726delCGT commonName c.3724_3726delCGT MMR_c.3697_3700del commonName c.3697_3700del MMR_c.3656C>T commonName c.3656C>T MMR_c.3742C>G commonName c.3742C>G MMR_c.3772C>T commonName c.3772C>T MMR_c.3725G>T commonName c.3725G>T MMR_c.3678_3706dup commonName c.3678_3706dup MMR_c.3650G>A commonName c.3650G>A MMR_c.3801+52_3801+53insA commonName c.3801+52_3801+53insA MMR_c.3801+17T>C commonName c.3801+17T>C MMR_c.3801+54C>G commonName c.3801+54C>G MMR_c.3802-41dupT commonName c.3802-41dupT MMR_c.3802-40C>G commonName c.3802-40C>G MMR_c.3804dupA commonName c.3804dupA MMR_c.3838C>T commonName c.3838C>T MMR_c.3851C>T commonName c.3851C>T MMR_c.3852G>A commonName c.3852G>A MMR_c.3939_3957dupTCAAAAGGGACATAGAAAA commonName c.3939_3957dupTCAAAAGGGACATAGAAAA MMR_c.3953_3954ins32 commonName c.3953_3954ins32 MMR_c.3956_3959delAAGC commonName c.3956_3959delAAGC MMR_c.3959_3962delCAAG commonName c.3959_3962delCAAG MMR_c.3984_3987dupGTCA commonName c.3984_3987dupGTCA MMR_c.3991C>T commonName c.3991C>T MMR_c.4001G>A commonName c.4001G>A MMR_c.3958_3961delGCAA commonName c.3958_3961delGCAA MMR_c.3961A>G commonName c.3961A>G MMR_c.3840_3846delGGAGACT commonName c.3840_3846delGGAGACT MMR_c.3958_3959ins19 commonName c.3958_3959ins19 MMR_c.3984_3985insATCA commonName c.3984_3985insATCA MMR_c.3963A>T commonName c.3963A>T MMR_c.3938_3941dupTTCA commonName c.3938_3941dupTTCA MMR_complex_62 commonName c.[3820G>A]+[3821_3824dupAATG] MMR_c.3932_3935dupAAGT commonName c.3932_3935dupAAGT MMR_c.3847_3850dupATTA commonName c.3847_3850dupATTA MMR_c.3930G>C commonName c.3930G>C MMR_c.3887_3893delAAAGCTA commonName c.3887_3893delAAAGCTA MMR_c.3986C>T commonName c.3986C>T MMR_c.4001+2T>C commonName c.4001+2T>C MMR_c.4001+12_4001+15delACTA commonName c.4001+12_4001+15delACTA MMR_c.4002-31_4002-8delins commonName c.4002-31_4002-8delinsTTAAAAAAAAAAAAAAAAAAGTTT MMR_c.4002-31_4002-8delins24 commonName c.[4002-31_4002-8delins24(+)4002-31_4002-8delins24] MMR_c.4002-10_4002-13dupTTTT commonName c.4002-10_4002-13dupTTTT MMR_c.4001+10_4001+13delTAAC commonName c.4001+10_4001+13delTAAC MMR_c.4001+41_4001+44dupTAAG commonName c.4001+41_4001+44dupTAAG MMR_c.4001+32_4001+35dupAACT commonName c.4001+32_4001+35dupAACT MMR_c.4002-10delT commonName c.4002-10delT MMR_c.4002-10dupT commonName c.4002-10dupT MMR_c.4002-10_4002-11dupTT commonName c.4002-10_4002-11dupTT MMR_c.4002-10_4002-11delTT commonName c.4002-10_4002-11delTT MMR_c.4002-10_4002-12dupTTT commonName c.4002-10_4002-12dupTTT MMR_c.4002-8dupA commonName c.4002-8dupA MMR_c.4061T>A commonName c.4061T>A MMR_c.4064_4065insGTCA commonName c.4064_4065insGTCA MMR_c.4066_4069dupTTGA commonName c.4066_4069dupTTGA MMR_c.*85T>A commonName c.*85T>A MMR_c.-195T>C commonName c.-195T>C MMR_c.-123delC commonName c.-123delC MMR_c.906-?_2589+?del commonName c.906-?_2589+?del MMR_c.52A>G commonName c.52A>G MMR_c.59G>A commonName c.59G>A MMR_complex_63 commonName c.[137G>T (+) 1927C>T] MMR_complex_64 commonName c.[137G>T (+) 780C>G (+) 1408C>T (+) 1621A>G] MMR_complex_65 commonName c.[59G>A (+) 1688G>T (+) 2324A>G (+) 2340C>T (+) 2466T>C (+) *17G>C (+) *92dupA] MMR_complex_66 commonName c.[59G>A (+) 2324A>G (+) 2340C>T (+) 2466T>C (+) *17G>C (+) *92dupA] MMR_complex_67 commonName c.[52G>A (+) 780C>G (+) 1621A>G (+) 2570G>C] MMR_complex_68 commonName c.[59G>A (+) 780C>G (+) 1408C>T (+) 1711C>A (+) 2324A>G (+) 2340C>T (+) 2466T>C (+) *92dupA] MMR_complex_69 commonName c.[52A>G (+) 780C>G (+) 1408C>T (+) 2324A>G (+) 2340C>T] MMR_complex_70 commonName c.[137G>T]+[1730dupA;1732C>T] MMR_complex_71 commonName c.[52A>G (+) 780C>G (+) 1866G>A (+) 2570G>C] MMR_complex_72 commonName c.[137G>A]+[137G>T] MMR_c.24-?_163+?del commonName c.24-?_163+?del MMR_c.137G>A commonName c.137G>A MMR_complex_73 commonName c.[137G>T]+[137G>A] MMR_c.182delA commonName c.182delA MMR_c.251-8T>C commonName c.251-8T>C MMR_c.250+108A>G commonName c.250+108A>G MMR_c.288C>T commonName c.288C>T MMR_c.320G>A commonName c.320G>A MMR_c.325G>A commonName c.325G>A MMR_c.400C>T commonName c.400C>T MMR_complex_74 commonName c.[400C>T]+[2184_2185delTC] MMR_c.354-?_803+?del commonName c.354-?_803+?del MMR_538-223A>G commonName 538-223A>G MMR_c.703C>T commonName c.703C>T MMR_c.543delT commonName c.[543delT]+[543delT] MMR_complex_75 commonName c.[544G>A (+) 705+1G>T (+) 780C>G (+) 1621A>G (+) *92dupA] MMR_complex_76 commonName c.[780C>G (+) 1408C>T] MMR_c.593dupT commonName c.593dupT MMR_c.705+1G>T commonName c.705+1G>T MMR_c.705+17A>G commonName c.705+17A>G MMR_c.780C>G commonName c.780C>G MMR_complex_77 commonName c.[544G>A (+) 736_741delCCCCCTins11 (+) 1454C>A (+) 1531A>G] MMR_complex_78 commonName c.[780C>G (+) 1408C>T (+) 1621A>G] MMR_complex_79 commonName c.[780C>G (+) 1621A>G] MMR_complex_80 commonName c.[780G>C (+) 1408C>T] MMR_complex_81 commonName c.[736_741delCCCCCTins11 (+) 1408C>T (+) 1531A>G (+) 2007-4G>A] MMR_complex_82 commonName c.[736_741delCCCCCTins11 (+) 1531A>G (+) 1621A>G] MMR_c.736_741delCCCCCTins11 commonName c.736_741delCCCCCTins11 MMR_c.802dupT commonName c.802dupT MMR_c.736_741delCCCCCTinsTGTGTGTGAAG commonName c.736_741delCCCCCTinsTGTGTGTGAAG MMR_c.706-?_803+?del commonName c.[706-?_803+?del]+[706-?_803+?del] MMR_c.804-10T>G commonName c.804-10T>G MMR_c.804-243G>A commonName c.804-243G>A MMR_c.804-?_903+?del commonName c.804-?_903+?del MMR_c.835G>T commonName c.835G>T MMR_c.856delG commonName c.856delG MMR_complex_83 commonName c.[862_863delCA (+) 1408C>T (+) 2324A>G (+) 2340C>T (+) 2466T>C (+) *17G>C (+) *92dupA] MMR_complex_84 commonName c.[804-?_903+?del (+) 1408C>T (+) 2007-4G>A (+) 2390T>G] MMR_c.903G>T commonName c.903G>T MMR_c.861_864delACAG commonName c.861_864delACAG MMR_c.862_863delCA commonName c.862_863delCA MMR_c.904-?_988+?del commonName c.904-?_988+?del MMR_c.949C>T commonName c.949C>T MMR_c.988+78G>A commonName c.988+78G>A MMR_c.989-?_1144+?del commonName c.989-?_1144+?del MMR_c.1021delA commonName c.1021delA MMR_c.989-296_1144+706del commonName c.989-296_1144+706del MMR_c.1076dupT commonName c.1076dupT MMR_c.1145-5C>T commonName c.1145-5C>T MMR_c.1144+2T>A commonName c.1144+2T>A MMR_c.1408C>T commonName c.1408C>T MMR_c.1454C>A commonName c.1454C>A MMR_c.1621A>G commonName c.1621A>G MMR_c.1688G>T commonName c.1688G>T MMR_c.1753C>A commonName c.1753C>A MMR_c.1789A>T commonName c.1789A>T MMR_c.1866G>A commonName c.1866G>A MMR_c.1882C>T commonName c.1882C>T MMR_c.1531A>G commonName c.1531A>G MMR_c.1145-?_2589+?del commonName c.1145-?_2589+?del MMR_c.1927C>T commonName c.1927C>T MMR_c.1411C>T commonName c.1411C>T MMR_c.1169_1170ins20 commonName c.[1169_1170ins20]+[1169_1170ins20] MMR_c.1237_1239delAAA commonName c.1237_1239delAAA MMR_complex_85 commonName c.[1221delG (+) 2361_2364delCTTC] MMR_c.1437C>G commonName c.1437C>G MMR_c.1488C>T commonName c.1488C>T MMR_c.1831dupA commonName c.1831dupA MMR_complex_86 commonName c.[1408C>T (+) 1531A>G] MMR_complex_87 commonName c.[1408C>T (+) 1621A>G] MMR_c.1221delG commonName c.1221delG MMR_complex_88 commonName c.[1408C>T (+) 1688G>T (+) 2570G>C] MMR_complex_89 commonName c.[1408C>T (+) 1621A>G (+) 2007-4G>A] MMR_complex_90 commonName c.[59G>A (+) 1621A>G (+) 2324A>G (+) 2340C>T (+) 2466T>C (+) *17G>C (+) *92dupA] MMR_complex_91 commonName c.[1408C>T (+) 2007-4G>A] MMR_complex_92 commonName c.[1408C>T (+) 1789A>T] MMR_complex_93 commonName c.[1621A>G (+) 2113G>A] MMR_c.1768delA commonName c.1768delA MMR_c.1506T>A commonName c.1506T>A MMR_c.1526C>A commonName c.1526C>A MMR_c.1530C>A commonName c.1530C>A MMR_c.1571C>A commonName c.1571C>A MMR_c.1576G>A commonName c.1576G>A MMR_c.1618C>A commonName c.1618C>A MMR_c.1760_1761delGTinsCG commonName c.1760_1761delGTinsCG MMR_c.1957T>G commonName c.1957T>G MMR_c.1507_1508delTCinsGG commonName c.1507_1508delTCinsGG MMR_c.1519A>T commonName c.1519A>T MMR_c.1532_1533delCGinsAC commonName c.1532_1533delCGinsAC MMR_c.1578C>A commonName c.1578C>A MMR_c.1688G>A commonName c.1688G>A MMR_c.1714G>A commonName c.1714G>A MMR_c.1741A>G commonName c.1741A>G MMR_c.1744G>A commonName c.1744G>A MMR_c.1774C>T commonName c.1774C>T MMR_complex_94 commonName c.[1780T>G(+)1782A>T] MMR_complex_95 commonName c.[1789A>T(+)1791T>C] MMR_c.1794G>C commonName c.1794G>C MMR_complex_96 commonName c.[1793A>C(+)1794G>A] MMR_c.1795_1796delGAinsCC commonName c.1795_1796delGAinsCC MMR_c.1805C>G commonName c.1805C>G MMR_complex_97 commonName c.[1810C>T(+)1812G>A] MMR_complex_98 commonName c.[1822G>T(+)1824T>C MMR_c.1853T>G commonName c.1853T>G MMR_c.1870T>G commonName c.1870T>G MMR_c.1874T>A commonName c.1874T>A MMR_c.1931A>T commonName c.1931A>T MMR_c.1952A>G commonName c.1952A>G MMR_complex_99 commonName c.[1954A>T(+)1956T>G] MMR_c.1522A>C commonName c.1522A>C MMR_c.1537_1538delAGinsGA commonName c.1537_1538delAGinsGA MMR_c.1556A>G commonName c.1556A>G MMR_c.1559C>T commonName c.1559C>T MMR_c.1717A>T commonName c.1717A>T MMR_c.1733G>T commonName c.1733G>T MMR_c.1747G>A commonName c.1747G>A MMR_c.1759_1760delAGinsGA commonName c.1759_1760delAGinsGA MMR_c.1768A>C commonName c.1768A>C MMR_complex_100 commonName c.[1798A>C(+)1800G>T] MMR_c.1802C>T commonName c.1802C>T MMR_c.1837A>T commonName c.1837A>T MMR_c.1885A>T commonName c.1885A>T MMR_c.1898A>T commonName c.1898A>T MMR_complex_101 commonName c.[1408C>T (+) 2570G>C] MMR_c.1145-?_2174-?del commonName c.1145-?_2174-?del MMR_c.1738A>T commonName c.1738A>T MMR_c.1939A>T commonName c.1939A>T MMR_c.1840A>T commonName c.1840A>T MMR_c.1145-?_2445+?del commonName c.[1145-?_2445+?del]+[1145-?_2445+?del] MMR_complex_102 commonName c.[1408C>T(+)1454C>A(+)1840A>T] MMR_complex_103 commonName c.[1454C>A(+)1840A>T] MMR_c.1306dupA commonName c.1306dupA MMR_c.2006+6G>A commonName c.2006+6G>A MMR_c.2007-1G>A commonName c.2007-1G>A MMR_complex_104 commonName c.[2007-1G>A (+) *92dupA] MMR_c.2007-4G>A commonName c.2007-4G>A MMR_c.2007-7C>T commonName c.2007-7C>T MMR_c.2007-11T>C commonName c.2007-11T>C MMR_c.2113G>A commonName c.2113G>A MMR_c.2019T>G commonName c.2019T>G MMR_complex_105 commonName c.[2035A>T(+)2037T>G] MMR_c.2174+1G>A commonName c.2174+1G>A MMR_c.2192_2196delTAACT commonName c.2192_2196delTAACT MMR_c.2243_2246delAGAA commonName c.2243_2246delAGAA MMR_c.2184_2185delTC commonName c.2184_2185delTC MMR_c.2404C>T commonName c.[2404C>T]+[2404C>T] MMR_c.2324A>G commonName c.2324A>G MMR_c.2340C>T commonName c.2340C>T MMR_c.2361_2364delCTTC commonName c.2361_2364delCTTC MMR_c.2570G>C commonName c.2570G>C MMR_c.2466T>C commonName c.2466T>C MMR_c.2528G>A commonName c.2528G>A VWF_c.55G>A commonName 55G>A VWF_c.55G>A protEffect p.G19R VWF_c.55G>A phenoCommon von Willebrand Disease, Type 1 VWF_c.100C>G commonName 100C>G VWF_c.100C>G protEffect p.R34G VWF_c.100C>G phenoCommon von Willebrand Disease, Type 3 (Type 1) VWF_c.100C>T commonName 100C>T VWF_c.100C>T protEffect p.R34X VWF_c.100C>T phenoCommon von Willebrand Disease, Type 3 VWF_c.139G>C commonName 139G>C VWF_c.139G>C protEffect p.D47H VWF_c.139G>C phenoCommon von Willebrand Disease, Type 3 VWF_c.147C>A commonName 147C>A VWF_c.147C>A protEffect p.S49R VWF_c.147C>A phenoCommon von Willebrand Disease, Type 1 VWF_c.171C>A commonName 171C>A VWF_c.171C>A protEffect p.C57X VWF_c.171C>A phenoCommon von Willebrand Disease, Type 3 VWF_c.191delG commonName 191delG VWF_c.191delG phenoCommon von Willebrand Disease, Type 3 VWF_c.212C>A commonName 212C>A VWF_c.212C>A protEffect p.S71X VWF_c.212C>A phenoCommon von Willebrand Disease, Type 3 VWF_c.253T>C commonName 253T>C VWF_c.253T>C protEffect p.S85P VWF_c.253T>C phenoCommon von Willebrand Disease, Type 3 VWF_c.260A>C commonName 260A>C VWF_c.260A>C protEffect p.Y87S VWF_c.260A>C phenoCommon von Willebrand Disease, Unclassified VWF_c.276delT commonName 276delT VWF_c.276delT phenoCommon von Willebrand Disease, Type 3 VWF_c.276_277insT commonName 276_277insT VWF_c.276_277insT phenoCommon von Willebrand Disease, Type 2N VWF_c.374_387del commonName 374-387del14 VWF_c.374_387del protEffect p.G125fs VWF_c.374_387del phenoCommon von Willebrand Disease, Type 3 VWF_c.375_376delGTinsC commonName 375_376delGTinsC VWF_c.375_376delGTinsC phenoCommon von Willebrand Disease, Type 3 VWF_c.385C>A commonName 385C>A VWF_c.385C>A protEffect p.L129M VWF_c.385C>A phenoCommon von Willebrand Disease, Type 1 VWF_c.421G>A commonName 421G>A VWF_c.421G>A protEffect p.D141N VWF_c.421G>A phenoCommon von Willebrand Disease, Type 3 VWF_c.421G>T commonName 421G>T VWF_c.421G>T protEffect p.D141Y VWF_c.421G>T phenoCommon von Willebrand Disease, Type 3 VWF_c.422A>G commonName 422A>G VWF_c.422A>G protEffect p.D141G VWF_c.422A>G phenoCommon von Willebrand Disease, Type 1 VWF_c.449T>A commonName 449T>A VWF_c.449T>A protEffect p.L150E VWF_c.449T>A phenoCommon von Willebrand Disease, Type 3 VWF_c.449T>C commonName 449T>C VWF_c.449T>C protEffect p.L150P VWF_c.449T>C phenoCommon von Willebrand Disease, Type 3 VWF_c.478G>T commonName 478G>T VWF_c.478G>T protEffect p.G160W VWF_c.478G>T phenoCommon von Willebrand Disease, Type 1 VWF_c.497A>T commonName 497A>T VWF_c.497A>T protEffect p.N166I VWF_c.497A>T phenoCommon von Willebrand Disease, Type 1 VWF_c.533-2A>G commonName 533-2A>G VWF_c.533-2A>G phenoCommon von Willebrand Disease, Type 3 VWF_c.652C>T commonName 652C>T VWF_c.652C>T protEffect p.Q218X VWF_c.652C>T phenoCommon von Willebrand Disease, Type 3 VWF_c.666G>A commonName 666G>A VWF_c.666G>A protEffect p.W222X VWF_c.666G>A phenoCommon von Willebrand Disease, Type 3 VWF_c.788_811del commonName 788_811del VWF_c.788_811del phenoCommon von Willebrand Disease, Type 3 VWF_c.817C>T commonName 817C>T VWF_c.817C>T protEffect p.R273W VWF_c.817C>T phenoCommon von Willebrand Disease, Type 1 (Type 3) VWF_c.823T>A commonName 823T>A VWF_c.823T>A protEffect p.C275S VWF_c.823T>A phenoCommon von Willebrand Disease, Type 3 VWF_c.823T>C commonName 823T>C VWF_c.823T>C protEffect p.C275R VWF_c.823T>C phenoCommon von Willebrand Disease, Type 1 (Type 2A) VWF_c.874+1G>A commonName 874+1G>A VWF_c.874+1G>A phenoCommon von Willebrand Disease, Type 3 VWF_c.893_894insG commonName 893_894insG VWF_c.893_894insG phenoCommon von Willebrand Disease, Type 3 VWF_c.970C>T commonName 970C>T VWF_c.970C>T protEffect p.R324X VWF_c.970C>T phenoCommon von Willebrand Disease, Type 3 VWF_c.971G>A commonName 971G>A VWF_c.971G>A protEffect p.R324Q VWF_c.971G>A phenoCommon von Willebrand Disease, Type 1 VWF_c.988dupA commonName 988dupA VWF_c.988dupA protEffect p.S330KfsX4 VWF_c.988dupA phenoCommon von Willebrand Disease, Type 3 VWF_c.1071C>A commonName 1071C>A VWF_c.1071C>A protEffect p.Y357X VWF_c.1071C>A phenoCommon von Willebrand Disease, Type 2N VWF_c.1093C>T commonName 1093C>T VWF_c.1093C>T protEffect p.R365X VWF_c.1093C>T phenoCommon von Willebrand Disease, Type 3 VWF_c.1109+2T>C commonName 1109+2T>C VWF_c.1109+2T>C phenoCommon von Willebrand Disease, Type 1 VWF_c.1110-1G>A commonName 1110-1G>A VWF_c.1110-1G>A phenoCommon von Willebrand Disease, Type 3 VWF_c.1117C>T commonName 1117C>T VWF_c.1117C>T protEffect p.R373X VWF_c.1117C>T phenoCommon von Willebrand Disease, Type 3 VWF_c.1131G>T commonName 1131G>T VWF_c.1131G>T protEffect p.W377C VWF_c.1131G>T phenoCommon von Willebrand Disease, Type 3 VWF_c.1212_1213insAATCCC commonName 1212ins6 (AATCCC) VWF_c.1212_1213insAATCCC protEffect p.F404insNP VWF_c.1212_1213insAATCCC phenoCommon von Willebrand Disease, Type 2A VWF_c.1280T>A commonName 1280T>A VWF_c.1280T>A protEffect p.I427N VWF_c.1280T>A phenoCommon von Willebrand Disease, Type 3 VWF_c.1309_1326del commonName 1309-1326del VWF_c.1309_1326del protEffect p.D437_R442del VWF_c.1309_1326del phenoCommon von Willebrand Disease, Type 2A VWF_c.1533+15G>A commonName 1533+15G>A VWF_c.1533+15G>A phenoCommon von Willebrand Disease, Type 1 VWF_c.1534-3C>A commonName 1534-3C>A VWF_c.1534-3C>A phenoCommon von Willebrand Disease, Type 3 VWF_c.1573G>A commonName 1573G>A VWF_c.1573G>A protEffect p.G525R VWF_c.1573G>A phenoCommon von Willebrand Disease, Type 3 VWF_c.1583A>G commonName 1583A>G VWF_c.1583A>G protEffect p.N528S VWF_c.1583A>G phenoCommon von Willebrand Disease, Type 2A VWF_c.1648G>A commonName 1648G>A VWF_c.1648G>A protEffect p.G550R VWF_c.1648G>A phenoCommon von Willebrand Disease, Type 2A VWF_c.1657dupT commonName 1657dupT VWF_c.1657dupT protEffect p.W553LfsX97 VWF_c.1657dupT phenoCommon von Willebrand Disease, Type 3 VWF_c.1709G>C commonName 1709G>C VWF_c.1709G>C protEffect p.C570S VWF_c.1709G>C phenoCommon von Willebrand Disease, Type 2A VWF_c.1728G>T commonName 1728G>T VWF_c.1728G>T protEffect p.M576I VWF_c.1728G>T phenoCommon von Willebrand Disease, Type 1 VWF_c.1730-2A>G commonName 1730-2A>G VWF_c.1730-2A>G phenoCommon von Willebrand Disease, Unclassified VWF_c.1781C>G commonName 1781C>G VWF_c.1781C>G protEffect p.A594G VWF_c.1781C>G phenoCommon von Willebrand Disease, Type 1 VWF_c.1830C>A commonName 1830C>A VWF_c.1830C>A protEffect p.Y610X VWF_c.1830C>A phenoCommon von Willebrand Disease, Type 3 VWF_c.1858G>T commonName 1858G>T VWF_c.1858G>T protEffect p.E620X VWF_c.1858G>T phenoCommon von Willebrand Disease, Type 3 VWF_c.1869C>G commonName 1869C>G VWF_c.1869C>G protEffect p.C623W VWF_c.1869C>G phenoCommon von Willebrand Disease, Type 2A VWF_c.1873_1874insGCG commonName 1873_1874insGCG VWF_c.1873_1874insGCG phenoCommon von Willebrand Disease, Type 2A VWF_c.1922C>T commonName 1922C>T VWF_c.1922C>T protEffect p.A641V VWF_c.1922C>T phenoCommon von Willebrand Disease, Type 1 VWF_c.1926G>A commonName 1926G>A VWF_c.1926G>A protEffect p.W642X VWF_c.1926G>A phenoCommon von Willebrand Disease, Type 3 VWF_c.1930G>T commonName 1930G>T VWF_c.1930G>T protEffect p.E644X VWF_c.1930G>T phenoCommon von Willebrand Disease, Type 3 VWF_c.1946-4C>T commonName 1946-4C>T VWF_c.1946-4C>T phenoCommon von Willebrand Disease, Type 3 VWF_c.2016_2019delCTCT commonName 2016_2019delCTCT VWF_c.2016_2019delCTCT phenoCommon von Willebrand Disease, Type 3 VWF_c.2072delC commonName 2072delC VWF_c.2072delC phenoCommon von Willebrand Disease, Type 1 VWF_c.2116C>T commonName 2116C>T VWF_c.2116C>T protEffect p.Q706X VWF_c.2116C>T phenoCommon von Willebrand Disease, Type 3 VWF_c.2124_2125delCT commonName 2124_2125delCT VWF_c.2124_2125delCT phenoCommon von Willebrand Disease, Type 2A VWF_c.2157delA commonName 2157delA VWF_c.2157delA phenoCommon von Willebrand Disease, Type 3 VWF_c.2220G>A commonName 2220G>A VWF_c.2220G>A protEffect p.M740I VWF_c.2220G>A phenoCommon von Willebrand Disease, Type 2M VWF_c.2269_2270delCT commonName 2269_2270delCT VWF_c.2269_2270delCT phenoCommon von Willebrand Disease, Type 3 VWF_c.2278C>T commonName 2278C>T VWF_c.2278C>T protEffect p.R760C VWF_c.2278C>T phenoCommon von Willebrand Disease, Type 2N VWF_c.2279G>A commonName 2279G>A VWF_c.2279G>A protEffect p.R760H VWF_c.2279G>A phenoCommon von Willebrand Disease, Unclassified VWF_c.2284A>G commonName 2284A>G VWF_c.2284A>G protEffect p.K762E VWF_c.2284A>G phenoCommon von Willebrand Disease, Type 1 VWF_c.2287A>G commonName 2287A>G VWF_c.2287A>G protEffect p.R763G VWF_c.2287A>G phenoCommon von Willebrand Disease, Type 2N VWF_c.2313G>T commonName 2313G>T VWF_c.2313G>T protEffect p.M771I VWF_c.2313G>T phenoCommon von Willebrand Disease, Type 1 VWF_c.2344C>T commonName 2344C>T VWF_c.2344C>T protEffect p.R782W VWF_c.2344C>T phenoCommon von Willebrand Disease, Type 2N VWF_c.2345G>A commonName 2345G>A VWF_c.2345G>A protEffect p.R782Q VWF_c.2345G>A phenoCommon von Willebrand Disease, Type 1 VWF_c.2354G>A commonName 2354G>A VWF_c.2354G>A protEffect p.G785E VWF_c.2354G>A phenoCommon von Willebrand Disease, Type 2N VWF_c.2359G>A commonName 2359G>A VWF_c.2359G>A protEffect p.E787K VWF_c.2359G>A phenoCommon von Willebrand Disease, Type 2N VWF_c.2362T>C commonName 2362T>C VWF_c.2362T>C protEffect p.C788R VWF_c.2362T>C phenoCommon von Willebrand Disease, Type 2N VWF_c.2363G>A commonName 2363G>A VWF_c.2363G>A protEffect p.C788Y VWF_c.2363G>A phenoCommon von Willebrand Disease, Type 2N VWF_c.2365A>C commonName 2365A>C VWF_c.2365A>C protEffect p.T789P VWF_c.2365A>C phenoCommon von Willebrand Disease, Type 2N VWF_c.2372C>T commonName 2372C>T VWF_c.2372C>T protEffect p.T791M VWF_c.2372C>T phenoCommon von Willebrand Disease, Type 2N VWF_c.2384A>G commonName 2384A>G VWF_c.2384A>G protEffect p.Y795C VWF_c.2384A>G phenoCommon von Willebrand Disease, Type 2N VWF_c.2398A>G commonName 2398A>G VWF_c.2398A>G protEffect p.M800V VWF_c.2398A>G phenoCommon von Willebrand Disease, Type 2N VWF_c.2411G>T commonName 2411G>T VWF_c.2411G>T protEffect p.C804F VWF_c.2411G>T phenoCommon von Willebrand Disease, Type 2N VWF_c.2435C>T commonName 2435C>T VWF_c.2435C>T protEffect p.P812L VWF_c.2435C>T phenoCommon von Willebrand Disease, Type 2N VWF_c.2435delC commonName 2435delC VWF_c.2435delC phenoCommon von Willebrand Disease, Type 3 VWF_c.(?_2443)_(2546_?)del commonName Exon 18 deletion VWF_c.(?_2443)_(2546_?)del phenoCommon von Willebrand Disease, Type 3 VWF_c.2443-1G>C commonName 2443-1G>C VWF_c.2443-1G>C phenoCommon von Willebrand Disease, Type 3 VWF_c.2446C>T commonName 2446C>T VWF_c.2446C>T protEffect p.R816W VWF_c.2446C>T phenoCommon von Willebrand Disease, Type 2N VWF_c.2447G>A commonName 2447G>A VWF_c.2447G>A protEffect p.R816Q VWF_c.2447G>A phenoCommon von Willebrand Disease, Type 2N VWF_c.2451T>A commonName 2451T>A VWF_c.2451T>A protEffect p.H817Q VWF_c.2451T>A phenoCommon von Willebrand Disease, Type 2N VWF_c.2515delG commonName 2515delG VWF_c.2515delG phenoCommon von Willebrand Disease, Type 1 VWF_c.2540_2541insA commonName 2540_2541insA VWF_c.2540_2541insA phenoCommon von Willebrand Disease, Type 3 VWF_c.2560C>T commonName 2560C>T VWF_c.2560C>T protEffect p.R854W VWF_c.2560C>T phenoCommon von Willebrand Disease, Type 2N VWF_c.2561G>A commonName 2561G>A VWF_c.2561G>A protEffect p.R854Q VWF_c.2561G>A phenoCommon von Willebrand Disease, Type 2N VWF_c.2573G>T commonName 2573G>T VWF_c.2573G>T protEffect p.C858F VWF_c.2573G>T phenoCommon von Willebrand Disease, Type 2N VWF_c.2635G>A commonName 2635G>A VWF_c.2635G>A protEffect p.D879N VWF_c.2635G>A phenoCommon von Willebrand Disease, Type 2N VWF_c.2641delC commonName 2641delC VWF_c.2641delC phenoCommon von Willebrand Disease, Type 3 VWF_c.2685+2T>C commonName 2685+2T>C VWF_c.2685+2T>C phenoCommon von Willebrand Disease, Type 1 VWF_c.2686-1G>C commonName 2686-1G>C VWF_c.2686-1G>C phenoCommon von Willebrand Disease, Type 1 VWF_c.2686-2A>G commonName 2686-2A>G VWF_c.2686-2A>G phenoCommon von Willebrand Disease, Type 1 VWF_c.2734_2735insT commonName 2734_2735insT VWF_c.2734_2735insT phenoCommon von Willebrand Disease, Type 3 VWF_c.2770C>T commonName 2770C>T VWF_c.2770C>T protEffect p.R924W VWF_c.2770C>T phenoCommon von Willebrand Disease, Type 1 VWF_c.2771G>A commonName 2771G>A VWF_c.2771G>A protEffect p.R924Q VWF_c.2771G>A phenoCommon von Willebrand Disease, Type 2N VWF_c.2820+1G>A commonName 2820+1G>A VWF_c.2820+1G>A phenoCommon von Willebrand Disease, Type 1 VWF_c.2820+1G>C commonName 2820+1G>C VWF_c.2820+1G>C phenoCommon von Willebrand Disease, Type 1 VWF_c.2936G>A commonName 2936G>A VWF_c.2936G>A protEffect p.S979N VWF_c.2936G>A phenoCommon von Willebrand Disease, Type 2A VWF_c.2986T>G commonName 2986T>G VWF_c.2986T>G protEffect p.C996E VWF_c.2986T>G phenoCommon von Willebrand Disease, Type 1 VWF_c.3072delC commonName 3072delC VWF_c.3072delC protEffect p.S1024fs VWF_c.3072delC phenoCommon von Willebrand Disease, Type 1 VWF_c.3108+5G>A commonName 3108+5G>A VWF_c.3108+5G>A phenoCommon von Willebrand Disease, Type 3 VWF_c.3159G>T commonName 3159G>T VWF_c.3159G>T protEffect p.Q1053H VWF_c.3159G>T phenoCommon von Willebrand Disease, Type 2N VWF_c.3178T>C commonName 3178T>C VWF_c.3178T>C protEffect p.C1060R VWF_c.3178T>C phenoCommon von Willebrand Disease, Type 2N VWF_c.3179G>A commonName 3179G>A VWF_c.3179G>A protEffect p.C1060Y VWF_c.3179G>A phenoCommon von Willebrand Disease, Type 2N VWF_c.3212G>T commonName 3212G>T VWF_c.3212G>T protEffect p.C1071F VWF_c.3212G>T phenoCommon von Willebrand Disease, Type 3 VWF_c.3232G>A commonName 3232G>A VWF_c.3232G>A protEffect p.E1078K VWF_c.3232G>A phenoCommon von Willebrand Disease, Type 2N VWF_c.3281T>C commonName 3281T>C VWF_c.3281T>C protEffect p.I1094T VWF_c.3281T>C phenoCommon von Willebrand Disease, Type 1 VWF_c.3301T>C commonName 3301T>C VWF_c.3301T>C protEffect p.C1101R VWF_c.3301T>C phenoCommon von Willebrand Disease, Unclassified VWF_c.3303C>G commonName 3303C>G VWF_c.3303C>G protEffect p.C1101W VWF_c.3303C>G phenoCommon von Willebrand Disease, Unclassified VWF_c.3320A>G commonName 3320A>G VWF_c.3320A>G protEffect p.Y1107C VWF_c.3320A>G phenoCommon von Willebrand Disease, Unclassified VWF_c.3332G>A commonName 3332G>A VWF_c.3332G>A protEffect p.C1111Y VWF_c.3332G>A phenoCommon von Willebrand Disease, Type 1 VWF_c.3359G>C commonName 3359G>C VWF_c.3359G>C protEffect p.W1120S VWF_c.3359G>C phenoCommon von Willebrand Disease, Unclassified VWF_c.3379+1G>A commonName 3379+1G>A VWF_c.3379+1G>A phenoCommon von Willebrand Disease, Type 3 VWF_c.3385_3386delAG commonName 3385_3386delAG VWF_c.3385_3386delAG phenoCommon von Willebrand Disease, Type 3 VWF_c.3388T>C commonName 3388T>C VWF_c.3388T>C protEffect p.C1130R VWF_c.3388T>C phenoCommon von Willebrand Disease, Type 1 (Type 2A) VWF_c.3388T>G commonName 3388T>G VWF_c.3388T>G protEffect p.C1130G VWF_c.3388T>G phenoCommon von Willebrand Disease, Type 1 (Type 2A) VWF_c.3389G>T commonName 3389G>T VWF_c.3389G>T protEffect p.C1130F VWF_c.3389G>T phenoCommon von Willebrand Disease, Type 1 VWF_c.3430T>G commonName 3430T>G VWF_c.3430T>G protEffect p.W1144G VWF_c.3430T>G phenoCommon von Willebrand Disease, Type 1 VWF_c.3437A>G commonName 3437A>G VWF_c.3437A>G protEffect p.Y1146C VWF_c.3437A>G phenoCommon von Willebrand Disease, Type 1 (Type 2A) VWF_c.3445T>C commonName 3445T>C VWF_c.3445T>C protEffect p.C1149R VWF_c.3445T>C phenoCommon von Willebrand Disease, Type 1 VWF_c.3460C>T commonName 3460C>T VWF_c.3460C>T protEffect p.Q1154X VWF_c.3460C>T phenoCommon von Willebrand Disease, Type 2N VWF_c.3467C>T commonName 3467C>T VWF_c.3467C>T protEffect p.T1156M VWF_c.3467C>T phenoCommon von Willebrand Disease, Type 1 VWF_c.3470G>T commonName 3470G>T VWF_c.3470G>T protEffect p.C1157F VWF_c.3470G>T phenoCommon von Willebrand Disease, Unclassified VWF_c.3511G>C commonName 3511G>C VWF_c.3511G>C protEffect p.E1171Q VWF_c.3511G>C phenoCommon von Willebrand Disease, Unclassified VWF_c.3538+1G>A commonName 3538+1G>A VWF_c.3538+1G>A phenoCommon von Willebrand Disease, Type 1 VWF_c.3538G>A commonName 3538G>A VWF_c.3538G>A protEffect p.G1180R VWF_c.3538G>A phenoCommon von Willebrand Disease, Type 2A VWF_c.3568T>C commonName 3568T>C VWF_c.3568T>C protEffect p.C1190R VWF_c.3568T>C phenoCommon von Willebrand Disease, Type 1 VWF_c.3586T>C commonName 3586T>C VWF_c.3586T>C protEffect p.C1196R VWF_c.3586T>C phenoCommon von Willebrand Disease, Type 2M VWF_c.3614G>A commonName 3614G>A VWF_c.3614G>A protEffect p.R1205H VWF_c.3614G>A phenoCommon von Willebrand Disease, Unclassified VWF_c.3614G>T commonName 3614G>T VWF_c.3614G>T protEffect p.R1205L VWF_c.3614G>T phenoCommon von Willebrand Disease, Unclassified VWF_c.3673T>G commonName 3673T>G VWF_c.3673T>G protEffect p.C1225G VWF_c.3673T>G phenoCommon von Willebrand Disease, Type 2N VWF_c.3679T>C commonName 3679T>C VWF_c.3679T>C protEffect p.C1227R VWF_c.3679T>C phenoCommon von Willebrand Disease, Type 1 VWF_c.3686T>G commonName 3686T>G VWF_c.3686T>G protEffect p.V1229G VWF_c.3686T>G phenoCommon von Willebrand Disease, Type 1 VWF_c.3692A>C commonName 3692A>C VWF_c.3692A>C protEffect p.N1231T VWF_c.3692A>C phenoCommon von Willebrand Disease, Type 1 VWF_c.3702T>G commonName 3702T>G VWF_c.3702T>G protEffect p.C1234W VWF_c.3702T>G phenoCommon von Willebrand Disease, Unclassified VWF_c.3797C>A commonName 3797C>A VWF_c.3797C>A protEffect p.P1266Q VWF_c.3797C>A phenoCommon von Willebrand Disease, Type 2M VWF_c.3797C>T commonName 3797C>T VWF_c.3797C>T protEffect p.P1266L VWF_c.3797C>T phenoCommon von Willebrand Disease, Type 2B VWF_c.3802C>A commonName 3802C>A VWF_c.3802C>A protEffect p.H1268N VWF_c.3802C>A phenoCommon von Willebrand Disease, Type 2B VWF_c.3802C>G commonName 3802C>G VWF_c.3802C>G protEffect p.H1268D VWF_c.3802C>G phenoCommon von Willebrand Disease, Type 2B VWF_c.3814T>C commonName 3814T>C VWF_c.3814T>C protEffect p.C1272R VWF_c.3814T>C phenoCommon von Willebrand Disease, Type 2A VWF_c.3814T>G commonName 3814T>G VWF_c.3814T>G protEffect p.C1272G VWF_c.3814T>G phenoCommon von Willebrand Disease, Type 2A VWF_c.3814_3815insATTTCTACT commonName 3814_3815insATTTCTACT VWF_c.3814_3815insATTTCTACT phenoCommon von Willebrand Disease, Type 2A VWF_c.3815G>C commonName 3815G>C VWF_c.3815G>C protEffect p.C1272S VWF_c.3815G>C phenoCommon von Willebrand Disease, Type 2A VWF_c.3815G>T commonName 3815G>T VWF_c.3815G>T protEffect p.C1272F VWF_c.3815G>T phenoCommon von Willebrand Disease, Type 2A VWF_c.3827T>C commonName 3827T>C VWF_c.3827T>C protEffect p.L1276P VWF_c.3827T>C phenoCommon von Willebrand Disease, Type 2A VWF_c.3831_3833delCCT commonName 3831-3833delCCT VWF_c.3831_3833delCCT phenoCommon von Willebrand Disease, Type 1 (Type 2A) VWF_c.3835G>A commonName 3835G>A VWF_c.3835G>A protEffect p.V1279I VWF_c.3835G>A phenoCommon von Willebrand Disease, Type 2M VWF_c.3835G>T commonName 3835G>T VWF_c.3835G>T protEffect p.V1279F VWF_c.3835G>T phenoCommon von Willebrand Disease, Type 2A VWF_c.3839_3845dup commonName 3839-3845dup7 VWF_c.3839_3845dup phenoCommon von Willebrand Disease, Type 1 VWF_c.3845T>G commonName 3845T>G VWF_c.3845T>G protEffect p.L1282R VWF_c.3845T>G phenoCommon von Willebrand Disease, Type 2M VWF_c.3853T>C commonName 3853T>C VWF_c.3853T>C protEffect p.S1285P VWF_c.3853T>C phenoCommon von Willebrand Disease, Type 1 VWF_c.3854C>T commonName 3854C>T VWF_c.3854C>T protEffect p.S1285F VWF_c.3854C>T phenoCommon von Willebrand Disease, Type 2M VWF_c.3863T>G commonName 3863T>G VWF_c.3863T>G protEffect p.L1288R VWF_c.3863T>G phenoCommon von Willebrand Disease, Type 2M VWF_c.3877T>C commonName 3877T>C VWF_c.3877T>C protEffect p.F1293L VWF_c.3877T>C phenoCommon von Willebrand Disease, Type 2M VWF_c.3887T>C commonName 3887T>C VWF_c.3887T>C protEffect p.L1296P VWF_c.3887T>C phenoCommon von Willebrand Disease, Type 2M VWF_c.3905A>G commonName 3905A>G VWF_c.3905A>G protEffect p.D1302G VWF_c.3905A>G phenoCommon von Willebrand Disease, Type 2M VWF_c.3910A>G commonName 3910A>G VWF_c.3910A>G protEffect p.M1304V VWF_c.3910A>G phenoCommon von Willebrand Disease, Type 2B VWF_c.3912_3913insATG commonName 3912insATG VWF_c.3912_3913insATG protEffect p.M1304insM VWF_c.3912_3913insATG phenoCommon von Willebrand Disease, Type 2B VWF_c.3916C>T commonName 3916C>T VWF_c.3916C>T protEffect p.R1306W VWF_c.3916C>T phenoCommon von Willebrand Disease, Type 2B VWF_c.3917G>A commonName 3917G>A VWF_c.3917G>A protEffect p.R1306Q VWF_c.3917G>A phenoCommon von Willebrand Disease, Type 2B VWF_c.3917G>T commonName 3917G>T VWF_c.3917G>T protEffect p.R1306L VWF_c.3917G>T phenoCommon von Willebrand Disease, Type 2B VWF_c.3920T>C commonName 3920T>C VWF_c.3920T>C protEffect p.L1307P VWF_c.3920T>C phenoCommon von Willebrand Disease, Type 1 (Type 2A) VWF_c.3922C>T commonName 3922C>T VWF_c.3922C>T protEffect p.R1308C VWF_c.3922C>T phenoCommon von Willebrand Disease, Type 2B VWF_c.3923G>A commonName 3923G>A VWF_c.3923G>A protEffect p.R1308H VWF_c.3923G>A phenoCommon von Willebrand Disease, Type 2A VWF_c.3923G>C commonName 3923G>C VWF_c.3923G>C protEffect p.R1308P VWF_c.3923G>C phenoCommon von Willebrand Disease, Type 2B VWF_c.3925A>G commonName 3925A>G VWF_c.3925A>G protEffect p.I1309V VWF_c.3925A>G phenoCommon von Willebrand Disease, Type 2B VWF_c.3929C>T commonName 3929C>T VWF_c.3929C>T protEffect p.S1310F VWF_c.3929C>T phenoCommon von Willebrand Disease, Type 2B VWF_c.3931C>T commonName 3931C>T VWF_c.3931C>T protEffect p.Q1311X VWF_c.3931C>T phenoCommon von Willebrand Disease, Type 3 VWF_c.3939G>C commonName 3939G>C VWF_c.3939G>C protEffect p.W1313C VWF_c.3939G>C phenoCommon von Willebrand Disease, Type 2B VWF_c.3940G>C commonName 3940G>C VWF_c.3940G>C protEffect p.V1314L VWF_c.3940G>C phenoCommon von Willebrand Disease, Type 2B VWF_c.3940G>T commonName 3940G>T VWF_c.3940G>T protEffect p.V1314F VWF_c.3940G>T phenoCommon von Willebrand Disease, Type 2A VWF_c.3941T>A commonName 3941T>A VWF_c.3941T>A protEffect p.V1314D VWF_c.3941T>A phenoCommon von Willebrand Disease, Type 2B VWF_c.3943C>T commonName 3943C>T VWF_c.3943C>T protEffect p.R1315C VWF_c.3943C>T phenoCommon von Willebrand Disease, Unclassified VWF_c.3944G>A commonName 3944G>A VWF_c.3944G>A protEffect p.R1315H VWF_c.3944G>A phenoCommon von Willebrand Disease, Type 1 VWF_c.3944G>T commonName 3944G>T VWF_c.3944G>T protEffect p.R1315L VWF_c.3944G>T phenoCommon von Willebrand Disease, Type 1 (Type 2A) VWF_c.3946G>A commonName 3946G>A VWF_c.3946G>A protEffect p.V1316M VWF_c.3946G>A phenoCommon von Willebrand Disease, Type 2B VWF_c.3970G>A commonName 3970G>A VWF_c.3970G>A protEffect p.G1324S VWF_c.3970G>A phenoCommon von Willebrand Disease, Type 2M VWF_c.3971G>C commonName 3971G>C VWF_c.3971G>C protEffect p.G1324A VWF_c.3971G>C phenoCommon von Willebrand Disease, Type 2M VWF_c.4010C>T commonName 4010C>T VWF_c.4010C>T protEffect p.P1337L VWF_c.4010C>T phenoCommon von Willebrand Disease, Type 2B VWF_c.4013C>G commonName 4013C>G VWF_c.4013C>G protEffect p.S1338X VWF_c.4013C>G phenoCommon von Willebrand Disease, Type 3 VWF_c.4021C>T commonName 4021C>T VWF_c.4021C>T protEffect p.R1341W VWF_c.4021C>T phenoCommon von Willebrand Disease, Type 2B VWF_c.4022G>A commonName 4022G>A VWF_c.4022G>A protEffect p.R1341Q VWF_c.4022G>A phenoCommon von Willebrand Disease, Type 2B VWF_c.4022G>C commonName 4022G>C VWF_c.4022G>C protEffect p.R1341P VWF_c.4022G>C phenoCommon von Willebrand Disease, Type 2B VWF_c.4022G>T commonName 4022G>T VWF_c.4022G>T protEffect p.R1341L VWF_c.4022G>T phenoCommon von Willebrand Disease, Type 2B VWF_c.4024C>T commonName 4024C>T VWF_c.4024C>T protEffect p.R1342C VWF_c.4024C>T phenoCommon von Willebrand Disease, Type 1 VWF_c.4027A>G commonName 4027A>G VWF_c.4027A>G protEffect p.I1343V VWF_c.4027A>G phenoCommon von Willebrand Disease, Type 3 VWF_c.4036C>T commonName 4036C>T VWF_c.4036C>T protEffect p.Q1346X VWF_c.4036C>T phenoCommon von Willebrand Disease, Type 3 VWF_c.4054_4158dup commonName 4054_4158dup105 VWF_c.4054_4158dup protEffect p.S1352_A1386dup VWF_c.4054_4158dup phenoCommon von Willebrand Disease, Unclassified VWF_c.4075G>A commonName 4075G>A VWF_c.4075G>A protEffect p.E1359K VWF_c.4075G>A phenoCommon von Willebrand Disease, Type 2M VWF_c.4079T>C commonName 4079T>C VWF_c.4079T>C protEffect p.V1360A VWF_c.4079T>C phenoCommon von Willebrand Disease, Type 3 VWF_c.4082T>C commonName 4082T>C VWF_c.4082T>C protEffect p.L1361S VWF_c.4082T>C phenoCommon von Willebrand Disease, Type 1 VWF_c.4085A>C commonName 4085A>C VWF_c.4085A>C protEffect p.K1362T VWF_c.4085A>C phenoCommon von Willebrand Disease, Type 2M VWF_c.4092_4093delAC commonName 4092delAC VWF_c.4092_4093delAC phenoCommon von Willebrand Disease, Type 3 VWF_c.4105T>A commonName 4105T>A VWF_c.4105T>A protEffect p.F1369I VWF_c.4105T>A phenoCommon von Willebrand Disease, Type 2M VWF_c.4115T>G commonName 4115T>G VWF_c.4115T>G protEffect p.I1372S VWF_c.4115T>G phenoCommon von Willebrand Disease, Type 2B VWF_c.4120C>A commonName 4120C>A VWF_c.4120C>A protEffect p.R1374S VWF_c.4120C>A phenoCommon von Willebrand Disease, Unclassified VWF_c.4120C>T commonName 4120C>T VWF_c.4120C>T protEffect p.R1374C VWF_c.4120C>T phenoCommon von Willebrand Disease, Unclassified VWF_c.4121G>A commonName 4121G>A VWF_c.4121G>A protEffect p.R1374H VWF_c.4121G>A phenoCommon von Willebrand Disease, Unclassified VWF_c.4121G>T commonName 4121G>T VWF_c.4121G>T protEffect p.R1374L VWF_c.4121G>T phenoCommon von Willebrand Disease, Unclassified VWF_c.4133C>T commonName 4133C>T VWF_c.4133C>T protEffect p.S1378F VWF_c.4133C>T phenoCommon von Willebrand Disease, Type 1 (Type 2A) VWF_c.4135C>T commonName 4135C>T VWF_c.4135C>T protEffect p.R1379C VWF_c.4135C>T phenoCommon von Willebrand Disease, Unclassified VWF_c.4148T>C commonName 4148T>C VWF_c.4148T>C protEffect p.L1383P VWF_c.4148T>C phenoCommon von Willebrand Disease, Type 2A VWF_c.4148T>G commonName 4148T>G VWF_c.4148T>G protEffect p.L1383R VWF_c.4148T>G phenoCommon von Willebrand Disease, Unclassified VWF_c.4173_4205del commonName 4173-4205 del VWF_c.4173_4205del protEffect p.R1392_Q1402 del VWF_c.4173_4205del phenoCommon von Willebrand Disease, Type 2M VWF_c.4195C>T commonName 4195C>T VWF_c.4195C>T protEffect p.R1399C VWF_c.4195C>T phenoCommon von Willebrand Disease, Unclassified VWF_c.4222_4224delAAG commonName 4222_4224delAAG VWF_c.4222_4224delAAG phenoCommon von Willebrand Disease, Type 2M VWF_c.4238C>T commonName 4238C>T VWF_c.4238C>T protEffect p.P1413L VWF_c.4238C>T phenoCommon von Willebrand Disease, Type 1 VWF_c.4244G>A commonName 4244G>A VWF_c.4244G>A protEffect p.G1415D VWF_c.4244G>A phenoCommon von Willebrand Disease, Type 1 VWF_c.4247T>A commonName 4247T>A VWF_c.4247T>A protEffect p.I1416N VWF_c.4247T>A phenoCommon von Willebrand Disease, Type 1 (Type 2A) VWF_c.4263C>G commonName 4263C>G VWF_c.4263C>G protEffect p.N1421K VWF_c.4263C>G phenoCommon von Willebrand Disease, Type 2M VWF_c.4273A>T commonName 4273A>T VWF_c.4273A>T protEffect p.I1425F VWF_c.4273A>T phenoCommon von Willebrand Disease, Type 2M VWF_c.4309G>A commonName 4309G>A VWF_c.4309G>A protEffect p.A1437T VWF_c.4309G>A phenoCommon von Willebrand Disease, Type 2M VWF_c.4339G>C commonName 4339G>C VWF_c.4339G>C protEffect p.E1447Q VWF_c.4339G>C phenoCommon von Willebrand Disease, Type 1 VWF_c.4368C>A commonName 4368C>A VWF_c.4368C>A protEffect p.Y1456X VWF_c.4368C>A phenoCommon von Willebrand Disease, Type 3 VWF_c.4368C>G commonName 4368C>G VWF_c.4368C>G protEffect p.Y1456X VWF_c.4368C>G phenoCommon von Willebrand Disease, Type 1 VWF_c.4373G>A commonName 4373G>A VWF_c.4373G>A protEffect p.C1458Y VWF_c.4373G>A phenoCommon von Willebrand Disease, Type 2A VWF_c.4378C>G commonName 4378C>G VWF_c.4378C>G protEffect p.L1460V VWF_c.4378C>G phenoCommon von Willebrand Disease, Type 2B VWF_c.4382C>A commonName 4382C>A VWF_c.4382C>A protEffect p.A1461D VWF_c.4382C>A phenoCommon von Willebrand Disease, Type 2B VWF_c.4382C>T commonName 4382C>T VWF_c.4382C>T protEffect p.A1461V VWF_c.4382C>T phenoCommon von Willebrand Disease, Type 2B VWF_c.4384C>G commonName 4384C>G VWF_c.4384C>G protEffect p.P1462A VWF_c.4384C>G phenoCommon von Willebrand Disease, Unclassified VWF_c.4399C>T commonName 4399C>T VWF_c.4399C>T protEffect p.P1467S VWF_c.4399C>T phenoCommon von Willebrand Disease, Type 2M VWF_c.4414dupC commonName 4414insC VWF_c.4414dupC phenoCommon von Willebrand Disease, Type 3 VWF_c.4415_4416insG commonName 4415_4416insG VWF_c.4415_4416insG phenoCommon von Willebrand Disease, Type 3 VWF_c.4423C>T commonName 4423C>T VWF_c.4423C>T protEffect p.Q1475X VWF_c.4423C>T phenoCommon von Willebrand Disease, Type 1 VWF_c.4453delG commonName 4453delG VWF_c.4453delG phenoCommon von Willebrand Disease, Type 1 VWF_c.4499C>A commonName 4499C>A VWF_c.4499C>A protEffect p.A1500E VWF_c.4499C>A phenoCommon von Willebrand Disease, Type 2A VWF_c.4508T>A commonName 4508T>A VWF_c.4508T>A protEffect p.L1503Q VWF_c.4508T>A phenoCommon von Willebrand Disease, Type 2A VWF_c.4508T>C commonName 4508T>C VWF_c.4508T>C protEffect p.L1503P VWF_c.4508T>C phenoCommon von Willebrand Disease, Type 2A VWF_c.4508T>G commonName 4508T>G VWF_c.4508T>G protEffect p.L1503R VWF_c.4508T>G phenoCommon von Willebrand Disease, Type 2A VWF_c.4513G>C commonName 4513G>C VWF_c.4513G>C protEffect p.G1505R VWF_c.4513G>C phenoCommon von Willebrand Disease, Type 2A VWF_c.4514G>A commonName 4514G>A VWF_c.4514G>A protEffect p.G1505E VWF_c.4514G>A phenoCommon von Willebrand Disease, Type 2A VWF_c.4517C>T commonName 4517C>T VWF_c.4517C>T protEffect p.S1506L VWF_c.4517C>T phenoCommon von Willebrand Disease, Type 2A VWF_c.4541T>G commonName 4541T>G VWF_c.4541T>G protEffect p.F1514C VWF_c.4541T>G phenoCommon von Willebrand Disease, Type 2A VWF_c.4552A>G commonName 4552A>G VWF_c.4552A>G protEffect p.K1518E VWF_c.4552A>G phenoCommon von Willebrand Disease, Type 2A VWF_c.4570delG commonName 4570delG VWF_c.4570delG protEffect p.V1524fs VWF_c.4570delG phenoCommon von Willebrand Disease, Type 2A VWF_c.4604_4612delTCCACGTCA commonName 4604_4612delTCCACGTCA VWF_c.4604_4612delTCCACGTCA phenoCommon von Willebrand Disease, Type 2A VWF_c.4616T>A commonName 4616T>A VWF_c.4616T>A protEffect p.V1539E VWF_c.4616T>A phenoCommon von Willebrand Disease, Type 2A VWF_c.4619T>C commonName 4619T>C VWF_c.4619T>C protEffect p.L1540P VWF_c.4619T>C phenoCommon von Willebrand Disease, Type 2A VWF_c.4626C>G commonName 4626C>G VWF_c.4626C>G protEffect p.Y1542X VWF_c.4626C>G phenoCommon von Willebrand Disease, Type 3 VWF_c.4628C>T commonName 4628C>T VWF_c.4628C>T protEffect p.S1543F VWF_c.4628C>T phenoCommon von Willebrand Disease, Type 2A VWF_c.4635delG commonName 4635delG VWF_c.4635delG phenoCommon von Willebrand Disease, Type 3 VWF_c.4637_4645del commonName 4637-4645del9 VWF_c.4637_4645del phenoCommon von Willebrand Disease, Type 1 VWF_c.4645G>A commonName 4645G>A VWF_c.4645G>A protEffect p.E1549K VWF_c.4645G>A phenoCommon von Willebrand Disease, Type 2M VWF_c.4667A>G commonName 4667A>G VWF_c.4667A>G protEffect p.Q1556R VWF_c.4667A>G phenoCommon von Willebrand Disease, Type 2A VWF_c.4685T>C commonName 4685T>C VWF_c.4685T>C protEffect p.L1562P VWF_c.4685T>C phenoCommon von Willebrand Disease, Type 2A VWF_c.4696C>T commonName 4696C>T VWF_c.4696C>T protEffect p.R1566X VWF_c.4696C>T phenoCommon von Willebrand Disease, Unclassified VWF_c.4703T>A commonName 4703T>A VWF_c.4703T>A protEffect p.I1568N VWF_c.4703T>A phenoCommon von Willebrand Disease, Type 2A VWF_c.4717G>A commonName 4717G>A VWF_c.4717G>A protEffect p.G1573S VWF_c.4717G>A phenoCommon von Willebrand Disease, Type 2A VWF_c.4735G>A commonName 4735G>A VWF_c.4735G>A protEffect p.G1579R VWF_c.4735G>A phenoCommon von Willebrand Disease, Type 2A VWF_c.4738C>G commonName 4738C>G VWF_c.4738C>G protEffect p.L1580V VWF_c.4738C>G phenoCommon von Willebrand Disease, Type 2A VWF_c.4739T>C commonName 4739T>C VWF_c.4739T>C protEffect p.L1580P VWF_c.4739T>C phenoCommon von Willebrand Disease, Type 2A VWF_c.4747C>T commonName 4747C>T VWF_c.4747C>T protEffect p.R1583W VWF_c.4747C>T phenoCommon von Willebrand Disease, Type 2A VWF_c.4751A>G commonName 4751A>G VWF_c.4751A>G protEffect p.Y1584C VWF_c.4751A>G phenoCommon von Willebrand Disease, Type 1 VWF_c.4789C>G commonName 4789C>G VWF_c.4789C>G protEffect p.R1597G VWF_c.4789C>G phenoCommon von Willebrand Disease, Type 2A VWF_c.4789C>T commonName 4789C>T VWF_c.4789C>T protEffect p.R1597W VWF_c.4789C>T phenoCommon von Willebrand Disease, Type 2A VWF_c.4790G>A commonName 4790G>A VWF_c.4790G>A protEffect p.R1597Q VWF_c.4790G>A phenoCommon von Willebrand Disease, Type 2A VWF_c.4790G>T commonName 4790G>T VWF_c.4790G>T protEffect p.R1597L VWF_c.4790G>T phenoCommon von Willebrand Disease, Type 2A VWF_c.4808T>C commonName 4808T>C VWF_c.4808T>C protEffect p.L1603P VWF_c.4808T>C phenoCommon von Willebrand Disease, Type 1 VWF_c.4810G>T commonName 4810G>T VWF_c.4810G>T protEffect p.V1604F VWF_c.4810G>T phenoCommon von Willebrand Disease, Type 2A VWF_c.4820T>A commonName 4820T>A VWF_c.4820T>A protEffect p.V1607D VWF_c.4820T>A phenoCommon von Willebrand Disease, Type 2A VWF_c.4825G>A commonName 4825G>A VWF_c.4825G>A protEffect p.G1609R VWF_c.4825G>A phenoCommon von Willebrand Disease, Type 2A VWF_c.4837T>C commonName 4837T>C VWF_c.4837T>C protEffect p.S1613P VWF_c.4837T>C phenoCommon von Willebrand Disease, Type 2A VWF_c.4841A>G commonName 4841A>G VWF_c.4841A>G protEffect p.D1614G VWF_c.4841A>G phenoCommon von Willebrand Disease, Type 2A VWF_c.4880C>A commonName 4880C>A VWF_c.4880C>A protEffect p.P1627H VWF_c.4880C>A phenoCommon von Willebrand Disease, Type 2A VWF_c.4883T>C commonName 4883T>C VWF_c.4883T>C protEffect p.I1628T VWF_c.4883T>C phenoCommon von Willebrand Disease, Type 2A VWF_c.4885G>A commonName 4885G>A VWF_c.4885G>A protEffect p.G1629R VWF_c.4885G>A phenoCommon von Willebrand Disease, Type 2A VWF_c.4886delG commonName 4886delG VWF_c.4886delG phenoCommon von Willebrand Disease, Type 3 VWF_c.4889T>A commonName 4889T>A VWF_c.4889T>A protEffect p.V1630E VWF_c.4889T>A phenoCommon von Willebrand Disease, Type 2A VWF_c.4912G>A commonName 4912G>A VWF_c.4912G>A protEffect p.E1638K VWF_c.4912G>A phenoCommon von Willebrand Disease, Type 2A VWF_c.4916T>C commonName 4916T>C VWF_c.4916T>C protEffect p.L1639P VWF_c.4916T>C phenoCommon von Willebrand Disease, Type 2A VWF_c.4942C>T commonName 4942C>T VWF_c.4942C>T protEffect p.P1648S VWF_c.4942C>T phenoCommon von Willebrand Disease, Type 2A VWF_c.4943C>G commonName 4943C>G VWF_c.4943C>G protEffect p.P1648R VWF_c.4943C>G phenoCommon von Willebrand Disease, Type 2A VWF_c.4944delT commonName 4944delT VWF_c.4944delT phenoCommon von Willebrand Disease, Type 1 VWF_c.4969C>A commonName 4969C>A VWF_c.4969C>A protEffect p.L1657I VWF_c.4969C>A phenoCommon von Willebrand Disease, Type 2A VWF_c.4970T>A commonName 4970T>A VWF_c.4970T>A protEffect p.L1657H VWF_c.4970T>A phenoCommon von Willebrand Disease, Type 2A VWF_c.4971dupC commonName 4971insC VWF_c.4971dupC phenoCommon von Willebrand Disease, Type 3 VWF_c.4975C>T commonName 4975C>T VWF_c.4975C>T protEffect p.R1659X VWF_c.4975C>T phenoCommon von Willebrand Disease, Type 3 VWF_c.4994T>A commonName 4994T>A VWF_c.4994T>A protEffect p.V1665E VWF_c.4994T>A phenoCommon von Willebrand Disease, Type 2A VWF_c.5004G>T commonName 5004G>T VWF_c.5004G>T protEffect p.R1668S VWF_c.5004G>T phenoCommon von Willebrand Disease, Type 1 VWF_c.5014G>A commonName 5014G>A VWF_c.5014G>A protEffect p.G1672R VWF_c.5014G>A phenoCommon von Willebrand Disease, Type 2A VWF_c.5023_5024delCTinsTA commonName 5023C>T, 5024T>A VWF_c.5023_5024delCTinsTA phenoCommon von Willebrand Disease, Type 1 VWF_c.5053+1G>A commonName 5053+1G>A VWF_c.5053+1G>A phenoCommon von Willebrand Disease, Type 3 VWF_c.5053+1G>T commonName 5053+1G>T VWF_c.5053+1G>T phenoCommon von Willebrand Disease, Type 3 VWF_c.5170+10C>T commonName 5170+10C>T VWF_c.5170+10C>T phenoCommon von Willebrand Disease, Type 3 VWF_c.5180_5181insTT commonName 5180insTT VWF_c.5180_5181insTT protEffect p.L1727fs VWF_c.5180_5181insTT phenoCommon von Willebrand Disease, Type 1 VWF_c.5191T>A commonName 5191T>A VWF_c.5191T>A protEffect p.S1731T VWF_c.5191T>A phenoCommon von Willebrand Disease, Unclassified VWF_c.5235G>T commonName 5235G>T VWF_c.5235G>T protEffect p.W1745C VWF_c.5235G>T phenoCommon von Willebrand Disease, Type 2M VWF_c.5278G>A commonName 5278G>A VWF_c.5278G>A protEffect p.V1760I VWF_c.5278G>A phenoCommon von Willebrand Disease, Type 1 VWF_c.5321T>C commonName 5321T>C VWF_c.5321T>C protEffect p.L1774S VWF_c.5321T>C phenoCommon von Willebrand Disease, Type 1 VWF_c.5335C>T commonName 5335C>T VWF_c.5335C>T protEffect p.R1779X VWF_c.5335C>T phenoCommon von Willebrand Disease, Type 1 VWF_c.5347T>G commonName 5347T>G VWF_c.5347T>G protEffect p.S1783A VWF_c.5347T>G phenoCommon von Willebrand Disease, Type 2M VWF_c.5356C>G commonName 5356C>G VWF_c.5356C>G protEffect p.H1786D VWF_c.5356C>G phenoCommon von Willebrand Disease, Type 2M VWF_c.5380A>G commonName 5380A>G VWF_c.5380A>G protEffect p.K1794E VWF_c.5380A>G phenoCommon von Willebrand Disease, Type 1 VWF_c.5453A>G commonName 5453A>G VWF_c.5453A>G protEffect p.N1818S VWF_c.5453A>G phenoCommon von Willebrand Disease, Type 1 VWF_c.5465T>G commonName 5465T>G VWF_c.5465T>G protEffect p.V1822G VWF_c.5465T>G phenoCommon von Willebrand Disease, Type 1 VWF_c.5471C>A commonName 5471C>A VWF_c.5471C>A protEffect p.P1824H VWF_c.5471C>A phenoCommon von Willebrand Disease, Type 1 VWF_c.5545G>A commonName 5545G>A VWF_c.5545G>A protEffect p.V1850M VWF_c.5545G>A phenoCommon von Willebrand Disease, Type 1 VWF_c.5557C>T commonName 5557C>T VWF_c.5557C>T protEffect p.R1853X VWF_c.5557C>T phenoCommon von Willebrand Disease, Type 3 VWF_c.5890C>A commonName 5890C>A VWF_c.5890C>A protEffect p.Q1964K VWF_c.5890C>A phenoCommon von Willebrand Disease, Type 1 VWF_c.5941G>T commonName 5941G>T VWF_c.5941G>T protEffect p.E1981X VWF_c.5941G>T phenoCommon von Willebrand Disease, Type 3 VWF_c.6182delT commonName 6182delT VWF_c.6182delT phenoCommon von Willebrand Disease, Type 3 VWF_c.6187C>T commonName 6187C>T VWF_c.6187C>T protEffect p.P2063S VWF_c.6187C>T phenoCommon von Willebrand Disease, Type 3 VWF_c.6311C>T commonName 6311C>T VWF_c.6311C>T protEffect p.T2104I VWF_c.6311C>T phenoCommon von Willebrand Disease, Type 1 VWF_c.6385G>T commonName 6385G>T VWF_c.6385G>T protEffect p.E2129X VWF_c.6385G>T phenoCommon von Willebrand Disease, Type 3 VWF_c.6433C>T commonName 6433C>T VWF_c.6433C>T protEffect p.P2145S VWF_c.6433C>T phenoCommon von Willebrand Disease, Type 1 VWF_c.6520T>G commonName 6520T>G VWF_c.6520T>G protEffect p.C2174G VWF_c.6520T>G phenoCommon von Willebrand Disease, Type 3 VWF_c.6536C>T commonName 6536C>T VWF_c.6536C>T protEffect p.S2179F VWF_c.6536C>T phenoCommon von Willebrand Disease, Type 1 VWF_c.6554G>A commonName 6554G>A VWF_c.6554G>A protEffect p.R2185Q VWF_c.6554G>A phenoCommon von Willebrand Disease, Type 1 VWF_c.6599-20A>T commonName 6599-20A>T VWF_c.6599-20A>T phenoCommon von Willebrand Disease, Type 1 VWF_c.6620T>C commonName 6620T>C VWF_c.6620T>C protEffect p.L2207P VWF_c.6620T>C phenoCommon von Willebrand Disease, Unclassified VWF_c.6697G>C commonName 6697G>C VWF_c.6697G>C protEffect p.E2233G VWF_c.6697G>C phenoCommon von Willebrand Disease, Type 1 VWF_c.6769T>A commonName 6769T>A VWF_c.6769T>A protEffect p.C2257S VWF_c.6769T>A phenoCommon von Willebrand Disease, Type 1 VWF_c.6798+1G>T commonName 6798+1G>T VWF_c.6798+1G>T phenoCommon von Willebrand Disease, Type 1 VWF_c.6859C>T commonName 6859C>T VWF_c.6859C>T protEffect p.R2287W VWF_c.6859C>T phenoCommon von Willebrand Disease, Type 1 VWF_c.6911G>A commonName 6911G>A VWF_c.6911G>A protEffect p.C2304Y VWF_c.6911G>A phenoCommon von Willebrand Disease, Type 1 VWF_c.6932G>A commonName 6932G>A VWF_c.6932G>A protEffect p.R2311H VWF_c.6932G>A phenoCommon von Willebrand Disease, Type 1 VWF_c.6938G>A commonName 6938G>A VWF_c.6938G>A protEffect p.R2313H VWF_c.6938G>A phenoCommon von Willebrand Disease, Type 1 VWF_c.6977-1G>C commonName 6977-1G>C VWF_c.6977-1G>C phenoCommon von Willebrand Disease, Type 3 VWF_c.7018T>C commonName 7018T>C VWF_c.7018T>C protEffect p.C2340R VWF_c.7018T>C phenoCommon von Willebrand Disease, Type 1 VWF_c.7028G>T commonName 7028G>T VWF_c.7028G>T protEffect p.G2343V VWF_c.7028G>T phenoCommon von Willebrand Disease, Type 1 VWF_c.7082-2A>G commonName 7082-2A>G VWF_c.7082-2A>G phenoCommon von Willebrand Disease, Type 3 VWF_c.7085G>T commonName 7085G>T VWF_c.7085G>T protEffect p.C2362F VWF_c.7085G>T phenoCommon von Willebrand Disease, Type 3 VWF_c.7125dupC commonName 7125insC VWF_c.7125dupC phenoCommon von Willebrand Disease, Type 3 VWF_c.7130dupC commonName 7130insC VWF_c.7130dupC phenoCommon von Willebrand Disease, Type 3 VWF_c.7135C>T commonName 7135C>T VWF_c.7135C>T protEffect p.R2379C VWF_c.7135C>T phenoCommon von Willebrand Disease, Type 1 VWF_c.7137dupT commonName 7137insT VWF_c.7137dupT phenoCommon von Willebrand Disease, Type 3 VWF_c.7176T>G commonName 7176T>G VWF_c.7176T>G protEffect p.Y2392X VWF_c.7176T>G phenoCommon von Willebrand Disease, Type 3 VWF_c.7294_7295delGT commonName 7294delGT VWF_c.7294_7295delGT phenoCommon von Willebrand Disease, Type 3 VWF_c.7300C>T commonName 7300C>T VWF_c.7300C>T protEffect p.R2434X VWF_c.7300C>T phenoCommon von Willebrand Disease, Type 3 VWF_c.7321G>T commonName 7321G>T VWF_c.7321G>T protEffect p.G2441C VWF_c.7321G>T phenoCommon von Willebrand Disease, Type 1 VWF_c.7377_7393dupCGTGATGGGCCTCCGCG commonName 7377_7393dup CGTGATGGGCCTCCGCG VWF_c.7377_7393dupCGTGATGGGCCTCCGCG phenoCommon von Willebrand Disease, Type 3 VWF_c.7390C>T commonName 7390C>T VWF_c.7390C>T protEffect p.R2464C VWF_c.7390C>T phenoCommon von Willebrand Disease, Type 1 VWF_c.7405T>C commonName 7405T>C VWF_c.7405T>C protEffect p.S2469P VWF_c.7405T>C phenoCommon von Willebrand Disease, Type 1 VWF_c.7408C>T commonName 7408C>T VWF_c.7408C>T protEffect p.Q2470X VWF_c.7408C>T phenoCommon von Willebrand Disease, Unclassified VWF_c.7430G>A commonName 7430G>A VWF_c.7430G>A protEffect p.C2477Y VWF_c.7430G>A phenoCommon von Willebrand Disease, Type 1 VWF_c.7430G>C commonName 7430G>C VWF_c.7430G>C protEffect p.C2477S VWF_c.7430G>C phenoCommon von Willebrand Disease, Type 1 VWF_c.7437+1G>A commonName 7437+1G>A VWF_c.7437+1G>A phenoCommon von Willebrand Disease, Type 1 VWF_c.7437G>A commonName 7437G>A VWF_c.7437G>A phenoCommon von Willebrand Disease, Type 3 VWF_c.7449_7450insA commonName 7449_7450insA VWF_c.7449_7450insA phenoCommon von Willebrand Disease, Type 3 (Type 1) VWF_c.7489T>C commonName 7489T>C VWF_c.7489T>C protEffect p.S2497P VWF_c.7489T>C phenoCommon von Willebrand Disease, Type 1 VWF_c.7552G>A commonName 7552G>A VWF_c.7552G>A protEffect p.G2518S VWF_c.7552G>A phenoCommon von Willebrand Disease, Type 1 VWF_c.7559A>C commonName 7559A>C VWF_c.7559A>C protEffect p.Q2520P VWF_c.7559A>C phenoCommon von Willebrand Disease, Type 1 VWF_c.7599T>A commonName 7599T>A VWF_c.7599T>A protEffect p.C2533X VWF_c.7599T>A phenoCommon von Willebrand Disease, Unclassified VWF_c.7603C>T commonName 7603C>T VWF_c.7603C>T protEffect p.R2535X VWF_c.7603C>T phenoCommon von Willebrand Disease, Type 3 VWF_c.7630C>T commonName 7630C>T VWF_c.7630C>T protEffect p.Q2544X VWF_c.7630C>T phenoCommon von Willebrand Disease, Type 3 VWF_c.7636A>T commonName 7636A>T VWF_c.7636A>T protEffect p.N2546Y VWF_c.7636A>T phenoCommon von Willebrand Disease, Type 3 VWF_c.7664_7665insAG commonName 7664_7665insAG VWF_c.7664_7665insAG phenoCommon von Willebrand Disease, Type 3 VWF_c.7674dupC commonName 7674insC VWF_c.7674dupC phenoCommon von Willebrand Disease, Type 3 VWF_c.7683delT commonName 7683delT VWF_c.7683delT phenoCommon von Willebrand Disease, Type 3 VWF_c.7729+7C>T commonName 7729+7C>T VWF_c.7729+7C>T phenoCommon von Willebrand Disease, Type 3 VWF_c.7730-1G>C commonName 7730-1G>C VWF_c.7730-1G>C phenoCommon von Willebrand Disease, Type 1 / 3 VWF_c.7940C>T commonName 7940C>T VWF_c.7940C>T protEffect p.T2647M VWF_c.7940C>T phenoCommon von Willebrand Disease, Type 1 VWF_c.8012G>A commonName 8012G>A VWF_c.8012G>A protEffect p.C2671Y VWF_c.8012G>A phenoCommon von Willebrand Disease, Type 3 VWF_c.8078G>A commonName 8078G>A VWF_c.8078G>A protEffect p.C2693Y VWF_c.8078G>A phenoCommon von Willebrand Disease, Type 1 VWF_c.8155+3G>C commonName 8155+3G>C VWF_c.8155+3G>C phenoCommon von Willebrand Disease, Type 3 VWF_c.8155+3G>T commonName 8155+3G>T VWF_c.8155+3G>T phenoCommon von Willebrand Disease, Type 3 VWF_c.8164C>G commonName 8164C>G VWF_c.8164C>G protEffect p.P2722A VWF_c.8164C>G phenoCommon von Willebrand Disease, Type 1 VWF_c.8187_8194del commonName 8187-8194del8 VWF_c.8187_8194del protEffect p.A2729fs VWF_c.8187_8194del phenoCommon von Willebrand Disease, Type 2A VWF_c.8216G>A commonName 8216G>A VWF_c.8216G>A protEffect p.C2739Y VWF_c.8216G>A phenoCommon von Willebrand Disease, Type 3 VWF_c.8241_8249del commonName 8241del9 VWF_c.8241_8249del phenoCommon von Willebrand Disease, Type 3 VWF_c.8262T>G commonName 8262T>G VWF_c.8262T>G protEffect p.C2754W VWF_c.8262T>G phenoCommon von Willebrand Disease, Type 3 VWF_c.8311T>A commonName 8311T>A VWF_c.8311T>A protEffect p.C2771S VWF_c.8311T>A phenoCommon von Willebrand Disease, Type 2A VWF_c.8312G>A commonName 8312G>A VWF_c.8312G>A protEffect p.C2771Y VWF_c.8312G>A phenoCommon von Willebrand Disease, Type 2A VWF_c.8316delC commonName 8316delC VWF_c.8316delC protEffect p.S2772fs VWF_c.8316delC phenoCommon von Willebrand Disease, Type 2A VWF_c.8317T>C commonName 8317T>C VWF_c.8317T>C protEffect p.C2773R VWF_c.8317T>C phenoCommon von Willebrand Disease, Type 2A VWF_c.8318G>C commonName 8318G>C VWF_c.8318G>C protEffect p.C2773S VWF_c.8318G>C phenoCommon von Willebrand Disease, Type 2A VWF_c.8327C>T commonName 8327C>T VWF_c.8327C>T protEffect p.P2776L VWF_c.8327C>T phenoCommon von Willebrand Disease, Type 1 VWF_c.8341C>T commonName 8341C>T VWF_c.8341C>T protEffect p.P2781S VWF_c.8341C>T phenoCommon von Willebrand Disease, Type 2M VWF_c.8402C>A commonName 8402C>A VWF_c.8402C>A protEffect p.A2801D VWF_c.8402C>A phenoCommon von Willebrand Disease, Type 2A VWF_c.8411G>A commonName 8411G>A VWF_c.8411G>A protEffect p.C2804Y VWF_c.8411G>A phenoCommon von Willebrand Disease, Type 3 VWF_c.8412_8413insTCCCC commonName 8412insTCCCC VWF_c.8412_8413insTCCCC protEffect p.C2804fs VWF_c.8412_8413insTCCCC phenoCommon von Willebrand Disease, Type 1 VWF_c.8416T>C commonName 8416T>C VWF_c.8416T>C protEffect p.C2806R VWF_c.8416T>C phenoCommon von Willebrand Disease, Unclassified VWF_c.-44001_8442*35068del commonName -44001_8442*35068del VWF_c.-44001_8442*35068del phenoCommon von Willebrand Disease, Type 3 VWF_c.-30071_56+3445del commonName -30071_56+3445del VWF_c.-30071_56+3445del phenoCommon von Willebrand Disease, Type 3 VWF_c.221-977_532+7059del commonName 221-977_532+7059del VWF_c.221-977_532+7059del phenoCommon von Willebrand Disease, Type 1 / 3 VWF_c.532+1267_2187-251del commonName 532+1267_2187-251del VWF_c.532+1267_2187-251del phenoCommon von Willebrand Disease, Type 3 VWF_c.3380-298_5843-1385del commonName 3380-298_5843-1385del VWF_c.3380-298_5843-1385del phenoCommon von Willebrand Disease, Unclassified VWF_c.5621-269_6799-1161del commonName 5621-269_6799-1161del VWF_c.5621-269_6799-1161del phenoCommon von Willebrand Disease, Type 3 VWF_c.7081+88_7287+1044del commonName 7081+88_7287+1044del VWF_c.7081+88_7287+1044del phenoCommon von Willebrand Disease, Type 3 VWF_c.-1522_-1510delCATTGTTTCCTTT commonName -1522del CATTGTTTCCTTT VWF_c.-1522_-1510delCATTGTTTCCTTT phenoCommon von Willebrand Disease, Type 1 VWF_c.-1665G>C commonName -1665G>C VWF_c.-1665G>C phenoCommon von Willebrand Disease, Type 1 VWF_c.-1873A>G commonName -1873A>G VWF_c.-1873A>G phenoCommon von Willebrand Disease, Type 1 VWF_c.-1886A>C commonName -1886A>C VWF_c.-1886A>C phenoCommon von Willebrand Disease, Type 1 VWF_c.-1896C>T commonName -1896C>T VWF_c.-1896C>T phenoCommon von Willebrand Disease, Type 1 VWF_c.-2328T>G commonName -2328T>G VWF_c.-2328T>G phenoCommon von Willebrand Disease, Type 1 VWF_c.-2487G>A commonName -2487G>A VWF_c.-2487G>A phenoCommon von Willebrand Disease, Type 1 VWF_c.-2535G>A commonName -2535G>A VWF_c.-2535G>A phenoCommon von Willebrand Disease, Type 1 VWF_c.-2615A>G commonName -2615A>G VWF_c.-2615A>G phenoCommon von Willebrand Disease, Type 1 VWF_c.-2641G>A commonName -2641G>A VWF_c.-2641G>A phenoCommon von Willebrand Disease, Type 1 VWF_c.-2715G>A commonName -2715G>A VWF_c.-2715G>A phenoCommon von Willebrand Disease, Type 1 VWF_c.-2731C>T commonName -2731C>T VWF_c.-2731C>T phenoCommon von Willebrand Disease, Type 1 X-ALD_c.-59C>T commonName c.-59C>T X-ALD_c.-17_8del26 commonName c.-17_8del26 X-ALD_c.-17_8del26 phenoCommon ALDP in fibroblasts is absent X-ALD_c.-24_57del81insA commonName c.-24_57del81insA X-ALD_c.1A>G commonName c.1A>G X-ALD_c.1A>G phenoCommon ALDP in fibroblasts is absent X-ALD_c.2T>A commonName c.2T>A X-ALD_c.2T>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.3G>A commonName c.3G>A X-ALD_c.3G>C commonName c.3G>C X-ALD_c.30G>A commonName 7, 58 X-ALD_c.30G>A alias c.30G>A X-ALD_c.30G>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.38A>C commonName c.38A>C X-ALD_c.[46A>T;706C>T] commonName c.[46A>T;706C>T] X-ALD_c.53_54insGCAC commonName c.53_54insGCAC X-ALD_c.53_54insGCAC phenoCommon ALDP in fibroblasts is absent X-ALD_c.55G>T commonName c.55G>T X-ALD_c.56delC commonName c.56delC X-ALD_c.56delC phenoCommon ALDP in fibroblasts is absent X-ALD_c.67_83del commonName c.67_83del17 X-ALD_c.97_100del commonName c.97_100del4 X-ALD_c.102C>AT commonName c.102C>AT X-ALD_c.109C>G commonName c.109C>G X-ALD_c.110_117del commonName 33, 72 X-ALD_c.110_117del alias c.110_17del8 X-ALD_c.112C>T commonName c.112C>T X-ALD_c.115_31delins3 commonName c.115_31delins3 X-ALD_c.115_31delins3 phenoCommon ALDP in fibroblasts is absent X-ALD_c.119_147del commonName c.119_147del29 X-ALD_c.125delC commonName c.125delC X-ALD_c.125_126insC commonName c.125_26insC X-ALD_c.138_139insT commonName c.138_39insT X-ALD_c.139C>T commonName 33, 58 X-ALD_c.139C>T alias c.139C>T X-ALD_c.145_146ins4 commonName c.145_146ins4 X-ALD_c.145_146ins4 phenoCommon ALDP in fibroblasts is absent X-ALD_c.154G>T commonName c.154G>T X-ALD_c.155_156insG commonName c.155_56insG X-ALD_c.220C>T commonName 32, 97 X-ALD_c.220C>T alias c.220C>T X-ALD_c.220C>T phenoCommon ALDP in fibroblasts is 7.5 ± 0.6% X-ALD_c.225_242del commonName c.225_242del18 X-ALD_c.225_242del phenoCommon ALDP in fibroblasts is absent X-ALD_c.232_240del commonName c.232_40del9 X-ALD_c.234_242del commonName c.234_42del9 X-ALD_c.240_241ins6 commonName c.240_41ins6 X-ALD_c.240_241ins9 commonName c.240_41ins9 X-ALD_c.243_244ins9 commonName 28, 33 X-ALD_c.243_244ins9 alias c.243_44ins9 X-ALD_c.248delT commonName c.248delT X-ALD_c.250C>T commonName c.250C>T X-ALD_c.251C>T commonName c.251C>T X-ALD_c.253_254insC commonName 49, 60, 62 X-ALD_c.253_254insC alias c.253_54insC X-ALD_c.258C>T commonName c.258C>T X-ALD_c.264C>G commonName c.264C>G X-ALD_c.264C>G phenoCommon ALDP in fibroblasts is absent X-ALD_c.268G>A commonName c.268G>A X-ALD_c.268G>T commonName c.268G>T X-ALD_c.270_271delGA commonName c.270-271delGA X-ALD_c.274_311del commonName c.274_311del38 X-ALD_c.277delC commonName c.277delC X-ALD_c.287_288insCC commonName c.287_88insCC X-ALD_c.290A>C commonName c.290A>C X-ALD_c.292T>C commonName c.292T>C X-ALD_c.292T>C phenoCommon ALDP in fibroblasts is decreased X-ALD_c.293C>T commonName 7, 33, 49, 48, 58 X-ALD_c.293C>T alias c.293C>T X-ALD_c.293C>T phenoCommon ALDP in fibroblasts is present X-ALD_c.293C>G commonName c.293C>G X-ALD_c.294_295insC commonName c.294_95insC X-ALD_c.296C>A commonName c.296C>A X-ALD_c.298delG commonName c.298delG X-ALD_c.301T>A commonName c.301T>A X-ALD_c.305T>A commonName c.305T>A X-ALD_c.309C>G commonName 29, 53 X-ALD_c.309C>G alias c.309C>G X-ALD_c.309C>G phenoCommon ALDP in fibroblasts is reduced X-ALD_c.310C>T commonName 13, 16, 33, 42, , 97 X-ALD_c.310C>T alias c.310C>T X-ALD_c.310C>T phenoCommon ALDP in fibroblasts is 35± 3% X-ALD_c.311G>A commonName 4, 32, 33, 49, 47 X-ALD_c.311G>A alias c.311G>A X-ALD_c.311G>T commonName c.311G>T X-ALD_c.313A>C commonName 33, 38 X-ALD_c.313A>C alias c.313A>C X-ALD_c.314C>T commonName c.314C>T X-ALD_c.314C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.319delC commonName c.319delC X-ALD_c.320T>C commonName c.320T>C X-ALD_c.322T>G commonName c.322T>G X-ALD_c.322T>G phenoCommon ALDP in fibroblasts is absent X-ALD_c.323C>A commonName 33, 56 X-ALD_c.323C>A alias c.323C>A X-ALD_c.323C>T commonName 33, 34, 53, 62, 90 X-ALD_c.323C>T alias c.323C>T X-ALD_c.323C>T phenoCommon ALDP in fibroblasts is present X-ALD_c.323C>G commonName 7, 53 X-ALD_c.323C>G alias c.323C>G X-ALD_c.323C>G phenoCommon ALDP in fibroblasts is reduced X-ALD_c.337delC commonName 49, 62, 97 X-ALD_c.337delC alias c.337delC X-ALD_c.337delC phenoCommon ALDP in fibroblasts is 0% X-ALD_c.337C>T commonName c.337C>T X-ALD_c.337C>T phenoCommon ALDP in fibroblasts is present X-ALD_c.338G>C commonName c.338G>C X-ALD_c.341T>C commonName c.341T>C X-ALD_c.341T>C phenoCommon ALDP in fibroblasts is reduced X-ALD_c.346G>A commonName 7, 29, 32, 33, 58 X-ALD_c.346G>A alias c.346G>A X-ALD_c.346G>A phenoCommon ALDP in fibroblasts is present X-ALD_c.347G>A commonName 57, 87, 88 X-ALD_c.347G>A alias c.347G>A X-ALD_c.352_353delCT commonName c.352delCT X-ALD_c.356C>A commonName c.356C>A X-ALD_c.359G>C commonName c.359G>C X-ALD_c.359G>C phenoCommon ALDP in fibroblasts is present X-ALD_c.368T>C commonName c.368C>T X-ALD_c.371G>C commonName c.371G>C X-ALD_c.385_386insT commonName c.385_86insT X-ALD_c.387delT commonName c.387delT X-ALD_c.395G>A commonName 71, 94 X-ALD_c.395G>A alias c.395G>A X-ALD_c.396G>A commonName 33, 52, 59 X-ALD_c.396G>A alias c.396G>A X-ALD_c.397C>T commonName 16, 49 X-ALD_c.397C>T alias c.397C>T X-ALD_c.397C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.401T>G commonName c.401T>G X-ALD_c.401_405delinsAGCATT commonName c.401_05delinsAGCATT X-ALD_c.410G>A commonName c.410G>A X-ALD_c.411G>A commonName 16, 49, 62 X-ALD_c.411G>A alias c.411G>A X-ALD_c.411G>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.412_423del commonName c.412_23del12 X-ALD_c.412_414delCTC commonName 52, 96 X-ALD_c.412_414delCTC alias c.412_14delCTC X-ALD_c.420C>A commonName c.420C>A X-ALD_c.421G>A commonName 13, 33, 64, 88, 93 X-ALD_c.421G>A alias c.421G>A X-ALD_c.422C>T commonName c.422C>T X-ALD_c.427C>T commonName 49, 34, 38, 88 X-ALD_c.427C>T alias c.427C>T X-ALD_c.428C>A commonName c.428C>A X-ALD_c.428C>A phenoCommon ALDP in fibroblasts is present X-ALD_c.428C>T commonName c.428C>T X-ALD_c.432_446delinsCCC commonName c.432_446delinsCCC X-ALD_c.432_446delinsCCC phenoCommon ALDP in fibroblasts is absent X-ALD_c.440T>G commonName c.440T>G X-ALD_c.440T>G phenoCommon ALDP in fibroblasts is present X-ALD_c.442A>G commonName c.442A>G X-ALD_c.442A>T commonName c.442A>T X-ALD_c.442A>T phenoCommon ALDP in fibroblasts is present X-ALD_c.443A>G commonName 7, 8, 24, 33, 38, 60 X-ALD_c.443A>G alias c.443A>G X-ALD_c.443A>G phenoCommon ALDP in fibroblasts is present X-ALD_c.446G>A commonName 16, 32, 49, 97 X-ALD_c.446G>A alias c.446G>A X-ALD_c.446G>A phenoCommon ALDP in fibroblasts is 77 ± 3% X-ALD_c.454C>A commonName 29, 49, 90 X-ALD_c.454C>A alias c.454C>A X-ALD_c.454C>T commonName 7, 13, 33, 49, 52, 63, 88 X-ALD_c.454C>T alias c.454C>T X-ALD_c.454C>T phenoCommon ALDP in fibroblasts is present X-ALD_c.455G>C commonName c.455G>C X-ALD_c.455G>T commonName 33, 49, 52, 58 X-ALD_c.455G>T alias c.455G>T X-ALD_c.455G>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.461T>C commonName 33, 88 X-ALD_c.461T>C alias c.461T>C X-ALD_c.462_481del commonName c.462_81del20 X-ALD_c.469C>T commonName c.469C>T X-ALD_c.469C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.473T>C commonName c.473T>C X-ALD_c.476_499del commonName c.476_99del24 X-ALD_c.479T>C commonName c.479T>C X-ALD_c.481T>C commonName c.481T>C X-ALD_c.482C>A commonName 29, 88 X-ALD_c.482C>A alias c.482C>A X-ALD_c.488G>A commonName c.488G>A X-ALD_c.488G>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.488G>T commonName c.488G>T X-ALD_c.488G>C commonName 49, 41, 33, 57 X-ALD_c.488G>C alias c.488G>C X-ALD_c.494delG commonName c.494delG X-ALD_c.496_497insG commonName c.496_497insG X-ALD_c.510delC commonName c.510delC X-ALD_c.512A>C commonName c.512A>C X-ALD_c.514delC commonName c.514delC X-ALD_c.515_516insC commonName c.515_16insC X-ALD_c.518T>C commonName c.518T>C X-ALD_c.520T>C commonName c.520T>C X-ALD_c.520T>G commonName 8, 15 X-ALD_c.520T>G alias c.520T>G X-ALD_c.521A>G commonName 29, 33, 47, 49, 60, 62, 88, 93 X-ALD_c.521A>G alias c.521A>G X-ALD_c.521A>G phenoCommon ALDP in fibroblasts is absent X-ALD_c.521A>C commonName 1, 33, 60, 88 X-ALD_c.521A>C alias c.521A>C X-ALD_c.521A>C phenoCommon ALDP in fibroblasts is present X-ALD_c.522_524delCTT commonName c.522_24delCTT X-ALD_c.522_524delCTT phenoCommon ALDP in fibroblasts is reduced X-ALD_c.529C>T commonName 29, 32, 33, 49, 60, 62, 86, 88 X-ALD_c.529C>T alias c.529C>T X-ALD_c.529C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.540_541insT commonName c.540_41insT X-ALD_c.540_541insT phenoCommon ALDP in fibroblasts is absent X-ALD_c.541_542delTA commonName c.541_42delTA X-ALD_c.541_542delTA phenoCommon ALDP in fibroblasts is absent X-ALD_c.542A>G commonName 7, 33, 49, 52, 63, 88 X-ALD_c.542A>G alias c.542A>G X-ALD_c.543C>A commonName c.543C>A X-ALD_c.543C>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.544_545insCTACTACC commonName c.544_45insCTACTACC X-ALD_c.545G>C commonName 13, 59 X-ALD_c.545G>C alias c.545G>C X-ALD_c.548T>G commonName c.548T>G X-ALD_c.565C>T commonName 29, 33, 60 X-ALD_c.565C>T alias c.565C>T X-ALD_c.566G>A commonName c.566G>A X-ALD_c.569T>C commonName c.569T>C X-ALD_c.580G>A commonName c.580G>A X-ALD_c.580G>A phenoCommon ALDP in fibroblasts is reduced X-ALD_c.580G>C commonName 16, 58, 97 X-ALD_c.580G>C alias c.580G>C X-ALD_c.580G>C phenoCommon ALDP in fibroblasts is 60 ± 14% X-ALD_c.581_589del commonName c.581_89del X-ALD_c.583C>T commonName c.583C>T X-ALD_c.588_589delTC commonName c.588_89delTC X-ALD_c.591_592insT commonName c.591_92insT X-ALD_c.593C>A commonName c.593C>A X-ALD_c.593C>G commonName c.593C>G X-ALD_c.593C>T commonName c.593C>T X-ALD_c.595G>A commonName c.595G>A X-ALD_c.598G>A commonName c.598G>A X-ALD_c.599A>T commonName c.599A>T X-ALD_c.614C>A commonName c.614C>A X-ALD_c.619_627del commonName c.619_627del X-ALD_c.619_627del phenoCommon ALDP in fibroblasts is absent X-ALD_c.622_623insCGGCCTCTG commonName c.622_23insCGGCCTCTG X-ALD_c.618_630del commonName c.618_30del13 X-ALD_c.621_900+384del664 commonName c.621_900+384del664 X-ALD_c.621_900+384del664 phenoCommon ALDP in fibroblasts is absent X-ALD_c.622_623insG commonName c.622_623insG X-ALD_c.632T>C commonName c.632T>C X-ALD_c.636C>G commonName 4, 38 X-ALD_c.636C>G alias c.636C>G X-ALD_c.638C>G commonName c.638C>G X-ALD_c.640A>G commonName c.640A>G X-ALD_c.643delC commonName c.643delC X-ALD_c.649A>G commonName 49, 48 X-ALD_c.649A>G alias c.649A>G X-ALD_c.649A>G phenoCommon ALDP in fibroblasts is present X-ALD_c.652C>A commonName 29, 49 X-ALD_c.652C>A alias c.652C>A X-ALD_c.652C>A phenoCommon ALDP in fibroblasts is present X-ALD_c.659T>C commonName 16, 97 X-ALD_c.659T>C alias c.659T>C X-ALD_c.659T>C phenoCommon ALDP in fibroblasts is 22 ± 5.4% X-ALD_c.662A>G commonName 7, 33 X-ALD_c.662A>G alias c.662A>G X-ALD_c.662A>G phenoCommon ALDP in fibroblasts is absent X-ALD_c.668C>A commonName c.668C>A X-ALD_c.671T>G commonName c.671T>G X-ALD_c.677delC commonName c.677delC X-ALD_c.684_685insTACAC commonName c.684_85insTACAC X-ALD_c.686T>C commonName 29, 33, 47, 49 X-ALD_c.686T>C alias c.686T>C X-ALD_c.686T>C phenoCommon ALDP in fibroblasts is absent X-ALD_c.692_694delGGGinsC commonName c.692_94delGGGinsC X-ALD_c.693_694delGG commonName 7, 13 X-ALD_c.693_694delGG alias c.693_94delGG X-ALD_c.693_694delGG phenoCommon ALDP in fibroblasts is absent X-ALD_c.696G>T commonName c.696G>T X-ALD_c.695_696insG commonName c.695_96insG X-ALD_c.697_900+25del229 commonName c.697_900+25del229 X-ALD_c.706_709delCGTG commonName c.706_09delCGTG X-ALD_c.[707G>A;1534G>A] commonName c.[707G>A;1534G>A] X-ALD_c.[707G>A;1534G>A] phenoCommon ALDP in fibroblasts is absent X-ALD_c.724_728delTGGCC commonName c.724_28delTGGCC X-ALD_c.725G>A commonName c.725G>A X-ALD_c.726G>A commonName 15, 33, 49, 59 X-ALD_c.726G>A alias c.726G>A X-ALD_c.726G>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.730_731delinsGAGA commonName c.730_31delinsGAGA X-ALD_c.734C>A commonName c.734C>A X-ALD_c.739delG commonName c.739delG X-ALD_c.739_740insGCCATCG commonName c.739_40insGCCATCG X-ALD_c.742_745delGGCC commonName c.742_45delGGCC X-ALD_c.748_759del commonName c.748_59del12 X-ALD_c.749_751delTGG commonName c.749_51delTGG X-ALD_c.757_65delins4 commonName c.757_65delins4 X-ALD_c.[757C>G;1817C>T] commonName c.[757C>G;1817C>T] X-ALD_c.760A>G commonName 33, 58 X-ALD_c.760A>G alias c.760A>G X-ALD_c.760A>G phenoCommon ALDP in fibroblasts is present X-ALD_c.760A>C commonName 33, 90 X-ALD_c.760A>C alias c.760A>C X-ALD_c.761delC commonName c.761delC X-ALD_c.761C>A commonName 33, 52 X-ALD_c.761C>A alias c.761C>A X-ALD_c.761C>T commonName 15, 33 X-ALD_c.761C>T alias c.761C>T X-ALD_c.773T>C commonName c.773T>C X-ALD_c.775C>T commonName c.775C>T X-ALD_c.784_785delTC commonName c.784delTC X-ALD_c.785_791del commonName c.785_91del7 X-ALD_c.785C>G commonName c.785C>G X-ALD_c.787C>T commonName c.787C>T X-ALD_c.788C>T commonName c.788C>T X-ALD_c.788C>T phenoCommon ALDP in fibroblasts is reduced X-ALD_c.790A>T commonName c.790A>T X-ALD_c.796G>A commonName 8, 16, 24, 33, 49, 52, 53, 59, 62, 72, 88, 93, 96 X-ALD_c.796G>A alias c.796G>A X-ALD_c.796G>A phenoCommon ALDP in fibroblasts is present X-ALD_c.797G>A commonName c.797G>A X-ALD_c.799G>A commonName c.799G>A X-ALD_c.799G>T commonName c.799G>T X-ALD_c.799delG commonName c.799delG X-ALD_c.811G>A commonName c.811G>A X-ALD_c.815_817delAGG commonName c.815_17delAGG X-ALD_c.818C>A commonName c.818C>A X-ALD_c.818C>A phenoCommon ALDP in fibroblasts is present X-ALD_c.[820C>T;838C>T] commonName c.[820C>T;838C>T] X-ALD_c.826A>G commonName 22, 86 X-ALD_c.826A>G alias c.826A>G X-ALD_c.826A>G phenoCommon ALDP in fibroblasts is present X-ALD_c.828_829insAAT commonName c.828_29insAAT X-ALD_c.829G>A commonName 15, 33, 60, 90 X-ALD_c.829G>A alias c.829G>A X-ALD_c.829G>A phenoCommon ALDP in fibroblasts is present X-ALD_c.829G>C commonName c.829G>C X-ALD_c.829G>C phenoCommon ALDP in fibroblasts is present X-ALD_c.829G>T commonName c.829G>T X-ALD_c.830G>A commonName c.830G>A X-ALD_c.832G>T commonName c.832G>T X-ALD_c.832G>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.836T>C commonName c.836T>C X-ALD_c.836T>C phenoCommon ALDP in fibroblasts is absent X-ALD_c.838C>T commonName 33, 50, 60 X-ALD_c.838C>T alias c.838C>T X-ALD_c.838C>T phenoCommon ALDP in fibroblasts is present X-ALD_c.839G>T commonName 55, 93 X-ALD_c.839G>T alias c.839G>T X-ALD_c.847C>T commonName c.847C>T X-ALD_c.847C>G commonName 64, 93 X-ALD_c.847C>G alias c.847C>G X-ALD_c.848A>G commonName 89, 93 X-ALD_c.848A>G alias c.848A>G X-ALD_c.851C>A commonName c.851C>A X-ALD_c.851C>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.852_853insACTC commonName 33, 82 X-ALD_c.852_853insACTC alias c.852_53insACTC X-ALD_c.852_853insG commonName c.852_53insG X-ALD_c.854G>C commonName 27, 49 X-ALD_c.854G>C alias c.854G>C X-ALD_c.869C>G commonName c.869C>G X-ALD_c.869C>A commonName c.869C>A X-ALD_c.869C>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.871_873delGAG commonName 15, 22, 24, 31, 33, 49 X-ALD_c.871_873delGAG alias c.871_73delGAG X-ALD_c.871_873delGAG phenoCommon ALDP in fibroblasts is absent X-ALD_c.871G>A commonName 5, 58, 60, 64 X-ALD_c.871G>A alias c.871G>A X-ALD_c.871G>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.873G>C commonName c.873G>C X-ALD_c.873G>C phenoCommon ALDP in fibroblasts is absent X-ALD_c.880G>A commonName 7, 32 X-ALD_c.880G>A alias c.880G>A X-ALD_c.881C>T commonName c.881C>T X-ALD_c.886_899del commonName c.886_99del14 X-ALD_c.886T>C commonName c.886T>C X-ALD_c.887A>G commonName 24, 33, 49, 52, 62, 64, 88 X-ALD_c.887A>G alias c.887A>G X-ALD_c.887A>G phenoCommon ALDP in fibroblasts is present X-ALD_c.887A>C commonName c.887A>C X-ALD_c.888T>G commonName c.888T>G X-ALD_c.888T>G phenoCommon ALDP in fibroblasts is absent X-ALD_c.892_896delinsGTCA commonName c.892_96delinsGTCA X-ALD_c.892_896delinsGTCA phenoCommon ALDP in fibroblasts is absent X-ALD_c.893_894delinsT commonName c.893_94delinsT X-ALD_c.893_894insG commonName c.893_894insG X-ALD_c.892G>A commonName 32, 33 X-ALD_c.892G>A alias c.892G>A X-ALD_c.893G>A commonName 29, 38, 58 X-ALD_c.893G>A alias c.893G>A X-ALD_c.893G>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.893G>T commonName c.893G>T X-ALD_c.892_893insGC commonName c.892_93insGC X-ALD_c.892_893insGC phenoCommon ALDP in fibroblasts is absent X-ALD_c.900G>A commonName 33, 53 X-ALD_c.900G>A alias c.900G>A X-ALD_c.900+1G>T commonName 49, 64 X-ALD_c.900+1G>T alias c.900+1G>T X-ALD_c.901-10C>T commonName c.901-10C>T X-ALD_c.901-5C>A commonName c.901-5C>A X-ALD_c.901-2A>C commonName c.901-2A>C X-ALD_c.901-1G>A commonName 49, 62 X-ALD_c.901-1G>A alias c.901-1G>A X-ALD_c.904G>A commonName 21, 72 X-ALD_c.904G>A alias c.904G>A X-ALD_c.904G>A phenoCommon ALDP in fibroblasts is present X-ALD_c.904G>C commonName c.904G>C X-ALD_c.904G>C phenoCommon ALDP in fibroblasts is reduced X-ALD_c.905A>G commonName c.905A>G X-ALD_c.910delG commonName c.910delG X-ALD_c.919C>T commonName 62, 63 X-ALD_c.919C>T alias c.919C>T X-ALD_c.931C>T commonName 2, 60 X-ALD_c.931C>T alias c.931C>T X-ALD_c.931C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.933_934insA commonName c.933_34insA X-ALD_c.933_934insA phenoCommon ALDP in fibroblasts is absent X-ALD_c.937delC commonName 35, 64 X-ALD_c.937delC alias c.937delC X-ALD_c.938T>C commonName 33, 90 X-ALD_c.938T>C alias c.938T>C X-ALD_c.940G>C commonName c.940G>C X-ALD_c.943delT commonName c.943delT X-ALD_c.943delT phenoCommon ALDP in fibroblasts is absent X-ALD_c.944C>A commonName c.944C>A X-ALD_c.965T>C commonName 26, 39, 62 X-ALD_c.965T>C alias c.965T>C X-ALD_c.974T>C commonName c.974T>C X-ALD_c.977G>A commonName 2, 60 X-ALD_c.977G>A alias c.977G>A X-ALD_c.979_980insT commonName c.979_80insT X-ALD_c.979_980insT phenoCommon ALDP in fibroblasts is absent X-ALD_c.981T>A commonName c.981T>A X-ALD_c.986T>G commonName c.986T>G X-ALD_c.988_1005del commonName c.988_1005del18 X-ALD_c.991G>A commonName c.991G>A X-ALD_c.994C>T commonName c.994C>T X-ALD_c.994C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1001T>C commonName c.1001T>C X-ALD_c.1004T>G commonName c.1004T>G X-ALD_c.1007A>T commonName c.1007A>T X-ALD_c.1008G>T commonName c.1008G>T X-ALD_c.1009T>C commonName c.1009T>C X-ALD_c.1011T>A commonName c.1011T>A X-ALD_c.1016G>A commonName c.1016G>A X-ALD_c.1024T>C commonName c.1024T>C X-ALD_c.1024T>C phenoCommon ALDP in fibroblasts is present X-ALD_c.1027G>A commonName c.1027G>A X-ALD_c.1028G>A commonName c.1028G>A X-ALD_c.1028G>T commonName 64, 93 X-ALD_c.1028G>T alias c.1028G>T X-ALD_c.1031T>C commonName c.1031T>C X-ALD_c.1072T>C commonName c.1072T>C X-ALD_c.1073C>G commonName c.1073C>G X-ALD_c.1076_1077delAG commonName c.1076_77delAG X-ALD_c.1079C>G commonName c.1079C>G X-ALD_c.1081+1G>T commonName c.1081+1G>T X-ALD_c.1082-3C>G commonName c.1082-3C>G X-ALD_c.1082-3C>G phenoCommon ALDP in fibroblasts is absent X-ALD_c.1092delC commonName c.1092delC X-ALD_c.1092_1093insA commonName c.1092_93insA X-ALD_c.1114A>T commonName c.1114A>T X-ALD_c.1117_1119delAAG commonName c.1117_19delAAG X-ALD_c.1135_1136insC commonName c.1135_36insC X-ALD_c.1135_1136insC phenoCommon ALDP in fibroblasts is absent X-ALD_c.1137_1138insC commonName c.1137_38insC X-ALD_c.1155delC commonName c.1155delC X-ALD_c.1159delA commonName c.1159delA X-ALD_c.1163_1164insG commonName c.1163_64insG X-ALD_c.1163_1164insG phenoCommon ALDP in fibroblasts is absent X-ALD_c.1165C>G commonName 15, 60 X-ALD_c.1165C>G alias c.1165C>G X-ALD_c.1165C>T commonName c.1165C>T X-ALD_c.1166G>A commonName 13, 16, 33, 60, 97 X-ALD_c.1166G>A alias c.1166G>A X-ALD_c.1166G>A phenoCommon ALDP in fibroblasts is 41 ± 4% X-ALD_c.1171_1180del commonName c.1171_80del10 X-ALD_c.1172T>C commonName c.1172T>C X-ALD_c.1174C>G commonName 33, 88 X-ALD_c.1174C>G alias c.1174C>G X-ALD_c.1186G>A commonName 33, 60 X-ALD_c.1186G>A alias c.1186G>A X-ALD_c.1186G>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.1201C>T commonName 24, 29, 33, 51, 87, 88, 96 X-ALD_c.1201C>T alias c.1201C>T X-ALD_c.1202G>A commonName 8, 15, 22, 29, 32, 33, 40, 47, 49,, 60, 71, 72, 86, 88, 93 X-ALD_c.1202G>A alias c.1202G>A X-ALD_c.1202G>A phenoCommon ALDP in fibroblasts is present X-ALD_c.1210T>C commonName c.1210T>C X-ALD_c.1212_1214delGTC commonName c.1212_1214delGTC X-ALD_c.1219A>T commonName c.1219A>T X-ALD_c.1224G>A commonName 13, 33 X-ALD_c.1224G>A alias c.1224G>A X-ALD_c.[1224+1GT>TG;1165C>T] commonName c.[1224+1GT>TG;1165C>T] X-ALD_c.1224+2C>T commonName c.1224+2C>T X-ALD_c.1225-7_1239del22 commonName c.1225-7_1239del22 X-ALD_c.1225-2A>C commonName c.1225-2A>C X-ALD_c.1237G>A commonName c.1237G>A X-ALD_c.1237G>C commonName c.1237G>C X-ALD_c.1244A>G commonName c.1244A>G X-ALD_c.1248delA commonName c.1248delA X-ALD_c.1250delC commonName c.1250delC X-ALD_c.1250delC phenoCommon ALDP in fibroblasts is absent X-ALD_c.1252C>T commonName 8, 15, 28, 29, 33, 40, 58 X-ALD_c.1252C>T alias c.1252C>T X-ALD_c.1252C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1263delG commonName c.1263delG X-ALD_c.1270delC commonName c.1270delC X-ALD_c.1279_1281delGAA commonName c.1279_81delGAA X-ALD_c.1288C>T commonName 33, 49 X-ALD_c.1288C>T alias c.1288C>T X-ALD_c.1315G>T commonName c.1315G>T X-ALD_c.1315G>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1322_1323insA commonName c.1322_23insA X-ALD_c.1322_1323insA phenoCommon ALDP in fibroblasts is absent X-ALD_c.1330C>T commonName 32, 60 X-ALD_c.1330C>T alias c.1330C>T X-ALD_c.1359delT commonName c.1359delT X-ALD_c.1359delT phenoCommon ALDP in fibroblasts is absent X-ALD_c.1372G>T commonName c.1372G>T X-ALD_c.1390C>T commonName 6, 33, 49, 47, 64, 96 X-ALD_c.1390C>T alias c.1390C>T X-ALD_c.1390C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1394-2A>G commonName 32, 75 X-ALD_c.1394-2A>G alias c.1394-2A>G X-ALD_c.1396C>T commonName c.1396C>T X-ALD_c.[1399G>A;1850G>A] commonName c.[1399G>A;1850G>A] X-ALD_c.1411_1412insA commonName c.1411_12insA X-ALD_c.1412_1413delAA commonName c.1412_13delAA X-ALD_c.1414_1415insC commonName c.1414_15insC X-ALD_c.1415_1416delAG commonName 1, 7, 8, 10, 13, 15, 24, 29, 32, 33, 36, 40, 43, 48,, 49, 53, 58, 59, 60, 62, 63, 64, 85, 86, 88, 93 X-ALD_c.1415_1416delAG alias c.1415_16delAG X-ALD_c.1415_1416delAG phenoCommon ALDP in fibroblasts is absent X-ALD_c.1416_1417delGG commonName c.1416_17delGG X-ALD_c.1420delA commonName c.1420delA X-ALD_c.1420delA phenoCommon ALDP in fibroblasts is absent X-ALD_c.1422_1426delCATCT commonName c.1422_26delCATCT X-ALD_c.1421T>C commonName 33, 88 X-ALD_c.1421T>C alias c.1421T>C X-ALD_c.1429G>T commonName 8, 15, 33 X-ALD_c.1429G>T alias c.1429G>T X-ALD_c.1430delA commonName c.1430delA X-ALD_c.1436delT commonName c.1436delT X-ALD_c.[1438C>A;901-5c>a] commonName c.[1438C>A;901-5c>a] X-ALD_c.1451C>G commonName c.1451C>G X-ALD_c.1451C>G phenoCommon ALDP in fibroblasts is absent X-ALD_c.1462_1463insTGG commonName c.1462_63insTGG X-ALD_c.1462_1463insTGG phenoCommon ALDP in fibroblasts is absent X-ALD_c.1469_1471delTGG commonName c.1469_71delTGG X-ALD_c.1470_1471insGTG commonName c.1470_71insGTG X-ALD_c.1470_1471insGTG phenoCommon ALDP in fibroblasts is absent X-ALD_c.1478T>C commonName c.1478T>C X-ALD_c.1481delA commonName c.1481delA X-ALD_c.1488+1G>A commonName c.1488+1G>A X-ALD_c.1499G>T commonName c.1499G>T X-ALD_c.1501A>C commonName c.1501A>C X-ALD_c.1501A>C phenoCommon ALDP in fibroblasts is present X-ALD_c.1505_1506insC commonName c.1505_06insC X-ALD_c.1508_1509insC commonName c.1508_09insC X-ALD_c.1508T>C commonName c.1508T>C X-ALD_c.1514T>C commonName c.1514T>C X-ALD_c.1515C>G commonName c.1515C>G X-ALD_c.1515C>G phenoCommon ALDP in fibroblasts is reduced X-ALD_c.1519G>A commonName c.1519G>A X-ALD_c.1520G>A commonName 68, 88 X-ALD_c.1520G>A alias c.1520G>A X-ALD_c.1520G>T commonName c.1520G>T X-ALD_c.1523C>T commonName c.1523C>T X-ALD_c.1526A>T commonName 33, 59 X-ALD_c.1526A>T alias c.1526A>T X-ALD_c.1528G>A commonName c.1528G>A X-ALD_c.1529G>A commonName 33, 64 X-ALD_c.1529G>A alias c.1529G>A X-ALD_c.1531T>C commonName c.1531T>C X-ALD_c.1532G>A commonName c.1532G>A X-ALD_c.1533C>A commonName c.1533C>A X-ALD_c.1534G>T commonName c.1534G>T X-ALD_c.1534G>A commonName 7, 13, 23, 33, 57, 58, 76, 88, 93 X-ALD_c.1534G>A alias c.1534G>A X-ALD_c.1534G>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.1537A>C commonName 33, 69 X-ALD_c.1537A>C alias c.1537A>C X-ALD_c.1538A>G commonName c.1538A>G X-ALD_c.1538A>G phenoCommon ALDP in fibroblasts is absent X-ALD_c.1540A>C commonName c.1540A>C X-ALD_c.1540A>G commonName c.1540A>G X-ALD_c.1541G>A commonName c.1541G>A X-ALD_c.1541G>A phenoCommon ALDP in fibroblasts is reduced X-ALD_c.1544C>T commonName 8, 51 X-ALD_c.1544C>T alias c.1544C>T X-ALD_c.1547T>C commonName 33, 58, 71 X-ALD_c.1547T>C alias c.1547T>C X-ALD_c.1547T>C phenoCommon ALDP in fibroblasts is absent X-ALD_c.1548G>A commonName c.1548G>A X-ALD_c.1551delC commonName 6, 33 X-ALD_c.1551delC alias c.1551delC X-ALD_c.1552C>G commonName c.1552C>G X-ALD_c.1552C>T commonName 6, 7, 32, 33, 53, 58, 88 X-ALD_c.1552C>T alias c.1552C>T X-ALD_c.1552C>T phenoCommon ALDP in fibroblasts is abs/red X-ALD_c.1553G>A commonName 9, 24, 32, 33, 49, 48, 53, 58, 60, 64, 88, 96 X-ALD_c.1553G>A alias c.1553G>A X-ALD_c.1553G>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.1559T>A commonName 54, 59 X-ALD_c.1559T>A alias c.1559T>A X-ALD_c.1564G>A commonName 7, 58 X-ALD_c.1564G>A alias c.1564G>A X-ALD_c.1564G>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.1567C>T commonName c.1567C>T X-ALD_c.1568T>C commonName c.1568T>C X-ALD_c.1570T>C commonName c.1570T>C X-ALD_c.1571G>A commonName c.1571G>A X-ALD_c.1571G>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.1573C>G commonName c.1573C>G X-ALD_c.1573C>T commonName c.1573C>T X-ALD_c.1573C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1585_1587delGGT commonName c.1585-87delGGT X-ALD_c.1585delG commonName 21, 62 X-ALD_c.1585delG alias c.1585delG X-ALD_c.1586_1590delGTGTG commonName c.1586_90delGTGTG X-ALD_c.1586_1590delGTGTG phenoCommon ALDP in fibroblasts is absent X-ALD_c.1585G>A commonName c.1585G>A X-ALD_c.1586G>A commonName c.1586G>A X-ALD_c.1592_1593insT commonName c.1592_93insT X-ALD_c.1597A>G commonName c.1597A>G X-ALD_c.1597A>G phenoCommon ALDP in fibroblasts is absent X-ALD_c.1599G>T commonName c.1599G>T X-ALD_c.1600C>T commonName c.1600C>T X-ALD_c.1601C>G commonName 67, 86 X-ALD_c.1601C>G alias c.1601C>G X-ALD_c.1601C>T commonName c.1601C>T X-ALD_c.1601C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1598_1599insA commonName c.1598_99insA X-ALD_c.1599delG commonName c.1599delG X-ALD_c.1599delG phenoCommon ALDP in fibroblasts is absent X-ALD_c.1603_1604delCC commonName c.1603_04delCC X-ALD_c.1603_1991del commonName c.1603_1991del X-ALD_c.1603_1991del phenoCommon ALDP in fibroblasts is absent X-ALD_c.1607C>A commonName c.1607C>A X-ALD_c.1609C>T commonName c.1609C>T X-ALD_c.1619T>C commonName c.1619T>C X-ALD_c.1619T>G commonName c.1619T>G X-ALD_c.1624_1626delATC commonName c.1624_26delATC X-ALD_c.1628delC commonName c.1628delC X-ALD_c.1628C>T commonName 27, 29, 33, 40, 49, 60, 65 X-ALD_c.1628C>T alias c.1628C>T X-ALD_c.1628C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1630C>A commonName c.1630C>A X-ALD_c.1630C>A phenoCommon ALDP in fibroblasts is reduced X-ALD_c.1631A>G commonName 9, 33, 24, 88 X-ALD_c.1631A>G alias c.1631A>G X-ALD_c.1631A>G phenoCommon ALDP in fibroblasts is present X-ALD_c.1628_34duplication commonName c.1628_34duplication X-ALD_c.1628_34duplication phenoCommon ALDP in fibroblasts is absent X-ALD_c.1633A>T commonName c.1633A>T X-ALD_c.1634+1G>A commonName 6, 60 X-ALD_c.1634+1G>A alias c.1634+1G>A X-ALD_c.1634+1G>C commonName c.1634+1G>C X-ALD_c.1635-2A>G commonName c.1635-2A>G X-ALD_c.1635-2A>G phenoCommon ALDP in fibroblasts is absent X-ALD_c.1654T>C commonName c.1654T>C X-ALD_c.1654T>C phenoCommon ALDP in fibroblasts is absent X-ALD_c.1657C>G commonName c.1657C>G X-ALD_c.1661G>A commonName 28, 29, 33, 49, 52, 58, 60, 63, 64, 87, 88, 97 X-ALD_c.1661G>A alias c.1661G>A X-ALD_c.1661G>A phenoCommon ALDP in fibroblasts is 1 ± 0.5% X-ALD_c.1663G>A commonName c.1663G>A X-ALD_c.1666C>T commonName c.1666C>T X-ALD_c.1666C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1667A>G commonName 40, 59 X-ALD_c.1667A>G alias c.1667A>G X-ALD_c.1670_1671delTG commonName c.1670_71delTG X-ALD_c.1673T>C commonName c.1673T>C X-ALD_c.1673T>C phenoCommon ALDP in fibroblasts is present X-ALD_c.1676A>G commonName c.1676A>G X-ALD_c.1678C>T commonName c.1678C>T X-ALD_c.1679C>T commonName 4, 7, 24, 33, 49, 71, 86, 88, 93, 96 X-ALD_c.1679C>T alias c.1679C>T X-ALD_c.1679C>T phenoCommon ALDP in fibroblasts is reduced X-ALD_c.1679C>G commonName c.1679C>G X-ALD_c.1679C>G phenoCommon ALDP in fibroblasts is absent X-ALD_c.1682A>T commonName c.1682A>T X-ALD_c.1682A>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1697T>A commonName c.1697T>A X-ALD_c.1697T>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.1697T>C commonName c.1697T>C X-ALD_c.1697T>C phenoCommon ALDP in fibroblasts is absent X-ALD_c.1699C>T commonName 33, 60 X-ALD_c.1699C>T alias c.1699C>T X-ALD_c.1714_1725del commonName c.1714_1725del12 X-ALD_c.1715C>A commonName c.1715C>A X-ALD_c.1715C>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.1717delG commonName c.1717delG X-ALD_c.1720C>T commonName 53, 58 X-ALD_c.1720C>T alias c.1720C>T X-ALD_c.1720C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1727T>C commonName c.1727T>C X-ALD_c.1746delC commonName c.1746delC X-ALD_c.1748T>G commonName c.1748T>G X-ALD_c.1754T>C commonName c.1754T>C X-ALD_c.1755delG commonName c.1755delG X-ALD_c.1759_1770del commonName c.1759_70del12 X-ALD_c.1765delC commonName c.1765delC X-ALD_c.1768C>T commonName 20, 88 X-ALD_c.1768C>T alias c.1768C>T X-ALD_c.1771delC commonName c.1771delC X-ALD_c.1771C>T commonName 24, 33, 53, 72 X-ALD_c.1771C>T alias c.1771C>T X-ALD_c.1771C>T phenoCommon ALDP in fibroblasts is present X-ALD_c.1772G>C commonName 49, 44 X-ALD_c.1772G>C alias c.1772G>C X-ALD_c.1772G>C phenoCommon ALDP in fibroblasts is absent X-ALD_c.1772G>A commonName 13, 33, 78 X-ALD_c.1772G>A alias c.1772G>A X-ALD_c.1772G>A phenoCommon ALDP in fibroblasts is present X-ALD_c.1780G>C commonName c.1780G>C X-ALD_c.1780+1G>A commonName 7, 53 X-ALD_c.1780+1G>A alias c.1780+1G>A X-ALD_c.1780+2T>G commonName 38, 58 X-ALD_c.1780+2T>G alias c.1780+2T>G X-ALD_c.1781-2A>G commonName 32, 33 X-ALD_c.1781-2A>G alias c.1781-2A>G X-ALD_c.1781-1G>A commonName c.1781-1G>A X-ALD_c.1781-1G>T commonName c.1781-1G>T X-ALD_c.1784G>A commonName c.1784G>A X-ALD_c.1785G>A commonName 24, 59 X-ALD_c.1785G>A alias c.1785G>A X-ALD_c.1790C>G commonName c.1790C>G X-ALD_c.1790C>G phenoCommon ALDP in fibroblasts is absent X-ALD_c.1791_1792delTA commonName c.1791_92delTA X-ALD_c.1791_1792delTA phenoCommon ALDP in fibroblasts is absent X-ALD_c.1802G>A commonName 27, 33, 53, 79 X-ALD_c.1802G>A alias c.1802G>A X-ALD_c.1802G>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.1803G>A commonName c.1803G>A X-ALD_c.1804A>T commonName c.1804A>T X-ALD_c.1814T>A commonName c.1814T>A X-ALD_c.1814T>C commonName c.1814T>C X-ALD_c.1816T>C commonName 7, 72, 96 X-ALD_c.1816T>C alias c.1816T>C X-ALD_c.1816T>C phenoCommon ALDP in fibroblasts is absent X-ALD_c.1817C>T commonName 6, 13, 24, 33, 49, 52, 57, 59, 60, 97 X-ALD_c.1817C>T alias c.1817C>T X-ALD_c.1817C>T phenoCommon ALDP in fibroblasts is 25 ± 1.5% X-ALD_c.1820delG commonName c.1820delG X-ALD_c.1820delG phenoCommon ALDP in fibroblasts is absent X-ALD_c.1820G>A commonName 52, 58 X-ALD_c.1820G>A alias c.1820G>A X-ALD_c.1820G>A phenoCommon ALDP in fibroblasts is present X-ALD_c.1822G>A commonName c.1822G>A X-ALD_c.1823G>A commonName c.1823G>A X-ALD_c.1825G>A commonName 15, 16, 33, 49, 60, 62, 72, 88, 97 X-ALD_c.1825G>A alias c.1825G>A X-ALD_c.1825G>A phenoCommon ALDP in fibroblasts is 2.1 ± 1.3% X-ALD_c.1826A>G commonName 16, 97 X-ALD_c.1826A>G alias c.1826A>G X-ALD_c.1826A>G phenoCommon ALDP in fibroblasts is 1.8 ± 0.9% X-ALD_c.1833G>C commonName c.1833G>C X-ALD_c.1838T>A commonName c.1838T>A X-ALD_c.1846G>A commonName 32, 97 X-ALD_c.1846G>A alias c.1846G>A X-ALD_c.1846G>A phenoCommon ALDP in fibroblasts is 4.3 ± 1.7% X-ALD_c.1847C>A commonName c.1847C>A X-ALD_c.1847C>T commonName c.1847C>T X-ALD_c.1849delC commonName c.1849delC X-ALD_c.1849delC phenoCommon ALDP in fibroblasts is absent X-ALD_c.1849C>T commonName 6, 15, 16, 33, 49, 59, 60, 86, 88 X-ALD_c.1849C>T alias c.1849C>T X-ALD_c.1849C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1849C>G commonName 15, 33, 64, 86 X-ALD_c.1849C>G alias c.1849C>G X-ALD_c.1849C>A commonName c.1849C>A X-ALD_c.1850G>A commonName 6, 13, 17, 33, 49, 57, 62, 88, 96 X-ALD_c.1850G>A alias c.1850G>A X-ALD_c.1850G>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.1850G>T commonName c.1850G>T X-ALD_c.1850G>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1859delA commonName c.1859delA X-ALD_c.1859A>G commonName c.1859A>G X-ALD_c.1859A>G phenoCommon ALDP in fibroblasts is absent X-ALD_c.1865+1G>A commonName c.1865+1G>A X-ALD_c.1865+1G>T commonName c.1865+1G>T X-ALD_c.1866-15g>a commonName c.1866-15g>a X-ALD_c.1866-10G>A commonName 11, 29, 30, 32, 33, 58, 72 X-ALD_c.1866-10G>A alias c.1866-10G>A X-ALD_c.1866-10G>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.1866-2A>T commonName c.1866-2A>T X-ALD_c.1866-2A>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1876G>A commonName 22, 33, 49, 96 X-ALD_c.1876G>A alias c.1876G>A X-ALD_c.1876G>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.1877C>A commonName c.1877C>A X-ALD_c.1883T>C commonName 33, 60 X-ALD_c.1883T>C alias c.1883T>C X-ALD_c.1883T>C phenoCommon ALDP in fibroblasts is absent X-ALD_c.1885G>C commonName c.1885G>C X-ALD_c.1885G>C phenoCommon ALDP in fibroblasts is present X-ALD_c.1888G>A commonName c.1888G>A X-ALD_c.1889A>G commonName c.1889A>G X-ALD_c.1891T>C commonName 32, 33, 60 X-ALD_c.1891T>C alias c.1891T>C X-ALD_c.1891T>C phenoCommon ALDP in fibroblasts is absent X-ALD_c.1892G>A commonName 33, 49, 76, 93 X-ALD_c.1892G>A alias c.1892G>A X-ALD_c.1893C>G commonName c.1893C>G X-ALD_c.1894A>C commonName 33, 96 X-ALD_c.1894A>C alias c.1894A>C X-ALD_c.1895C>T commonName 33, 49, 58 X-ALD_c.1895C>T alias c.1895C>T X-ALD_c.1895C>T phenoCommon ALDP in fibroblasts is present X-ALD_c.1899delC commonName c.1899delC X-ALD_c.1898G>T commonName c.1898G>T X-ALD_c.1898G>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1899C>A commonName 29, , 96 X-ALD_c.1899C>A alias c.1899C>A X-ALD_c.1899C>T commonName c.1899C>T X-ALD_c.1903G>A commonName 49, 58 X-ALD_c.1903G>A alias c.1903G>A X-ALD_c.1903G>A phenoCommon ALDP in fibroblasts is present X-ALD_c.1903_1904insCCA commonName c.1903_04insCCA X-ALD_c.1903_1904insCCA phenoCommon ALDP in fibroblasts is present X-ALD_c.1907_1925del commonName c.1907_25del19 X-ALD_c.1907G>T commonName 27, 42 X-ALD_c.1907G>T alias c.1907G>T X-ALD_c.1907G>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1912G>T commonName c.1912G>T X-ALD_c.1918G>A commonName c.1918G>A X-ALD_c.1926_1927insCAAG commonName c.1926-1927insCAAG X-ALD_c.1933C>T commonName 22, 33 X-ALD_c.1933C>T alias c.1933C>T X-ALD_c.1933C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1936G>C commonName 29, 33 X-ALD_c.1936G>C alias c.1936G>C X-ALD_c.1939_1940insGG commonName 71, 72 X-ALD_c.1939_1940insGG alias c.1939_40insGG X-ALD_c.1939_1940insGG phenoCommon ALDP in fibroblasts is absent X-ALD_c.1942A>T commonName c.1942A>T X-ALD_c.1948_1949delGC commonName c.1948_49delGC X-ALD_c.1948_1949delGC phenoCommon ALDP in fibroblasts is absent X-ALD_c.1961T>G commonName c.1961T>G X-ALD_c.1961T>C commonName 49, 62, 97 X-ALD_c.1961T>C alias c.1961T>C X-ALD_c.1961T>C phenoCommon ALDP in fibroblasts is 1.5 ± 1.3% X-ALD_c.1964T>C commonName c.1964T>C X-ALD_c.1964T>C phenoCommon ALDP in fibroblasts is reduced X-ALD_c.1967C>T commonName c.1967C>T X-ALD_c.1967C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1969_1971delATC commonName c.1969_71delATC X-ALD_c.1970_1972delTCA commonName c.1970_72delTCA X-ALD_c.1973C>T commonName c.1973C>T X-ALD_c.1973C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1978C>T commonName 7, 13, 16, 23, 24, 32, 33, 49, 53, 57, 60, 88, 97 X-ALD_c.1978C>T alias c.1978C>T X-ALD_c.1978C>T phenoCommon ALDP in fibroblasts is 1.6 ± 0.8% X-ALD_c.1979G>A commonName c.1979G>A X-ALD_c.1979G>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.1979G>C commonName c.1979G>C X-ALD_c.1982_1983delCC commonName c.1982-1983delCC X-ALD_c.1988T>A commonName c.1988T>A X-ALD_c.1988T>A phenoCommon ALDP in fibroblasts is reduced X-ALD_c.1988_1989insT commonName c.1988_89insT X-ALD_c.1991+1G>A commonName c.1991+1G>A X-ALD_c.1991+2T>C commonName c.1991+2T>C X-ALD_c.1992-1G>A commonName c.1992-1G>A X-ALD_c.1993_1995delinsGAG commonName c.1993_95delinsGAG X-ALD_c.1993_1995delinsGAG phenoCommon ALDP in fibroblasts is present X-ALD_c.1997A>C commonName c.1997A>C X-ALD_c.1998C>G commonName c.1998C>G X-ALD_c.1999C>G commonName 49, 62, 90, 97 X-ALD_c.1999C>G alias c.1999C>G X-ALD_c.1999C>G phenoCommon ALDP in fibroblasts is 2.9 ± 1% X-ALD_c.2000A>G commonName c.2000A>G X-ALD_c.2000A>T commonName c.2000A>T X-ALD_c.2000A>T phenoCommon ALDP in fibroblasts is reduced X-ALD_c.1999_2000delCA commonName c.1999_2000delCA X-ALD_c.2002A>C commonName c.2002A>C X-ALD_c.2003C>T commonName c.2003C>T X-ALD_c.2003C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.2006_2007delAC commonName c.2006_2007delAC X-ALD_c.2006A>G commonName 33, 58 X-ALD_c.2006A>G alias c.2006A>G X-ALD_c.2006A>G phenoCommon ALDP in fibroblasts is absent X-ALD_c.2007C>G commonName c.2007C>G X-ALD_c.2010_2011insT commonName c.2010_11insT X-ALD_c.2014C>T commonName 25, 33, 88 X-ALD_c.2014C>T alias c.2014C>T X-ALD_c.2014C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.2019C>T commonName c.2019C>T X-ALD_c.2026G>T commonName c.2026G>T X-ALD_c.2030G>A commonName c.2030G>A X-ALD_c.2035T>C commonName 14, 88 X-ALD_c.2035T>C alias c.2035T>C X-ALD_c.2036G>A commonName c.2036G>A X-ALD_c.2037G>A commonName 32, 33 X-ALD_c.2037G>A alias c.2037G>A X-ALD_c.2051T>C commonName c.2051T>C X-ALD_c.2078C>T commonName c.2078C>T X-ALD_c.2078C>T phenoCommon ALDP in fibroblasts is present X-ALD_c.2238+8C>G commonName c.2238+8C>G X-ALD_c.1_1488del commonName exon1-5del X-ALD_c.901_1081del commonName exon2del X-ALD_c.901_1081del phenoCommon ALDP in fibroblasts is absent X-ALD_c.901_1780del commonName exon2-7del X-ALD_c.901_1780del phenoCommon ALDP in fibroblasts is absent X-ALD_c.901_2238del commonName exon2-10del X-ALD_c.1082_1488del commonName exon3-5del X-ALD_c.1082_1488del phenoCommon ALDP in fibroblasts is absent X-ALD_c.1082_1634del commonName exon3-6del X-ALD_c.1082_1780del commonName exon3-7del X-ALD_c.1082_2238del commonName exon3-10del X-ALD_c.1082_2238del phenoCommon ALDP in fibroblasts is absent X-ALD_c.1394_1488del commonName exon5del X-ALD_c.1489_1634del commonName exon6del X-ALD_c.1489_2238del commonName exon6-10del X-ALD_c.1635_1991del commonName exon7-9del X-ALD_c.1635_2238del commonName exon7-10del X-ALD_c.1635_2238del phenoCommon ALDP in fibroblasts is absent X-ALD_c.1781_1991del commonName exon8-9del X-ALD_c.1781_1991del phenoCommon ALDP in fibroblasts is absent X-ALD_c.1781_2238del commonName exon8-10del